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_26900
With a mutation on Chromosome 19 in gene GTPBP3 (GTP binding protein 3, mitochondrial), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Combined oxidative phosphorylation defect type 23
AGGGCGTGGGGCCCGTGGAGCAGGAGGGCGTGCGGCGCGCCCGGGAGAGGTGGGCGGACAGGGTGGTGATGGGAGGGGAACGCGGGGCCCTTTCTCTGCCTTTTCTCCCTGTTGCGTTTATTTTTCATTCTTCCTGAATCAGAGAACCTGCTAAGCCCTATCAAGCATGGATCTCAGGGATTTGGTTCTTTTTTTTTTTTTTTTTTTTTACTCCGAGACCGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGTATCTCAGCTCACTGCAAGCTCTGTCTTCCGGGTTCAAGCAAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGGGAGCGACCACGCCGAACTATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACTATGTTGGCCAGGTTGGTCTCTAACTCCTGAGCCTCGGCCTCCCAAAGTGTTGTGAGCCCACCGCACCTGGCCTGGTGTTTTGTTTTTGTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCCGCCTCTCGGGTTCAAGTGATTCTTCTGCCTGGGCCTCCCGAGTAGCTGGGATTAGAGGCGCCCACCACAATGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGACCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACTGTGCCCGGCCAGTGATTTAGTTCTGATTAAGTCCTGCCCCCGGCCCTCCGGACATGTTTCTCATCCCTAAGCCCTCCGCCCAGCCCTCACGTTCTGCCCCGCCCTCTCGTGCTCTGTCCCGCCCTGGCACTCCGCTCTGCCCCTTGCGGTCTATCCCATCCCCTGTGCTCTGTCCACCCCCTACATTCTGCCCCACCCCTGGTGCTCTCTACCCCTTACCCTGTGGTGTGTCTGGTCCTTCTTGCTCTGCCCCGCCACTCATGGTCGCCCCACTCCAGTGCTGTACCCGGCCCCTTTTGCTCTGTCCCAGCCCCTGTGCTGTGCCCTGTCCCTCTTGCTCTGCTCTTCCCCCTGCACAGTGCTCTGCCCCTCTTGCTCTGCCCCGCCCTCCTGTGCTGTGCCCCGCCCCTCCTGCCCTGCCCTACTCACTGCACTGTGCCCAGCCCCTCCTGCTCTGCCCCGCTCCCGCACCGTGACCGCTCCTCTTGCTCTGCCCTTCCCCCTGCACTGTGCCCCGCCCCTCTTGCTCTGCCCCACCCCCTGTGCTCGGCTTGGGCCCCCAACATTCTGCCGGTCCCCTGGTACTCTACTCCTCCCTCCCGACCTCACGCTTCGCAGCTCCCCCAGTGCTCTGCCTGGCCCCTCTAACTGTCCCTCCACCCAGTGCCTTCAATTGCTCAACCTGGGATCCCCGCTCAGTTGACCTTGCTCCCGCAGGCTAGAGCAGGCTGACCTCATTCTGGCCATGCTGGATGCTTCTGACCTGGCCTCTCCCTCCAGTTGCAACTTCCTGGCCACCGTCGTAGCCTCTGTGGGAGCCCAGAGCCCCAGTGACAGCAGCCAGCGCCTCCTCCTGGTGCTGAACAAGTCGGACCTGCTGTCCCCGGAGGGCCCAGGTCCCGGTCCTGACCTGCCCCCGCACCTGCTGCTGTCCTGTCTGACGGGAGAGGGGCTGGACGGCCTCCTGGAGGCGCTGAGGAAGGAGCTAGCTGCAGTGTGAGCCCCCTCCCACTCCCAGCCTCCCCTGACCCACAGTTTAAGTGTGGGTCCCTCAACTTCAATTTCTGAACCTACAAAATGGGTACAACCATTTCCCCTTCAAGGGATGGTTGTAAAAGGTCGGGAGAGACCATGTCTCTTGTCTCTTCCAGGTGTGGGGACCCGTCCACAGATCCCCCGCTGCTGACCCGAGCAAGGCACCAGCACCACCTCCAGGGTTGCCTGGATGCCCTCGGCCACTACAAGCAGTCAAAAGACCTGGCCCTGGCGGCAGAGGCGCTGCGGGTGGCCCGGGGTCACCTGACCCGGCTCACAGGTGGAGGGGGTACCGAGGAGATCCTGGACATCATCTTCCAGGACTTCTGTGTGGGCAAGTGACGGGATCCAGGGAAGTCGCACCCAAGCTGCGTGGAGACCCAGGAGCCTCGGGGGATCTGGAAACAGTTTAGGCCAATTGGGATTCTCATTCGCCTGGGAAAGAACTTGATTCTCAAATAGTGAAGCAACACAGCTGAGAGGTAGTGAGATCCCTGCAGGGACTCCCTGGAGATTCAGGCCCTGGAATGGGGCTGAATGGAGGTCCCGTTCGACCCTTGATGCTGGGGCATCCGGGTTGGGATGGAGATAGGAGGATCTCAGTATATTTGTTTCGTAGTTTTTTATTTATTTTGCAAATACCAAAGGAATGTAAAAAAAACTCAGGTGATCTAGAAGTGTTTATTTTCTTCCCTTCCCTTCCCTTCCCTTTCCTTTTCCCTTTCCCTTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTACCCTTCCCTCCTCTGTCTATTGCCCAGGCTGGAGTGCAGTGGTGCGACCTTGGCTCACTGCAACCTCCATCTCCGGGGCTCAAGCGCTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCCGGCTAATTTTTTTCTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTTCAGTGGTGCGACCTCGGCTTACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACTACAGGCGCACACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCCTTGACCTCAGGTAATCTGCCTACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCGTGAGCTATCACACCTGGCCCCAGAAGTGTTTCAACATGGAAATTTTCCTTAGCCCTTCTGTGGTTGTCATGGCTTAATGTGTGTCTTTCCAGAACTTTGAATGTTTGCATACTTGTGGATGTACCTTTCAAATATGTTTGTCTTGTGTATCATATATAAATGGTATTGTGTTCATTGCTCTACAAATTGTCATTTCTTTTTAAAAAAAAAACAGAATTATGGAGATGGGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAGCTCTTGGACTCAAGCCATCCTGCTGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGTGCCTGGCCTCATTCCTTTTTTAGTCTTTAGTCTTCTTTTTTTTTTTTTTTTTTTTTGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGATCTCCTGACCTTGTGATCTGCCCACCTGTGGCCTCCCAAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGACAGAGTCTTGCTCTGTTGCCCAGACTGAAGTGCAGTGGTGTGATCTCAGCTCACTGCAGCCTCTGCCTCCTGAGCTCAAGCCATTCTCGTGCCTCAGCCTCCCGAGCAGCTGGGATCATAGGTGTACCCTACCACACCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGTATTTGTCATGTTGCCCAGGCTGGTCTCAAGCTCCTGGCCTCAAAAGATCTGCCCGTCTTGTCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCACACCCACCTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCACTCTGTTGCCCGGCCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCTGAATAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATAGTCTTGAGACCCTGACCTTGCACTACCATATCCCATGTCTGGCTAATTTCTTATTTTTTATAGAGATGGGGTCTCCCTATATTGCCCAGG
AGGGCGTGGGGCCCGTGGAGCAGGAGGGCGTGCGGCGCGCCCGGGAGAGGTGGGCGGACAGGGTGGTGATGGGAGGGGAACGCGGGGCCCTTTCTCTGCCTTTTCTCCCTGTTGCGTTTATTTTTCATTCTTCCTGAATCAGAGAACCTGCTAAGCCCTATCAAGCATGGATCTCAGGGATTTGGTTCTTTTTTTTTTTTTTTTTTTTTACTCCGAGACCGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGTATCTCAGCTCACTGCAAGCTCTGTCTTCCGGGTTCAAGCAAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGGGAGCGACCACGCCGAACTATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACTATGTTGGCCAGGTTGGTCTCTAACTCCTGAGCCTCGGCCTCCCAAAGTGTTGTGAGCCCACCGCACCTGGCCTGGTGTTTTGTTTTTGTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCCGCCTCTCGGGTTCAAGTGATTCTTCTGCCTGGGCCTCCCGAGTAGCTGGGATTAGAGGCGCCCACCACAATGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGACCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACTGTGCCCGGCCAGTGATTTAGTTCTGATTAAGTCCTGCCCCCGGCCCTCCGGACATGTTTCTCATCCCTAAGCCCTCCGCCCAGCCCTCACGTTCTGCCCCGCCCTCTCGTGCTCTGTCCCGCCCTGGCACTCCGCTCTGCCCCTTGCGGTCTATCCCATCCCCTGTGCTCTGTCCACCCCCTACATTCTGCCCCACCCCTGGTGCTCTCTACCCCTTACCCTGTGGTGTGTCTGGTCCTTCTTGCTCTGCCCCGCCACTCATGGTCGCCCCACTCCAGTGCTGTACCCGGCCCCTTTTGCTCTGTCCCAGCCCCTGTGCTGTGCCCTGTCCCTCTTGCTCTGCTCTTCCCCCTGCACAGTGCTCTGCCCCTCTTGCTCTGCCCCGCCCTCCTGTGCTGTGCCCCGCCCCTCCTGCCCTGCCCTACTCACTGCACTGTGCCCAGCCCCTCCTGCTCTGCCCCGCTCCCGCACCGTGACCGCTCCTCTTGCTCTGCCCTTCCCCCTGCACTGTGCCCCGCCCCTCTTGCTCTGCCCCACCCCCTGTGCTCGGCTTGGGCCCCCAACATTCTGCCGGTCCCCTGGTACTCTACTCCTCCCTCCCGACCTCACGCTTCGCAGCTCCCCCAGTGCTCTGCCTGGCCCCTCTAACTGTCCCTCCACCCAGTGCCTTCAATTGCTCAACCTGGGATCCCCGCTCAGTTGACCTTGCTCCCGCAGGCTAGAGCAGGCTGACCTCATTCTGGCCATGCTGGATGCTTCTGACCTGGCCTCTCCCTCCAGTTGCAACTTCCTGGCCACCGTCGTAGCCTCTGTGGGAGCCCAGAGCCCCAGTGACAGCAGCCAGCGCCTCCTCCTGGTGCTGAACAAGTCGGACCTGCTGTCCCCGGAGGGCCCAGGTCCCGGTCCTGACCTGCCCCCGCACCTGCTGCTGTCCTGTCTGACGGGAGAGGGGCTGGACGGCCTCCTGGAGGCGCTGAGGAAGGAGCTAGCTGCAGTGTGAGCCCCCTCCCACTCCCAGCCTCCCCTGACCCACAGTTTAAGTGTGGGTCCCTCAACTTCAATTTCTGAACCTACAAAATGGGTACAACCATTTCCCCTTCAAGGGATGGTTGTAAAAGGTCGGGAGAGACCATGTCTCTTGTCTCTTCCAGGTGTGGGGACCCGTCCACAGATCCCCCGCTGCTGACCCGAGCAAGGCACCAGCACCACCTCCAGGGTTGCCTGGATGCCCTCGGCCACTACAAGCAGTCAAAAGACCTGGCCCTGGCGGCAAAGGCGCTGCGGGTGGCCCGGGGTCACCTGACCCGGCTCACAGGTGGAGGGGGTACCGAGGAGATCCTGGACATCATCTTCCAGGACTTCTGTGTGGGCAAGTGACGGGATCCAGGGAAGTCGCACCCAAGCTGCGTGGAGACCCAGGAGCCTCGGGGGATCTGGAAACAGTTTAGGCCAATTGGGATTCTCATTCGCCTGGGAAAGAACTTGATTCTCAAATAGTGAAGCAACACAGCTGAGAGGTAGTGAGATCCCTGCAGGGACTCCCTGGAGATTCAGGCCCTGGAATGGGGCTGAATGGAGGTCCCGTTCGACCCTTGATGCTGGGGCATCCGGGTTGGGATGGAGATAGGAGGATCTCAGTATATTTGTTTCGTAGTTTTTTATTTATTTTGCAAATACCAAAGGAATGTAAAAAAAACTCAGGTGATCTAGAAGTGTTTATTTTCTTCCCTTCCCTTCCCTTCCCTTTCCTTTTCCCTTTCCCTTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTACCCTTCCCTCCTCTGTCTATTGCCCAGGCTGGAGTGCAGTGGTGCGACCTTGGCTCACTGCAACCTCCATCTCCGGGGCTCAAGCGCTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCCGGCTAATTTTTTTCTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTTCAGTGGTGCGACCTCGGCTTACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACTACAGGCGCACACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCCTTGACCTCAGGTAATCTGCCTACCTTGGCCTCCCAAAGTGCTGGGATCACAGGCGTGAGCTATCACACCTGGCCCCAGAAGTGTTTCAACATGGAAATTTTCCTTAGCCCTTCTGTGGTTGTCATGGCTTAATGTGTGTCTTTCCAGAACTTTGAATGTTTGCATACTTGTGGATGTACCTTTCAAATATGTTTGTCTTGTGTATCATATATAAATGGTATTGTGTTCATTGCTCTACAAATTGTCATTTCTTTTTAAAAAAAAAACAGAATTATGGAGATGGGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAGCTCTTGGACTCAAGCCATCCTGCTGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGTGCCTGGCCTCATTCCTTTTTTAGTCTTTAGTCTTCTTTTTTTTTTTTTTTTTTTTTGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGATCTCCTGACCTTGTGATCTGCCCACCTGTGGCCTCCCAAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGACAGAGTCTTGCTCTGTTGCCCAGACTGAAGTGCAGTGGTGTGATCTCAGCTCACTGCAGCCTCTGCCTCCTGAGCTCAAGCCATTCTCGTGCCTCAGCCTCCCGAGCAGCTGGGATCATAGGTGTACCCTACCACACCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGTATTTGTCATGTTGCCCAGGCTGGTCTCAAGCTCCTGGCCTCAAAAGATCTGCCCGTCTTGTCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCACACCCACCTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCACTCTGTTGCCCGGCCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCTGAATAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATAGTCTTGAGACCCTGACCTTGCACTACCATATCCCATGTCTGGCTAATTTCTTATTTTTTATAGAGATGGGGTCTCCCTATATTGCCCAGG
Task1_train_26901
A variant affecting Chromosome 19, within the gene PLVAP (plasmalemma vesicle associated protein), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Diarrhea 10, protein-losing enteropathy type
TACAGACAGGGTTTCACCATGTTGCCCAGGTTGGTCTCAAATTCCTGGACTCAGGTGGTCCTCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTGTAGCCGGTCTTCAGCCACTTATTTGCAGCTTGTGTGTGCTGGACCCCTTTGATTAGTGCTGGCACATTCTGGGAGCTTCATGCATAGTAAGTTATGGGCTCAGGACTGCCAATTAACACACAGGAGGAGAATTAAACTTGGATTCCAAAAAGACAATGAATATTATTTTCAAAATTATATCTCAAATATTGCATGGAATATACTTACAGTTTAAAAAAAATGTTGCTGGCTGGGAATGGTGGCTCATGCCTGTAATCTCAGCACTTTAGGAGGGTGAGCCTAGGAGTTCAAGACCAGCCTCAGCAGCATAGTGAGATTCTGTCTCTAAAAAAAAGTTAGCCAGGGCACCAGGTCAGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTATGGGAGGCCGAGGTGGGTGGCTCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGCATGGTTGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGGCGAGATTGTGCCACTGCACTTCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTGCCAGGTGTGGTGGTGCCCACCTGTAATCTCAGCACTTTGGGAGGTCCAGGAGGGAGGATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGATCAACATAGCGAGACCCCACGTCTACTAAAAATAAAAAATGACCTGGGCATAGTGGCATGTCCATAGTGCCAGCTACTCAAAAGGCTGAGGCAGGAGGATTGCTGGAGCCCAGGATGTCAAGGCTTCAGTGAGCTATGCTCACATCACTGTGCTCCAGCCTGGGTGACAGAGTGAGACCCTGCCTCCAAAAAAAAGAAAAGAAATAAAAAAAATTTAGCTGGACGCAGTGCCCCACACCTGTAATCCCAGCAGTTTGGGAGGCTGGGGTGAGAGGATTGCTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCTGCTAAATATAAACATATTAGCTGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCACTTGAGTCCAGGAGATTGAGGTTGCAGTGAGCTGTGATAGCAATTGCACTCCATCCAGCCCAGGATACACATGGAGACCCTGTCTCTTAAGGAAAAAAAAAAAATCTATCGGCCGGGTGCAGTGGCTCACGCTTGTAATCCCAACAATTTGGGAGGCCAAGGCAGGCGTATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATGAGCCGGTTATGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTCCAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGAGACGGAGCGAGACTCTGTCTCATAAGAAAAGAGAGCATTGGTCCTGTGATCGTCCCCCTCTCTTGGATGAGGAAACTCAGGCTCAGAGAGGTGAGGGGGCTTGCTCAGGGTCCCCAGGGCGAGTGTCCTGCCCACAGCCTTACCCGGTCACCCTGGCACTGGCGGAAGCTGGCATTGATGCGGTCCAGGTCGCGGCGAGCATTCAGCCACATCTGCATGATGGCATCCTTGGCGCGGGTGGTGAAGTTGAGCTCCTTGGTCAAGTTGGACTGGGAGGCCGTGAGCCCTAGGAGCTGACTGTATAGGCCCTCGGCTCGGCGCTCGGTGGCCTGCAGGTTGGACTCTGTGCTCACGTGCACGTTGCCATAGACCATGAAGAGCACGAGCCCCAGGATGATGAGGAATTGGATGAGGGAGACGAAGAGGAAGAAGTAGCGCAGGTAATACCAGCAGCCCCGAGAGCTGCCCCCCGCCCGAGCGTAGGACCCTCCGTGCTCCATGGCCAGACCCATTTGCTCGATCCCGCCGTCCGGTGCACCGTCCCTGCTCACCACCAGGCCTGCTCTGGCCCCCGCCTCGCAGGGGGGAGTGCTTATATTACTCCTCTTAATACTTCCTCTGCCTGGCTCCTTCCTGGCCCGGAGGAAACGGGGGCTGCGGGTTATCACAACACTCCCACTCTGGCTGTGAGAAGGCGGGGGTGGGGCTGGGGGCCCAGAGCCAGGGCACCGGCTGGACCCCTCTGATTAATGCTGGGTGGGGCGCTGGCTGGCTGGTCAGGCATTCCTGGCCTCTTCGAGCCTCGCGTTCGCCTTTACTTGCTGGCGGGTGCTGTTCTCAGTACCTGCTGTGATTAGGTCGCTGAATCATGCCAGGTCTGTTGCTGTCTCCCTTGTGTGGCGGAGGAAACTGAGGCACAGGGAGGAGAAGGGGTTGCCTCGGGGTCTCACGCTGTTAGTTCAGCGAACTTGACTTACCTCAAGACAGGCTGGCTACAGACGTGCACCCACTTCACCAGGGCGGTGCTGATTAAGTGCCACAAAACGTGGGAAATGTGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGACGGATCACCTGAGGTCAGAAGTTTGAGACCAACCCGGTCACCGTGGTGAAACCCCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGTGTGGTGGTGCTCGCCTGTAATTCCAGCTACCCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGTCGGAGGTTGCGGTGAGCAGAGATCGTGCCATTGCACTCCAGCCTGGGGTATAGAGCAAGACTCTGTTTCAAAAAAAAAAAAAAACAGAAAAAGTGTGAAACTCTTAGCTAGCCTAGGGATGGAGAAGCAGTAGGTGATTAGTAATTGCATAGGAGGGCGTCACGGAGGGCTGAGCCATGGATGGCGGTGGCGCTGGCTCCCCAAGCTCTGTCATTGCCCCCAGTGCCCTGTTCACTTAGATGCTCAGTAAATGCTCCAGGAAACTGCAGCACAAGGAATAATGAACTTGGAGCGGGGAAGAGCTGGCTTTGTCCCGGGAGAGCTCGGGCAAGAGGCCTCGCATGTCTGTGCCTCCCTTTTCCCCTTTGTGAGACGGGGTATACCCAGTGCCTCGTCACTCTGTGGCTGTTGTTATGATTAGGATCATTTCCTGCTGGAGGCACTGCTGGGGGCTCCGTGAGATGGTGAATGACAAGTGGTGGATACGTGGGACTGAGATTCCTCCCCCGACACTCAAAACCCCATGGGCGGCCGGGCATAGTGGCTCACACCTGTAATCTCAGCACTTTGTGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTGCGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCGTGTGTGGTGGCGAGCACCTGTAATCCCAGCTGCTTGGGAAGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAAGCGAGATCGGGCCACTGCACTCCATCCTGGGAGATAAGAGAGAAACTCTGTCTCAAAAACAAAAACAAACAAACCAAAAAAACCACGGGAGTTTTCTGGGGTCGCTGTGGGTCACCCCCCAGTTGGGCCTGGAGGGGATTTGGGGACCCGGAAGCAAAGGATTCTGTGTGTCCTGCCTATCTCCCAGGATCAGGAGCTCCAGGGAAACCCTCCCTGGAGTCCCTTCTTTGTTTGCTCCATGCTGGGTGATGCCAGGGCCCCCCAAGAGGTGTCAGTCCCAACCTCAGCCACAAGCAACTCCCAGTCTTGGGAGACAGACTGGGACAGGTACCCCCCACCCTGTGGAGTCAGGGTGGGCTGGAGGAACAGGAGCAGGGAGCCGGAAAGGAGGCTGGACTCCGGACAGGTGACAATCATGCAATTGCTGTCCT
TACAGACAGGGTTTCACCATGTTGCCCAGGTTGGTCTCAAATTCCTGGACTCAGGTGGTCCTCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTGTAGCCGGTCTTCAGCCACTTATTTGCAGCTTGTGTGTGCTGGACCCCTTTGATTAGTGCTGGCACATTCTGGGAGCTTCATGCATAGTAAGTTATGGGCTCAGGACTGCCAATTAACACACAGGAGGAGAATTAAACTTGGATTCCAAAAAGACAATGAATATTATTTTCAAAATTATATCTCAAATATTGCATGGAATATACTTACAGTTTAAAAAAAATGTTGCTGGCTGGGAATGGTGGCTCATGCCTGTAATCTCAGCACTTTAGGAGGGTGAGCCTAGGAGTTCAAGACCAGCCTCAGCAGCATAGTGAGATTCTGTCTCTAAAAAAAAGTTAGCCAGGGCACCAGGTCAGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTATGGGAGGCCGAGGTGGGTGGCTCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGCATGGTTGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGGCGAGATTGTGCCACTGCACTTCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTGCCAGGTGTGGTGGTGCCCACCTGTAATCTCAGCACTTTGGGAGGTCCAGGAGGGAGGATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGATCAACATAGCGAGACCCCACGTCTACTAAAAATAAAAAATGACCTGGGCATAGTGGCATGTCCATAGTGCCAGCTACTCAAAAGGCTGAGGCAGGAGGATTGCTGGAGCCCAGGATGTCAAGGCTTCAGTGAGCTATGCTCACATCACTGTGCTCCAGCCTGGGTGACAGAGTGAGACCCTGCCTCCAAAAAAAAGAAAAGAAATAAAAAAAATTTAGCTGGACGCAGTGCCCCACACCTGTAATCCCAGCAGTTTGGGAGGCTGGGGTGAGAGGATTGCTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCTGCTAAATATAAACATATTAGCTGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCACTTGAGTCCAGGAGATTGAGGTTGCAGTGAGCTGTGATAGCAATTGCACTCCATCCAGCCCAGGATACACATGGAGACCCTGTCTCTTAAGGAAAAAAAAAAAATCTATCGGCCGGGTGCAGTGGCTCACGCTTGTAATCCCAACAATTTGGGAGGCCAAGGCAGGCGTATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATGAGCCGGTTATGATGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTCCAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGAGACGGAGCGAGACTCTGTCTCATAAGAAAAGAGAGCATTGGTCCTGTGATCGTCCCCCTCTCTTGGATGAGGAAACTCAGGCTCAGAGAGGTGAGGGGGCTTGCTCAGGGTCCCCAGGGCGAGTGTCCTGCCCACAGCCTTACCCGGTCACCCTGGCACTGGCGGAAGCTGGCATTGATGCGGTCCAGGTCGCGGCGAGCATTCAGCCACATCTGCATGATGGCATCCTTGGCGCGGGTGGTGAAGTTGAGCTCCTTGGTCAAGTTGGACTGGGAGGCCGTGAGCCCTAGGAGCTGACTGTATAGGCCCTCGGCTCGGCGCTCGGTGGCCTGCAGGTTGGACTCTGTGCTCACGTGCACGTTGCCATAGACCATGAAGAGCACGAGCCCCAGGATGATGAGGAATTGGATGGGGGAGACGAAGAGGAAGAAGTAGCGCAGGTAATACCAGCAGCCCCGAGAGCTGCCCCCCGCCCGAGCGTAGGACCCTCCGTGCTCCATGGCCAGACCCATTTGCTCGATCCCGCCGTCCGGTGCACCGTCCCTGCTCACCACCAGGCCTGCTCTGGCCCCCGCCTCGCAGGGGGGAGTGCTTATATTACTCCTCTTAATACTTCCTCTGCCTGGCTCCTTCCTGGCCCGGAGGAAACGGGGGCTGCGGGTTATCACAACACTCCCACTCTGGCTGTGAGAAGGCGGGGGTGGGGCTGGGGGCCCAGAGCCAGGGCACCGGCTGGACCCCTCTGATTAATGCTGGGTGGGGCGCTGGCTGGCTGGTCAGGCATTCCTGGCCTCTTCGAGCCTCGCGTTCGCCTTTACTTGCTGGCGGGTGCTGTTCTCAGTACCTGCTGTGATTAGGTCGCTGAATCATGCCAGGTCTGTTGCTGTCTCCCTTGTGTGGCGGAGGAAACTGAGGCACAGGGAGGAGAAGGGGTTGCCTCGGGGTCTCACGCTGTTAGTTCAGCGAACTTGACTTACCTCAAGACAGGCTGGCTACAGACGTGCACCCACTTCACCAGGGCGGTGCTGATTAAGTGCCACAAAACGTGGGAAATGTGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGACGGATCACCTGAGGTCAGAAGTTTGAGACCAACCCGGTCACCGTGGTGAAACCCCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGTGTGGTGGTGCTCGCCTGTAATTCCAGCTACCCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGTCGGAGGTTGCGGTGAGCAGAGATCGTGCCATTGCACTCCAGCCTGGGGTATAGAGCAAGACTCTGTTTCAAAAAAAAAAAAAAACAGAAAAAGTGTGAAACTCTTAGCTAGCCTAGGGATGGAGAAGCAGTAGGTGATTAGTAATTGCATAGGAGGGCGTCACGGAGGGCTGAGCCATGGATGGCGGTGGCGCTGGCTCCCCAAGCTCTGTCATTGCCCCCAGTGCCCTGTTCACTTAGATGCTCAGTAAATGCTCCAGGAAACTGCAGCACAAGGAATAATGAACTTGGAGCGGGGAAGAGCTGGCTTTGTCCCGGGAGAGCTCGGGCAAGAGGCCTCGCATGTCTGTGCCTCCCTTTTCCCCTTTGTGAGACGGGGTATACCCAGTGCCTCGTCACTCTGTGGCTGTTGTTATGATTAGGATCATTTCCTGCTGGAGGCACTGCTGGGGGCTCCGTGAGATGGTGAATGACAAGTGGTGGATACGTGGGACTGAGATTCCTCCCCCGACACTCAAAACCCCATGGGCGGCCGGGCATAGTGGCTCACACCTGTAATCTCAGCACTTTGTGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTGCGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCGTGTGTGGTGGCGAGCACCTGTAATCCCAGCTGCTTGGGAAGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAAGCGAGATCGGGCCACTGCACTCCATCCTGGGAGATAAGAGAGAAACTCTGTCTCAAAAACAAAAACAAACAAACCAAAAAAACCACGGGAGTTTTCTGGGGTCGCTGTGGGTCACCCCCCAGTTGGGCCTGGAGGGGATTTGGGGACCCGGAAGCAAAGGATTCTGTGTGTCCTGCCTATCTCCCAGGATCAGGAGCTCCAGGGAAACCCTCCCTGGAGTCCCTTCTTTGTTTGCTCCATGCTGGGTGATGCCAGGGCCCCCCAAGAGGTGTCAGTCCCAACCTCAGCCACAAGCAACTCCCAGTCTTGGGAGACAGACTGGGACAGGTACCCCCCACCCTGTGGAGTCAGGGTGGGCTGGAGGAACAGGAGCAGGGAGCCGGAAAGGAGGCTGGACTCCGGACAGGTGACAATCATGCAATTGCTGTCCT
Task1_train_26902
This variant affects the gene COLGALT1 (collagen beta(1-O)galactosyltransferase 1) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Brain small vessel disease 3
TATACATTACAAAAATTGCCGTGTGCGGTGGCTCATTCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGGACCTGGTAGGCGGAGATTGCAGTGAACCAAGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAATTAAGTGACACATATTTGTTAGTGAATGTGGTTTGCAAGATCTTAGATGCTCAGTAATAAAACAGCCAATCACTAATGGGTCTTTCCAAAATCAGCTTGTTTAATCCTTCCACTTCCCAGTAAACTGGGTCCTGTTCCCACCCCCATGTTACAGATGAGGAAACTGACATGGAAAGGGAGAAATGGGCCGGGCGCGGTGGCTCACGCTTGTTAAGTCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAAGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAACAAAGGAAAGGGAGAAGTGTCCTGTCCAGGGATACATAGCTGGTGGGAGGCCAGTTGGGGATGGTGGTCCTTGACTTGCCTCACTGCTGCCTGGTCCTGCCTCAGTCTCCCCAAGTACGCTGCCTGTCCCCTCTCCCTGCAGGGTGGCTACGGACCACAACATGGATAACACGTCAACTGTGCTGCGGGAGTGGCTGGTGGCCGTGAAGAGTTTGTACCATTCCGTGGAGTGGCGGCCAGCAGAGGAGCCCAGGTGAGCATCTTTCCCCTGCTCCTAGTCTGATTGGGCTTTGCCTCTGCTCACACACCCTCTATGGCTCCCCATTGCCCCAGAACAATTACAGGCCCTCAGTCCCTGCCTCCAGCCCAGCCAGGCAGCATTAAGCTACTCTGAGCCTCCCTCAGCTTTACAAATAGGCCATAATCCTCTTCTCAGACCTTTGCCCAAGCCGTTCCCTGTACCTAGAATTCTTTCACTCCCTTTTTCTTCTGGGGACGCCCACTGCTTTGTTCCCTGGCTCACTGACTCAGTCTTGGTCCCAGCACTGGCTTTGCTGTTTATCTACTCCCTAAAGCCCTGGGCAGCATGGACTCCCTGCCCCCACCCAGTTCCTTTCTGGGTTTTTGTTTTTTTTTTGAGACAGGGTCTCACTCCCTCACCCAGGCTGGAGTGCAGTGGAGTGAACACAGCTTACTGCAGCCTTTAACTCCTGGGCTCAAGCCATCCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGTAACCATGCCTAGCTAATGTTTTTGTATTTTTTGTAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAAGTGCTGGCCTCAAGCGATCCTCCCACCTCTGCCTCCCAAAGTGCTGGGATCGCAGGCGTGGGCCACTGCACTGGACCCCACTGAGCTTCCTTCCTTCCTTCCCTCCAGTGTGCCTCGGGCTTTCTTCCCTCCAGGCCTTTGCACAGGCTGTACCTCCGGCCAGGAACATTCTCCCCACTTCTCTTTCCTCGTCGTTTACTTTTTCCCATCCCTCAGATCAGCTTACACGTCCCCTCCTCCAGGAAGCTCTCTCTGAGTACCCCGAAGGCAGCTCAGGCCCTCGCTGGGCTTTGATAGTGCCTTGTGATGTCCACATCACAGCTGCCTCCCCATAGGTCCTACCCGGACGAGGAAGGCCCGAAACACTGGTCTGACTCACGCTACGAGCATGTCATGAAGTTGCGCCAGGCAGCCCTGAAATCAGCTCGAGACATGTGGGCTGATTACATCCTGGTAAGTTTCTCAGCCGGCCGGATATGGATCACAGGCAGGTCTGGGTATCCCCAGGGAAGGCGGAGCAGCAGGATGCCAGGACCATCCTTAATGTTGTTTTGCAGAAGGGTAAACTGAGGCTTAGAGAGGGGAGATGAGTTGCTTGAGGTGATATGGTTGGTCAGTGGAGGAGGAGCTGGGATTCATTTGATCCTCAGCACTAGGAATGAATGGGCTTTTCTGTCCCCAGTTGTCCCCTGTGTTTGGACACTTGGGTCAAGTCCATTTTTATTTTTTTATTTTTTTGAGACAGAGACTCACTCTGGTGCCCAGGCTGGAGTGAAGTGCCGCAATATCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCCCGTGCCACAGCCTCCTGAGTAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTATTTTTATTTTTGTGGAAGCCAGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGGTCGAGACCAGCCTGGTCAATATGGTGAGACTCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGTGCCTGTAATCCCGGCTACCTGGGAGGCTGAGGCAGGAGGATTTCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGTCACTGGGCGACACAGTGAGACTCCATCTCATAAATAAATACATAAATAAATATTTTTAAAAAATAACAAATAAAAAATATTTTTGTAGAGACGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCCAACCCCTGGGCTCAAGTGATCTTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACCGTGCCTGGCCGTGTCACGTCTGTTTTTATCACCATCATATGTAATGGCCAAACCTTTGGGTCACTTCCAAGAAGCAGGAGGAAGGGGTCAGGGGCTGGGGGGTGGTGGCCACATTGAATTGCTGAGGCCTGACTTGCACTTCCTCCTCCTGTGGGGACATTGTCTCATGGGGAAGGGAACAGTTGAGTCTTTTTATTTTTTTCTCGAGCCAAGATCACGCCACTGCACTCCAACCTGGGCCACAGTATGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGACTTATAGGTTGAATATTACTATTATTTTTTAATTTGTATAAACTTATGGAGCACAAGTGTAATTCTGTTACATGCATAGATTGTGAAGTGGTGAAGTCAGAGATTTTGGGGCGTCCATCCCCTAAATAATATACATTGAACCCATTACACAGTTTTCTATGATCAACCCCAAATGTTATTTCAGCCTTCATACTTTTCTATATTCTCCTGATTTTCTTTTTTCTTGTTTTTTGAGACAGAGTCTCTGTTGCCCAGGTTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAGCCTCCTCCTCCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGCCCCCGCCATCATGCCTGGCTAATTTTTGTAATTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCTAAAGTCCTGACCTCAGGTGATCCAGCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACATCCAGCCCATCTCTTAAAACAAACAAACAAAAAGCAGAAAAGAAAAAGCAAAGAGTCAAGTGAGCAAAGTGATTACGATGCAGTGGTGGCTAGAGGTCCAACTACACAGGCCAGTGGAGGCACTTGGTGTCTACTTGGAGGGGAATGGGGAGCCATGGAGGGTGTGTGAGCAGGGGAGGTCTGTGTTCTGATTTGAGATTTTCAGAAGCCTCTGTGGACCAGGCGCGGTGGCTCATGCCTCTAAATTCAGTACTTTGAGTGGCTGAGGCAAGTGGATTGTTTGACTTCAGGAGTTTGAGACCAGCCTGGTC
TATACATTACAAAAATTGCCGTGTGCGGTGGCTCATTCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGGACCTGGTAGGCGGAGATTGCAGTGAACCAAGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAATTAAGTGACACATATTTGTTAGTGAATGTGGTTTGCAAGATCTTAGATGCTCAGTAATAAAACAGCCAATCACTAATGGGTCTTTCCAAAATCAGCTTGTTTAATCCTTCCACTTCCCAGTAAACTGGGTCCTGTTCCCACCCCCATGTTACAGATGAGGAAACTGACATGGAAAGGGAGAAATGGGCCGGGCGCGGTGGCTCACGCTTGTTAAGTCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAAGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAACAAAGGAAAGGGAGAAGTGTCCTGTCCAGGGATACATAGCTGGTGGGAGGCCAGTTGGGGATGGTGGTCCTTGACTTGCCTCACTGCTGCCTGGTCCTGCCTCAGTCTCCCCAAGTACGCTGCCTGTCCCCTCTCCCTGCAGGGTGGCTACGGACCACAACATGGATAACACGTCAACTGTGCTGCGGGAGTGGCTGGTGGCCGTGAAGAGTTTGTACCATTCCGTGGAGTGGCGGCCAGCAGAGGAGCCCAGGTGAGCATCTTTCCCCTGCTCCTAGTCTGATTGGGCTTTGCCTCTGCTCACACACCCTCTATGGCTCCCCATTGCCCCAGAACAATTACAGGCCCTCAGTCCCTGCCTCCAGCCCAGCCAGGCAGCATTAAGCTACTCTGAGCCTCCCTCAGCTTTACAAATAGGCCATAATCCTCTTCTCAGACCTTTGCCCAAGCCGTTCCCTGTACCTAGAATTCTTTCACTCCCTTTTTCTTCTGGGGACGCCCACTGCTTTGTTCCCTGGCTCACTGACTCAGTCTTGGTCCCAGCACTGGCTTTGCTGTTTATCTACTCCCTAAAGCCCTGGGCAGCATGGACTCCCTGCCCCCACCCAGTTCCTTTCTGGGTTTTTGTTTTTTTTTTGAGACAGGGTCTCACTCCCTCACCCAGGCTGGAGTGCAGTGGAGTGAACACAGCTTACTGCAGCCTTTAACTCCTGGGCTCAAGCCATCCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGTAACCATGCCTAGCTAATGTTTTTGTATTTTTTGTAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAAGTGCTGGCCTCAAGCGATCCTCCCACCTCTGCCTCCCAAAGTGCTGGGATCGCAGGCGTGGGCCACTGCACTGGACCCCACTGAGCTTCCTTCCTTCCTTCCCTCCAGTGTGCCTCGGGCTTTCTTCCCTCCAGGCCTTTGCACAGGCTGTACCTCCGGCCAGGAACATTCTCCCCACTTCTCTTTCCTCGTCGTTTACTTTTTCCCATCCCTCAGATCAGCTTACACGTCCCCTCCTCCAGGAAGCTCTCTCTGAGTACCCCGAAGGCAGCTCAGGCCCTCGCTGGGCTTTGATAGTGCCTTGTGATGTCCACATCACAGCTGCCTCCCCATAGGTCCTACCCGGACGAGGAAGGCCCGAAACACTGGTCTGACTCACGCTACGAGCATGTCATGAAGTTGCGCCAGGCAGCCCGGAAATCAGCTCGAGACATGTGGGCTGATTACATCCTGGTAAGTTTCTCAGCCGGCCGGATATGGATCACAGGCAGGTCTGGGTATCCCCAGGGAAGGCGGAGCAGCAGGATGCCAGGACCATCCTTAATGTTGTTTTGCAGAAGGGTAAACTGAGGCTTAGAGAGGGGAGATGAGTTGCTTGAGGTGATATGGTTGGTCAGTGGAGGAGGAGCTGGGATTCATTTGATCCTCAGCACTAGGAATGAATGGGCTTTTCTGTCCCCAGTTGTCCCCTGTGTTTGGACACTTGGGTCAAGTCCATTTTTATTTTTTTATTTTTTTGAGACAGAGACTCACTCTGGTGCCCAGGCTGGAGTGAAGTGCCGCAATATCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCCCGTGCCACAGCCTCCTGAGTAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTATTTTTATTTTTGTGGAAGCCAGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGGTCGAGACCAGCCTGGTCAATATGGTGAGACTCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGTGCCTGTAATCCCGGCTACCTGGGAGGCTGAGGCAGGAGGATTTCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGTCACTGGGCGACACAGTGAGACTCCATCTCATAAATAAATACATAAATAAATATTTTTAAAAAATAACAAATAAAAAATATTTTTGTAGAGACGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCCAACCCCTGGGCTCAAGTGATCTTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACCGTGCCTGGCCGTGTCACGTCTGTTTTTATCACCATCATATGTAATGGCCAAACCTTTGGGTCACTTCCAAGAAGCAGGAGGAAGGGGTCAGGGGCTGGGGGGTGGTGGCCACATTGAATTGCTGAGGCCTGACTTGCACTTCCTCCTCCTGTGGGGACATTGTCTCATGGGGAAGGGAACAGTTGAGTCTTTTTATTTTTTTCTCGAGCCAAGATCACGCCACTGCACTCCAACCTGGGCCACAGTATGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGACTTATAGGTTGAATATTACTATTATTTTTTAATTTGTATAAACTTATGGAGCACAAGTGTAATTCTGTTACATGCATAGATTGTGAAGTGGTGAAGTCAGAGATTTTGGGGCGTCCATCCCCTAAATAATATACATTGAACCCATTACACAGTTTTCTATGATCAACCCCAAATGTTATTTCAGCCTTCATACTTTTCTATATTCTCCTGATTTTCTTTTTTCTTGTTTTTTGAGACAGAGTCTCTGTTGCCCAGGTTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAGCCTCCTCCTCCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGCCCCCGCCATCATGCCTGGCTAATTTTTGTAATTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCTAAAGTCCTGACCTCAGGTGATCCAGCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACATCCAGCCCATCTCTTAAAACAAACAAACAAAAAGCAGAAAAGAAAAAGCAAAGAGTCAAGTGAGCAAAGTGATTACGATGCAGTGGTGGCTAGAGGTCCAACTACACAGGCCAGTGGAGGCACTTGGTGTCTACTTGGAGGGGAATGGGGAGCCATGGAGGGTGTGTGAGCAGGGGAGGTCTGTGTTCTGATTTGAGATTTTCAGAAGCCTCTGTGGACCAGGCGCGGTGGCTCATGCCTCTAAATTCAGTACTTTGAGTGGCTGAGGCAAGTGGATTGTTTGACTTCAGGAGTTTGAGACCAGCCTGGTC
Task1_train_26903
A variant affecting Chromosome 19, within the gene COLGALT1 (collagen beta(1-O)galactosyltransferase 1), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Brain small vessel disease 3
ACAAAAATTGCCGTGTGCGGTGGCTCATTCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGGACCTGGTAGGCGGAGATTGCAGTGAACCAAGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAATTAAGTGACACATATTTGTTAGTGAATGTGGTTTGCAAGATCTTAGATGCTCAGTAATAAAACAGCCAATCACTAATGGGTCTTTCCAAAATCAGCTTGTTTAATCCTTCCACTTCCCAGTAAACTGGGTCCTGTTCCCACCCCCATGTTACAGATGAGGAAACTGACATGGAAAGGGAGAAATGGGCCGGGCGCGGTGGCTCACGCTTGTTAAGTCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAAGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAACAAAGGAAAGGGAGAAGTGTCCTGTCCAGGGATACATAGCTGGTGGGAGGCCAGTTGGGGATGGTGGTCCTTGACTTGCCTCACTGCTGCCTGGTCCTGCCTCAGTCTCCCCAAGTACGCTGCCTGTCCCCTCTCCCTGCAGGGTGGCTACGGACCACAACATGGATAACACGTCAACTGTGCTGCGGGAGTGGCTGGTGGCCGTGAAGAGTTTGTACCATTCCGTGGAGTGGCGGCCAGCAGAGGAGCCCAGGTGAGCATCTTTCCCCTGCTCCTAGTCTGATTGGGCTTTGCCTCTGCTCACACACCCTCTATGGCTCCCCATTGCCCCAGAACAATTACAGGCCCTCAGTCCCTGCCTCCAGCCCAGCCAGGCAGCATTAAGCTACTCTGAGCCTCCCTCAGCTTTACAAATAGGCCATAATCCTCTTCTCAGACCTTTGCCCAAGCCGTTCCCTGTACCTAGAATTCTTTCACTCCCTTTTTCTTCTGGGGACGCCCACTGCTTTGTTCCCTGGCTCACTGACTCAGTCTTGGTCCCAGCACTGGCTTTGCTGTTTATCTACTCCCTAAAGCCCTGGGCAGCATGGACTCCCTGCCCCCACCCAGTTCCTTTCTGGGTTTTTGTTTTTTTTTTGAGACAGGGTCTCACTCCCTCACCCAGGCTGGAGTGCAGTGGAGTGAACACAGCTTACTGCAGCCTTTAACTCCTGGGCTCAAGCCATCCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGTAACCATGCCTAGCTAATGTTTTTGTATTTTTTGTAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAAGTGCTGGCCTCAAGCGATCCTCCCACCTCTGCCTCCCAAAGTGCTGGGATCGCAGGCGTGGGCCACTGCACTGGACCCCACTGAGCTTCCTTCCTTCCTTCCCTCCAGTGTGCCTCGGGCTTTCTTCCCTCCAGGCCTTTGCACAGGCTGTACCTCCGGCCAGGAACATTCTCCCCACTTCTCTTTCCTCGTCGTTTACTTTTTCCCATCCCTCAGATCAGCTTACACGTCCCCTCCTCCAGGAAGCTCTCTCTGAGTACCCCGAAGGCAGCTCAGGCCCTCGCTGGGCTTTGATAGTGCCTTGTGATGTCCACATCACAGCTGCCTCCCCATAGGTCCTACCCGGACGAGGAAGGCCCGAAACACTGGTCTGACTCACGCTACGAGCATGTCATGAAGTTGCGCCAGGCAGCCCTGAAATCAGCTCGAGACATGTGGGCTGATTACATCCTGGTAAGTTTCTCAGCCGGCCGGATATGGATCACAGGCAGGTCTGGGTATCCCCAGGGAAGGCGGAGCAGCAGGATGCCAGGACCATCCTTAATGTTGTTTTGCAGAAGGGTAAACTGAGGCTTAGAGAGGGGAGATGAGTTGCTTGAGGTGATATGGTTGGTCAGTGGAGGAGGAGCTGGGATTCATTTGATCCTCAGCACTAGGAATGAATGGGCTTTTCTGTCCCCAGTTGTCCCCTGTGTTTGGACACTTGGGTCAAGTCCATTTTTATTTTTTTATTTTTTTGAGACAGAGACTCACTCTGGTGCCCAGGCTGGAGTGAAGTGCCGCAATATCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCCCGTGCCACAGCCTCCTGAGTAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTATTTTTATTTTTGTGGAAGCCAGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGGTCGAGACCAGCCTGGTCAATATGGTGAGACTCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGTGCCTGTAATCCCGGCTACCTGGGAGGCTGAGGCAGGAGGATTTCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGTCACTGGGCGACACAGTGAGACTCCATCTCATAAATAAATACATAAATAAATATTTTTAAAAAATAACAAATAAAAAATATTTTTGTAGAGACGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCCAACCCCTGGGCTCAAGTGATCTTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACCGTGCCTGGCCGTGTCACGTCTGTTTTTATCACCATCATATGTAATGGCCAAACCTTTGGGTCACTTCCAAGAAGCAGGAGGAAGGGGTCAGGGGCTGGGGGGTGGTGGCCACATTGAATTGCTGAGGCCTGACTTGCACTTCCTCCTCCTGTGGGGACATTGTCTCATGGGGAAGGGAACAGTTGAGTCTTTTTATTTTTTTCTCGAGCCAAGATCACGCCACTGCACTCCAACCTGGGCCACAGTATGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGACTTATAGGTTGAATATTACTATTATTTTTTAATTTGTATAAACTTATGGAGCACAAGTGTAATTCTGTTACATGCATAGATTGTGAAGTGGTGAAGTCAGAGATTTTGGGGCGTCCATCCCCTAAATAATATACATTGAACCCATTACACAGTTTTCTATGATCAACCCCAAATGTTATTTCAGCCTTCATACTTTTCTATATTCTCCTGATTTTCTTTTTTCTTGTTTTTTGAGACAGAGTCTCTGTTGCCCAGGTTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAGCCTCCTCCTCCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGCCCCCGCCATCATGCCTGGCTAATTTTTGTAATTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCTAAAGTCCTGACCTCAGGTGATCCAGCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACATCCAGCCCATCTCTTAAAACAAACAAACAAAAAGCAGAAAAGAAAAAGCAAAGAGTCAAGTGAGCAAAGTGATTACGATGCAGTGGTGGCTAGAGGTCCAACTACACAGGCCAGTGGAGGCACTTGGTGTCTACTTGGAGGGGAATGGGGAGCCATGGAGGGTGTGTGAGCAGGGGAGGTCTGTGTTCTGATTTGAGATTTTCAGAAGCCTCTGTGGACCAGGCGCGGTGGCTCATGCCTCTAAATTCAGTACTTTGAGTGGCTGAGGCAAGTGGATTGTTTGACTTCAGGAGTTTGAGACCAGCCTGGTCAACATGGT
ACAAAAATTGCCGTGTGCGGTGGCTCATTCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGGACCTGGTAGGCGGAGATTGCAGTGAACCAAGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAATTAAGTGACACATATTTGTTAGTGAATGTGGTTTGCAAGATCTTAGATGCTCAGTAATAAAACAGCCAATCACTAATGGGTCTTTCCAAAATCAGCTTGTTTAATCCTTCCACTTCCCAGTAAACTGGGTCCTGTTCCCACCCCCATGTTACAGATGAGGAAACTGACATGGAAAGGGAGAAATGGGCCGGGCGCGGTGGCTCACGCTTGTTAAGTCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAAGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAACAAAGGAAAGGGAGAAGTGTCCTGTCCAGGGATACATAGCTGGTGGGAGGCCAGTTGGGGATGGTGGTCCTTGACTTGCCTCACTGCTGCCTGGTCCTGCCTCAGTCTCCCCAAGTACGCTGCCTGTCCCCTCTCCCTGCAGGGTGGCTACGGACCACAACATGGATAACACGTCAACTGTGCTGCGGGAGTGGCTGGTGGCCGTGAAGAGTTTGTACCATTCCGTGGAGTGGCGGCCAGCAGAGGAGCCCAGGTGAGCATCTTTCCCCTGCTCCTAGTCTGATTGGGCTTTGCCTCTGCTCACACACCCTCTATGGCTCCCCATTGCCCCAGAACAATTACAGGCCCTCAGTCCCTGCCTCCAGCCCAGCCAGGCAGCATTAAGCTACTCTGAGCCTCCCTCAGCTTTACAAATAGGCCATAATCCTCTTCTCAGACCTTTGCCCAAGCCGTTCCCTGTACCTAGAATTCTTTCACTCCCTTTTTCTTCTGGGGACGCCCACTGCTTTGTTCCCTGGCTCACTGACTCAGTCTTGGTCCCAGCACTGGCTTTGCTGTTTATCTACTCCCTAAAGCCCTGGGCAGCATGGACTCCCTGCCCCCACCCAGTTCCTTTCTGGGTTTTTGTTTTTTTTTTGAGACAGGGTCTCACTCCCTCACCCAGGCTGGAGTGCAGTGGAGTGAACACAGCTTACTGCAGCCTTTAACTCCTGGGCTCAAGCCATCCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGTAACCATGCCTAGCTAATGTTTTTGTATTTTTTGTAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAAGTGCTGGCCTCAAGCGATCCTCCCACCTCTGCCTCCCAAAGTGCTGGGATCGCAGGCGTGGGCCACTGCACTGGACCCCACTGAGCTTCCTTCCTTCCTTCCCTCCAGTGTGCCTCGGGCTTTCTTCCCTCCAGGCCTTTGCACAGGCTGTACCTCCGGCCAGGAACATTCTCCCCACTTCTCTTTCCTCGTCGTTTACTTTTTCCCATCCCTCAGATCAGCTTACACGTCCCCTCCTCCAGGAAGCTCTCTCTGAGTACCCCGAAGGCAGCTCAGGCCCTCGCTGGGCTTTGATAGTGCCTTGTGATGTCCACATCACAGCTGCCTCCCCATAGGTCCTACCCGGACGAGGAAGGCCCGAAACACTGGTCTGACTCACGCTACGAGCATGTCATGAAGTTGCGCCAGGCAGCCCTGAAATCACCTCGAGACATGTGGGCTGATTACATCCTGGTAAGTTTCTCAGCCGGCCGGATATGGATCACAGGCAGGTCTGGGTATCCCCAGGGAAGGCGGAGCAGCAGGATGCCAGGACCATCCTTAATGTTGTTTTGCAGAAGGGTAAACTGAGGCTTAGAGAGGGGAGATGAGTTGCTTGAGGTGATATGGTTGGTCAGTGGAGGAGGAGCTGGGATTCATTTGATCCTCAGCACTAGGAATGAATGGGCTTTTCTGTCCCCAGTTGTCCCCTGTGTTTGGACACTTGGGTCAAGTCCATTTTTATTTTTTTATTTTTTTGAGACAGAGACTCACTCTGGTGCCCAGGCTGGAGTGAAGTGCCGCAATATCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCCCGTGCCACAGCCTCCTGAGTAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTATTTTTATTTTTGTGGAAGCCAGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGGTCGAGACCAGCCTGGTCAATATGGTGAGACTCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGTGCCTGTAATCCCGGCTACCTGGGAGGCTGAGGCAGGAGGATTTCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGTCACTGGGCGACACAGTGAGACTCCATCTCATAAATAAATACATAAATAAATATTTTTAAAAAATAACAAATAAAAAATATTTTTGTAGAGACGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCCAACCCCTGGGCTCAAGTGATCTTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACCGTGCCTGGCCGTGTCACGTCTGTTTTTATCACCATCATATGTAATGGCCAAACCTTTGGGTCACTTCCAAGAAGCAGGAGGAAGGGGTCAGGGGCTGGGGGGTGGTGGCCACATTGAATTGCTGAGGCCTGACTTGCACTTCCTCCTCCTGTGGGGACATTGTCTCATGGGGAAGGGAACAGTTGAGTCTTTTTATTTTTTTCTCGAGCCAAGATCACGCCACTGCACTCCAACCTGGGCCACAGTATGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGACTTATAGGTTGAATATTACTATTATTTTTTAATTTGTATAAACTTATGGAGCACAAGTGTAATTCTGTTACATGCATAGATTGTGAAGTGGTGAAGTCAGAGATTTTGGGGCGTCCATCCCCTAAATAATATACATTGAACCCATTACACAGTTTTCTATGATCAACCCCAAATGTTATTTCAGCCTTCATACTTTTCTATATTCTCCTGATTTTCTTTTTTCTTGTTTTTTGAGACAGAGTCTCTGTTGCCCAGGTTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAGCCTCCTCCTCCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGCCCCCGCCATCATGCCTGGCTAATTTTTGTAATTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCTAAAGTCCTGACCTCAGGTGATCCAGCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACATCCAGCCCATCTCTTAAAACAAACAAACAAAAAGCAGAAAAGAAAAAGCAAAGAGTCAAGTGAGCAAAGTGATTACGATGCAGTGGTGGCTAGAGGTCCAACTACACAGGCCAGTGGAGGCACTTGGTGTCTACTTGGAGGGGAATGGGGAGCCATGGAGGGTGTGTGAGCAGGGGAGGTCTGTGTTCTGATTTGAGATTTTCAGAAGCCTCTGTGGACCAGGCGCGGTGGCTCATGCCTCTAAATTCAGTACTTTGAGTGGCTGAGGCAAGTGGATTGTTTGACTTCAGGAGTTTGAGACCAGCCTGGTCAACATGGT
Task1_train_26904
Here is a genetic alteration in COLGALT1 (collagen beta(1-O)galactosyltransferase 1) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Brain small vessel disease 3
TTTTGTATTTTTATTGGAGATGGGGTTTCACTGTGTTAACCTGGATGGCCTCGATCTCCTGACCTTGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCTAGTTTTTTGTATTTTTAGTGGGGACAGGGTTTCAGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGTGCCCGGCCTTCTTTTTTGCTTTTTTTGGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGTCACCATCATAGCTCGCTGCAGCCTTGAACTCCTGGGCAATCCTTCTGCCTCAGCCTCCCAAGGAGCTACAGATTTCCCCTTTTAAAAGCACACAAGCCATGTGGATTAGGGCCCACCCTAATGACCTCATTTTAACTCGATGACCTCTGTACACAACCCTGTGTCCAAATAGGATCATATCCTGGGGTACTGGTGGTTGGCACTGGGGAGACACAGTTCACCCCATGACATAGTGCATGATCTCATGACATCTCTTTGTGAAACCTCTCAGTGGCTTATTGGCCCATTTTATAGATGAGGAAAGCTGAGGCCCAGGCCAATCAAGAATATACAGCATGCCATCATTTCTTGGTTCATTCTACAAGCAATTACTGAGTGCCTGCTGTGTGCCAAGCCCCTGTGTTGGGCACTAGGGGCCCAGTGTGAGCAGACATACCTGGTGTCCTTCCCAAAGGGCTCACAACAGACAGGCACAGGGCCAGGGGGTTAGGGCAGCAAGGATGCGAGCTTTGGTGGTGCAAGTCCAGGTGCTGCTGGGGCCCAGAGGAGGTGCCTGGCTCAGCCTAGGGAGGTGGGAGTGGGGAGGGTGACCCCCATGCCCAGGGCATCATAGCTGAGAAGTAACGTTACAGAGCAGGGAAAGGAAGGGTATTTCAAGCAGGGATCCAGCATGTGCAAAGGCCCTGAGGTAGGAATGGGGGTTCTTTGGGTTGGCAGGGGCATAGAGGTGGGGCTGGGGGGTAGAGTGAAGCTGGAGCATGGGGCGTGGCCAGGGCTTAGAGGCAGGGTTGGGGGCGGAGTGAAGCTGGAGCCCAGGGCGTGGCCACGGCTGAGAGTCGGGGCTGGGAGCAGGGTGAAGCTGGGGCCTGGGGTGTGACCAGGACTTAGAAGCGGGGCTGGGGGTCGGAGCGAAGCTGTTGCATGGCCAGGGTTTAAAGGTGGGGCTGGGGGGGTGCAGGGTGAAGTTGGAGCCTGGGGCATGGCCAGGGCTTAGAGGCAAGGCTGGGGGAGGCTGTGGGGTGAAGCTGGGGCCTGGGGCGTGGCCAGGGCTGAGTGGTGCGGCTGGGGGGCAGGTTGAAGCTGTAGCCTGGGGTGTGGCCAGGGCTTAGAGGCGGGGCTAAGGGCAGGGTGAGGCTGGGACCTGGGGCGAGTCCAGGGTTGAGTAGCGGGGCCTTGGGCGCGGTGAAGCTGGGGCCTGGGGTGTGGCCAGGGCTGAGAGGCAGGACTGGGGGCGGGGTGAAGCTGGGGCCTGGGGTGTGGCCAGGGCTTTGGGCTGCTGTGCAGGGTTCAAATGACATGGGAGGGGCTCCTAGAGGGCAGCGCTGATGTGGGCGGAGCCAGGTCGACTTTGTGGGCCGAGCCAGTCTGACTGGGAGCCATGGAGTGGGTGGGGAAAGCGTGTTGGAGAGAGGCTGGAGGCTCCTTACCCCAGCGACTCCTCAACGTCTGTGCCCCACAGTGAAGCACCCGCCCGCAGAGCCCTCCCGCTTCATCTCGGCTCCCACCAAGACACCGGACAAGATGGGCTTCGACGAGGTGAGCTGGGCCTTCCCTGGAGGCGGGGCGGGGGCTGGAGGGCCCTTGTTTGCAGGGGCTGATCTGGCTGGGGACTCTCCGGGCTGCAGGTCTTCATGATCAACCTGAGGCGGCGGCAGGACCGGCGGGAGCGCATGCTGCGGGCGCTGCAGGCACAGGAGATCGAGTGCCGGCTGGTGGAGGCCGTGGACGGCAAGTGAGTCCGAGGCCTGGGGGTGGGGGGGCGGGTCCGCACGTGGATGTGGGTGTAGACCTCGCTGGTAGACGGCAAGTGATTCAGATGGGGGCGGGCGTGGTGTCCAAACAGATGTAGACCTCGTCAGTGGGCGTCCTGAAGGGGAAGTGAATGGGACCCTGGGGAAGGGGCAGATCCTCACAGTTGTAGACCATGGAAGGCAAGTGAGTCCTGACCCAGGGGAATGGGTAGGTTTGCATGCTGCCAGTGTAGACTGGTGGGGACTGTGGAGGGGTAAGTCAGTCAGACCCCAGGAGAGGAGGAGAGCAGGTTTGCCCGCGAGTGTATACCATGTGCAGGTGAGTGAGGCCCCATGTGCCCGGAAGGGGTGCCAGTGCTACAAGAGGTGGACCAGCTGCTCAACGCCGCAGGGGGTGGTGGAATGGCCGGGGATGGCAGAATGGCAGGCAGGGTGAACCTTCTTCGTGACCCTCTCCTCCTCCTCTCCAGAGCCATGAACACCAGCCAGGTGGAGGCGCTGGGGATCCAGATGCTGCCTGGCTACCGGGACCCCTACCACGGCCGGCCCCTCACCAAGGGTGAGCTGGGCTGCTTCCTGAGCCACTACAACATCTGGAAGGAGGTGTGTCCTGAGTGATGGGCGGGGCCAGAGTTATGACTCTAGATCTCATCGGAGATTTGGACGGGAAAGGGGTTGAAAGAGTTCCCCAAAGCCCCGGCTAGGCATCCAGCCTCAGCCATGGGACCCATGGCCTCTCTTTAGTGAATGATGCGCCACACCAGCTGTATCACCCCCAGGTGTACCTGCCATCCTTCCATTGCGCAAATGTGGAAACTGAGCCTGGGGGTAGGGGTGAGCCCTTTTGAGCAGCAGGTGGTGTCTGGGGCCTGGGACCTGTAAACAAATCCTCATTACTCCCAGCCTGGTCTCTGTGCTTGATGTTTAGTACTAGAAGTCATGGCCACAGAGCCACTTTAAACCAGCACCTGCCCAGTGCTGCTGGGGGCACTCACCAGCCCAGGCATCCTCATCCACCCTCAGAGGGAGAGGCTGTGATTGGAGGAGGGTGTCTGACTAGGCTTCGAACTTGGGCCATCAGGGCCGGGCATGGTGGCGCACACCTGTGGTCCCAACTATTTGGGAGGCTAAAGTGGGAGAGTGGCTTGAGCCCAGGAGTTAAGGCTGCAGTCAGCCAAGATCGTGCCACTGCACTGCAGACTGGACAGCAGAGCAAAACCGTGTCTCAGAAAAAAGAAAAATGGCTGGGCGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTAGACTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGTGGGCACCTGTAATCCCTCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCTGAAATCATGCCATTGCACTCCAGCCTGGGCGACAAGAGTGACACTCCATCTCAAAAAAAGAAAAATAAAATCCGGGCGTAGTGGCACATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGAATTACTTGAACCTGGGAGGCGGAGGTTGCAGTTGAGATCGTTCCACTGCACTCCAGCCTGGGCGACAGGGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACTTGTTATCGAATGTGAAGCCAAATGGGGGTGTGCGGCTGCAAGGCGGGAGGTGCATGAGGCGTGGGCATTTGAGGGGCTGGGAGGCCTTTCTCTTCTGAGATCCATTATGGACGGCAGAGGGCAGAGGTTTGGATGTCCAGATGTCCCTGGAGCTAGGAGAGGCAGGGAGATGCACTGGCTTCTCTACGGGTCTTTCAAACCTTCTCAAAGCAAAGCTCTGTGCTTTAGGGTCAGGCCTGGCCTTGGCCTCCCTGTGATGTGGCGGGGCTTCCTCCCTCAGGTGGTGGACCGGGGGCTGCAGAAATCGCT
TTTTGTATTTTTATTGGAGATGGGGTTTCACTGTGTTAACCTGGATGGCCTCGATCTCCTGACCTTGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCTAGTTTTTTGTATTTTTAGTGGGGACAGGGTTTCAGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGTGCCCGGCCTTCTTTTTTGCTTTTTTTGGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGTCACCATCATAGCTCGCTGCAGCCTTGAACTCCTGGGCAATCCTTCTGCCTCAGCCTCCCAAGGAGCTACAGATTTCCCCTTTTAAAAGCACACAAGCCATGTGGATTAGGGCCCACCCTAATGACCTCATTTTAACTCGATGACCTCTGTACACAACCCTGTGTCCAAATAGGATCATATCCTGGGGTACTGGTGGTTGGCACTGGGGAGACACAGTTCACCCCATGACATAGTGCATGATCTCATGACATCTCTTTGTGAAACCTCTCAGTGGCTTATTGGCCCATTTTATAGATGAGGAAAGCTGAGGCCCAGGCCAATCAAGAATATACAGCATGCCATCATTTCTTGGTTCATTCTACAAGCAATTACTGAGTGCCTGCTGTGTGCCAAGCCCCTGTGTTGGGCACTAGGGGCCCAGTGTGAGCAGACATACCTGGTGTCCTTCCCAAAGGGCTCACAACAGACAGGCACAGGGCCAGGGGGTTAGGGCAGCAAGGATGCGAGCTTTGGTGGTGCAAGTCCAGGTGCTGCTGGGGCCCAGAGGAGGTGCCTGGCTCAGCCTAGGGAGGTGGGAGTGGGGAGGGTGACCCCCATGCCCAGGGCATCATAGCTGAGAAGTAACGTTACAGAGCAGGGAAAGGAAGGGTATTTCAAGCAGGGATCCAGCATGTGCAAAGGCCCTGAGGTAGGAATGGGGGTTCTTTGGGTTGGCAGGGGCATAGAGGTGGGGCTGGGGGGTAGAGTGAAGCTGGAGCATGGGGCGTGGCCAGGGCTTAGAGGCAGGGTTGGGGGCGGAGTGAAGCTGGAGCCCAGGGCGTGGCCACGGCTGAGAGTCGGGGCTGGGAGCAGGGTGAAGCTGGGGCCTGGGGTGTGACCAGGACTTAGAAGCGGGGCTGGGGGTCGGAGCGAAGCTGTTGCATGGCCAGGGTTTAAAGGTGGGGCTGGGGGGGTGCAGGGTGAAGTTGGAGCCTGGGGCATGGCCAGGGCTTAGAGGCAAGGCTGGGGGAGGCTGTGGGGTGAAGCTGGGGCCTGGGGCGTGGCCAGGGCTGAGTGGTGCGGCTGGGGGGCAGGTTGAAGCTGTAGCCTGGGGTGTGGCCAGGGCTTAGAGGCGGGGCTAAGGGCAGGGTGAGGCTGGGACCTGGGGCGAGTCCAGGGTTGAGTAGCGGGGCCTTGGGCGCGGTGAAGCTGGGGCCTGGGGTGTGGCCAGGGCTGAGAGGCAGGACTGGGGGCGGGGTGAAGCTGGGGCCTGGGGTGTGGCCAGGGCTTTGGGCTGCTGTGCAGGGTTCAAATGACATGGGAGGGGCTCCTAGAGGGCAGCGCTGATGTGGGCGGAGCCAGGTCGACTTTGTGGGCCGAGCCAGTCTGACTGGGAGCCATGGAGTGGGTGGGGAAAGCGTGTTGGAGAGAGGCTGGAGGCTCCTTACCCCAGCGACTCCTCAACGTCTGTGCCCCACAGTGAAGCACCCGCCCGCAGAGCCCTCCCGCTTCATCTCGGCTCCCACCAAGACACCGGACAAGATGGGCTTCGACGAGGTGAGCTGGGCCTTCCCTGGAGGCGGGGCGGGGGCTGGAGGGCCCTTGTTTGCAGGGGCTGATCTGGCTGGGGACTCTCCGGGCTGCAGGTCTTCATGATCAACCTGAGGCGGCGGCAGGACCGGCGGGAGCGCATGCTGCGGGCGCTGCAGGCACAGGAGATCGAGTGCCGGCTGGTGGAGGCCGTGGACCGCAAGTGAGTCCGAGGCCTGGGGGTGGGGGGGCGGGTCCGCACGTGGATGTGGGTGTAGACCTCGCTGGTAGACGGCAAGTGATTCAGATGGGGGCGGGCGTGGTGTCCAAACAGATGTAGACCTCGTCAGTGGGCGTCCTGAAGGGGAAGTGAATGGGACCCTGGGGAAGGGGCAGATCCTCACAGTTGTAGACCATGGAAGGCAAGTGAGTCCTGACCCAGGGGAATGGGTAGGTTTGCATGCTGCCAGTGTAGACTGGTGGGGACTGTGGAGGGGTAAGTCAGTCAGACCCCAGGAGAGGAGGAGAGCAGGTTTGCCCGCGAGTGTATACCATGTGCAGGTGAGTGAGGCCCCATGTGCCCGGAAGGGGTGCCAGTGCTACAAGAGGTGGACCAGCTGCTCAACGCCGCAGGGGGTGGTGGAATGGCCGGGGATGGCAGAATGGCAGGCAGGGTGAACCTTCTTCGTGACCCTCTCCTCCTCCTCTCCAGAGCCATGAACACCAGCCAGGTGGAGGCGCTGGGGATCCAGATGCTGCCTGGCTACCGGGACCCCTACCACGGCCGGCCCCTCACCAAGGGTGAGCTGGGCTGCTTCCTGAGCCACTACAACATCTGGAAGGAGGTGTGTCCTGAGTGATGGGCGGGGCCAGAGTTATGACTCTAGATCTCATCGGAGATTTGGACGGGAAAGGGGTTGAAAGAGTTCCCCAAAGCCCCGGCTAGGCATCCAGCCTCAGCCATGGGACCCATGGCCTCTCTTTAGTGAATGATGCGCCACACCAGCTGTATCACCCCCAGGTGTACCTGCCATCCTTCCATTGCGCAAATGTGGAAACTGAGCCTGGGGGTAGGGGTGAGCCCTTTTGAGCAGCAGGTGGTGTCTGGGGCCTGGGACCTGTAAACAAATCCTCATTACTCCCAGCCTGGTCTCTGTGCTTGATGTTTAGTACTAGAAGTCATGGCCACAGAGCCACTTTAAACCAGCACCTGCCCAGTGCTGCTGGGGGCACTCACCAGCCCAGGCATCCTCATCCACCCTCAGAGGGAGAGGCTGTGATTGGAGGAGGGTGTCTGACTAGGCTTCGAACTTGGGCCATCAGGGCCGGGCATGGTGGCGCACACCTGTGGTCCCAACTATTTGGGAGGCTAAAGTGGGAGAGTGGCTTGAGCCCAGGAGTTAAGGCTGCAGTCAGCCAAGATCGTGCCACTGCACTGCAGACTGGACAGCAGAGCAAAACCGTGTCTCAGAAAAAAGAAAAATGGCTGGGCGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTAGACTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGTGGGCACCTGTAATCCCTCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCTGAAATCATGCCATTGCACTCCAGCCTGGGCGACAAGAGTGACACTCCATCTCAAAAAAAGAAAAATAAAATCCGGGCGTAGTGGCACATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGAATTACTTGAACCTGGGAGGCGGAGGTTGCAGTTGAGATCGTTCCACTGCACTCCAGCCTGGGCGACAGGGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAACTTGTTATCGAATGTGAAGCCAAATGGGGGTGTGCGGCTGCAAGGCGGGAGGTGCATGAGGCGTGGGCATTTGAGGGGCTGGGAGGCCTTTCTCTTCTGAGATCCATTATGGACGGCAGAGGGCAGAGGTTTGGATGTCCAGATGTCCCTGGAGCTAGGAGAGGCAGGGAGATGCACTGGCTTCTCTACGGGTCTTTCAAACCTTCTCAAAGCAAAGCTCTGTGCTTTAGGGTCAGGCCTGGCCTTGGCCTCCCTGTGATGTGGCGGGGCTTCCTCCCTCAGGTGGTGGACCGGGGGCTGCAGAAATCGCT
Task1_train_26905
This sequence change occurs on Chromosome 19, altering FCHO1 (FCH and mu domain containing endocytic adaptor 1). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Immunodeficiency 76
ATTACAGGCACCTGCCACCATGCTTGGCTAATTTTGCATTTTTAGTAAACACGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAACTCAAGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCGCCTAACCTCCCTGCCCCATCTTAATGAGGAGCTCCTAAAAGCTCAGAGGGGGCAGTGACTTGCCTGGGTCACACAGTGCAGCCCTGGCCTCCCCCACCATGACAACCCCAGAAATTGGAGTAAAGAGATTTTGTGAAGGCATTCGCAGGCACCAGGGTAGAAATACTCAGTTCCCAGTGGCACTAACAGGTAACAGCAGAATCATTTGTTTATTTATTCAACGAACTCAAATGCCCTTTCTGTCTCTCATTCTGTGCTGGGCTTTGGTGGGTCCTGGGAGAGAACTCAAACCTGGACCCTAATTTGGGTTCTCATAGGCGGAATTTCCATGTTGACAAGAACAGAAAACACAACTACAGTGACTTAAGCAACGGGGACTGTATTGGCTTATAAGATCAAATGATTATGGGGGAATGTGGCTTTCAGGGTTGGTTTGATCCAGCAACTCAATTTAACACACTTTTTTTTTTTTGTAGCTAGTATAAATGGGATCACTTTCTTGATTTCTTTTCAGCTATATTTTATTAATGGTGTATAGAAACGCTACTGATTTTCATGTTGATATTTGTATTTTGCAATTTAACTGAATTTGTTTATCAGTTCTAGGAGTTTTTTGGTGGTGTGTTTAGGCCTTCCTATACATAAGTTCATGTTGCAAAGAGAGACAATTTGACTTCTTTTCATGTATATACATATATATATATATATATATACACACACACTTCCCCCCCGCCCTGAGACGGAGTCTTCCTCTGTTGCCCAGAGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCACGTTCAAGCAATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGATTACAGGGGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGCTGGCCAGGCTGATCCCAAACTCCTGACCTCATGGTCCGCCCGCCTCAGCCTCCCAAGGTGCTAGGATTACAGGCGTGACCCACTCCAATTTATTTTTATTTTTATTTCATTCATTCATTCATTCATTCATTCATTTATTTTGAGACAGTCTTGCTCTGATACCCAGGCTGGAGTGCAGTGGTAGGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGAACCACCCACCTTGGCTTCTCAAAGTGTTGGGATTACGGGCGTGAGCCACCGTGCCCAGCTCAACACACTTTTTTTTTTTTTTAAATATAAAAGCCCTCTGGTTCAGCTTCTTTCTAAGGTTCACGGTTTCCATTTGACTTCCAGTATCCCCTGTGGCCACATAATTCCTCATTTATGGAAAGACACAAAGAGAAAAGGGGAGGAGACTGAGACAGAAACGGCAGAGAGACTCAGAAAAACGGAGAGAAAGACAGAGACACAAAGACAGAAGGAGACAAAGACACAGAACAAATGAGATTCCTCCCCAGCAACTATAGGACAAAAAGAAAATCCCAGGCTTCTCTCTGATTGGACAAATTTAAGGTCCATAGACAATCCCTATGGCCCAGGGGAAATGCAGCAAGCTGATTCGCTCAGGCCCGAACAAGTCCCTACAGCCAAGGGGATGGACTTCTGCTCCTTGGCCACGCCCCCGTTGCTAAGCAACTATGATGTTCTCTCCATCCTTTCTCAATCTCTATTCCCATCCCCTGCAGGGCGAGAAAAATCATGGCTTTGAGGTCCTGTACCACAGCGTGAAGCAGGGGCCCATCTCCACCAAGGAGCTGGCGGACTTCATCCGGGAGAGGTGAGGTCCCCAAGCCCCATCCACCAGAGGCCACGCCCACCATCCTGTAGTCACGCCCACCTAATGGCTACGCCCTGCATGGTCAGGGGCTAGAACCCTGGGGATTCCAGGAACCAGAGGGGCTCGAAAATCCTGGAAATGACCGATTCTCAACCCGGTCAGGCCCATATCTCCTTTTAAACAACAATCACCTGATTTCGAAAGCTCCCCTCCTCAAAAGAGGATGATATAACCTACTCAAGGTTGGAATTTTTTTTTTTGGAGACAAGATCTTGCTTTGTTGCCCAGGCTAGAGTGCAGTGACCCAATCATAGCTCACTGCAGCCTCGAACTCCTGAGTTCAAGAGATCCTCCTACCTCAGCTCCCGAGTAGCTGGGACTATAGGCATGTACCACCACATCTGGCTTTTTTTTTTTTTTTTTTTTTTAAACAGAGTTTTGCTCTTGTTGCCCAGGCTAGAGTGCAATGGTGCAGTCTCGGCTCACTGTAACCTCTGCCTCCCGGGTTCCAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCCTGCCACCACGTCTGGCTAATTTTTTTATTTTTAGTAGAGACGAGGTTTCACTATGTTGGCCAGGCGGGTCTCAAACTCCTGACCTCAGGCGATCCGCCCGCCTCAGCCTCCAAAAGTGGTGGAATTACAGATGTAAGCCACTGCACTCTGCCTTTTTTTTTTTTTTTCTTTTTGGAGACAGAGTCTCACTTTGTTGCCCAGGGTGATCTGATCATAGCTCACTGCAGCCTCGACCTACCGGGCCCAAGCGATCCTCCCACCTCAGGATCCTGAGTAGCTGGGACTACAGGCATGCACCACCACACCTATCTAAGTTAAAAAAAATTTTTTTTGTAGAGAAGGAGTCTCATTATATTGCCCAGGGTGGTCTCGAACCCCTGGGTTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCATGCCCAGCCTACTACTGTTGTTAATAAAATATATTACGTAAGAAAAAATCTTCTATGAATTTTCAAAACATCCCTCAGAGTGTTGTGTCATCCCCCCATTATGGAAAGCCACTGCTAAGGTGTTTGAGATGGGGAAACTGAGGCCCAGAGGAGCAGTGCCTCTCTCAAGGGTGTCTGAAAGCTTCTTCATCTTTTTTTTTTTTTGCGATGGAGTCTTGCTTTGTCACCCAAGCTGGAGTGCAGTGGCACGATCTCAGCTCACCGCAACCTCCACCTCCTAGGTTCAAGCGATTTTCATGCCTCAACTTCCCCAGTAGCTGGGAATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAGGTGATCCGTCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAACCACTGCGCCCGGGCAGTTTCTCCATCTTTACCTCATTCTCCTCCCCAGGGCCACCATCGAGGAGACCTACTCGAAGGCGATGGCGAAACTCTCCAAGCTGGCCAGCAACGGGACCCCCATGGGGTGAGTGGGGTAGGGGTCACCAACATGGGGACATTGGGAGCCTCCTCCTTGGTGGACATCTCTTCACACTCGGTGCATGTAGAATAGAGTGTCATCCACCTCGATTATGGGGCTATTTGGATAGAGGGATGTATATCATTCATTCACACACTAGCTCATTCATTCATTCCACAAATATTTTTTGAGTGCCTTCTGTGTGCCAAGCACCAGCAGCAACCCAGACAGATAAAACCCCAGCCACCTTCATGCAATGTACATCTGGGCTGTGTGAGAAGAGAGATGTTAAATACAAACAAAAACATTTTTTTTCTGAGGTGAAAAGTGCTGGGAAGGGGGCCAGGTGCGGTGGCTCATGCCTGTACTCCCAGCACTTTGGGAGGCTGAAGTGGGCGGATCACCGGAGGTCAGGAGTTCAAGACCAGCCTGGGCAAC
ATTACAGGCACCTGCCACCATGCTTGGCTAATTTTGCATTTTTAGTAAACACGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAACTCAAGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCGCCTAACCTCCCTGCCCCATCTTAATGAGGAGCTCCTAAAAGCTCAGAGGGGGCAGTGACTTGCCTGGGTCACACAGTGCAGCCCTGGCCTCCCCCACCATGACAACCCCAGAAATTGGAGTAAAGAGATTTTGTGAAGGCATTCGCAGGCACCAGGGTAGAAATACTCAGTTCCCAGTGGCACTAACAGGTAACAGCAGAATCATTTGTTTATTTATTCAACGAACTCAAATGCCCTTTCTGTCTCTCATTCTGTGCTGGGCTTTGGTGGGTCCTGGGAGAGAACTCAAACCTGGACCCTAATTTGGGTTCTCATAGGCGGAATTTCCATGTTGACAAGAACAGAAAACACAACTACAGTGACTTAAGCAACGGGGACTGTATTGGCTTATAAGATCAAATGATTATGGGGGAATGTGGCTTTCAGGGTTGGTTTGATCCAGCAACTCAATTTAACACACTTTTTTTTTTTTGTAGCTAGTATAAATGGGATCACTTTCTTGATTTCTTTTCAGCTATATTTTATTAATGGTGTATAGAAACGCTACTGATTTTCATGTTGATATTTGTATTTTGCAATTTAACTGAATTTGTTTATCAGTTCTAGGAGTTTTTTGGTGGTGTGTTTAGGCCTTCCTATACATAAGTTCATGTTGCAAAGAGAGACAATTTGACTTCTTTTCATGTATATACATATATATATATATATATATACACACACACTTCCCCCCCGCCCTGAGACGGAGTCTTCCTCTGTTGCCCAGAGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCACGTTCAAGCAATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGATTACAGGGGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGCTGGCCAGGCTGATCCCAAACTCCTGACCTCATGGTCCGCCCGCCTCAGCCTCCCAAGGTGCTAGGATTACAGGCGTGACCCACTCCAATTTATTTTTATTTTTATTTCATTCATTCATTCATTCATTCATTCATTTATTTTGAGACAGTCTTGCTCTGATACCCAGGCTGGAGTGCAGTGGTAGGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGAACCACCCACCTTGGCTTCTCAAAGTGTTGGGATTACGGGCGTGAGCCACCGTGCCCAGCTCAACACACTTTTTTTTTTTTTTAAATATAAAAGCCCTCTGGTTCAGCTTCTTTCTAAGGTTCACGGTTTCCATTTGACTTCCAGTATCCCCTGTGGCCACATAATTCCTCATTTATGGAAAGACACAAAGAGAAAAGGGGAGGAGACTGAGACAGAAACGGCAGAGAGACTCAGAAAAACGGAGAGAAAGACAGAGACACAAAGACAGAAGGAGACAAAGACACAGAACAAATGAGATTCCTCCCCAGCAACTATAGGACAAAAAGAAAATCCCAGGCTTCTCTCTGATTGGACAAATTTAAGGTCCATAGACAATCCCTATGGCCCAGGGGAAATGCAGCAAGCTGATTCGCTCAGGCCCGAACAAGTCCCTACAGCCAAGGGGATGGACTTCTGCTCCTTGGCCACGCCCCCGTTGCTAAGCAACTATGATGTTCTCTCCATCCTTTCTCAATCTCTATTCCCATCCCCTGCAGGGCGAGAAAAATCATGGCTTTGAGGTCCTGTACCACAGCGTGAAGCAGGGGCCCATCTCCACCAAGGAGCTGCCGGACTTCATCCGGGAGAGGTGAGGTCCCCAAGCCCCATCCACCAGAGGCCACGCCCACCATCCTGTAGTCACGCCCACCTAATGGCTACGCCCTGCATGGTCAGGGGCTAGAACCCTGGGGATTCCAGGAACCAGAGGGGCTCGAAAATCCTGGAAATGACCGATTCTCAACCCGGTCAGGCCCATATCTCCTTTTAAACAACAATCACCTGATTTCGAAAGCTCCCCTCCTCAAAAGAGGATGATATAACCTACTCAAGGTTGGAATTTTTTTTTTTGGAGACAAGATCTTGCTTTGTTGCCCAGGCTAGAGTGCAGTGACCCAATCATAGCTCACTGCAGCCTCGAACTCCTGAGTTCAAGAGATCCTCCTACCTCAGCTCCCGAGTAGCTGGGACTATAGGCATGTACCACCACATCTGGCTTTTTTTTTTTTTTTTTTTTTTAAACAGAGTTTTGCTCTTGTTGCCCAGGCTAGAGTGCAATGGTGCAGTCTCGGCTCACTGTAACCTCTGCCTCCCGGGTTCCAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCCTGCCACCACGTCTGGCTAATTTTTTTATTTTTAGTAGAGACGAGGTTTCACTATGTTGGCCAGGCGGGTCTCAAACTCCTGACCTCAGGCGATCCGCCCGCCTCAGCCTCCAAAAGTGGTGGAATTACAGATGTAAGCCACTGCACTCTGCCTTTTTTTTTTTTTTTCTTTTTGGAGACAGAGTCTCACTTTGTTGCCCAGGGTGATCTGATCATAGCTCACTGCAGCCTCGACCTACCGGGCCCAAGCGATCCTCCCACCTCAGGATCCTGAGTAGCTGGGACTACAGGCATGCACCACCACACCTATCTAAGTTAAAAAAAATTTTTTTTGTAGAGAAGGAGTCTCATTATATTGCCCAGGGTGGTCTCGAACCCCTGGGTTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCATGCCCAGCCTACTACTGTTGTTAATAAAATATATTACGTAAGAAAAAATCTTCTATGAATTTTCAAAACATCCCTCAGAGTGTTGTGTCATCCCCCCATTATGGAAAGCCACTGCTAAGGTGTTTGAGATGGGGAAACTGAGGCCCAGAGGAGCAGTGCCTCTCTCAAGGGTGTCTGAAAGCTTCTTCATCTTTTTTTTTTTTTGCGATGGAGTCTTGCTTTGTCACCCAAGCTGGAGTGCAGTGGCACGATCTCAGCTCACCGCAACCTCCACCTCCTAGGTTCAAGCGATTTTCATGCCTCAACTTCCCCAGTAGCTGGGAATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAGGTGATCCGTCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAACCACTGCGCCCGGGCAGTTTCTCCATCTTTACCTCATTCTCCTCCCCAGGGCCACCATCGAGGAGACCTACTCGAAGGCGATGGCGAAACTCTCCAAGCTGGCCAGCAACGGGACCCCCATGGGGTGAGTGGGGTAGGGGTCACCAACATGGGGACATTGGGAGCCTCCTCCTTGGTGGACATCTCTTCACACTCGGTGCATGTAGAATAGAGTGTCATCCACCTCGATTATGGGGCTATTTGGATAGAGGGATGTATATCATTCATTCACACACTAGCTCATTCATTCATTCCACAAATATTTTTTGAGTGCCTTCTGTGTGCCAAGCACCAGCAGCAACCCAGACAGATAAAACCCCAGCCACCTTCATGCAATGTACATCTGGGCTGTGTGAGAAGAGAGATGTTAAATACAAACAAAAACATTTTTTTTCTGAGGTGAAAAGTGCTGGGAAGGGGGCCAGGTGCGGTGGCTCATGCCTGTACTCCCAGCACTTTGGGAGGCTGAAGTGGGCGGATCACCGGAGGTCAGGAGTTCAAGACCAGCCTGGGCAAC
Task1_train_26906
This mutation occurs in FCHO1 (FCH and mu domain containing endocytic adaptor 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Severe congenital neutropenia
ATTACAGGCACCTGCCACCATGCTTGGCTAATTTTGCATTTTTAGTAAACACGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAACTCAAGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCGCCTAACCTCCCTGCCCCATCTTAATGAGGAGCTCCTAAAAGCTCAGAGGGGGCAGTGACTTGCCTGGGTCACACAGTGCAGCCCTGGCCTCCCCCACCATGACAACCCCAGAAATTGGAGTAAAGAGATTTTGTGAAGGCATTCGCAGGCACCAGGGTAGAAATACTCAGTTCCCAGTGGCACTAACAGGTAACAGCAGAATCATTTGTTTATTTATTCAACGAACTCAAATGCCCTTTCTGTCTCTCATTCTGTGCTGGGCTTTGGTGGGTCCTGGGAGAGAACTCAAACCTGGACCCTAATTTGGGTTCTCATAGGCGGAATTTCCATGTTGACAAGAACAGAAAACACAACTACAGTGACTTAAGCAACGGGGACTGTATTGGCTTATAAGATCAAATGATTATGGGGGAATGTGGCTTTCAGGGTTGGTTTGATCCAGCAACTCAATTTAACACACTTTTTTTTTTTTGTAGCTAGTATAAATGGGATCACTTTCTTGATTTCTTTTCAGCTATATTTTATTAATGGTGTATAGAAACGCTACTGATTTTCATGTTGATATTTGTATTTTGCAATTTAACTGAATTTGTTTATCAGTTCTAGGAGTTTTTTGGTGGTGTGTTTAGGCCTTCCTATACATAAGTTCATGTTGCAAAGAGAGACAATTTGACTTCTTTTCATGTATATACATATATATATATATATATATACACACACACTTCCCCCCCGCCCTGAGACGGAGTCTTCCTCTGTTGCCCAGAGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCACGTTCAAGCAATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGATTACAGGGGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGCTGGCCAGGCTGATCCCAAACTCCTGACCTCATGGTCCGCCCGCCTCAGCCTCCCAAGGTGCTAGGATTACAGGCGTGACCCACTCCAATTTATTTTTATTTTTATTTCATTCATTCATTCATTCATTCATTCATTTATTTTGAGACAGTCTTGCTCTGATACCCAGGCTGGAGTGCAGTGGTAGGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGAACCACCCACCTTGGCTTCTCAAAGTGTTGGGATTACGGGCGTGAGCCACCGTGCCCAGCTCAACACACTTTTTTTTTTTTTTAAATATAAAAGCCCTCTGGTTCAGCTTCTTTCTAAGGTTCACGGTTTCCATTTGACTTCCAGTATCCCCTGTGGCCACATAATTCCTCATTTATGGAAAGACACAAAGAGAAAAGGGGAGGAGACTGAGACAGAAACGGCAGAGAGACTCAGAAAAACGGAGAGAAAGACAGAGACACAAAGACAGAAGGAGACAAAGACACAGAACAAATGAGATTCCTCCCCAGCAACTATAGGACAAAAAGAAAATCCCAGGCTTCTCTCTGATTGGACAAATTTAAGGTCCATAGACAATCCCTATGGCCCAGGGGAAATGCAGCAAGCTGATTCGCTCAGGCCCGAACAAGTCCCTACAGCCAAGGGGATGGACTTCTGCTCCTTGGCCACGCCCCCGTTGCTAAGCAACTATGATGTTCTCTCCATCCTTTCTCAATCTCTATTCCCATCCCCTGCAGGGCGAGAAAAATCATGGCTTTGAGGTCCTGTACCACAGCGTGAAGCAGGGGCCCATCTCCACCAAGGAGCTGGCGGACTTCATCCGGGAGAGGTGAGGTCCCCAAGCCCCATCCACCAGAGGCCACGCCCACCATCCTGTAGTCACGCCCACCTAATGGCTACGCCCTGCATGGTCAGGGGCTAGAACCCTGGGGATTCCAGGAACCAGAGGGGCTCGAAAATCCTGGAAATGACCGATTCTCAACCCGGTCAGGCCCATATCTCCTTTTAAACAACAATCACCTGATTTCGAAAGCTCCCCTCCTCAAAAGAGGATGATATAACCTACTCAAGGTTGGAATTTTTTTTTTTGGAGACAAGATCTTGCTTTGTTGCCCAGGCTAGAGTGCAGTGACCCAATCATAGCTCACTGCAGCCTCGAACTCCTGAGTTCAAGAGATCCTCCTACCTCAGCTCCCGAGTAGCTGGGACTATAGGCATGTACCACCACATCTGGCTTTTTTTTTTTTTTTTTTTTTTAAACAGAGTTTTGCTCTTGTTGCCCAGGCTAGAGTGCAATGGTGCAGTCTCGGCTCACTGTAACCTCTGCCTCCCGGGTTCCAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCCTGCCACCACGTCTGGCTAATTTTTTTATTTTTAGTAGAGACGAGGTTTCACTATGTTGGCCAGGCGGGTCTCAAACTCCTGACCTCAGGCGATCCGCCCGCCTCAGCCTCCAAAAGTGGTGGAATTACAGATGTAAGCCACTGCACTCTGCCTTTTTTTTTTTTTTTCTTTTTGGAGACAGAGTCTCACTTTGTTGCCCAGGGTGATCTGATCATAGCTCACTGCAGCCTCGACCTACCGGGCCCAAGCGATCCTCCCACCTCAGGATCCTGAGTAGCTGGGACTACAGGCATGCACCACCACACCTATCTAAGTTAAAAAAAATTTTTTTTGTAGAGAAGGAGTCTCATTATATTGCCCAGGGTGGTCTCGAACCCCTGGGTTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCATGCCCAGCCTACTACTGTTGTTAATAAAATATATTACGTAAGAAAAAATCTTCTATGAATTTTCAAAACATCCCTCAGAGTGTTGTGTCATCCCCCCATTATGGAAAGCCACTGCTAAGGTGTTTGAGATGGGGAAACTGAGGCCCAGAGGAGCAGTGCCTCTCTCAAGGGTGTCTGAAAGCTTCTTCATCTTTTTTTTTTTTTGCGATGGAGTCTTGCTTTGTCACCCAAGCTGGAGTGCAGTGGCACGATCTCAGCTCACCGCAACCTCCACCTCCTAGGTTCAAGCGATTTTCATGCCTCAACTTCCCCAGTAGCTGGGAATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAGGTGATCCGTCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAACCACTGCGCCCGGGCAGTTTCTCCATCTTTACCTCATTCTCCTCCCCAGGGCCACCATCGAGGAGACCTACTCGAAGGCGATGGCGAAACTCTCCAAGCTGGCCAGCAACGGGACCCCCATGGGGTGAGTGGGGTAGGGGTCACCAACATGGGGACATTGGGAGCCTCCTCCTTGGTGGACATCTCTTCACACTCGGTGCATGTAGAATAGAGTGTCATCCACCTCGATTATGGGGCTATTTGGATAGAGGGATGTATATCATTCATTCACACACTAGCTCATTCATTCATTCCACAAATATTTTTTGAGTGCCTTCTGTGTGCCAAGCACCAGCAGCAACCCAGACAGATAAAACCCCAGCCACCTTCATGCAATGTACATCTGGGCTGTGTGAGAAGAGAGATGTTAAATACAAACAAAAACATTTTTTTTCTGAGGTGAAAAGTGCTGGGAAGGGGGCCAGGTGCGGTGGCTCATGCCTGTACTCCCAGCACTTTGGGAGGCTGAAGTGGGCGGATCACCGGAGGTCAGGAGTTCAAGACCAGCCTGGGCAAC
ATTACAGGCACCTGCCACCATGCTTGGCTAATTTTGCATTTTTAGTAAACACGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAACTCAAGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCGCCTAACCTCCCTGCCCCATCTTAATGAGGAGCTCCTAAAAGCTCAGAGGGGGCAGTGACTTGCCTGGGTCACACAGTGCAGCCCTGGCCTCCCCCACCATGACAACCCCAGAAATTGGAGTAAAGAGATTTTGTGAAGGCATTCGCAGGCACCAGGGTAGAAATACTCAGTTCCCAGTGGCACTAACAGGTAACAGCAGAATCATTTGTTTATTTATTCAACGAACTCAAATGCCCTTTCTGTCTCTCATTCTGTGCTGGGCTTTGGTGGGTCCTGGGAGAGAACTCAAACCTGGACCCTAATTTGGGTTCTCATAGGCGGAATTTCCATGTTGACAAGAACAGAAAACACAACTACAGTGACTTAAGCAACGGGGACTGTATTGGCTTATAAGATCAAATGATTATGGGGGAATGTGGCTTTCAGGGTTGGTTTGATCCAGCAACTCAATTTAACACACTTTTTTTTTTTTGTAGCTAGTATAAATGGGATCACTTTCTTGATTTCTTTTCAGCTATATTTTATTAATGGTGTATAGAAACGCTACTGATTTTCATGTTGATATTTGTATTTTGCAATTTAACTGAATTTGTTTATCAGTTCTAGGAGTTTTTTGGTGGTGTGTTTAGGCCTTCCTATACATAAGTTCATGTTGCAAAGAGAGACAATTTGACTTCTTTTCATGTATATACATATATATATATATATATATACACACACACTTCCCCCCCGCCCTGAGACGGAGTCTTCCTCTGTTGCCCAGAGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCACGTTCAAGCAATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGATTACAGGGGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGCTGGCCAGGCTGATCCCAAACTCCTGACCTCATGGTCCGCCCGCCTCAGCCTCCCAAGGTGCTAGGATTACAGGCGTGACCCACTCCAATTTATTTTTATTTTTATTTCATTCATTCATTCATTCATTCATTCATTTATTTTGAGACAGTCTTGCTCTGATACCCAGGCTGGAGTGCAGTGGTAGGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGAACCACCCACCTTGGCTTCTCAAAGTGTTGGGATTACGGGCGTGAGCCACCGTGCCCAGCTCAACACACTTTTTTTTTTTTTTAAATATAAAAGCCCTCTGGTTCAGCTTCTTTCTAAGGTTCACGGTTTCCATTTGACTTCCAGTATCCCCTGTGGCCACATAATTCCTCATTTATGGAAAGACACAAAGAGAAAAGGGGAGGAGACTGAGACAGAAACGGCAGAGAGACTCAGAAAAACGGAGAGAAAGACAGAGACACAAAGACAGAAGGAGACAAAGACACAGAACAAATGAGATTCCTCCCCAGCAACTATAGGACAAAAAGAAAATCCCAGGCTTCTCTCTGATTGGACAAATTTAAGGTCCATAGACAATCCCTATGGCCCAGGGGAAATGCAGCAAGCTGATTCGCTCAGGCCCGAACAAGTCCCTACAGCCAAGGGGATGGACTTCTGCTCCTTGGCCACGCCCCCGTTGCTAAGCAACTATGATGTTCTCTCCATCCTTTCTCAATCTCTATTCCCATCCCCTGCAGGGCGAGAAAAATCATGGCTTTGAGGTCCTGTACCACAGCGTGAAGCAGGGGCCCATCTCCACCAAGGAGCTGCCGGACTTCATCCGGGAGAGGTGAGGTCCCCAAGCCCCATCCACCAGAGGCCACGCCCACCATCCTGTAGTCACGCCCACCTAATGGCTACGCCCTGCATGGTCAGGGGCTAGAACCCTGGGGATTCCAGGAACCAGAGGGGCTCGAAAATCCTGGAAATGACCGATTCTCAACCCGGTCAGGCCCATATCTCCTTTTAAACAACAATCACCTGATTTCGAAAGCTCCCCTCCTCAAAAGAGGATGATATAACCTACTCAAGGTTGGAATTTTTTTTTTTGGAGACAAGATCTTGCTTTGTTGCCCAGGCTAGAGTGCAGTGACCCAATCATAGCTCACTGCAGCCTCGAACTCCTGAGTTCAAGAGATCCTCCTACCTCAGCTCCCGAGTAGCTGGGACTATAGGCATGTACCACCACATCTGGCTTTTTTTTTTTTTTTTTTTTTTAAACAGAGTTTTGCTCTTGTTGCCCAGGCTAGAGTGCAATGGTGCAGTCTCGGCTCACTGTAACCTCTGCCTCCCGGGTTCCAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCCTGCCACCACGTCTGGCTAATTTTTTTATTTTTAGTAGAGACGAGGTTTCACTATGTTGGCCAGGCGGGTCTCAAACTCCTGACCTCAGGCGATCCGCCCGCCTCAGCCTCCAAAAGTGGTGGAATTACAGATGTAAGCCACTGCACTCTGCCTTTTTTTTTTTTTTTCTTTTTGGAGACAGAGTCTCACTTTGTTGCCCAGGGTGATCTGATCATAGCTCACTGCAGCCTCGACCTACCGGGCCCAAGCGATCCTCCCACCTCAGGATCCTGAGTAGCTGGGACTACAGGCATGCACCACCACACCTATCTAAGTTAAAAAAAATTTTTTTTGTAGAGAAGGAGTCTCATTATATTGCCCAGGGTGGTCTCGAACCCCTGGGTTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCATGCCCAGCCTACTACTGTTGTTAATAAAATATATTACGTAAGAAAAAATCTTCTATGAATTTTCAAAACATCCCTCAGAGTGTTGTGTCATCCCCCCATTATGGAAAGCCACTGCTAAGGTGTTTGAGATGGGGAAACTGAGGCCCAGAGGAGCAGTGCCTCTCTCAAGGGTGTCTGAAAGCTTCTTCATCTTTTTTTTTTTTTGCGATGGAGTCTTGCTTTGTCACCCAAGCTGGAGTGCAGTGGCACGATCTCAGCTCACCGCAACCTCCACCTCCTAGGTTCAAGCGATTTTCATGCCTCAACTTCCCCAGTAGCTGGGAATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAGGTGATCCGTCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAACCACTGCGCCCGGGCAGTTTCTCCATCTTTACCTCATTCTCCTCCCCAGGGCCACCATCGAGGAGACCTACTCGAAGGCGATGGCGAAACTCTCCAAGCTGGCCAGCAACGGGACCCCCATGGGGTGAGTGGGGTAGGGGTCACCAACATGGGGACATTGGGAGCCTCCTCCTTGGTGGACATCTCTTCACACTCGGTGCATGTAGAATAGAGTGTCATCCACCTCGATTATGGGGCTATTTGGATAGAGGGATGTATATCATTCATTCACACACTAGCTCATTCATTCATTCCACAAATATTTTTTGAGTGCCTTCTGTGTGCCAAGCACCAGCAGCAACCCAGACAGATAAAACCCCAGCCACCTTCATGCAATGTACATCTGGGCTGTGTGAGAAGAGAGATGTTAAATACAAACAAAAACATTTTTTTTCTGAGGTGAAAAGTGCTGGGAAGGGGGCCAGGTGCGGTGGCTCATGCCTGTACTCCCAGCACTTTGGGAGGCTGAAGTGGGCGGATCACCGGAGGTCAGGAGTTCAAGACCAGCCTGGGCAAC
Task1_train_26907
Given this context: Chromosome 19, gene FCHO1 (FCH and mu domain containing endocytic adaptor 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Immunodeficiency 76
GCAGTCCTGTCTGGCACCTTTTCTGCAACACCAGGACTTCAGACCCATTGGGGGTCTCTGCAGAAAAGCCCACCTCCTAAGATTTTGGCTGAGTTTGTGCCCCTGGGGAGGCCCCAGAGGCCCCGGGCAGCATCTCAGCAGTGCCTCTTTGTACTCGCTCCTAGACCTGATGCCTGCACCTGCTGACCCCACAGCCAGGGAGGGCCTGGCAGCCCCACCCAGGAGACTTCGCTCTAGGAAGGTGTCCTGCCCTCTCACACGTAGCAATGGGGACCTGGTAGGTGAGGGGGCGTGGCAGGAGCTGGACTGGGGGTCGCGTCTGGGGTCCGCTTTTGGGCACTGGTCCTGGGGCACTCACAGCCAAGATTGTCTCTTTCCCTTCCAGTCTCGTTCCCTGAGCCCCTCCCCACTGGGCTCTTCAGCCGCCAGCACTGCCTTGGAACGGCCCAGCTTCTTATCCCAGACAGGACACGGTATGTGAGGGCGGTCCTGGGCCTGGCTTTGGGCCTCAGTGTCACCTTCTCTGGTCTGGGTGGGTGGCTTCTCTGTTGGCAGAGGTGTGGTTGGGCGGAGGGAGTCTCGAGCCTGGAGCCTATATTCACACTGTCTATCCGTTGTTCCCCATTCCCTCTCCACCACCCCCAGGAGTCTCCCGGGGTCCGAGCCCTGTGGTCCTGGGCTCCCAGGATGCCCTGCCCATAGCCACAGCCTTCACAGAGTATGTCCACGCCTACTTCCGTGGCCACAGCCCCAGGTACCCAGTGATGGGCAGACAGGGCCCGTGGGAAGTCTGTGTTGGGGGAGTCCAGCAGGGACAGCTTTCAGATGTGCTTCATGGTCTGTCTTATAGTGAAAGGGCCTTGAACACTGAGCCAAGTGACCAGGCCCCTGTCCTGAGGGCAGTGGAGCCATAGGAGGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGTGCAGTGGTGCAATCTCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGAACTACAGATGCGTGCCACTGCACCCGACTAAATTATTGTGCTTTTTGTTTGTTTATTTGTTTGTTTGTTTGTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGCGTGATCTCAGTTCACTGCCACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAATTCTGGGATTACAGGCACATGCCACCACACCCTGCTGATTTTGTGTCTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTAATCCAGCTGCCTCAGCCTCCCAAGGTGCTGGGAGGATAGACATGAGCCACTGTGCCCAGCCATAGGAGAGCATTTAAGCAGGGCTATGCATTGCTGTAGACGCCAAGGCTGCCGTGGGCATTAAGATGAAGGGAGTAATACTAGAAGTTAGGCCCAGTAAGTGGGTAAGGGCGTGGGTTAGGGACAAGCGGAGTGCAGGGATATATATTGGGGTGGCCTTCAGCAGAAAAGATCTGAAAGTCAAACCATGAAGAAGAGGAGAGTGTCAGATCAAAAACCCAAGCAAAGGATAGCTAAAAAACTGAACATTTTAATTTGAGCTTCCTGGTGGCCTAGGAGAAAAGAGAACTAGGGATGGAGATGTTCCTGCCTCCTTCAGCCCAGGGTGGATTCTTCCTGTCCAGGCAGGAATGAAAGAGGAGGTTGGGGGAAAGGATACGGGGGATCATCAGGGCCATCCTCCTAGATCCGAGGAGTCTGGGGAGCCACAGGCACCAGTGAAACCAAGAGAAGGGGAAGGATGAGGCACCAGGCAGAGCCCTAAGCCAACACCCAGTCCCCTCATCCTCCCTAGCTGCCTGGCTCGAGTAACTGGGGAGCTGACCATGACCTTCCCTGCTGGCATCGTGCGTGTGTTCAGCGGGACCCCACCACCACCTGTCCTCAGCTTCCGGCTTGTACACACAACCGCTATTGAGCACTTCCAGCCCAACGCCGATCTGCTGTTCAGGTACTATGGAGGGGCAGTGGGAGAGGGCCTCGGAGGCTGCTGGGGATCAGGCTTCCGGACTCTGAGTTCCCTCTCTGCTTCCTGGGATTTTTTCTTTTCTTTTTTTTTTGTAGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTCATCTCGGCTCACTGCAACTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACTACACCCAGCTAATTTCTTTCGTATTTTAGTAGAGACAGGGTTTCATCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAGGCAATCCGCCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCTACCACACCCGGCTTGATTTTTTTTTTTTAATTATTATTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGATTCAAGTGATTCTCTTGCCTCAGCCACCTGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTGCACCATGTTGGTCAAGCTGGTCTTAAACTCCTGACCTCAGGTGATCCACCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACACCCAGCCACCTCCTGGGATTTGCTGTGTGGCGTGGGGCAAGTAACTTGCCCTCTCTGACCCTTGTTTTCCATCCCTCCTTTACTGCCCGCACCACAACCACCCAGGTAGGGCTTTGCTGGGCCCAGGGTGGGCCAGGAAATTGCATCTTTAGGAAGGGGTAGATTGAATGCTGGGAGCCCTGGGAGGGCATGTCCCGAGGATTGGGGTGATCAGTCCGGGTCTCTGCAGTGACCCCTCCCAGAGTGACCCTGAGACCAAAGACTTCTGGCTCAACATGGCAGCTCTGACCGAAGCCCTGCAGCGCCAGGCAGAGCAGAACCCCACTGCCTCCTACTACAACGTGGTGCTGCTGCGATACCAGGTGCGCCACCCGCATGGGGCCGGGAGGAGGTGGTGGAGTGGGGGACACGGTGAGCCGGCAGCAGACATGGAGGCGCCTGCGTGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGAGATCCAATCTGTGAGAGCCGATGAGCTGGAGGGAGTAGGCAGTGTGGGTCGGGAATGAACGGTGGAGGAGTAGGCAGTGTGGAAGAGCGTGCATCCCCTGTTGCAGATAGTATGTTTATGTGAACTAGAAGCAGCCCAGCCCCGGAACCTTACACTTGAACTTCCCTGGGAGACTTTGTTAGAATGAGGCGCTCTCCTGCCCCCTGCTGGAAACCTGGTGTAATACAGCCTCTCATCCATCAAATCTCCCTGTGACTGGACCCCCTTGGGGCGGTGCGTGCATCGCAGGGTCAAGGTGGTTGAATAGCGCATGGTGTGGCAAGACAGGATGGCCCAAGCTGTGTCCTCTCTCTCATTCTCATTCTTCCTAGTTCTCCCGCCCGGGTCCCCAGTCTGTGCCTCTGCAGCTCAGTGCCCACTGGCAGTGTGGAGCCACCCTCACCCAGGTCTCAGTGGAGTACGGCTACCGGCCCGGTGCCACGGCTGTGCCCACACCACTCACGAACGTCCAGATCCTGCTGCCTGTGGGGGAGCCTGTGACCAACGTCCGCTTGCAGCCGGCTGCCACCTGGTGAGGGCTTGCGGGAGGCCAAGGAAAACTCAGCAGTTTCCCCCATAACCCCAGACCTTCTCCCTGATGCATTGATTAAAGGGTGCACCCTCGGCCTGACCGTTAACTGTGAGCCCACCCTGCTTAGCACTAAGGGTGATGTTATGAGTGCCAGGTGCAGTGGCTCATGCCTGTAATTGCAGTGCTTTGGGAGGCTGAGGTGGGAGGATCACTTAAGGCCAGGAGTTTGAGACCAGCC
GCAGTCCTGTCTGGCACCTTTTCTGCAACACCAGGACTTCAGACCCATTGGGGGTCTCTGCAGAAAAGCCCACCTCCTAAGATTTTGGCTGAGTTTGTGCCCCTGGGGAGGCCCCAGAGGCCCCGGGCAGCATCTCAGCAGTGCCTCTTTGTACTCGCTCCTAGACCTGATGCCTGCACCTGCTGACCCCACAGCCAGGGAGGGCCTGGCAGCCCCACCCAGGAGACTTCGCTCTAGGAAGGTGTCCTGCCCTCTCACACGTAGCAATGGGGACCTGGTAGGTGAGGGGGCGTGGCAGGAGCTGGACTGGGGGTCGCGTCTGGGGTCCGCTTTTGGGCACTGGTCCTGGGGCACTCACAGCCAAGATTGTCTCTTTCCCTTCCAGTCTCGTTCCCTGAGCCCCTCCCCACTGGGCTCTTCAGCCGCCAGCACTGCCTTGGAACGGCCCAGCTTCTTATCCCAGACAGGACACGGTATGTGAGGGCGGTCCTGGGCCTGGCTTTGGGCCTCAGTGTCACCTTCTCTGGTCTGGGTGGGTGGCTTCTCTGTTGGCAGAGGTGTGGTTGGGCGGAGGGAGTCTCGAGCCTGGAGCCTATATTCACACTGTCTATCCGTTGTTCCCCATTCCCTCTCCACCACCCCCAGGAGTCTCCCGGGGTCCGAGCCCTGTGGTCCTGGGCTCCCAGGATGCCCTGCCCATAGCCACAGCCTTCACAGAGTATGTCCACGCCTACTTCCGTGGCCACAGCCCCAGGTACCCAGTGATGGGCAGACAGGGCCCGTGGGAAGTCTGTGTTGGGGGAGTCCAGCAGGGACAGCTTTCAGATGTGCTTCATGGTCTGTCTTATAGTGAAAGGGCCTTGAACACTGAGCCAAGTGACCAGGCCCCTGTCCTGAGGGCAGTGGAGCCATAGGAGGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGTGCAGTGGTGCAATCTCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGAACTACAGATGCGTGCCACTGCACCCGACTAAATTATTGTGCTTTTTGTTTGTTTATTTGTTTGTTTGTTTGTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGCGTGATCTCAGTTCACTGCCACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAATTCTGGGATTACAGGCACATGCCACCACACCCTGCTGATTTTGTGTCTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTAATCCAGCTGCCTCAGCCTCCCAAGGTGCTGGGAGGATAGACATGAGCCACTGTGCCCAGCCATAGGAGAGCATTTAAGCAGGGCTATGCATTGCTGTAGACGCCAAGGCTGCCGTGGGCATTAAGATGAAGGGAGTAATACTAGAAGTTAGGCCCAGTAAGTGGGTAAGGGCGTGGGTTAGGGACAAGCGGAGTGCAGGGATATATATTGGGGTGGCCTTCAGCAGAAAAGATCTGAAAGTCAAACCATGAAGAAGAGGAGAGTGTCAGATCAAAAACCCAAGCAAAGGATAGCTAAAAAACTGAACATTTTAATTTGAGCTTCCTGGTGGCCTAGGAGAAAAGAGAACTAGGGATGGAGATGTTCCTGCCTCCTTCAGCCCAGGGTGGATTCTTCCTGTCCAGGCAGGAATGAAAGAGGAGGTTGGGGGAAAGGATACGGGGGATCATCAGGGCCATCCTCCTAGATCCGAGGAGTCTGGGGAGCCACAGGCACCAGTGAAACCAAGAGAAGGGGAAGGATGAGGCACCAGGCAGAGCCCTAAGCCAACACCCAGTCCCCTCATCCTCCCTAGCTGCCTGGCTCGAGTAACTGGGGAGCTGACCATGACCTTCCCTGCTGGCATCGTGCGTGTGTTCAGCGGGACCCCACCACCACCTGTCCTCAGCTTCCCGCTTGTACACACAACCGCTATTGAGCACTTCCAGCCCAACGCCGATCTGCTGTTCAGGTACTATGGAGGGGCAGTGGGAGAGGGCCTCGGAGGCTGCTGGGGATCAGGCTTCCGGACTCTGAGTTCCCTCTCTGCTTCCTGGGATTTTTTCTTTTCTTTTTTTTTTGTAGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTCATCTCGGCTCACTGCAACTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACTACACCCAGCTAATTTCTTTCGTATTTTAGTAGAGACAGGGTTTCATCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAGGCAATCCGCCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCTACCACACCCGGCTTGATTTTTTTTTTTTAATTATTATTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGATTCAAGTGATTCTCTTGCCTCAGCCACCTGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTGCACCATGTTGGTCAAGCTGGTCTTAAACTCCTGACCTCAGGTGATCCACCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACACCCAGCCACCTCCTGGGATTTGCTGTGTGGCGTGGGGCAAGTAACTTGCCCTCTCTGACCCTTGTTTTCCATCCCTCCTTTACTGCCCGCACCACAACCACCCAGGTAGGGCTTTGCTGGGCCCAGGGTGGGCCAGGAAATTGCATCTTTAGGAAGGGGTAGATTGAATGCTGGGAGCCCTGGGAGGGCATGTCCCGAGGATTGGGGTGATCAGTCCGGGTCTCTGCAGTGACCCCTCCCAGAGTGACCCTGAGACCAAAGACTTCTGGCTCAACATGGCAGCTCTGACCGAAGCCCTGCAGCGCCAGGCAGAGCAGAACCCCACTGCCTCCTACTACAACGTGGTGCTGCTGCGATACCAGGTGCGCCACCCGCATGGGGCCGGGAGGAGGTGGTGGAGTGGGGGACACGGTGAGCCGGCAGCAGACATGGAGGCGCCTGCGTGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGAGATCCAATCTGTGAGAGCCGATGAGCTGGAGGGAGTAGGCAGTGTGGGTCGGGAATGAACGGTGGAGGAGTAGGCAGTGTGGAAGAGCGTGCATCCCCTGTTGCAGATAGTATGTTTATGTGAACTAGAAGCAGCCCAGCCCCGGAACCTTACACTTGAACTTCCCTGGGAGACTTTGTTAGAATGAGGCGCTCTCCTGCCCCCTGCTGGAAACCTGGTGTAATACAGCCTCTCATCCATCAAATCTCCCTGTGACTGGACCCCCTTGGGGCGGTGCGTGCATCGCAGGGTCAAGGTGGTTGAATAGCGCATGGTGTGGCAAGACAGGATGGCCCAAGCTGTGTCCTCTCTCTCATTCTCATTCTTCCTAGTTCTCCCGCCCGGGTCCCCAGTCTGTGCCTCTGCAGCTCAGTGCCCACTGGCAGTGTGGAGCCACCCTCACCCAGGTCTCAGTGGAGTACGGCTACCGGCCCGGTGCCACGGCTGTGCCCACACCACTCACGAACGTCCAGATCCTGCTGCCTGTGGGGGAGCCTGTGACCAACGTCCGCTTGCAGCCGGCTGCCACCTGGTGAGGGCTTGCGGGAGGCCAAGGAAAACTCAGCAGTTTCCCCCATAACCCCAGACCTTCTCCCTGATGCATTGATTAAAGGGTGCACCCTCGGCCTGACCGTTAACTGTGAGCCCACCCTGCTTAGCACTAAGGGTGATGTTATGAGTGCCAGGTGCAGTGGCTCATGCCTGTAATTGCAGTGCTTTGGGAGGCTGAGGTGGGAGGATCACTTAAGGCCAGGAGTTTGAGACCAGCC
Task1_train_26908
Here is a variant affecting FCHO1 (FCH and mu domain containing endocytic adaptor 1) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Severe congenital neutropenia
GCAGTCCTGTCTGGCACCTTTTCTGCAACACCAGGACTTCAGACCCATTGGGGGTCTCTGCAGAAAAGCCCACCTCCTAAGATTTTGGCTGAGTTTGTGCCCCTGGGGAGGCCCCAGAGGCCCCGGGCAGCATCTCAGCAGTGCCTCTTTGTACTCGCTCCTAGACCTGATGCCTGCACCTGCTGACCCCACAGCCAGGGAGGGCCTGGCAGCCCCACCCAGGAGACTTCGCTCTAGGAAGGTGTCCTGCCCTCTCACACGTAGCAATGGGGACCTGGTAGGTGAGGGGGCGTGGCAGGAGCTGGACTGGGGGTCGCGTCTGGGGTCCGCTTTTGGGCACTGGTCCTGGGGCACTCACAGCCAAGATTGTCTCTTTCCCTTCCAGTCTCGTTCCCTGAGCCCCTCCCCACTGGGCTCTTCAGCCGCCAGCACTGCCTTGGAACGGCCCAGCTTCTTATCCCAGACAGGACACGGTATGTGAGGGCGGTCCTGGGCCTGGCTTTGGGCCTCAGTGTCACCTTCTCTGGTCTGGGTGGGTGGCTTCTCTGTTGGCAGAGGTGTGGTTGGGCGGAGGGAGTCTCGAGCCTGGAGCCTATATTCACACTGTCTATCCGTTGTTCCCCATTCCCTCTCCACCACCCCCAGGAGTCTCCCGGGGTCCGAGCCCTGTGGTCCTGGGCTCCCAGGATGCCCTGCCCATAGCCACAGCCTTCACAGAGTATGTCCACGCCTACTTCCGTGGCCACAGCCCCAGGTACCCAGTGATGGGCAGACAGGGCCCGTGGGAAGTCTGTGTTGGGGGAGTCCAGCAGGGACAGCTTTCAGATGTGCTTCATGGTCTGTCTTATAGTGAAAGGGCCTTGAACACTGAGCCAAGTGACCAGGCCCCTGTCCTGAGGGCAGTGGAGCCATAGGAGGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGTGCAGTGGTGCAATCTCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGAACTACAGATGCGTGCCACTGCACCCGACTAAATTATTGTGCTTTTTGTTTGTTTATTTGTTTGTTTGTTTGTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGCGTGATCTCAGTTCACTGCCACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAATTCTGGGATTACAGGCACATGCCACCACACCCTGCTGATTTTGTGTCTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTAATCCAGCTGCCTCAGCCTCCCAAGGTGCTGGGAGGATAGACATGAGCCACTGTGCCCAGCCATAGGAGAGCATTTAAGCAGGGCTATGCATTGCTGTAGACGCCAAGGCTGCCGTGGGCATTAAGATGAAGGGAGTAATACTAGAAGTTAGGCCCAGTAAGTGGGTAAGGGCGTGGGTTAGGGACAAGCGGAGTGCAGGGATATATATTGGGGTGGCCTTCAGCAGAAAAGATCTGAAAGTCAAACCATGAAGAAGAGGAGAGTGTCAGATCAAAAACCCAAGCAAAGGATAGCTAAAAAACTGAACATTTTAATTTGAGCTTCCTGGTGGCCTAGGAGAAAAGAGAACTAGGGATGGAGATGTTCCTGCCTCCTTCAGCCCAGGGTGGATTCTTCCTGTCCAGGCAGGAATGAAAGAGGAGGTTGGGGGAAAGGATACGGGGGATCATCAGGGCCATCCTCCTAGATCCGAGGAGTCTGGGGAGCCACAGGCACCAGTGAAACCAAGAGAAGGGGAAGGATGAGGCACCAGGCAGAGCCCTAAGCCAACACCCAGTCCCCTCATCCTCCCTAGCTGCCTGGCTCGAGTAACTGGGGAGCTGACCATGACCTTCCCTGCTGGCATCGTGCGTGTGTTCAGCGGGACCCCACCACCACCTGTCCTCAGCTTCCGGCTTGTACACACAACCGCTATTGAGCACTTCCAGCCCAACGCCGATCTGCTGTTCAGGTACTATGGAGGGGCAGTGGGAGAGGGCCTCGGAGGCTGCTGGGGATCAGGCTTCCGGACTCTGAGTTCCCTCTCTGCTTCCTGGGATTTTTTCTTTTCTTTTTTTTTTGTAGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTCATCTCGGCTCACTGCAACTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACTACACCCAGCTAATTTCTTTCGTATTTTAGTAGAGACAGGGTTTCATCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAGGCAATCCGCCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCTACCACACCCGGCTTGATTTTTTTTTTTTAATTATTATTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGATTCAAGTGATTCTCTTGCCTCAGCCACCTGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTGCACCATGTTGGTCAAGCTGGTCTTAAACTCCTGACCTCAGGTGATCCACCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACACCCAGCCACCTCCTGGGATTTGCTGTGTGGCGTGGGGCAAGTAACTTGCCCTCTCTGACCCTTGTTTTCCATCCCTCCTTTACTGCCCGCACCACAACCACCCAGGTAGGGCTTTGCTGGGCCCAGGGTGGGCCAGGAAATTGCATCTTTAGGAAGGGGTAGATTGAATGCTGGGAGCCCTGGGAGGGCATGTCCCGAGGATTGGGGTGATCAGTCCGGGTCTCTGCAGTGACCCCTCCCAGAGTGACCCTGAGACCAAAGACTTCTGGCTCAACATGGCAGCTCTGACCGAAGCCCTGCAGCGCCAGGCAGAGCAGAACCCCACTGCCTCCTACTACAACGTGGTGCTGCTGCGATACCAGGTGCGCCACCCGCATGGGGCCGGGAGGAGGTGGTGGAGTGGGGGACACGGTGAGCCGGCAGCAGACATGGAGGCGCCTGCGTGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGAGATCCAATCTGTGAGAGCCGATGAGCTGGAGGGAGTAGGCAGTGTGGGTCGGGAATGAACGGTGGAGGAGTAGGCAGTGTGGAAGAGCGTGCATCCCCTGTTGCAGATAGTATGTTTATGTGAACTAGAAGCAGCCCAGCCCCGGAACCTTACACTTGAACTTCCCTGGGAGACTTTGTTAGAATGAGGCGCTCTCCTGCCCCCTGCTGGAAACCTGGTGTAATACAGCCTCTCATCCATCAAATCTCCCTGTGACTGGACCCCCTTGGGGCGGTGCGTGCATCGCAGGGTCAAGGTGGTTGAATAGCGCATGGTGTGGCAAGACAGGATGGCCCAAGCTGTGTCCTCTCTCTCATTCTCATTCTTCCTAGTTCTCCCGCCCGGGTCCCCAGTCTGTGCCTCTGCAGCTCAGTGCCCACTGGCAGTGTGGAGCCACCCTCACCCAGGTCTCAGTGGAGTACGGCTACCGGCCCGGTGCCACGGCTGTGCCCACACCACTCACGAACGTCCAGATCCTGCTGCCTGTGGGGGAGCCTGTGACCAACGTCCGCTTGCAGCCGGCTGCCACCTGGTGAGGGCTTGCGGGAGGCCAAGGAAAACTCAGCAGTTTCCCCCATAACCCCAGACCTTCTCCCTGATGCATTGATTAAAGGGTGCACCCTCGGCCTGACCGTTAACTGTGAGCCCACCCTGCTTAGCACTAAGGGTGATGTTATGAGTGCCAGGTGCAGTGGCTCATGCCTGTAATTGCAGTGCTTTGGGAGGCTGAGGTGGGAGGATCACTTAAGGCCAGGAGTTTGAGACCAGCC
GCAGTCCTGTCTGGCACCTTTTCTGCAACACCAGGACTTCAGACCCATTGGGGGTCTCTGCAGAAAAGCCCACCTCCTAAGATTTTGGCTGAGTTTGTGCCCCTGGGGAGGCCCCAGAGGCCCCGGGCAGCATCTCAGCAGTGCCTCTTTGTACTCGCTCCTAGACCTGATGCCTGCACCTGCTGACCCCACAGCCAGGGAGGGCCTGGCAGCCCCACCCAGGAGACTTCGCTCTAGGAAGGTGTCCTGCCCTCTCACACGTAGCAATGGGGACCTGGTAGGTGAGGGGGCGTGGCAGGAGCTGGACTGGGGGTCGCGTCTGGGGTCCGCTTTTGGGCACTGGTCCTGGGGCACTCACAGCCAAGATTGTCTCTTTCCCTTCCAGTCTCGTTCCCTGAGCCCCTCCCCACTGGGCTCTTCAGCCGCCAGCACTGCCTTGGAACGGCCCAGCTTCTTATCCCAGACAGGACACGGTATGTGAGGGCGGTCCTGGGCCTGGCTTTGGGCCTCAGTGTCACCTTCTCTGGTCTGGGTGGGTGGCTTCTCTGTTGGCAGAGGTGTGGTTGGGCGGAGGGAGTCTCGAGCCTGGAGCCTATATTCACACTGTCTATCCGTTGTTCCCCATTCCCTCTCCACCACCCCCAGGAGTCTCCCGGGGTCCGAGCCCTGTGGTCCTGGGCTCCCAGGATGCCCTGCCCATAGCCACAGCCTTCACAGAGTATGTCCACGCCTACTTCCGTGGCCACAGCCCCAGGTACCCAGTGATGGGCAGACAGGGCCCGTGGGAAGTCTGTGTTGGGGGAGTCCAGCAGGGACAGCTTTCAGATGTGCTTCATGGTCTGTCTTATAGTGAAAGGGCCTTGAACACTGAGCCAAGTGACCAGGCCCCTGTCCTGAGGGCAGTGGAGCCATAGGAGGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGTGCAGTGGTGCAATCTCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGAACTACAGATGCGTGCCACTGCACCCGACTAAATTATTGTGCTTTTTGTTTGTTTATTTGTTTGTTTGTTTGTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGCGTGATCTCAGTTCACTGCCACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAATTCTGGGATTACAGGCACATGCCACCACACCCTGCTGATTTTGTGTCTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTAATCCAGCTGCCTCAGCCTCCCAAGGTGCTGGGAGGATAGACATGAGCCACTGTGCCCAGCCATAGGAGAGCATTTAAGCAGGGCTATGCATTGCTGTAGACGCCAAGGCTGCCGTGGGCATTAAGATGAAGGGAGTAATACTAGAAGTTAGGCCCAGTAAGTGGGTAAGGGCGTGGGTTAGGGACAAGCGGAGTGCAGGGATATATATTGGGGTGGCCTTCAGCAGAAAAGATCTGAAAGTCAAACCATGAAGAAGAGGAGAGTGTCAGATCAAAAACCCAAGCAAAGGATAGCTAAAAAACTGAACATTTTAATTTGAGCTTCCTGGTGGCCTAGGAGAAAAGAGAACTAGGGATGGAGATGTTCCTGCCTCCTTCAGCCCAGGGTGGATTCTTCCTGTCCAGGCAGGAATGAAAGAGGAGGTTGGGGGAAAGGATACGGGGGATCATCAGGGCCATCCTCCTAGATCCGAGGAGTCTGGGGAGCCACAGGCACCAGTGAAACCAAGAGAAGGGGAAGGATGAGGCACCAGGCAGAGCCCTAAGCCAACACCCAGTCCCCTCATCCTCCCTAGCTGCCTGGCTCGAGTAACTGGGGAGCTGACCATGACCTTCCCTGCTGGCATCGTGCGTGTGTTCAGCGGGACCCCACCACCACCTGTCCTCAGCTTCCCGCTTGTACACACAACCGCTATTGAGCACTTCCAGCCCAACGCCGATCTGCTGTTCAGGTACTATGGAGGGGCAGTGGGAGAGGGCCTCGGAGGCTGCTGGGGATCAGGCTTCCGGACTCTGAGTTCCCTCTCTGCTTCCTGGGATTTTTTCTTTTCTTTTTTTTTTGTAGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTCATCTCGGCTCACTGCAACTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACTACACCCAGCTAATTTCTTTCGTATTTTAGTAGAGACAGGGTTTCATCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAGGCAATCCGCCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCTACCACACCCGGCTTGATTTTTTTTTTTTAATTATTATTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGATTCAAGTGATTCTCTTGCCTCAGCCACCTGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTGCACCATGTTGGTCAAGCTGGTCTTAAACTCCTGACCTCAGGTGATCCACCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACACCCAGCCACCTCCTGGGATTTGCTGTGTGGCGTGGGGCAAGTAACTTGCCCTCTCTGACCCTTGTTTTCCATCCCTCCTTTACTGCCCGCACCACAACCACCCAGGTAGGGCTTTGCTGGGCCCAGGGTGGGCCAGGAAATTGCATCTTTAGGAAGGGGTAGATTGAATGCTGGGAGCCCTGGGAGGGCATGTCCCGAGGATTGGGGTGATCAGTCCGGGTCTCTGCAGTGACCCCTCCCAGAGTGACCCTGAGACCAAAGACTTCTGGCTCAACATGGCAGCTCTGACCGAAGCCCTGCAGCGCCAGGCAGAGCAGAACCCCACTGCCTCCTACTACAACGTGGTGCTGCTGCGATACCAGGTGCGCCACCCGCATGGGGCCGGGAGGAGGTGGTGGAGTGGGGGACACGGTGAGCCGGCAGCAGACATGGAGGCGCCTGCGTGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGAGATCCAATCTGTGAGAGCCGATGAGCTGGAGGGAGTAGGCAGTGTGGGTCGGGAATGAACGGTGGAGGAGTAGGCAGTGTGGAAGAGCGTGCATCCCCTGTTGCAGATAGTATGTTTATGTGAACTAGAAGCAGCCCAGCCCCGGAACCTTACACTTGAACTTCCCTGGGAGACTTTGTTAGAATGAGGCGCTCTCCTGCCCCCTGCTGGAAACCTGGTGTAATACAGCCTCTCATCCATCAAATCTCCCTGTGACTGGACCCCCTTGGGGCGGTGCGTGCATCGCAGGGTCAAGGTGGTTGAATAGCGCATGGTGTGGCAAGACAGGATGGCCCAAGCTGTGTCCTCTCTCTCATTCTCATTCTTCCTAGTTCTCCCGCCCGGGTCCCCAGTCTGTGCCTCTGCAGCTCAGTGCCCACTGGCAGTGTGGAGCCACCCTCACCCAGGTCTCAGTGGAGTACGGCTACCGGCCCGGTGCCACGGCTGTGCCCACACCACTCACGAACGTCCAGATCCTGCTGCCTGTGGGGGAGCCTGTGACCAACGTCCGCTTGCAGCCGGCTGCCACCTGGTGAGGGCTTGCGGGAGGCCAAGGAAAACTCAGCAGTTTCCCCCATAACCCCAGACCTTCTCCCTGATGCATTGATTAAAGGGTGCACCCTCGGCCTGACCGTTAACTGTGAGCCCACCCTGCTTAGCACTAAGGGTGATGTTATGAGTGCCAGGTGCAGTGGCTCATGCCTGTAATTGCAGTGCTTTGGGAGGCTGAGGTGGGAGGATCACTTAAGGCCAGGAGTTTGAGACCAGCC
Task1_train_26909
A variant was discovered on Chromosome 19, affecting INSL3 (insulin like 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Cryptorchidism
GACCATGCCACTGCACTCCAGCCTGGGTGAGAGGGAGACCTTGTTTCAAAAATAAAATGAGGCTGGGCATGGTGGCTCACGATTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTCAGGAGACCAAGACCAGCCTAGACAAGGCGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCAGAGTGTGGTGGCATATGCCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGAATCTATCTCAAAAAAAAGAAAAAAAAAAATAGGCCAGCCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGAAGATTGAGACCATTCTGGCCAACATGGTGACACCCCGTCTCTACTAAAAATATGAAAATTAGCCAGGCGTGGTGGTGTGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGGCAAAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCAGTCTCCAAAAAAAAAAAAAAAAAAAGGTGGTTAAAAATGGCTGCTCTGGGGACTGGAGGGAGTTGGGAGGATGAGACACCATCCTGCAAATCAGGCCTGGATGAGATGGGGCTGCAGGGCTTTCTGACAGGCACATCTGACCTCATTCTGCCCCTGCTCACACAGCCTCTGTGGCTCCCTATTGCCATCAGGGGAGAGTCCCAGCTCCCCTGCTCCACTGGATTGAGTAGTGTCTGGCAAGAATTCATGTCTGAGAATTCATATTCATATTCTGAGAATTCATATTCTGAGAATTCACCTCAGAATATGGGCTTATTTGGAAATAGGGTCTTTATAGACAGACATGAGGTTATCATGGATTAGGGTGGACCCTAAATCCGATGACTGGGCCAGGCACGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGTTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTTAGGAGGCTGAAGTGGGAGGATCACTTCAGCCCAGGAGTTGGAGGCTGCAGTAAGCTATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAGACTAATGTGTTTTGTGATGATCATTTTCTGACATTTGTTTTGTGTCTAATGTCTACCATTCTAAGTCCTCAATGCTAAGGACTCCCATGGGCCTTGGTAGAGACCTCGGTTCAAGTCCTGCACTTACCCTTCCCTGTCTGACCTTGGCAAGCAGCCCTCTCCCTGGGCCTCAGTTTCCCCACTTTGCGTTGCAATGCCTCTCTAGTTATCAAGCTCCTGGAAGTGCCGGTGGGTCCATGGCTGCTGGGGGACAAGCCCACACAGGGACTGACTGAGGCTTGTCCCTTTTTCTAGAGAAAATGCAGGAAGCTGCTTTGGGTCGTTTATTTACTAAGAGACAGCAAGAAGGGGTGTTACACATGCAGGGAGCGGAGCGTCTGGGGCTCCCCTGGAGTGAGGACATTTGGCTGTCAGTGTCCAGCATCTGTGAAAGCGGGGATCCTCCAAGCCAGGGCTAGGGTGTGATTTATTCTGCAGTTGACTCCACAGGCTGCAGGTGGCATTGGTCTGGGGTAGATAGTGAGCACCCATCCCAGGAGGTAATCAAAGGCCTGTAGATGCGAGACTTTATGGTGCTGTGTGGCCTCAGGAGCTCACCAGACCAGACCCTCTGGGCCTCAGGCCACTCTGAGGCTGCACCCAAGGAGGAATCAGTAGGGACAGAGGGTCAGCAGGTCTTGTTGGGTACAGCCACTGAGGCAGCAGTAGCGTGCAGGGTTGGTGGCAGCTGCACGGTGGTGGCGGTGATGGTGAGAGGTCTGGGGCAGGGGCTGCAGGCCAGGTCCCAGCGTGAGATTACTGTCGGCCACCAGCCCATGGAGCAGATGTCGTCTCTCCAGCCACTGTAGCAACTCACCTGGGGACAGAGTGAAACTCAGCTGGAACGGAAACGACAGAGGACATGCTACCCCATGCTGCATGTGCACGAATCCACACACATCCCACTGAGTAACCCACCAAACACTCATGCATGCAGATAAAAAGTGAGCACTGGCCGGGTGCAGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGACCATCCTGGCTAACACAGTGAAACCCCTTCTCTACTAAAAAAAAAAACAACCAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGTGAGCACTGGCCCGGCTCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGTAAAAACCTGTCTCTACTAAAAAATACAAAAATTAGTCAGGCGTGGTGGTGGACGCCTGTAATCCCAGCTACTGGGGAGGCTGGGGTGGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGGGAGCTGGGATCATGCCATTGCACTCCAGCCTAGGTGACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCGAGCACTTATTAAGCACCTACTGTACGCCAGGCACCTGGTTAATCCTCTCATCCACTCAACTCATGTCCACACTCACATCCCCAGCTGCGTGGGTCCCCATATGCCACCTGAGTGCCCCATGCCCTGCCCAGGGAGTGTCGGGGGTCTTGGAGCTACAGATGGTGTCAGTTTCCCCAACAGGTCCAAGGGTCCGTGAGACACCCAGAGCAGGTCAGAGACCCACCCACAGACTCCTCGTGGTACAGAGACATGCAGGGGTGTACATGTGTCTGTGGGTCCACTTCCTGGTCACCCACGCATGTGTGGTGGACCCACAGACACACACACACCCCTACGAGGACACACCCTTGCAGACCACCTCCCCTGGATCCCTAACACCGCAAGTGGAGTGGCACACAGAGACATGTGGACACGTGTTAACACATCTGCACAAACTTGTCGTATATCCCTGCACCAGGGCCAGGACTAGGGTACAGACAGGGAGGCACGAAGCCATCAGGATATTTTTTTGAGGCCAGGCACCGTGGCTCACACCTGTCATCCCAGCATTTTGGGAAGCCTAGGTGGGTGCGTTGCTTGAGCCCAGGAGTTCATGACCAGCCTTGGCAATACAGCAAAACCTCATCTCTGCAGAAAATACAAAAATTAGCTGGGCATAATTCTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAAGGCAAGGCTGCAGTGACCCGAGATCGTGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTGTCTCAAAAGAAAAAAAAAAGGACTTATGAAAATTTAGAGGGTTGTTTACCCTCTACCCAATCTGCAGTTTACAATTGACACCAGTGGTTCTCAAACCAGGGTGATTTTGTTTCCAGGGGATACTTGTCTGGGGACAGTTTTAGATGTCACAACTTGGATGGGGTGTGAGGCTATTCATGGCATTAGGGGGCAGAAGACAGAGATGTTATCTAACACCCTACAATATACAGGACAGCCCCACTACCATATACATCCCCAAATGTCAGCATCAGCTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCAAGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCC
GACCATGCCACTGCACTCCAGCCTGGGTGAGAGGGAGACCTTGTTTCAAAAATAAAATGAGGCTGGGCATGGTGGCTCACGATTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTCAGGAGACCAAGACCAGCCTAGACAAGGCGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCAGAGTGTGGTGGCATATGCCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGAATCTATCTCAAAAAAAAGAAAAAAAAAAATAGGCCAGCCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGAAGATTGAGACCATTCTGGCCAACATGGTGACACCCCGTCTCTACTAAAAATATGAAAATTAGCCAGGCGTGGTGGTGTGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGGCAAAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCAGTCTCCAAAAAAAAAAAAAAAAAAAGGTGGTTAAAAATGGCTGCTCTGGGGACTGGAGGGAGTTGGGAGGATGAGACACCATCCTGCAAATCAGGCCTGGATGAGATGGGGCTGCAGGGCTTTCTGACAGGCACATCTGACCTCATTCTGCCCCTGCTCACACAGCCTCTGTGGCTCCCTATTGCCATCAGGGGAGAGTCCCAGCTCCCCTGCTCCACTGGATTGAGTAGTGTCTGGCAAGAATTCATGTCTGAGAATTCATATTCATATTCTGAGAATTCATATTCTGAGAATTCACCTCAGAATATGGGCTTATTTGGAAATAGGGTCTTTATAGACAGACATGAGGTTATCATGGATTAGGGTGGACCCTAAATCCGATGACTGGGCCAGGCACGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGTTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTTAGGAGGCTGAAGTGGGAGGATCACTTCAGCCCAGGAGTTGGAGGCTGCAGTAAGCTATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAGACTAATGTGTTTTGTGATGATCATTTTCTGACATTTGTTTTGTGTCTAATGTCTACCATTCTAAGTCCTCAATGCTAAGGACTCCCATGGGCCTTGGTAGAGACCTCGGTTCAAGTCCTGCACTTACCCTTCCCTGTCTGACCTTGGCAAGCAGCCCTCTCCCTGGGCCTCAGTTTCCCCACTTTGCGTTGCAATGCCTCTCTAGTTATCAAGCTCCTGGAAGTGCCGGTGGGTCCATGGCTGCTGGGGGACAAGCCCACACAGGGACTGACTGAGGCTTGTCCCTTTTTCTAGAGAAAATGCAGGAAGCTGCTTTGGGTCGTTTATTTACTAAGAGACAGCAAGAAGGGGTGTTACACATGCAGGGAGCGGAGCGTCTGGGGCTCCCCTGGAGTGAGGACATTTGGCTGTCAGTGTCCAGCATCTGTGAAAGCGGGGATCCTCCAAGCCAGGGCTAGGGTGTGATTTATTCTGCAGTTGACTCCACAGGCTGCAGGTGGCATTGGTCTGGGGTAGATAGTGAGCACCCATCCCAGGAGGTAATCAAAGGCCTGTAGATGCGAGACTTTATGGTGCTGTGTGGCCTCAGGAGCTCACCAGACCAGACCCTCTGGGCCTCAGGCCACTCTGAGGCTGCACCCAAGGAGGAATCAGTAGGGACAGAGGGTCAGCAGGTCTTGTTGGGTACAGCCACTGAGGCAGCAGTAGCGTGCAGGCTTGGTGGCAGCTGCACGGTGGTGGCGGTGATGGTGAGAGGTCTGGGGCAGGGGCTGCAGGCCAGGTCCCAGCGTGAGATTACTGTCGGCCACCAGCCCATGGAGCAGATGTCGTCTCTCCAGCCACTGTAGCAACTCACCTGGGGACAGAGTGAAACTCAGCTGGAACGGAAACGACAGAGGACATGCTACCCCATGCTGCATGTGCACGAATCCACACACATCCCACTGAGTAACCCACCAAACACTCATGCATGCAGATAAAAAGTGAGCACTGGCCGGGTGCAGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGACCATCCTGGCTAACACAGTGAAACCCCTTCTCTACTAAAAAAAAAAACAACCAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGTGAGCACTGGCCCGGCTCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGTAAAAACCTGTCTCTACTAAAAAATACAAAAATTAGTCAGGCGTGGTGGTGGACGCCTGTAATCCCAGCTACTGGGGAGGCTGGGGTGGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGGGAGCTGGGATCATGCCATTGCACTCCAGCCTAGGTGACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCGAGCACTTATTAAGCACCTACTGTACGCCAGGCACCTGGTTAATCCTCTCATCCACTCAACTCATGTCCACACTCACATCCCCAGCTGCGTGGGTCCCCATATGCCACCTGAGTGCCCCATGCCCTGCCCAGGGAGTGTCGGGGGTCTTGGAGCTACAGATGGTGTCAGTTTCCCCAACAGGTCCAAGGGTCCGTGAGACACCCAGAGCAGGTCAGAGACCCACCCACAGACTCCTCGTGGTACAGAGACATGCAGGGGTGTACATGTGTCTGTGGGTCCACTTCCTGGTCACCCACGCATGTGTGGTGGACCCACAGACACACACACACCCCTACGAGGACACACCCTTGCAGACCACCTCCCCTGGATCCCTAACACCGCAAGTGGAGTGGCACACAGAGACATGTGGACACGTGTTAACACATCTGCACAAACTTGTCGTATATCCCTGCACCAGGGCCAGGACTAGGGTACAGACAGGGAGGCACGAAGCCATCAGGATATTTTTTTGAGGCCAGGCACCGTGGCTCACACCTGTCATCCCAGCATTTTGGGAAGCCTAGGTGGGTGCGTTGCTTGAGCCCAGGAGTTCATGACCAGCCTTGGCAATACAGCAAAACCTCATCTCTGCAGAAAATACAAAAATTAGCTGGGCATAATTCTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAAGGCAAGGCTGCAGTGACCCGAGATCGTGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTGTCTCAAAAGAAAAAAAAAAGGACTTATGAAAATTTAGAGGGTTGTTTACCCTCTACCCAATCTGCAGTTTACAATTGACACCAGTGGTTCTCAAACCAGGGTGATTTTGTTTCCAGGGGATACTTGTCTGGGGACAGTTTTAGATGTCACAACTTGGATGGGGTGTGAGGCTATTCATGGCATTAGGGGGCAGAAGACAGAGATGTTATCTAACACCCTACAATATACAGGACAGCCCCACTACCATATACATCCCCAAATGTCAGCATCAGCTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCAAGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCC
Task1_train_26910
This sequence change occurs on Chromosome 19, altering INSL3 (insulin like 3). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Cryptorchidism
GTGAGAGGGAGACCTTGTTTCAAAAATAAAATGAGGCTGGGCATGGTGGCTCACGATTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTCAGGAGACCAAGACCAGCCTAGACAAGGCGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCAGAGTGTGGTGGCATATGCCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGAATCTATCTCAAAAAAAAGAAAAAAAAAAATAGGCCAGCCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGAAGATTGAGACCATTCTGGCCAACATGGTGACACCCCGTCTCTACTAAAAATATGAAAATTAGCCAGGCGTGGTGGTGTGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGGCAAAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCAGTCTCCAAAAAAAAAAAAAAAAAAAGGTGGTTAAAAATGGCTGCTCTGGGGACTGGAGGGAGTTGGGAGGATGAGACACCATCCTGCAAATCAGGCCTGGATGAGATGGGGCTGCAGGGCTTTCTGACAGGCACATCTGACCTCATTCTGCCCCTGCTCACACAGCCTCTGTGGCTCCCTATTGCCATCAGGGGAGAGTCCCAGCTCCCCTGCTCCACTGGATTGAGTAGTGTCTGGCAAGAATTCATGTCTGAGAATTCATATTCATATTCTGAGAATTCATATTCTGAGAATTCACCTCAGAATATGGGCTTATTTGGAAATAGGGTCTTTATAGACAGACATGAGGTTATCATGGATTAGGGTGGACCCTAAATCCGATGACTGGGCCAGGCACGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGTTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTTAGGAGGCTGAAGTGGGAGGATCACTTCAGCCCAGGAGTTGGAGGCTGCAGTAAGCTATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAGACTAATGTGTTTTGTGATGATCATTTTCTGACATTTGTTTTGTGTCTAATGTCTACCATTCTAAGTCCTCAATGCTAAGGACTCCCATGGGCCTTGGTAGAGACCTCGGTTCAAGTCCTGCACTTACCCTTCCCTGTCTGACCTTGGCAAGCAGCCCTCTCCCTGGGCCTCAGTTTCCCCACTTTGCGTTGCAATGCCTCTCTAGTTATCAAGCTCCTGGAAGTGCCGGTGGGTCCATGGCTGCTGGGGGACAAGCCCACACAGGGACTGACTGAGGCTTGTCCCTTTTTCTAGAGAAAATGCAGGAAGCTGCTTTGGGTCGTTTATTTACTAAGAGACAGCAAGAAGGGGTGTTACACATGCAGGGAGCGGAGCGTCTGGGGCTCCCCTGGAGTGAGGACATTTGGCTGTCAGTGTCCAGCATCTGTGAAAGCGGGGATCCTCCAAGCCAGGGCTAGGGTGTGATTTATTCTGCAGTTGACTCCACAGGCTGCAGGTGGCATTGGTCTGGGGTAGATAGTGAGCACCCATCCCAGGAGGTAATCAAAGGCCTGTAGATGCGAGACTTTATGGTGCTGTGTGGCCTCAGGAGCTCACCAGACCAGACCCTCTGGGCCTCAGGCCACTCTGAGGCTGCACCCAAGGAGGAATCAGTAGGGACAGAGGGTCAGCAGGTCTTGTTGGGTACAGCCACTGAGGCAGCAGTAGCGTGCAGGGTTGGTGGCAGCTGCACGGTGGTGGCGGTGATGGTGAGAGGTCTGGGGCAGGGGCTGCAGGCCAGGTCCCAGCGTGAGATTACTGTCGGCCACCAGCCCATGGAGCAGATGTCGTCTCTCCAGCCACTGTAGCAACTCACCTGGGGACAGAGTGAAACTCAGCTGGAACGGAAACGACAGAGGACATGCTACCCCATGCTGCATGTGCACGAATCCACACACATCCCACTGAGTAACCCACCAAACACTCATGCATGCAGATAAAAAGTGAGCACTGGCCGGGTGCAGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGACCATCCTGGCTAACACAGTGAAACCCCTTCTCTACTAAAAAAAAAAACAACCAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGTGAGCACTGGCCCGGCTCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGTAAAAACCTGTCTCTACTAAAAAATACAAAAATTAGTCAGGCGTGGTGGTGGACGCCTGTAATCCCAGCTACTGGGGAGGCTGGGGTGGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGGGAGCTGGGATCATGCCATTGCACTCCAGCCTAGGTGACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCGAGCACTTATTAAGCACCTACTGTACGCCAGGCACCTGGTTAATCCTCTCATCCACTCAACTCATGTCCACACTCACATCCCCAGCTGCGTGGGTCCCCATATGCCACCTGAGTGCCCCATGCCCTGCCCAGGGAGTGTCGGGGGTCTTGGAGCTACAGATGGTGTCAGTTTCCCCAACAGGTCCAAGGGTCCGTGAGACACCCAGAGCAGGTCAGAGACCCACCCACAGACTCCTCGTGGTACAGAGACATGCAGGGGTGTACATGTGTCTGTGGGTCCACTTCCTGGTCACCCACGCATGTGTGGTGGACCCACAGACACACACACACCCCTACGAGGACACACCCTTGCAGACCACCTCCCCTGGATCCCTAACACCGCAAGTGGAGTGGCACACAGAGACATGTGGACACGTGTTAACACATCTGCACAAACTTGTCGTATATCCCTGCACCAGGGCCAGGACTAGGGTACAGACAGGGAGGCACGAAGCCATCAGGATATTTTTTTGAGGCCAGGCACCGTGGCTCACACCTGTCATCCCAGCATTTTGGGAAGCCTAGGTGGGTGCGTTGCTTGAGCCCAGGAGTTCATGACCAGCCTTGGCAATACAGCAAAACCTCATCTCTGCAGAAAATACAAAAATTAGCTGGGCATAATTCTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAAGGCAAGGCTGCAGTGACCCGAGATCGTGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTGTCTCAAAAGAAAAAAAAAAGGACTTATGAAAATTTAGAGGGTTGTTTACCCTCTACCCAATCTGCAGTTTACAATTGACACCAGTGGTTCTCAAACCAGGGTGATTTTGTTTCCAGGGGATACTTGTCTGGGGACAGTTTTAGATGTCACAACTTGGATGGGGTGTGAGGCTATTCATGGCATTAGGGGGCAGAAGACAGAGATGTTATCTAACACCCTACAATATACAGGACAGCCCCACTACCATATACATCCCCAAATGTCAGCATCAGCTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCAAGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAG
GTGAGAGGGAGACCTTGTTTCAAAAATAAAATGAGGCTGGGCATGGTGGCTCACGATTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTCAGGAGACCAAGACCAGCCTAGACAAGGCGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCAGAGTGTGGTGGCATATGCCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGAATCTATCTCAAAAAAAAGAAAAAAAAAAATAGGCCAGCCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGAAGATTGAGACCATTCTGGCCAACATGGTGACACCCCGTCTCTACTAAAAATATGAAAATTAGCCAGGCGTGGTGGTGTGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGGCAAAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCAGTCTCCAAAAAAAAAAAAAAAAAAAGGTGGTTAAAAATGGCTGCTCTGGGGACTGGAGGGAGTTGGGAGGATGAGACACCATCCTGCAAATCAGGCCTGGATGAGATGGGGCTGCAGGGCTTTCTGACAGGCACATCTGACCTCATTCTGCCCCTGCTCACACAGCCTCTGTGGCTCCCTATTGCCATCAGGGGAGAGTCCCAGCTCCCCTGCTCCACTGGATTGAGTAGTGTCTGGCAAGAATTCATGTCTGAGAATTCATATTCATATTCTGAGAATTCATATTCTGAGAATTCACCTCAGAATATGGGCTTATTTGGAAATAGGGTCTTTATAGACAGACATGAGGTTATCATGGATTAGGGTGGACCCTAAATCCGATGACTGGGCCAGGCACGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGTTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTTAGGAGGCTGAAGTGGGAGGATCACTTCAGCCCAGGAGTTGGAGGCTGCAGTAAGCTATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAGACTAATGTGTTTTGTGATGATCATTTTCTGACATTTGTTTTGTGTCTAATGTCTACCATTCTAAGTCCTCAATGCTAAGGACTCCCATGGGCCTTGGTAGAGACCTCGGTTCAAGTCCTGCACTTACCCTTCCCTGTCTGACCTTGGCAAGCAGCCCTCTCCCTGGGCCTCAGTTTCCCCACTTTGCGTTGCAATGCCTCTCTAGTTATCAAGCTCCTGGAAGTGCCGGTGGGTCCATGGCTGCTGGGGGACAAGCCCACACAGGGACTGACTGAGGCTTGTCCCTTTTTCTAGAGAAAATGCAGGAAGCTGCTTTGGGTCGTTTATTTACTAAGAGACAGCAAGAAGGGGTGTTACACATGCAGGGAGCGGAGCGTCTGGGGCTCCCCTGGAGTGAGGACATTTGGCTGTCAGTGTCCAGCATCTGTGAAAGCGGGGATCCTCCAAGCCAGGGCTAGGGTGTGATTTATTCTGCAGTTGACTCCACAGGCTGCAGGTGGCATTGGTCTGGGGTAGATAGTGAGCACCCATCCCAGGAGGTAATCAAAGGCCTGTAGATGCGAGACTTTATGGTGCTGTGTGGCCTCAGGAGCTCACCAGACCAGACCCTCTGGGCCTCAGGCCACTCTGAGGCTGCACCCAAGGAGGAATCAGTAGGGACAGAGGGTCAGCAGGTCTTGTTGGGTACAGCCACTGAGGCAGCAGTAGCGTGCAGGGTTGGTGGCAGCTGCACGGTGGTGGCAGTGATGGTGAGAGGTCTGGGGCAGGGGCTGCAGGCCAGGTCCCAGCGTGAGATTACTGTCGGCCACCAGCCCATGGAGCAGATGTCGTCTCTCCAGCCACTGTAGCAACTCACCTGGGGACAGAGTGAAACTCAGCTGGAACGGAAACGACAGAGGACATGCTACCCCATGCTGCATGTGCACGAATCCACACACATCCCACTGAGTAACCCACCAAACACTCATGCATGCAGATAAAAAGTGAGCACTGGCCGGGTGCAGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGACCATCCTGGCTAACACAGTGAAACCCCTTCTCTACTAAAAAAAAAAACAACCAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGTGAGCACTGGCCCGGCTCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGTAAAAACCTGTCTCTACTAAAAAATACAAAAATTAGTCAGGCGTGGTGGTGGACGCCTGTAATCCCAGCTACTGGGGAGGCTGGGGTGGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGGGAGCTGGGATCATGCCATTGCACTCCAGCCTAGGTGACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCGAGCACTTATTAAGCACCTACTGTACGCCAGGCACCTGGTTAATCCTCTCATCCACTCAACTCATGTCCACACTCACATCCCCAGCTGCGTGGGTCCCCATATGCCACCTGAGTGCCCCATGCCCTGCCCAGGGAGTGTCGGGGGTCTTGGAGCTACAGATGGTGTCAGTTTCCCCAACAGGTCCAAGGGTCCGTGAGACACCCAGAGCAGGTCAGAGACCCACCCACAGACTCCTCGTGGTACAGAGACATGCAGGGGTGTACATGTGTCTGTGGGTCCACTTCCTGGTCACCCACGCATGTGTGGTGGACCCACAGACACACACACACCCCTACGAGGACACACCCTTGCAGACCACCTCCCCTGGATCCCTAACACCGCAAGTGGAGTGGCACACAGAGACATGTGGACACGTGTTAACACATCTGCACAAACTTGTCGTATATCCCTGCACCAGGGCCAGGACTAGGGTACAGACAGGGAGGCACGAAGCCATCAGGATATTTTTTTGAGGCCAGGCACCGTGGCTCACACCTGTCATCCCAGCATTTTGGGAAGCCTAGGTGGGTGCGTTGCTTGAGCCCAGGAGTTCATGACCAGCCTTGGCAATACAGCAAAACCTCATCTCTGCAGAAAATACAAAAATTAGCTGGGCATAATTCTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAAGGCAAGGCTGCAGTGACCCGAGATCGTGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTGTCTCAAAAGAAAAAAAAAAGGACTTATGAAAATTTAGAGGGTTGTTTACCCTCTACCCAATCTGCAGTTTACAATTGACACCAGTGGTTCTCAAACCAGGGTGATTTTGTTTCCAGGGGATACTTGTCTGGGGACAGTTTTAGATGTCACAACTTGGATGGGGTGTGAGGCTATTCATGGCATTAGGGGGCAGAAGACAGAGATGTTATCTAACACCCTACAATATACAGGACAGCCCCACTACCATATACATCCCCAAATGTCAGCATCAGCTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCAAGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAG
Task1_train_26911
The variant affects gene INSL3 (insulin like 3), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Cryptorchidism
TAAAATGAGGCTGGGCATGGTGGCTCACGATTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTCAGGAGACCAAGACCAGCCTAGACAAGGCGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCAGAGTGTGGTGGCATATGCCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGAATCTATCTCAAAAAAAAGAAAAAAAAAAATAGGCCAGCCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGAAGATTGAGACCATTCTGGCCAACATGGTGACACCCCGTCTCTACTAAAAATATGAAAATTAGCCAGGCGTGGTGGTGTGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGGCAAAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCAGTCTCCAAAAAAAAAAAAAAAAAAAGGTGGTTAAAAATGGCTGCTCTGGGGACTGGAGGGAGTTGGGAGGATGAGACACCATCCTGCAAATCAGGCCTGGATGAGATGGGGCTGCAGGGCTTTCTGACAGGCACATCTGACCTCATTCTGCCCCTGCTCACACAGCCTCTGTGGCTCCCTATTGCCATCAGGGGAGAGTCCCAGCTCCCCTGCTCCACTGGATTGAGTAGTGTCTGGCAAGAATTCATGTCTGAGAATTCATATTCATATTCTGAGAATTCATATTCTGAGAATTCACCTCAGAATATGGGCTTATTTGGAAATAGGGTCTTTATAGACAGACATGAGGTTATCATGGATTAGGGTGGACCCTAAATCCGATGACTGGGCCAGGCACGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGTTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTTAGGAGGCTGAAGTGGGAGGATCACTTCAGCCCAGGAGTTGGAGGCTGCAGTAAGCTATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAGACTAATGTGTTTTGTGATGATCATTTTCTGACATTTGTTTTGTGTCTAATGTCTACCATTCTAAGTCCTCAATGCTAAGGACTCCCATGGGCCTTGGTAGAGACCTCGGTTCAAGTCCTGCACTTACCCTTCCCTGTCTGACCTTGGCAAGCAGCCCTCTCCCTGGGCCTCAGTTTCCCCACTTTGCGTTGCAATGCCTCTCTAGTTATCAAGCTCCTGGAAGTGCCGGTGGGTCCATGGCTGCTGGGGGACAAGCCCACACAGGGACTGACTGAGGCTTGTCCCTTTTTCTAGAGAAAATGCAGGAAGCTGCTTTGGGTCGTTTATTTACTAAGAGACAGCAAGAAGGGGTGTTACACATGCAGGGAGCGGAGCGTCTGGGGCTCCCCTGGAGTGAGGACATTTGGCTGTCAGTGTCCAGCATCTGTGAAAGCGGGGATCCTCCAAGCCAGGGCTAGGGTGTGATTTATTCTGCAGTTGACTCCACAGGCTGCAGGTGGCATTGGTCTGGGGTAGATAGTGAGCACCCATCCCAGGAGGTAATCAAAGGCCTGTAGATGCGAGACTTTATGGTGCTGTGTGGCCTCAGGAGCTCACCAGACCAGACCCTCTGGGCCTCAGGCCACTCTGAGGCTGCACCCAAGGAGGAATCAGTAGGGACAGAGGGTCAGCAGGTCTTGTTGGGTACAGCCACTGAGGCAGCAGTAGCGTGCAGGGTTGGTGGCAGCTGCACGGTGGTGGCGGTGATGGTGAGAGGTCTGGGGCAGGGGCTGCAGGCCAGGTCCCAGCGTGAGATTACTGTCGGCCACCAGCCCATGGAGCAGATGTCGTCTCTCCAGCCACTGTAGCAACTCACCTGGGGACAGAGTGAAACTCAGCTGGAACGGAAACGACAGAGGACATGCTACCCCATGCTGCATGTGCACGAATCCACACACATCCCACTGAGTAACCCACCAAACACTCATGCATGCAGATAAAAAGTGAGCACTGGCCGGGTGCAGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGACCATCCTGGCTAACACAGTGAAACCCCTTCTCTACTAAAAAAAAAAACAACCAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGTGAGCACTGGCCCGGCTCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGTAAAAACCTGTCTCTACTAAAAAATACAAAAATTAGTCAGGCGTGGTGGTGGACGCCTGTAATCCCAGCTACTGGGGAGGCTGGGGTGGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGGGAGCTGGGATCATGCCATTGCACTCCAGCCTAGGTGACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCGAGCACTTATTAAGCACCTACTGTACGCCAGGCACCTGGTTAATCCTCTCATCCACTCAACTCATGTCCACACTCACATCCCCAGCTGCGTGGGTCCCCATATGCCACCTGAGTGCCCCATGCCCTGCCCAGGGAGTGTCGGGGGTCTTGGAGCTACAGATGGTGTCAGTTTCCCCAACAGGTCCAAGGGTCCGTGAGACACCCAGAGCAGGTCAGAGACCCACCCACAGACTCCTCGTGGTACAGAGACATGCAGGGGTGTACATGTGTCTGTGGGTCCACTTCCTGGTCACCCACGCATGTGTGGTGGACCCACAGACACACACACACCCCTACGAGGACACACCCTTGCAGACCACCTCCCCTGGATCCCTAACACCGCAAGTGGAGTGGCACACAGAGACATGTGGACACGTGTTAACACATCTGCACAAACTTGTCGTATATCCCTGCACCAGGGCCAGGACTAGGGTACAGACAGGGAGGCACGAAGCCATCAGGATATTTTTTTGAGGCCAGGCACCGTGGCTCACACCTGTCATCCCAGCATTTTGGGAAGCCTAGGTGGGTGCGTTGCTTGAGCCCAGGAGTTCATGACCAGCCTTGGCAATACAGCAAAACCTCATCTCTGCAGAAAATACAAAAATTAGCTGGGCATAATTCTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAAGGCAAGGCTGCAGTGACCCGAGATCGTGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTGTCTCAAAAGAAAAAAAAAAGGACTTATGAAAATTTAGAGGGTTGTTTACCCTCTACCCAATCTGCAGTTTACAATTGACACCAGTGGTTCTCAAACCAGGGTGATTTTGTTTCCAGGGGATACTTGTCTGGGGACAGTTTTAGATGTCACAACTTGGATGGGGTGTGAGGCTATTCATGGCATTAGGGGGCAGAAGACAGAGATGTTATCTAACACCCTACAATATACAGGACAGCCCCACTACCATATACATCCCCAAATGTCAGCATCAGCTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCAAGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGT
TAAAATGAGGCTGGGCATGGTGGCTCACGATTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTCAGGAGACCAAGACCAGCCTAGACAAGGCGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCAGAGTGTGGTGGCATATGCCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGAATCTATCTCAAAAAAAAGAAAAAAAAAAATAGGCCAGCCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGAAGATTGAGACCATTCTGGCCAACATGGTGACACCCCGTCTCTACTAAAAATATGAAAATTAGCCAGGCGTGGTGGTGTGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGGCAAAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCAGTCTCCAAAAAAAAAAAAAAAAAAAGGTGGTTAAAAATGGCTGCTCTGGGGACTGGAGGGAGTTGGGAGGATGAGACACCATCCTGCAAATCAGGCCTGGATGAGATGGGGCTGCAGGGCTTTCTGACAGGCACATCTGACCTCATTCTGCCCCTGCTCACACAGCCTCTGTGGCTCCCTATTGCCATCAGGGGAGAGTCCCAGCTCCCCTGCTCCACTGGATTGAGTAGTGTCTGGCAAGAATTCATGTCTGAGAATTCATATTCATATTCTGAGAATTCATATTCTGAGAATTCACCTCAGAATATGGGCTTATTTGGAAATAGGGTCTTTATAGACAGACATGAGGTTATCATGGATTAGGGTGGACCCTAAATCCGATGACTGGGCCAGGCACGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGTTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCTGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTTAGGAGGCTGAAGTGGGAGGATCACTTCAGCCCAGGAGTTGGAGGCTGCAGTAAGCTATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAGACTAATGTGTTTTGTGATGATCATTTTCTGACATTTGTTTTGTGTCTAATGTCTACCATTCTAAGTCCTCAATGCTAAGGACTCCCATGGGCCTTGGTAGAGACCTCGGTTCAAGTCCTGCACTTACCCTTCCCTGTCTGACCTTGGCAAGCAGCCCTCTCCCTGGGCCTCAGTTTCCCCACTTTGCGTTGCAATGCCTCTCTAGTTATCAAGCTCCTGGAAGTGCCGGTGGGTCCATGGCTGCTGGGGGACAAGCCCACACAGGGACTGACTGAGGCTTGTCCCTTTTTCTAGAGAAAATGCAGGAAGCTGCTTTGGGTCGTTTATTTACTAAGAGACAGCAAGAAGGGGTGTTACACATGCAGGGAGCGGAGCGTCTGGGGCTCCCCTGGAGTGAGGACATTTGGCTGTCAGTGTCCAGCATCTGTGAAAGCGGGGATCCTCCAAGCCAGGGCTAGGGTGTGATTTATTCTGCAGTTGACTCCACAGGCTGCAGGTGGCATTGGTCTGGGGTAGATAGTGAGCACCCATCCCAGGAGGTAATCAAAGGCCTGTAGATGCGAGACTTTATGGTGCTGTGTGGCCTCAGGAGCTCACCAGACCAGACCCTCTGGGCCTCAGGCCACTCTGAGGCTGCACCCAAGGAGGAATCAGTAGGGACAGAGGGTCAGCAGGTCTTGTTGGGTACAGCCACTGAGGCAGCAGTAGCGTGCAGGGTTGGTGGCAGCTGCACGGTGGTGGCGGTGATGGTGAGAGGTCTGGGGCAGGAGCTGCAGGCCAGGTCCCAGCGTGAGATTACTGTCGGCCACCAGCCCATGGAGCAGATGTCGTCTCTCCAGCCACTGTAGCAACTCACCTGGGGACAGAGTGAAACTCAGCTGGAACGGAAACGACAGAGGACATGCTACCCCATGCTGCATGTGCACGAATCCACACACATCCCACTGAGTAACCCACCAAACACTCATGCATGCAGATAAAAAGTGAGCACTGGCCGGGTGCAGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGACCATCCTGGCTAACACAGTGAAACCCCTTCTCTACTAAAAAAAAAAACAACCAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGTGAGCACTGGCCCGGCTCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGTAAAAACCTGTCTCTACTAAAAAATACAAAAATTAGTCAGGCGTGGTGGTGGACGCCTGTAATCCCAGCTACTGGGGAGGCTGGGGTGGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGGGAGCTGGGATCATGCCATTGCACTCCAGCCTAGGTGACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCGAGCACTTATTAAGCACCTACTGTACGCCAGGCACCTGGTTAATCCTCTCATCCACTCAACTCATGTCCACACTCACATCCCCAGCTGCGTGGGTCCCCATATGCCACCTGAGTGCCCCATGCCCTGCCCAGGGAGTGTCGGGGGTCTTGGAGCTACAGATGGTGTCAGTTTCCCCAACAGGTCCAAGGGTCCGTGAGACACCCAGAGCAGGTCAGAGACCCACCCACAGACTCCTCGTGGTACAGAGACATGCAGGGGTGTACATGTGTCTGTGGGTCCACTTCCTGGTCACCCACGCATGTGTGGTGGACCCACAGACACACACACACCCCTACGAGGACACACCCTTGCAGACCACCTCCCCTGGATCCCTAACACCGCAAGTGGAGTGGCACACAGAGACATGTGGACACGTGTTAACACATCTGCACAAACTTGTCGTATATCCCTGCACCAGGGCCAGGACTAGGGTACAGACAGGGAGGCACGAAGCCATCAGGATATTTTTTTGAGGCCAGGCACCGTGGCTCACACCTGTCATCCCAGCATTTTGGGAAGCCTAGGTGGGTGCGTTGCTTGAGCCCAGGAGTTCATGACCAGCCTTGGCAATACAGCAAAACCTCATCTCTGCAGAAAATACAAAAATTAGCTGGGCATAATTCTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAAGGCAAGGCTGCAGTGACCCGAGATCGTGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTGTCTCAAAAGAAAAAAAAAAGGACTTATGAAAATTTAGAGGGTTGTTTACCCTCTACCCAATCTGCAGTTTACAATTGACACCAGTGGTTCTCAAACCAGGGTGATTTTGTTTCCAGGGGATACTTGTCTGGGGACAGTTTTAGATGTCACAACTTGGATGGGGTGTGAGGCTATTCATGGCATTAGGGGGCAGAAGACAGAGATGTTATCTAACACCCTACAATATACAGGACAGCCCCACTACCATATACATCCCCAAATGTCAGCATCAGCTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCAAGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGT
Task1_train_26912
Here is a variant affecting JAK3 (Janus kinase 3) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; T-B+ severe combined immunodeficiency due to JAK3 deficiency
GCCATAGCTGACACCACGATACTTGACAATGAAATCACTGTGCAGTGCTTTGAGGATCTGAATCTCCCGCTGAAAGTCCCTCTGCTGGTCTGGCCCGCTGTGCTGCAGCTGTTTCACGGCCACCAGGGCACCTGTATTGTCGCCTAGCGGGTCATAGCGGCACAGCTCCACGCTGCCAAAGTTGCCCTGGGGGATAGCGGGACTGATGTCCAGGCACCTGGATGCTGCCCTGCCCTCTCCAACCCACCCTGGCCCTGCCCACCTTACCTTGCCCAGCTGTGAGATGTACTTGAGGTGTCTCTCCTCGAAGATCGTGGGGTCTTGGCAGGCATAGAGCTGGGCACCATTCCACAGCCCATCACGAGGTGCCAGGGCACCAGGTGTGGGGTCTGAGAGGAGCTCATAGTCTGGGGTGGGGGCATGGGCAGTGGTAAGCAGCGCCTCTCATCCTGGGCCCCACTCCTGAGTTGACTTGCTGTGCAACCTCCATCTGCATATTGACCCTCTCTGTGCATTATGGCAGGGCCATTGCAAGCCAAAGGGTACCTTGTGGAGACTGGAAAAAGGTGTCTCCCACTCTGTCCCAGGCAAAGGAAGCCTCCTCGTGCAGTGCACACCCTGTGCAACTCCACATGGCTACAAAGATGGAGGACATAATGAGAACTCATTTCCCCAGTTCCACTGCTATGAAATGTGGCCACATGACTGAGCTCAGGCTGATGGACAAGATATGCTGGGTGCCCCTCCAGTCCTGACCCATGGAAACCTAATACGGGGCCCTCCACACTCTCTCTTTTATCTGCAGAGGATCCAACGGGGACCCAACGCCTGAGGTGAGTGCAGCCACTAAGTGAGAGGTTCCTGTGGGCCTGGACACCCTCATTGAATGAAGACTAAATATCACACTGGGCATGGTTGTGTGTGCCTGTAATCCCAGCTATTTGGGAGACTAAGGCAGGAGGATTGCTTGAGCCAGTAATTCAAGACCAGCCTGGGGAACATAGCAAAACCCCATCACAGAAAAAAAAAAAAAAAAAAAAAAAATCCAGCCTGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTGGGTGGCTGAGGTGGACGGATCTCTTTGAGACCAGGAGTTCAAGACTAGCCCGGCCAACATGGCAAAACCCTGTCTTTACTAAAAAATACAAAAATTTAGCCGTGTTTGGTGGCACGCCCTTGTAATCCTAGCTACTTGGGAGTCTGAGGCGGGAGAATTGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCCAGGATCACGCCACTGCACTCCAGCCTAGGTGACAGAGGGAGATAGTGTCTCAAAAATATAAAATAAAATAAAATAAAAATGCATACAGGCATGCATCACCATGCCTGGCTAATTTTCTGTTTGTTTGTTTGTAGAGATGGAGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATCCACCTACCTATAGCTGGAACTATAGGCATGAGCCACTGCGCCCAGCCAAACATTTTTTTAAAAGAATGAAATAGACCAGACATGGTGGCTCACACCTGAAATCCCAGCACTTTAGGAGGTAGAGGTGGGCGGATCACCTGAGGTCAAGAGTTCGAGACCAGCCTAGCCAATATGGTGAAACCCCATATCTGCCAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTAGAGGTTCAAGGAGGTAGAGGTTGCAGTGAGCCGAAATTGTGCCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAATAAATAAATAAATAAAATATCATCATGTTGAACCTTGAACTGAGGGGACTGTTCGTTACAGTAGCTGTTGAAGCTCACACTGACTGTCACAGTCACCAACCCCTCCAACCTCACCAGACACACAGGGCGTGGCCTGCTGCAAACCACGCTCCTTCCACTGGGCCCAATATGACATCACAGCCCTCCCCACCCAACCCGTCCCAGCGGGCACCTGAAGAGATGAGGCTATTGAGGTCACGAATGACGGCTCGGAAGGAGGGCCTCTGGACCGGCTCATAGGCCATGCACTGTTGAATCAGCAGGGCCAGCTCTGTCCACTTGGGGGCCGGCAGCTGCTGCCGGTCCTCATAAAATTGGAGTTTCTGAGGGTGAGAGGAGCAGTCGGTAATCCCCAACCCAATAGACCCACCCCAATCTCCCCAGACTGGATGTCAGTCTGCCCTTCTGTCAAAGTGGGGGTTCGGAGACCGATGCCGGGTGAGGGGCTCTGACCTTAGCAGGATCCAGGGCACTGATGGGCATGGTGACGCCACTAAACACTTCCCAGACCGTGGCGCCGAAGCCCCACTTGTCAGCTTCCAAGCTAAGTGTCTGCGCCTCCCGGAGACACTCGGGGGCCACCCAGGGGATCCTGTCGGTGAGCACTGAGGGAATGAAAGTGGGATCAGGGATCCACTTCCTTGCCCTGCTCAGCCCCTCCCTCCTCCACCTCCAGGAACTTACTCTCCAGGCTTAACACAGCGGGGCTGACCCCAGGGTCACTCAGCTTGATGAAGGGCGGGCTCCCATCAGCCCCCTCCCGAGCCAGGAGCACCTTCCGGGCAGAGACATTGCCATGGGGCAGGCCTTTGTCCTCCTAAGGGGGCCAGACACAGGAAAATGCCCGGGAGGGTTTGATGAATGAAGAGTCTGTTTGGCAAACTCCTATACATCCTTCAAAACCCACTTGGTACTGCTCAGACATGCTCCAGCATCGTCCCTGACTCCTGACATCCTGTCTTGCCCCTCTAGTTCACCCCCTACACTGACCTGGCTATGTCCCTCCCCTTCTCAAACACCACCCCATCCTGTGACTCCCCAGTGCCTTTGACACAAAGTGAAAGCTCCTCAGCCTGGCATTCAAGGCCCTTGCTCAAGCTTCCAATGAACTTCCCTTCCACACTTGCACCCTGGTCTCCTGCCAACAGAACTGCCTGATAGGCCCCAGGGGATGCAACACACTATCTAGCCTGCAGGCCTTTGCCTAGGCTGTTCCCTCAGCCTGACATTCCTTCCTTCCTTTCTTCTCTTGATGAACTTCTACTCAACTTTTAAGGCCCTATCTCCAATGTTCCTTCTTCTAGGAAGCCTTTCTTCCTGCCCAGCCTCGTCATTCACCACACGCCCTGACATCCAAGAATGACTTGTTCTCTTCTAGTGTTCTCACAACCTGAACCTAAAATGCCCTCCCCTCGAACCCTTACCAAACTCCTATGCATACTACAGAGCCCACTCCCAATTCCTCTTCCACCCAGAGAAAGCCTTCCCTGGGAATGGAGGGTGGAGCAGGCAGAGGAGCACTCACCAGATAGTTGAGGGCGTAGGCCAGCTGTTTGACCACCTGCAGCTTCCAGCTGGCTGGCACCAGGTGGCCACGTTTTCGCAGATACATGTCTATGGCCCCCAGGTGTACAAATTCCTGCACCATGGTGCCTGGTTGGCAGCAGGGAGAGGCGGGGTTGGGAGACTGAACTGCACTTGTGTTGAGGAGGTTCTGCCAACACCCTGGCTCTCAGGGTCTCTCAAACTCTCATCTCTGTCTGTTCCCTCCCCTGCTGCCTCTGTTCATACAGTACTCACCTCTCCTCCCACCTCCATCTCTGAATGATTTGCCTGGAATGCCTGGAAGGTGTTGAGCCCTGTCTGTATCTGTATCTCACTTTTTTTTTTCTCTTTTCTTTTGAGACAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTAAGTAGCTGGAACTACAGGCGCATGCCACCACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTCTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGATCTCAGGTGATCCACTCGCCTCGGCTTTTCAATTACAGGCATGAGCCACCACGCCCAGCCTCTGTATCTCACTTCTAACCCTTTGCATATTCTGTGTCCTCTGCCTA
GCCATAGCTGACACCACGATACTTGACAATGAAATCACTGTGCAGTGCTTTGAGGATCTGAATCTCCCGCTGAAAGTCCCTCTGCTGGTCTGGCCCGCTGTGCTGCAGCTGTTTCACGGCCACCAGGGCACCTGTATTGTCGCCTAGCGGGTCATAGCGGCACAGCTCCACGCTGCCAAAGTTGCCCTGGGGGATAGCGGGACTGATGTCCAGGCACCTGGATGCTGCCCTGCCCTCTCCAACCCACCCTGGCCCTGCCCACCTTACCTTGCCCAGCTGTGAGATGTACTTGAGGTGTCTCTCCTCGAAGATCGTGGGGTCTTGGCAGGCATAGAGCTGGGCACCATTCCACAGCCCATCACGAGGTGCCAGGGCACCAGGTGTGGGGTCTGAGAGGAGCTCATAGTCTGGGGTGGGGGCATGGGCAGTGGTAAGCAGCGCCTCTCATCCTGGGCCCCACTCCTGAGTTGACTTGCTGTGCAACCTCCATCTGCATATTGACCCTCTCTGTGCATTATGGCAGGGCCATTGCAAGCCAAAGGGTACCTTGTGGAGACTGGAAAAAGGTGTCTCCCACTCTGTCCCAGGCAAAGGAAGCCTCCTCGTGCAGTGCACACCCTGTGCAACTCCACATGGCTACAAAGATGGAGGACATAATGAGAACTCATTTCCCCAGTTCCACTGCTATGAAATGTGGCCACATGACTGAGCTCAGGCTGATGGACAAGATATGCTGGGTGCCCCTCCAGTCCTGACCCATGGAAACCTAATACGGGGCCCTCCACACTCTCTCTTTTATCTGCAGAGGATCCAACGGGGACCCAACGCCTGAGGTGAGTGCAGCCACTAAGTGAGAGGTTCCTGTGGGCCTGGACACCCTCATTGAATGAAGACTAAATATCACACTGGGCATGGTTGTGTGTGCCTGTAATCCCAGCTATTTGGGAGACTAAGGCAGGAGGATTGCTTGAGCCAGTAATTCAAGACCAGCCTGGGGAACATAGCAAAACCCCATCACAGAAAAAAAAAAAAAAAAAAAAAAAATCCAGCCTGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTGGGTGGCTGAGGTGGACGGATCTCTTTGAGACCAGGAGTTCAAGACTAGCCCGGCCAACATGGCAAAACCCTGTCTTTACTAAAAAATACAAAAATTTAGCCGTGTTTGGTGGCACGCCCTTGTAATCCTAGCTACTTGGGAGTCTGAGGCGGGAGAATTGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCCAGGATCACGCCACTGCACTCCAGCCTAGGTGACAGAGGGAGATAGTGTCTCAAAAATATAAAATAAAATAAAATAAAAATGCATACAGGCATGCATCACCATGCCTGGCTAATTTTCTGTTTGTTTGTTTGTAGAGATGGAGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATCCACCTACCTATAGCTGGAACTATAGGCATGAGCCACTGCGCCCAGCCAAACATTTTTTTAAAAGAATGAAATAGACCAGACATGGTGGCTCACACCTGAAATCCCAGCACTTTAGGAGGTAGAGGTGGGCGGATCACCTGAGGTCAAGAGTTCGAGACCAGCCTAGCCAATATGGTGAAACCCCATATCTGCCAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTAGAGGTTCAAGGAGGTAGAGGTTGCAGTGAGCCGAAATTGTGCCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAATAAATAAATAAATAAAATATCATCATGTTGAACCTTGAACTGAGGGGACTGTTCGTTACAGTAGCTGTTGAAGCTCACACTGACTGTCACAGTCACCAACCCCTCCAACCTCACCAGACACACAGGGCGTGGCCTGCTGCAAACCACGCTCCTTCCACTGGGCCCAATATGACATCACAGCCCTCCCCACCCAACCCGTCCCAGCGGGCACTTGAAGAGATGAGGCTATTGAGGTCACGAATGACGGCTCGGAAGGAGGGCCTCTGGACCGGCTCATAGGCCATGCACTGTTGAATCAGCAGGGCCAGCTCTGTCCACTTGGGGGCCGGCAGCTGCTGCCGGTCCTCATAAAATTGGAGTTTCTGAGGGTGAGAGGAGCAGTCGGTAATCCCCAACCCAATAGACCCACCCCAATCTCCCCAGACTGGATGTCAGTCTGCCCTTCTGTCAAAGTGGGGGTTCGGAGACCGATGCCGGGTGAGGGGCTCTGACCTTAGCAGGATCCAGGGCACTGATGGGCATGGTGACGCCACTAAACACTTCCCAGACCGTGGCGCCGAAGCCCCACTTGTCAGCTTCCAAGCTAAGTGTCTGCGCCTCCCGGAGACACTCGGGGGCCACCCAGGGGATCCTGTCGGTGAGCACTGAGGGAATGAAAGTGGGATCAGGGATCCACTTCCTTGCCCTGCTCAGCCCCTCCCTCCTCCACCTCCAGGAACTTACTCTCCAGGCTTAACACAGCGGGGCTGACCCCAGGGTCACTCAGCTTGATGAAGGGCGGGCTCCCATCAGCCCCCTCCCGAGCCAGGAGCACCTTCCGGGCAGAGACATTGCCATGGGGCAGGCCTTTGTCCTCCTAAGGGGGCCAGACACAGGAAAATGCCCGGGAGGGTTTGATGAATGAAGAGTCTGTTTGGCAAACTCCTATACATCCTTCAAAACCCACTTGGTACTGCTCAGACATGCTCCAGCATCGTCCCTGACTCCTGACATCCTGTCTTGCCCCTCTAGTTCACCCCCTACACTGACCTGGCTATGTCCCTCCCCTTCTCAAACACCACCCCATCCTGTGACTCCCCAGTGCCTTTGACACAAAGTGAAAGCTCCTCAGCCTGGCATTCAAGGCCCTTGCTCAAGCTTCCAATGAACTTCCCTTCCACACTTGCACCCTGGTCTCCTGCCAACAGAACTGCCTGATAGGCCCCAGGGGATGCAACACACTATCTAGCCTGCAGGCCTTTGCCTAGGCTGTTCCCTCAGCCTGACATTCCTTCCTTCCTTTCTTCTCTTGATGAACTTCTACTCAACTTTTAAGGCCCTATCTCCAATGTTCCTTCTTCTAGGAAGCCTTTCTTCCTGCCCAGCCTCGTCATTCACCACACGCCCTGACATCCAAGAATGACTTGTTCTCTTCTAGTGTTCTCACAACCTGAACCTAAAATGCCCTCCCCTCGAACCCTTACCAAACTCCTATGCATACTACAGAGCCCACTCCCAATTCCTCTTCCACCCAGAGAAAGCCTTCCCTGGGAATGGAGGGTGGAGCAGGCAGAGGAGCACTCACCAGATAGTTGAGGGCGTAGGCCAGCTGTTTGACCACCTGCAGCTTCCAGCTGGCTGGCACCAGGTGGCCACGTTTTCGCAGATACATGTCTATGGCCCCCAGGTGTACAAATTCCTGCACCATGGTGCCTGGTTGGCAGCAGGGAGAGGCGGGGTTGGGAGACTGAACTGCACTTGTGTTGAGGAGGTTCTGCCAACACCCTGGCTCTCAGGGTCTCTCAAACTCTCATCTCTGTCTGTTCCCTCCCCTGCTGCCTCTGTTCATACAGTACTCACCTCTCCTCCCACCTCCATCTCTGAATGATTTGCCTGGAATGCCTGGAAGGTGTTGAGCCCTGTCTGTATCTGTATCTCACTTTTTTTTTTCTCTTTTCTTTTGAGACAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTAAGTAGCTGGAACTACAGGCGCATGCCACCACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTCTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGATCTCAGGTGATCCACTCGCCTCGGCTTTTCAATTACAGGCATGAGCCACCACGCCCAGCCTCTGTATCTCACTTCTAACCCTTTGCATATTCTGTGTCCTCTGCCTA
Task1_train_26913
The gene JAK3 (Janus kinase 3) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Severe combined immunodeficiency disease
GGGGCTGACCCCAGGGTCACTCAGCTTGATGAAGGGCGGGCTCCCATCAGCCCCCTCCCGAGCCAGGAGCACCTTCCGGGCAGAGACATTGCCATGGGGCAGGCCTTTGTCCTCCTAAGGGGGCCAGACACAGGAAAATGCCCGGGAGGGTTTGATGAATGAAGAGTCTGTTTGGCAAACTCCTATACATCCTTCAAAACCCACTTGGTACTGCTCAGACATGCTCCAGCATCGTCCCTGACTCCTGACATCCTGTCTTGCCCCTCTAGTTCACCCCCTACACTGACCTGGCTATGTCCCTCCCCTTCTCAAACACCACCCCATCCTGTGACTCCCCAGTGCCTTTGACACAAAGTGAAAGCTCCTCAGCCTGGCATTCAAGGCCCTTGCTCAAGCTTCCAATGAACTTCCCTTCCACACTTGCACCCTGGTCTCCTGCCAACAGAACTGCCTGATAGGCCCCAGGGGATGCAACACACTATCTAGCCTGCAGGCCTTTGCCTAGGCTGTTCCCTCAGCCTGACATTCCTTCCTTCCTTTCTTCTCTTGATGAACTTCTACTCAACTTTTAAGGCCCTATCTCCAATGTTCCTTCTTCTAGGAAGCCTTTCTTCCTGCCCAGCCTCGTCATTCACCACACGCCCTGACATCCAAGAATGACTTGTTCTCTTCTAGTGTTCTCACAACCTGAACCTAAAATGCCCTCCCCTCGAACCCTTACCAAACTCCTATGCATACTACAGAGCCCACTCCCAATTCCTCTTCCACCCAGAGAAAGCCTTCCCTGGGAATGGAGGGTGGAGCAGGCAGAGGAGCACTCACCAGATAGTTGAGGGCGTAGGCCAGCTGTTTGACCACCTGCAGCTTCCAGCTGGCTGGCACCAGGTGGCCACGTTTTCGCAGATACATGTCTATGGCCCCCAGGTGTACAAATTCCTGCACCATGGTGCCTGGTTGGCAGCAGGGAGAGGCGGGGTTGGGAGACTGAACTGCACTTGTGTTGAGGAGGTTCTGCCAACACCCTGGCTCTCAGGGTCTCTCAAACTCTCATCTCTGTCTGTTCCCTCCCCTGCTGCCTCTGTTCATACAGTACTCACCTCTCCTCCCACCTCCATCTCTGAATGATTTGCCTGGAATGCCTGGAAGGTGTTGAGCCCTGTCTGTATCTGTATCTCACTTTTTTTTTTCTCTTTTCTTTTGAGACAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTAAGTAGCTGGAACTACAGGCGCATGCCACCACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTCTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGATCTCAGGTGATCCACTCGCCTCGGCTTTTCAATTACAGGCATGAGCCACCACGCCCAGCCTCTGTATCTCACTTCTAACCCTTTGCATATTCTGTGTCCTCTGCCTAGAACACCCCTCTTCCTTTCCTAATCCACACTTGTCCTTATCTTTCCAGGTTAGAATGCATCTCTGTCTTCCCACAAGCATTGCCCAACCCCCAGGCTGGCCCAGCAGCCTCTCTGACCATCCACAGTGCTCCGTGCTGCCCTCCTCACACCTCATCACACCCTGCCTGTCACATTCTAGGCTCTGTCCCAGCTCCTGGCCCATCCTAGACTCCCAACCAATGAAACCAAGGCTCAGAAAGGTTACGTGACCTGTACAAAGCTGCAGAGATTAGAAAGCCAGGTTTGTCTGACTTCAGGTCATTCTGGGGCTGGATATGGGTGAGAACCTGGAGCCGCTTTCCAAGGAGTGATGATGGAGAGACATAAATAAAGGGTAATGAACACGGCTCCCATCCAGGGTGGCCCAGTGTGTTGCTGGGGCTGTCATATAGCGGCTCAGAACAGAGGTGGGAAGAACAGCCTAGACTTGGGTGAGGCAGGGGTGGGGTGGGTGGGTGGGGGGCTCTCACTGTCTCCAGCCATGCACACGCCGTGGAGCAGCACGAGATGCCGGTACGACACTTGGCTCATCAAGCTCGCTGCTTCCAGGAATGACTGGGGAAGGTGGGAAGGGAGAGAAGATGCGTGGGTTTCTTCCACTCCAATAATCCCAAATTTTGTGCTCACAGACCTGCCTTAGGGGAACACCTGGCCACAGGTCACCTTTGGCCCTGGAGTCTGCCATTAGTGCACACAGCACTACCATGATTTTCTGATACGGGACAGAAGTTCCCACTATCATCTATGGTTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCACTGCAACCTCCGCTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAATTTTTTTGTCAAGACGAGGTCTCGCTATGTTGCCTAGGCTGTTCTTGAACTCCTGGCTTCAAACCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACGCCCAGGTCCCTGTGTGTTTTTAAATTTCTCTGCATCCACGACCCCCTCTCCAGCCAGCCCCGACTCCAAAAGTCTGGTCCACATTGCTCTCACCTCCATGCAGTTCTTGTGCTTGGCATCCATGACCTTCAGCAGCACCTCTGTCTTTCGGGCCTCCCCATCCACCACCTCATGGCGACAGCCCCGGTAAATCTTGGTGAAGGACCCATGGCCCAGGTTCTCATGCTGAATGGTGAGGGGACAGCAGAAGAGGCCAGTGAGGGGGTTCCTGCAGGATCCCAGCCCAAGCGAGACATAGCTGCTGGCCCCATTTTACAGATGGGAAAACCGAGGCAAGGTAAAATTATAGCATATGCCTGAGGCCACGCATCTGAGTCTCTGGACCCCAGACTGAGGTATCGCCTCATTTCCCAGGGCCTCTTACCCACTCCAGGCTGTCAGCAGGGATCTTGTGAAATGTCATCTGACTCAGCTGGTATTGGGATTGGGGCTGAACCAAGGATGATGTGGGTGGGCTGTGACCTCTCTGGACCACGATCAGGTTGGACTTTTCTATGGGGAGAGGATGAGGGAGAAAAACCAGAAATCAGAGGTGAAAAGTCCCCAAGGGTTAGCTAACTCATGCCTTAGTTTGAGGTACCCTCTAGAAGCCGACCCTGAGATGAAGACTTCAGGGCACATGGCTTTTTGTTGTTGTTTTTGTTTTGTTGTTGCTGCTGCTGTTGAGACGGAGTCTCACTCTGTCATCCAGGCTGGGTGGGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCGGCCTCCCGAATAGCTGGGACTACAGGTGTGTGCCACCGTGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGTGTGCCAGCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCGAAGTGCTGGTATTACAGACGTGAGCCACTGTGCCTGGCTGGCACATGGTTTATTTGAAAGGAGATCCAGAAAGCCCCCATAGGGATTTGGGATGAGCGACAAGGAAGGAAGGAGCCCTGCAGGGGGCTTTAATGAGCAAGTGGCACTGTGGACAACCAGGGATCGGTTCTACCAGGGATTCTGGGAGACTCAGAAGAACTCACATCTCAGAATTGTCCCAT
GGGGCTGACCCCAGGGTCACTCAGCTTGATGAAGGGCGGGCTCCCATCAGCCCCCTCCCGAGCCAGGAGCACCTTCCGGGCAGAGACATTGCCATGGGGCAGGCCTTTGTCCTCCTAAGGGGGCCAGACACAGGAAAATGCCCGGGAGGGTTTGATGAATGAAGAGTCTGTTTGGCAAACTCCTATACATCCTTCAAAACCCACTTGGTACTGCTCAGACATGCTCCAGCATCGTCCCTGACTCCTGACATCCTGTCTTGCCCCTCTAGTTCACCCCCTACACTGACCTGGCTATGTCCCTCCCCTTCTCAAACACCACCCCATCCTGTGACTCCCCAGTGCCTTTGACACAAAGTGAAAGCTCCTCAGCCTGGCATTCAAGGCCCTTGCTCAAGCTTCCAATGAACTTCCCTTCCACACTTGCACCCTGGTCTCCTGCCAACAGAACTGCCTGATAGGCCCCAGGGGATGCAACACACTATCTAGCCTGCAGGCCTTTGCCTAGGCTGTTCCCTCAGCCTGACATTCCTTCCTTCCTTTCTTCTCTTGATGAACTTCTACTCAACTTTTAAGGCCCTATCTCCAATGTTCCTTCTTCTAGGAAGCCTTTCTTCCTGCCCAGCCTCGTCATTCACCACACGCCCTGACATCCAAGAATGACTTGTTCTCTTCTAGTGTTCTCACAACCTGAACCTAAAATGCCCTCCCCTCGAACCCTTACCAAACTCCTATGCATACTACAGAGCCCACTCCCAATTCCTCTTCCACCCAGAGAAAGCCTTCCCTGGGAATGGAGGGTGGAGCAGGCAGAGGAGCACTCACCAGATAGTTGAGGGCGTAGGCCAGCTGTTTGACCACCTGCAGCTTCCAGCTGGCTGGCACCAGGTGGCCACGTTTTCGCAGATACATGTCTATGGCCCCCAGGTGTACAAATTCCTGCACCATGGTGCCTGGTTGGCAGCAGGGAGAGGCGGGGTTGGGAGACTGAACTGCACTTGTGTTGAGGAGGTTCTGCCAACACCCTGGCTCTCAGGGTCTCTCAAACTCTCATCTCTGTCTGTTCCCTCCCCTGCTGCCTCTGTTCATACAGTACTCACCTCTCCTCCCACCTCCATCTCTGAATGATTTGCCTGGAATGCCTGGAAGGTGTTGAGCCCTGTCTGTATCTGTATCTCACTTTTTTTTTTCTCTTTTCTTTTGAGACAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTAAGTAGCTGGAACTACAGGCGCATGCCACCACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTCTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGATCTCAGGTGATCCACTCGCCTCGGCTTTTCAATTACAGGCATGAGCCACCACGCCCAGCCTCTGTATCTCACTTCTAACCCTTTGCATATTCTGTGTCCTCTGCCTAGAACACCCCTCTTCCTTTCCTAATCCACACTTGTCCTTATCTTTCCAGGTTAGAATGCATCTCTGTCTTCCCACAAGCATTGCCCAACCCCCAGGCTGGCCCAGCAGCCTCTCTGACCATCCACAGTGCTCCGTGCTGCCCTCCTCACACCTCATCACACCCTGCCTGTCACATTCTAGGCTCTGTCCCAGCTCCTGGCCCATCCTAGACTCCCAACCAATGAAACCAAGGCTCAGAAAGGTTACGTGACCTGTACAAAGCTGCAGAGATTAGAAAGCCAGGTTTGTCTGACTTCAGGTCATTCTGGGGCTGGATATGGGTGAGAACCTGGAGCCGCTTTCCAAGGAGTGATGATGGAGAGACATAAATAAAGGGTAATGAACACGGCTCCCATCCAGGGTGGCCCAGTGTGTTGCTGGGGCTGTCATATAGCGGCTCAGAACAGAGGTGGGAAGAACAGCCTAGACTTGGGTGAGGCAGGGGTGGGGTGGGTGGGTGGGGGGCTCTCACTGTCTCCAGCCATGCACACGCTGTGGAGCAGCACGAGATGCCGGTACGACACTTGGCTCATCAAGCTCGCTGCTTCCAGGAATGACTGGGGAAGGTGGGAAGGGAGAGAAGATGCGTGGGTTTCTTCCACTCCAATAATCCCAAATTTTGTGCTCACAGACCTGCCTTAGGGGAACACCTGGCCACAGGTCACCTTTGGCCCTGGAGTCTGCCATTAGTGCACACAGCACTACCATGATTTTCTGATACGGGACAGAAGTTCCCACTATCATCTATGGTTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCACTGCAACCTCCGCTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAATTTTTTTGTCAAGACGAGGTCTCGCTATGTTGCCTAGGCTGTTCTTGAACTCCTGGCTTCAAACCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACGCCCAGGTCCCTGTGTGTTTTTAAATTTCTCTGCATCCACGACCCCCTCTCCAGCCAGCCCCGACTCCAAAAGTCTGGTCCACATTGCTCTCACCTCCATGCAGTTCTTGTGCTTGGCATCCATGACCTTCAGCAGCACCTCTGTCTTTCGGGCCTCCCCATCCACCACCTCATGGCGACAGCCCCGGTAAATCTTGGTGAAGGACCCATGGCCCAGGTTCTCATGCTGAATGGTGAGGGGACAGCAGAAGAGGCCAGTGAGGGGGTTCCTGCAGGATCCCAGCCCAAGCGAGACATAGCTGCTGGCCCCATTTTACAGATGGGAAAACCGAGGCAAGGTAAAATTATAGCATATGCCTGAGGCCACGCATCTGAGTCTCTGGACCCCAGACTGAGGTATCGCCTCATTTCCCAGGGCCTCTTACCCACTCCAGGCTGTCAGCAGGGATCTTGTGAAATGTCATCTGACTCAGCTGGTATTGGGATTGGGGCTGAACCAAGGATGATGTGGGTGGGCTGTGACCTCTCTGGACCACGATCAGGTTGGACTTTTCTATGGGGAGAGGATGAGGGAGAAAAACCAGAAATCAGAGGTGAAAAGTCCCCAAGGGTTAGCTAACTCATGCCTTAGTTTGAGGTACCCTCTAGAAGCCGACCCTGAGATGAAGACTTCAGGGCACATGGCTTTTTGTTGTTGTTTTTGTTTTGTTGTTGCTGCTGCTGTTGAGACGGAGTCTCACTCTGTCATCCAGGCTGGGTGGGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCGGCCTCCCGAATAGCTGGGACTACAGGTGTGTGCCACCGTGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGTGTGCCAGCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCGAAGTGCTGGTATTACAGACGTGAGCCACTGTGCCTGGCTGGCACATGGTTTATTTGAAAGGAGATCCAGAAAGCCCCCATAGGGATTTGGGATGAGCGACAAGGAAGGAAGGAGCCCTGCAGGGGGCTTTAATGAGCAAGTGGCACTGTGGACAACCAGGGATCGGTTCTACCAGGGATTCTGGGAGACTCAGAAGAACTCACATCTCAGAATTGTCCCAT
Task1_train_26914
Assess the clinical impact of this variant on gene JAK3 (Janus kinase 3), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; T-B+ severe combined immunodeficiency due to JAK3 deficiency
GGGGCTGACCCCAGGGTCACTCAGCTTGATGAAGGGCGGGCTCCCATCAGCCCCCTCCCGAGCCAGGAGCACCTTCCGGGCAGAGACATTGCCATGGGGCAGGCCTTTGTCCTCCTAAGGGGGCCAGACACAGGAAAATGCCCGGGAGGGTTTGATGAATGAAGAGTCTGTTTGGCAAACTCCTATACATCCTTCAAAACCCACTTGGTACTGCTCAGACATGCTCCAGCATCGTCCCTGACTCCTGACATCCTGTCTTGCCCCTCTAGTTCACCCCCTACACTGACCTGGCTATGTCCCTCCCCTTCTCAAACACCACCCCATCCTGTGACTCCCCAGTGCCTTTGACACAAAGTGAAAGCTCCTCAGCCTGGCATTCAAGGCCCTTGCTCAAGCTTCCAATGAACTTCCCTTCCACACTTGCACCCTGGTCTCCTGCCAACAGAACTGCCTGATAGGCCCCAGGGGATGCAACACACTATCTAGCCTGCAGGCCTTTGCCTAGGCTGTTCCCTCAGCCTGACATTCCTTCCTTCCTTTCTTCTCTTGATGAACTTCTACTCAACTTTTAAGGCCCTATCTCCAATGTTCCTTCTTCTAGGAAGCCTTTCTTCCTGCCCAGCCTCGTCATTCACCACACGCCCTGACATCCAAGAATGACTTGTTCTCTTCTAGTGTTCTCACAACCTGAACCTAAAATGCCCTCCCCTCGAACCCTTACCAAACTCCTATGCATACTACAGAGCCCACTCCCAATTCCTCTTCCACCCAGAGAAAGCCTTCCCTGGGAATGGAGGGTGGAGCAGGCAGAGGAGCACTCACCAGATAGTTGAGGGCGTAGGCCAGCTGTTTGACCACCTGCAGCTTCCAGCTGGCTGGCACCAGGTGGCCACGTTTTCGCAGATACATGTCTATGGCCCCCAGGTGTACAAATTCCTGCACCATGGTGCCTGGTTGGCAGCAGGGAGAGGCGGGGTTGGGAGACTGAACTGCACTTGTGTTGAGGAGGTTCTGCCAACACCCTGGCTCTCAGGGTCTCTCAAACTCTCATCTCTGTCTGTTCCCTCCCCTGCTGCCTCTGTTCATACAGTACTCACCTCTCCTCCCACCTCCATCTCTGAATGATTTGCCTGGAATGCCTGGAAGGTGTTGAGCCCTGTCTGTATCTGTATCTCACTTTTTTTTTTCTCTTTTCTTTTGAGACAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTAAGTAGCTGGAACTACAGGCGCATGCCACCACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTCTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGATCTCAGGTGATCCACTCGCCTCGGCTTTTCAATTACAGGCATGAGCCACCACGCCCAGCCTCTGTATCTCACTTCTAACCCTTTGCATATTCTGTGTCCTCTGCCTAGAACACCCCTCTTCCTTTCCTAATCCACACTTGTCCTTATCTTTCCAGGTTAGAATGCATCTCTGTCTTCCCACAAGCATTGCCCAACCCCCAGGCTGGCCCAGCAGCCTCTCTGACCATCCACAGTGCTCCGTGCTGCCCTCCTCACACCTCATCACACCCTGCCTGTCACATTCTAGGCTCTGTCCCAGCTCCTGGCCCATCCTAGACTCCCAACCAATGAAACCAAGGCTCAGAAAGGTTACGTGACCTGTACAAAGCTGCAGAGATTAGAAAGCCAGGTTTGTCTGACTTCAGGTCATTCTGGGGCTGGATATGGGTGAGAACCTGGAGCCGCTTTCCAAGGAGTGATGATGGAGAGACATAAATAAAGGGTAATGAACACGGCTCCCATCCAGGGTGGCCCAGTGTGTTGCTGGGGCTGTCATATAGCGGCTCAGAACAGAGGTGGGAAGAACAGCCTAGACTTGGGTGAGGCAGGGGTGGGGTGGGTGGGTGGGGGGCTCTCACTGTCTCCAGCCATGCACACGCCGTGGAGCAGCACGAGATGCCGGTACGACACTTGGCTCATCAAGCTCGCTGCTTCCAGGAATGACTGGGGAAGGTGGGAAGGGAGAGAAGATGCGTGGGTTTCTTCCACTCCAATAATCCCAAATTTTGTGCTCACAGACCTGCCTTAGGGGAACACCTGGCCACAGGTCACCTTTGGCCCTGGAGTCTGCCATTAGTGCACACAGCACTACCATGATTTTCTGATACGGGACAGAAGTTCCCACTATCATCTATGGTTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCACTGCAACCTCCGCTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAATTTTTTTGTCAAGACGAGGTCTCGCTATGTTGCCTAGGCTGTTCTTGAACTCCTGGCTTCAAACCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACGCCCAGGTCCCTGTGTGTTTTTAAATTTCTCTGCATCCACGACCCCCTCTCCAGCCAGCCCCGACTCCAAAAGTCTGGTCCACATTGCTCTCACCTCCATGCAGTTCTTGTGCTTGGCATCCATGACCTTCAGCAGCACCTCTGTCTTTCGGGCCTCCCCATCCACCACCTCATGGCGACAGCCCCGGTAAATCTTGGTGAAGGACCCATGGCCCAGGTTCTCATGCTGAATGGTGAGGGGACAGCAGAAGAGGCCAGTGAGGGGGTTCCTGCAGGATCCCAGCCCAAGCGAGACATAGCTGCTGGCCCCATTTTACAGATGGGAAAACCGAGGCAAGGTAAAATTATAGCATATGCCTGAGGCCACGCATCTGAGTCTCTGGACCCCAGACTGAGGTATCGCCTCATTTCCCAGGGCCTCTTACCCACTCCAGGCTGTCAGCAGGGATCTTGTGAAATGTCATCTGACTCAGCTGGTATTGGGATTGGGGCTGAACCAAGGATGATGTGGGTGGGCTGTGACCTCTCTGGACCACGATCAGGTTGGACTTTTCTATGGGGAGAGGATGAGGGAGAAAAACCAGAAATCAGAGGTGAAAAGTCCCCAAGGGTTAGCTAACTCATGCCTTAGTTTGAGGTACCCTCTAGAAGCCGACCCTGAGATGAAGACTTCAGGGCACATGGCTTTTTGTTGTTGTTTTTGTTTTGTTGTTGCTGCTGCTGTTGAGACGGAGTCTCACTCTGTCATCCAGGCTGGGTGGGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCGGCCTCCCGAATAGCTGGGACTACAGGTGTGTGCCACCGTGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGTGTGCCAGCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCGAAGTGCTGGTATTACAGACGTGAGCCACTGTGCCTGGCTGGCACATGGTTTATTTGAAAGGAGATCCAGAAAGCCCCCATAGGGATTTGGGATGAGCGACAAGGAAGGAAGGAGCCCTGCAGGGGGCTTTAATGAGCAAGTGGCACTGTGGACAACCAGGGATCGGTTCTACCAGGGATTCTGGGAGACTCAGAAGAACTCACATCTCAGAATTGTCCCAT
GGGGCTGACCCCAGGGTCACTCAGCTTGATGAAGGGCGGGCTCCCATCAGCCCCCTCCCGAGCCAGGAGCACCTTCCGGGCAGAGACATTGCCATGGGGCAGGCCTTTGTCCTCCTAAGGGGGCCAGACACAGGAAAATGCCCGGGAGGGTTTGATGAATGAAGAGTCTGTTTGGCAAACTCCTATACATCCTTCAAAACCCACTTGGTACTGCTCAGACATGCTCCAGCATCGTCCCTGACTCCTGACATCCTGTCTTGCCCCTCTAGTTCACCCCCTACACTGACCTGGCTATGTCCCTCCCCTTCTCAAACACCACCCCATCCTGTGACTCCCCAGTGCCTTTGACACAAAGTGAAAGCTCCTCAGCCTGGCATTCAAGGCCCTTGCTCAAGCTTCCAATGAACTTCCCTTCCACACTTGCACCCTGGTCTCCTGCCAACAGAACTGCCTGATAGGCCCCAGGGGATGCAACACACTATCTAGCCTGCAGGCCTTTGCCTAGGCTGTTCCCTCAGCCTGACATTCCTTCCTTCCTTTCTTCTCTTGATGAACTTCTACTCAACTTTTAAGGCCCTATCTCCAATGTTCCTTCTTCTAGGAAGCCTTTCTTCCTGCCCAGCCTCGTCATTCACCACACGCCCTGACATCCAAGAATGACTTGTTCTCTTCTAGTGTTCTCACAACCTGAACCTAAAATGCCCTCCCCTCGAACCCTTACCAAACTCCTATGCATACTACAGAGCCCACTCCCAATTCCTCTTCCACCCAGAGAAAGCCTTCCCTGGGAATGGAGGGTGGAGCAGGCAGAGGAGCACTCACCAGATAGTTGAGGGCGTAGGCCAGCTGTTTGACCACCTGCAGCTTCCAGCTGGCTGGCACCAGGTGGCCACGTTTTCGCAGATACATGTCTATGGCCCCCAGGTGTACAAATTCCTGCACCATGGTGCCTGGTTGGCAGCAGGGAGAGGCGGGGTTGGGAGACTGAACTGCACTTGTGTTGAGGAGGTTCTGCCAACACCCTGGCTCTCAGGGTCTCTCAAACTCTCATCTCTGTCTGTTCCCTCCCCTGCTGCCTCTGTTCATACAGTACTCACCTCTCCTCCCACCTCCATCTCTGAATGATTTGCCTGGAATGCCTGGAAGGTGTTGAGCCCTGTCTGTATCTGTATCTCACTTTTTTTTTTCTCTTTTCTTTTGAGACAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTAAGTAGCTGGAACTACAGGCGCATGCCACCACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTCTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGATCTCAGGTGATCCACTCGCCTCGGCTTTTCAATTACAGGCATGAGCCACCACGCCCAGCCTCTGTATCTCACTTCTAACCCTTTGCATATTCTGTGTCCTCTGCCTAGAACACCCCTCTTCCTTTCCTAATCCACACTTGTCCTTATCTTTCCAGGTTAGAATGCATCTCTGTCTTCCCACAAGCATTGCCCAACCCCCAGGCTGGCCCAGCAGCCTCTCTGACCATCCACAGTGCTCCGTGCTGCCCTCCTCACACCTCATCACACCCTGCCTGTCACATTCTAGGCTCTGTCCCAGCTCCTGGCCCATCCTAGACTCCCAACCAATGAAACCAAGGCTCAGAAAGGTTACGTGACCTGTACAAAGCTGCAGAGATTAGAAAGCCAGGTTTGTCTGACTTCAGGTCATTCTGGGGCTGGATATGGGTGAGAACCTGGAGCCGCTTTCCAAGGAGTGATGATGGAGAGACATAAATAAAGGGTAATGAACACGGCTCCCATCCAGGGTGGCCCAGTGTGTTGCTGGGGCTGTCATATAGCGGCTCAGAACAGAGGTGGGAAGAACAGCCTAGACTTGGGTGAGGCAGGGGTGGGGTGGGTGGGTGGGGGGCTCTCACTGTCTCCAGCCATGCACACGCTGTGGAGCAGCACGAGATGCCGGTACGACACTTGGCTCATCAAGCTCGCTGCTTCCAGGAATGACTGGGGAAGGTGGGAAGGGAGAGAAGATGCGTGGGTTTCTTCCACTCCAATAATCCCAAATTTTGTGCTCACAGACCTGCCTTAGGGGAACACCTGGCCACAGGTCACCTTTGGCCCTGGAGTCTGCCATTAGTGCACACAGCACTACCATGATTTTCTGATACGGGACAGAAGTTCCCACTATCATCTATGGTTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCACTGCAACCTCCGCTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAATTTTTTTGTCAAGACGAGGTCTCGCTATGTTGCCTAGGCTGTTCTTGAACTCCTGGCTTCAAACCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACGCCCAGGTCCCTGTGTGTTTTTAAATTTCTCTGCATCCACGACCCCCTCTCCAGCCAGCCCCGACTCCAAAAGTCTGGTCCACATTGCTCTCACCTCCATGCAGTTCTTGTGCTTGGCATCCATGACCTTCAGCAGCACCTCTGTCTTTCGGGCCTCCCCATCCACCACCTCATGGCGACAGCCCCGGTAAATCTTGGTGAAGGACCCATGGCCCAGGTTCTCATGCTGAATGGTGAGGGGACAGCAGAAGAGGCCAGTGAGGGGGTTCCTGCAGGATCCCAGCCCAAGCGAGACATAGCTGCTGGCCCCATTTTACAGATGGGAAAACCGAGGCAAGGTAAAATTATAGCATATGCCTGAGGCCACGCATCTGAGTCTCTGGACCCCAGACTGAGGTATCGCCTCATTTCCCAGGGCCTCTTACCCACTCCAGGCTGTCAGCAGGGATCTTGTGAAATGTCATCTGACTCAGCTGGTATTGGGATTGGGGCTGAACCAAGGATGATGTGGGTGGGCTGTGACCTCTCTGGACCACGATCAGGTTGGACTTTTCTATGGGGAGAGGATGAGGGAGAAAAACCAGAAATCAGAGGTGAAAAGTCCCCAAGGGTTAGCTAACTCATGCCTTAGTTTGAGGTACCCTCTAGAAGCCGACCCTGAGATGAAGACTTCAGGGCACATGGCTTTTTGTTGTTGTTTTTGTTTTGTTGTTGCTGCTGCTGTTGAGACGGAGTCTCACTCTGTCATCCAGGCTGGGTGGGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCGGCCTCCCGAATAGCTGGGACTACAGGTGTGTGCCACCGTGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGTGTGCCAGCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCGAAGTGCTGGTATTACAGACGTGAGCCACTGTGCCTGGCTGGCACATGGTTTATTTGAAAGGAGATCCAGAAAGCCCCCATAGGGATTTGGGATGAGCGACAAGGAAGGAAGGAGCCCTGCAGGGGGCTTTAATGAGCAAGTGGCACTGTGGACAACCAGGGATCGGTTCTACCAGGGATTCTGGGAGACTCAGAAGAACTCACATCTCAGAATTGTCCCAT
Task1_train_26915
Mutation context: Chromosome 19, Gene JAK3 (Janus kinase 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Adenoid cystic carcinoma
GGGGCTGACCCCAGGGTCACTCAGCTTGATGAAGGGCGGGCTCCCATCAGCCCCCTCCCGAGCCAGGAGCACCTTCCGGGCAGAGACATTGCCATGGGGCAGGCCTTTGTCCTCCTAAGGGGGCCAGACACAGGAAAATGCCCGGGAGGGTTTGATGAATGAAGAGTCTGTTTGGCAAACTCCTATACATCCTTCAAAACCCACTTGGTACTGCTCAGACATGCTCCAGCATCGTCCCTGACTCCTGACATCCTGTCTTGCCCCTCTAGTTCACCCCCTACACTGACCTGGCTATGTCCCTCCCCTTCTCAAACACCACCCCATCCTGTGACTCCCCAGTGCCTTTGACACAAAGTGAAAGCTCCTCAGCCTGGCATTCAAGGCCCTTGCTCAAGCTTCCAATGAACTTCCCTTCCACACTTGCACCCTGGTCTCCTGCCAACAGAACTGCCTGATAGGCCCCAGGGGATGCAACACACTATCTAGCCTGCAGGCCTTTGCCTAGGCTGTTCCCTCAGCCTGACATTCCTTCCTTCCTTTCTTCTCTTGATGAACTTCTACTCAACTTTTAAGGCCCTATCTCCAATGTTCCTTCTTCTAGGAAGCCTTTCTTCCTGCCCAGCCTCGTCATTCACCACACGCCCTGACATCCAAGAATGACTTGTTCTCTTCTAGTGTTCTCACAACCTGAACCTAAAATGCCCTCCCCTCGAACCCTTACCAAACTCCTATGCATACTACAGAGCCCACTCCCAATTCCTCTTCCACCCAGAGAAAGCCTTCCCTGGGAATGGAGGGTGGAGCAGGCAGAGGAGCACTCACCAGATAGTTGAGGGCGTAGGCCAGCTGTTTGACCACCTGCAGCTTCCAGCTGGCTGGCACCAGGTGGCCACGTTTTCGCAGATACATGTCTATGGCCCCCAGGTGTACAAATTCCTGCACCATGGTGCCTGGTTGGCAGCAGGGAGAGGCGGGGTTGGGAGACTGAACTGCACTTGTGTTGAGGAGGTTCTGCCAACACCCTGGCTCTCAGGGTCTCTCAAACTCTCATCTCTGTCTGTTCCCTCCCCTGCTGCCTCTGTTCATACAGTACTCACCTCTCCTCCCACCTCCATCTCTGAATGATTTGCCTGGAATGCCTGGAAGGTGTTGAGCCCTGTCTGTATCTGTATCTCACTTTTTTTTTTCTCTTTTCTTTTGAGACAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTAAGTAGCTGGAACTACAGGCGCATGCCACCACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTCTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGATCTCAGGTGATCCACTCGCCTCGGCTTTTCAATTACAGGCATGAGCCACCACGCCCAGCCTCTGTATCTCACTTCTAACCCTTTGCATATTCTGTGTCCTCTGCCTAGAACACCCCTCTTCCTTTCCTAATCCACACTTGTCCTTATCTTTCCAGGTTAGAATGCATCTCTGTCTTCCCACAAGCATTGCCCAACCCCCAGGCTGGCCCAGCAGCCTCTCTGACCATCCACAGTGCTCCGTGCTGCCCTCCTCACACCTCATCACACCCTGCCTGTCACATTCTAGGCTCTGTCCCAGCTCCTGGCCCATCCTAGACTCCCAACCAATGAAACCAAGGCTCAGAAAGGTTACGTGACCTGTACAAAGCTGCAGAGATTAGAAAGCCAGGTTTGTCTGACTTCAGGTCATTCTGGGGCTGGATATGGGTGAGAACCTGGAGCCGCTTTCCAAGGAGTGATGATGGAGAGACATAAATAAAGGGTAATGAACACGGCTCCCATCCAGGGTGGCCCAGTGTGTTGCTGGGGCTGTCATATAGCGGCTCAGAACAGAGGTGGGAAGAACAGCCTAGACTTGGGTGAGGCAGGGGTGGGGTGGGTGGGTGGGGGGCTCTCACTGTCTCCAGCCATGCACACGCCGTGGAGCAGCACGAGATGCCGGTACGACACTTGGCTCATCAAGCTCGCTGCTTCCAGGAATGACTGGGGAAGGTGGGAAGGGAGAGAAGATGCGTGGGTTTCTTCCACTCCAATAATCCCAAATTTTGTGCTCACAGACCTGCCTTAGGGGAACACCTGGCCACAGGTCACCTTTGGCCCTGGAGTCTGCCATTAGTGCACACAGCACTACCATGATTTTCTGATACGGGACAGAAGTTCCCACTATCATCTATGGTTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCACTGCAACCTCCGCTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAATTTTTTTGTCAAGACGAGGTCTCGCTATGTTGCCTAGGCTGTTCTTGAACTCCTGGCTTCAAACCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACGCCCAGGTCCCTGTGTGTTTTTAAATTTCTCTGCATCCACGACCCCCTCTCCAGCCAGCCCCGACTCCAAAAGTCTGGTCCACATTGCTCTCACCTCCATGCAGTTCTTGTGCTTGGCATCCATGACCTTCAGCAGCACCTCTGTCTTTCGGGCCTCCCCATCCACCACCTCATGGCGACAGCCCCGGTAAATCTTGGTGAAGGACCCATGGCCCAGGTTCTCATGCTGAATGGTGAGGGGACAGCAGAAGAGGCCAGTGAGGGGGTTCCTGCAGGATCCCAGCCCAAGCGAGACATAGCTGCTGGCCCCATTTTACAGATGGGAAAACCGAGGCAAGGTAAAATTATAGCATATGCCTGAGGCCACGCATCTGAGTCTCTGGACCCCAGACTGAGGTATCGCCTCATTTCCCAGGGCCTCTTACCCACTCCAGGCTGTCAGCAGGGATCTTGTGAAATGTCATCTGACTCAGCTGGTATTGGGATTGGGGCTGAACCAAGGATGATGTGGGTGGGCTGTGACCTCTCTGGACCACGATCAGGTTGGACTTTTCTATGGGGAGAGGATGAGGGAGAAAAACCAGAAATCAGAGGTGAAAAGTCCCCAAGGGTTAGCTAACTCATGCCTTAGTTTGAGGTACCCTCTAGAAGCCGACCCTGAGATGAAGACTTCAGGGCACATGGCTTTTTGTTGTTGTTTTTGTTTTGTTGTTGCTGCTGCTGTTGAGACGGAGTCTCACTCTGTCATCCAGGCTGGGTGGGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCGGCCTCCCGAATAGCTGGGACTACAGGTGTGTGCCACCGTGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGTGTGCCAGCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCGAAGTGCTGGTATTACAGACGTGAGCCACTGTGCCTGGCTGGCACATGGTTTATTTGAAAGGAGATCCAGAAAGCCCCCATAGGGATTTGGGATGAGCGACAAGGAAGGAAGGAGCCCTGCAGGGGGCTTTAATGAGCAAGTGGCACTGTGGACAACCAGGGATCGGTTCTACCAGGGATTCTGGGAGACTCAGAAGAACTCACATCTCAGAATTGTCCCAT
GGGGCTGACCCCAGGGTCACTCAGCTTGATGAAGGGCGGGCTCCCATCAGCCCCCTCCCGAGCCAGGAGCACCTTCCGGGCAGAGACATTGCCATGGGGCAGGCCTTTGTCCTCCTAAGGGGGCCAGACACAGGAAAATGCCCGGGAGGGTTTGATGAATGAAGAGTCTGTTTGGCAAACTCCTATACATCCTTCAAAACCCACTTGGTACTGCTCAGACATGCTCCAGCATCGTCCCTGACTCCTGACATCCTGTCTTGCCCCTCTAGTTCACCCCCTACACTGACCTGGCTATGTCCCTCCCCTTCTCAAACACCACCCCATCCTGTGACTCCCCAGTGCCTTTGACACAAAGTGAAAGCTCCTCAGCCTGGCATTCAAGGCCCTTGCTCAAGCTTCCAATGAACTTCCCTTCCACACTTGCACCCTGGTCTCCTGCCAACAGAACTGCCTGATAGGCCCCAGGGGATGCAACACACTATCTAGCCTGCAGGCCTTTGCCTAGGCTGTTCCCTCAGCCTGACATTCCTTCCTTCCTTTCTTCTCTTGATGAACTTCTACTCAACTTTTAAGGCCCTATCTCCAATGTTCCTTCTTCTAGGAAGCCTTTCTTCCTGCCCAGCCTCGTCATTCACCACACGCCCTGACATCCAAGAATGACTTGTTCTCTTCTAGTGTTCTCACAACCTGAACCTAAAATGCCCTCCCCTCGAACCCTTACCAAACTCCTATGCATACTACAGAGCCCACTCCCAATTCCTCTTCCACCCAGAGAAAGCCTTCCCTGGGAATGGAGGGTGGAGCAGGCAGAGGAGCACTCACCAGATAGTTGAGGGCGTAGGCCAGCTGTTTGACCACCTGCAGCTTCCAGCTGGCTGGCACCAGGTGGCCACGTTTTCGCAGATACATGTCTATGGCCCCCAGGTGTACAAATTCCTGCACCATGGTGCCTGGTTGGCAGCAGGGAGAGGCGGGGTTGGGAGACTGAACTGCACTTGTGTTGAGGAGGTTCTGCCAACACCCTGGCTCTCAGGGTCTCTCAAACTCTCATCTCTGTCTGTTCCCTCCCCTGCTGCCTCTGTTCATACAGTACTCACCTCTCCTCCCACCTCCATCTCTGAATGATTTGCCTGGAATGCCTGGAAGGTGTTGAGCCCTGTCTGTATCTGTATCTCACTTTTTTTTTTCTCTTTTCTTTTGAGACAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTAAGTAGCTGGAACTACAGGCGCATGCCACCACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTCTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGATCTCAGGTGATCCACTCGCCTCGGCTTTTCAATTACAGGCATGAGCCACCACGCCCAGCCTCTGTATCTCACTTCTAACCCTTTGCATATTCTGTGTCCTCTGCCTAGAACACCCCTCTTCCTTTCCTAATCCACACTTGTCCTTATCTTTCCAGGTTAGAATGCATCTCTGTCTTCCCACAAGCATTGCCCAACCCCCAGGCTGGCCCAGCAGCCTCTCTGACCATCCACAGTGCTCCGTGCTGCCCTCCTCACACCTCATCACACCCTGCCTGTCACATTCTAGGCTCTGTCCCAGCTCCTGGCCCATCCTAGACTCCCAACCAATGAAACCAAGGCTCAGAAAGGTTACGTGACCTGTACAAAGCTGCAGAGATTAGAAAGCCAGGTTTGTCTGACTTCAGGTCATTCTGGGGCTGGATATGGGTGAGAACCTGGAGCCGCTTTCCAAGGAGTGATGATGGAGAGACATAAATAAAGGGTAATGAACACGGCTCCCATCCAGGGTGGCCCAGTGTGTTGCTGGGGCTGTCATATAGCGGCTCAGAACAGAGGTGGGAAGAACAGCCTAGACTTGGGTGAGGCAGGGGTGGGGTGGGTGGGTGGGGGGCTCTCACTGTCTCCAGCCATGCACACGCTGTGGAGCAGCACGAGATGCCGGTACGACACTTGGCTCATCAAGCTCGCTGCTTCCAGGAATGACTGGGGAAGGTGGGAAGGGAGAGAAGATGCGTGGGTTTCTTCCACTCCAATAATCCCAAATTTTGTGCTCACAGACCTGCCTTAGGGGAACACCTGGCCACAGGTCACCTTTGGCCCTGGAGTCTGCCATTAGTGCACACAGCACTACCATGATTTTCTGATACGGGACAGAAGTTCCCACTATCATCTATGGTTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCACTGCAACCTCCGCTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAATTTTTTTGTCAAGACGAGGTCTCGCTATGTTGCCTAGGCTGTTCTTGAACTCCTGGCTTCAAACCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACGCCCAGGTCCCTGTGTGTTTTTAAATTTCTCTGCATCCACGACCCCCTCTCCAGCCAGCCCCGACTCCAAAAGTCTGGTCCACATTGCTCTCACCTCCATGCAGTTCTTGTGCTTGGCATCCATGACCTTCAGCAGCACCTCTGTCTTTCGGGCCTCCCCATCCACCACCTCATGGCGACAGCCCCGGTAAATCTTGGTGAAGGACCCATGGCCCAGGTTCTCATGCTGAATGGTGAGGGGACAGCAGAAGAGGCCAGTGAGGGGGTTCCTGCAGGATCCCAGCCCAAGCGAGACATAGCTGCTGGCCCCATTTTACAGATGGGAAAACCGAGGCAAGGTAAAATTATAGCATATGCCTGAGGCCACGCATCTGAGTCTCTGGACCCCAGACTGAGGTATCGCCTCATTTCCCAGGGCCTCTTACCCACTCCAGGCTGTCAGCAGGGATCTTGTGAAATGTCATCTGACTCAGCTGGTATTGGGATTGGGGCTGAACCAAGGATGATGTGGGTGGGCTGTGACCTCTCTGGACCACGATCAGGTTGGACTTTTCTATGGGGAGAGGATGAGGGAGAAAAACCAGAAATCAGAGGTGAAAAGTCCCCAAGGGTTAGCTAACTCATGCCTTAGTTTGAGGTACCCTCTAGAAGCCGACCCTGAGATGAAGACTTCAGGGCACATGGCTTTTTGTTGTTGTTTTTGTTTTGTTGTTGCTGCTGCTGTTGAGACGGAGTCTCACTCTGTCATCCAGGCTGGGTGGGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCGGCCTCCCGAATAGCTGGGACTACAGGTGTGTGCCACCGTGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGTGTGCCAGCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCGAAGTGCTGGTATTACAGACGTGAGCCACTGTGCCTGGCTGGCACATGGTTTATTTGAAAGGAGATCCAGAAAGCCCCCATAGGGATTTGGGATGAGCGACAAGGAAGGAAGGAGCCCTGCAGGGGGCTTTAATGAGCAAGTGGCACTGTGGACAACCAGGGATCGGTTCTACCAGGGATTCTGGGAGACTCAGAAGAACTCACATCTCAGAATTGTCCCAT
Task1_train_26916
A mutation on Chromosome 19 affecting JAK3 (Janus kinase 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; T-B+ severe combined immunodeficiency due to JAK3 deficiency
CAGGAGATCAACACCATCCTGGCTAACACCGTGAAACCCCGTCGCTACTGAAAATACAAAAAAATAGCCGGGCGTGGTGGCGAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGACCCTGGGAAGCAGAGGTTGCATTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAAAGAAAAAAGAAAATCAGCCGTAAGTCTTGGCCTCTTCTGGGAGATTGTTTGTTTGTTTGTTTGTTTTAATAGAGACAGGGTCTTGCTTGGTTGCCCAGGCTGGAGTGCAATCTCAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCGGAGTCGCTGGGACTACAGGTCAACCACCACACCCAGCTATTTTTTTTTCTTTTTTTGTAGAGATGGGGTCTCTCCTGTTGCCTAGACTTGTCTCCAACTCCTGAGTTCAAACAATCCTCCTGCCTTGGCCCCTCAAAGCGCTGCGATTGCAGGTGTGCCCCACTATGCCTGGCCCTTCCTGGGAGATTAAACAAGAGGCTGTAGGTGAAGGTGGGCGACTTGTCCATCTCCAGGAAATGGCCCTGGGGTCAGAGAGAGAGAGAGTAGTGGTCGCCCTGTGAAGCAGAAGGAATACTTCAGCTTCACTGAGCGCTGACTGTGCGGCAGGTGTGGTTTGAAAACTTGACCCCTGTCCAGGGCTCCTGGAAGGTGAGGACACTGAGGCATAGAGAAGGGGAGGGGCCCTGAGTGGCCACAGAGGCCGGGAATGGGGGACAGGTCCTTACGTGATGGGGCCGTGGCACTGCTCGGCCACTTCCTCCAGCAGCCTCGGCGGTGCCACCTCCTTGCAGAAGAAGTGCTGGGAGTCCGTGGTCAGCCGGAAGTAGCCGTCCACGAGCGCCACGAACGACAGAGCCTCGGGCAGCCCTGGGAACTCGGCCTCCTGCGAGGGACAAGCGTCAGAGCCCAGTGAAACCCGAGGGTGCCGGTCCCGCCCTCGGGGTAAGGCTGAAGGGGAGGGGAATCCTGCACCCACTAAAATCTGGTTGTCTGTCCTGGTAACAGTGACCAGGCGGTGCTCTCCGGCCGGGCCAACGCGCGGGGCCTGCTTGATGCTAATGTCTACGATTTCTGGAAAGTCGCAGAAGGGCTGGAGGACCTGGGAAGGAGGGGGAGTACCGAAGTGGGGGCCCAGCTGGACCCCGCCAAACCACGCCCATGAACCCACCCCCAAGCCACACCATCCACTCCCTATCCCTTTGCCATTCAACCCTTCCAAGCCGCGCCCCCTCCTATCAACTCCAACCTCTCAACACCTCCCCTACCCATCCCCAAACATCTCCCACCCGCTCTGCCAATCCCCGCCTCCTTCTCTCTGCCGGACCCCGCCCCTTGATCCCTGCCCCGCTTCGCAGCCTCCCAGCTCTCGGAGCCTCACTCTGCCTCTTAGTCTTGCCTCGTTCCAGCGCCCACCCACCCACTCCTCAACCCCTCCCATTTTCATTCCCGGGTCGCTCAGCCCAACCCTTCACTCAGTTTGCCCCTCCCATTCCCGCAGTCTCCTCCCTCACTAAGCCCCGCCCCTCATTAAGCCTCGCCCACTTCCCCAAGTCTTTCGTTTTGGCTCCGCCCCACATCCCCTACCACTCTCCGGCCCCTCCCCGAGCCCCGCCCCCACGTTGGCCCCGCCCAGCGGGGGAGTCCGCCCTCACCTCCTGTTCTCCCTGGGTCCAGGCGATGCCGCCGTCACCAGCCACGCGGAGCAGCCCCAGCCCGTCGTGGCCACCAAGGGCCCCAGGGAGGCCCACGTGGAAGGTCTCGGCGGCCCCGGCTGGATCCAGCCGCTCCAGGTCCATGATGTACTTGGCCATGAGCGAGTGCCGGTCTGCCTGGCAGGCGGCCACGCGGCGCAGGGCTCTGCGCACCGTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCAGGTCGCGCAGGCTTGGGGGTAGGCAGGCCTTGTAGCTGCAGGGGTTGGAGGGGAGGGAGCCGGCCCTCAGCGTCGGGAGGGGTCCCCGCGGGGACACACACAAACCCAGGCTTTAGCCCAGGGGCTGGGGTGCGGCCCTAGTTGGGGCACCAGGCACACACAGACTCTCATTCAGGGTCAGGTATGAGGACCGGACCTCAGAGTAGGGGAGGGCCATTGGCGCCCACAGGTCGGACAGGGACCCCACAGGCCTTTTAGCTGGGGGAGGTCAGGTGTCTGTCCAGCTGGAGCCTGGGGGTGGAGAGGGCTGGGTTCGTGGGAGGCCCTGGGTCATAGGAACACCCTGAAAGCTTGCAGGAGAACTCCATGGTGGGAGCCCGGCAAAGCCCCGATGGAGCCCACGTTGCTCACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCTCTCACCTGACAGTCTTCAGCAGCTCTCCCGGCCGCTGGGCCTGCTCTCGCGCCATCCGGGCCAGGTCCAACACGGCCAGGCTGAGACACTCACCCTGCTCCTTGAGACTGAGGCCCACGGGGAGGCGCCCACTCACCAGGTCACTGCGGTGCTGGGGGGCCGCCACAGGGAGCATCAGCTGAGGCCACCCAACTTCAAGCCCTGTTGTTAACCTGCAGACCCCCCCAATCCTGGGCTGACCCCCACCCCTGGACTGCCACAGGGAGGGTCAGACGAGGCCCCACCTGATTGCATGCCAGTCCTCATGTTGCCCCTTGGACCCCCAACCCCCTGGGTCAAACCCCAGGCAGAACCCCACCTGGGCAAAGAGGTGCTCCAGGACTGGCAGGTCAAGGATAGCACTGGCCAAATCCTTGCGTAGCCCGAAGCGGTGGCACTTCTCCAGCCCAAACCAATTGGGGAAGTAAAAGCTGTGAGGAGAGGAGAGAACCCTGGGATGAAAGTGCAACCCAGCCTCAGTAGGAGTGACATTATGGTGGGGGCGAGGGACAGATTCTGCGGAGGCCTCACAGAGCCCAGCTTGTACCTTTAACTTGCTGTGTGACCTTGGGCAAGTGACCCACCCTCTCTGGTCTGTTTCCTCATCTGAGAAATGGGTAGTGACCATACCTCCCTGGGGCAGGGGTGTGGGCACCTCGAAATGCAAGGAGATGATAAAATTGTACAATCCCTGGGGGCTGGGGGGCACTTCCTACCGAATCCTGTACAGCAGGACTTGGGTGCTGGCATCCTCCACGGAGAAGATGTGGCTCGGGGGGAACCAGCAGGACAGGTCCTCCGTGGCCAGAGCAAAGAGGGAGTGGTACACAGGCAGGATGCCTACAGGGGATGGTCCCATCAGCTCCCTCCTGAGTCACCCCATCTGTGCCCTTCAGGAGTGCCAGCATCATACCCAACCGTCCAGATCCTTCCATACCTCAAGGTATGACCAGCTGTTCCCTTCATGTGCCGTCACACCTCTCCGTCTGCACAGGCCATTCCCTCTGCCTCAGAAGCCAACCCTGCACACCCTTCTCCATTACAAAACTCCTACTCATCCCCCAAAGCCCCAGCTCCGATGCTGACTTCTGCAGGCAACTATTCCAGCTTCCAATCTTGGCCCCACACAGCCCCATCCTTCCCTCTGGCCCGATCCACTAGGGATGCACTCACCGCTGGCCTTGGCAGCCTGCACGCACAGGTCCTCAGCCAAGTGGTCCCCAAAGGAGAAAGATAGGCGCTGGGGGGGCCCGGGGCCCCGAGCGGGCAGCAGCACATGCAGGGCACCAGCCTCCGTGGACAAGAGGCTGCATGAACGCTGAGGGATCAGGGGCGTCTCTTCACTTGGAGGTGCCATGAGTGCAACTTGCCTGGGGCACAGAGAGAAAAAGCCCCTCAGTCCTGGTCAGAGGGGATTGGACTTCTGAGCAGGGAGGGCATGGAAAGGAGTGCTGGAGGCCGGGTGCGGTGGCTTATGCCTGTAATCACAGCATTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCTGCCTGGCCAACATGGCGAAACCCTGCCTCTAAAAAGTGCAAAA
CAGGAGATCAACACCATCCTGGCTAACACCGTGAAACCCCGTCGCTACTGAAAATACAAAAAAATAGCCGGGCGTGGTGGCGAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGACCCTGGGAAGCAGAGGTTGCATTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAAAGAAAAAAGAAAATCAGCCGTAAGTCTTGGCCTCTTCTGGGAGATTGTTTGTTTGTTTGTTTGTTTTAATAGAGACAGGGTCTTGCTTGGTTGCCCAGGCTGGAGTGCAATCTCAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCGGAGTCGCTGGGACTACAGGTCAACCACCACACCCAGCTATTTTTTTTTCTTTTTTTGTAGAGATGGGGTCTCTCCTGTTGCCTAGACTTGTCTCCAACTCCTGAGTTCAAACAATCCTCCTGCCTTGGCCCCTCAAAGCGCTGCGATTGCAGGTGTGCCCCACTATGCCTGGCCCTTCCTGGGAGATTAAACAAGAGGCTGTAGGTGAAGGTGGGCGACTTGTCCATCTCCAGGAAATGGCCCTGGGGTCAGAGAGAGAGAGAGTAGTGGTCGCCCTGTGAAGCAGAAGGAATACTTCAGCTTCACTGAGCGCTGACTGTGCGGCAGGTGTGGTTTGAAAACTTGACCCCTGTCCAGGGCTCCTGGAAGGTGAGGACACTGAGGCATAGAGAAGGGGAGGGGCCCTGAGTGGCCACAGAGGCCGGGAATGGGGGACAGGTCCTTACGTGATGGGGCCGTGGCACTGCTCGGCCACTTCCTCCAGCAGCCTCGGCGGTGCCACCTCCTTGCAGAAGAAGTGCTGGGAGTCCGTGGTCAGCCGGAAGTAGCCGTCCACGAGCGCCACGAACGACAGAGCCTCGGGCAGCCCTGGGAACTCGGCCTCCTGCGAGGGACAAGCGTCAGAGCCCAGTGAAACCCGAGGGTGCCGGTCCCGCCCTCGGGGTAAGGCTGAAGGGGAGGGGAATCCTGCACCCACTAAAATCTGGTTGTCTGTCCTGGTAACAGTGACCAGGCGGTGCTCTCCGGCCGGGCCAACGCGCGGGGCCTGCTTGATGCTAATGTCTACGATTTCTGGAAAGTCGCAGAAGGGCTGGAGGACCTGGGAAGGAGGGGGAGTACCGAAGTGGGGGCCCAGCTGGACCCCGCCAAACCACGCCCATGAACCCACCCCCAAGCCACACCATCCACTCCCTATCCCTTTGCCATTCAACCCTTCCAAGCCGCGCCCCCTCCTATCAACTCCAACCTCTCAACACCTCCCCTACCCATCCCCAAACATCTCCCACCCGCTCTGCCAATCCCCGCCTCCTTCTCTCTGCCGGACCCCGCCCCTTGATCCCTGCCCCGCTTCGCAGCCTCCCAGCTCTCGGAGCCTCACTCTGCCTCTTAGTCTTGCCTCGTTCCAGCGCCCACCCACCCACTCCTCAACCCCTCCCATTTTCATTCCCGGGTCGCTCAGCCCAACCCTTCACTCAGTTTGCCCCTCCCATTCCCGCAGTCTCCTCCCTCACTAAGCCCCGCCCCTCATTAAGCCTCGCCCACTTCCCCAAGTCTTTCGTTTTGGCTCCGCCCCACATCCCCTACCACTCTCCGGCCCCTCCCCGAGCCCCGCCCCCACGTTGGCCCCGCCCAGCGGGGGAGTCCGCCCTCACCTCCTGTTCTCCCTGGGTCCAGGCGATGCCGCCGTCACCAGCCACGCGGAGCAGCCCCAGCCCGTCGTGGCCACCAAGGGCCCCAGGGAGGCCCACGTGGAAGGTCTCGGCGGCCCCGGCTGGATCCAGCCGCTCCAGGTCCATGATGTACTTGGCCATGAGCGAGTGCCGGTCTGCCTGGCAGGCGGCCACGCGGCGCAGGGCTCTGCGCACCGTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCAGGTCGCGCAGGCTTGGGGGTAGGTAGGCCTTGTAGCTGCAGGGGTTGGAGGGGAGGGAGCCGGCCCTCAGCGTCGGGAGGGGTCCCCGCGGGGACACACACAAACCCAGGCTTTAGCCCAGGGGCTGGGGTGCGGCCCTAGTTGGGGCACCAGGCACACACAGACTCTCATTCAGGGTCAGGTATGAGGACCGGACCTCAGAGTAGGGGAGGGCCATTGGCGCCCACAGGTCGGACAGGGACCCCACAGGCCTTTTAGCTGGGGGAGGTCAGGTGTCTGTCCAGCTGGAGCCTGGGGGTGGAGAGGGCTGGGTTCGTGGGAGGCCCTGGGTCATAGGAACACCCTGAAAGCTTGCAGGAGAACTCCATGGTGGGAGCCCGGCAAAGCCCCGATGGAGCCCACGTTGCTCACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCTCTCACCTGACAGTCTTCAGCAGCTCTCCCGGCCGCTGGGCCTGCTCTCGCGCCATCCGGGCCAGGTCCAACACGGCCAGGCTGAGACACTCACCCTGCTCCTTGAGACTGAGGCCCACGGGGAGGCGCCCACTCACCAGGTCACTGCGGTGCTGGGGGGCCGCCACAGGGAGCATCAGCTGAGGCCACCCAACTTCAAGCCCTGTTGTTAACCTGCAGACCCCCCCAATCCTGGGCTGACCCCCACCCCTGGACTGCCACAGGGAGGGTCAGACGAGGCCCCACCTGATTGCATGCCAGTCCTCATGTTGCCCCTTGGACCCCCAACCCCCTGGGTCAAACCCCAGGCAGAACCCCACCTGGGCAAAGAGGTGCTCCAGGACTGGCAGGTCAAGGATAGCACTGGCCAAATCCTTGCGTAGCCCGAAGCGGTGGCACTTCTCCAGCCCAAACCAATTGGGGAAGTAAAAGCTGTGAGGAGAGGAGAGAACCCTGGGATGAAAGTGCAACCCAGCCTCAGTAGGAGTGACATTATGGTGGGGGCGAGGGACAGATTCTGCGGAGGCCTCACAGAGCCCAGCTTGTACCTTTAACTTGCTGTGTGACCTTGGGCAAGTGACCCACCCTCTCTGGTCTGTTTCCTCATCTGAGAAATGGGTAGTGACCATACCTCCCTGGGGCAGGGGTGTGGGCACCTCGAAATGCAAGGAGATGATAAAATTGTACAATCCCTGGGGGCTGGGGGGCACTTCCTACCGAATCCTGTACAGCAGGACTTGGGTGCTGGCATCCTCCACGGAGAAGATGTGGCTCGGGGGGAACCAGCAGGACAGGTCCTCCGTGGCCAGAGCAAAGAGGGAGTGGTACACAGGCAGGATGCCTACAGGGGATGGTCCCATCAGCTCCCTCCTGAGTCACCCCATCTGTGCCCTTCAGGAGTGCCAGCATCATACCCAACCGTCCAGATCCTTCCATACCTCAAGGTATGACCAGCTGTTCCCTTCATGTGCCGTCACACCTCTCCGTCTGCACAGGCCATTCCCTCTGCCTCAGAAGCCAACCCTGCACACCCTTCTCCATTACAAAACTCCTACTCATCCCCCAAAGCCCCAGCTCCGATGCTGACTTCTGCAGGCAACTATTCCAGCTTCCAATCTTGGCCCCACACAGCCCCATCCTTCCCTCTGGCCCGATCCACTAGGGATGCACTCACCGCTGGCCTTGGCAGCCTGCACGCACAGGTCCTCAGCCAAGTGGTCCCCAAAGGAGAAAGATAGGCGCTGGGGGGGCCCGGGGCCCCGAGCGGGCAGCAGCACATGCAGGGCACCAGCCTCCGTGGACAAGAGGCTGCATGAACGCTGAGGGATCAGGGGCGTCTCTTCACTTGGAGGTGCCATGAGTGCAACTTGCCTGGGGCACAGAGAGAAAAAGCCCCTCAGTCCTGGTCAGAGGGGATTGGACTTCTGAGCAGGGAGGGCATGGAAAGGAGTGCTGGAGGCCGGGTGCGGTGGCTTATGCCTGTAATCACAGCATTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCTGCCTGGCCAACATGGCGAAACCCTGCCTCTAAAAAGTGCAAAA
Task1_train_26917
This variant affects gene JAK3 (Janus kinase 3) located on Chromosome 19. Evaluate its biological effect and specify any disease association.
Pathogenic; T-B+ severe combined immunodeficiency due to JAK3 deficiency
AACTCCTGAGTTCAAACAATCCTCCTGCCTTGGCCCCTCAAAGCGCTGCGATTGCAGGTGTGCCCCACTATGCCTGGCCCTTCCTGGGAGATTAAACAAGAGGCTGTAGGTGAAGGTGGGCGACTTGTCCATCTCCAGGAAATGGCCCTGGGGTCAGAGAGAGAGAGAGTAGTGGTCGCCCTGTGAAGCAGAAGGAATACTTCAGCTTCACTGAGCGCTGACTGTGCGGCAGGTGTGGTTTGAAAACTTGACCCCTGTCCAGGGCTCCTGGAAGGTGAGGACACTGAGGCATAGAGAAGGGGAGGGGCCCTGAGTGGCCACAGAGGCCGGGAATGGGGGACAGGTCCTTACGTGATGGGGCCGTGGCACTGCTCGGCCACTTCCTCCAGCAGCCTCGGCGGTGCCACCTCCTTGCAGAAGAAGTGCTGGGAGTCCGTGGTCAGCCGGAAGTAGCCGTCCACGAGCGCCACGAACGACAGAGCCTCGGGCAGCCCTGGGAACTCGGCCTCCTGCGAGGGACAAGCGTCAGAGCCCAGTGAAACCCGAGGGTGCCGGTCCCGCCCTCGGGGTAAGGCTGAAGGGGAGGGGAATCCTGCACCCACTAAAATCTGGTTGTCTGTCCTGGTAACAGTGACCAGGCGGTGCTCTCCGGCCGGGCCAACGCGCGGGGCCTGCTTGATGCTAATGTCTACGATTTCTGGAAAGTCGCAGAAGGGCTGGAGGACCTGGGAAGGAGGGGGAGTACCGAAGTGGGGGCCCAGCTGGACCCCGCCAAACCACGCCCATGAACCCACCCCCAAGCCACACCATCCACTCCCTATCCCTTTGCCATTCAACCCTTCCAAGCCGCGCCCCCTCCTATCAACTCCAACCTCTCAACACCTCCCCTACCCATCCCCAAACATCTCCCACCCGCTCTGCCAATCCCCGCCTCCTTCTCTCTGCCGGACCCCGCCCCTTGATCCCTGCCCCGCTTCGCAGCCTCCCAGCTCTCGGAGCCTCACTCTGCCTCTTAGTCTTGCCTCGTTCCAGCGCCCACCCACCCACTCCTCAACCCCTCCCATTTTCATTCCCGGGTCGCTCAGCCCAACCCTTCACTCAGTTTGCCCCTCCCATTCCCGCAGTCTCCTCCCTCACTAAGCCCCGCCCCTCATTAAGCCTCGCCCACTTCCCCAAGTCTTTCGTTTTGGCTCCGCCCCACATCCCCTACCACTCTCCGGCCCCTCCCCGAGCCCCGCCCCCACGTTGGCCCCGCCCAGCGGGGGAGTCCGCCCTCACCTCCTGTTCTCCCTGGGTCCAGGCGATGCCGCCGTCACCAGCCACGCGGAGCAGCCCCAGCCCGTCGTGGCCACCAAGGGCCCCAGGGAGGCCCACGTGGAAGGTCTCGGCGGCCCCGGCTGGATCCAGCCGCTCCAGGTCCATGATGTACTTGGCCATGAGCGAGTGCCGGTCTGCCTGGCAGGCGGCCACGCGGCGCAGGGCTCTGCGCACCGTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCAGGTCGCGCAGGCTTGGGGGTAGGCAGGCCTTGTAGCTGCAGGGGTTGGAGGGGAGGGAGCCGGCCCTCAGCGTCGGGAGGGGTCCCCGCGGGGACACACACAAACCCAGGCTTTAGCCCAGGGGCTGGGGTGCGGCCCTAGTTGGGGCACCAGGCACACACAGACTCTCATTCAGGGTCAGGTATGAGGACCGGACCTCAGAGTAGGGGAGGGCCATTGGCGCCCACAGGTCGGACAGGGACCCCACAGGCCTTTTAGCTGGGGGAGGTCAGGTGTCTGTCCAGCTGGAGCCTGGGGGTGGAGAGGGCTGGGTTCGTGGGAGGCCCTGGGTCATAGGAACACCCTGAAAGCTTGCAGGAGAACTCCATGGTGGGAGCCCGGCAAAGCCCCGATGGAGCCCACGTTGCTCACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCTCTCACCTGACAGTCTTCAGCAGCTCTCCCGGCCGCTGGGCCTGCTCTCGCGCCATCCGGGCCAGGTCCAACACGGCCAGGCTGAGACACTCACCCTGCTCCTTGAGACTGAGGCCCACGGGGAGGCGCCCACTCACCAGGTCACTGCGGTGCTGGGGGGCCGCCACAGGGAGCATCAGCTGAGGCCACCCAACTTCAAGCCCTGTTGTTAACCTGCAGACCCCCCCAATCCTGGGCTGACCCCCACCCCTGGACTGCCACAGGGAGGGTCAGACGAGGCCCCACCTGATTGCATGCCAGTCCTCATGTTGCCCCTTGGACCCCCAACCCCCTGGGTCAAACCCCAGGCAGAACCCCACCTGGGCAAAGAGGTGCTCCAGGACTGGCAGGTCAAGGATAGCACTGGCCAAATCCTTGCGTAGCCCGAAGCGGTGGCACTTCTCCAGCCCAAACCAATTGGGGAAGTAAAAGCTGTGAGGAGAGGAGAGAACCCTGGGATGAAAGTGCAACCCAGCCTCAGTAGGAGTGACATTATGGTGGGGGCGAGGGACAGATTCTGCGGAGGCCTCACAGAGCCCAGCTTGTACCTTTAACTTGCTGTGTGACCTTGGGCAAGTGACCCACCCTCTCTGGTCTGTTTCCTCATCTGAGAAATGGGTAGTGACCATACCTCCCTGGGGCAGGGGTGTGGGCACCTCGAAATGCAAGGAGATGATAAAATTGTACAATCCCTGGGGGCTGGGGGGCACTTCCTACCGAATCCTGTACAGCAGGACTTGGGTGCTGGCATCCTCCACGGAGAAGATGTGGCTCGGGGGGAACCAGCAGGACAGGTCCTCCGTGGCCAGAGCAAAGAGGGAGTGGTACACAGGCAGGATGCCTACAGGGGATGGTCCCATCAGCTCCCTCCTGAGTCACCCCATCTGTGCCCTTCAGGAGTGCCAGCATCATACCCAACCGTCCAGATCCTTCCATACCTCAAGGTATGACCAGCTGTTCCCTTCATGTGCCGTCACACCTCTCCGTCTGCACAGGCCATTCCCTCTGCCTCAGAAGCCAACCCTGCACACCCTTCTCCATTACAAAACTCCTACTCATCCCCCAAAGCCCCAGCTCCGATGCTGACTTCTGCAGGCAACTATTCCAGCTTCCAATCTTGGCCCCACACAGCCCCATCCTTCCCTCTGGCCCGATCCACTAGGGATGCACTCACCGCTGGCCTTGGCAGCCTGCACGCACAGGTCCTCAGCCAAGTGGTCCCCAAAGGAGAAAGATAGGCGCTGGGGGGGCCCGGGGCCCCGAGCGGGCAGCAGCACATGCAGGGCACCAGCCTCCGTGGACAAGAGGCTGCATGAACGCTGAGGGATCAGGGGCGTCTCTTCACTTGGAGGTGCCATGAGTGCAACTTGCCTGGGGCACAGAGAGAAAAAGCCCCTCAGTCCTGGTCAGAGGGGATTGGACTTCTGAGCAGGGAGGGCATGGAAAGGAGTGCTGGAGGCCGGGTGCGGTGGCTTATGCCTGTAATCACAGCATTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCTGCCTGGCCAACATGGCGAAACCCTGCCTCTAAAAAGTGCAAAACTTAGCCGGGTGTGGTGGTGCGTTCCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGACAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGACAACAGAGTCAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGCCTCCCTGGGATGGGCCCAGGAGGAAACTGGCCCCCTGCTTCCAGCCCCCAACACCTCCCACCCGCTCGCTCACTTGCCCTGAGAAACCTCAGCACTCAGGGCCCTCAGCTGGGTGGGGCCAGGGGTGGGGCTTCGAGTCCCCTGAGAAAAATTGGGGAGAAAAAGGAGGTCACTCAAATTGACCTGAATGAAGAAGATCTGAAGAAAGTGTTGGGAAAAACAAACAAAAACCTAAGTTCCAGCAGGGCGCAGTGGCTCATGTCTGTAATCCCATCATTTCCGGAGGCCAA
AACTCCTGAGTTCAAACAATCCTCCTGCCTTGGCCCCTCAAAGCGCTGCGATTGCAGGTGTGCCCCACTATGCCTGGCCCTTCCTGGGAGATTAAACAAGAGGCTGTAGGTGAAGGTGGGCGACTTGTCCATCTCCAGGAAATGGCCCTGGGGTCAGAGAGAGAGAGAGTAGTGGTCGCCCTGTGAAGCAGAAGGAATACTTCAGCTTCACTGAGCGCTGACTGTGCGGCAGGTGTGGTTTGAAAACTTGACCCCTGTCCAGGGCTCCTGGAAGGTGAGGACACTGAGGCATAGAGAAGGGGAGGGGCCCTGAGTGGCCACAGAGGCCGGGAATGGGGGACAGGTCCTTACGTGATGGGGCCGTGGCACTGCTCGGCCACTTCCTCCAGCAGCCTCGGCGGTGCCACCTCCTTGCAGAAGAAGTGCTGGGAGTCCGTGGTCAGCCGGAAGTAGCCGTCCACGAGCGCCACGAACGACAGAGCCTCGGGCAGCCCTGGGAACTCGGCCTCCTGCGAGGGACAAGCGTCAGAGCCCAGTGAAACCCGAGGGTGCCGGTCCCGCCCTCGGGGTAAGGCTGAAGGGGAGGGGAATCCTGCACCCACTAAAATCTGGTTGTCTGTCCTGGTAACAGTGACCAGGCGGTGCTCTCCGGCCGGGCCAACGCGCGGGGCCTGCTTGATGCTAATGTCTACGATTTCTGGAAAGTCGCAGAAGGGCTGGAGGACCTGGGAAGGAGGGGGAGTACCGAAGTGGGGGCCCAGCTGGACCCCGCCAAACCACGCCCATGAACCCACCCCCAAGCCACACCATCCACTCCCTATCCCTTTGCCATTCAACCCTTCCAAGCCGCGCCCCCTCCTATCAACTCCAACCTCTCAACACCTCCCCTACCCATCCCCAAACATCTCCCACCCGCTCTGCCAATCCCCGCCTCCTTCTCTCTGCCGGACCCCGCCCCTTGATCCCTGCCCCGCTTCGCAGCCTCCCAGCTCTCGGAGCCTCACTCTGCCTCTTAGTCTTGCCTCGTTCCAGCGCCCACCCACCCACTCCTCAACCCCTCCCATTTTCATTCCCGGGTCGCTCAGCCCAACCCTTCACTCAGTTTGCCCCTCCCATTCCCGCAGTCTCCTCCCTCACTAAGCCCCGCCCCTCATTAAGCCTCGCCCACTTCCCCAAGTCTTTCGTTTTGGCTCCGCCCCACATCCCCTACCACTCTCCGGCCCCTCCCCGAGCCCCGCCCCCACGTTGGCCCCGCCCAGCGGGGGAGTCCGCCCTCACCTCCTGTTCTCCCTGGGTCCAGGCGATGCCGCCGTCACCAGCCACGCGGAGCAGCCCCAGCCCGTCGTGGCCACCAAGGGCCCCAGGGAGGCCCACGTGGAAGGTCTCGGCGGCCCCGGCTGGATCCAGCCGCTCCAGGTCCATGATGTACTTGGCCATGAGCGAGTGCCGGTCTGCCTGGCAGGCGGCCACGCGGCGCAGGGCTCTGCGCACCGTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCAGGTCGCGCAGGCTTGGGGGTAGGCAGGCCTTGTAGCTGCAGGGGTTGGAGGGGAGGGAGCCGGCCCTCAGCGTCGGGAGGGGTCCCCGCGGGGACACACACAAACCCAGGCTTTAGCCCAGGGGCTGGGGTGCGGCCCTAGTTGGGGCACCAGGCACACACAGACTCTCATTCAGGGTCAGGTATGAGGACCGGACCTCAGAGTAGGGGAGGGCCATTGGCGCCCACAGGTCGGACAGGGACCCCACAGGCCTTTTAGCTGGGGGAGGTCAGGTGTCTGTCCAGCTGGAGCCTGGGGGTGGAGAGGGCTGGGTTCGTGGGAGGCCCTGGGTCATAGGAACACCCTGAAAGCTTGCAGGAGAACTCCATGGTGGGAGCCCGGCAAAGCCCCGATGGAGCCCACGTTGCTCACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCTCTCACCTGACAGTCTTCAGCAGCTCTCCCGGCCGCTGGGCCTGCTCTCGCGCCATCCGGGCCAGTTCCAACACGGCCAGGCTGAGACACTCACCCTGCTCCTTGAGACTGAGGCCCACGGGGAGGCGCCCACTCACCAGGTCACTGCGGTGCTGGGGGGCCGCCACAGGGAGCATCAGCTGAGGCCACCCAACTTCAAGCCCTGTTGTTAACCTGCAGACCCCCCCAATCCTGGGCTGACCCCCACCCCTGGACTGCCACAGGGAGGGTCAGACGAGGCCCCACCTGATTGCATGCCAGTCCTCATGTTGCCCCTTGGACCCCCAACCCCCTGGGTCAAACCCCAGGCAGAACCCCACCTGGGCAAAGAGGTGCTCCAGGACTGGCAGGTCAAGGATAGCACTGGCCAAATCCTTGCGTAGCCCGAAGCGGTGGCACTTCTCCAGCCCAAACCAATTGGGGAAGTAAAAGCTGTGAGGAGAGGAGAGAACCCTGGGATGAAAGTGCAACCCAGCCTCAGTAGGAGTGACATTATGGTGGGGGCGAGGGACAGATTCTGCGGAGGCCTCACAGAGCCCAGCTTGTACCTTTAACTTGCTGTGTGACCTTGGGCAAGTGACCCACCCTCTCTGGTCTGTTTCCTCATCTGAGAAATGGGTAGTGACCATACCTCCCTGGGGCAGGGGTGTGGGCACCTCGAAATGCAAGGAGATGATAAAATTGTACAATCCCTGGGGGCTGGGGGGCACTTCCTACCGAATCCTGTACAGCAGGACTTGGGTGCTGGCATCCTCCACGGAGAAGATGTGGCTCGGGGGGAACCAGCAGGACAGGTCCTCCGTGGCCAGAGCAAAGAGGGAGTGGTACACAGGCAGGATGCCTACAGGGGATGGTCCCATCAGCTCCCTCCTGAGTCACCCCATCTGTGCCCTTCAGGAGTGCCAGCATCATACCCAACCGTCCAGATCCTTCCATACCTCAAGGTATGACCAGCTGTTCCCTTCATGTGCCGTCACACCTCTCCGTCTGCACAGGCCATTCCCTCTGCCTCAGAAGCCAACCCTGCACACCCTTCTCCATTACAAAACTCCTACTCATCCCCCAAAGCCCCAGCTCCGATGCTGACTTCTGCAGGCAACTATTCCAGCTTCCAATCTTGGCCCCACACAGCCCCATCCTTCCCTCTGGCCCGATCCACTAGGGATGCACTCACCGCTGGCCTTGGCAGCCTGCACGCACAGGTCCTCAGCCAAGTGGTCCCCAAAGGAGAAAGATAGGCGCTGGGGGGGCCCGGGGCCCCGAGCGGGCAGCAGCACATGCAGGGCACCAGCCTCCGTGGACAAGAGGCTGCATGAACGCTGAGGGATCAGGGGCGTCTCTTCACTTGGAGGTGCCATGAGTGCAACTTGCCTGGGGCACAGAGAGAAAAAGCCCCTCAGTCCTGGTCAGAGGGGATTGGACTTCTGAGCAGGGAGGGCATGGAAAGGAGTGCTGGAGGCCGGGTGCGGTGGCTTATGCCTGTAATCACAGCATTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCTGCCTGGCCAACATGGCGAAACCCTGCCTCTAAAAAGTGCAAAACTTAGCCGGGTGTGGTGGTGCGTTCCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGACAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGACAACAGAGTCAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGCCTCCCTGGGATGGGCCCAGGAGGAAACTGGCCCCCTGCTTCCAGCCCCCAACACCTCCCACCCGCTCGCTCACTTGCCCTGAGAAACCTCAGCACTCAGGGCCCTCAGCTGGGTGGGGCCAGGGGTGGGGCTTCGAGTCCCCTGAGAAAAATTGGGGAGAAAAAGGAGGTCACTCAAATTGACCTGAATGAAGAAGATCTGAAGAAAGTGTTGGGAAAAACAAACAAAAACCTAAGTTCCAGCAGGGCGCAGTGGCTCATGTCTGTAATCCCATCATTTCCGGAGGCCAA
Task1_train_26918
An alteration has been detected in JAK3 (Janus kinase 3) on Chromosome 19. Is it pathogenic, and if so, what disease is involved?
Pathogenic; T-B+ severe combined immunodeficiency due to JAK3 deficiency
GAAAGTCGCAGAAGGGCTGGAGGACCTGGGAAGGAGGGGGAGTACCGAAGTGGGGGCCCAGCTGGACCCCGCCAAACCACGCCCATGAACCCACCCCCAAGCCACACCATCCACTCCCTATCCCTTTGCCATTCAACCCTTCCAAGCCGCGCCCCCTCCTATCAACTCCAACCTCTCAACACCTCCCCTACCCATCCCCAAACATCTCCCACCCGCTCTGCCAATCCCCGCCTCCTTCTCTCTGCCGGACCCCGCCCCTTGATCCCTGCCCCGCTTCGCAGCCTCCCAGCTCTCGGAGCCTCACTCTGCCTCTTAGTCTTGCCTCGTTCCAGCGCCCACCCACCCACTCCTCAACCCCTCCCATTTTCATTCCCGGGTCGCTCAGCCCAACCCTTCACTCAGTTTGCCCCTCCCATTCCCGCAGTCTCCTCCCTCACTAAGCCCCGCCCCTCATTAAGCCTCGCCCACTTCCCCAAGTCTTTCGTTTTGGCTCCGCCCCACATCCCCTACCACTCTCCGGCCCCTCCCCGAGCCCCGCCCCCACGTTGGCCCCGCCCAGCGGGGGAGTCCGCCCTCACCTCCTGTTCTCCCTGGGTCCAGGCGATGCCGCCGTCACCAGCCACGCGGAGCAGCCCCAGCCCGTCGTGGCCACCAAGGGCCCCAGGGAGGCCCACGTGGAAGGTCTCGGCGGCCCCGGCTGGATCCAGCCGCTCCAGGTCCATGATGTACTTGGCCATGAGCGAGTGCCGGTCTGCCTGGCAGGCGGCCACGCGGCGCAGGGCTCTGCGCACCGTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCAGGTCGCGCAGGCTTGGGGGTAGGCAGGCCTTGTAGCTGCAGGGGTTGGAGGGGAGGGAGCCGGCCCTCAGCGTCGGGAGGGGTCCCCGCGGGGACACACACAAACCCAGGCTTTAGCCCAGGGGCTGGGGTGCGGCCCTAGTTGGGGCACCAGGCACACACAGACTCTCATTCAGGGTCAGGTATGAGGACCGGACCTCAGAGTAGGGGAGGGCCATTGGCGCCCACAGGTCGGACAGGGACCCCACAGGCCTTTTAGCTGGGGGAGGTCAGGTGTCTGTCCAGCTGGAGCCTGGGGGTGGAGAGGGCTGGGTTCGTGGGAGGCCCTGGGTCATAGGAACACCCTGAAAGCTTGCAGGAGAACTCCATGGTGGGAGCCCGGCAAAGCCCCGATGGAGCCCACGTTGCTCACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCTCTCACCTGACAGTCTTCAGCAGCTCTCCCGGCCGCTGGGCCTGCTCTCGCGCCATCCGGGCCAGGTCCAACACGGCCAGGCTGAGACACTCACCCTGCTCCTTGAGACTGAGGCCCACGGGGAGGCGCCCACTCACCAGGTCACTGCGGTGCTGGGGGGCCGCCACAGGGAGCATCAGCTGAGGCCACCCAACTTCAAGCCCTGTTGTTAACCTGCAGACCCCCCCAATCCTGGGCTGACCCCCACCCCTGGACTGCCACAGGGAGGGTCAGACGAGGCCCCACCTGATTGCATGCCAGTCCTCATGTTGCCCCTTGGACCCCCAACCCCCTGGGTCAAACCCCAGGCAGAACCCCACCTGGGCAAAGAGGTGCTCCAGGACTGGCAGGTCAAGGATAGCACTGGCCAAATCCTTGCGTAGCCCGAAGCGGTGGCACTTCTCCAGCCCAAACCAATTGGGGAAGTAAAAGCTGTGAGGAGAGGAGAGAACCCTGGGATGAAAGTGCAACCCAGCCTCAGTAGGAGTGACATTATGGTGGGGGCGAGGGACAGATTCTGCGGAGGCCTCACAGAGCCCAGCTTGTACCTTTAACTTGCTGTGTGACCTTGGGCAAGTGACCCACCCTCTCTGGTCTGTTTCCTCATCTGAGAAATGGGTAGTGACCATACCTCCCTGGGGCAGGGGTGTGGGCACCTCGAAATGCAAGGAGATGATAAAATTGTACAATCCCTGGGGGCTGGGGGGCACTTCCTACCGAATCCTGTACAGCAGGACTTGGGTGCTGGCATCCTCCACGGAGAAGATGTGGCTCGGGGGGAACCAGCAGGACAGGTCCTCCGTGGCCAGAGCAAAGAGGGAGTGGTACACAGGCAGGATGCCTACAGGGGATGGTCCCATCAGCTCCCTCCTGAGTCACCCCATCTGTGCCCTTCAGGAGTGCCAGCATCATACCCAACCGTCCAGATCCTTCCATACCTCAAGGTATGACCAGCTGTTCCCTTCATGTGCCGTCACACCTCTCCGTCTGCACAGGCCATTCCCTCTGCCTCAGAAGCCAACCCTGCACACCCTTCTCCATTACAAAACTCCTACTCATCCCCCAAAGCCCCAGCTCCGATGCTGACTTCTGCAGGCAACTATTCCAGCTTCCAATCTTGGCCCCACACAGCCCCATCCTTCCCTCTGGCCCGATCCACTAGGGATGCACTCACCGCTGGCCTTGGCAGCCTGCACGCACAGGTCCTCAGCCAAGTGGTCCCCAAAGGAGAAAGATAGGCGCTGGGGGGGCCCGGGGCCCCGAGCGGGCAGCAGCACATGCAGGGCACCAGCCTCCGTGGACAAGAGGCTGCATGAACGCTGAGGGATCAGGGGCGTCTCTTCACTTGGAGGTGCCATGAGTGCAACTTGCCTGGGGCACAGAGAGAAAAAGCCCCTCAGTCCTGGTCAGAGGGGATTGGACTTCTGAGCAGGGAGGGCATGGAAAGGAGTGCTGGAGGCCGGGTGCGGTGGCTTATGCCTGTAATCACAGCATTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCTGCCTGGCCAACATGGCGAAACCCTGCCTCTAAAAAGTGCAAAACTTAGCCGGGTGTGGTGGTGCGTTCCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGACAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGACAACAGAGTCAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGCCTCCCTGGGATGGGCCCAGGAGGAAACTGGCCCCCTGCTTCCAGCCCCCAACACCTCCCACCCGCTCGCTCACTTGCCCTGAGAAACCTCAGCACTCAGGGCCCTCAGCTGGGTGGGGCCAGGGGTGGGGCTTCGAGTCCCCTGAGAAAAATTGGGGAGAAAAAGGAGGTCACTCAAATTGACCTGAATGAAGAAGATCTGAAGAAAGTGTTGGGAAAAACAAACAAAAACCTAAGTTCCAGCAGGGCGCAGTGGCTCATGTCTGTAATCCCATCATTTCCGGAGGCCAAGAAGGAAGGATAGCTTGAGACCAGGAGTTTGTTTTATGTTTTTTGCTTTTTTGAGACAGAGTCTCGCGCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGAGATTCTCGTGCCTCAGCCACCCCAGTAGCTGGGATTACAGGTGGGCACCACCACGCCCAGCTAATTTTCTTGTATTTTTAGTAGAGATGGGGTTTCACTGATCTCAAACTCCTGGCCTCAAGTGATCAGCCTGCCTCAGCCTCCCAAAATGCTGGATTACATGTGTGAGCCACCGCGCCTGGCCGAGACCAGGAGTTTGAAACCAGACTGGGCAATATAGTGAGACCTCCTCTCAAAAAGAAAAAAAAGCCTTGTAATCCCAGCACTTTGACAGGCCGAGGCAGGTGGATCACTTGAGGCTAGGATTTTGAGACCTCATCTCTAAAAAATTAGCAGGGCATGGTGGCACACCCCCATAGTCCTAGCTACTTGGGAGGCTGAGACAGGAGGATGCCTTCAGCTCTGCAAGTTGAGGCTGCATTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTATCTCTAGAAAAAAAACACAATACAAAAACTATGATCCAAAATAATGCCCTGTGGCTGGGGTGGGGCGGCATTAATGAGGGTTTTTTTGT
GAAAGTCGCAGAAGGGCTGGAGGACCTGGGAAGGAGGGGGAGTACCGAAGTGGGGGCCCAGCTGGACCCCGCCAAACCACGCCCATGAACCCACCCCCAAGCCACACCATCCACTCCCTATCCCTTTGCCATTCAACCCTTCCAAGCCGCGCCCCCTCCTATCAACTCCAACCTCTCAACACCTCCCCTACCCATCCCCAAACATCTCCCACCCGCTCTGCCAATCCCCGCCTCCTTCTCTCTGCCGGACCCCGCCCCTTGATCCCTGCCCCGCTTCGCAGCCTCCCAGCTCTCGGAGCCTCACTCTGCCTCTTAGTCTTGCCTCGTTCCAGCGCCCACCCACCCACTCCTCAACCCCTCCCATTTTCATTCCCGGGTCGCTCAGCCCAACCCTTCACTCAGTTTGCCCCTCCCATTCCCGCAGTCTCCTCCCTCACTAAGCCCCGCCCCTCATTAAGCCTCGCCCACTTCCCCAAGTCTTTCGTTTTGGCTCCGCCCCACATCCCCTACCACTCTCCGGCCCCTCCCCGAGCCCCGCCCCCACGTTGGCCCCGCCCAGCGGGGGAGTCCGCCCTCACCTCCTGTTCTCCCTGGGTCCAGGCGATGCCGCCGTCACCAGCCACGCGGAGCAGCCCCAGCCCGTCGTGGCCACCAAGGGCCCCAGGGAGGCCCACGTGGAAGGTCTCGGCGGCCCCGGCTGGATCCAGCCGCTCCAGGTCCATGATGTACTTGGCCATGAGCGAGTGCCGGTCTGCCTGGCAGGCGGCCACGCGGCGCAGGGCTCTGCGCACCGTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCAGGTCGCGCAGGCTTGGGGGTAGGCAGGCCTTGTAGCTGCAGGGGTTGGAGGGGAGGGAGCCGGCCCTCAGCGTCGGGAGGGGTCCCCGCGGGGACACACACAAACCCAGGCTTTAGCCCAGGGGCTGGGGTGCGGCCCTAGTTGGGGCACCAGGCACACACAGACTCTCATTCAGGGTCAGGTATGAGGACCGGACCTCAGAGTAGGGGAGGGCCATTGGCGCCCACAGGTCGGACAGGGACCCCACAGGCCTTTTAGCTGGGGGAGGTCAGGTGTCTGTCCAGCTGGAGCCTGGGGGTGGAGAGGGCTGGGTTCGTGGGAGGCCCTGGGTCATAGGAACACCCTGAAAGCTTGCAGGAGAACTCCATGGTGGGAGCCCGGCAAAGCCCCGATGGAGCCCACGTTGCTCACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCTCTCACCTGACAGTCTTCAGCAGCTCTCCCGGCCGCTGGGCCTGCTCTCGCGCCATCCGGGCCAGGTCCAACACGGCCAGGCTGAGACACTCACCCTGCTCCTTGAGACTGAGGCCCACGGGGAGGCGCCCACTCACCAGGTCACTGCGGTGCTGGGGGGCCGCCACAGGGAGCATCAGCTGAGGCCACCCAACTTCAAGCCCTGTTGTTAACCTGCAGACCCCCCCAATCCTGGGCTGACCCCCACCCCTGGACTGCCACAGGGAGGGTCAGACGAGGCCCCACCTGATTGCATGCCAGTCCTCATGTTGCCCCTTGGACCCCCAACCCCCTGGGTCAAACCCCAGGCAGAACCCCACCTGGGCAAAGAGGTGCTCCAGGACTGGCAGGTCAAGGATAGCACTGGCCAAATCCTTGCGTAGCCCGAAGCGGTGGCACTTCTCCAGCCCAAACCAATTGGGGAAGTAAAAGCTGTGAGGAGAGGAGAGAACCCTGGGATGAAAGTGCAACCCAGCCTCAGTAGGAGTGACATTATGGTGGGGGCGAGGGACAGATTCTGCGGAGGCCTCACAGAGCCCAGCTTGTACCTTTAACTTGCTGTGTGACCTTGGGCAAGTGACCCACCCTCTCTGGTCTGTTTCCTCATCTGAGAAATGGGTAGTGACCATACCTCCCTGGGGCAGGGGTGTGGGCACCTCGAAATGCAAGGAGATGATAAAATTGTACAATCCCTGGGGGCTGGGGGGCACTTCCTACCGAATCCTGCACAGCAGGACTTGGGTGCTGGCATCCTCCACGGAGAAGATGTGGCTCGGGGGGAACCAGCAGGACAGGTCCTCCGTGGCCAGAGCAAAGAGGGAGTGGTACACAGGCAGGATGCCTACAGGGGATGGTCCCATCAGCTCCCTCCTGAGTCACCCCATCTGTGCCCTTCAGGAGTGCCAGCATCATACCCAACCGTCCAGATCCTTCCATACCTCAAGGTATGACCAGCTGTTCCCTTCATGTGCCGTCACACCTCTCCGTCTGCACAGGCCATTCCCTCTGCCTCAGAAGCCAACCCTGCACACCCTTCTCCATTACAAAACTCCTACTCATCCCCCAAAGCCCCAGCTCCGATGCTGACTTCTGCAGGCAACTATTCCAGCTTCCAATCTTGGCCCCACACAGCCCCATCCTTCCCTCTGGCCCGATCCACTAGGGATGCACTCACCGCTGGCCTTGGCAGCCTGCACGCACAGGTCCTCAGCCAAGTGGTCCCCAAAGGAGAAAGATAGGCGCTGGGGGGGCCCGGGGCCCCGAGCGGGCAGCAGCACATGCAGGGCACCAGCCTCCGTGGACAAGAGGCTGCATGAACGCTGAGGGATCAGGGGCGTCTCTTCACTTGGAGGTGCCATGAGTGCAACTTGCCTGGGGCACAGAGAGAAAAAGCCCCTCAGTCCTGGTCAGAGGGGATTGGACTTCTGAGCAGGGAGGGCATGGAAAGGAGTGCTGGAGGCCGGGTGCGGTGGCTTATGCCTGTAATCACAGCATTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCTGCCTGGCCAACATGGCGAAACCCTGCCTCTAAAAAGTGCAAAACTTAGCCGGGTGTGGTGGTGCGTTCCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGACAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGACAACAGAGTCAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGCCTCCCTGGGATGGGCCCAGGAGGAAACTGGCCCCCTGCTTCCAGCCCCCAACACCTCCCACCCGCTCGCTCACTTGCCCTGAGAAACCTCAGCACTCAGGGCCCTCAGCTGGGTGGGGCCAGGGGTGGGGCTTCGAGTCCCCTGAGAAAAATTGGGGAGAAAAAGGAGGTCACTCAAATTGACCTGAATGAAGAAGATCTGAAGAAAGTGTTGGGAAAAACAAACAAAAACCTAAGTTCCAGCAGGGCGCAGTGGCTCATGTCTGTAATCCCATCATTTCCGGAGGCCAAGAAGGAAGGATAGCTTGAGACCAGGAGTTTGTTTTATGTTTTTTGCTTTTTTGAGACAGAGTCTCGCGCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGAGATTCTCGTGCCTCAGCCACCCCAGTAGCTGGGATTACAGGTGGGCACCACCACGCCCAGCTAATTTTCTTGTATTTTTAGTAGAGATGGGGTTTCACTGATCTCAAACTCCTGGCCTCAAGTGATCAGCCTGCCTCAGCCTCCCAAAATGCTGGATTACATGTGTGAGCCACCGCGCCTGGCCGAGACCAGGAGTTTGAAACCAGACTGGGCAATATAGTGAGACCTCCTCTCAAAAAGAAAAAAAAGCCTTGTAATCCCAGCACTTTGACAGGCCGAGGCAGGTGGATCACTTGAGGCTAGGATTTTGAGACCTCATCTCTAAAAAATTAGCAGGGCATGGTGGCACACCCCCATAGTCCTAGCTACTTGGGAGGCTGAGACAGGAGGATGCCTTCAGCTCTGCAAGTTGAGGCTGCATTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTATCTCTAGAAAAAAAACACAATACAAAAACTATGATCCAAAATAATGCCCTGTGGCTGGGGTGGGGCGGCATTAATGAGGGTTTTTTTGT
Task1_train_26919
Gene SLC5A5 (solute carrier family 5 member 5) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Thyroid dyshormonogenesis 1
GGCTGGAGTGCTGTGCAGTTCTCGACCACAGCTCATTGCAGCCTCGAACTTCCACGCTCAAGCGATCCTCCCACTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTCGCTAATATTTGTATTTTTCATACAGACAAGATCTCACTATGTTGCTCAGGGTAGTCTCGAATTCTGGGACTCAAATGATCCTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATCATGCCCGGCCTCTGACGCTGTTTCTTTCAACCCCCAGGATTTCAGATTCCACCAGCTTATGGAGAAGGGAACCAAGTTTGAGATGCGTGATTGCCCAGAAAGTTGGAGGCTGAGCTGAGACTTGAACCCAGAGACCAGAACCTCCAGAGGTCAAAGTCCTCCTGGGTCCCCCAGAGAAGGGCCCTGAGATGACAGCTCGTTGGTCCTCATGGAAGCGTGACCCCCCCAGTAGACTTTCTCCCACACCCAACCTTGGTTTCCTCATCTATATGATAGGGACAAGCCAGACTCTACCTCCCTGGTGGTCATGGTCTCCGCTTATTCGGGTTCATAACCTTAAAGGCCCCTCGCACCACCTCAGTGAGCCATTTATGCCTGGCACAGGGCCAACTCTCAGTGCATATCTGCAAAGGAACCAATGAATGAATGAATGAAGTGACAAATGAATAAAGGAATAAATGAATGAGGCACTTATCATGTACCAGGCTTTCGTTACCACGTCCCATTTATTCCTCTGAGGCAGGGTCTATTTTATCCTTGTTACAGATGGGGAAACTAAGGCCCAGGGAGGAGCAAAGTCTTCCCCAAGTATGTACCCACTCAGAACTTGAGCTCTGAATGTCTCCCACCCAGCTTAGCCCAAGAGCGGGGTTCAGTGATGCCCACCCCCTAAGGCTCTAGAGAAAGGGGGTAGGCCCACATGCCAGTTTGGGGGTGGTAAAGCCAGGTAAGTTTTCTTTATGGGTCCCCTGAAACCCTGAAAGTGAACCCCAGTCCTGCATGAAAGTGAGCTCCCCATAGCTCAAGGTATTCAAGCACAATACGGCTTTGAGTGCTGAAGCAGGCTGTGCAGGCTTGGATAGTGACATGCCCTCTCTGAGCCTCAATTTCCCCACCTGTCAACAGCAGACAGTGACAGCTGTGATCAGGGGATCACAGTGCATGGGGATGGGTGGGTGCATGGGGATGGAGGGGCATTTGGGAGCCCTCCCCGATACCACCCCCTGCAGCCACCCAGATAGCCTGTCCTGGCCTGTCTGTCCCAGTCCAGGGCTGAAAGGGTGCGGGTCCTGCCCGCCCCTAGGTCTGGAGGCGGAGTCGCGGTGACCCGGGAGCCCAATAAATCTGCAACCCACAATCACGAGCTGCTCCCGTAAGCCCCAAGGCGACCTCCAGCTGTCAGCGCTGAGCACAGCGCCCAGGGAGAGGGACAGACAGCCGGCTGCATGGGACAGCGGAACCCAGAGTGAGAGGGGAGGTGGCAGGACAGACAGACAGCAGGGGCGGACGCAGAGACAGACAGCGGGGACAGGGAGGCCGACACGGACATCGACAGCCCATAGATTCCTAACCCAGGGAGCCCCGGCCCCTCTCGCCGCTTCCCACCCCAGACGGAGCGGGGACAGGCTGCCGAGCATCCTCCCACCCGCCCTCCCCGTCCTGCCTCCTCGGCCCCTGCCAGCTTCCCCCGCTTGAGCACGCAGGGCGTCCGAGGACGCGCTGGGCCTCCGCACCCGCCCTCATGGAGGCCGTGGAGACCGGGGAACGGCCCACCTTCGGAGCCTGGGACTACGGGGTCTTTGCCCTCATGCTCCTGGTGTCCACTGGCATCGGGCTGTGGGTCGGGCTGGCTCGGGGCGGGCAGCGCAGCGCTGAGGACTTCTTCACCGGGGGCCGGCGCCTGGCGGCCCTGCCCGTGGGCCTGTCGCTGTCTGCCAGCTTCATGTCGGCCGTGCAGGTGCTGGGCGTGCCGTCGGAGGCCTATCGCTATGGCCTCAAGTTCCTCTGGATGTGCCTGGGCCAGCTTCTGAACTCGGTCCTCACCGCCCTGCTCTTCATGCCCGTCTTCTACCGCCTGGGCCTCACCAGCACCTACGAGGTACCGGACAGAGGCCCGGGGGTAGGACCTGCCCCACTGGCAGTGCTGGGACCCCGTGTGGGGGAGGCGCTGGGGCTTTGGGCCGCTGTACAGGAGGACGCGGATGGCACCTCGGTGCTTTAACGGAAGGGGCCCCTAGGCAGACACGTGGGGAGGGTTCTAGGAAGAGGCCCCAGGCGCCCGGCGAGGGGCAGGAAGGAGGAAGAGAGAGCCTGGCGTCCTGCTCCTTCGGTGGAAGCGCGCGCGGGGCGGGGCCCGGCTCGACCAGGTGTGTCCTCACGGGTGGACACACACCTGCCCCCCACCTGCCCGGGCGTGCAGACCCACGTGTGCGCGCTAGAGGGGACTGCTGACGGCTCCGGGGTTCGAAACCTGGCTTCACTGCTTTCTTGTATCTTGGGCAAGGGGCGTGCCTCTCTGTTTGGGTTTCCCAGCTGTCCAATGGGCGAATTACAGGACCTCCCTCCAGGGGAGAGGGTAAAGCGATTAAAATCGTGACCGGGGCCCGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCATGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGATGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTAAGACAGGAGAATTGCTTGAACCCGGGAGGTTGCAGTGAGCCGATATCGCGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTTGTCTCAAAGGAAAAAAAAATATTGTGGCAGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTTTACTAAAAATACAAAAATTAGCCGGGCATGGTCGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCAGTGCACCCTAGCCTGGGCGACAGAGCGAGACTCCGTCCCCCCTCCCCCCCAAAAAAATCGTGACAGGTATATCCTAGGCGGCCAACACCATTGGCCCGGGGCACTGTCTACACTGTGCGCTTGCGGGCCACGTCGGTGTCTGCTGAGCGGTGGCTGCTCCAGGAGCCCGCGCCCGTCAGGCGCAAGTGGGAGGGCGCGTGCACACGCATGGACCAGTCCTCCAGGTCCACGGGGTACGCACAGGCACGGGATGGCACCTGTGCACGGGTGTGTGCGTGCGGCGGGGCCCCCACGTGCAAGAATCTGGCGGGCGCGGTTGGCTTCCGGAGGGAGGGGCCCACCTAGAGAGCAGACCAGGGACCCGAGAGGCCTCGGCTCCTGGGTAAGGACTGTCCAGGTGACCTCGAGTCCCTCCTTGCAGTACCTGGAGATGCGCTTCAGCCGCGCAGTGCGGCTCTGCGGGACTTTGCAGTACATTGTAGCCACGGTGAGTGGCCTCGGCCCCGCCCTCCGCTCAGGGCCCCGAGAGCGTCAGCCTTCACTAGCCCGGCCCCCACCATTCAAGACCCCGCCCAGACCCCGCCCCCCATGCTCCCGTTCTGACCCCGCCCCCATCAGTCCCCTCCCACACCACAGCCGGCCTGACCCCGCCTGCACTCTGGAAGACCCGGCCTATCTGCCCCGCCCATATTCTGGGACCACCCTTCTGCCTCCTCTCCCCATCCCCAACTCGCCCAGACGCCCTCCCTGCTCACCCGCCCCACACTCTGTCTACAGATGCTGTACACCGGCATCGTAATCTACGCACCGGCCCTCATCCTGAACCAAGGTGTGACTCTGGGAGATTAGGGAAGCATGTCTGGGAAGAGAAAGGGAGGGAGAGGAGAACCCAAGACTAAGTTTGCGCCCCGCCCAGGGGCCTAACAG
GGCTGGAGTGCTGTGCAGTTCTCGACCACAGCTCATTGCAGCCTCGAACTTCCACGCTCAAGCGATCCTCCCACTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTCGCTAATATTTGTATTTTTCATACAGACAAGATCTCACTATGTTGCTCAGGGTAGTCTCGAATTCTGGGACTCAAATGATCCTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATCATGCCCGGCCTCTGACGCTGTTTCTTTCAACCCCCAGGATTTCAGATTCCACCAGCTTATGGAGAAGGGAACCAAGTTTGAGATGCGTGATTGCCCAGAAAGTTGGAGGCTGAGCTGAGACTTGAACCCAGAGACCAGAACCTCCAGAGGTCAAAGTCCTCCTGGGTCCCCCAGAGAAGGGCCCTGAGATGACAGCTCGTTGGTCCTCATGGAAGCGTGACCCCCCCAGTAGACTTTCTCCCACACCCAACCTTGGTTTCCTCATCTATATGATAGGGACAAGCCAGACTCTACCTCCCTGGTGGTCATGGTCTCCGCTTATTCGGGTTCATAACCTTAAAGGCCCCTCGCACCACCTCAGTGAGCCATTTATGCCTGGCACAGGGCCAACTCTCAGTGCATATCTGCAAAGGAACCAATGAATGAATGAATGAAGTGACAAATGAATAAAGGAATAAATGAATGAGGCACTTATCATGTACCAGGCTTTCGTTACCACGTCCCATTTATTCCTCTGAGGCAGGGTCTATTTTATCCTTGTTACAGATGGGGAAACTAAGGCCCAGGGAGGAGCAAAGTCTTCCCCAAGTATGTACCCACTCAGAACTTGAGCTCTGAATGTCTCCCACCCAGCTTAGCCCAAGAGCGGGGTTCAGTGATGCCCACCCCCTAAGGCTCTAGAGAAAGGGGGTAGGCCCACATGCCAGTTTGGGGGTGGTAAAGCCAGGTAAGTTTTCTTTATGGGTCCCCTGAAACCCTGAAAGTGAACCCCAGTCCTGCATGAAAGTGAGCTCCCCATAGCTCAAGGTATTCAAGCACAATACGGCTTTGAGTGCTGAAGCAGGCTGTGCAGGCTTGGATAGTGACATGCCCTCTCTGAGCCTCAATTTCCCCACCTGTCAACAGCAGACAGTGACAGCTGTGATCAGGGGATCACAGTGCATGGGGATGGGTGGGTGCATGGGGATGGAGGGGCATTTGGGAGCCCTCCCCGATACCACCCCCTGCAGCCACCCAGATAGCCTGTCCTGGCCTGTCTGTCCCAGTCCAGGGCTGAAAGGGTGCGGGTCCTGCCCGCCCCTAGGTCTGGAGGCGGAGTCGCGGTGACCCGGGAGCCCAATAAATCTGCAACCCACAATCACGAGCTGCTCCCGTAAGCCCCAAGGCGACCTCCAGCTGTCAGCGCTGAGCACAGCGCCCAGGGAGAGGGACAGACAGCCGGCTGCATGGGACAGCGGAACCCAGAGTGAGAGGGGAGGTGGCAGGACAGACAGACAGCAGGGGCGGACGCAGAGACAGACAGCGGGGACAGGGAGGCCGACACGGACATCGACAGCCCATAGATTCCTAACCCAGGGAGCCCCGGCCCCTCTCGCCGCTTCCCACCCCAGACGGAGCGGGGACAGGCTGCCGAGCATCCTCCCACCCGCCCTCCCCGTCCTGCCTCCTCGGCCCCTGCCAGCTTCCCCCGCTTGAGCACGCAGGGCGTCCGAGGACGCGCTGGGCCTCCGCACCCGCCCTCATGGAGGCCGTGGAGACCGGGGAACGGCCCACCTTCGGAGCCTGGGACTACGGGGTCTTTGCCCTCATGCTCCTGGTGTCCACTGGCATCGGGCTGTGGGTCGGGCTGGCTCGGGGCGGGCAGCGCAGCGCTGAGGACTTCTTCACCGGGGGCCGGCGCCTGGCGGCCCTGCCCGTGGGCCTGTCGCTGTCTGCCAGCTTCATGTCGGCCGTGCAGGTGCTGGGCGTGCCGTCGGAGGCCTATCGCTATGGCCTCAAGTTCCTCTGGATGTGCCTGCGCCAGCTTCTGAACTCGGTCCTCACCGCCCTGCTCTTCATGCCCGTCTTCTACCGCCTGGGCCTCACCAGCACCTACGAGGTACCGGACAGAGGCCCGGGGGTAGGACCTGCCCCACTGGCAGTGCTGGGACCCCGTGTGGGGGAGGCGCTGGGGCTTTGGGCCGCTGTACAGGAGGACGCGGATGGCACCTCGGTGCTTTAACGGAAGGGGCCCCTAGGCAGACACGTGGGGAGGGTTCTAGGAAGAGGCCCCAGGCGCCCGGCGAGGGGCAGGAAGGAGGAAGAGAGAGCCTGGCGTCCTGCTCCTTCGGTGGAAGCGCGCGCGGGGCGGGGCCCGGCTCGACCAGGTGTGTCCTCACGGGTGGACACACACCTGCCCCCCACCTGCCCGGGCGTGCAGACCCACGTGTGCGCGCTAGAGGGGACTGCTGACGGCTCCGGGGTTCGAAACCTGGCTTCACTGCTTTCTTGTATCTTGGGCAAGGGGCGTGCCTCTCTGTTTGGGTTTCCCAGCTGTCCAATGGGCGAATTACAGGACCTCCCTCCAGGGGAGAGGGTAAAGCGATTAAAATCGTGACCGGGGCCCGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCATGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGATGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTAAGACAGGAGAATTGCTTGAACCCGGGAGGTTGCAGTGAGCCGATATCGCGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTTGTCTCAAAGGAAAAAAAAATATTGTGGCAGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTTTACTAAAAATACAAAAATTAGCCGGGCATGGTCGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCAGTGCACCCTAGCCTGGGCGACAGAGCGAGACTCCGTCCCCCCTCCCCCCCAAAAAAATCGTGACAGGTATATCCTAGGCGGCCAACACCATTGGCCCGGGGCACTGTCTACACTGTGCGCTTGCGGGCCACGTCGGTGTCTGCTGAGCGGTGGCTGCTCCAGGAGCCCGCGCCCGTCAGGCGCAAGTGGGAGGGCGCGTGCACACGCATGGACCAGTCCTCCAGGTCCACGGGGTACGCACAGGCACGGGATGGCACCTGTGCACGGGTGTGTGCGTGCGGCGGGGCCCCCACGTGCAAGAATCTGGCGGGCGCGGTTGGCTTCCGGAGGGAGGGGCCCACCTAGAGAGCAGACCAGGGACCCGAGAGGCCTCGGCTCCTGGGTAAGGACTGTCCAGGTGACCTCGAGTCCCTCCTTGCAGTACCTGGAGATGCGCTTCAGCCGCGCAGTGCGGCTCTGCGGGACTTTGCAGTACATTGTAGCCACGGTGAGTGGCCTCGGCCCCGCCCTCCGCTCAGGGCCCCGAGAGCGTCAGCCTTCACTAGCCCGGCCCCCACCATTCAAGACCCCGCCCAGACCCCGCCCCCCATGCTCCCGTTCTGACCCCGCCCCCATCAGTCCCCTCCCACACCACAGCCGGCCTGACCCCGCCTGCACTCTGGAAGACCCGGCCTATCTGCCCCGCCCATATTCTGGGACCACCCTTCTGCCTCCTCTCCCCATCCCCAACTCGCCCAGACGCCCTCCCTGCTCACCCGCCCCACACTCTGTCTACAGATGCTGTACACCGGCATCGTAATCTACGCACCGGCCCTCATCCTGAACCAAGGTGTGACTCTGGGAGATTAGGGAAGCATGTCTGGGAAGAGAAAGGGAGGGAGAGGAGAACCCAAGACTAAGTTTGCGCCCCGCCCAGGGGCCTAACAG
Task1_train_26920
This sequence change occurs on Chromosome 19, altering SLC5A5 (solute carrier family 5 member 5). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; not provided
TTTTTGAGCCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAACCTCAGCTCACTGCAACCTCTGGCTCCCAGGATCAAGCCATTCTCTTGCCTCAGCCCCCGAGTAGCTGGGATGACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTGTATTTTTTGTAGGGGTGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCTGAATGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTTTCTTTCTTTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTTTGGCTCTGTTGTGCAGGCTGGAGTGCAACGGCGCGATCTCCGCTCGCTGCAACCTCTACCTCTCAGATTCAGGCAATTCCTCTGCCTCAGCCTCCCAAGTAGCTGGGACTCCAGGTGCCAACCACCACACCCAGCTAATTTATGTATTTTGGGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGAGCTCAAGTGATCCACCCGCCTCGGCCTCCCGAAGTGTTGGGATTACACGCGTGAGTCACCCTGCCCGGCCAGACCCCTATCTTTACACAAAAATTTAAAAAAATTAGCCAGGCATGGTGGCGCACACCTGTGGTCTCAGCTACTGGGGGACTGAAGCAGGAAGATCGCTTGAGCCCAGGAGTTCTAGGCTGCAGTGAGCCACATTCATGGGACTGCACTCCCGCCTGGGCAACAGAGCAAGATCTTTTCTCAAAACAAAACAAAACAAAACAAAACCACAGACAAAAACTAAATGCATATTAAATGCCGACTCTGAGCCCTGTCCGTCTTGGGTGCTGGGGACGTGCAGCATCAGGACAGATAGATGCCCCGGTCCTCGGGGTGCAGCTGTCTGGGAGGCTGACCCCCAGTTCTCCCCAGTACATGCCTCTGCTGGTGCTGGACATCTTCGAAGATCTGCCTGGAGTCCCCGGGCTTTTCCTGGCCTGTGCTTACAGTGGCACCCTCAGGTGAGCACCCCTGCTTGTTCATGGAGCATTATTTCAGCCCCTGGGAGCCTCCTTATCCTGGCCTGCCATCCCTCTGGGGCATGGAATGTTCTGGACCTGTCCATCAGTCCCAGTTCCTGCTTGATCCCTAGAAGACAGCTCAGGTAGGCGCTGGCAGAGAGCATGCCCTGGGCACAGGGACCCCAACTGCAAGGGTTTACCTTCTTATCACCTGTCAGGGCCACGCCTGACTCTCCTCTCTTCTTCTTCCTTCTTTCCTTCCTTCCTCCCCAGACAAATATTTGTTGAACATCTACTATGTGGCAGGTACTGTTTTTTTTTGTTTTTTTTCCGGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTCCACGCCACCACAGCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCATGCTTTGGCCTCGCAAAGTGCTGAGATTGCAGGCATGAGCCAACGTGCTCAGCCCAGGTACTGTTGTTCTAAACCCTGGGGCACAGCCATGACCAAGCAGTCCCCTGCTTCTGCCTTCCAAGGCCACACACTCAGGTGGTTTCCACTCTTCCGGGACTTCTGGTCACATGCCCTCACTGTCCCTTTTGCAAATCTCCCACATGTGACTGCAGTCCCTCTGGAACCAGAACCCACCTGTCTGTCCCACCTGCCCTTGGTCACAGGTGTCCTTGCTCCTGTAGGGATGTCTCAGGTCTTCGGGGAGGGGAGGGGCAAATATCTCCTTCACCTTTGCAGGACTGGGTTACCCCCACCGTTGCCCTCAGGCTGGGTGAGGTCTGGCAGGCCAGATGGTGTGGACGGTCTCTCCATATGGCCTGAGGACCCCCCGCTGCCTTCCTCACACAGCACAGCATCCACCAGCATCAATGCTATGGCTGCAGTCACTGTAGAAGACCTCATCAAACCTCGGCTGCGGAGCCTGGCACCCAGGAAACTCGTGATTATCTCCAAGGGGCTCTGTGAGTTTCAGGGAGACCTGGGTGGGAGGCCAGGGCAGTCCCTCCCCGTTGACCGTGCCATCCTCATCCACTACAGCACTCATCTACGGATCGGCCTGTCTCACCGTGGCAGCCCTGTCCTCACTGCTCGGAGGAGGTGTCCTTCAGGTGAGACCCCACCTGCCCCCTGCCCTGGTCTCCTGAGAGGTGGGGGCACCTTTCCCTCTTTCCCATTAAACTGAGGCTCAGAGAGGTCACATGTGTCAGTGGCAGAACTCACTTCTATGTTTTTTTTTTTTTTGAGATGGGGTCTCACTGTGTTGTCCCAGGTTGGTGAGCAGAGGCCCGATCATAGCTCACTGCAACCTCCAGCTCCTGGGTTCAAGCCATCCTTCCACCTCAATCTCCCAAGTAGCTGGAGTTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGGTGGAGTGTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCGCTGCAACCTCCACCCCCTGGGTTCAAGGAATTCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCGTCTAATATTTTTGTATTTTTTTTTCTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTTGGCTCACTGCAAGCTCAGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACGCCTGACTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTTATATTTTTGTATTTTTATTAGAGATGGGACTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCTGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTGGCTAATTTTAAAACTTGTTTTTAGAGACAGGGTCTCGCTTCGTGCCTAGGCTTGTCTTGAACTCCTGGCCTCAAGCAACCACCCGCCTCAGCCTTCCAAGTCGCTGAGATTAAGAACTAAGTTCTATTTGATGCCAGAGGCCATCAGGGGACTTTTTTGCAGCTGGCTGGCTTGGGGTGGGGGAATTGGGAAGGGGGAGGTGGCGACAGAAAGGGCCTCCCTATGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAACCTGGACAGCAAAGTGAGACTCTGTCTAAAAAAAAAAAAGAAGAAGAAAGGGTCTCCCTGGCTTGAGGGTGGGACTGCCACCCCCAAGAGATAATCAGTGTCTTTGCCTCCAACCCAAGGGAGATAGGCAGGAACAAGGGGGGGGGGTCCTCTCCCCTTTAGGGAAACTGAGACACAGAGGAGTCCTTGAGACCCACATTGGAGTTCCTGAGGTCTCGCTTTCCCAGCGGGTAAACTGAGGCCCAGAGCGGTGGGAGGGCTCCGCCCTCAGCCCCACTTCCACCTACTCTCCCAGGGCTCCTTCACCGTCATGGGAGTCATCAGCGGCCCCCTGCTGGGAGCCTTCATCTTGGGAATGTTCCTGCCGGCCTGCAACACACCGGTGAGTGGGGGCGGGGCAAGGGGCGGGGAGGGGCGGGGCCGGACAGGCCCCTCCCCTTCCCTGACGCCGGCTCTGCCCCCAGGGCGTCCTCGCGGGACTAGGCGCGGGCTTGGCGCTGTCGCTGTGGGTGGCCTTGGGCGCCACGCTGTACCCACCCAGCGAGCAGACCATGAGGGTCCTGCCATCGTCGGCTGCCCGCTGCGTGGCTCTCTCAGTCAACGCCTCTGGCCTCCTGGACCCG
TTTTTGAGCCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAACCTCAGCTCACTGCAACCTCTGGCTCCCAGGATCAAGCCATTCTCTTGCCTCAGCCCCCGAGTAGCTGGGATGACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTGTATTTTTTGTAGGGGTGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCTGAATGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTTTCTTTCTTTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTTTGGCTCTGTTGTGCAGGCTGGAGTGCAACGGCGCGATCTCCGCTCGCTGCAACCTCTACCTCTCAGATTCAGGCAATTCCTCTGCCTCAGCCTCCCAAGTAGCTGGGACTCCAGGTGCCAACCACCACACCCAGCTAATTTATGTATTTTGGGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGAGCTCAAGTGATCCACCCGCCTCGGCCTCCCGAAGTGTTGGGATTACACGCGTGAGTCACCCTGCCCGGCCAGACCCCTATCTTTACACAAAAATTTAAAAAAATTAGCCAGGCATGGTGGCGCACACCTGTGGTCTCAGCTACTGGGGGACTGAAGCAGGAAGATCGCTTGAGCCCAGGAGTTCTAGGCTGCAGTGAGCCACATTCATGGGACTGCACTCCCGCCTGGGCAACAGAGCAAGATCTTTTCTCAAAACAAAACAAAACAAAACAAAACCACAGACAAAAACTAAATGCATATTAAATGCCGACTCTGAGCCCTGTCCGTCTTGGGTGCTGGGGACGTGCAGCATCAGGACAGATAGATGCCCCGGTCCTCGGGGTGCAGCTGTCTGGGAGGCTGACCCCCAGTTCTCCCCAGTACATGCCTCTGCTGGTGCTGGACATCTTCGAAGATCTGCCTGGAGTCCCCGGGCTTTTCCTGGCCTGTGCTTACAGTGGCACCCTCAGGTGAGCACCCCTGCTTGTTCATGGAGCATTATTTCAGCCCCTGGGAGCCTCCTTATCCTGGCCTGCCATCCCTCTGGGGCATGGAATGTTCTGGACCTGTCCATCAGTCCCAGTTCCTGCTTGATCCCTAGAAGACAGCTCAGGTAGGCGCTGGCAGAGAGCATGCCCTGGGCACAGGGACCCCAACTGCAAGGGTTTACCTTCTTATCACCTGTCAGGGCCACGCCTGACTCTCCTCTCTTCTTCTTCCTTCTTTCCTTCCTTCCTCCCCAGACAAATATTTGTTGAACATCTACTATGTGGCAGGTACTGTTTTTTTTTGTTTTTTTTCCGGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTCCACGCCACCACAGCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCATGCTTTGGCCTCGCAAAGTGCTGAGATTGCAGGCATGAGCCAACGTGCTCAGCCCAGGTACTGTTGTTCTAAACCCTGGGGCACAGCCATGACCAAGCAGTCCCCTGCTTCTGCCTTCCAAGGCCACACACTCAGGTGGTTTCCACTCTTCCGGGACTTCTGGTCACATGCCCTCACTGTCCCTTTTGCAAATCTCCCACATGTGACTGCAGTCCCTCTGGAACCAGAACCCACCTGTCTGTCCCACCTGCCCTTGGTCACAGGTGTCCTTGCTCCTGTAGGGATGTCTCAGGTCTTCGGGGAGGGGAGGGGCAAATATCTCCTTCACCTTTGCAGGACTGGGTTACCCCCACCGTTGCCCTCAGGCTGGGTGAGGTCTGGCAGGCCAGATGGTGTGGACGGTCTCTCCATATGGCCTGAGGACCCCCCGCTGCCTTCCTCACACAGCCCAGCATCCACCAGCATCAATGCTATGGCTGCAGTCACTGTAGAAGACCTCATCAAACCTCGGCTGCGGAGCCTGGCACCCAGGAAACTCGTGATTATCTCCAAGGGGCTCTGTGAGTTTCAGGGAGACCTGGGTGGGAGGCCAGGGCAGTCCCTCCCCGTTGACCGTGCCATCCTCATCCACTACAGCACTCATCTACGGATCGGCCTGTCTCACCGTGGCAGCCCTGTCCTCACTGCTCGGAGGAGGTGTCCTTCAGGTGAGACCCCACCTGCCCCCTGCCCTGGTCTCCTGAGAGGTGGGGGCACCTTTCCCTCTTTCCCATTAAACTGAGGCTCAGAGAGGTCACATGTGTCAGTGGCAGAACTCACTTCTATGTTTTTTTTTTTTTTGAGATGGGGTCTCACTGTGTTGTCCCAGGTTGGTGAGCAGAGGCCCGATCATAGCTCACTGCAACCTCCAGCTCCTGGGTTCAAGCCATCCTTCCACCTCAATCTCCCAAGTAGCTGGAGTTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGGTGGAGTGTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCGCTGCAACCTCCACCCCCTGGGTTCAAGGAATTCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCGTCTAATATTTTTGTATTTTTTTTTCTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTTGGCTCACTGCAAGCTCAGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACGCCTGACTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTTATATTTTTGTATTTTTATTAGAGATGGGACTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCTGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTGGCTAATTTTAAAACTTGTTTTTAGAGACAGGGTCTCGCTTCGTGCCTAGGCTTGTCTTGAACTCCTGGCCTCAAGCAACCACCCGCCTCAGCCTTCCAAGTCGCTGAGATTAAGAACTAAGTTCTATTTGATGCCAGAGGCCATCAGGGGACTTTTTTGCAGCTGGCTGGCTTGGGGTGGGGGAATTGGGAAGGGGGAGGTGGCGACAGAAAGGGCCTCCCTATGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAACCTGGACAGCAAAGTGAGACTCTGTCTAAAAAAAAAAAAGAAGAAGAAAGGGTCTCCCTGGCTTGAGGGTGGGACTGCCACCCCCAAGAGATAATCAGTGTCTTTGCCTCCAACCCAAGGGAGATAGGCAGGAACAAGGGGGGGGGGTCCTCTCCCCTTTAGGGAAACTGAGACACAGAGGAGTCCTTGAGACCCACATTGGAGTTCCTGAGGTCTCGCTTTCCCAGCGGGTAAACTGAGGCCCAGAGCGGTGGGAGGGCTCCGCCCTCAGCCCCACTTCCACCTACTCTCCCAGGGCTCCTTCACCGTCATGGGAGTCATCAGCGGCCCCCTGCTGGGAGCCTTCATCTTGGGAATGTTCCTGCCGGCCTGCAACACACCGGTGAGTGGGGGCGGGGCAAGGGGCGGGGAGGGGCGGGGCCGGACAGGCCCCTCCCCTTCCCTGACGCCGGCTCTGCCCCCAGGGCGTCCTCGCGGGACTAGGCGCGGGCTTGGCGCTGTCGCTGTGGGTGGCCTTGGGCGCCACGCTGTACCCACCCAGCGAGCAGACCATGAGGGTCCTGCCATCGTCGGCTGCCCGCTGCGTGGCTCTCTCAGTCAACGCCTCTGGCCTCCTGGACCCG
Task1_train_26921
This genomic variant is located on Chromosome 19, within the SLC5A5 (solute carrier family 5 member 5) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Thyroid dyshormonogenesis 1
GCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCTGAATGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTTTCTTTCTTTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTTTGGCTCTGTTGTGCAGGCTGGAGTGCAACGGCGCGATCTCCGCTCGCTGCAACCTCTACCTCTCAGATTCAGGCAATTCCTCTGCCTCAGCCTCCCAAGTAGCTGGGACTCCAGGTGCCAACCACCACACCCAGCTAATTTATGTATTTTGGGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGAGCTCAAGTGATCCACCCGCCTCGGCCTCCCGAAGTGTTGGGATTACACGCGTGAGTCACCCTGCCCGGCCAGACCCCTATCTTTACACAAAAATTTAAAAAAATTAGCCAGGCATGGTGGCGCACACCTGTGGTCTCAGCTACTGGGGGACTGAAGCAGGAAGATCGCTTGAGCCCAGGAGTTCTAGGCTGCAGTGAGCCACATTCATGGGACTGCACTCCCGCCTGGGCAACAGAGCAAGATCTTTTCTCAAAACAAAACAAAACAAAACAAAACCACAGACAAAAACTAAATGCATATTAAATGCCGACTCTGAGCCCTGTCCGTCTTGGGTGCTGGGGACGTGCAGCATCAGGACAGATAGATGCCCCGGTCCTCGGGGTGCAGCTGTCTGGGAGGCTGACCCCCAGTTCTCCCCAGTACATGCCTCTGCTGGTGCTGGACATCTTCGAAGATCTGCCTGGAGTCCCCGGGCTTTTCCTGGCCTGTGCTTACAGTGGCACCCTCAGGTGAGCACCCCTGCTTGTTCATGGAGCATTATTTCAGCCCCTGGGAGCCTCCTTATCCTGGCCTGCCATCCCTCTGGGGCATGGAATGTTCTGGACCTGTCCATCAGTCCCAGTTCCTGCTTGATCCCTAGAAGACAGCTCAGGTAGGCGCTGGCAGAGAGCATGCCCTGGGCACAGGGACCCCAACTGCAAGGGTTTACCTTCTTATCACCTGTCAGGGCCACGCCTGACTCTCCTCTCTTCTTCTTCCTTCTTTCCTTCCTTCCTCCCCAGACAAATATTTGTTGAACATCTACTATGTGGCAGGTACTGTTTTTTTTTGTTTTTTTTCCGGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTCCACGCCACCACAGCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCATGCTTTGGCCTCGCAAAGTGCTGAGATTGCAGGCATGAGCCAACGTGCTCAGCCCAGGTACTGTTGTTCTAAACCCTGGGGCACAGCCATGACCAAGCAGTCCCCTGCTTCTGCCTTCCAAGGCCACACACTCAGGTGGTTTCCACTCTTCCGGGACTTCTGGTCACATGCCCTCACTGTCCCTTTTGCAAATCTCCCACATGTGACTGCAGTCCCTCTGGAACCAGAACCCACCTGTCTGTCCCACCTGCCCTTGGTCACAGGTGTCCTTGCTCCTGTAGGGATGTCTCAGGTCTTCGGGGAGGGGAGGGGCAAATATCTCCTTCACCTTTGCAGGACTGGGTTACCCCCACCGTTGCCCTCAGGCTGGGTGAGGTCTGGCAGGCCAGATGGTGTGGACGGTCTCTCCATATGGCCTGAGGACCCCCCGCTGCCTTCCTCACACAGCACAGCATCCACCAGCATCAATGCTATGGCTGCAGTCACTGTAGAAGACCTCATCAAACCTCGGCTGCGGAGCCTGGCACCCAGGAAACTCGTGATTATCTCCAAGGGGCTCTGTGAGTTTCAGGGAGACCTGGGTGGGAGGCCAGGGCAGTCCCTCCCCGTTGACCGTGCCATCCTCATCCACTACAGCACTCATCTACGGATCGGCCTGTCTCACCGTGGCAGCCCTGTCCTCACTGCTCGGAGGAGGTGTCCTTCAGGTGAGACCCCACCTGCCCCCTGCCCTGGTCTCCTGAGAGGTGGGGGCACCTTTCCCTCTTTCCCATTAAACTGAGGCTCAGAGAGGTCACATGTGTCAGTGGCAGAACTCACTTCTATGTTTTTTTTTTTTTTGAGATGGGGTCTCACTGTGTTGTCCCAGGTTGGTGAGCAGAGGCCCGATCATAGCTCACTGCAACCTCCAGCTCCTGGGTTCAAGCCATCCTTCCACCTCAATCTCCCAAGTAGCTGGAGTTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGGTGGAGTGTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCGCTGCAACCTCCACCCCCTGGGTTCAAGGAATTCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCGTCTAATATTTTTGTATTTTTTTTTCTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTTGGCTCACTGCAAGCTCAGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACGCCTGACTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTTATATTTTTGTATTTTTATTAGAGATGGGACTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCTGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTGGCTAATTTTAAAACTTGTTTTTAGAGACAGGGTCTCGCTTCGTGCCTAGGCTTGTCTTGAACTCCTGGCCTCAAGCAACCACCCGCCTCAGCCTTCCAAGTCGCTGAGATTAAGAACTAAGTTCTATTTGATGCCAGAGGCCATCAGGGGACTTTTTTGCAGCTGGCTGGCTTGGGGTGGGGGAATTGGGAAGGGGGAGGTGGCGACAGAAAGGGCCTCCCTATGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAACCTGGACAGCAAAGTGAGACTCTGTCTAAAAAAAAAAAAGAAGAAGAAAGGGTCTCCCTGGCTTGAGGGTGGGACTGCCACCCCCAAGAGATAATCAGTGTCTTTGCCTCCAACCCAAGGGAGATAGGCAGGAACAAGGGGGGGGGGTCCTCTCCCCTTTAGGGAAACTGAGACACAGAGGAGTCCTTGAGACCCACATTGGAGTTCCTGAGGTCTCGCTTTCCCAGCGGGTAAACTGAGGCCCAGAGCGGTGGGAGGGCTCCGCCCTCAGCCCCACTTCCACCTACTCTCCCAGGGCTCCTTCACCGTCATGGGAGTCATCAGCGGCCCCCTGCTGGGAGCCTTCATCTTGGGAATGTTCCTGCCGGCCTGCAACACACCGGTGAGTGGGGGCGGGGCAAGGGGCGGGGAGGGGCGGGGCCGGACAGGCCCCTCCCCTTCCCTGACGCCGGCTCTGCCCCCAGGGCGTCCTCGCGGGACTAGGCGCGGGCTTGGCGCTGTCGCTGTGGGTGGCCTTGGGCGCCACGCTGTACCCACCCAGCGAGCAGACCATGAGGGTCCTGCCATCGTCGGCTGCCCGCTGCGTGGCTCTCTCAGTCAACGCCTCTGGCCTCCTGGACCCGGCTCTCCTCCCTGCTAACGACTCCAGCAGGGCCCCCAGGTGAGCAGACTTGAGGGTAGGGGGGTACCCGAGCCCTGGATGGTGTGATCTTGAAGGGAAACTTACTTGCCCTGCACTCTGTGTAAGAAGCCTGATTAGTAAAATGCATTCCTGGGGGAGGGAACGGTAGGTGCAAAGGCCCTGAGGCCACAATCGGGTTA
GCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCTGAATGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTTTCTTTCTTTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTTTGGCTCTGTTGTGCAGGCTGGAGTGCAACGGCGCGATCTCCGCTCGCTGCAACCTCTACCTCTCAGATTCAGGCAATTCCTCTGCCTCAGCCTCCCAAGTAGCTGGGACTCCAGGTGCCAACCACCACACCCAGCTAATTTATGTATTTTGGGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGAGCTCAAGTGATCCACCCGCCTCGGCCTCCCGAAGTGTTGGGATTACACGCGTGAGTCACCCTGCCCGGCCAGACCCCTATCTTTACACAAAAATTTAAAAAAATTAGCCAGGCATGGTGGCGCACACCTGTGGTCTCAGCTACTGGGGGACTGAAGCAGGAAGATCGCTTGAGCCCAGGAGTTCTAGGCTGCAGTGAGCCACATTCATGGGACTGCACTCCCGCCTGGGCAACAGAGCAAGATCTTTTCTCAAAACAAAACAAAACAAAACAAAACCACAGACAAAAACTAAATGCATATTAAATGCCGACTCTGAGCCCTGTCCGTCTTGGGTGCTGGGGACGTGCAGCATCAGGACAGATAGATGCCCCGGTCCTCGGGGTGCAGCTGTCTGGGAGGCTGACCCCCAGTTCTCCCCAGTACATGCCTCTGCTGGTGCTGGACATCTTCGAAGATCTGCCTGGAGTCCCCGGGCTTTTCCTGGCCTGTGCTTACAGTGGCACCCTCAGGTGAGCACCCCTGCTTGTTCATGGAGCATTATTTCAGCCCCTGGGAGCCTCCTTATCCTGGCCTGCCATCCCTCTGGGGCATGGAATGTTCTGGACCTGTCCATCAGTCCCAGTTCCTGCTTGATCCCTAGAAGACAGCTCAGGTAGGCGCTGGCAGAGAGCATGCCCTGGGCACAGGGACCCCAACTGCAAGGGTTTACCTTCTTATCACCTGTCAGGGCCACGCCTGACTCTCCTCTCTTCTTCTTCCTTCTTTCCTTCCTTCCTCCCCAGACAAATATTTGTTGAACATCTACTATGTGGCAGGTACTGTTTTTTTTTGTTTTTTTTCCGGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTCCACGCCACCACAGCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCATGCTTTGGCCTCGCAAAGTGCTGAGATTGCAGGCATGAGCCAACGTGCTCAGCCCAGGTACTGTTGTTCTAAACCCTGGGGCACAGCCATGACCAAGCAGTCCCCTGCTTCTGCCTTCCAAGGCCACACACTCAGGTGGTTTCCACTCTTCCGGGACTTCTGGTCACATGCCCTCACTGTCCCTTTTGCAAATCTCCCACATGTGACTGCAGTCCCTCTGGAACCAGAACCCACCTGTCTGTCCCACCTGCCCTTGGTCACAGGTGTCCTTGCTCCTGTAGGGATGTCTCAGGTCTTCGGGGAGGGGAGGGGCAAATATCTCCTTCACCTTTGCAGGACTGGGTTACCCCCACCGTTGCCCTCAGGCTGGGTGAGGTCTGGCAGGCCAGATGGTGTGGACGGTCTCTCCATATGGCCTGAGGACCCCCCGCTGCCTTCCTCACACAGCACAGCATCCACCAGCATCAATGCTATGGCTGCAGTCACTGTAGAAGACCTCATCAAACCTCGGCTGCGGAGCCTGGCACCCAGGAAACTCGTGATTATCTCCAAGGGGCTCTGTGAGTTTCAGGGAGACCTGGGTGGGAGGCCAGGGCAGTCCCTCCCCGTTGACCGTGCCATCCTCATCCACTACAGCACTCATCTACAGATCGGCCTGTCTCACCGTGGCAGCCCTGTCCTCACTGCTCGGAGGAGGTGTCCTTCAGGTGAGACCCCACCTGCCCCCTGCCCTGGTCTCCTGAGAGGTGGGGGCACCTTTCCCTCTTTCCCATTAAACTGAGGCTCAGAGAGGTCACATGTGTCAGTGGCAGAACTCACTTCTATGTTTTTTTTTTTTTTGAGATGGGGTCTCACTGTGTTGTCCCAGGTTGGTGAGCAGAGGCCCGATCATAGCTCACTGCAACCTCCAGCTCCTGGGTTCAAGCCATCCTTCCACCTCAATCTCCCAAGTAGCTGGAGTTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGGTGGAGTGTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCGCTGCAACCTCCACCCCCTGGGTTCAAGGAATTCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCGTCTAATATTTTTGTATTTTTTTTTCTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTTGGCTCACTGCAAGCTCAGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACGCCTGACTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTTATATTTTTGTATTTTTATTAGAGATGGGACTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCTGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTGGCTAATTTTAAAACTTGTTTTTAGAGACAGGGTCTCGCTTCGTGCCTAGGCTTGTCTTGAACTCCTGGCCTCAAGCAACCACCCGCCTCAGCCTTCCAAGTCGCTGAGATTAAGAACTAAGTTCTATTTGATGCCAGAGGCCATCAGGGGACTTTTTTGCAGCTGGCTGGCTTGGGGTGGGGGAATTGGGAAGGGGGAGGTGGCGACAGAAAGGGCCTCCCTATGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAACCTGGACAGCAAAGTGAGACTCTGTCTAAAAAAAAAAAAGAAGAAGAAAGGGTCTCCCTGGCTTGAGGGTGGGACTGCCACCCCCAAGAGATAATCAGTGTCTTTGCCTCCAACCCAAGGGAGATAGGCAGGAACAAGGGGGGGGGGTCCTCTCCCCTTTAGGGAAACTGAGACACAGAGGAGTCCTTGAGACCCACATTGGAGTTCCTGAGGTCTCGCTTTCCCAGCGGGTAAACTGAGGCCCAGAGCGGTGGGAGGGCTCCGCCCTCAGCCCCACTTCCACCTACTCTCCCAGGGCTCCTTCACCGTCATGGGAGTCATCAGCGGCCCCCTGCTGGGAGCCTTCATCTTGGGAATGTTCCTGCCGGCCTGCAACACACCGGTGAGTGGGGGCGGGGCAAGGGGCGGGGAGGGGCGGGGCCGGACAGGCCCCTCCCCTTCCCTGACGCCGGCTCTGCCCCCAGGGCGTCCTCGCGGGACTAGGCGCGGGCTTGGCGCTGTCGCTGTGGGTGGCCTTGGGCGCCACGCTGTACCCACCCAGCGAGCAGACCATGAGGGTCCTGCCATCGTCGGCTGCCCGCTGCGTGGCTCTCTCAGTCAACGCCTCTGGCCTCCTGGACCCGGCTCTCCTCCCTGCTAACGACTCCAGCAGGGCCCCCAGGTGAGCAGACTTGAGGGTAGGGGGGTACCCGAGCCCTGGATGGTGTGATCTTGAAGGGAAACTTACTTGCCCTGCACTCTGTGTAAGAAGCCTGATTAGTAAAATGCATTCCTGGGGGAGGGAACGGTAGGTGCAAAGGCCCTGAGGCCACAATCGGGTTA
Task1_train_26922
The gene SLC5A5 (solute carrier family 5 member 5) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Thyroid dyshormonogenesis 1
GTTTCCACTCTTCCGGGACTTCTGGTCACATGCCCTCACTGTCCCTTTTGCAAATCTCCCACATGTGACTGCAGTCCCTCTGGAACCAGAACCCACCTGTCTGTCCCACCTGCCCTTGGTCACAGGTGTCCTTGCTCCTGTAGGGATGTCTCAGGTCTTCGGGGAGGGGAGGGGCAAATATCTCCTTCACCTTTGCAGGACTGGGTTACCCCCACCGTTGCCCTCAGGCTGGGTGAGGTCTGGCAGGCCAGATGGTGTGGACGGTCTCTCCATATGGCCTGAGGACCCCCCGCTGCCTTCCTCACACAGCACAGCATCCACCAGCATCAATGCTATGGCTGCAGTCACTGTAGAAGACCTCATCAAACCTCGGCTGCGGAGCCTGGCACCCAGGAAACTCGTGATTATCTCCAAGGGGCTCTGTGAGTTTCAGGGAGACCTGGGTGGGAGGCCAGGGCAGTCCCTCCCCGTTGACCGTGCCATCCTCATCCACTACAGCACTCATCTACGGATCGGCCTGTCTCACCGTGGCAGCCCTGTCCTCACTGCTCGGAGGAGGTGTCCTTCAGGTGAGACCCCACCTGCCCCCTGCCCTGGTCTCCTGAGAGGTGGGGGCACCTTTCCCTCTTTCCCATTAAACTGAGGCTCAGAGAGGTCACATGTGTCAGTGGCAGAACTCACTTCTATGTTTTTTTTTTTTTTGAGATGGGGTCTCACTGTGTTGTCCCAGGTTGGTGAGCAGAGGCCCGATCATAGCTCACTGCAACCTCCAGCTCCTGGGTTCAAGCCATCCTTCCACCTCAATCTCCCAAGTAGCTGGAGTTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGGTGGAGTGTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCGCTGCAACCTCCACCCCCTGGGTTCAAGGAATTCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCGTCTAATATTTTTGTATTTTTTTTTCTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTTGGCTCACTGCAAGCTCAGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACGCCTGACTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTTATATTTTTGTATTTTTATTAGAGATGGGACTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCTGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTGGCTAATTTTAAAACTTGTTTTTAGAGACAGGGTCTCGCTTCGTGCCTAGGCTTGTCTTGAACTCCTGGCCTCAAGCAACCACCCGCCTCAGCCTTCCAAGTCGCTGAGATTAAGAACTAAGTTCTATTTGATGCCAGAGGCCATCAGGGGACTTTTTTGCAGCTGGCTGGCTTGGGGTGGGGGAATTGGGAAGGGGGAGGTGGCGACAGAAAGGGCCTCCCTATGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAACCTGGACAGCAAAGTGAGACTCTGTCTAAAAAAAAAAAAGAAGAAGAAAGGGTCTCCCTGGCTTGAGGGTGGGACTGCCACCCCCAAGAGATAATCAGTGTCTTTGCCTCCAACCCAAGGGAGATAGGCAGGAACAAGGGGGGGGGGTCCTCTCCCCTTTAGGGAAACTGAGACACAGAGGAGTCCTTGAGACCCACATTGGAGTTCCTGAGGTCTCGCTTTCCCAGCGGGTAAACTGAGGCCCAGAGCGGTGGGAGGGCTCCGCCCTCAGCCCCACTTCCACCTACTCTCCCAGGGCTCCTTCACCGTCATGGGAGTCATCAGCGGCCCCCTGCTGGGAGCCTTCATCTTGGGAATGTTCCTGCCGGCCTGCAACACACCGGTGAGTGGGGGCGGGGCAAGGGGCGGGGAGGGGCGGGGCCGGACAGGCCCCTCCCCTTCCCTGACGCCGGCTCTGCCCCCAGGGCGTCCTCGCGGGACTAGGCGCGGGCTTGGCGCTGTCGCTGTGGGTGGCCTTGGGCGCCACGCTGTACCCACCCAGCGAGCAGACCATGAGGGTCCTGCCATCGTCGGCTGCCCGCTGCGTGGCTCTCTCAGTCAACGCCTCTGGCCTCCTGGACCCGGCTCTCCTCCCTGCTAACGACTCCAGCAGGGCCCCCAGGTGAGCAGACTTGAGGGTAGGGGGGTACCCGAGCCCTGGATGGTGTGATCTTGAAGGGAAACTTACTTGCCCTGCACTCTGTGTAAGAAGCCTGATTAGTAAAATGCATTCCTGGGGGAGGGAACGGTAGGTGCAAAGGCCCTGAGGCCACAATCGGGTTAGTCCCAGTCCAACTGCACTGAGGTTAGGGTGCATTTAATGGGAGGAGAGATGGGTGGGAGATATGGTGCAGCCAGAGGAAGCTAGTACTTTTTTTGTTTTGTTTTTCTGAGACAGAGCCTCGCTCTGTGGTCCAGGCTGGAATGCAGGGGTGCAATCTCAGCTTACTGCAGCTTCAACCTCTCAGGCTCAAGCAATCCTCCCAGCTTGAGGGAGGCCCAGAATTTGGTTTGGTTCTATTTTTTATTGAGATAAATTAGCCATTTAAAAGTGGCATTTAGGCCAGGCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTGATCAACATGGGGAAACCCCCGTCTCTACTAAAAATACAAAACTTAGCCAAGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTATTCCAGCCTGGGCAACAAAAATGAAACTCCAACTCAAATAAATAAATTAAAGTGGCATTTAGTATATTTGTGCAACCATCACCACTATCTAAGTCAAGAACGTTTCCTCTTTTTTTTTTCTAATTTTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCAAAAACATTTTCTATTTTTTTTTTTTTTTGGAGCAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTCCAGTGGCACGATCATAGCTCACTGCTGCCTCAACCTCCTGGGCTCAAGGAATCTTCCTACCTCAGCCCCCCTAGTTGCTGGGACCACAGGTGCACACCATCATGTCCTGCTTGTTTTTATTTTTATTTTTTGTAGAGACAGGGTCTGGCTATGTTGCCCAGGCTGGTCTGGAATTCCTGGGCTCAAGCGATCTGCCCACCTCAGCCTTGCAAAGTGCCAGGATGACAGGTGTGGGCACCCAGCCAACCAAGAACATTTTCTGTTTTGTTTATTTATTTATTTATTTATTTTGGTTTTTTGGGTGGGTTTTTTTGCTTTTTGTTTATTTGATTTTTTGGAGACAGGGTCTCACTCTAACACCCAGGCTGGAGTGCAATGGCACAATCACAGCTCACTGCACCATTGACCTCCAGACTCCGATGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCATGTATCACCATGCTGGGCTAAATTTTTTGTATTTTTTATAGAGACGAGTTTTTGCCATGTTGCCCAGGCTGGTCTCAAAGTATTGGGCTCAAGTGATCTGCCTGCCTCTGACTCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTTCCTGGTCATAAGAACATTTTTATCACCCCAGAAAGAAGCCCTGTCCCCATCAGCAGTCACTTCCCACTTCCCC
GTTTCCACTCTTCCGGGACTTCTGGTCACATGCCCTCACTGTCCCTTTTGCAAATCTCCCACATGTGACTGCAGTCCCTCTGGAACCAGAACCCACCTGTCTGTCCCACCTGCCCTTGGTCACAGGTGTCCTTGCTCCTGTAGGGATGTCTCAGGTCTTCGGGGAGGGGAGGGGCAAATATCTCCTTCACCTTTGCAGGACTGGGTTACCCCCACCGTTGCCCTCAGGCTGGGTGAGGTCTGGCAGGCCAGATGGTGTGGACGGTCTCTCCATATGGCCTGAGGACCCCCCGCTGCCTTCCTCACACAGCACAGCATCCACCAGCATCAATGCTATGGCTGCAGTCACTGTAGAAGACCTCATCAAACCTCGGCTGCGGAGCCTGGCACCCAGGAAACTCGTGATTATCTCCAAGGGGCTCTGTGAGTTTCAGGGAGACCTGGGTGGGAGGCCAGGGCAGTCCCTCCCCGTTGACCGTGCCATCCTCATCCACTACAGCACTCATCTACGGATCGGCCTGTCTCACCGTGGCAGCCCTGTCCTCACTGCTCGGAGGAGGTGTCCTTCAGGTGAGACCCCACCTGCCCCCTGCCCTGGTCTCCTGAGAGGTGGGGGCACCTTTCCCTCTTTCCCATTAAACTGAGGCTCAGAGAGGTCACATGTGTCAGTGGCAGAACTCACTTCTATGTTTTTTTTTTTTTTGAGATGGGGTCTCACTGTGTTGTCCCAGGTTGGTGAGCAGAGGCCCGATCATAGCTCACTGCAACCTCCAGCTCCTGGGTTCAAGCCATCCTTCCACCTCAATCTCCCAAGTAGCTGGAGTTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGGTGGAGTGTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCGCTGCAACCTCCACCCCCTGGGTTCAAGGAATTCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCGTCTAATATTTTTGTATTTTTTTTTCTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTTGGCTCACTGCAAGCTCAGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACGCCTGACTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTTATATTTTTGTATTTTTATTAGAGATGGGACTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCTGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTGGCTAATTTTAAAACTTGTTTTTAGAGACAGGGTCTCGCTTCGTGCCTAGGCTTGTCTTGAACTCCTGGCCTCAAGCAACCACCCGCCTCAGCCTTCCAAGTCGCTGAGATTAAGAACTAAGTTCTATTTGATGCCAGAGGCCATCAGGGGACTTTTTTGCAGCTGGCTGGCTTGGGGTGGGGGAATTGGGAAGGGGGAGGTGGCGACAGAAAGGGCCTCCCTATGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAACCTGGACAGCAAAGTGAGACTCTGTCTAAAAAAAAAAAAGAAGAAGAAAGGGTCTCCCTGGCTTGAGGGTGGGACTGCCACCCCCAAGAGATAATCAGTGTCTTTGCCTCCAACCCAAGGGAGATAGGCAGGAACAAGGGGGGGGGGTCCTCTCCCCTTTAGGGAAACTGAGACACAGAGGAGTCCTTGAGACCCACATTGGAGTTCCTGAGGTCTCGCTTTCCCAGCGGGTAAACTGAGGCCCAGAGCGGTGGGAGGGCTCCGCCCTCAGCCCCACTTCCACCTACTCTCCCAGGGCTCCTTCACCGTCATGAGAGTCATCAGCGGCCCCCTGCTGGGAGCCTTCATCTTGGGAATGTTCCTGCCGGCCTGCAACACACCGGTGAGTGGGGGCGGGGCAAGGGGCGGGGAGGGGCGGGGCCGGACAGGCCCCTCCCCTTCCCTGACGCCGGCTCTGCCCCCAGGGCGTCCTCGCGGGACTAGGCGCGGGCTTGGCGCTGTCGCTGTGGGTGGCCTTGGGCGCCACGCTGTACCCACCCAGCGAGCAGACCATGAGGGTCCTGCCATCGTCGGCTGCCCGCTGCGTGGCTCTCTCAGTCAACGCCTCTGGCCTCCTGGACCCGGCTCTCCTCCCTGCTAACGACTCCAGCAGGGCCCCCAGGTGAGCAGACTTGAGGGTAGGGGGGTACCCGAGCCCTGGATGGTGTGATCTTGAAGGGAAACTTACTTGCCCTGCACTCTGTGTAAGAAGCCTGATTAGTAAAATGCATTCCTGGGGGAGGGAACGGTAGGTGCAAAGGCCCTGAGGCCACAATCGGGTTAGTCCCAGTCCAACTGCACTGAGGTTAGGGTGCATTTAATGGGAGGAGAGATGGGTGGGAGATATGGTGCAGCCAGAGGAAGCTAGTACTTTTTTTGTTTTGTTTTTCTGAGACAGAGCCTCGCTCTGTGGTCCAGGCTGGAATGCAGGGGTGCAATCTCAGCTTACTGCAGCTTCAACCTCTCAGGCTCAAGCAATCCTCCCAGCTTGAGGGAGGCCCAGAATTTGGTTTGGTTCTATTTTTTATTGAGATAAATTAGCCATTTAAAAGTGGCATTTAGGCCAGGCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTGATCAACATGGGGAAACCCCCGTCTCTACTAAAAATACAAAACTTAGCCAAGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTATTCCAGCCTGGGCAACAAAAATGAAACTCCAACTCAAATAAATAAATTAAAGTGGCATTTAGTATATTTGTGCAACCATCACCACTATCTAAGTCAAGAACGTTTCCTCTTTTTTTTTTCTAATTTTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCAAAAACATTTTCTATTTTTTTTTTTTTTTGGAGCAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTCCAGTGGCACGATCATAGCTCACTGCTGCCTCAACCTCCTGGGCTCAAGGAATCTTCCTACCTCAGCCCCCCTAGTTGCTGGGACCACAGGTGCACACCATCATGTCCTGCTTGTTTTTATTTTTATTTTTTGTAGAGACAGGGTCTGGCTATGTTGCCCAGGCTGGTCTGGAATTCCTGGGCTCAAGCGATCTGCCCACCTCAGCCTTGCAAAGTGCCAGGATGACAGGTGTGGGCACCCAGCCAACCAAGAACATTTTCTGTTTTGTTTATTTATTTATTTATTTATTTTGGTTTTTTGGGTGGGTTTTTTTGCTTTTTGTTTATTTGATTTTTTGGAGACAGGGTCTCACTCTAACACCCAGGCTGGAGTGCAATGGCACAATCACAGCTCACTGCACCATTGACCTCCAGACTCCGATGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCATGTATCACCATGCTGGGCTAAATTTTTTGTATTTTTTATAGAGACGAGTTTTTGCCATGTTGCCCAGGCTGGTCTCAAAGTATTGGGCTCAAGTGATCTGCCTGCCTCTGACTCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTTCCTGGTCATAAGAACATTTTTATCACCCCAGAAAGAAGCCCTGTCCCCATCAGCAGTCACTTCCCACTTCCCC
Task1_train_26923
A variant affecting Chromosome 19, within the gene SLC5A5 (solute carrier family 5 member 5), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Thyroid dyshormonogenesis 1
TGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCCGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCATATGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGTCAGGGTGGTCTCAAACCCCTGACCTCAGATGATCCGCCTGCCTTGGCCTCCCAGGGTGTTAGGATTACAGGCCTGAGCCACCACGCCCGGCCTATGTTTAACTTTTTGAGGAACTACCAGACTGTTTTCCACAGCGGCCACATCATTTTACATTCCGACCAGCAACATATGAGGATTCTAACTTCTCCACGTCCTCGCCAATACTCATTATTCTCCATCCTAGTGGGTGTGAAGTGATACCTCACTGTGGTTTTGATTTGCATTTCCCTGATGAATAATGATGTTGAGCATCTTTCTTTTCATTGGCCATTTGTGCATCTTCTTTGGAGAAATGTCTATTCAAACCCTTTGCCCATCCAGCCTGGGTAACATAGAAAGACCCTATCTCTATAAAAATAAAAATGAAAAAATTAGCTGGGCATGGTGGTGCACACTTGTAGTCCCAGCTCCTTGGGAGGCTGAGGCAAAGAGGATCGCTTGAGCCTGGGGGGCCAAGGCTGCAGTGAAGCATGATCCCACCACTGCACTCCATCCTAGGCAACAGAGCAAGACCCTGCCTCAAATTAAAAAACAAACAAACAAAAAAACACCCTTTGCCCATTTTTAAATTGGGTGATTTGTCTTTTTATTGTTGAGTTATAATTTACATATTTTTATATCTTTATGTATTCTGGGTACAAGCCCCTGATCAGATGTATAATTTGCATGTGATATTTTCTCCCATTCTGTAGGTTGTCTTCATTCTCTCGATAGAATCCTTTGATGCACAGAAGTTTTTAATTCTTTTTTTTGGTGGGCGGATGGAGTCTAACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCCACCTCAGCCTCGTGAGTAGCTGTGACTACAGGTGCACACCACTATGCCAGGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGCCTGGTTTCAACTCCTGACCTCAGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCAACATGCCTGGCCAGAAGTTTTTAATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACTGGCACCCGCCATCAGGCCTGGCTAATTTTTTATTATTTTTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCCAGCCAGTTTTTAATTTTTGATGAAGTCCAATTGATTTATTTTTTTCTTTGGTGGCTTTTGCTTTTGGCGTCATATCTAAGAAACAATTGCAGTCACGAAGATTCCCACCTATGTTTTCTTCTGAGAGTTTAATTTGGTTTGATTTTGAGGGTGACAGGGAGCCACAGAGGGTGACGGGCAGCAGCAGGTGATCTGAGTTACATTTTAGTAATGTGCCCTTTGGCTGTGTGTGGAGGACGTCTAGGGTGGGGATGGGATACCTGGAGGGAAGGAACATTGGCTACTGCACAGATCTGGGCAGACAGTAATGGAGGTCTGTGCTAGGCCATGGCAGTTGGGGGAAGGAAGCAGGGGGTGAGGTTGGAACAGCTTTTGAGTGCAGGCAGGGGATAAAAGAGGAGGTTCAAGTCTGTCTCTCCCAACCTGCAGCTCAGGAATGGACGCCAGCCGACCCGCCTTAGCTGACAGCTTCTATGCCATCTCCTATCTCTATTACGGTGCCCTGGGCACGCTGACCACTGTGCTGTGCGGAGCCCTCATCAGCTGCCTGACAGGTAGGTAAACAGAGCATGTGGCCTCAGAGGTCATCCCATTCATCTCTCTGCCTCAAGGCTCCACCCAGCAGGGAGGGGAGAAAGGACGCTCCCATTGGCCAAACTGCCACTGTGTGCTGTACACATTTGTACCTTATTATTATTATTATTATTATTATTATTATCATCATCATCATCATCATCATCATCATTTTTGAGATAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGTTCATTGCAACCTCCACCTCCCAGATTCAAGCGATTCTCATGTCACAGCCTCCCGAGTAGCTGGGATTACAAGTGTGTGCCGCCATGCTTGGCTAATTTTGCATTTTTAGTAGAGACGGAGTTTCGCCATGTGTCTCGAACTCCTGGGCTCAAGTGATCCGCCCACCTCGGCCTCGCAAAGTTCTGGGATTATAGGTGTGAGCCACTGCACCTGGGCTGTACCTATTTTTTTAAAAGGAAAAAAAAAGTTTGTGAGGAAAAAAGAAGTGTGTGTGTATATATACACATACATACACACTTTTATGTGTATATATACATAAAAGAAATTATGAATATATATAAAAATTATGACTATATATATACATAAAAGAAAGTGTATATATATATAGTTTCTTTTAAAGGGACGGGGTCGACTGGGCGTAGTGGCTCATGCCTGTTATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAATGCCAGCTACTTGGGAGGCTGAGGTAAGGGAATCGCTTGATCCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTGCGTCACTGCACTCCAGCCTGGGCAAGAGAGTGAGACTCCATCTAAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAGAGAGAGAGAGAGAAGGAGAGAAAGAGAGAGAGAAAGAAAAGAGACAGGTCTCACTGTTACCCAGACTGGAGTGCAGTGGCACAATCATGGCTCACTGCAACCTTGAACTCCTGAGCTGAAAGCAATCCTCCCACCTCATCCTCCCGAGTAGCTGAGACTACAGGTGCGCGCCAACGTGCCCGGCTCACATTTACACCCTTTAAAGCTATGTTGCTTTCTTGACAACCCTGCACCTCTCAGAGCTTGCCCTATTTTGCAGAGGCAGAAACGGAGGCATTGCCTGCAACTCCTCTCCCCAACAAGATTAAGTCCTCAGTAGAGGATATGGGTTGGGGCGGGCGGCGCTATCCCTGGTGCTGAAATATCTTCTAAAGCTGCCGGTGACTCCGCACTTGTTAGGGAATTCTAAATTCCACGGAAAAGTAGAAGGAGACAAAGAGGGGAAAGTCAGTAGTGATAACAGTACCTGCTCACACTTCTTGAGTCTCAGACTTCACAGTCATCAGGCCTTTATCGAGTCCTCCTCTGTGCTGGACGCTATTTTAGGCACTGGGGATGCAGCAGTGAATGGAACCGTGTGCTGGACCCTCCCAGCCATCCATTAATGTCTTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTTTCACTCTGGTCGCCCAGGCTGGAGTGCAATGGTGCGATGTTGGCTCACTGCAACCTCTGACTCCCGGGTTCAAGCAATTCTCTTACCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGCCCACCCCCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCATGTTGGCCAGACTAGTCTCGAACTCCTGACGTCAAGTGATCCCCTGCCTTGGTCTTCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGTGCCCAACCTCCAATGATGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTAGAAACAGGGTCTCACTCTGTCACCAAGCTGGAGTGCAGTGGCACAATGACGGCTCACTGCAGCCTCGAC
TGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCCGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCATATGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGTCAGGGTGGTCTCAAACCCCTGACCTCAGATGATCCGCCTGCCTTGGCCTCCCAGGGTGTTAGGATTACAGGCCTGAGCCACCACGCCCGGCCTATGTTTAACTTTTTGAGGAACTACCAGACTGTTTTCCACAGCGGCCACATCATTTTACATTCCGACCAGCAACATATGAGGATTCTAACTTCTCCACGTCCTCGCCAATACTCATTATTCTCCATCCTAGTGGGTGTGAAGTGATACCTCACTGTGGTTTTGATTTGCATTTCCCTGATGAATAATGATGTTGAGCATCTTTCTTTTCATTGGCCATTTGTGCATCTTCTTTGGAGAAATGTCTATTCAAACCCTTTGCCCATCCAGCCTGGGTAACATAGAAAGACCCTATCTCTATAAAAATAAAAATGAAAAAATTAGCTGGGCATGGTGGTGCACACTTGTAGTCCCAGCTCCTTGGGAGGCTGAGGCAAAGAGGATCGCTTGAGCCTGGGGGGCCAAGGCTGCAGTGAAGCATGATCCCACCACTGCACTCCATCCTAGGCAACAGAGCAAGACCCTGCCTCAAATTAAAAAACAAACAAACAAAAAAACACCCTTTGCCCATTTTTAAATTGGGTGATTTGTCTTTTTATTGTTGAGTTATAATTTACATATTTTTATATCTTTATGTATTCTGGGTACAAGCCCCTGATCAGATGTATAATTTGCATGTGATATTTTCTCCCATTCTGTAGGTTGTCTTCATTCTCTCGATAGAATCCTTTGATGCACAGAAGTTTTTAATTCTTTTTTTTGGTGGGCGGATGGAGTCTAACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCCACCTCAGCCTCGTGAGTAGCTGTGACTACAGGTGCACACCACTATGCCAGGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGCCTGGTTTCAACTCCTGACCTCAGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCAACATGCCTGGCCAGAAGTTTTTAATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACTGGCACCCGCCATCAGGCCTGGCTAATTTTTTATTATTTTTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCCAGCCAGTTTTTAATTTTTGATGAAGTCCAATTGATTTATTTTTTTCTTTGGTGGCTTTTGCTTTTGGCGTCATATCTAAGAAACAATTGCAGTCACGAAGATTCCCACCTATGTTTTCTTCTGAGAGTTTAATTTGGTTTGATTTTGAGGGTGACAGGGAGCCACAGAGGGTGACGGGCAGCAGCAGGTGATCTGAGTTACATTTTAGTAATGTGCCCTTTGGCTGTGTGTGGAGGACGTCTAGGGTGGGGATGGGATACCTGGAGGGAAGGAACATTGGCTACTGCACAGATCTGGGCAGACAGTAATGGAGGTCTGTGCTAGGCCATGGCAGTTGGGGGAAGGAAGCAGGGGGTGAGGTTGGAACAGCTTTTGAGTGCAGGCAGGGGATAAAAGAGGAGGTTCAAGTCTGTCTCTCCCAACCTGCAGCTCAGGAATGGACGCCAGCCGACCCGCCTTAGCTGACAGCTTCTATGCCATCTCCTATCTCTATTACGGTGCCCTGGGCACGCTGACCACTGTGCTGTGCGAAGCCCTCATCAGCTGCCTGACAGGTAGGTAAACAGAGCATGTGGCCTCAGAGGTCATCCCATTCATCTCTCTGCCTCAAGGCTCCACCCAGCAGGGAGGGGAGAAAGGACGCTCCCATTGGCCAAACTGCCACTGTGTGCTGTACACATTTGTACCTTATTATTATTATTATTATTATTATTATTATCATCATCATCATCATCATCATCATCATTTTTGAGATAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGTTCATTGCAACCTCCACCTCCCAGATTCAAGCGATTCTCATGTCACAGCCTCCCGAGTAGCTGGGATTACAAGTGTGTGCCGCCATGCTTGGCTAATTTTGCATTTTTAGTAGAGACGGAGTTTCGCCATGTGTCTCGAACTCCTGGGCTCAAGTGATCCGCCCACCTCGGCCTCGCAAAGTTCTGGGATTATAGGTGTGAGCCACTGCACCTGGGCTGTACCTATTTTTTTAAAAGGAAAAAAAAAGTTTGTGAGGAAAAAAGAAGTGTGTGTGTATATATACACATACATACACACTTTTATGTGTATATATACATAAAAGAAATTATGAATATATATAAAAATTATGACTATATATATACATAAAAGAAAGTGTATATATATATAGTTTCTTTTAAAGGGACGGGGTCGACTGGGCGTAGTGGCTCATGCCTGTTATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAATGCCAGCTACTTGGGAGGCTGAGGTAAGGGAATCGCTTGATCCTGGGAGATGGAGGTTGCAGTGAGCCAAGATTGCGTCACTGCACTCCAGCCTGGGCAAGAGAGTGAGACTCCATCTAAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAGAGAGAGAGAGAGAAGGAGAGAAAGAGAGAGAGAAAGAAAAGAGACAGGTCTCACTGTTACCCAGACTGGAGTGCAGTGGCACAATCATGGCTCACTGCAACCTTGAACTCCTGAGCTGAAAGCAATCCTCCCACCTCATCCTCCCGAGTAGCTGAGACTACAGGTGCGCGCCAACGTGCCCGGCTCACATTTACACCCTTTAAAGCTATGTTGCTTTCTTGACAACCCTGCACCTCTCAGAGCTTGCCCTATTTTGCAGAGGCAGAAACGGAGGCATTGCCTGCAACTCCTCTCCCCAACAAGATTAAGTCCTCAGTAGAGGATATGGGTTGGGGCGGGCGGCGCTATCCCTGGTGCTGAAATATCTTCTAAAGCTGCCGGTGACTCCGCACTTGTTAGGGAATTCTAAATTCCACGGAAAAGTAGAAGGAGACAAAGAGGGGAAAGTCAGTAGTGATAACAGTACCTGCTCACACTTCTTGAGTCTCAGACTTCACAGTCATCAGGCCTTTATCGAGTCCTCCTCTGTGCTGGACGCTATTTTAGGCACTGGGGATGCAGCAGTGAATGGAACCGTGTGCTGGACCCTCCCAGCCATCCATTAATGTCTTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTTTCACTCTGGTCGCCCAGGCTGGAGTGCAATGGTGCGATGTTGGCTCACTGCAACCTCTGACTCCCGGGTTCAAGCAATTCTCTTACCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGCCCACCCCCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCATGTTGGCCAGACTAGTCTCGAACTCCTGACGTCAAGTGATCCCCTGCCTTGGTCTTCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGTGCCCAACCTCCAATGATGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTAGAAACAGGGTCTCACTCTGTCACCAAGCTGGAGTGCAGTGGCACAATGACGGCTCACTGCAGCCTCGAC
Task1_train_26924
This genomic variant is located on Chromosome 19, within the IL12RB1 (interleukin 12 receptor subunit beta 1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
GCATCCCCAGGGATAACTGCCACCTGTAATCTCATGTTGCCTAAGGTTTTTTGTTTGTTTGTTTGTTCGTTTGCTTTTTGAGACGAAGTCTCACTCTATTACCTAGGCTGGAGTGCACTGGTGCGATCTCGGCTCACTGCAATCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGTTCTTGAACTCCTGACCTTGTGATCCACTTGCCTCGGCCTCCCAAACTGCTGGAATTATAGGCGTGAGCCACTGCGCCTGGCCTCTAAGTTCCTTTTTGAATGCAAATGTATTTCTCTGCATGGTTTTGTTGTTGTTGCTGTTGTTTTATAGACTAGAGACAGAGTCTCGTTTTGATTCCCAGGCTTGTCTCAAACTCCTGGCCTCAAACAATCCTCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAACCACAGCGCCAGGCCTTTCTGCATGGTTTGAAACCCTCTCACTCATTTTCCTGTTGCCCAGGCTCAGGGCAGCAGCTGTTTAGTACACCCTGCCACCTGCAGGTGACATTGTCCTTGAGACACCGTGAGGTTCAGCCTGATGATTCTCACTTGATAAAGCCCTGTAGTGGGCTGAGCGCAGTGGCTCATACCTGGAATTCTAGCACTTTGGGAGACCGTGGTGGGAGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCGGGCAAACATGGCGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGTGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACAGTCTCAAAACAAAACAAAAAATAGCAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAACCGGGCGTGGTTGCAGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGACAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAACAACAAAAAACAACAAACAAACAAACAAAAAAAACAGCAGCAAAAAACCCTAAAGTGGGTGCAGCAAGACCGGATGCCACATTGTCAGGGTTTGAGCACCCATTTCTCCCTCTGCCTTATTTCTAACACTCACCACCTTGTTTCTAATACCTGCTGCCTTATTTCTTTTTCCATTTTATTTTATTATTACTTTTTTTTTTTTTTTTACTTTTTTTTGAGACAGAGTCTGGCCCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGATCCCTGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCCGCCACCACGCCCAGCTAATTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACGCCCAGCCCCATTTTATTTTATTTTTTAGAGATGGGGTCTCACTATGTTGCCCGGGCTGGTCTCAAACCACTGGCCTCAAGTGATCCTCCCGCCTCAGCCTTCTGAGCAGCTGGAACTACAGGTGTGCACCACCACCTCCGGCTGTTGCCTTATTTCTAATGCTTGCCCCTGTTCCTGTACTCAGAGTGATCTTACCAGGGGGAACGCACACGGGGCTGCTCCACTTGCTCCAGGAACTTCCTTGGCTCCCCAGCTGCCGTCGTCGGAGCTGGAATTCCTGGGCCACATTCATCTCCAGGGGGCAGAGGCAGGACTCTGGGGAGAGGCAGGTCGAACATCAGGCCGTAAGAATTGTCCAGGACTTGGCACCAGTCACTTAACCATCATGTGCTTATTGAGCTCCAACTGTGTACAGAGCCACGTGCTGGGTCCTGGGGGCTCAGCAGAAGCAGGCCAGGCCCTGTCCTCTTAGGGCCTCCAGGATCACCCACGTCCATCCCTGCCCCTCAGTTCAAGTCCTGGCTGCGGCCATCCCTTCGGTCGTGACCTTGGCCAAAGGCTTCTCACCCCCTCCAAGTCGTGATTTGTTTCCCCACCTGCAATTTGGAAAGAATCCAATACTGAACTATGGGGCAGGGTAAGAGGCATACAAAAAAATTCAGCATTGGACCTGGCATACAGTAGGTGCTCAATTAATGCCAATTTGCTGCAGCTGTTGTTGTCATTACTATTATTATTCTCACCAGTATCATCATCCTGAGGTCCGCAGTCGCCCTAGAATAAAAACATATTCATATATTGTTTTGCATTTTGGTGCTGAAAAATATTTGCTGTTTTACAATTAGTTATTTATTTACTTATTTATCTGAGACACGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGCAATCATGGCTTATTGAAGCCTCAACCTCCCAGGGCTCAGGTGATCCTCCCGCCTCAGTCTCCTGAGTAGTTGGGACTACAGGCATGCACCATCACACTCAGCTAATTTTTGCATTTTTGGTAGAGACGGGATTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCCACCCCAACTCGGCCTCCCAAAGCACTGGGATTACAGGCGTGAGCCACCGCACCTCGCTAAATTTTTTTAAATTAAAGACCATACTTCCAGGGATTATTTCTATCGTTAATTACTAGAGAACCTTCTCTAGGTTCAAACCTTCTTTAGGAACATATAAAGCAGTAAAAAATTATTATAACTAAATTTTAAAAATTAATAATTATTTTACTAAACACAATGTGGGATCCTGGATTGAATCTGGGAGCAGAAAAAAGACATTCCTGGAAAAATTGGTGACATTCAAATAATGCCTGGAGTTTATGTAAGACATTAACATTAGAGGAGTTTGGGTAAAGGATATATGGGCGTTCTCTGCACCAGTTTATATAGTAACTTTTCTGAAAATCGAAGGTTATTCCAAAAGAAAAAATTTATTTTAAAAAATTTTAGTGGGAGCAAGGCGTGGTGGTTCATGCCTGTATTCCCAGCACTTTGGAAGGCCAAGGTGGGCGGATCACCTGAGGAGTTTGAGACCAGCCTGGCCCACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGCGTGTGGTAGTGGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGACAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCTCAGAAAAAAAAAAAGAAAAAGAAAAAAACCACCTCAGGGGCTAGAGTGGGGGCTGGTTGGGAGCGGGGACAGATGCAGAGATGGTGAGACTGATTTGGGGGTGAAGGTGCCCTGGAGAGGCCCGTGTCCACCCTGGACTTGGGAAACAAACTCACCAACTTCCATGGGCTGCTGGGTGTCCGGTGCCGGAACTGCACCTCAGCACCAACCTGGTTATCCGGGGTCTCCCACTCCATACGCAGCTGCCCGGCCAACTTGGACACCTTGATGTCTCCCAGAGGAGGCTCATATTTAACTGGAAGCAGAGGTAGGGATTGGCGAGGGGCAGCCCACACGTATGTGAGTTAATGGGCCCTGAAAATCCACCCTGTCCAGGGTAAGCAACTGAATCCCTAAATATGAATTAGGGGACACTTGCAGGTCCCAGCTAAGCCTGGTATATTATGATCAAAAAGTCAAGATTTATACACAAGCCACATACGGTGGCTCACCCTGTAAT
GCATCCCCAGGGATAACTGCCACCTGTAATCTCATGTTGCCTAAGGTTTTTTGTTTGTTTGTTTGTTCGTTTGCTTTTTGAGACGAAGTCTCACTCTATTACCTAGGCTGGAGTGCACTGGTGCGATCTCGGCTCACTGCAATCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGTTCTTGAACTCCTGACCTTGTGATCCACTTGCCTCGGCCTCCCAAACTGCTGGAATTATAGGCGTGAGCCACTGCGCCTGGCCTCTAAGTTCCTTTTTGAATGCAAATGTATTTCTCTGCATGGTTTTGTTGTTGTTGCTGTTGTTTTATAGACTAGAGACAGAGTCTCGTTTTGATTCCCAGGCTTGTCTCAAACTCCTGGCCTCAAACAATCCTCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAACCACAGCGCCAGGCCTTTCTGCATGGTTTGAAACCCTCTCACTCATTTTCCTGTTGCCCAGGCTCAGGGCAGCAGCTGTTTAGTACACCCTGCCACCTGCAGGTGACATTGTCCTTGAGACACCGTGAGGTTCAGCCTGATGATTCTCACTTGATAAAGCCCTGTAGTGGGCTGAGCGCAGTGGCTCATACCTGGAATTCTAGCACTTTGGGAGACCGTGGTGGGAGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCGGGCAAACATGGCGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGTGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACAGTCTCAAAACAAAACAAAAAATAGCAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAACCGGGCGTGGTTGCAGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGACAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAACAACAAAAAACAACAAACAAACAAACAAAAAAAACAGCAGCAAAAAACCCTAAAGTGGGTGCAGCAAGACCGGATGCCACATTGTCAGGGTTTGAGCACCCATTTCTCCCTCTGCCTTATTTCTAACACTCACCACCTTGTTTCTAATACCTGCTGCCTTATTTCTTTTTCCATTTTATTTTATTATTACTTTTTTTTTTTTTTTTACTTTTTTTTGAGACAGAGTCTGGCCCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGATCCCTGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCCGCCACCACGCCCAGCTAATTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACGCCCAGCCCCATTTTATTTTATTTTTTAGAGATGGGGTCTCACTATGTTGCCCGGGCTGGTCTCAAACCACTGGCCTCAAGTGATCCTCCCGCCTCAGCCTTCTGAGCAGCTGGAACTACAGGTGTGCACCACCACCTCCGGCTGTTGCCTTATTTCTAATGCTTGCCCCTGTTCCTGTACTCAGAGTGATCTTACCAGGGGGAACGCACACGGGGCTGCTCCACTTGCTCCAGGAACTTCCTTGGCTCCCCAGCTGCCATCGTCGGAGCTGGAATTCCTGGGCCACATTCATCTCCAGGGGGCAGAGGCAGGACTCTGGGGAGAGGCAGGTCGAACATCAGGCCGTAAGAATTGTCCAGGACTTGGCACCAGTCACTTAACCATCATGTGCTTATTGAGCTCCAACTGTGTACAGAGCCACGTGCTGGGTCCTGGGGGCTCAGCAGAAGCAGGCCAGGCCCTGTCCTCTTAGGGCCTCCAGGATCACCCACGTCCATCCCTGCCCCTCAGTTCAAGTCCTGGCTGCGGCCATCCCTTCGGTCGTGACCTTGGCCAAAGGCTTCTCACCCCCTCCAAGTCGTGATTTGTTTCCCCACCTGCAATTTGGAAAGAATCCAATACTGAACTATGGGGCAGGGTAAGAGGCATACAAAAAAATTCAGCATTGGACCTGGCATACAGTAGGTGCTCAATTAATGCCAATTTGCTGCAGCTGTTGTTGTCATTACTATTATTATTCTCACCAGTATCATCATCCTGAGGTCCGCAGTCGCCCTAGAATAAAAACATATTCATATATTGTTTTGCATTTTGGTGCTGAAAAATATTTGCTGTTTTACAATTAGTTATTTATTTACTTATTTATCTGAGACACGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGCAATCATGGCTTATTGAAGCCTCAACCTCCCAGGGCTCAGGTGATCCTCCCGCCTCAGTCTCCTGAGTAGTTGGGACTACAGGCATGCACCATCACACTCAGCTAATTTTTGCATTTTTGGTAGAGACGGGATTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCCACCCCAACTCGGCCTCCCAAAGCACTGGGATTACAGGCGTGAGCCACCGCACCTCGCTAAATTTTTTTAAATTAAAGACCATACTTCCAGGGATTATTTCTATCGTTAATTACTAGAGAACCTTCTCTAGGTTCAAACCTTCTTTAGGAACATATAAAGCAGTAAAAAATTATTATAACTAAATTTTAAAAATTAATAATTATTTTACTAAACACAATGTGGGATCCTGGATTGAATCTGGGAGCAGAAAAAAGACATTCCTGGAAAAATTGGTGACATTCAAATAATGCCTGGAGTTTATGTAAGACATTAACATTAGAGGAGTTTGGGTAAAGGATATATGGGCGTTCTCTGCACCAGTTTATATAGTAACTTTTCTGAAAATCGAAGGTTATTCCAAAAGAAAAAATTTATTTTAAAAAATTTTAGTGGGAGCAAGGCGTGGTGGTTCATGCCTGTATTCCCAGCACTTTGGAAGGCCAAGGTGGGCGGATCACCTGAGGAGTTTGAGACCAGCCTGGCCCACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGCGTGTGGTAGTGGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGACAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCTCAGAAAAAAAAAAAGAAAAAGAAAAAAACCACCTCAGGGGCTAGAGTGGGGGCTGGTTGGGAGCGGGGACAGATGCAGAGATGGTGAGACTGATTTGGGGGTGAAGGTGCCCTGGAGAGGCCCGTGTCCACCCTGGACTTGGGAAACAAACTCACCAACTTCCATGGGCTGCTGGGTGTCCGGTGCCGGAACTGCACCTCAGCACCAACCTGGTTATCCGGGGTCTCCCACTCCATACGCAGCTGCCCGGCCAACTTGGACACCTTGATGTCTCCCAGAGGAGGCTCATATTTAACTGGAAGCAGAGGTAGGGATTGGCGAGGGGCAGCCCACACGTATGTGAGTTAATGGGCCCTGAAAATCCACCCTGTCCAGGGTAAGCAACTGAATCCCTAAATATGAATTAGGGGACACTTGCAGGTCCCAGCTAAGCCTGGTATATTATGATCAAAAAGTCAAGATTTATACACAAGCCACATACGGTGGCTCACCCTGTAAT
Task1_train_26925
This mutation is located in gene IL12RB1 (interleukin 12 receptor subunit beta 1) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
ATCCCCAGGGATAACTGCCACCTGTAATCTCATGTTGCCTAAGGTTTTTTGTTTGTTTGTTTGTTCGTTTGCTTTTTGAGACGAAGTCTCACTCTATTACCTAGGCTGGAGTGCACTGGTGCGATCTCGGCTCACTGCAATCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGTTCTTGAACTCCTGACCTTGTGATCCACTTGCCTCGGCCTCCCAAACTGCTGGAATTATAGGCGTGAGCCACTGCGCCTGGCCTCTAAGTTCCTTTTTGAATGCAAATGTATTTCTCTGCATGGTTTTGTTGTTGTTGCTGTTGTTTTATAGACTAGAGACAGAGTCTCGTTTTGATTCCCAGGCTTGTCTCAAACTCCTGGCCTCAAACAATCCTCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAACCACAGCGCCAGGCCTTTCTGCATGGTTTGAAACCCTCTCACTCATTTTCCTGTTGCCCAGGCTCAGGGCAGCAGCTGTTTAGTACACCCTGCCACCTGCAGGTGACATTGTCCTTGAGACACCGTGAGGTTCAGCCTGATGATTCTCACTTGATAAAGCCCTGTAGTGGGCTGAGCGCAGTGGCTCATACCTGGAATTCTAGCACTTTGGGAGACCGTGGTGGGAGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCGGGCAAACATGGCGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGTGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACAGTCTCAAAACAAAACAAAAAATAGCAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAACCGGGCGTGGTTGCAGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGACAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAACAACAAAAAACAACAAACAAACAAACAAAAAAAACAGCAGCAAAAAACCCTAAAGTGGGTGCAGCAAGACCGGATGCCACATTGTCAGGGTTTGAGCACCCATTTCTCCCTCTGCCTTATTTCTAACACTCACCACCTTGTTTCTAATACCTGCTGCCTTATTTCTTTTTCCATTTTATTTTATTATTACTTTTTTTTTTTTTTTTACTTTTTTTTGAGACAGAGTCTGGCCCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGATCCCTGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCCGCCACCACGCCCAGCTAATTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACGCCCAGCCCCATTTTATTTTATTTTTTAGAGATGGGGTCTCACTATGTTGCCCGGGCTGGTCTCAAACCACTGGCCTCAAGTGATCCTCCCGCCTCAGCCTTCTGAGCAGCTGGAACTACAGGTGTGCACCACCACCTCCGGCTGTTGCCTTATTTCTAATGCTTGCCCCTGTTCCTGTACTCAGAGTGATCTTACCAGGGGGAACGCACACGGGGCTGCTCCACTTGCTCCAGGAACTTCCTTGGCTCCCCAGCTGCCGTCGTCGGAGCTGGAATTCCTGGGCCACATTCATCTCCAGGGGGCAGAGGCAGGACTCTGGGGAGAGGCAGGTCGAACATCAGGCCGTAAGAATTGTCCAGGACTTGGCACCAGTCACTTAACCATCATGTGCTTATTGAGCTCCAACTGTGTACAGAGCCACGTGCTGGGTCCTGGGGGCTCAGCAGAAGCAGGCCAGGCCCTGTCCTCTTAGGGCCTCCAGGATCACCCACGTCCATCCCTGCCCCTCAGTTCAAGTCCTGGCTGCGGCCATCCCTTCGGTCGTGACCTTGGCCAAAGGCTTCTCACCCCCTCCAAGTCGTGATTTGTTTCCCCACCTGCAATTTGGAAAGAATCCAATACTGAACTATGGGGCAGGGTAAGAGGCATACAAAAAAATTCAGCATTGGACCTGGCATACAGTAGGTGCTCAATTAATGCCAATTTGCTGCAGCTGTTGTTGTCATTACTATTATTATTCTCACCAGTATCATCATCCTGAGGTCCGCAGTCGCCCTAGAATAAAAACATATTCATATATTGTTTTGCATTTTGGTGCTGAAAAATATTTGCTGTTTTACAATTAGTTATTTATTTACTTATTTATCTGAGACACGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGCAATCATGGCTTATTGAAGCCTCAACCTCCCAGGGCTCAGGTGATCCTCCCGCCTCAGTCTCCTGAGTAGTTGGGACTACAGGCATGCACCATCACACTCAGCTAATTTTTGCATTTTTGGTAGAGACGGGATTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCCACCCCAACTCGGCCTCCCAAAGCACTGGGATTACAGGCGTGAGCCACCGCACCTCGCTAAATTTTTTTAAATTAAAGACCATACTTCCAGGGATTATTTCTATCGTTAATTACTAGAGAACCTTCTCTAGGTTCAAACCTTCTTTAGGAACATATAAAGCAGTAAAAAATTATTATAACTAAATTTTAAAAATTAATAATTATTTTACTAAACACAATGTGGGATCCTGGATTGAATCTGGGAGCAGAAAAAAGACATTCCTGGAAAAATTGGTGACATTCAAATAATGCCTGGAGTTTATGTAAGACATTAACATTAGAGGAGTTTGGGTAAAGGATATATGGGCGTTCTCTGCACCAGTTTATATAGTAACTTTTCTGAAAATCGAAGGTTATTCCAAAAGAAAAAATTTATTTTAAAAAATTTTAGTGGGAGCAAGGCGTGGTGGTTCATGCCTGTATTCCCAGCACTTTGGAAGGCCAAGGTGGGCGGATCACCTGAGGAGTTTGAGACCAGCCTGGCCCACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGCGTGTGGTAGTGGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGACAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCTCAGAAAAAAAAAAAGAAAAAGAAAAAAACCACCTCAGGGGCTAGAGTGGGGGCTGGTTGGGAGCGGGGACAGATGCAGAGATGGTGAGACTGATTTGGGGGTGAAGGTGCCCTGGAGAGGCCCGTGTCCACCCTGGACTTGGGAAACAAACTCACCAACTTCCATGGGCTGCTGGGTGTCCGGTGCCGGAACTGCACCTCAGCACCAACCTGGTTATCCGGGGTCTCCCACTCCATACGCAGCTGCCCGGCCAACTTGGACACCTTGATGTCTCCCAGAGGAGGCTCATATTTAACTGGAAGCAGAGGTAGGGATTGGCGAGGGGCAGCCCACACGTATGTGAGTTAATGGGCCCTGAAAATCCACCCTGTCCAGGGTAAGCAACTGAATCCCTAAATATGAATTAGGGGACACTTGCAGGTCCCAGCTAAGCCTGGTATATTATGATCAAAAAGTCAAGATTTATACACAAGCCACATACGGTGGCTCACCCTGTAATTC
ATCCCCAGGGATAACTGCCACCTGTAATCTCATGTTGCCTAAGGTTTTTTGTTTGTTTGTTTGTTCGTTTGCTTTTTGAGACGAAGTCTCACTCTATTACCTAGGCTGGAGTGCACTGGTGCGATCTCGGCTCACTGCAATCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGTTCTTGAACTCCTGACCTTGTGATCCACTTGCCTCGGCCTCCCAAACTGCTGGAATTATAGGCGTGAGCCACTGCGCCTGGCCTCTAAGTTCCTTTTTGAATGCAAATGTATTTCTCTGCATGGTTTTGTTGTTGTTGCTGTTGTTTTATAGACTAGAGACAGAGTCTCGTTTTGATTCCCAGGCTTGTCTCAAACTCCTGGCCTCAAACAATCCTCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAACCACAGCGCCAGGCCTTTCTGCATGGTTTGAAACCCTCTCACTCATTTTCCTGTTGCCCAGGCTCAGGGCAGCAGCTGTTTAGTACACCCTGCCACCTGCAGGTGACATTGTCCTTGAGACACCGTGAGGTTCAGCCTGATGATTCTCACTTGATAAAGCCCTGTAGTGGGCTGAGCGCAGTGGCTCATACCTGGAATTCTAGCACTTTGGGAGACCGTGGTGGGAGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCGGGCAAACATGGCGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGTGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACAGTCTCAAAACAAAACAAAAAATAGCAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAACCGGGCGTGGTTGCAGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGACAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAACAACAAAAAACAACAAACAAACAAACAAAAAAAACAGCAGCAAAAAACCCTAAAGTGGGTGCAGCAAGACCGGATGCCACATTGTCAGGGTTTGAGCACCCATTTCTCCCTCTGCCTTATTTCTAACACTCACCACCTTGTTTCTAATACCTGCTGCCTTATTTCTTTTTCCATTTTATTTTATTATTACTTTTTTTTTTTTTTTTACTTTTTTTTGAGACAGAGTCTGGCCCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGATCCCTGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCCGCCACCACGCCCAGCTAATTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACGCCCAGCCCCATTTTATTTTATTTTTTAGAGATGGGGTCTCACTATGTTGCCCGGGCTGGTCTCAAACCACTGGCCTCAAGTGATCCTCCCGCCTCAGCCTTCTGAGCAGCTGGAACTACAGGTGTGCACCACCACCTCCGGCTGTTGCCTTATTTCTAATGCTTGCCCCTGTTCCTGTACTCAGAGTGATCTTACCAGGGGGAACGCACACGGGGCTGCTCCACTTGCTCCAGGAACTTCCTTGGCTCCCCAGCTGCCGTTGTCGGAGCTGGAATTCCTGGGCCACATTCATCTCCAGGGGGCAGAGGCAGGACTCTGGGGAGAGGCAGGTCGAACATCAGGCCGTAAGAATTGTCCAGGACTTGGCACCAGTCACTTAACCATCATGTGCTTATTGAGCTCCAACTGTGTACAGAGCCACGTGCTGGGTCCTGGGGGCTCAGCAGAAGCAGGCCAGGCCCTGTCCTCTTAGGGCCTCCAGGATCACCCACGTCCATCCCTGCCCCTCAGTTCAAGTCCTGGCTGCGGCCATCCCTTCGGTCGTGACCTTGGCCAAAGGCTTCTCACCCCCTCCAAGTCGTGATTTGTTTCCCCACCTGCAATTTGGAAAGAATCCAATACTGAACTATGGGGCAGGGTAAGAGGCATACAAAAAAATTCAGCATTGGACCTGGCATACAGTAGGTGCTCAATTAATGCCAATTTGCTGCAGCTGTTGTTGTCATTACTATTATTATTCTCACCAGTATCATCATCCTGAGGTCCGCAGTCGCCCTAGAATAAAAACATATTCATATATTGTTTTGCATTTTGGTGCTGAAAAATATTTGCTGTTTTACAATTAGTTATTTATTTACTTATTTATCTGAGACACGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGCAATCATGGCTTATTGAAGCCTCAACCTCCCAGGGCTCAGGTGATCCTCCCGCCTCAGTCTCCTGAGTAGTTGGGACTACAGGCATGCACCATCACACTCAGCTAATTTTTGCATTTTTGGTAGAGACGGGATTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCCACCCCAACTCGGCCTCCCAAAGCACTGGGATTACAGGCGTGAGCCACCGCACCTCGCTAAATTTTTTTAAATTAAAGACCATACTTCCAGGGATTATTTCTATCGTTAATTACTAGAGAACCTTCTCTAGGTTCAAACCTTCTTTAGGAACATATAAAGCAGTAAAAAATTATTATAACTAAATTTTAAAAATTAATAATTATTTTACTAAACACAATGTGGGATCCTGGATTGAATCTGGGAGCAGAAAAAAGACATTCCTGGAAAAATTGGTGACATTCAAATAATGCCTGGAGTTTATGTAAGACATTAACATTAGAGGAGTTTGGGTAAAGGATATATGGGCGTTCTCTGCACCAGTTTATATAGTAACTTTTCTGAAAATCGAAGGTTATTCCAAAAGAAAAAATTTATTTTAAAAAATTTTAGTGGGAGCAAGGCGTGGTGGTTCATGCCTGTATTCCCAGCACTTTGGAAGGCCAAGGTGGGCGGATCACCTGAGGAGTTTGAGACCAGCCTGGCCCACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGCGTGTGGTAGTGGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGACAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCTCAGAAAAAAAAAAAGAAAAAGAAAAAAACCACCTCAGGGGCTAGAGTGGGGGCTGGTTGGGAGCGGGGACAGATGCAGAGATGGTGAGACTGATTTGGGGGTGAAGGTGCCCTGGAGAGGCCCGTGTCCACCCTGGACTTGGGAAACAAACTCACCAACTTCCATGGGCTGCTGGGTGTCCGGTGCCGGAACTGCACCTCAGCACCAACCTGGTTATCCGGGGTCTCCCACTCCATACGCAGCTGCCCGGCCAACTTGGACACCTTGATGTCTCCCAGAGGAGGCTCATATTTAACTGGAAGCAGAGGTAGGGATTGGCGAGGGGCAGCCCACACGTATGTGAGTTAATGGGCCCTGAAAATCCACCCTGTCCAGGGTAAGCAACTGAATCCCTAAATATGAATTAGGGGACACTTGCAGGTCCCAGCTAAGCCTGGTATATTATGATCAAAAAGTCAAGATTTATACACAAGCCACATACGGTGGCTCACCCTGTAATTC
Task1_train_26926
This mutation is located in gene IL12RB1 (interleukin 12 receptor subunit beta 1) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
GTTTTTTGTTTGTTTGTTTGTTCGTTTGCTTTTTGAGACGAAGTCTCACTCTATTACCTAGGCTGGAGTGCACTGGTGCGATCTCGGCTCACTGCAATCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGTTCTTGAACTCCTGACCTTGTGATCCACTTGCCTCGGCCTCCCAAACTGCTGGAATTATAGGCGTGAGCCACTGCGCCTGGCCTCTAAGTTCCTTTTTGAATGCAAATGTATTTCTCTGCATGGTTTTGTTGTTGTTGCTGTTGTTTTATAGACTAGAGACAGAGTCTCGTTTTGATTCCCAGGCTTGTCTCAAACTCCTGGCCTCAAACAATCCTCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAACCACAGCGCCAGGCCTTTCTGCATGGTTTGAAACCCTCTCACTCATTTTCCTGTTGCCCAGGCTCAGGGCAGCAGCTGTTTAGTACACCCTGCCACCTGCAGGTGACATTGTCCTTGAGACACCGTGAGGTTCAGCCTGATGATTCTCACTTGATAAAGCCCTGTAGTGGGCTGAGCGCAGTGGCTCATACCTGGAATTCTAGCACTTTGGGAGACCGTGGTGGGAGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCGGGCAAACATGGCGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGTGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACAGTCTCAAAACAAAACAAAAAATAGCAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAACCGGGCGTGGTTGCAGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGACAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAACAACAAAAAACAACAAACAAACAAACAAAAAAAACAGCAGCAAAAAACCCTAAAGTGGGTGCAGCAAGACCGGATGCCACATTGTCAGGGTTTGAGCACCCATTTCTCCCTCTGCCTTATTTCTAACACTCACCACCTTGTTTCTAATACCTGCTGCCTTATTTCTTTTTCCATTTTATTTTATTATTACTTTTTTTTTTTTTTTTACTTTTTTTTGAGACAGAGTCTGGCCCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGATCCCTGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCCGCCACCACGCCCAGCTAATTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACGCCCAGCCCCATTTTATTTTATTTTTTAGAGATGGGGTCTCACTATGTTGCCCGGGCTGGTCTCAAACCACTGGCCTCAAGTGATCCTCCCGCCTCAGCCTTCTGAGCAGCTGGAACTACAGGTGTGCACCACCACCTCCGGCTGTTGCCTTATTTCTAATGCTTGCCCCTGTTCCTGTACTCAGAGTGATCTTACCAGGGGGAACGCACACGGGGCTGCTCCACTTGCTCCAGGAACTTCCTTGGCTCCCCAGCTGCCGTCGTCGGAGCTGGAATTCCTGGGCCACATTCATCTCCAGGGGGCAGAGGCAGGACTCTGGGGAGAGGCAGGTCGAACATCAGGCCGTAAGAATTGTCCAGGACTTGGCACCAGTCACTTAACCATCATGTGCTTATTGAGCTCCAACTGTGTACAGAGCCACGTGCTGGGTCCTGGGGGCTCAGCAGAAGCAGGCCAGGCCCTGTCCTCTTAGGGCCTCCAGGATCACCCACGTCCATCCCTGCCCCTCAGTTCAAGTCCTGGCTGCGGCCATCCCTTCGGTCGTGACCTTGGCCAAAGGCTTCTCACCCCCTCCAAGTCGTGATTTGTTTCCCCACCTGCAATTTGGAAAGAATCCAATACTGAACTATGGGGCAGGGTAAGAGGCATACAAAAAAATTCAGCATTGGACCTGGCATACAGTAGGTGCTCAATTAATGCCAATTTGCTGCAGCTGTTGTTGTCATTACTATTATTATTCTCACCAGTATCATCATCCTGAGGTCCGCAGTCGCCCTAGAATAAAAACATATTCATATATTGTTTTGCATTTTGGTGCTGAAAAATATTTGCTGTTTTACAATTAGTTATTTATTTACTTATTTATCTGAGACACGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGCAATCATGGCTTATTGAAGCCTCAACCTCCCAGGGCTCAGGTGATCCTCCCGCCTCAGTCTCCTGAGTAGTTGGGACTACAGGCATGCACCATCACACTCAGCTAATTTTTGCATTTTTGGTAGAGACGGGATTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCCACCCCAACTCGGCCTCCCAAAGCACTGGGATTACAGGCGTGAGCCACCGCACCTCGCTAAATTTTTTTAAATTAAAGACCATACTTCCAGGGATTATTTCTATCGTTAATTACTAGAGAACCTTCTCTAGGTTCAAACCTTCTTTAGGAACATATAAAGCAGTAAAAAATTATTATAACTAAATTTTAAAAATTAATAATTATTTTACTAAACACAATGTGGGATCCTGGATTGAATCTGGGAGCAGAAAAAAGACATTCCTGGAAAAATTGGTGACATTCAAATAATGCCTGGAGTTTATGTAAGACATTAACATTAGAGGAGTTTGGGTAAAGGATATATGGGCGTTCTCTGCACCAGTTTATATAGTAACTTTTCTGAAAATCGAAGGTTATTCCAAAAGAAAAAATTTATTTTAAAAAATTTTAGTGGGAGCAAGGCGTGGTGGTTCATGCCTGTATTCCCAGCACTTTGGAAGGCCAAGGTGGGCGGATCACCTGAGGAGTTTGAGACCAGCCTGGCCCACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGCGTGTGGTAGTGGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGACAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCTCAGAAAAAAAAAAAGAAAAAGAAAAAAACCACCTCAGGGGCTAGAGTGGGGGCTGGTTGGGAGCGGGGACAGATGCAGAGATGGTGAGACTGATTTGGGGGTGAAGGTGCCCTGGAGAGGCCCGTGTCCACCCTGGACTTGGGAAACAAACTCACCAACTTCCATGGGCTGCTGGGTGTCCGGTGCCGGAACTGCACCTCAGCACCAACCTGGTTATCCGGGGTCTCCCACTCCATACGCAGCTGCCCGGCCAACTTGGACACCTTGATGTCTCCCAGAGGAGGCTCATATTTAACTGGAAGCAGAGGTAGGGATTGGCGAGGGGCAGCCCACACGTATGTGAGTTAATGGGCCCTGAAAATCCACCCTGTCCAGGGTAAGCAACTGAATCCCTAAATATGAATTAGGGGACACTTGCAGGTCCCAGCTAAGCCTGGTATATTATGATCAAAAAGTCAAGATTTATACACAAGCCACATACGGTGGCTCACCCTGTAATTCCAGTATTTTGGGAGGCCAAGGCAGGAAGATCACTTAAGCCCAG
GTTTTTTGTTTGTTTGTTTGTTCGTTTGCTTTTTGAGACGAAGTCTCACTCTATTACCTAGGCTGGAGTGCACTGGTGCGATCTCGGCTCACTGCAATCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGTTCTTGAACTCCTGACCTTGTGATCCACTTGCCTCGGCCTCCCAAACTGCTGGAATTATAGGCGTGAGCCACTGCGCCTGGCCTCTAAGTTCCTTTTTGAATGCAAATGTATTTCTCTGCATGGTTTTGTTGTTGTTGCTGTTGTTTTATAGACTAGAGACAGAGTCTCGTTTTGATTCCCAGGCTTGTCTCAAACTCCTGGCCTCAAACAATCCTCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAACCACAGCGCCAGGCCTTTCTGCATGGTTTGAAACCCTCTCACTCATTTTCCTGTTGCCCAGGCTCAGGGCAGCAGCTGTTTAGTACACCCTGCCACCTGCAGGTGACATTGTCCTTGAGACACCGTGAGGTTCAGCCTGATGATTCTCACTTGATAAAGCCCTGTAGTGGGCTGAGCGCAGTGGCTCATACCTGGAATTCTAGCACTTTGGGAGACCGTGGTGGGAGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCGGGCAAACATGGCGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGTGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACAGTCTCAAAACAAAACAAAAAATAGCAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAACCGGGCGTGGTTGCAGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGACAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAACAACAAAAAACAACAAACAAACAAACAAAAAAAACAGCAGCAAAAAACCCTAAAGTGGGTGCAGCAAGACCGGATGCCACATTGTCAGGGTTTGAGCACCCATTTCTCCCTCTGCCTTATTTCTAACACTCACCACCTTGTTTCTAATACCTGCTGCCTTATTTCTTTTTCCATTTTATTTTATTATTACTTTTTTTTTTTTTTTTACTTTTTTTTGAGACAGAGTCTGGCCCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGATCCCTGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCCGCCACCACGCCCAGCTAATTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACGCCCAGCCCCATTTTATTTTATTTTTTAGAGATGGGGTCTCACTATGTTGCCCGGGCTGGTCTCAAACCACTGGCCTCAAGTGATCCTCCCGCCTCAGCCTTCTGAGCAGCTGGAACTACAGGTGTGCACCACCACCTCCGGCTGTTGCCTTATTTCTAATGCTTGCCCCTGTTCCTGTACTCAGAGTGATCTTACCAGGGGGAACGCACACGGGGCTGCTCCACTTGCTCCAGGAACTTCCTTGGCTCCCCAGCTGCCGTCGTCGGAGCTGGAATTCCTGGGCCACATTCATCTCCAGGGGGCGGAGGCAGGACTCTGGGGAGAGGCAGGTCGAACATCAGGCCGTAAGAATTGTCCAGGACTTGGCACCAGTCACTTAACCATCATGTGCTTATTGAGCTCCAACTGTGTACAGAGCCACGTGCTGGGTCCTGGGGGCTCAGCAGAAGCAGGCCAGGCCCTGTCCTCTTAGGGCCTCCAGGATCACCCACGTCCATCCCTGCCCCTCAGTTCAAGTCCTGGCTGCGGCCATCCCTTCGGTCGTGACCTTGGCCAAAGGCTTCTCACCCCCTCCAAGTCGTGATTTGTTTCCCCACCTGCAATTTGGAAAGAATCCAATACTGAACTATGGGGCAGGGTAAGAGGCATACAAAAAAATTCAGCATTGGACCTGGCATACAGTAGGTGCTCAATTAATGCCAATTTGCTGCAGCTGTTGTTGTCATTACTATTATTATTCTCACCAGTATCATCATCCTGAGGTCCGCAGTCGCCCTAGAATAAAAACATATTCATATATTGTTTTGCATTTTGGTGCTGAAAAATATTTGCTGTTTTACAATTAGTTATTTATTTACTTATTTATCTGAGACACGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGCAATCATGGCTTATTGAAGCCTCAACCTCCCAGGGCTCAGGTGATCCTCCCGCCTCAGTCTCCTGAGTAGTTGGGACTACAGGCATGCACCATCACACTCAGCTAATTTTTGCATTTTTGGTAGAGACGGGATTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCCACCCCAACTCGGCCTCCCAAAGCACTGGGATTACAGGCGTGAGCCACCGCACCTCGCTAAATTTTTTTAAATTAAAGACCATACTTCCAGGGATTATTTCTATCGTTAATTACTAGAGAACCTTCTCTAGGTTCAAACCTTCTTTAGGAACATATAAAGCAGTAAAAAATTATTATAACTAAATTTTAAAAATTAATAATTATTTTACTAAACACAATGTGGGATCCTGGATTGAATCTGGGAGCAGAAAAAAGACATTCCTGGAAAAATTGGTGACATTCAAATAATGCCTGGAGTTTATGTAAGACATTAACATTAGAGGAGTTTGGGTAAAGGATATATGGGCGTTCTCTGCACCAGTTTATATAGTAACTTTTCTGAAAATCGAAGGTTATTCCAAAAGAAAAAATTTATTTTAAAAAATTTTAGTGGGAGCAAGGCGTGGTGGTTCATGCCTGTATTCCCAGCACTTTGGAAGGCCAAGGTGGGCGGATCACCTGAGGAGTTTGAGACCAGCCTGGCCCACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGCGTGTGGTAGTGGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGACAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCTCAGAAAAAAAAAAAGAAAAAGAAAAAAACCACCTCAGGGGCTAGAGTGGGGGCTGGTTGGGAGCGGGGACAGATGCAGAGATGGTGAGACTGATTTGGGGGTGAAGGTGCCCTGGAGAGGCCCGTGTCCACCCTGGACTTGGGAAACAAACTCACCAACTTCCATGGGCTGCTGGGTGTCCGGTGCCGGAACTGCACCTCAGCACCAACCTGGTTATCCGGGGTCTCCCACTCCATACGCAGCTGCCCGGCCAACTTGGACACCTTGATGTCTCCCAGAGGAGGCTCATATTTAACTGGAAGCAGAGGTAGGGATTGGCGAGGGGCAGCCCACACGTATGTGAGTTAATGGGCCCTGAAAATCCACCCTGTCCAGGGTAAGCAACTGAATCCCTAAATATGAATTAGGGGACACTTGCAGGTCCCAGCTAAGCCTGGTATATTATGATCAAAAAGTCAAGATTTATACACAAGCCACATACGGTGGCTCACCCTGTAATTCCAGTATTTTGGGAGGCCAAGGCAGGAAGATCACTTAAGCCCAG
Task1_train_26927
This variant lies on Chromosome 19 and affects the gene IL12RB1 (interleukin 12 receptor subunit beta 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
ATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACGCCCAGCCCCATTTTATTTTATTTTTTAGAGATGGGGTCTCACTATGTTGCCCGGGCTGGTCTCAAACCACTGGCCTCAAGTGATCCTCCCGCCTCAGCCTTCTGAGCAGCTGGAACTACAGGTGTGCACCACCACCTCCGGCTGTTGCCTTATTTCTAATGCTTGCCCCTGTTCCTGTACTCAGAGTGATCTTACCAGGGGGAACGCACACGGGGCTGCTCCACTTGCTCCAGGAACTTCCTTGGCTCCCCAGCTGCCGTCGTCGGAGCTGGAATTCCTGGGCCACATTCATCTCCAGGGGGCAGAGGCAGGACTCTGGGGAGAGGCAGGTCGAACATCAGGCCGTAAGAATTGTCCAGGACTTGGCACCAGTCACTTAACCATCATGTGCTTATTGAGCTCCAACTGTGTACAGAGCCACGTGCTGGGTCCTGGGGGCTCAGCAGAAGCAGGCCAGGCCCTGTCCTCTTAGGGCCTCCAGGATCACCCACGTCCATCCCTGCCCCTCAGTTCAAGTCCTGGCTGCGGCCATCCCTTCGGTCGTGACCTTGGCCAAAGGCTTCTCACCCCCTCCAAGTCGTGATTTGTTTCCCCACCTGCAATTTGGAAAGAATCCAATACTGAACTATGGGGCAGGGTAAGAGGCATACAAAAAAATTCAGCATTGGACCTGGCATACAGTAGGTGCTCAATTAATGCCAATTTGCTGCAGCTGTTGTTGTCATTACTATTATTATTCTCACCAGTATCATCATCCTGAGGTCCGCAGTCGCCCTAGAATAAAAACATATTCATATATTGTTTTGCATTTTGGTGCTGAAAAATATTTGCTGTTTTACAATTAGTTATTTATTTACTTATTTATCTGAGACACGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGCAATCATGGCTTATTGAAGCCTCAACCTCCCAGGGCTCAGGTGATCCTCCCGCCTCAGTCTCCTGAGTAGTTGGGACTACAGGCATGCACCATCACACTCAGCTAATTTTTGCATTTTTGGTAGAGACGGGATTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCCACCCCAACTCGGCCTCCCAAAGCACTGGGATTACAGGCGTGAGCCACCGCACCTCGCTAAATTTTTTTAAATTAAAGACCATACTTCCAGGGATTATTTCTATCGTTAATTACTAGAGAACCTTCTCTAGGTTCAAACCTTCTTTAGGAACATATAAAGCAGTAAAAAATTATTATAACTAAATTTTAAAAATTAATAATTATTTTACTAAACACAATGTGGGATCCTGGATTGAATCTGGGAGCAGAAAAAAGACATTCCTGGAAAAATTGGTGACATTCAAATAATGCCTGGAGTTTATGTAAGACATTAACATTAGAGGAGTTTGGGTAAAGGATATATGGGCGTTCTCTGCACCAGTTTATATAGTAACTTTTCTGAAAATCGAAGGTTATTCCAAAAGAAAAAATTTATTTTAAAAAATTTTAGTGGGAGCAAGGCGTGGTGGTTCATGCCTGTATTCCCAGCACTTTGGAAGGCCAAGGTGGGCGGATCACCTGAGGAGTTTGAGACCAGCCTGGCCCACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGCGTGTGGTAGTGGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGACAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCTCAGAAAAAAAAAAAGAAAAAGAAAAAAACCACCTCAGGGGCTAGAGTGGGGGCTGGTTGGGAGCGGGGACAGATGCAGAGATGGTGAGACTGATTTGGGGGTGAAGGTGCCCTGGAGAGGCCCGTGTCCACCCTGGACTTGGGAAACAAACTCACCAACTTCCATGGGCTGCTGGGTGTCCGGTGCCGGAACTGCACCTCAGCACCAACCTGGTTATCCGGGGTCTCCCACTCCATACGCAGCTGCCCGGCCAACTTGGACACCTTGATGTCTCCCAGAGGAGGCTCATATTTAACTGGAAGCAGAGGTAGGGATTGGCGAGGGGCAGCCCACACGTATGTGAGTTAATGGGCCCTGAAAATCCACCCTGTCCAGGGTAAGCAACTGAATCCCTAAATATGAATTAGGGGACACTTGCAGGTCCCAGCTAAGCCTGGTATATTATGATCAAAAAGTCAAGATTTATACACAAGCCACATACGGTGGCTCACCCTGTAATTCCAGTATTTTGGGAGGCCAAGGCAGGAAGATCACTTAAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGTGAGACCCCCTCATCTCTACATAAAAATTAGCCAGGCATGGTAGTTCATGACTGTGGTTCCAGCTACTTAGGAGAGTGAGATGGGAGGATCTCTTGAGCCTAGGAGGCTGAGGCTGAAGTGAGCCCTGATCACACCACTGCTCTCCAATCTAGGAGAGAGAGGGAGAACTTGTCTCTAAAAAAACAACAAATATGGCCAGGAGCAGTGGCTCATAGCTGTAATCCTAGCACTTTGGGAAGCCAAGGTGGGTGGATCATCTGAGGTCAGGAGTTTAAGACCAACCTGGCCAACACGGTGAAACACCGTCTCTACTAAATACAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGTAGTTAGACAAGATCCCACCACTGCCCTCCGGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAACAAATTAAAATTAAATTAAAATTTAAAAATAAATAATTTTTAATAAAGATTTATACACAGGATCCTGTTAGTGAAGATAACTTTAAAATATTAACACCCATTGCTGGCAAGGCTGTGAAGAGACGGGCACTTTTGTAAATTGCTTGCCAGAGGGTAATCAATTCTGGTAAGCAATTTACAAAAGTGCCTGTCTCTTGGGGGTGATCCGCCCACCTCGGGCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGTCCAGCCAATTCTTTTTTTGTTTGTTTGTTTGTTTAGAACTATCAGGGAAATCGTACTTAGTTTTTAGATCTATTTCAAGGAACCTGACCCAAGGAGAGACATAAATTAGCATAAAATAGTCTTGCTGCACCGTGGTCATACCCGGCCTGATTCTTTTTTTATATCATTGTATAAATTTAAGAGGTATGATGGTTTGATATACATATCCATAGTGAAATGATTACTACAGTAAGGAATTTAACATATCCATGGCCAGGCACAGGGGCCCACGCCTGTACTCGAAGCACTTTGGGAGGCCAAGACAGGAGGATCATTTGAGCCCAGGAGTTCAAGACCACCCTGGCCAACACAGCAAGACCCCATCTCTTAAAAATATATATACATATCCATCACCTTCTATAATTACTTTTTTGGTGTGTGGTGAGAACACTTAAAATTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGTTCACTGTAACCTCCATACCACAGGTTCACGTGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCCACCTCGGCCTCTCGAAGTGCTAGGATTACAGGCGTGAACCACTGCACCCAGCCCTTAAATCTATTCTTTTAGCAAATTTTCAATATACATTATTTTTAATTATAGTTCTCTACTGTACCTTGGAACTCTAGATTTATTTGTGCTGCGTAACTACAAATTGTATTCCTTTGACCTACATCTCCCCCATTTCCTCCTTCTCTCCATCCCCGGTAACCACAGTTCTACTTTCGGTGCCTAGATATTCG
ATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACGCCCAGCCCCATTTTATTTTATTTTTTAGAGATGGGGTCTCACTATGTTGCCCGGGCTGGTCTCAAACCACTGGCCTCAAGTGATCCTCCCGCCTCAGCCTTCTGAGCAGCTGGAACTACAGGTGTGCACCACCACCTCCGGCTGTTGCCTTATTTCTAATGCTTGCCCCTGTTCCTGTACTCAGAGTGATCTTACCAGGGGGAACGCACACGGGGCTGCTCCACTTGCTCCAGGAACTTCCTTGGCTCCCCAGCTGCCGTCGTCGGAGCTGGAATTCCTGGGCCACATTCATCTCCAGGGGGCAGAGGCAGGACTCTGGGGAGAGGCAGGTCGAACATCAGGCCGTAAGAATTGTCCAGGACTTGGCACCAGTCACTTAACCATCATGTGCTTATTGAGCTCCAACTGTGTACAGAGCCACGTGCTGGGTCCTGGGGGCTCAGCAGAAGCAGGCCAGGCCCTGTCCTCTTAGGGCCTCCAGGATCACCCACGTCCATCCCTGCCCCTCAGTTCAAGTCCTGGCTGCGGCCATCCCTTCGGTCGTGACCTTGGCCAAAGGCTTCTCACCCCCTCCAAGTCGTGATTTGTTTCCCCACCTGCAATTTGGAAAGAATCCAATACTGAACTATGGGGCAGGGTAAGAGGCATACAAAAAAATTCAGCATTGGACCTGGCATACAGTAGGTGCTCAATTAATGCCAATTTGCTGCAGCTGTTGTTGTCATTACTATTATTATTCTCACCAGTATCATCATCCTGAGGTCCGCAGTCGCCCTAGAATAAAAACATATTCATATATTGTTTTGCATTTTGGTGCTGAAAAATATTTGCTGTTTTACAATTAGTTATTTATTTACTTATTTATCTGAGACACGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGCAATCATGGCTTATTGAAGCCTCAACCTCCCAGGGCTCAGGTGATCCTCCCGCCTCAGTCTCCTGAGTAGTTGGGACTACAGGCATGCACCATCACACTCAGCTAATTTTTGCATTTTTGGTAGAGACGGGATTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCCACCCCAACTCGGCCTCCCAAAGCACTGGGATTACAGGCGTGAGCCACCGCACCTCGCTAAATTTTTTTAAATTAAAGACCATACTTCCAGGGATTATTTCTATCGTTAATTACTAGAGAACCTTCTCTAGGTTCAAACCTTCTTTAGGAACATATAAAGCAGTAAAAAATTATTATAACTAAATTTTAAAAATTAATAATTATTTTACTAAACACAATGTGGGATCCTGGATTGAATCTGGGAGCAGAAAAAAGACATTCCTGGAAAAATTGGTGACATTCAAATAATGCCTGGAGTTTATGTAAGACATTAACATTAGAGGAGTTTGGGTAAAGGATATATGGGCGTTCTCTGCACCAGTTTATATAGTAACTTTTCTGAAAATCGAAGGTTATTCCAAAAGAAAAAATTTATTTTAAAAAATTTTAGTGGGAGCAAGGCGTGGTGGTTCATGCCTGTATTCCCAGCACTTTGGAAGGCCAAGGTGGGCGGATCACCTGAGGAGTTTGAGACCAGCCTGGCCCACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGCGTGTGGTAGTGGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGACAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCTCAGAAAAAAAAAAAGAAAAAGAAAAAAACCACCTCAGGGGCTAGAGTGGGGGCTGGTTGGGAGCGGGGACAGATGCAGAGATGGTGAGACTGATTTGGGGGTGAAGGTGCCCTGGAGAGGCCCGTGTCCACCCTGGACTTGGGAAACAAACTCACCAACTTCCATGGGCTGCTGGGTGTCCGGTGCCAGAACTGCACCTCAGCACCAACCTGGTTATCCGGGGTCTCCCACTCCATACGCAGCTGCCCGGCCAACTTGGACACCTTGATGTCTCCCAGAGGAGGCTCATATTTAACTGGAAGCAGAGGTAGGGATTGGCGAGGGGCAGCCCACACGTATGTGAGTTAATGGGCCCTGAAAATCCACCCTGTCCAGGGTAAGCAACTGAATCCCTAAATATGAATTAGGGGACACTTGCAGGTCCCAGCTAAGCCTGGTATATTATGATCAAAAAGTCAAGATTTATACACAAGCCACATACGGTGGCTCACCCTGTAATTCCAGTATTTTGGGAGGCCAAGGCAGGAAGATCACTTAAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGTGAGACCCCCTCATCTCTACATAAAAATTAGCCAGGCATGGTAGTTCATGACTGTGGTTCCAGCTACTTAGGAGAGTGAGATGGGAGGATCTCTTGAGCCTAGGAGGCTGAGGCTGAAGTGAGCCCTGATCACACCACTGCTCTCCAATCTAGGAGAGAGAGGGAGAACTTGTCTCTAAAAAAACAACAAATATGGCCAGGAGCAGTGGCTCATAGCTGTAATCCTAGCACTTTGGGAAGCCAAGGTGGGTGGATCATCTGAGGTCAGGAGTTTAAGACCAACCTGGCCAACACGGTGAAACACCGTCTCTACTAAATACAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGTAGTTAGACAAGATCCCACCACTGCCCTCCGGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAACAAATTAAAATTAAATTAAAATTTAAAAATAAATAATTTTTAATAAAGATTTATACACAGGATCCTGTTAGTGAAGATAACTTTAAAATATTAACACCCATTGCTGGCAAGGCTGTGAAGAGACGGGCACTTTTGTAAATTGCTTGCCAGAGGGTAATCAATTCTGGTAAGCAATTTACAAAAGTGCCTGTCTCTTGGGGGTGATCCGCCCACCTCGGGCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGTCCAGCCAATTCTTTTTTTGTTTGTTTGTTTGTTTAGAACTATCAGGGAAATCGTACTTAGTTTTTAGATCTATTTCAAGGAACCTGACCCAAGGAGAGACATAAATTAGCATAAAATAGTCTTGCTGCACCGTGGTCATACCCGGCCTGATTCTTTTTTTATATCATTGTATAAATTTAAGAGGTATGATGGTTTGATATACATATCCATAGTGAAATGATTACTACAGTAAGGAATTTAACATATCCATGGCCAGGCACAGGGGCCCACGCCTGTACTCGAAGCACTTTGGGAGGCCAAGACAGGAGGATCATTTGAGCCCAGGAGTTCAAGACCACCCTGGCCAACACAGCAAGACCCCATCTCTTAAAAATATATATACATATCCATCACCTTCTATAATTACTTTTTTGGTGTGTGGTGAGAACACTTAAAATTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGTTCACTGTAACCTCCATACCACAGGTTCACGTGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCCACCTCGGCCTCTCGAAGTGCTAGGATTACAGGCGTGAACCACTGCACCCAGCCCTTAAATCTATTCTTTTAGCAAATTTTCAATATACATTATTTTTAATTATAGTTCTCTACTGTACCTTGGAACTCTAGATTTATTTGTGCTGCGTAACTACAAATTGTATTCCTTTGACCTACATCTCCCCCATTTCCTCCTTCTCTCCATCCCCGGTAACCACAGTTCTACTTTCGGTGCCTAGATATTCG
Task1_train_26928
Given a variant located on Chromosome 19 and affecting MAST3 (microtubule associated serine/threonine kinase 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Developmental and epileptic encephalopathy 108
AAAGGGCTGGGTTTGCCGAGGTCTTGCATGTAGCTTAATTAGCATCGGTGACTTTGGAGGCAAGGTGACGGCACGTGGGACTGCCCTGCCTTGGAAGTCGGGTGGGGGCAGTGCTGGAGGGGCACTGGACAGGTGAGTTTTGCAGGACGTGTAAGAATTTCCCAGGAGGAGGGCACAGCTGTGAGCAAAAAAGTACAGAAAGTCAGAAGCTGAGTTGGAGAAGTTTGGACAGGGGAGGAGGTAGCATCGGGCACCAGGACCAGTGGTTTGGGCTTGGGGGCAGGAGAAGCCTTCCCAGCTCTGCAGCGGGGCAGGACCCTAAGCCCTTCCCATCCCCTAGAGCCGCGCCCTGGTCGGCCAGTCACGGAGGAAGCCATGCGAAAGCGACTTTGAGACCATCAAACTCATTAGCAACGGAGCCTATGGGTGAGTCCCTGAGTCCTGCATAGACCCATTTCACAGATGCCTGAGGGGATGGTTGAGGCCCAGGCAGCTCCTGCATCCCCCTCCTACCCCAGCAGGGCTCACACATTCATCCTTGAATGGGCAGAGAAGGCACCTGAGGACTGGAGGGGGAAGTGGAGACACGCCATAGCGAGGTTACAGCCTCATGTGTGCTCTGTCCACGAGCCAGGCCTTTACCTGCCCCAGGTGTAGGGCGTTCTAGGGGCTTGGGGGCTGATCAAGGAAATAGATGCCCACCCAGTGGGAGTAGCACGCAGTGAGCTTTATTTAGGTGCTGCTTTGAATGGCAGGCTTGCATACAAGGGAAGTCCCTCATAGCATAAGCCTTTTGGAGGCTGAGGTTCCAGGAGTCACCATCAAGAGGGAGAGGCCGGCAAGGGAACTCCCCGGGCAGAGGGGGATCAGAGAGGGGGCTTACATGTCTAGGTGATGTTGTTCAACAGCATGGGCACTCAATCTCTGGGTCAGAGACTCCCTGCAGGGTGGTAGCAGCTTAGGGTCTTGAAATCCACAAAGTTCATCTTATCCATGGCTCAGAGATGGTGCAGTTTCACGAGTCTGCAAAGCAGACAGGCTCTCAGTGGCTAAAATTTTGCTTACTTGGTCTGTGTGTAAAACAAACGGATGTGTAAAACTTTGAGTTTGGTGCTAGCGGTCTTTTAAAAGAGCTAGACCAGGTGCGGAGGCACTTTGGGAGGCCAAGGTAGGAGGATCGCTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACTCCATCAATACTAAAAATAGAATAATTAACTGGGCGTAATGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTGAAGTTGGAGGATCACCTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAAAAAAAAAAGGAAAGAAAGAAAGAAAGAAATACACAAGCAGCCAGGTGCAGTGGCTCTCGCCTATAATCCCAGCACTTTGGGAGCCCGAAGTGGGAGGGTCACTTGAGGCCAGGAGTTTGAGACTAGCCTCCACAACATAGCGAGACCCCATCTCTACAAAAAATTTAAACATTAGCCAGGTTCTGTTGTGGGAGGATCATTTGAGCCGGGGGGGTGGTAAAGACTATAGTGAGCCGTGATCTCATGACTGTGCTCCAGCCTGGGCAACAGAGTGAGGCGCTATCTCAAAAAACATAAGATAAAATAAAAATAAAAGAAACATACAACCTAGAGGCCAATATACAAGGGCCATGTGCAGCCCATTTATATGGCCCCCAGCCATGGTGGCTTAAACCCAAAGGTGGCTGCTCTGGGAGGGGGAACAGGTAAGGAGAATGGGTGGCCCAGGTGGAGGGCACAGCACAGGCAAAGGCCAGGCAGGTTGGGATCTGGGCTCAAGTTGAGCTGTAGTGCCTGCTGGGGCCTCGATCTCCGGTCCCAGCAAGCCTGGCCCTCTGTCCCCAGGGCCGTCTACCTGGTGCGGCACCGTGACACACGGCAGCGCTTTGCCATCAAGAAGATCAACAAACAGAACTTGATCCTGCGTAACCAGATCCAGCAGGTCTTTGTGGAGCGTGACATTCTCACCTTTGCCGAGAACCCCTTTGTGGTCAGCATGTTCTGCTCCTTTGAGACCCGGCGCCACCTATGTATGGTCATGGAATACGTGGAAGGTACGCTCACTGGGGCTTGCATGCCTCCAGCGATGGGGAGCTCACCCCTCCACGCCTGGGAGAAAATTTTTAGACCAAGTTGAGGTCTGTTCTGTCCTCCATGAGGTCTCACCCTGCTTTGGGGAACCCTCAGGAACCCCAGTCTGGGGTAGGGAGCCCAGCCATGGGGGTTTAGGGCTGGAGGAGCCCAGACAGGAGTGTGTGAGGATGGGACCCTGGAGGCAAGAGGAGGGTGGCCATCCTAGGTGGGGGGAACTGATGGGCAGAGGCCTGGAGACCAGAAGTGAAGGCAGGGAGATGTATGGTTCAGGCAGGTAAAGTACTATTACCAAAGTACTGCCAGGCGAGAGAGCGAACATGCACTTAGGAGACACCAGCTGTATACAGCACTAATTGCTGCCCTGTCGGGGAGAATCAGAAGGCAGGGTCTCAGCTTGGCGCGCTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAAGTGGGCTGATCGCTTGAGGTCAGGACTTCGAGACCAGCCTAAGCAACATGGCGAAACCCCCATTCACGCCTATAGTCCCAGCTACTCGGGAGGCTGAAGCAGGAGATTCGCTTGAACTCTAGAGGCGGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCTAGCCTGGGCAACAGAGCGGGCAACAGAGTGAGACTCTGTCTCAAAAAAATAAATAAAAATTTAAAAAATAGGCCAGGCGCGGTGGCCAACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCTGGTGGATCACGAGGTCAAGAGATCGAGACCATCCTGACCAACATAGTGAAGCCCCATCTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCTGGAGGCTGGGGCAGGAGACTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCTCTCTCAAAAAGAAGAAAAAATTAAAAAATTAAAAATAAATGAAGGTAGGGTCCGCCCCTTCCCTCTCCCCCGACCCTCCCCGCTGAGATAGAACAAACTGGGGACCTTTTGCAGGAGGTAAAGCGAGGAGGATGCATAGGCATTGGGCATAACCTAAGGGGCGGGCGGGGGGCGGGGGTGCCCCGGGCCTCATGACTACATCCGCCCTTCTCCCAGGCGGCGACTGCGCCACGCTCCTGAAGAACATGGGCCCGCTGCCCGTGGACATGGCCCGCCTGTACTTCGCCGAGACGGTGTTGGCGCTGGAGTACCTGCATAACTATGGCATCGTGCACCGTGACCTCAAACCAGACAAGTGAGCTGAGCTAGCATGAGCGGGGCCTCGCGGAGGGCGGGGCCAGAGAGGATCAGGGGCGGGGCCAAAGAGGATCAGGGCAGAGCCTCTGAGGTGCATCCCGGGACCCTTCAGGAGCCCCATCTGTCTGAGCTCTGTTGGTACCTCCTGACAGGAAGGCAGGGAATGAGCGCATGGTGAACATCTTGTGTGTACAGAGGAGAGGAGAGCAGACACTTAATAGGCGTCTGCTGTATGCAGGGGAAGGCCGGTGCACTTATGGAGGTGCTGCCAATCCAGGGGAGAGGATGTGCACTTAGGATGCACACACTGTATACAGGAGAAGGGGCTGCGCACCCAGAGCTGCTGCTGCACAAGGGGAGAGAACATGCACTTATAAGACACCAACTACACACACAGAACAGGATTATGCAATTTGCGAGACCTTACATGTAAAGACAGTGACCGTGCATGTCTTGAGCACCTGCTGTATATTAGTGCAGGAAAGCAAGGAAGAGAACGTGTTTACTGAGAGCCTTAGGATGTTTATTTTATTCTGGTAGGTGGTAAGCACCTACTGCATGCCAGACCCTCT
AAAGGGCTGGGTTTGCCGAGGTCTTGCATGTAGCTTAATTAGCATCGGTGACTTTGGAGGCAAGGTGACGGCACGTGGGACTGCCCTGCCTTGGAAGTCGGGTGGGGGCAGTGCTGGAGGGGCACTGGACAGGTGAGTTTTGCAGGACGTGTAAGAATTTCCCAGGAGGAGGGCACAGCTGTGAGCAAAAAAGTACAGAAAGTCAGAAGCTGAGTTGGAGAAGTTTGGACAGGGGAGGAGGTAGCATCGGGCACCAGGACCAGTGGTTTGGGCTTGGGGGCAGGAGAAGCCTTCCCAGCTCTGCAGCGGGGCAGGACCCTAAGCCCTTCCCATCCCCTAGAGCCGCGCCCTGGTCGGCCAGTCACGGAGGAAGCCATGCGAAAGCGACTTTGAGACCATCAAACTCATTAGCAACGGAGCCTATGGGTGAGTCCCTGAGTCCTGCATAGACCCATTTCACAGATGCCTGAGGGGATGGTTGAGGCCCAGGCAGCTCCTGCATCCCCCTCCTACCCCAGCAGGGCTCACACATTCATCCTTGAATGGGCAGAGAAGGCACCTGAGGACTGGAGGGGGAAGTGGAGACACGCCATAGCGAGGTTACAGCCTCATGTGTGCTCTGTCCACGAGCCAGGCCTTTACCTGCCCCAGGTGTAGGGCGTTCTAGGGGCTTGGGGGCTGATCAAGGAAATAGATGCCCACCCAGTGGGAGTAGCACGCAGTGAGCTTTATTTAGGTGCTGCTTTGAATGGCAGGCTTGCATACAAGGGAAGTCCCTCATAGCATAAGCCTTTTGGAGGCTGAGGTTCCAGGAGTCACCATCAAGAGGGAGAGGCCGGCAAGGGAACTCCCCGGGCAGAGGGGGATCAGAGAGGGGGCTTACATGTCTAGGTGATGTTGTTCAACAGCATGGGCACTCAATCTCTGGGTCAGAGACTCCCTGCAGGGTGGTAGCAGCTTAGGGTCTTGAAATCCACAAAGTTCATCTTATCCATGGCTCAGAGATGGTGCAGTTTCACGAGTCTGCAAAGCAGACAGGCTCTCAGTGGCTAAAATTTTGCTTACTTGGTCTGTGTGTAAAACAAACGGATGTGTAAAACTTTGAGTTTGGTGCTAGCGGTCTTTTAAAAGAGCTAGACCAGGTGCGGAGGCACTTTGGGAGGCCAAGGTAGGAGGATCGCTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACTCCATCAATACTAAAAATAGAATAATTAACTGGGCGTAATGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTGAAGTTGGAGGATCACCTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAAAAAAAAAAGGAAAGAAAGAAAGAAAGAAATACACAAGCAGCCAGGTGCAGTGGCTCTCGCCTATAATCCCAGCACTTTGGGAGCCCGAAGTGGGAGGGTCACTTGAGGCCAGGAGTTTGAGACTAGCCTCCACAACATAGCGAGACCCCATCTCTACAAAAAATTTAAACATTAGCCAGGTTCTGTTGTGGGAGGATCATTTGAGCCGGGGGGGTGGTAAAGACTATAGTGAGCCGTGATCTCATGACTGTGCTCCAGCCTGGGCAACAGAGTGAGGCGCTATCTCAAAAAACATAAGATAAAATAAAAATAAAAGAAACATACAACCTAGAGGCCAATATACAAGGGCCATGTGCAGCCCATTTATATGGCCCCCAGCCATGGTGGCTTAAACCCAAAGGTGGCTGCTCTGGGAGGGGGAACAGGTAAGGAGAATGGGTGGCCCAGGTGGAGGGCACAGCACAGGCAAAGGCCAGGCAGGTTGGGATCTGGGCTCAAGTTGAGCTGTAGTGCCTGCTGGGGCCTCGATCTCCGGTCCCAGCAAGCCTGGCCCTCTGTCCCCAGGGCCGTCTACCTGGTGCGGCACCGTGACACACGGCAGCGCTTTGCCATCAAGAAGATCAACAAACAGAACTTGATCCTGCCTAACCAGATCCAGCAGGTCTTTGTGGAGCGTGACATTCTCACCTTTGCCGAGAACCCCTTTGTGGTCAGCATGTTCTGCTCCTTTGAGACCCGGCGCCACCTATGTATGGTCATGGAATACGTGGAAGGTACGCTCACTGGGGCTTGCATGCCTCCAGCGATGGGGAGCTCACCCCTCCACGCCTGGGAGAAAATTTTTAGACCAAGTTGAGGTCTGTTCTGTCCTCCATGAGGTCTCACCCTGCTTTGGGGAACCCTCAGGAACCCCAGTCTGGGGTAGGGAGCCCAGCCATGGGGGTTTAGGGCTGGAGGAGCCCAGACAGGAGTGTGTGAGGATGGGACCCTGGAGGCAAGAGGAGGGTGGCCATCCTAGGTGGGGGGAACTGATGGGCAGAGGCCTGGAGACCAGAAGTGAAGGCAGGGAGATGTATGGTTCAGGCAGGTAAAGTACTATTACCAAAGTACTGCCAGGCGAGAGAGCGAACATGCACTTAGGAGACACCAGCTGTATACAGCACTAATTGCTGCCCTGTCGGGGAGAATCAGAAGGCAGGGTCTCAGCTTGGCGCGCTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAAGTGGGCTGATCGCTTGAGGTCAGGACTTCGAGACCAGCCTAAGCAACATGGCGAAACCCCCATTCACGCCTATAGTCCCAGCTACTCGGGAGGCTGAAGCAGGAGATTCGCTTGAACTCTAGAGGCGGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCTAGCCTGGGCAACAGAGCGGGCAACAGAGTGAGACTCTGTCTCAAAAAAATAAATAAAAATTTAAAAAATAGGCCAGGCGCGGTGGCCAACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCTGGTGGATCACGAGGTCAAGAGATCGAGACCATCCTGACCAACATAGTGAAGCCCCATCTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTGGTGTGCGCCTGTAATCCCAGCTACTCTGGAGGCTGGGGCAGGAGACTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCTCTCTCAAAAAGAAGAAAAAATTAAAAAATTAAAAATAAATGAAGGTAGGGTCCGCCCCTTCCCTCTCCCCCGACCCTCCCCGCTGAGATAGAACAAACTGGGGACCTTTTGCAGGAGGTAAAGCGAGGAGGATGCATAGGCATTGGGCATAACCTAAGGGGCGGGCGGGGGGCGGGGGTGCCCCGGGCCTCATGACTACATCCGCCCTTCTCCCAGGCGGCGACTGCGCCACGCTCCTGAAGAACATGGGCCCGCTGCCCGTGGACATGGCCCGCCTGTACTTCGCCGAGACGGTGTTGGCGCTGGAGTACCTGCATAACTATGGCATCGTGCACCGTGACCTCAAACCAGACAAGTGAGCTGAGCTAGCATGAGCGGGGCCTCGCGGAGGGCGGGGCCAGAGAGGATCAGGGGCGGGGCCAAAGAGGATCAGGGCAGAGCCTCTGAGGTGCATCCCGGGACCCTTCAGGAGCCCCATCTGTCTGAGCTCTGTTGGTACCTCCTGACAGGAAGGCAGGGAATGAGCGCATGGTGAACATCTTGTGTGTACAGAGGAGAGGAGAGCAGACACTTAATAGGCGTCTGCTGTATGCAGGGGAAGGCCGGTGCACTTATGGAGGTGCTGCCAATCCAGGGGAGAGGATGTGCACTTAGGATGCACACACTGTATACAGGAGAAGGGGCTGCGCACCCAGAGCTGCTGCTGCACAAGGGGAGAGAACATGCACTTATAAGACACCAACTACACACACAGAACAGGATTATGCAATTTGCGAGACCTTACATGTAAAGACAGTGACCGTGCATGTCTTGAGCACCTGCTGTATATTAGTGCAGGAAAGCAAGGAAGAGAACGTGTTTACTGAGAGCCTTAGGATGTTTATTTTATTCTGGTAGGTGGTAAGCACCTACTGCATGCCAGACCCTCT
Task1_train_26929
A mutation found in MAST3 (microtubule associated serine/threonine kinase 3) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Developmental and epileptic encephalopathy 108
GGTGGTAAGCACCTACTGCATGCCAGACCCTCTGTGGGCAACTGGGAGACACAGGGCCACCTGCTTTGAAACCCCTGTATTATTTTCTCCTCTGCATTTATTGAGCGCCTGCTGTGTGCAGGGAAAAAGGAATGCCTGTTTGTCAGGTGTCCTCGAGATACGAGGCAAGAACTGACATTTCTCACATACATGTGTGGAGATGTGAACATGAGTGTTAAGAGCCTTGCATGTAGGCCAGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGCCCAGCCTGGCCAACATAGTGAAACCTTGTCTCTACTAAAAATACAAAAATCAGCTGGGAGTGGTAGCGCGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGCGGAGGTTGCAATGAGCCAAGATCGTGCCACTGCACCCAAGCCTGGGCGACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAAGCGCCTCGCATGTTTTCAGGGCATTTTGCAGTTGGCAAGTGGCTTAGAAAACAGACATGTATGTGGCACCTGCTGTATACTTGGGCCTGTGCTCGATGCTCTAAGGAACTCAGAAGCATGAATAACTCCTTACACACTAACGTTGGGTTTCTATATCACATTTTCTTGGTTGGCATGTACTTGTTAGGCACCAGGTGTATACAAAATAGGCAGAAGAACAGTTATTAGGCAATGACTGTGTACCTGGCCCAGAACACTTTATCTTTATTTATTTATTTATTTTTTGAGACAGGGACAGTCTTTGTCGCCCGGGCTGGAGTACAGTGGCGCAGTCTTGGCTCACTGCAACCTCCGCCTACCGGGTTCAAGCAATATTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACTACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGAGTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAATTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTTTTGAACTCCCGACCTCAGGTGATCTGCCGGCTTCGGCCTCCCAAAGTGCTGGGATTACAGTTGTGAGCCACTGCGCCCGGCAAATGAACTCATTTTTAAAACTCTCACGCAAGTACAGTATATACTGCTGTTTAGGTTTTCCTATGGACTTAAATATATAAATGTTTTGCTACATCATAGTGTCTTATGCACCAGCTGTATGAAGTCGCATTTCCGTGCACCTTCTGGGTGCATCTGCCACTTAAAAATACATTCCAGAGAATTCACTGTGTATAACCATCATTTAATGAACTATGTAGTCAGTACCTCCTGTTTGCTCCAGCTCTGTAAAGAAACAATTCTGTGCCGGCACTTTGGGAGGCCGAGGCAGGTGAACTACCTGAGATCAGGAGTTCAAGACCAGCCTGACCAACACGGCAAAACCCCGTCTCTACTAAAAGTACACTAAAAAAATATATATATATATACACACACACACATATACGCACACACAGTAGAGACCAGGCATGCTGGCTCACACCTGTCATGCCAGCACTTTCAAAGGTGGGAGGATTGCTTGAGGCCAGCAATTCAAGACCAGCCTGGGCAACATAGCAAGACCTTATGTCTACAAAAAAAACCTTAGCTGGGTGTGGTGGTGTGCACCTGTAGTTCCAGCTACTTGGGAGGCTGAGCAGGAGGATCGCTAGGGCCCAGGAGTTGGAGGCAGAGCTCTGCCCATCTCAGGCGGAGCCAAGGTCTAGGGCAGAAGGGGAGGCCAGGCACCCCAGCCCCCCAGCTCTGAGCACACTCCTAACCTGCCCACAGTCTGCTCATCACCTCGCTTGGCCACATCAAGCTCACGGACTTCGGCCTGTCCAAGATCGGCCTCATGAGCATGGCCACCAACCTCTATGAGGGCCACATCGAGAAGGACGCCCGAGAGTTCATCGACAAGCAGGTGGGCGGGCAGGTGGGTGGGCAGCCCCGGGATGCCTCCTCCTCTCTCCTGGGACCTCTCTTGGGCTGGGGGCTGGCCTCAGTTTCCCCGTTCTCCCTGGCCCAGGTGTGTGGGACGCCGGAGTACATAGCCCCCGAGGTGATCTTCCGCCAGGGCTATGGGAAGCCAGTGGACTGGTGGGCCATGGGCGTCGTCCTCTATGAGTTTCTGGTGGGCTGCGTGCCTTTCTTTGGAGATACCCCCGAGGAACTCTTCGGTCAGGTGGTCAGCGGTGCGTTTCCTCCACGGGCCTGGGTTTGAGCTGCAGCCCCACCAGAGCTCTGGGCAGCGGTCCTCCACCCGCATGTCAGGGAGAGAAGCAGGAAGAGGGGAGGGAGTTGGATGCCAGGTGGGGAGGCGGTGGGGTGCTGAGTGAGGCGGGTGGCTGGATTAATTATAGGGTCACAGAGGCTTCACTGAAGTGACTTGTGAGGCTGGGCACAGTGGCAAACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCATATAAGGTCAGGAGTTTAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATAAAAAAAAGAAGTGACATGTGAGCAGAGACCTGCAAGAACCTGAGAATGAGAGAAAGCCATAGAGACAGAAAAGAGAAAGGTGGCTCTGAGCATAGGGCACAGCTGTGGCAAAGGCTGTCAGTGGGTACCAAGCCTGCCACGTTGCAGGGGCAGAGGAGGCCAGTGGCTTGGAGTACAGTGAAGTGAGGGGAAATGGTGGATGGTACTAGAAAGGGGTACCCTGCCTTCTCCCTCCCTCCCTCATTTTACCTCCCTCCCTCATTTTAGATGAGATCATGTGGCCAGAGGGAGATGAGGCCCTTCCAGCAGACGCCCAGGACCTCATCACCAGGTTGCTCCGGCAGAGCCCGCTGGACCGTCTGGGCACTGGTATGTAGTGTGGGGGAGAACCCAGGTGGGTGGCTCCTTCAGGCCCTGGGACCCAGGGAATGGAGGGATAGCGCCCGGGGTAGACAAGAGTTCTACTTGGGAAGCTGCATGGAGGAGGGGGTTTGCAGCTAGGGTTTTGAAGGATGCACAGGAGTTCTCCAGGAACTATCACAAGACCTTGGAAAGAATAGAAAGTAGCTGGGTCTGGTGCCCATATGGAGCACTGAGCCTGAATAAGTGTGTGAGGCTGTAAAGTCACCAGGACCTGTGTCAAAGGCCCAGCCCAGAAGATCCCACTGTCCCAGTTTTCCCAGCCACCTGGTTAATCATTAAGGGACCGTTTGAGACTCATGCAGCCACCCATCACGTGGCCACTATGGCTCCTGTTCATGACTGAGGCTTTGCTATGGGAGACGGTTGGGTCCAAGGTCGGGGATCATCACCTGCTCTGTGGAGCAGAAGTGGGAGAAGCCCGGGAAGGAGGCCCTCGTAAGGCTCTGGGCTTTCTCTAGGCGGTGTGGTCCCAGATGGCAGCAGAGAGAAGGGCAGAATCTTTGGAACCTGGGCAGCCTGGGTGCTTTTTTATTTTTTTGAGATTAGATCTCACTCTGTCACTCAGGCTGGAGTGGAGTTGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGTAGCCGGAACCACAGGCATGTGCCATCATGCCCGGCTAATTTTTATACTTTTGGTAGAGACGAAATTGAGACGAAATTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTC
GGTGGTAAGCACCTACTGCATGCCAGACCCTCTGTGGGCAACTGGGAGACACAGGGCCACCTGCTTTGAAACCCCTGTATTATTTTCTCCTCTGCATTTATTGAGCGCCTGCTGTGTGCAGGGAAAAAGGAATGCCTGTTTGTCAGGTGTCCTCGAGATACGAGGCAAGAACTGACATTTCTCACATACATGTGTGGAGATGTGAACATGAGTGTTAAGAGCCTTGCATGTAGGCCAGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGCCCAGCCTGGCCAACATAGTGAAACCTTGTCTCTACTAAAAATACAAAAATCAGCTGGGAGTGGTAGCGCGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGCGGAGGTTGCAATGAGCCAAGATCGTGCCACTGCACCCAAGCCTGGGCGACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAAGCGCCTCGCATGTTTTCAGGGCATTTTGCAGTTGGCAAGTGGCTTAGAAAACAGACATGTATGTGGCACCTGCTGTATACTTGGGCCTGTGCTCGATGCTCTAAGGAACTCAGAAGCATGAATAACTCCTTACACACTAACGTTGGGTTTCTATATCACATTTTCTTGGTTGGCATGTACTTGTTAGGCACCAGGTGTATACAAAATAGGCAGAAGAACAGTTATTAGGCAATGACTGTGTACCTGGCCCAGAACACTTTATCTTTATTTATTTATTTATTTTTTGAGACAGGGACAGTCTTTGTCGCCCGGGCTGGAGTACAGTGGCGCAGTCTTGGCTCACTGCAACCTCCGCCTACCGGGTTCAAGCAATATTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACTACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGAGTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAATTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTTTTGAACTCCCGACCTCAGGTGATCTGCCGGCTTCGGCCTCCCAAAGTGCTGGGATTACAGTTGTGAGCCACTGCGCCCGGCAAATGAACTCATTTTTAAAACTCTCACGCAAGTACAGTATATACTGCTGTTTAGGTTTTCCTATGGACTTAAATATATAAATGTTTTGCTACATCATAGTGTCTTATGCACCAGCTGTATGAAGTCGCATTTCCGTGCACCTTCTGGGTGCATCTGCCACTTAAAAATACATTCCAGAGAATTCACTGTGTATAACCATCATTTAATGAACTATGTAGTCAGTACCTCCTGTTTGCTCCAGCTCTGTAAAGAAACAATTCTGTGCCGGCACTTTGGGAGGCCGAGGCAGGTGAACTACCTGAGATCAGGAGTTCAAGACCAGCCTGACCAACACGGCAAAACCCCGTCTCTACTAAAAGTACACTAAAAAAATATATATATATATACACACACACACATATACGCACACACAGTAGAGACCAGGCATGCTGGCTCACACCTGTCATGCCAGCACTTTCAAAGGTGGGAGGATTGCTTGAGGCCAGCAATTCAAGACCAGCCTGGGCAACATAGCAAGACCTTATGTCTACAAAAAAAACCTTAGCTGGGTGTGGTGGTGTGCACCTGTAGTTCCAGCTACTTGGGAGGCTGAGCAGGAGGATCGCTAGGGCCCAGGAGTTGGAGGCAGAGCTCTGCCCATCTCAGGCGGAGCCAAGGTCTAGGGCAGAAGGGGAGGCCAGGCACCCCAGCCCCCCAGCTCTGAGCACACTCCTAACCTGCCCACAGTCTGCTCATCACCTCGCTTGGCCACATCAAGCTCACGGACTTCGGCCTGTCCAAGATCAGCCTCATGAGCATGGCCACCAACCTCTATGAGGGCCACATCGAGAAGGACGCCCGAGAGTTCATCGACAAGCAGGTGGGCGGGCAGGTGGGTGGGCAGCCCCGGGATGCCTCCTCCTCTCTCCTGGGACCTCTCTTGGGCTGGGGGCTGGCCTCAGTTTCCCCGTTCTCCCTGGCCCAGGTGTGTGGGACGCCGGAGTACATAGCCCCCGAGGTGATCTTCCGCCAGGGCTATGGGAAGCCAGTGGACTGGTGGGCCATGGGCGTCGTCCTCTATGAGTTTCTGGTGGGCTGCGTGCCTTTCTTTGGAGATACCCCCGAGGAACTCTTCGGTCAGGTGGTCAGCGGTGCGTTTCCTCCACGGGCCTGGGTTTGAGCTGCAGCCCCACCAGAGCTCTGGGCAGCGGTCCTCCACCCGCATGTCAGGGAGAGAAGCAGGAAGAGGGGAGGGAGTTGGATGCCAGGTGGGGAGGCGGTGGGGTGCTGAGTGAGGCGGGTGGCTGGATTAATTATAGGGTCACAGAGGCTTCACTGAAGTGACTTGTGAGGCTGGGCACAGTGGCAAACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCATATAAGGTCAGGAGTTTAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATAAAAAAAAGAAGTGACATGTGAGCAGAGACCTGCAAGAACCTGAGAATGAGAGAAAGCCATAGAGACAGAAAAGAGAAAGGTGGCTCTGAGCATAGGGCACAGCTGTGGCAAAGGCTGTCAGTGGGTACCAAGCCTGCCACGTTGCAGGGGCAGAGGAGGCCAGTGGCTTGGAGTACAGTGAAGTGAGGGGAAATGGTGGATGGTACTAGAAAGGGGTACCCTGCCTTCTCCCTCCCTCCCTCATTTTACCTCCCTCCCTCATTTTAGATGAGATCATGTGGCCAGAGGGAGATGAGGCCCTTCCAGCAGACGCCCAGGACCTCATCACCAGGTTGCTCCGGCAGAGCCCGCTGGACCGTCTGGGCACTGGTATGTAGTGTGGGGGAGAACCCAGGTGGGTGGCTCCTTCAGGCCCTGGGACCCAGGGAATGGAGGGATAGCGCCCGGGGTAGACAAGAGTTCTACTTGGGAAGCTGCATGGAGGAGGGGGTTTGCAGCTAGGGTTTTGAAGGATGCACAGGAGTTCTCCAGGAACTATCACAAGACCTTGGAAAGAATAGAAAGTAGCTGGGTCTGGTGCCCATATGGAGCACTGAGCCTGAATAAGTGTGTGAGGCTGTAAAGTCACCAGGACCTGTGTCAAAGGCCCAGCCCAGAAGATCCCACTGTCCCAGTTTTCCCAGCCACCTGGTTAATCATTAAGGGACCGTTTGAGACTCATGCAGCCACCCATCACGTGGCCACTATGGCTCCTGTTCATGACTGAGGCTTTGCTATGGGAGACGGTTGGGTCCAAGGTCGGGGATCATCACCTGCTCTGTGGAGCAGAAGTGGGAGAAGCCCGGGAAGGAGGCCCTCGTAAGGCTCTGGGCTTTCTCTAGGCGGTGTGGTCCCAGATGGCAGCAGAGAGAAGGGCAGAATCTTTGGAACCTGGGCAGCCTGGGTGCTTTTTTATTTTTTTGAGATTAGATCTCACTCTGTCACTCAGGCTGGAGTGGAGTTGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGTAGCCGGAACCACAGGCATGTGCCATCATGCCCGGCTAATTTTTATACTTTTGGTAGAGACGAAATTGAGACGAAATTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTC
Task1_train_26930
This sequence change occurs on Chromosome 19, altering MAST3 (microtubule associated serine/threonine kinase 3). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Developmental and epileptic encephalopathy 108
GTAAGCACCTACTGCATGCCAGACCCTCTGTGGGCAACTGGGAGACACAGGGCCACCTGCTTTGAAACCCCTGTATTATTTTCTCCTCTGCATTTATTGAGCGCCTGCTGTGTGCAGGGAAAAAGGAATGCCTGTTTGTCAGGTGTCCTCGAGATACGAGGCAAGAACTGACATTTCTCACATACATGTGTGGAGATGTGAACATGAGTGTTAAGAGCCTTGCATGTAGGCCAGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGCCCAGCCTGGCCAACATAGTGAAACCTTGTCTCTACTAAAAATACAAAAATCAGCTGGGAGTGGTAGCGCGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGCGGAGGTTGCAATGAGCCAAGATCGTGCCACTGCACCCAAGCCTGGGCGACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAAGCGCCTCGCATGTTTTCAGGGCATTTTGCAGTTGGCAAGTGGCTTAGAAAACAGACATGTATGTGGCACCTGCTGTATACTTGGGCCTGTGCTCGATGCTCTAAGGAACTCAGAAGCATGAATAACTCCTTACACACTAACGTTGGGTTTCTATATCACATTTTCTTGGTTGGCATGTACTTGTTAGGCACCAGGTGTATACAAAATAGGCAGAAGAACAGTTATTAGGCAATGACTGTGTACCTGGCCCAGAACACTTTATCTTTATTTATTTATTTATTTTTTGAGACAGGGACAGTCTTTGTCGCCCGGGCTGGAGTACAGTGGCGCAGTCTTGGCTCACTGCAACCTCCGCCTACCGGGTTCAAGCAATATTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACTACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGAGTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAATTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTTTTGAACTCCCGACCTCAGGTGATCTGCCGGCTTCGGCCTCCCAAAGTGCTGGGATTACAGTTGTGAGCCACTGCGCCCGGCAAATGAACTCATTTTTAAAACTCTCACGCAAGTACAGTATATACTGCTGTTTAGGTTTTCCTATGGACTTAAATATATAAATGTTTTGCTACATCATAGTGTCTTATGCACCAGCTGTATGAAGTCGCATTTCCGTGCACCTTCTGGGTGCATCTGCCACTTAAAAATACATTCCAGAGAATTCACTGTGTATAACCATCATTTAATGAACTATGTAGTCAGTACCTCCTGTTTGCTCCAGCTCTGTAAAGAAACAATTCTGTGCCGGCACTTTGGGAGGCCGAGGCAGGTGAACTACCTGAGATCAGGAGTTCAAGACCAGCCTGACCAACACGGCAAAACCCCGTCTCTACTAAAAGTACACTAAAAAAATATATATATATATACACACACACACATATACGCACACACAGTAGAGACCAGGCATGCTGGCTCACACCTGTCATGCCAGCACTTTCAAAGGTGGGAGGATTGCTTGAGGCCAGCAATTCAAGACCAGCCTGGGCAACATAGCAAGACCTTATGTCTACAAAAAAAACCTTAGCTGGGTGTGGTGGTGTGCACCTGTAGTTCCAGCTACTTGGGAGGCTGAGCAGGAGGATCGCTAGGGCCCAGGAGTTGGAGGCAGAGCTCTGCCCATCTCAGGCGGAGCCAAGGTCTAGGGCAGAAGGGGAGGCCAGGCACCCCAGCCCCCCAGCTCTGAGCACACTCCTAACCTGCCCACAGTCTGCTCATCACCTCGCTTGGCCACATCAAGCTCACGGACTTCGGCCTGTCCAAGATCGGCCTCATGAGCATGGCCACCAACCTCTATGAGGGCCACATCGAGAAGGACGCCCGAGAGTTCATCGACAAGCAGGTGGGCGGGCAGGTGGGTGGGCAGCCCCGGGATGCCTCCTCCTCTCTCCTGGGACCTCTCTTGGGCTGGGGGCTGGCCTCAGTTTCCCCGTTCTCCCTGGCCCAGGTGTGTGGGACGCCGGAGTACATAGCCCCCGAGGTGATCTTCCGCCAGGGCTATGGGAAGCCAGTGGACTGGTGGGCCATGGGCGTCGTCCTCTATGAGTTTCTGGTGGGCTGCGTGCCTTTCTTTGGAGATACCCCCGAGGAACTCTTCGGTCAGGTGGTCAGCGGTGCGTTTCCTCCACGGGCCTGGGTTTGAGCTGCAGCCCCACCAGAGCTCTGGGCAGCGGTCCTCCACCCGCATGTCAGGGAGAGAAGCAGGAAGAGGGGAGGGAGTTGGATGCCAGGTGGGGAGGCGGTGGGGTGCTGAGTGAGGCGGGTGGCTGGATTAATTATAGGGTCACAGAGGCTTCACTGAAGTGACTTGTGAGGCTGGGCACAGTGGCAAACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCATATAAGGTCAGGAGTTTAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATAAAAAAAAGAAGTGACATGTGAGCAGAGACCTGCAAGAACCTGAGAATGAGAGAAAGCCATAGAGACAGAAAAGAGAAAGGTGGCTCTGAGCATAGGGCACAGCTGTGGCAAAGGCTGTCAGTGGGTACCAAGCCTGCCACGTTGCAGGGGCAGAGGAGGCCAGTGGCTTGGAGTACAGTGAAGTGAGGGGAAATGGTGGATGGTACTAGAAAGGGGTACCCTGCCTTCTCCCTCCCTCCCTCATTTTACCTCCCTCCCTCATTTTAGATGAGATCATGTGGCCAGAGGGAGATGAGGCCCTTCCAGCAGACGCCCAGGACCTCATCACCAGGTTGCTCCGGCAGAGCCCGCTGGACCGTCTGGGCACTGGTATGTAGTGTGGGGGAGAACCCAGGTGGGTGGCTCCTTCAGGCCCTGGGACCCAGGGAATGGAGGGATAGCGCCCGGGGTAGACAAGAGTTCTACTTGGGAAGCTGCATGGAGGAGGGGGTTTGCAGCTAGGGTTTTGAAGGATGCACAGGAGTTCTCCAGGAACTATCACAAGACCTTGGAAAGAATAGAAAGTAGCTGGGTCTGGTGCCCATATGGAGCACTGAGCCTGAATAAGTGTGTGAGGCTGTAAAGTCACCAGGACCTGTGTCAAAGGCCCAGCCCAGAAGATCCCACTGTCCCAGTTTTCCCAGCCACCTGGTTAATCATTAAGGGACCGTTTGAGACTCATGCAGCCACCCATCACGTGGCCACTATGGCTCCTGTTCATGACTGAGGCTTTGCTATGGGAGACGGTTGGGTCCAAGGTCGGGGATCATCACCTGCTCTGTGGAGCAGAAGTGGGAGAAGCCCGGGAAGGAGGCCCTCGTAAGGCTCTGGGCTTTCTCTAGGCGGTGTGGTCCCAGATGGCAGCAGAGAGAAGGGCAGAATCTTTGGAACCTGGGCAGCCTGGGTGCTTTTTTATTTTTTTGAGATTAGATCTCACTCTGTCACTCAGGCTGGAGTGGAGTTGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGTAGCCGGAACCACAGGCATGTGCCATCATGCCCGGCTAATTTTTATACTTTTGGTAGAGACGAAATTGAGACGAAATTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAA
GTAAGCACCTACTGCATGCCAGACCCTCTGTGGGCAACTGGGAGACACAGGGCCACCTGCTTTGAAACCCCTGTATTATTTTCTCCTCTGCATTTATTGAGCGCCTGCTGTGTGCAGGGAAAAAGGAATGCCTGTTTGTCAGGTGTCCTCGAGATACGAGGCAAGAACTGACATTTCTCACATACATGTGTGGAGATGTGAACATGAGTGTTAAGAGCCTTGCATGTAGGCCAGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGCCCAGCCTGGCCAACATAGTGAAACCTTGTCTCTACTAAAAATACAAAAATCAGCTGGGAGTGGTAGCGCGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGCGGAGGTTGCAATGAGCCAAGATCGTGCCACTGCACCCAAGCCTGGGCGACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAAGCGCCTCGCATGTTTTCAGGGCATTTTGCAGTTGGCAAGTGGCTTAGAAAACAGACATGTATGTGGCACCTGCTGTATACTTGGGCCTGTGCTCGATGCTCTAAGGAACTCAGAAGCATGAATAACTCCTTACACACTAACGTTGGGTTTCTATATCACATTTTCTTGGTTGGCATGTACTTGTTAGGCACCAGGTGTATACAAAATAGGCAGAAGAACAGTTATTAGGCAATGACTGTGTACCTGGCCCAGAACACTTTATCTTTATTTATTTATTTATTTTTTGAGACAGGGACAGTCTTTGTCGCCCGGGCTGGAGTACAGTGGCGCAGTCTTGGCTCACTGCAACCTCCGCCTACCGGGTTCAAGCAATATTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACTACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGAGTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAATTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTTTTGAACTCCCGACCTCAGGTGATCTGCCGGCTTCGGCCTCCCAAAGTGCTGGGATTACAGTTGTGAGCCACTGCGCCCGGCAAATGAACTCATTTTTAAAACTCTCACGCAAGTACAGTATATACTGCTGTTTAGGTTTTCCTATGGACTTAAATATATAAATGTTTTGCTACATCATAGTGTCTTATGCACCAGCTGTATGAAGTCGCATTTCCGTGCACCTTCTGGGTGCATCTGCCACTTAAAAATACATTCCAGAGAATTCACTGTGTATAACCATCATTTAATGAACTATGTAGTCAGTACCTCCTGTTTGCTCCAGCTCTGTAAAGAAACAATTCTGTGCCGGCACTTTGGGAGGCCGAGGCAGGTGAACTACCTGAGATCAGGAGTTCAAGACCAGCCTGACCAACACGGCAAAACCCCGTCTCTACTAAAAGTACACTAAAAAAATATATATATATATACACACACACACATATACGCACACACAGTAGAGACCAGGCATGCTGGCTCACACCTGTCATGCCAGCACTTTCAAAGGTGGGAGGATTGCTTGAGGCCAGCAATTCAAGACCAGCCTGGGCAACATAGCAAGACCTTATGTCTACAAAAAAAACCTTAGCTGGGTGTGGTGGTGTGCACCTGTAGTTCCAGCTACTTGGGAGGCTGAGCAGGAGGATCGCTAGGGCCCAGGAGTTGGAGGCAGAGCTCTGCCCATCTCAGGCGGAGCCAAGGTCTAGGGCAGAAGGGGAGGCCAGGCACCCCAGCCCCCCAGCTCTGAGCACACTCCTAACCTGCCCACAGTCTGCTCATCACCTCGCTTGGCCACATCAAGCTCACGGACTTCGGCCTGTCCAAGATCGGCCCCATGAGCATGGCCACCAACCTCTATGAGGGCCACATCGAGAAGGACGCCCGAGAGTTCATCGACAAGCAGGTGGGCGGGCAGGTGGGTGGGCAGCCCCGGGATGCCTCCTCCTCTCTCCTGGGACCTCTCTTGGGCTGGGGGCTGGCCTCAGTTTCCCCGTTCTCCCTGGCCCAGGTGTGTGGGACGCCGGAGTACATAGCCCCCGAGGTGATCTTCCGCCAGGGCTATGGGAAGCCAGTGGACTGGTGGGCCATGGGCGTCGTCCTCTATGAGTTTCTGGTGGGCTGCGTGCCTTTCTTTGGAGATACCCCCGAGGAACTCTTCGGTCAGGTGGTCAGCGGTGCGTTTCCTCCACGGGCCTGGGTTTGAGCTGCAGCCCCACCAGAGCTCTGGGCAGCGGTCCTCCACCCGCATGTCAGGGAGAGAAGCAGGAAGAGGGGAGGGAGTTGGATGCCAGGTGGGGAGGCGGTGGGGTGCTGAGTGAGGCGGGTGGCTGGATTAATTATAGGGTCACAGAGGCTTCACTGAAGTGACTTGTGAGGCTGGGCACAGTGGCAAACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCATATAAGGTCAGGAGTTTAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATAAAAAAAAGAAGTGACATGTGAGCAGAGACCTGCAAGAACCTGAGAATGAGAGAAAGCCATAGAGACAGAAAAGAGAAAGGTGGCTCTGAGCATAGGGCACAGCTGTGGCAAAGGCTGTCAGTGGGTACCAAGCCTGCCACGTTGCAGGGGCAGAGGAGGCCAGTGGCTTGGAGTACAGTGAAGTGAGGGGAAATGGTGGATGGTACTAGAAAGGGGTACCCTGCCTTCTCCCTCCCTCCCTCATTTTACCTCCCTCCCTCATTTTAGATGAGATCATGTGGCCAGAGGGAGATGAGGCCCTTCCAGCAGACGCCCAGGACCTCATCACCAGGTTGCTCCGGCAGAGCCCGCTGGACCGTCTGGGCACTGGTATGTAGTGTGGGGGAGAACCCAGGTGGGTGGCTCCTTCAGGCCCTGGGACCCAGGGAATGGAGGGATAGCGCCCGGGGTAGACAAGAGTTCTACTTGGGAAGCTGCATGGAGGAGGGGGTTTGCAGCTAGGGTTTTGAAGGATGCACAGGAGTTCTCCAGGAACTATCACAAGACCTTGGAAAGAATAGAAAGTAGCTGGGTCTGGTGCCCATATGGAGCACTGAGCCTGAATAAGTGTGTGAGGCTGTAAAGTCACCAGGACCTGTGTCAAAGGCCCAGCCCAGAAGATCCCACTGTCCCAGTTTTCCCAGCCACCTGGTTAATCATTAAGGGACCGTTTGAGACTCATGCAGCCACCCATCACGTGGCCACTATGGCTCCTGTTCATGACTGAGGCTTTGCTATGGGAGACGGTTGGGTCCAAGGTCGGGGATCATCACCTGCTCTGTGGAGCAGAAGTGGGAGAAGCCCGGGAAGGAGGCCCTCGTAAGGCTCTGGGCTTTCTCTAGGCGGTGTGGTCCCAGATGGCAGCAGAGAGAAGGGCAGAATCTTTGGAACCTGGGCAGCCTGGGTGCTTTTTTATTTTTTTGAGATTAGATCTCACTCTGTCACTCAGGCTGGAGTGGAGTTGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGTAGCCGGAACCACAGGCATGTGCCATCATGCCCGGCTAATTTTTATACTTTTGGTAGAGACGAAATTGAGACGAAATTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAA
Task1_train_26931
A variant was discovered in gene MAST3 (microtubule associated serine/threonine kinase 3), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Developmental and epileptic encephalopathy 108
GTTAAGAGCCTTGCATGTAGGCCAGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGCCCAGCCTGGCCAACATAGTGAAACCTTGTCTCTACTAAAAATACAAAAATCAGCTGGGAGTGGTAGCGCGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGCGGAGGTTGCAATGAGCCAAGATCGTGCCACTGCACCCAAGCCTGGGCGACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAAGCGCCTCGCATGTTTTCAGGGCATTTTGCAGTTGGCAAGTGGCTTAGAAAACAGACATGTATGTGGCACCTGCTGTATACTTGGGCCTGTGCTCGATGCTCTAAGGAACTCAGAAGCATGAATAACTCCTTACACACTAACGTTGGGTTTCTATATCACATTTTCTTGGTTGGCATGTACTTGTTAGGCACCAGGTGTATACAAAATAGGCAGAAGAACAGTTATTAGGCAATGACTGTGTACCTGGCCCAGAACACTTTATCTTTATTTATTTATTTATTTTTTGAGACAGGGACAGTCTTTGTCGCCCGGGCTGGAGTACAGTGGCGCAGTCTTGGCTCACTGCAACCTCCGCCTACCGGGTTCAAGCAATATTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACTACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGAGTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAATTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTTTTGAACTCCCGACCTCAGGTGATCTGCCGGCTTCGGCCTCCCAAAGTGCTGGGATTACAGTTGTGAGCCACTGCGCCCGGCAAATGAACTCATTTTTAAAACTCTCACGCAAGTACAGTATATACTGCTGTTTAGGTTTTCCTATGGACTTAAATATATAAATGTTTTGCTACATCATAGTGTCTTATGCACCAGCTGTATGAAGTCGCATTTCCGTGCACCTTCTGGGTGCATCTGCCACTTAAAAATACATTCCAGAGAATTCACTGTGTATAACCATCATTTAATGAACTATGTAGTCAGTACCTCCTGTTTGCTCCAGCTCTGTAAAGAAACAATTCTGTGCCGGCACTTTGGGAGGCCGAGGCAGGTGAACTACCTGAGATCAGGAGTTCAAGACCAGCCTGACCAACACGGCAAAACCCCGTCTCTACTAAAAGTACACTAAAAAAATATATATATATATACACACACACACATATACGCACACACAGTAGAGACCAGGCATGCTGGCTCACACCTGTCATGCCAGCACTTTCAAAGGTGGGAGGATTGCTTGAGGCCAGCAATTCAAGACCAGCCTGGGCAACATAGCAAGACCTTATGTCTACAAAAAAAACCTTAGCTGGGTGTGGTGGTGTGCACCTGTAGTTCCAGCTACTTGGGAGGCTGAGCAGGAGGATCGCTAGGGCCCAGGAGTTGGAGGCAGAGCTCTGCCCATCTCAGGCGGAGCCAAGGTCTAGGGCAGAAGGGGAGGCCAGGCACCCCAGCCCCCCAGCTCTGAGCACACTCCTAACCTGCCCACAGTCTGCTCATCACCTCGCTTGGCCACATCAAGCTCACGGACTTCGGCCTGTCCAAGATCGGCCTCATGAGCATGGCCACCAACCTCTATGAGGGCCACATCGAGAAGGACGCCCGAGAGTTCATCGACAAGCAGGTGGGCGGGCAGGTGGGTGGGCAGCCCCGGGATGCCTCCTCCTCTCTCCTGGGACCTCTCTTGGGCTGGGGGCTGGCCTCAGTTTCCCCGTTCTCCCTGGCCCAGGTGTGTGGGACGCCGGAGTACATAGCCCCCGAGGTGATCTTCCGCCAGGGCTATGGGAAGCCAGTGGACTGGTGGGCCATGGGCGTCGTCCTCTATGAGTTTCTGGTGGGCTGCGTGCCTTTCTTTGGAGATACCCCCGAGGAACTCTTCGGTCAGGTGGTCAGCGGTGCGTTTCCTCCACGGGCCTGGGTTTGAGCTGCAGCCCCACCAGAGCTCTGGGCAGCGGTCCTCCACCCGCATGTCAGGGAGAGAAGCAGGAAGAGGGGAGGGAGTTGGATGCCAGGTGGGGAGGCGGTGGGGTGCTGAGTGAGGCGGGTGGCTGGATTAATTATAGGGTCACAGAGGCTTCACTGAAGTGACTTGTGAGGCTGGGCACAGTGGCAAACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCATATAAGGTCAGGAGTTTAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATAAAAAAAAGAAGTGACATGTGAGCAGAGACCTGCAAGAACCTGAGAATGAGAGAAAGCCATAGAGACAGAAAAGAGAAAGGTGGCTCTGAGCATAGGGCACAGCTGTGGCAAAGGCTGTCAGTGGGTACCAAGCCTGCCACGTTGCAGGGGCAGAGGAGGCCAGTGGCTTGGAGTACAGTGAAGTGAGGGGAAATGGTGGATGGTACTAGAAAGGGGTACCCTGCCTTCTCCCTCCCTCCCTCATTTTACCTCCCTCCCTCATTTTAGATGAGATCATGTGGCCAGAGGGAGATGAGGCCCTTCCAGCAGACGCCCAGGACCTCATCACCAGGTTGCTCCGGCAGAGCCCGCTGGACCGTCTGGGCACTGGTATGTAGTGTGGGGGAGAACCCAGGTGGGTGGCTCCTTCAGGCCCTGGGACCCAGGGAATGGAGGGATAGCGCCCGGGGTAGACAAGAGTTCTACTTGGGAAGCTGCATGGAGGAGGGGGTTTGCAGCTAGGGTTTTGAAGGATGCACAGGAGTTCTCCAGGAACTATCACAAGACCTTGGAAAGAATAGAAAGTAGCTGGGTCTGGTGCCCATATGGAGCACTGAGCCTGAATAAGTGTGTGAGGCTGTAAAGTCACCAGGACCTGTGTCAAAGGCCCAGCCCAGAAGATCCCACTGTCCCAGTTTTCCCAGCCACCTGGTTAATCATTAAGGGACCGTTTGAGACTCATGCAGCCACCCATCACGTGGCCACTATGGCTCCTGTTCATGACTGAGGCTTTGCTATGGGAGACGGTTGGGTCCAAGGTCGGGGATCATCACCTGCTCTGTGGAGCAGAAGTGGGAGAAGCCCGGGAAGGAGGCCCTCGTAAGGCTCTGGGCTTTCTCTAGGCGGTGTGGTCCCAGATGGCAGCAGAGAGAAGGGCAGAATCTTTGGAACCTGGGCAGCCTGGGTGCTTTTTTATTTTTTTGAGATTAGATCTCACTCTGTCACTCAGGCTGGAGTGGAGTTGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGTAGCCGGAACCACAGGCATGTGCCATCATGCCCGGCTAATTTTTATACTTTTGGTAGAGACGAAATTGAGACGAAATTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCATGCCTGGCTGCTGGCCTGGGTTTGAATCCTGGCTTCGTCCCTCTCCAGGCTCCTAAATGACAGCGGATTTTTGTTCCCATTTTTCTGGTTCTTTGTTGTTGTTGTTGTTGTTGTTTTTTGAGACAGAGTCTTGCTTTGTTGCCCAGGTTGGAGTGCAGTGGTGCTATCTCAGCTCACTGC
GTTAAGAGCCTTGCATGTAGGCCAGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGCCCAGCCTGGCCAACATAGTGAAACCTTGTCTCTACTAAAAATACAAAAATCAGCTGGGAGTGGTAGCGCGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGCGGAGGTTGCAATGAGCCAAGATCGTGCCACTGCACCCAAGCCTGGGCGACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAAGCGCCTCGCATGTTTTCAGGGCATTTTGCAGTTGGCAAGTGGCTTAGAAAACAGACATGTATGTGGCACCTGCTGTATACTTGGGCCTGTGCTCGATGCTCTAAGGAACTCAGAAGCATGAATAACTCCTTACACACTAACGTTGGGTTTCTATATCACATTTTCTTGGTTGGCATGTACTTGTTAGGCACCAGGTGTATACAAAATAGGCAGAAGAACAGTTATTAGGCAATGACTGTGTACCTGGCCCAGAACACTTTATCTTTATTTATTTATTTATTTTTTGAGACAGGGACAGTCTTTGTCGCCCGGGCTGGAGTACAGTGGCGCAGTCTTGGCTCACTGCAACCTCCGCCTACCGGGTTCAAGCAATATTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACTACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCAGAGTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAATTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTTTTGAACTCCCGACCTCAGGTGATCTGCCGGCTTCGGCCTCCCAAAGTGCTGGGATTACAGTTGTGAGCCACTGCGCCCGGCAAATGAACTCATTTTTAAAACTCTCACGCAAGTACAGTATATACTGCTGTTTAGGTTTTCCTATGGACTTAAATATATAAATGTTTTGCTACATCATAGTGTCTTATGCACCAGCTGTATGAAGTCGCATTTCCGTGCACCTTCTGGGTGCATCTGCCACTTAAAAATACATTCCAGAGAATTCACTGTGTATAACCATCATTTAATGAACTATGTAGTCAGTACCTCCTGTTTGCTCCAGCTCTGTAAAGAAACAATTCTGTGCCGGCACTTTGGGAGGCCGAGGCAGGTGAACTACCTGAGATCAGGAGTTCAAGACCAGCCTGACCAACACGGCAAAACCCCGTCTCTACTAAAAGTACACTAAAAAAATATATATATATATACACACACACACATATACGCACACACAGTAGAGACCAGGCATGCTGGCTCACACCTGTCATGCCAGCACTTTCAAAGGTGGGAGGATTGCTTGAGGCCAGCAATTCAAGACCAGCCTGGGCAACATAGCAAGACCTTATGTCTACAAAAAAAACCTTAGCTGGGTGTGGTGGTGTGCACCTGTAGTTCCAGCTACTTGGGAGGCTGAGCAGGAGGATCGCTAGGGCCCAGGAGTTGGAGGCAGAGCTCTGCCCATCTCAGGCGGAGCCAAGGTCTAGGGCAGAAGGGGAGGCCAGGCACCCCAGCCCCCCAGCTCTGAGCACACTCCTAACCTGCCCACAGTCTGCTCATCACCTCGCTTGGCCACATCAAGCTCACGGACTTCGGCCTGTCCAAGATCGGCCTCATGAGCATGGCCACCAACCTCTATGAGGGCCACATCGAGAAGGACGCCCGAGAGTTCATCGACAAGCAGGTGGGCGGGCAGGTGGGTGGGCAGCCCCGGGATGCCTCCTCCTCTCTCCTGGGACCTCTCTTGGGCTGGGGGCTGGCCTCAGTTTCCCCGTTCTCCCTGGCCCAGGTGTGTGGGACGCCGGAGTACATAGCCCCCGAGTTGATCTTCCGCCAGGGCTATGGGAAGCCAGTGGACTGGTGGGCCATGGGCGTCGTCCTCTATGAGTTTCTGGTGGGCTGCGTGCCTTTCTTTGGAGATACCCCCGAGGAACTCTTCGGTCAGGTGGTCAGCGGTGCGTTTCCTCCACGGGCCTGGGTTTGAGCTGCAGCCCCACCAGAGCTCTGGGCAGCGGTCCTCCACCCGCATGTCAGGGAGAGAAGCAGGAAGAGGGGAGGGAGTTGGATGCCAGGTGGGGAGGCGGTGGGGTGCTGAGTGAGGCGGGTGGCTGGATTAATTATAGGGTCACAGAGGCTTCACTGAAGTGACTTGTGAGGCTGGGCACAGTGGCAAACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCATATAAGGTCAGGAGTTTAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATAAAAAAAAGAAGTGACATGTGAGCAGAGACCTGCAAGAACCTGAGAATGAGAGAAAGCCATAGAGACAGAAAAGAGAAAGGTGGCTCTGAGCATAGGGCACAGCTGTGGCAAAGGCTGTCAGTGGGTACCAAGCCTGCCACGTTGCAGGGGCAGAGGAGGCCAGTGGCTTGGAGTACAGTGAAGTGAGGGGAAATGGTGGATGGTACTAGAAAGGGGTACCCTGCCTTCTCCCTCCCTCCCTCATTTTACCTCCCTCCCTCATTTTAGATGAGATCATGTGGCCAGAGGGAGATGAGGCCCTTCCAGCAGACGCCCAGGACCTCATCACCAGGTTGCTCCGGCAGAGCCCGCTGGACCGTCTGGGCACTGGTATGTAGTGTGGGGGAGAACCCAGGTGGGTGGCTCCTTCAGGCCCTGGGACCCAGGGAATGGAGGGATAGCGCCCGGGGTAGACAAGAGTTCTACTTGGGAAGCTGCATGGAGGAGGGGGTTTGCAGCTAGGGTTTTGAAGGATGCACAGGAGTTCTCCAGGAACTATCACAAGACCTTGGAAAGAATAGAAAGTAGCTGGGTCTGGTGCCCATATGGAGCACTGAGCCTGAATAAGTGTGTGAGGCTGTAAAGTCACCAGGACCTGTGTCAAAGGCCCAGCCCAGAAGATCCCACTGTCCCAGTTTTCCCAGCCACCTGGTTAATCATTAAGGGACCGTTTGAGACTCATGCAGCCACCCATCACGTGGCCACTATGGCTCCTGTTCATGACTGAGGCTTTGCTATGGGAGACGGTTGGGTCCAAGGTCGGGGATCATCACCTGCTCTGTGGAGCAGAAGTGGGAGAAGCCCGGGAAGGAGGCCCTCGTAAGGCTCTGGGCTTTCTCTAGGCGGTGTGGTCCCAGATGGCAGCAGAGAGAAGGGCAGAATCTTTGGAACCTGGGCAGCCTGGGTGCTTTTTTATTTTTTTGAGATTAGATCTCACTCTGTCACTCAGGCTGGAGTGGAGTTGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGTAGCCGGAACCACAGGCATGTGCCATCATGCCCGGCTAATTTTTATACTTTTGGTAGAGACGAAATTGAGACGAAATTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCATGCCTGGCTGCTGGCCTGGGTTTGAATCCTGGCTTCGTCCCTCTCCAGGCTCCTAAATGACAGCGGATTTTTGTTCCCATTTTTCTGGTTCTTTGTTGTTGTTGTTGTTGTTGTTTTTTGAGACAGAGTCTTGCTTTGTTGCCCAGGTTGGAGTGCAGTGGTGCTATCTCAGCTCACTGC
Task1_train_26932
Here’s a variant in PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
CAGCGAATCTCACTACCGCCCGGAGCTGCCCGCACCGCGTACAGGTGAAGGGGAGCCTCAATGGGGTTGGGAGGAGGCTGGGGGCCCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCACCCTGCCCTGGCCATCTGTCCGCAGAGGCCGCGGGGCCCGTGGGGCCGGCGCTGGAGCCACCGACGCTGCCGCTGCACCGCGCGCTCACGCTGCGCTTCCTGCTCCAGCACCTGGGCCGCGTGGCCAGCCGCGCCCCGGCCCTGGGTCCCGCGGTCCGGGCCCTGGGCGCCACCTTTGGGCCGCTGCTGCTGCGCGCGCCGCCGCCGCCGTCCTCGCCGCCGCCAGGGGGCGCTCCCGACGGGTGAGGGGCGGGGCGGAGCCGGAGCGAGCAGGGGTGGAGTTTGGGGTGGGGCGGGCGGGGCATGGCCAGAGTGAGCGGCGTCTAGACCCTAAGAAGGGAGGGGATGGGGTCCAGAGTGAGAAGCTGCGTTCTTGTGATGACGGAGCGGAGACCTGGGCTCCTGAGTCGTGGGACAGAAGGTGAAGGGGCCTAGTCCCGAAGCATGTGGGTGGTGCCTGCACCTTCCCTTCTGCTCGTCGCAGCTCCGGTACTGGTCTCTCGCTCGCCTTTGTGTGAGAATCTATGGAGCACTTACTGCATACAGCTATGAGGGAGCTGGCCTCGCACATGTGCCTGTATCATCTCCTCCTCCGCCCTGCACATACTGTCTCGTATATACCCCCAGGCGTGCAAGCGCACGCACAATCCTGTGCACATGCGTGGGCGGACAGGCCCTACCCAGCCCTCACCACACTCCCCTTCCCCCTAAGGAGTGAGCCCAGCCCTGACTTCCCGGCGCTGCTGGTGGAGAAGCTGCTTCAGGAACACTTGGAAGAGCAGGAGGTTGCGCCCCCAGGTGAGTCCCCTGTATTGCTGTCATTTCTTCCCGTTGGGGGCCGTAAATACTGATCCCTGAGTGCTGCCGGCATCAGCAGGCTGGTTGCAGTGGGAGGCAGCCACAGTATACAGTCGGTGCTCAGGATGCATTTGTTTTCCTGTCCCCCAGCGCTGCCGCCTAAACCCCCCAAGGCAAAGCCGGCCTCCACAGTCCTGGCCAATGGAGGGAGCCCACCCTCCCTGCAGGATGCTGAGTGGTACTGGGGGGACATTTCAAGGTAGGTTGCTGGCAGGGGGCCAGGGACCAAGGAGGTGTCACAGGGTGAGCGGGGTCTCCAGGTGGCTCGGCAGTCCCAATGTTGGATGTTCCCACAGGGAGGAGGTGAACGAGAAACTCCGGGACACTCCCGATGGCACCTTCCTAGTCCGAGATGCTTCTAGCAAGATCCAGGGCGAGTACACGCTGACCCTCAGGTGGGGGCCTGTCCCTGCAAGGATAACCGGGGGTCACAGGTCACAGAGACCGGGAGTTCAGAGGGGATAGAACATGTGCGGTTTCAAGAATGGAGGGCCAGGCACGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGCAGAACACCTGAGGTCAGGAGTTTAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAATTAAAAAAAAAAATTAGCCAGGCATGGTGATGGATGCCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAAATCGCACCACTGCACTGCAGCCTGGACAACAGAGCAGCAAGACTCTGTCTCAAAAAAAAAGGGGACAGGGATTGAGGGTCAGGTGCGGGGTCCCACTGGGTGCCGACACCCCTCTCCTCCCCCAGGAAAGGCGGGAACAATAAGCTGATCAAGGTCTTCCACCGAGATGGGCACTATGGCTTCTCAGAGCCACTCACCTTCTGCTCCGTTGTGGACCTCATCAATCACTACCGCCACGAGTCTCTGGCCCAGTACAATGCCAAGCTGGACACACGGCTCCTCTACCCTGTGTCCAAATACCAGCAGGTCCGTGCTGGCCTGGGAGCCAGGGAGGGTAGCACCTGGCTGGCCCCAGGCCTCAGTTTCCTAGGTAGACCCGACCAGGCTATGCATCTCCCCTCATTCCGCCACGTATCTCCAGGACCAGATTGTCAAGGAGGACAGCGTGGAGGCAGTGGGCGCCCAGCTTAAGGTCTATCACCAGCAGTACCAGGACAAGAGCCGCGAGTATGACCAGCTTTATGAAGAGTACACACGGACCTCCCAGGTACTCCAGGCCCCGTACATGAGGGAAACCGAGACATAGAGGGGCAGTGGCAAGGCCGGGAGCAGGATGACCAACCCCAGAGGACTTGAGGATGAATATCCAGTTGCAGGTCACAGAGCAGGCACTTAGCACCAAGGGCTGTTCTAAAAACATAGAAATAAGGCCAGGCACAGTGGCTCCCGTCTGTGTACTTGGGAGGCAGAGACAGGAGGATCACTTGAGCCCAACAGTTCAAGATCCTTCTAGGCAACATAGGGAGACCCGTCTACAAAAAAATTTAAAAATTAACTGGGTGTCGTGGTGCATGCTTCTACTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCCTGGGAGTTTGAGGCTGCATTGAATTGTGATCATGCTGCTGCACTCCAGCCTGGGTGACAGGGCACGACCTTGTCTCTAAAAACAGAAATAAGCGTACGAGGCTGGGTGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACTTGGCCAACATGTTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAATCCCAGCTACTCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGAGATTGCAATGAGCCAAGATCGTGCTACTACACTCCAGCCTGGGTGACAAGAGTAAAACTCCATCTAAAAAAATAATAATAATTAAAATAAAAAAATAAGTGTACAAGCTTTTACAAAACCAAAAAAGGACAGATGAGAAGGGCCCAACCAGCCTCACAGGAGTGGCTGAGCCAGGACCTGGGGAGTGTCCAGGATGAGCCTATCTCCGGCTGGCCCTCAGTTTTCCCATCTGCAGAATGGAACCAGGCACCTTGATTACTTATGTCCCCTTCAACCAAGATGTTATTCAAAATGAAATCATGCCAGGTGCAGGGCGCGCACCTCTAATCCCAGCTACTCGGAAGGCTGAGGCGGGAGGATCGCTTGAGCCCAGGAGTTCAAGACTAGCCTGGGTAACATAGCAAGACTTTGTCTCTTAAAAAAATAAAATAAAAATTAAGTGAAAGGTTTTGTCACTCAAGGACTGTGCTAATAAGCTTCTTTTGCAAGTTAAGAGGGAATAGATTCAGGTGGAACAGCTGGGAATTCCTCAGTCGTCCCTAGTACCCTAAGGGTTTTCTGTCCTCTTTTTTTTGTTTTGTTTTTTTTTTTTTGAGACAGTGTCTTGCTCTGTCATCCAGGCTAGAGTGCTGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCACGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGGCTGCCTCGGCCTCCCAAAGTTAAAAAAAAAAAAAGAAAAAAAAAATTTAATAAAATTAAAAGGTAGGCCGGGCACAGTGACTCATGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATCTGAGGTCAGGA
CAGCGAATCTCACTACCGCCCGGAGCTGCCCGCACCGCGTACAGGTGAAGGGGAGCCTCAATGGGGTTGGGAGGAGGCTGGGGGCCCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCACCCTGCCCTGGCCATCTGTCCGCAGAGGCCGCGGGGCCCGTGGGGCCGGCGCTGGAGCCACCGACGCTGCCGCTGCACCGCGCGCTCACGCTGCGCTTCCTGCTCCAGCACCTGGGCCGCGTGGCCAGCCGCGCCCCGGCCCTGGGTCCCGCGGTCCGGGCCCTGGGCGCCACCTTTGGGCCGCTGCTGCTGCGCGCGCCGCCGCCGCCGTCCTCGCCGCCGCCAGGGGGCGCTCCCGACGGGTGAGGGGCGGGGCGGAGCCGGAGCGAGCAGGGGTGGAGTTTGGGGTGGGGCGGGCGGGGCATGGCCAGAGTGAGCGGCGTCTAGACCCTAAGAAGGGAGGGGATGGGGTCCAGAGTGAGAAGCTGCGTTCTTGTGATGACGGAGCGGAGACCTGGGCTCCTGAGTCGTGGGACAGAAGGTGAAGGGGCCTAGTCCCGAAGCATGTGGGTGGTGCCTGCACCTTCCCTTCTGCTCGTCGCAGCTCCGGTACTGGTCTCTCGCTCGCCTTTGTGTGAGAATCTATGGAGCACTTACTGCATACAGCTATGAGGGAGCTGGCCTCGCACATGTGCCTGTATCATCTCCTCCTCCGCCCTGCACATACTGTCTCGTATATACCCCCAGGCGTGCAAGCGCACGCACAATCCTGTGCACATGCGTGGGCGGACAGGCCCTACCCAGCCCTCACCACACTCCCCTTCCCCCTAAGGAGTGAGCCCAGCCCTGACTTCCCGGCGCTGCTGGTGGAGAAGCTGCTTCAGGAACACTTGGAAGAGCAGGAGGTTGCGCCCCCAGGTGAGTCCCCTGTATTGCTGTCATTTCTTCCCGTTGGGGGCCGTAAATACTGATCCCTGAGTGCTGCCGGCATCAGCAGGCTGGTTGCAGTGGGAGGCAGCCACAGTATACAGTCGGTGCTCAGGATGCATTTGTTTTCCTGTCCCCCAGCGCTGCCGCCTAAACCCCCCAAGGCAAAGCCGGCCTCCACAGTCCTGGCCAATGGAGGGAGCCCACCCTCCCTGCAGGATGCTGAGTGGTACTGGGGGGACATTTCAAGGTAGGTTGCTGGCAGGGGGCCAGGGACCAAGGAGGTGTCACAGGGTGAGCGGGGTCTCCAGGTGGCTCGGCAGTCCCAATGTTGGATGTTCCCACAGGGAGGAGGTGAACGAGAAACTCCGGGACACTCCCGATGGCACCTTCCTAGTCCGAGATGCTTCTAGCAAGATCCAGGGCGAGTACACGCTGACCCTCAGGTGGGGGCCTGTCCCTGCAAGGATAACCGGGGGTCACAGGTCACAGAGACCGGGAGTTCAGAGGGGATAGAACATGTGCGGTTTCAAGAATGGAGGGCCAGGCACGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGCAGAACACCTGAGGTCAGGAGTTTAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAATTAAAAAAAAAAATTAGCCAGGCATGGTGATGGATGCCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAAATCGCACCACTGCACTGCAGCCTGGACAACAGAGCAGCAAGACTCTGTCTCAAAAAAAAAGGGGACAGGGATTGAGGGTCAGGTGCGGGGTCCCACTGGGTGCCGACACCCCTCTCCTCCCCCAGGAAAGGCAGGAACAATAAGCTGATCAAGGTCTTCCACCGAGATGGGCACTATGGCTTCTCAGAGCCACTCACCTTCTGCTCCGTTGTGGACCTCATCAATCACTACCGCCACGAGTCTCTGGCCCAGTACAATGCCAAGCTGGACACACGGCTCCTCTACCCTGTGTCCAAATACCAGCAGGTCCGTGCTGGCCTGGGAGCCAGGGAGGGTAGCACCTGGCTGGCCCCAGGCCTCAGTTTCCTAGGTAGACCCGACCAGGCTATGCATCTCCCCTCATTCCGCCACGTATCTCCAGGACCAGATTGTCAAGGAGGACAGCGTGGAGGCAGTGGGCGCCCAGCTTAAGGTCTATCACCAGCAGTACCAGGACAAGAGCCGCGAGTATGACCAGCTTTATGAAGAGTACACACGGACCTCCCAGGTACTCCAGGCCCCGTACATGAGGGAAACCGAGACATAGAGGGGCAGTGGCAAGGCCGGGAGCAGGATGACCAACCCCAGAGGACTTGAGGATGAATATCCAGTTGCAGGTCACAGAGCAGGCACTTAGCACCAAGGGCTGTTCTAAAAACATAGAAATAAGGCCAGGCACAGTGGCTCCCGTCTGTGTACTTGGGAGGCAGAGACAGGAGGATCACTTGAGCCCAACAGTTCAAGATCCTTCTAGGCAACATAGGGAGACCCGTCTACAAAAAAATTTAAAAATTAACTGGGTGTCGTGGTGCATGCTTCTACTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCCTGGGAGTTTGAGGCTGCATTGAATTGTGATCATGCTGCTGCACTCCAGCCTGGGTGACAGGGCACGACCTTGTCTCTAAAAACAGAAATAAGCGTACGAGGCTGGGTGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACTTGGCCAACATGTTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAATCCCAGCTACTCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGAGATTGCAATGAGCCAAGATCGTGCTACTACACTCCAGCCTGGGTGACAAGAGTAAAACTCCATCTAAAAAAATAATAATAATTAAAATAAAAAAATAAGTGTACAAGCTTTTACAAAACCAAAAAAGGACAGATGAGAAGGGCCCAACCAGCCTCACAGGAGTGGCTGAGCCAGGACCTGGGGAGTGTCCAGGATGAGCCTATCTCCGGCTGGCCCTCAGTTTTCCCATCTGCAGAATGGAACCAGGCACCTTGATTACTTATGTCCCCTTCAACCAAGATGTTATTCAAAATGAAATCATGCCAGGTGCAGGGCGCGCACCTCTAATCCCAGCTACTCGGAAGGCTGAGGCGGGAGGATCGCTTGAGCCCAGGAGTTCAAGACTAGCCTGGGTAACATAGCAAGACTTTGTCTCTTAAAAAAATAAAATAAAAATTAAGTGAAAGGTTTTGTCACTCAAGGACTGTGCTAATAAGCTTCTTTTGCAAGTTAAGAGGGAATAGATTCAGGTGGAACAGCTGGGAATTCCTCAGTCGTCCCTAGTACCCTAAGGGTTTTCTGTCCTCTTTTTTTTGTTTTGTTTTTTTTTTTTTGAGACAGTGTCTTGCTCTGTCATCCAGGCTAGAGTGCTGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCACGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGGCTGCCTCGGCCTCCCAAAGTTAAAAAAAAAAAAAGAAAAAAAAAATTTAATAAAATTAAAAGGTAGGCCGGGCACAGTGACTCATGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATCTGAGGTCAGGA
Task1_train_26933
Given this context: Chromosome 19, gene PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; PIK3R2-related disorder
TCACTACCGCCCGGAGCTGCCCGCACCGCGTACAGGTGAAGGGGAGCCTCAATGGGGTTGGGAGGAGGCTGGGGGCCCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCACCCTGCCCTGGCCATCTGTCCGCAGAGGCCGCGGGGCCCGTGGGGCCGGCGCTGGAGCCACCGACGCTGCCGCTGCACCGCGCGCTCACGCTGCGCTTCCTGCTCCAGCACCTGGGCCGCGTGGCCAGCCGCGCCCCGGCCCTGGGTCCCGCGGTCCGGGCCCTGGGCGCCACCTTTGGGCCGCTGCTGCTGCGCGCGCCGCCGCCGCCGTCCTCGCCGCCGCCAGGGGGCGCTCCCGACGGGTGAGGGGCGGGGCGGAGCCGGAGCGAGCAGGGGTGGAGTTTGGGGTGGGGCGGGCGGGGCATGGCCAGAGTGAGCGGCGTCTAGACCCTAAGAAGGGAGGGGATGGGGTCCAGAGTGAGAAGCTGCGTTCTTGTGATGACGGAGCGGAGACCTGGGCTCCTGAGTCGTGGGACAGAAGGTGAAGGGGCCTAGTCCCGAAGCATGTGGGTGGTGCCTGCACCTTCCCTTCTGCTCGTCGCAGCTCCGGTACTGGTCTCTCGCTCGCCTTTGTGTGAGAATCTATGGAGCACTTACTGCATACAGCTATGAGGGAGCTGGCCTCGCACATGTGCCTGTATCATCTCCTCCTCCGCCCTGCACATACTGTCTCGTATATACCCCCAGGCGTGCAAGCGCACGCACAATCCTGTGCACATGCGTGGGCGGACAGGCCCTACCCAGCCCTCACCACACTCCCCTTCCCCCTAAGGAGTGAGCCCAGCCCTGACTTCCCGGCGCTGCTGGTGGAGAAGCTGCTTCAGGAACACTTGGAAGAGCAGGAGGTTGCGCCCCCAGGTGAGTCCCCTGTATTGCTGTCATTTCTTCCCGTTGGGGGCCGTAAATACTGATCCCTGAGTGCTGCCGGCATCAGCAGGCTGGTTGCAGTGGGAGGCAGCCACAGTATACAGTCGGTGCTCAGGATGCATTTGTTTTCCTGTCCCCCAGCGCTGCCGCCTAAACCCCCCAAGGCAAAGCCGGCCTCCACAGTCCTGGCCAATGGAGGGAGCCCACCCTCCCTGCAGGATGCTGAGTGGTACTGGGGGGACATTTCAAGGTAGGTTGCTGGCAGGGGGCCAGGGACCAAGGAGGTGTCACAGGGTGAGCGGGGTCTCCAGGTGGCTCGGCAGTCCCAATGTTGGATGTTCCCACAGGGAGGAGGTGAACGAGAAACTCCGGGACACTCCCGATGGCACCTTCCTAGTCCGAGATGCTTCTAGCAAGATCCAGGGCGAGTACACGCTGACCCTCAGGTGGGGGCCTGTCCCTGCAAGGATAACCGGGGGTCACAGGTCACAGAGACCGGGAGTTCAGAGGGGATAGAACATGTGCGGTTTCAAGAATGGAGGGCCAGGCACGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGCAGAACACCTGAGGTCAGGAGTTTAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAATTAAAAAAAAAAATTAGCCAGGCATGGTGATGGATGCCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAAATCGCACCACTGCACTGCAGCCTGGACAACAGAGCAGCAAGACTCTGTCTCAAAAAAAAAGGGGACAGGGATTGAGGGTCAGGTGCGGGGTCCCACTGGGTGCCGACACCCCTCTCCTCCCCCAGGAAAGGCGGGAACAATAAGCTGATCAAGGTCTTCCACCGAGATGGGCACTATGGCTTCTCAGAGCCACTCACCTTCTGCTCCGTTGTGGACCTCATCAATCACTACCGCCACGAGTCTCTGGCCCAGTACAATGCCAAGCTGGACACACGGCTCCTCTACCCTGTGTCCAAATACCAGCAGGTCCGTGCTGGCCTGGGAGCCAGGGAGGGTAGCACCTGGCTGGCCCCAGGCCTCAGTTTCCTAGGTAGACCCGACCAGGCTATGCATCTCCCCTCATTCCGCCACGTATCTCCAGGACCAGATTGTCAAGGAGGACAGCGTGGAGGCAGTGGGCGCCCAGCTTAAGGTCTATCACCAGCAGTACCAGGACAAGAGCCGCGAGTATGACCAGCTTTATGAAGAGTACACACGGACCTCCCAGGTACTCCAGGCCCCGTACATGAGGGAAACCGAGACATAGAGGGGCAGTGGCAAGGCCGGGAGCAGGATGACCAACCCCAGAGGACTTGAGGATGAATATCCAGTTGCAGGTCACAGAGCAGGCACTTAGCACCAAGGGCTGTTCTAAAAACATAGAAATAAGGCCAGGCACAGTGGCTCCCGTCTGTGTACTTGGGAGGCAGAGACAGGAGGATCACTTGAGCCCAACAGTTCAAGATCCTTCTAGGCAACATAGGGAGACCCGTCTACAAAAAAATTTAAAAATTAACTGGGTGTCGTGGTGCATGCTTCTACTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCCTGGGAGTTTGAGGCTGCATTGAATTGTGATCATGCTGCTGCACTCCAGCCTGGGTGACAGGGCACGACCTTGTCTCTAAAAACAGAAATAAGCGTACGAGGCTGGGTGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACTTGGCCAACATGTTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAATCCCAGCTACTCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGAGATTGCAATGAGCCAAGATCGTGCTACTACACTCCAGCCTGGGTGACAAGAGTAAAACTCCATCTAAAAAAATAATAATAATTAAAATAAAAAAATAAGTGTACAAGCTTTTACAAAACCAAAAAAGGACAGATGAGAAGGGCCCAACCAGCCTCACAGGAGTGGCTGAGCCAGGACCTGGGGAGTGTCCAGGATGAGCCTATCTCCGGCTGGCCCTCAGTTTTCCCATCTGCAGAATGGAACCAGGCACCTTGATTACTTATGTCCCCTTCAACCAAGATGTTATTCAAAATGAAATCATGCCAGGTGCAGGGCGCGCACCTCTAATCCCAGCTACTCGGAAGGCTGAGGCGGGAGGATCGCTTGAGCCCAGGAGTTCAAGACTAGCCTGGGTAACATAGCAAGACTTTGTCTCTTAAAAAAATAAAATAAAAATTAAGTGAAAGGTTTTGTCACTCAAGGACTGTGCTAATAAGCTTCTTTTGCAAGTTAAGAGGGAATAGATTCAGGTGGAACAGCTGGGAATTCCTCAGTCGTCCCTAGTACCCTAAGGGTTTTCTGTCCTCTTTTTTTTGTTTTGTTTTTTTTTTTTTGAGACAGTGTCTTGCTCTGTCATCCAGGCTAGAGTGCTGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCACGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGGCTGCCTCGGCCTCCCAAAGTTAAAAAAAAAAAAAGAAAAAAAAAATTTAATAAAATTAAAAGGTAGGCCGGGCACAGTGACTCATGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATCTGAGGTCAGGAGTTTGAGAC
TCACTACCGCCCGGAGCTGCCCGCACCGCGTACAGGTGAAGGGGAGCCTCAATGGGGTTGGGAGGAGGCTGGGGGCCCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCACCCTGCCCTGGCCATCTGTCCGCAGAGGCCGCGGGGCCCGTGGGGCCGGCGCTGGAGCCACCGACGCTGCCGCTGCACCGCGCGCTCACGCTGCGCTTCCTGCTCCAGCACCTGGGCCGCGTGGCCAGCCGCGCCCCGGCCCTGGGTCCCGCGGTCCGGGCCCTGGGCGCCACCTTTGGGCCGCTGCTGCTGCGCGCGCCGCCGCCGCCGTCCTCGCCGCCGCCAGGGGGCGCTCCCGACGGGTGAGGGGCGGGGCGGAGCCGGAGCGAGCAGGGGTGGAGTTTGGGGTGGGGCGGGCGGGGCATGGCCAGAGTGAGCGGCGTCTAGACCCTAAGAAGGGAGGGGATGGGGTCCAGAGTGAGAAGCTGCGTTCTTGTGATGACGGAGCGGAGACCTGGGCTCCTGAGTCGTGGGACAGAAGGTGAAGGGGCCTAGTCCCGAAGCATGTGGGTGGTGCCTGCACCTTCCCTTCTGCTCGTCGCAGCTCCGGTACTGGTCTCTCGCTCGCCTTTGTGTGAGAATCTATGGAGCACTTACTGCATACAGCTATGAGGGAGCTGGCCTCGCACATGTGCCTGTATCATCTCCTCCTCCGCCCTGCACATACTGTCTCGTATATACCCCCAGGCGTGCAAGCGCACGCACAATCCTGTGCACATGCGTGGGCGGACAGGCCCTACCCAGCCCTCACCACACTCCCCTTCCCCCTAAGGAGTGAGCCCAGCCCTGACTTCCCGGCGCTGCTGGTGGAGAAGCTGCTTCAGGAACACTTGGAAGAGCAGGAGGTTGCGCCCCCAGGTGAGTCCCCTGTATTGCTGTCATTTCTTCCCGTTGGGGGCCGTAAATACTGATCCCTGAGTGCTGCCGGCATCAGCAGGCTGGTTGCAGTGGGAGGCAGCCACAGTATACAGTCGGTGCTCAGGATGCATTTGTTTTCCTGTCCCCCAGCGCTGCCGCCTAAACCCCCCAAGGCAAAGCCGGCCTCCACAGTCCTGGCCAATGGAGGGAGCCCACCCTCCCTGCAGGATGCTGAGTGGTACTGGGGGGACATTTCAAGGTAGGTTGCTGGCAGGGGGCCAGGGACCAAGGAGGTGTCACAGGGTGAGCGGGGTCTCCAGGTGGCTCGGCAGTCCCAATGTTGGATGTTCCCACAGGGAGGAGGTGAACGAGAAACTCCGGGACACTCCCGATGGCACCTTCCTAGTCCGAGATGCTTCTAGCAAGATCCAGGGCGAGTACACGCTGACCCTCAGGTGGGGGCCTGTCCCTGCAAGGATAACCGGGGGTCACAGGTCACAGAGACCGGGAGTTCAGAGGGGATAGAACATGTGCGGTTTCAAGAATGGAGGGCCAGGCACGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGCAGAACACCTGAGGTCAGGAGTTTAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAATTAAAAAAAAAAATTAGCCAGGCATGGTGATGGATGCCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAAATCGCACCACTGCACTGCAGCCTGGACAACAGAGCAGCAAGACTCTGTCTCAAAAAAAAAGGGGACAGGGATTGAGGGTCAGGTGCGGGGTCCCACTGGGTGCCGACACCCCTCTCCTCCCCCAGGAAAGGCGGGAACAATGAGCTGATCAAGGTCTTCCACCGAGATGGGCACTATGGCTTCTCAGAGCCACTCACCTTCTGCTCCGTTGTGGACCTCATCAATCACTACCGCCACGAGTCTCTGGCCCAGTACAATGCCAAGCTGGACACACGGCTCCTCTACCCTGTGTCCAAATACCAGCAGGTCCGTGCTGGCCTGGGAGCCAGGGAGGGTAGCACCTGGCTGGCCCCAGGCCTCAGTTTCCTAGGTAGACCCGACCAGGCTATGCATCTCCCCTCATTCCGCCACGTATCTCCAGGACCAGATTGTCAAGGAGGACAGCGTGGAGGCAGTGGGCGCCCAGCTTAAGGTCTATCACCAGCAGTACCAGGACAAGAGCCGCGAGTATGACCAGCTTTATGAAGAGTACACACGGACCTCCCAGGTACTCCAGGCCCCGTACATGAGGGAAACCGAGACATAGAGGGGCAGTGGCAAGGCCGGGAGCAGGATGACCAACCCCAGAGGACTTGAGGATGAATATCCAGTTGCAGGTCACAGAGCAGGCACTTAGCACCAAGGGCTGTTCTAAAAACATAGAAATAAGGCCAGGCACAGTGGCTCCCGTCTGTGTACTTGGGAGGCAGAGACAGGAGGATCACTTGAGCCCAACAGTTCAAGATCCTTCTAGGCAACATAGGGAGACCCGTCTACAAAAAAATTTAAAAATTAACTGGGTGTCGTGGTGCATGCTTCTACTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCCTGGGAGTTTGAGGCTGCATTGAATTGTGATCATGCTGCTGCACTCCAGCCTGGGTGACAGGGCACGACCTTGTCTCTAAAAACAGAAATAAGCGTACGAGGCTGGGTGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACTTGGCCAACATGTTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAATCCCAGCTACTCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGAGATTGCAATGAGCCAAGATCGTGCTACTACACTCCAGCCTGGGTGACAAGAGTAAAACTCCATCTAAAAAAATAATAATAATTAAAATAAAAAAATAAGTGTACAAGCTTTTACAAAACCAAAAAAGGACAGATGAGAAGGGCCCAACCAGCCTCACAGGAGTGGCTGAGCCAGGACCTGGGGAGTGTCCAGGATGAGCCTATCTCCGGCTGGCCCTCAGTTTTCCCATCTGCAGAATGGAACCAGGCACCTTGATTACTTATGTCCCCTTCAACCAAGATGTTATTCAAAATGAAATCATGCCAGGTGCAGGGCGCGCACCTCTAATCCCAGCTACTCGGAAGGCTGAGGCGGGAGGATCGCTTGAGCCCAGGAGTTCAAGACTAGCCTGGGTAACATAGCAAGACTTTGTCTCTTAAAAAAATAAAATAAAAATTAAGTGAAAGGTTTTGTCACTCAAGGACTGTGCTAATAAGCTTCTTTTGCAAGTTAAGAGGGAATAGATTCAGGTGGAACAGCTGGGAATTCCTCAGTCGTCCCTAGTACCCTAAGGGTTTTCTGTCCTCTTTTTTTTGTTTTGTTTTTTTTTTTTTGAGACAGTGTCTTGCTCTGTCATCCAGGCTAGAGTGCTGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCACGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGGCTGCCTCGGCCTCCCAAAGTTAAAAAAAAAAAAAGAAAAAAAAAATTTAATAAAATTAAAAGGTAGGCCGGGCACAGTGACTCATGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATCTGAGGTCAGGAGTTTGAGAC
Task1_train_26934
Given this context: Chromosome 19, gene PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
TCACTACCGCCCGGAGCTGCCCGCACCGCGTACAGGTGAAGGGGAGCCTCAATGGGGTTGGGAGGAGGCTGGGGGCCCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCACCCTGCCCTGGCCATCTGTCCGCAGAGGCCGCGGGGCCCGTGGGGCCGGCGCTGGAGCCACCGACGCTGCCGCTGCACCGCGCGCTCACGCTGCGCTTCCTGCTCCAGCACCTGGGCCGCGTGGCCAGCCGCGCCCCGGCCCTGGGTCCCGCGGTCCGGGCCCTGGGCGCCACCTTTGGGCCGCTGCTGCTGCGCGCGCCGCCGCCGCCGTCCTCGCCGCCGCCAGGGGGCGCTCCCGACGGGTGAGGGGCGGGGCGGAGCCGGAGCGAGCAGGGGTGGAGTTTGGGGTGGGGCGGGCGGGGCATGGCCAGAGTGAGCGGCGTCTAGACCCTAAGAAGGGAGGGGATGGGGTCCAGAGTGAGAAGCTGCGTTCTTGTGATGACGGAGCGGAGACCTGGGCTCCTGAGTCGTGGGACAGAAGGTGAAGGGGCCTAGTCCCGAAGCATGTGGGTGGTGCCTGCACCTTCCCTTCTGCTCGTCGCAGCTCCGGTACTGGTCTCTCGCTCGCCTTTGTGTGAGAATCTATGGAGCACTTACTGCATACAGCTATGAGGGAGCTGGCCTCGCACATGTGCCTGTATCATCTCCTCCTCCGCCCTGCACATACTGTCTCGTATATACCCCCAGGCGTGCAAGCGCACGCACAATCCTGTGCACATGCGTGGGCGGACAGGCCCTACCCAGCCCTCACCACACTCCCCTTCCCCCTAAGGAGTGAGCCCAGCCCTGACTTCCCGGCGCTGCTGGTGGAGAAGCTGCTTCAGGAACACTTGGAAGAGCAGGAGGTTGCGCCCCCAGGTGAGTCCCCTGTATTGCTGTCATTTCTTCCCGTTGGGGGCCGTAAATACTGATCCCTGAGTGCTGCCGGCATCAGCAGGCTGGTTGCAGTGGGAGGCAGCCACAGTATACAGTCGGTGCTCAGGATGCATTTGTTTTCCTGTCCCCCAGCGCTGCCGCCTAAACCCCCCAAGGCAAAGCCGGCCTCCACAGTCCTGGCCAATGGAGGGAGCCCACCCTCCCTGCAGGATGCTGAGTGGTACTGGGGGGACATTTCAAGGTAGGTTGCTGGCAGGGGGCCAGGGACCAAGGAGGTGTCACAGGGTGAGCGGGGTCTCCAGGTGGCTCGGCAGTCCCAATGTTGGATGTTCCCACAGGGAGGAGGTGAACGAGAAACTCCGGGACACTCCCGATGGCACCTTCCTAGTCCGAGATGCTTCTAGCAAGATCCAGGGCGAGTACACGCTGACCCTCAGGTGGGGGCCTGTCCCTGCAAGGATAACCGGGGGTCACAGGTCACAGAGACCGGGAGTTCAGAGGGGATAGAACATGTGCGGTTTCAAGAATGGAGGGCCAGGCACGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGCAGAACACCTGAGGTCAGGAGTTTAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAATTAAAAAAAAAAATTAGCCAGGCATGGTGATGGATGCCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAAATCGCACCACTGCACTGCAGCCTGGACAACAGAGCAGCAAGACTCTGTCTCAAAAAAAAAGGGGACAGGGATTGAGGGTCAGGTGCGGGGTCCCACTGGGTGCCGACACCCCTCTCCTCCCCCAGGAAAGGCGGGAACAATAAGCTGATCAAGGTCTTCCACCGAGATGGGCACTATGGCTTCTCAGAGCCACTCACCTTCTGCTCCGTTGTGGACCTCATCAATCACTACCGCCACGAGTCTCTGGCCCAGTACAATGCCAAGCTGGACACACGGCTCCTCTACCCTGTGTCCAAATACCAGCAGGTCCGTGCTGGCCTGGGAGCCAGGGAGGGTAGCACCTGGCTGGCCCCAGGCCTCAGTTTCCTAGGTAGACCCGACCAGGCTATGCATCTCCCCTCATTCCGCCACGTATCTCCAGGACCAGATTGTCAAGGAGGACAGCGTGGAGGCAGTGGGCGCCCAGCTTAAGGTCTATCACCAGCAGTACCAGGACAAGAGCCGCGAGTATGACCAGCTTTATGAAGAGTACACACGGACCTCCCAGGTACTCCAGGCCCCGTACATGAGGGAAACCGAGACATAGAGGGGCAGTGGCAAGGCCGGGAGCAGGATGACCAACCCCAGAGGACTTGAGGATGAATATCCAGTTGCAGGTCACAGAGCAGGCACTTAGCACCAAGGGCTGTTCTAAAAACATAGAAATAAGGCCAGGCACAGTGGCTCCCGTCTGTGTACTTGGGAGGCAGAGACAGGAGGATCACTTGAGCCCAACAGTTCAAGATCCTTCTAGGCAACATAGGGAGACCCGTCTACAAAAAAATTTAAAAATTAACTGGGTGTCGTGGTGCATGCTTCTACTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCCTGGGAGTTTGAGGCTGCATTGAATTGTGATCATGCTGCTGCACTCCAGCCTGGGTGACAGGGCACGACCTTGTCTCTAAAAACAGAAATAAGCGTACGAGGCTGGGTGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACTTGGCCAACATGTTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAATCCCAGCTACTCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGAGATTGCAATGAGCCAAGATCGTGCTACTACACTCCAGCCTGGGTGACAAGAGTAAAACTCCATCTAAAAAAATAATAATAATTAAAATAAAAAAATAAGTGTACAAGCTTTTACAAAACCAAAAAAGGACAGATGAGAAGGGCCCAACCAGCCTCACAGGAGTGGCTGAGCCAGGACCTGGGGAGTGTCCAGGATGAGCCTATCTCCGGCTGGCCCTCAGTTTTCCCATCTGCAGAATGGAACCAGGCACCTTGATTACTTATGTCCCCTTCAACCAAGATGTTATTCAAAATGAAATCATGCCAGGTGCAGGGCGCGCACCTCTAATCCCAGCTACTCGGAAGGCTGAGGCGGGAGGATCGCTTGAGCCCAGGAGTTCAAGACTAGCCTGGGTAACATAGCAAGACTTTGTCTCTTAAAAAAATAAAATAAAAATTAAGTGAAAGGTTTTGTCACTCAAGGACTGTGCTAATAAGCTTCTTTTGCAAGTTAAGAGGGAATAGATTCAGGTGGAACAGCTGGGAATTCCTCAGTCGTCCCTAGTACCCTAAGGGTTTTCTGTCCTCTTTTTTTTGTTTTGTTTTTTTTTTTTTGAGACAGTGTCTTGCTCTGTCATCCAGGCTAGAGTGCTGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCACGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGGCTGCCTCGGCCTCCCAAAGTTAAAAAAAAAAAAAGAAAAAAAAAATTTAATAAAATTAAAAGGTAGGCCGGGCACAGTGACTCATGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATCTGAGGTCAGGAGTTTGAGAC
TCACTACCGCCCGGAGCTGCCCGCACCGCGTACAGGTGAAGGGGAGCCTCAATGGGGTTGGGAGGAGGCTGGGGGCCCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCACCCTGCCCTGGCCATCTGTCCGCAGAGGCCGCGGGGCCCGTGGGGCCGGCGCTGGAGCCACCGACGCTGCCGCTGCACCGCGCGCTCACGCTGCGCTTCCTGCTCCAGCACCTGGGCCGCGTGGCCAGCCGCGCCCCGGCCCTGGGTCCCGCGGTCCGGGCCCTGGGCGCCACCTTTGGGCCGCTGCTGCTGCGCGCGCCGCCGCCGCCGTCCTCGCCGCCGCCAGGGGGCGCTCCCGACGGGTGAGGGGCGGGGCGGAGCCGGAGCGAGCAGGGGTGGAGTTTGGGGTGGGGCGGGCGGGGCATGGCCAGAGTGAGCGGCGTCTAGACCCTAAGAAGGGAGGGGATGGGGTCCAGAGTGAGAAGCTGCGTTCTTGTGATGACGGAGCGGAGACCTGGGCTCCTGAGTCGTGGGACAGAAGGTGAAGGGGCCTAGTCCCGAAGCATGTGGGTGGTGCCTGCACCTTCCCTTCTGCTCGTCGCAGCTCCGGTACTGGTCTCTCGCTCGCCTTTGTGTGAGAATCTATGGAGCACTTACTGCATACAGCTATGAGGGAGCTGGCCTCGCACATGTGCCTGTATCATCTCCTCCTCCGCCCTGCACATACTGTCTCGTATATACCCCCAGGCGTGCAAGCGCACGCACAATCCTGTGCACATGCGTGGGCGGACAGGCCCTACCCAGCCCTCACCACACTCCCCTTCCCCCTAAGGAGTGAGCCCAGCCCTGACTTCCCGGCGCTGCTGGTGGAGAAGCTGCTTCAGGAACACTTGGAAGAGCAGGAGGTTGCGCCCCCAGGTGAGTCCCCTGTATTGCTGTCATTTCTTCCCGTTGGGGGCCGTAAATACTGATCCCTGAGTGCTGCCGGCATCAGCAGGCTGGTTGCAGTGGGAGGCAGCCACAGTATACAGTCGGTGCTCAGGATGCATTTGTTTTCCTGTCCCCCAGCGCTGCCGCCTAAACCCCCCAAGGCAAAGCCGGCCTCCACAGTCCTGGCCAATGGAGGGAGCCCACCCTCCCTGCAGGATGCTGAGTGGTACTGGGGGGACATTTCAAGGTAGGTTGCTGGCAGGGGGCCAGGGACCAAGGAGGTGTCACAGGGTGAGCGGGGTCTCCAGGTGGCTCGGCAGTCCCAATGTTGGATGTTCCCACAGGGAGGAGGTGAACGAGAAACTCCGGGACACTCCCGATGGCACCTTCCTAGTCCGAGATGCTTCTAGCAAGATCCAGGGCGAGTACACGCTGACCCTCAGGTGGGGGCCTGTCCCTGCAAGGATAACCGGGGGTCACAGGTCACAGAGACCGGGAGTTCAGAGGGGATAGAACATGTGCGGTTTCAAGAATGGAGGGCCAGGCACGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGCAGAACACCTGAGGTCAGGAGTTTAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAATTAAAAAAAAAAATTAGCCAGGCATGGTGATGGATGCCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAAATCGCACCACTGCACTGCAGCCTGGACAACAGAGCAGCAAGACTCTGTCTCAAAAAAAAAGGGGACAGGGATTGAGGGTCAGGTGCGGGGTCCCACTGGGTGCCGACACCCCTCTCCTCCCCCAGGAAAGGCGGGAACAATGAGCTGATCAAGGTCTTCCACCGAGATGGGCACTATGGCTTCTCAGAGCCACTCACCTTCTGCTCCGTTGTGGACCTCATCAATCACTACCGCCACGAGTCTCTGGCCCAGTACAATGCCAAGCTGGACACACGGCTCCTCTACCCTGTGTCCAAATACCAGCAGGTCCGTGCTGGCCTGGGAGCCAGGGAGGGTAGCACCTGGCTGGCCCCAGGCCTCAGTTTCCTAGGTAGACCCGACCAGGCTATGCATCTCCCCTCATTCCGCCACGTATCTCCAGGACCAGATTGTCAAGGAGGACAGCGTGGAGGCAGTGGGCGCCCAGCTTAAGGTCTATCACCAGCAGTACCAGGACAAGAGCCGCGAGTATGACCAGCTTTATGAAGAGTACACACGGACCTCCCAGGTACTCCAGGCCCCGTACATGAGGGAAACCGAGACATAGAGGGGCAGTGGCAAGGCCGGGAGCAGGATGACCAACCCCAGAGGACTTGAGGATGAATATCCAGTTGCAGGTCACAGAGCAGGCACTTAGCACCAAGGGCTGTTCTAAAAACATAGAAATAAGGCCAGGCACAGTGGCTCCCGTCTGTGTACTTGGGAGGCAGAGACAGGAGGATCACTTGAGCCCAACAGTTCAAGATCCTTCTAGGCAACATAGGGAGACCCGTCTACAAAAAAATTTAAAAATTAACTGGGTGTCGTGGTGCATGCTTCTACTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCCTGGGAGTTTGAGGCTGCATTGAATTGTGATCATGCTGCTGCACTCCAGCCTGGGTGACAGGGCACGACCTTGTCTCTAAAAACAGAAATAAGCGTACGAGGCTGGGTGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACTTGGCCAACATGTTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAATCCCAGCTACTCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGAGATTGCAATGAGCCAAGATCGTGCTACTACACTCCAGCCTGGGTGACAAGAGTAAAACTCCATCTAAAAAAATAATAATAATTAAAATAAAAAAATAAGTGTACAAGCTTTTACAAAACCAAAAAAGGACAGATGAGAAGGGCCCAACCAGCCTCACAGGAGTGGCTGAGCCAGGACCTGGGGAGTGTCCAGGATGAGCCTATCTCCGGCTGGCCCTCAGTTTTCCCATCTGCAGAATGGAACCAGGCACCTTGATTACTTATGTCCCCTTCAACCAAGATGTTATTCAAAATGAAATCATGCCAGGTGCAGGGCGCGCACCTCTAATCCCAGCTACTCGGAAGGCTGAGGCGGGAGGATCGCTTGAGCCCAGGAGTTCAAGACTAGCCTGGGTAACATAGCAAGACTTTGTCTCTTAAAAAAATAAAATAAAAATTAAGTGAAAGGTTTTGTCACTCAAGGACTGTGCTAATAAGCTTCTTTTGCAAGTTAAGAGGGAATAGATTCAGGTGGAACAGCTGGGAATTCCTCAGTCGTCCCTAGTACCCTAAGGGTTTTCTGTCCTCTTTTTTTTGTTTTGTTTTTTTTTTTTTGAGACAGTGTCTTGCTCTGTCATCCAGGCTAGAGTGCTGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCACGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGGCTGCCTCGGCCTCCCAAAGTTAAAAAAAAAAAAAGAAAAAAAAAATTTAATAAAATTAAAAGGTAGGCCGGGCACAGTGACTCATGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATCTGAGGTCAGGAGTTTGAGAC
Task1_train_26935
A change on Chromosome 19 affects gene PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GCGTACAGGTGAAGGGGAGCCTCAATGGGGTTGGGAGGAGGCTGGGGGCCCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCACCCTGCCCTGGCCATCTGTCCGCAGAGGCCGCGGGGCCCGTGGGGCCGGCGCTGGAGCCACCGACGCTGCCGCTGCACCGCGCGCTCACGCTGCGCTTCCTGCTCCAGCACCTGGGCCGCGTGGCCAGCCGCGCCCCGGCCCTGGGTCCCGCGGTCCGGGCCCTGGGCGCCACCTTTGGGCCGCTGCTGCTGCGCGCGCCGCCGCCGCCGTCCTCGCCGCCGCCAGGGGGCGCTCCCGACGGGTGAGGGGCGGGGCGGAGCCGGAGCGAGCAGGGGTGGAGTTTGGGGTGGGGCGGGCGGGGCATGGCCAGAGTGAGCGGCGTCTAGACCCTAAGAAGGGAGGGGATGGGGTCCAGAGTGAGAAGCTGCGTTCTTGTGATGACGGAGCGGAGACCTGGGCTCCTGAGTCGTGGGACAGAAGGTGAAGGGGCCTAGTCCCGAAGCATGTGGGTGGTGCCTGCACCTTCCCTTCTGCTCGTCGCAGCTCCGGTACTGGTCTCTCGCTCGCCTTTGTGTGAGAATCTATGGAGCACTTACTGCATACAGCTATGAGGGAGCTGGCCTCGCACATGTGCCTGTATCATCTCCTCCTCCGCCCTGCACATACTGTCTCGTATATACCCCCAGGCGTGCAAGCGCACGCACAATCCTGTGCACATGCGTGGGCGGACAGGCCCTACCCAGCCCTCACCACACTCCCCTTCCCCCTAAGGAGTGAGCCCAGCCCTGACTTCCCGGCGCTGCTGGTGGAGAAGCTGCTTCAGGAACACTTGGAAGAGCAGGAGGTTGCGCCCCCAGGTGAGTCCCCTGTATTGCTGTCATTTCTTCCCGTTGGGGGCCGTAAATACTGATCCCTGAGTGCTGCCGGCATCAGCAGGCTGGTTGCAGTGGGAGGCAGCCACAGTATACAGTCGGTGCTCAGGATGCATTTGTTTTCCTGTCCCCCAGCGCTGCCGCCTAAACCCCCCAAGGCAAAGCCGGCCTCCACAGTCCTGGCCAATGGAGGGAGCCCACCCTCCCTGCAGGATGCTGAGTGGTACTGGGGGGACATTTCAAGGTAGGTTGCTGGCAGGGGGCCAGGGACCAAGGAGGTGTCACAGGGTGAGCGGGGTCTCCAGGTGGCTCGGCAGTCCCAATGTTGGATGTTCCCACAGGGAGGAGGTGAACGAGAAACTCCGGGACACTCCCGATGGCACCTTCCTAGTCCGAGATGCTTCTAGCAAGATCCAGGGCGAGTACACGCTGACCCTCAGGTGGGGGCCTGTCCCTGCAAGGATAACCGGGGGTCACAGGTCACAGAGACCGGGAGTTCAGAGGGGATAGAACATGTGCGGTTTCAAGAATGGAGGGCCAGGCACGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGCAGAACACCTGAGGTCAGGAGTTTAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAATTAAAAAAAAAAATTAGCCAGGCATGGTGATGGATGCCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAAATCGCACCACTGCACTGCAGCCTGGACAACAGAGCAGCAAGACTCTGTCTCAAAAAAAAAGGGGACAGGGATTGAGGGTCAGGTGCGGGGTCCCACTGGGTGCCGACACCCCTCTCCTCCCCCAGGAAAGGCGGGAACAATAAGCTGATCAAGGTCTTCCACCGAGATGGGCACTATGGCTTCTCAGAGCCACTCACCTTCTGCTCCGTTGTGGACCTCATCAATCACTACCGCCACGAGTCTCTGGCCCAGTACAATGCCAAGCTGGACACACGGCTCCTCTACCCTGTGTCCAAATACCAGCAGGTCCGTGCTGGCCTGGGAGCCAGGGAGGGTAGCACCTGGCTGGCCCCAGGCCTCAGTTTCCTAGGTAGACCCGACCAGGCTATGCATCTCCCCTCATTCCGCCACGTATCTCCAGGACCAGATTGTCAAGGAGGACAGCGTGGAGGCAGTGGGCGCCCAGCTTAAGGTCTATCACCAGCAGTACCAGGACAAGAGCCGCGAGTATGACCAGCTTTATGAAGAGTACACACGGACCTCCCAGGTACTCCAGGCCCCGTACATGAGGGAAACCGAGACATAGAGGGGCAGTGGCAAGGCCGGGAGCAGGATGACCAACCCCAGAGGACTTGAGGATGAATATCCAGTTGCAGGTCACAGAGCAGGCACTTAGCACCAAGGGCTGTTCTAAAAACATAGAAATAAGGCCAGGCACAGTGGCTCCCGTCTGTGTACTTGGGAGGCAGAGACAGGAGGATCACTTGAGCCCAACAGTTCAAGATCCTTCTAGGCAACATAGGGAGACCCGTCTACAAAAAAATTTAAAAATTAACTGGGTGTCGTGGTGCATGCTTCTACTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCCTGGGAGTTTGAGGCTGCATTGAATTGTGATCATGCTGCTGCACTCCAGCCTGGGTGACAGGGCACGACCTTGTCTCTAAAAACAGAAATAAGCGTACGAGGCTGGGTGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACTTGGCCAACATGTTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAATCCCAGCTACTCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGAGATTGCAATGAGCCAAGATCGTGCTACTACACTCCAGCCTGGGTGACAAGAGTAAAACTCCATCTAAAAAAATAATAATAATTAAAATAAAAAAATAAGTGTACAAGCTTTTACAAAACCAAAAAAGGACAGATGAGAAGGGCCCAACCAGCCTCACAGGAGTGGCTGAGCCAGGACCTGGGGAGTGTCCAGGATGAGCCTATCTCCGGCTGGCCCTCAGTTTTCCCATCTGCAGAATGGAACCAGGCACCTTGATTACTTATGTCCCCTTCAACCAAGATGTTATTCAAAATGAAATCATGCCAGGTGCAGGGCGCGCACCTCTAATCCCAGCTACTCGGAAGGCTGAGGCGGGAGGATCGCTTGAGCCCAGGAGTTCAAGACTAGCCTGGGTAACATAGCAAGACTTTGTCTCTTAAAAAAATAAAATAAAAATTAAGTGAAAGGTTTTGTCACTCAAGGACTGTGCTAATAAGCTTCTTTTGCAAGTTAAGAGGGAATAGATTCAGGTGGAACAGCTGGGAATTCCTCAGTCGTCCCTAGTACCCTAAGGGTTTTCTGTCCTCTTTTTTTTGTTTTGTTTTTTTTTTTTTGAGACAGTGTCTTGCTCTGTCATCCAGGCTAGAGTGCTGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCACGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGGCTGCCTCGGCCTCCCAAAGTTAAAAAAAAAAAAAGAAAAAAAAAATTTAATAAAATTAAAAGGTAGGCCGGGCACAGTGACTCATGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCA
GCGTACAGGTGAAGGGGAGCCTCAATGGGGTTGGGAGGAGGCTGGGGGCCCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCACCCTGCCCTGGCCATCTGTCCGCAGAGGCCGCGGGGCCCGTGGGGCCGGCGCTGGAGCCACCGACGCTGCCGCTGCACCGCGCGCTCACGCTGCGCTTCCTGCTCCAGCACCTGGGCCGCGTGGCCAGCCGCGCCCCGGCCCTGGGTCCCGCGGTCCGGGCCCTGGGCGCCACCTTTGGGCCGCTGCTGCTGCGCGCGCCGCCGCCGCCGTCCTCGCCGCCGCCAGGGGGCGCTCCCGACGGGTGAGGGGCGGGGCGGAGCCGGAGCGAGCAGGGGTGGAGTTTGGGGTGGGGCGGGCGGGGCATGGCCAGAGTGAGCGGCGTCTAGACCCTAAGAAGGGAGGGGATGGGGTCCAGAGTGAGAAGCTGCGTTCTTGTGATGACGGAGCGGAGACCTGGGCTCCTGAGTCGTGGGACAGAAGGTGAAGGGGCCTAGTCCCGAAGCATGTGGGTGGTGCCTGCACCTTCCCTTCTGCTCGTCGCAGCTCCGGTACTGGTCTCTCGCTCGCCTTTGTGTGAGAATCTATGGAGCACTTACTGCATACAGCTATGAGGGAGCTGGCCTCGCACATGTGCCTGTATCATCTCCTCCTCCGCCCTGCACATACTGTCTCGTATATACCCCCAGGCGTGCAAGCGCACGCACAATCCTGTGCACATGCGTGGGCGGACAGGCCCTACCCAGCCCTCACCACACTCCCCTTCCCCCTAAGGAGTGAGCCCAGCCCTGACTTCCCGGCGCTGCTGGTGGAGAAGCTGCTTCAGGAACACTTGGAAGAGCAGGAGGTTGCGCCCCCAGGTGAGTCCCCTGTATTGCTGTCATTTCTTCCCGTTGGGGGCCGTAAATACTGATCCCTGAGTGCTGCCGGCATCAGCAGGCTGGTTGCAGTGGGAGGCAGCCACAGTATACAGTCGGTGCTCAGGATGCATTTGTTTTCCTGTCCCCCAGCGCTGCCGCCTAAACCCCCCAAGGCAAAGCCGGCCTCCACAGTCCTGGCCAATGGAGGGAGCCCACCCTCCCTGCAGGATGCTGAGTGGTACTGGGGGGACATTTCAAGGTAGGTTGCTGGCAGGGGGCCAGGGACCAAGGAGGTGTCACAGGGTGAGCGGGGTCTCCAGGTGGCTCGGCAGTCCCAATGTTGGATGTTCCCACAGGGAGGAGGTGAACGAGAAACTCCGGGACACTCCCGATGGCACCTTCCTAGTCCGAGATGCTTCTAGCAAGATCCAGGGCGAGTACACGCTGACCCTCAGGTGGGGGCCTGTCCCTGCAAGGATAACCGGGGGTCACAGGTCACAGAGACCGGGAGTTCAGAGGGGATAGAACATGTGCGGTTTCAAGAATGGAGGGCCAGGCACGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGCAGAACACCTGAGGTCAGGAGTTTAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAATTAAAAAAAAAAATTAGCCAGGCATGGTGATGGATGCCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAAATCGCACCACTGCACTGCAGCCTGGACAACAGAGCAGCAAGACTCTGTCTCAAAAAAAAAGGGGACAGGGATTGAGGGTCAGGTGCGGGGTCCCACTGGGTGCCGACACCCCTCTCCTCCCCCAGGAAAGGCGGGAACAATAAGCTGATCAAGGTCTTCCACCGAGATAGGCACTATGGCTTCTCAGAGCCACTCACCTTCTGCTCCGTTGTGGACCTCATCAATCACTACCGCCACGAGTCTCTGGCCCAGTACAATGCCAAGCTGGACACACGGCTCCTCTACCCTGTGTCCAAATACCAGCAGGTCCGTGCTGGCCTGGGAGCCAGGGAGGGTAGCACCTGGCTGGCCCCAGGCCTCAGTTTCCTAGGTAGACCCGACCAGGCTATGCATCTCCCCTCATTCCGCCACGTATCTCCAGGACCAGATTGTCAAGGAGGACAGCGTGGAGGCAGTGGGCGCCCAGCTTAAGGTCTATCACCAGCAGTACCAGGACAAGAGCCGCGAGTATGACCAGCTTTATGAAGAGTACACACGGACCTCCCAGGTACTCCAGGCCCCGTACATGAGGGAAACCGAGACATAGAGGGGCAGTGGCAAGGCCGGGAGCAGGATGACCAACCCCAGAGGACTTGAGGATGAATATCCAGTTGCAGGTCACAGAGCAGGCACTTAGCACCAAGGGCTGTTCTAAAAACATAGAAATAAGGCCAGGCACAGTGGCTCCCGTCTGTGTACTTGGGAGGCAGAGACAGGAGGATCACTTGAGCCCAACAGTTCAAGATCCTTCTAGGCAACATAGGGAGACCCGTCTACAAAAAAATTTAAAAATTAACTGGGTGTCGTGGTGCATGCTTCTACTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCCTGGGAGTTTGAGGCTGCATTGAATTGTGATCATGCTGCTGCACTCCAGCCTGGGTGACAGGGCACGACCTTGTCTCTAAAAACAGAAATAAGCGTACGAGGCTGGGTGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACTTGGCCAACATGTTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAATCCCAGCTACTCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGAGATTGCAATGAGCCAAGATCGTGCTACTACACTCCAGCCTGGGTGACAAGAGTAAAACTCCATCTAAAAAAATAATAATAATTAAAATAAAAAAATAAGTGTACAAGCTTTTACAAAACCAAAAAAGGACAGATGAGAAGGGCCCAACCAGCCTCACAGGAGTGGCTGAGCCAGGACCTGGGGAGTGTCCAGGATGAGCCTATCTCCGGCTGGCCCTCAGTTTTCCCATCTGCAGAATGGAACCAGGCACCTTGATTACTTATGTCCCCTTCAACCAAGATGTTATTCAAAATGAAATCATGCCAGGTGCAGGGCGCGCACCTCTAATCCCAGCTACTCGGAAGGCTGAGGCGGGAGGATCGCTTGAGCCCAGGAGTTCAAGACTAGCCTGGGTAACATAGCAAGACTTTGTCTCTTAAAAAAATAAAATAAAAATTAAGTGAAAGGTTTTGTCACTCAAGGACTGTGCTAATAAGCTTCTTTTGCAAGTTAAGAGGGAATAGATTCAGGTGGAACAGCTGGGAATTCCTCAGTCGTCCCTAGTACCCTAAGGGTTTTCTGTCCTCTTTTTTTTGTTTTGTTTTTTTTTTTTTGAGACAGTGTCTTGCTCTGTCATCCAGGCTAGAGTGCTGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCACGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGGCTGCCTCGGCCTCCCAAAGTTAAAAAAAAAAAAAGAAAAAAAAAATTTAATAAAATTAAAAGGTAGGCCGGGCACAGTGACTCATGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCA
Task1_train_26936
A mutation on Chromosome 19 affecting PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
CCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCACCCTGCCCTGGCCATCTGTCCGCAGAGGCCGCGGGGCCCGTGGGGCCGGCGCTGGAGCCACCGACGCTGCCGCTGCACCGCGCGCTCACGCTGCGCTTCCTGCTCCAGCACCTGGGCCGCGTGGCCAGCCGCGCCCCGGCCCTGGGTCCCGCGGTCCGGGCCCTGGGCGCCACCTTTGGGCCGCTGCTGCTGCGCGCGCCGCCGCCGCCGTCCTCGCCGCCGCCAGGGGGCGCTCCCGACGGGTGAGGGGCGGGGCGGAGCCGGAGCGAGCAGGGGTGGAGTTTGGGGTGGGGCGGGCGGGGCATGGCCAGAGTGAGCGGCGTCTAGACCCTAAGAAGGGAGGGGATGGGGTCCAGAGTGAGAAGCTGCGTTCTTGTGATGACGGAGCGGAGACCTGGGCTCCTGAGTCGTGGGACAGAAGGTGAAGGGGCCTAGTCCCGAAGCATGTGGGTGGTGCCTGCACCTTCCCTTCTGCTCGTCGCAGCTCCGGTACTGGTCTCTCGCTCGCCTTTGTGTGAGAATCTATGGAGCACTTACTGCATACAGCTATGAGGGAGCTGGCCTCGCACATGTGCCTGTATCATCTCCTCCTCCGCCCTGCACATACTGTCTCGTATATACCCCCAGGCGTGCAAGCGCACGCACAATCCTGTGCACATGCGTGGGCGGACAGGCCCTACCCAGCCCTCACCACACTCCCCTTCCCCCTAAGGAGTGAGCCCAGCCCTGACTTCCCGGCGCTGCTGGTGGAGAAGCTGCTTCAGGAACACTTGGAAGAGCAGGAGGTTGCGCCCCCAGGTGAGTCCCCTGTATTGCTGTCATTTCTTCCCGTTGGGGGCCGTAAATACTGATCCCTGAGTGCTGCCGGCATCAGCAGGCTGGTTGCAGTGGGAGGCAGCCACAGTATACAGTCGGTGCTCAGGATGCATTTGTTTTCCTGTCCCCCAGCGCTGCCGCCTAAACCCCCCAAGGCAAAGCCGGCCTCCACAGTCCTGGCCAATGGAGGGAGCCCACCCTCCCTGCAGGATGCTGAGTGGTACTGGGGGGACATTTCAAGGTAGGTTGCTGGCAGGGGGCCAGGGACCAAGGAGGTGTCACAGGGTGAGCGGGGTCTCCAGGTGGCTCGGCAGTCCCAATGTTGGATGTTCCCACAGGGAGGAGGTGAACGAGAAACTCCGGGACACTCCCGATGGCACCTTCCTAGTCCGAGATGCTTCTAGCAAGATCCAGGGCGAGTACACGCTGACCCTCAGGTGGGGGCCTGTCCCTGCAAGGATAACCGGGGGTCACAGGTCACAGAGACCGGGAGTTCAGAGGGGATAGAACATGTGCGGTTTCAAGAATGGAGGGCCAGGCACGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGCAGAACACCTGAGGTCAGGAGTTTAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAATTAAAAAAAAAAATTAGCCAGGCATGGTGATGGATGCCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAAATCGCACCACTGCACTGCAGCCTGGACAACAGAGCAGCAAGACTCTGTCTCAAAAAAAAAGGGGACAGGGATTGAGGGTCAGGTGCGGGGTCCCACTGGGTGCCGACACCCCTCTCCTCCCCCAGGAAAGGCGGGAACAATAAGCTGATCAAGGTCTTCCACCGAGATGGGCACTATGGCTTCTCAGAGCCACTCACCTTCTGCTCCGTTGTGGACCTCATCAATCACTACCGCCACGAGTCTCTGGCCCAGTACAATGCCAAGCTGGACACACGGCTCCTCTACCCTGTGTCCAAATACCAGCAGGTCCGTGCTGGCCTGGGAGCCAGGGAGGGTAGCACCTGGCTGGCCCCAGGCCTCAGTTTCCTAGGTAGACCCGACCAGGCTATGCATCTCCCCTCATTCCGCCACGTATCTCCAGGACCAGATTGTCAAGGAGGACAGCGTGGAGGCAGTGGGCGCCCAGCTTAAGGTCTATCACCAGCAGTACCAGGACAAGAGCCGCGAGTATGACCAGCTTTATGAAGAGTACACACGGACCTCCCAGGTACTCCAGGCCCCGTACATGAGGGAAACCGAGACATAGAGGGGCAGTGGCAAGGCCGGGAGCAGGATGACCAACCCCAGAGGACTTGAGGATGAATATCCAGTTGCAGGTCACAGAGCAGGCACTTAGCACCAAGGGCTGTTCTAAAAACATAGAAATAAGGCCAGGCACAGTGGCTCCCGTCTGTGTACTTGGGAGGCAGAGACAGGAGGATCACTTGAGCCCAACAGTTCAAGATCCTTCTAGGCAACATAGGGAGACCCGTCTACAAAAAAATTTAAAAATTAACTGGGTGTCGTGGTGCATGCTTCTACTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCCTGGGAGTTTGAGGCTGCATTGAATTGTGATCATGCTGCTGCACTCCAGCCTGGGTGACAGGGCACGACCTTGTCTCTAAAAACAGAAATAAGCGTACGAGGCTGGGTGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACTTGGCCAACATGTTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAATCCCAGCTACTCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGAGATTGCAATGAGCCAAGATCGTGCTACTACACTCCAGCCTGGGTGACAAGAGTAAAACTCCATCTAAAAAAATAATAATAATTAAAATAAAAAAATAAGTGTACAAGCTTTTACAAAACCAAAAAAGGACAGATGAGAAGGGCCCAACCAGCCTCACAGGAGTGGCTGAGCCAGGACCTGGGGAGTGTCCAGGATGAGCCTATCTCCGGCTGGCCCTCAGTTTTCCCATCTGCAGAATGGAACCAGGCACCTTGATTACTTATGTCCCCTTCAACCAAGATGTTATTCAAAATGAAATCATGCCAGGTGCAGGGCGCGCACCTCTAATCCCAGCTACTCGGAAGGCTGAGGCGGGAGGATCGCTTGAGCCCAGGAGTTCAAGACTAGCCTGGGTAACATAGCAAGACTTTGTCTCTTAAAAAAATAAAATAAAAATTAAGTGAAAGGTTTTGTCACTCAAGGACTGTGCTAATAAGCTTCTTTTGCAAGTTAAGAGGGAATAGATTCAGGTGGAACAGCTGGGAATTCCTCAGTCGTCCCTAGTACCCTAAGGGTTTTCTGTCCTCTTTTTTTTGTTTTGTTTTTTTTTTTTTGAGACAGTGTCTTGCTCTGTCATCCAGGCTAGAGTGCTGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCACGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGGCTGCCTCGGCCTCCCAAAGTTAAAAAAAAAAAAAGAAAAAAAAAATTTAATAAAATTAAAAGGTAGGCCGGGCACAGTGACTCATGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAAGATAAAAAAATTAGCCGAGCCAGGCACAATGGCTCA
CCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCACCCTGCCCTGGCCATCTGTCCGCAGAGGCCGCGGGGCCCGTGGGGCCGGCGCTGGAGCCACCGACGCTGCCGCTGCACCGCGCGCTCACGCTGCGCTTCCTGCTCCAGCACCTGGGCCGCGTGGCCAGCCGCGCCCCGGCCCTGGGTCCCGCGGTCCGGGCCCTGGGCGCCACCTTTGGGCCGCTGCTGCTGCGCGCGCCGCCGCCGCCGTCCTCGCCGCCGCCAGGGGGCGCTCCCGACGGGTGAGGGGCGGGGCGGAGCCGGAGCGAGCAGGGGTGGAGTTTGGGGTGGGGCGGGCGGGGCATGGCCAGAGTGAGCGGCGTCTAGACCCTAAGAAGGGAGGGGATGGGGTCCAGAGTGAGAAGCTGCGTTCTTGTGATGACGGAGCGGAGACCTGGGCTCCTGAGTCGTGGGACAGAAGGTGAAGGGGCCTAGTCCCGAAGCATGTGGGTGGTGCCTGCACCTTCCCTTCTGCTCGTCGCAGCTCCGGTACTGGTCTCTCGCTCGCCTTTGTGTGAGAATCTATGGAGCACTTACTGCATACAGCTATGAGGGAGCTGGCCTCGCACATGTGCCTGTATCATCTCCTCCTCCGCCCTGCACATACTGTCTCGTATATACCCCCAGGCGTGCAAGCGCACGCACAATCCTGTGCACATGCGTGGGCGGACAGGCCCTACCCAGCCCTCACCACACTCCCCTTCCCCCTAAGGAGTGAGCCCAGCCCTGACTTCCCGGCGCTGCTGGTGGAGAAGCTGCTTCAGGAACACTTGGAAGAGCAGGAGGTTGCGCCCCCAGGTGAGTCCCCTGTATTGCTGTCATTTCTTCCCGTTGGGGGCCGTAAATACTGATCCCTGAGTGCTGCCGGCATCAGCAGGCTGGTTGCAGTGGGAGGCAGCCACAGTATACAGTCGGTGCTCAGGATGCATTTGTTTTCCTGTCCCCCAGCGCTGCCGCCTAAACCCCCCAAGGCAAAGCCGGCCTCCACAGTCCTGGCCAATGGAGGGAGCCCACCCTCCCTGCAGGATGCTGAGTGGTACTGGGGGGACATTTCAAGGTAGGTTGCTGGCAGGGGGCCAGGGACCAAGGAGGTGTCACAGGGTGAGCGGGGTCTCCAGGTGGCTCGGCAGTCCCAATGTTGGATGTTCCCACAGGGAGGAGGTGAACGAGAAACTCCGGGACACTCCCGATGGCACCTTCCTAGTCCGAGATGCTTCTAGCAAGATCCAGGGCGAGTACACGCTGACCCTCAGGTGGGGGCCTGTCCCTGCAAGGATAACCGGGGGTCACAGGTCACAGAGACCGGGAGTTCAGAGGGGATAGAACATGTGCGGTTTCAAGAATGGAGGGCCAGGCACGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGCAGAACACCTGAGGTCAGGAGTTTAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAATTAAAAAAAAAAATTAGCCAGGCATGGTGATGGATGCCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAAATCGCACCACTGCACTGCAGCCTGGACAACAGAGCAGCAAGACTCTGTCTCAAAAAAAAAGGGGACAGGGATTGAGGGTCAGGTGCGGGGTCCCACTGGGTGCCGACACCCCTCTCCTCCCCCAGGAAAGGCGGGAACAATAAGCTGATCAAGGTCTTCCACCGAGATGGGCACTATGGCTTCTCAGAGCCACTCACCTTCTGCTCCGTTGTGGACCCCATCAATCACTACCGCCACGAGTCTCTGGCCCAGTACAATGCCAAGCTGGACACACGGCTCCTCTACCCTGTGTCCAAATACCAGCAGGTCCGTGCTGGCCTGGGAGCCAGGGAGGGTAGCACCTGGCTGGCCCCAGGCCTCAGTTTCCTAGGTAGACCCGACCAGGCTATGCATCTCCCCTCATTCCGCCACGTATCTCCAGGACCAGATTGTCAAGGAGGACAGCGTGGAGGCAGTGGGCGCCCAGCTTAAGGTCTATCACCAGCAGTACCAGGACAAGAGCCGCGAGTATGACCAGCTTTATGAAGAGTACACACGGACCTCCCAGGTACTCCAGGCCCCGTACATGAGGGAAACCGAGACATAGAGGGGCAGTGGCAAGGCCGGGAGCAGGATGACCAACCCCAGAGGACTTGAGGATGAATATCCAGTTGCAGGTCACAGAGCAGGCACTTAGCACCAAGGGCTGTTCTAAAAACATAGAAATAAGGCCAGGCACAGTGGCTCCCGTCTGTGTACTTGGGAGGCAGAGACAGGAGGATCACTTGAGCCCAACAGTTCAAGATCCTTCTAGGCAACATAGGGAGACCCGTCTACAAAAAAATTTAAAAATTAACTGGGTGTCGTGGTGCATGCTTCTACTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCCTGGGAGTTTGAGGCTGCATTGAATTGTGATCATGCTGCTGCACTCCAGCCTGGGTGACAGGGCACGACCTTGTCTCTAAAAACAGAAATAAGCGTACGAGGCTGGGTGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAACTTGGCCAACATGTTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGACGCCTGTAATCCCAGCTACTCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGAGATTGCAATGAGCCAAGATCGTGCTACTACACTCCAGCCTGGGTGACAAGAGTAAAACTCCATCTAAAAAAATAATAATAATTAAAATAAAAAAATAAGTGTACAAGCTTTTACAAAACCAAAAAAGGACAGATGAGAAGGGCCCAACCAGCCTCACAGGAGTGGCTGAGCCAGGACCTGGGGAGTGTCCAGGATGAGCCTATCTCCGGCTGGCCCTCAGTTTTCCCATCTGCAGAATGGAACCAGGCACCTTGATTACTTATGTCCCCTTCAACCAAGATGTTATTCAAAATGAAATCATGCCAGGTGCAGGGCGCGCACCTCTAATCCCAGCTACTCGGAAGGCTGAGGCGGGAGGATCGCTTGAGCCCAGGAGTTCAAGACTAGCCTGGGTAACATAGCAAGACTTTGTCTCTTAAAAAAATAAAATAAAAATTAAGTGAAAGGTTTTGTCACTCAAGGACTGTGCTAATAAGCTTCTTTTGCAAGTTAAGAGGGAATAGATTCAGGTGGAACAGCTGGGAATTCCTCAGTCGTCCCTAGTACCCTAAGGGTTTTCTGTCCTCTTTTTTTTGTTTTGTTTTTTTTTTTTTGAGACAGTGTCTTGCTCTGTCATCCAGGCTAGAGTGCTGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCACGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGGCTGCCTCGGCCTCCCAAAGTTAAAAAAAAAAAAAGAAAAAAAAAATTTAATAAAATTAAAAGGTAGGCCGGGCACAGTGACTCATGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAAGATAAAAAAATTAGCCGAGCCAGGCACAATGGCTCA
Task1_train_26937
An alteration has been detected in PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2) on Chromosome 19. Is it pathogenic, and if so, what disease is involved?
Pathogenic; not provided
ATCCCTGTCTCTACTAAAAATACAAAAAATTAGGCGTCATGGCATGCACCTGTAATCGCAGCTACTCAAGAGGCTGAGGCAGGAGAATAGCTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCATCCTGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATGGTGGCTCACACCTGTAATACCAGCTACTTGGAAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCTCCAGCCTGGGCGACAAGAGCAAGACTCCATCTCAAACAAAAAAAATTTTGAGGTGCTGTCTCACCATGTTGCCCAGGCTGGCCTCAGACTCCTCAGGGTTCAAGAGATCCTCCCACTTTAGCCTCCCTACTAGCTGGGATTACAGGCATTCGCCACCACCCCTGGCCTCTGTCCCCTTTTTACTGATGTGTTAGCTGAGGCTCTAAATGGACAAGACAGTTGTCCAGGATCAGTTAGGAGCACTGTAACCTCAGAATTGACTTTGGCCCTGAGCCTCAGTTTCTCTGTTAATAGTTGTTACTTTGTTAGGGGTTGTTGGAAGGGTCCATGGGACAAAGTAAGGAAAGTCGTAGTGCGGCATCTCCCCCAAGAAGCCCTGTGAGCTGTAGCAACTAGATCTGTCATTCATTCTTAGCAGTGTTAACAGGTCCAGGTGTTTGTGGATACCTATAGGAGGATGTAAAGAAGAAGAGGGTTTGGGGGGTGGGGTTTTGAAGGCTGAATAGGAGTTCATTTGGTGCAGCAGGCGTTAGAAGAATGACACTCTGATAGAGGGACCAGCTTGAGCAGTCTCCGTATCAGAGTTGAGATGTGCCTTTACCCCTCACGAGGGCCTTTTGGGGAGTCCCAGGAGGTGCTGAGCTGCGCCCCCTCCTCCAGGAGCTGCAGATGAAGCGTACTGCAATTGAGGCCTTCAATGAGACTATCAAGATCTTTGAAGAGCAGGGCCAGACTCAAGAGAAATGCAGCAAGGAATACCTGGAGCGCTTCCGGCGTGAGGGCAACGAGAAAGAGATGCAAAGGTGAGTCTGGCGCCTCTGCCCTGCCCCACCCCACCCTGATCTGGTGCAGTACAAGCCAGGGAGGGAAGGAAGCAGAAGGAGGCCAGCCACTTGGAGGCAAAGAGTAGTCTGTTGAAATGGACTTTGGGCCTGGTGCGATGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGTGGATCTCCTGAGGCCAGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCTAGGCATGATGGTGCGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGTTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCTTGGGTGACAGAGAAAGACTGTCTCAAAAAAAAAAAAAAAAAAGAAATGGGCTTTGAAGGATGAATAGGAGTTTGCTAGAAAGAGAAATCAGAGGAAACAGCATATGCACAGGCTCAGAGGCTGGAAGCACATAGTCTGGTGCAAAGTAGGTCCTTGAGAAAACCCTGGAGGCCGGGTGCAGTGGCTCATTCCTGCAACCCCAACACTGTGGGAGGCTGAGGCAGGAGGATTGCTTGATCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAATCTACCTCTACAAAAAATATTAAAATGTTAGCCAGACATGGTGGTGCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGGGTCACCTGAGCCCAGGAGTTTGAGGGTGCAGTGAGCCGAGATAAAACCCTGAGGTCTCTGCGCCACCCCACCCCTCCCACAGGATCCTGCTGAACTCCGAGCGGCTCAAGTCCCGCATTGCCGAGATCCATGAGAGCCGCACGAAGCTGGAGCAGCAGCTGCGGGCCCAGGCCTCGGACAACAGAGAGATCGACAAGCGCATGAACAGCCTCAAGCCGGACCTCATGCAGCTGCGCAAGATCCGAGACCAGTACCTCGTGTAAGTGGCGGCTCCATACTTCCCTGCGGCTCCCTGGCGACTGCTGCGGCACATGGAGATCTCTCTAGGAGTCTCAGTCTCTCTCTCTCCACCAAGTGGCCCTTCCTGGGCCCCGAGACCCCTTAAACTCGGTTCCTCCCGGGCCCCTTGAAAGTTTTCCCATAGGTCAGCCTCAGCTTAGTCAGAGGTGTGTGCAATGGGAGTGTCACTCCTATCCCATTCCATTTTGTGGAAAGTTGGAAGCCTTCCACAAAAATTCCTGCTGGGCTGGGCGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATACAAAACCCGGCCAGGCATGGTGGTGGGCGCCTGTAATCCCAGTTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACGGGGAGGTGGAGTTTGCAGTGAGCAGAGATTATGCCAATGCAGTTCAGCCTGGGCAACAGAGCAACACTCTGCCTCAGAAAAGAAAAGAAAAAAAAAATCGCCTGCTGTGCAACCTACCATGCTGGGTGGCTGCGGCAGCCCTGTCCTGGGTTCAAATCAGTTCAAATCCTGCCCCCACCCACCAACCTCCTGAAGACCTCAGCCAGAGCCTCCACCTCCCTCTTGGGCCTCAGGGAGGGCACTGTCGCGTGCCAGGTGCTGTGCTAAGCACCGTGCTCGTTATGAGTTCATTTGGTCCTTTTCAAGCCCTTTGTAAAGTTTGCCCTTTACAGCTGGGGAGACTGAGGCACAGAACCGACAGCTGCCCTGTGCAAAGGCCAGCAGTGCTGGAGTGAGCCTCTGGTGATGATGAGGGGCCTGGGCTGGCATCTTCTTGGGGGACTCCATAGGCGTTAACAGAAACAAAAAAATGAGGGGTGTGGGTCAGGGTTCCCCAGCAGAGCTGGGCGAGCCACCCTGGGTTCAGGCTGCCCTGAGCCAGGTCAGCTCTGCCCTCTTGTGGCAACCGGAGATATTGTACCCAGAACCCTCTCTCCTCAGCCAGACCCTGCCTCCCACCGGACAGGCCCACTGTGGGCTCAGCACCCACACAACTGCACAAGCCCACCTTTCCTGTTCCTTCTCAGGTGGCTCACCCAGAAAGGCGCCCGGCAGAAGAAAATCAACGAGTGGCTGGGGATTAAAAATGAGACTGAGGAGTGAGTGACCGTCTGGAGGGAGGCAGGGAGGGCTTCCCAGAGGAGGGGGCCATTTGGGGTGGGTTTCGAAGAATGAGTAGGAGTTCACCAGGGAGGAAAAGTTGTCCAGGCAGCTGGGGAGCCTCGGAGGCTGGCAGGTGAGTGACCAGGGCCCTCCCCGCCACCGCCCCCCACCCCAGCCAGTACGCACTCATGGAGGACGAGGACGATCTCCCGCACCACGAGGAACGCACTTGGTACGTGGGCAAGATCAACCGCACGCAGGCAGAGGAGATGCTGAGTGGCAAGCGGGATGGCACCTTCCTCATCCGCGAGAGCAGCCAGCGGGGCTGCTACGCCTGCTCCGTGGTGTGAGTGGACCGCAGCGGTGGGGATTCCCGCGTCCCTCCCAGAGCTCTCATTGAATGCCTGCCGCGTGCCAGGCCTTGGGAAGGAGTCCCTGGTGGGGTCATCCGGGACAGGGGAGCACGCGGCCCTGGAACGGGGAAAGCTTGGCGGGGAGGCCAGCCTTCCGACTCCCCCTCTCGTCTGCCCCCACAGAGTGGACGGCGACACCAAGCACTGCGTCATCTACCGCACGGCCACCGGCTTCGGCTTCGCGGAGCCCTACAACCTGTACGGGTCGCTGAAGGAGCTGGTGCTGCACTACCAGCACGCCTCGCTGGTGCAGCACAACGACGCGCTCACCGTCACCCTGGCGCACCCAGTGCGCGCCCCGGGCCCCGGCCCGCCGCCTGCCG
ATCCCTGTCTCTACTAAAAATACAAAAAATTAGGCGTCATGGCATGCACCTGTAATCGCAGCTACTCAAGAGGCTGAGGCAGGAGAATAGCTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCATCCTGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATGGTGGCTCACACCTGTAATACCAGCTACTTGGAAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCTCCAGCCTGGGCGACAAGAGCAAGACTCCATCTCAAACAAAAAAAATTTTGAGGTGCTGTCTCACCATGTTGCCCAGGCTGGCCTCAGACTCCTCAGGGTTCAAGAGATCCTCCCACTTTAGCCTCCCTACTAGCTGGGATTACAGGCATTCGCCACCACCCCTGGCCTCTGTCCCCTTTTTACTGATGTGTTAGCTGAGGCTCTAAATGGACAAGACAGTTGTCCAGGATCAGTTAGGAGCACTGTAACCTCAGAATTGACTTTGGCCCTGAGCCTCAGTTTCTCTGTTAATAGTTGTTACTTTGTTAGGGGTTGTTGGAAGGGTCCATGGGACAAAGTAAGGAAAGTCGTAGTGCGGCATCTCCCCCAAGAAGCCCTGTGAGCTGTAGCAACTAGATCTGTCATTCATTCTTAGCAGTGTTAACAGGTCCAGGTGTTTGTGGATACCTATAGGAGGATGTAAAGAAGAAGAGGGTTTGGGGGGTGGGGTTTTGAAGGCTGAATAGGAGTTCATTTGGTGCAGCAGGCGTTAGAAGAATGACACTCTGATAGAGGGACCAGCTTGAGCAGTCTCCGTATCAGAGTTGAGATGTGCCTTTACCCCTCACGAGGGCCTTTTGGGGAGTCCCAGGAGGTGCTGAGCTGCGCCCCCTCCTCCAGGAGCTGCAGATGAAGCGTACTGCAATTGAGGCCTTCAATGAGACTATCAAGATCTTTGAAGAGCAGGGCCAGACTCAAGAGAAATGCAGCAAGGAATACCTGGAGCGCTTCCGGCGTGAGGGCAACGAGAAAGAGATGCAAAGGTGAGTCTGGCGCCTCTGCCCTGCCCCACCCCACCCTGATCTGGTGCAGTACAAGCCAGGGAGGGAAGGAAGCAGAAGGAGGCCAGCCACTTGGAGGCAAAGAGTAGTCTGTTGAAATGGACTTTGGGCCTGGTGCGATGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGTGGATCTCCTGAGGCCAGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCTAGGCATGATGGTGCGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGTTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCTTGGGTGACAGAGAAAGACTGTCTCAAAAAAAAAAAAAAAAAAGAAATGGGCTTTGAAGGATGAATAGGAGTTTGCTAGAAAGAGAAATCAGAGGAAACAGCATATGCACAGGCTCAGAGGCTGGAAGCACATAGTCTGGTGCAAAGTAGGTCCTTGAGAAAACCCTGGAGGCCGGGTGCAGTGGCTCATTCCTGCAACCCCAACACTGTGGGAGGCTGAGGCAGGAGGATTGCTTGATCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAATCTACCTCTACAAAAAATATTAAAATGTTAGCCAGACATGGTGGTGCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGGGTCACCTGAGCCCAGGAGTTTGAGGGTGCAGTGAGCCGAGATAAAACCCTGAGGTCTCTGCGCCACCCCACCCCTCCCACAGGATCCTGCTGAACTCCGAGCGGCTCAAGTCCCGCATTGCCGAGATCCATGAGAGCCGCACGAAGCTGGAGCAGCAGCTGCGGGCCCAGGCCTCGGACAACAGAGAGATCCACAAGCGCATGAACAGCCTCAAGCCGGACCTCATGCAGCTGCGCAAGATCCGAGACCAGTACCTCGTGTAAGTGGCGGCTCCATACTTCCCTGCGGCTCCCTGGCGACTGCTGCGGCACATGGAGATCTCTCTAGGAGTCTCAGTCTCTCTCTCTCCACCAAGTGGCCCTTCCTGGGCCCCGAGACCCCTTAAACTCGGTTCCTCCCGGGCCCCTTGAAAGTTTTCCCATAGGTCAGCCTCAGCTTAGTCAGAGGTGTGTGCAATGGGAGTGTCACTCCTATCCCATTCCATTTTGTGGAAAGTTGGAAGCCTTCCACAAAAATTCCTGCTGGGCTGGGCGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATACAAAACCCGGCCAGGCATGGTGGTGGGCGCCTGTAATCCCAGTTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACGGGGAGGTGGAGTTTGCAGTGAGCAGAGATTATGCCAATGCAGTTCAGCCTGGGCAACAGAGCAACACTCTGCCTCAGAAAAGAAAAGAAAAAAAAAATCGCCTGCTGTGCAACCTACCATGCTGGGTGGCTGCGGCAGCCCTGTCCTGGGTTCAAATCAGTTCAAATCCTGCCCCCACCCACCAACCTCCTGAAGACCTCAGCCAGAGCCTCCACCTCCCTCTTGGGCCTCAGGGAGGGCACTGTCGCGTGCCAGGTGCTGTGCTAAGCACCGTGCTCGTTATGAGTTCATTTGGTCCTTTTCAAGCCCTTTGTAAAGTTTGCCCTTTACAGCTGGGGAGACTGAGGCACAGAACCGACAGCTGCCCTGTGCAAAGGCCAGCAGTGCTGGAGTGAGCCTCTGGTGATGATGAGGGGCCTGGGCTGGCATCTTCTTGGGGGACTCCATAGGCGTTAACAGAAACAAAAAAATGAGGGGTGTGGGTCAGGGTTCCCCAGCAGAGCTGGGCGAGCCACCCTGGGTTCAGGCTGCCCTGAGCCAGGTCAGCTCTGCCCTCTTGTGGCAACCGGAGATATTGTACCCAGAACCCTCTCTCCTCAGCCAGACCCTGCCTCCCACCGGACAGGCCCACTGTGGGCTCAGCACCCACACAACTGCACAAGCCCACCTTTCCTGTTCCTTCTCAGGTGGCTCACCCAGAAAGGCGCCCGGCAGAAGAAAATCAACGAGTGGCTGGGGATTAAAAATGAGACTGAGGAGTGAGTGACCGTCTGGAGGGAGGCAGGGAGGGCTTCCCAGAGGAGGGGGCCATTTGGGGTGGGTTTCGAAGAATGAGTAGGAGTTCACCAGGGAGGAAAAGTTGTCCAGGCAGCTGGGGAGCCTCGGAGGCTGGCAGGTGAGTGACCAGGGCCCTCCCCGCCACCGCCCCCCACCCCAGCCAGTACGCACTCATGGAGGACGAGGACGATCTCCCGCACCACGAGGAACGCACTTGGTACGTGGGCAAGATCAACCGCACGCAGGCAGAGGAGATGCTGAGTGGCAAGCGGGATGGCACCTTCCTCATCCGCGAGAGCAGCCAGCGGGGCTGCTACGCCTGCTCCGTGGTGTGAGTGGACCGCAGCGGTGGGGATTCCCGCGTCCCTCCCAGAGCTCTCATTGAATGCCTGCCGCGTGCCAGGCCTTGGGAAGGAGTCCCTGGTGGGGTCATCCGGGACAGGGGAGCACGCGGCCCTGGAACGGGGAAAGCTTGGCGGGGAGGCCAGCCTTCCGACTCCCCCTCTCGTCTGCCCCCACAGAGTGGACGGCGACACCAAGCACTGCGTCATCTACCGCACGGCCACCGGCTTCGGCTTCGCGGAGCCCTACAACCTGTACGGGTCGCTGAAGGAGCTGGTGCTGCACTACCAGCACGCCTCGCTGGTGCAGCACAACGACGCGCTCACCGTCACCCTGGCGCACCCAGTGCGCGCCCCGGGCCCCGGCCCGCCGCCTGCCG
Task1_train_26938
A variant affecting Chromosome 19, within the gene PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2), has been observed. Determine if it's benign or associated with disease.
Pathogenic; PIK3R2-related disorder
ATCCCTGTCTCTACTAAAAATACAAAAAATTAGGCGTCATGGCATGCACCTGTAATCGCAGCTACTCAAGAGGCTGAGGCAGGAGAATAGCTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCATCCTGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATGGTGGCTCACACCTGTAATACCAGCTACTTGGAAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCTCCAGCCTGGGCGACAAGAGCAAGACTCCATCTCAAACAAAAAAAATTTTGAGGTGCTGTCTCACCATGTTGCCCAGGCTGGCCTCAGACTCCTCAGGGTTCAAGAGATCCTCCCACTTTAGCCTCCCTACTAGCTGGGATTACAGGCATTCGCCACCACCCCTGGCCTCTGTCCCCTTTTTACTGATGTGTTAGCTGAGGCTCTAAATGGACAAGACAGTTGTCCAGGATCAGTTAGGAGCACTGTAACCTCAGAATTGACTTTGGCCCTGAGCCTCAGTTTCTCTGTTAATAGTTGTTACTTTGTTAGGGGTTGTTGGAAGGGTCCATGGGACAAAGTAAGGAAAGTCGTAGTGCGGCATCTCCCCCAAGAAGCCCTGTGAGCTGTAGCAACTAGATCTGTCATTCATTCTTAGCAGTGTTAACAGGTCCAGGTGTTTGTGGATACCTATAGGAGGATGTAAAGAAGAAGAGGGTTTGGGGGGTGGGGTTTTGAAGGCTGAATAGGAGTTCATTTGGTGCAGCAGGCGTTAGAAGAATGACACTCTGATAGAGGGACCAGCTTGAGCAGTCTCCGTATCAGAGTTGAGATGTGCCTTTACCCCTCACGAGGGCCTTTTGGGGAGTCCCAGGAGGTGCTGAGCTGCGCCCCCTCCTCCAGGAGCTGCAGATGAAGCGTACTGCAATTGAGGCCTTCAATGAGACTATCAAGATCTTTGAAGAGCAGGGCCAGACTCAAGAGAAATGCAGCAAGGAATACCTGGAGCGCTTCCGGCGTGAGGGCAACGAGAAAGAGATGCAAAGGTGAGTCTGGCGCCTCTGCCCTGCCCCACCCCACCCTGATCTGGTGCAGTACAAGCCAGGGAGGGAAGGAAGCAGAAGGAGGCCAGCCACTTGGAGGCAAAGAGTAGTCTGTTGAAATGGACTTTGGGCCTGGTGCGATGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGTGGATCTCCTGAGGCCAGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCTAGGCATGATGGTGCGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGTTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCTTGGGTGACAGAGAAAGACTGTCTCAAAAAAAAAAAAAAAAAAGAAATGGGCTTTGAAGGATGAATAGGAGTTTGCTAGAAAGAGAAATCAGAGGAAACAGCATATGCACAGGCTCAGAGGCTGGAAGCACATAGTCTGGTGCAAAGTAGGTCCTTGAGAAAACCCTGGAGGCCGGGTGCAGTGGCTCATTCCTGCAACCCCAACACTGTGGGAGGCTGAGGCAGGAGGATTGCTTGATCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAATCTACCTCTACAAAAAATATTAAAATGTTAGCCAGACATGGTGGTGCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGGGTCACCTGAGCCCAGGAGTTTGAGGGTGCAGTGAGCCGAGATAAAACCCTGAGGTCTCTGCGCCACCCCACCCCTCCCACAGGATCCTGCTGAACTCCGAGCGGCTCAAGTCCCGCATTGCCGAGATCCATGAGAGCCGCACGAAGCTGGAGCAGCAGCTGCGGGCCCAGGCCTCGGACAACAGAGAGATCGACAAGCGCATGAACAGCCTCAAGCCGGACCTCATGCAGCTGCGCAAGATCCGAGACCAGTACCTCGTGTAAGTGGCGGCTCCATACTTCCCTGCGGCTCCCTGGCGACTGCTGCGGCACATGGAGATCTCTCTAGGAGTCTCAGTCTCTCTCTCTCCACCAAGTGGCCCTTCCTGGGCCCCGAGACCCCTTAAACTCGGTTCCTCCCGGGCCCCTTGAAAGTTTTCCCATAGGTCAGCCTCAGCTTAGTCAGAGGTGTGTGCAATGGGAGTGTCACTCCTATCCCATTCCATTTTGTGGAAAGTTGGAAGCCTTCCACAAAAATTCCTGCTGGGCTGGGCGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATACAAAACCCGGCCAGGCATGGTGGTGGGCGCCTGTAATCCCAGTTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACGGGGAGGTGGAGTTTGCAGTGAGCAGAGATTATGCCAATGCAGTTCAGCCTGGGCAACAGAGCAACACTCTGCCTCAGAAAAGAAAAGAAAAAAAAAATCGCCTGCTGTGCAACCTACCATGCTGGGTGGCTGCGGCAGCCCTGTCCTGGGTTCAAATCAGTTCAAATCCTGCCCCCACCCACCAACCTCCTGAAGACCTCAGCCAGAGCCTCCACCTCCCTCTTGGGCCTCAGGGAGGGCACTGTCGCGTGCCAGGTGCTGTGCTAAGCACCGTGCTCGTTATGAGTTCATTTGGTCCTTTTCAAGCCCTTTGTAAAGTTTGCCCTTTACAGCTGGGGAGACTGAGGCACAGAACCGACAGCTGCCCTGTGCAAAGGCCAGCAGTGCTGGAGTGAGCCTCTGGTGATGATGAGGGGCCTGGGCTGGCATCTTCTTGGGGGACTCCATAGGCGTTAACAGAAACAAAAAAATGAGGGGTGTGGGTCAGGGTTCCCCAGCAGAGCTGGGCGAGCCACCCTGGGTTCAGGCTGCCCTGAGCCAGGTCAGCTCTGCCCTCTTGTGGCAACCGGAGATATTGTACCCAGAACCCTCTCTCCTCAGCCAGACCCTGCCTCCCACCGGACAGGCCCACTGTGGGCTCAGCACCCACACAACTGCACAAGCCCACCTTTCCTGTTCCTTCTCAGGTGGCTCACCCAGAAAGGCGCCCGGCAGAAGAAAATCAACGAGTGGCTGGGGATTAAAAATGAGACTGAGGAGTGAGTGACCGTCTGGAGGGAGGCAGGGAGGGCTTCCCAGAGGAGGGGGCCATTTGGGGTGGGTTTCGAAGAATGAGTAGGAGTTCACCAGGGAGGAAAAGTTGTCCAGGCAGCTGGGGAGCCTCGGAGGCTGGCAGGTGAGTGACCAGGGCCCTCCCCGCCACCGCCCCCCACCCCAGCCAGTACGCACTCATGGAGGACGAGGACGATCTCCCGCACCACGAGGAACGCACTTGGTACGTGGGCAAGATCAACCGCACGCAGGCAGAGGAGATGCTGAGTGGCAAGCGGGATGGCACCTTCCTCATCCGCGAGAGCAGCCAGCGGGGCTGCTACGCCTGCTCCGTGGTGTGAGTGGACCGCAGCGGTGGGGATTCCCGCGTCCCTCCCAGAGCTCTCATTGAATGCCTGCCGCGTGCCAGGCCTTGGGAAGGAGTCCCTGGTGGGGTCATCCGGGACAGGGGAGCACGCGGCCCTGGAACGGGGAAAGCTTGGCGGGGAGGCCAGCCTTCCGACTCCCCCTCTCGTCTGCCCCCACAGAGTGGACGGCGACACCAAGCACTGCGTCATCTACCGCACGGCCACCGGCTTCGGCTTCGCGGAGCCCTACAACCTGTACGGGTCGCTGAAGGAGCTGGTGCTGCACTACCAGCACGCCTCGCTGGTGCAGCACAACGACGCGCTCACCGTCACCCTGGCGCACCCAGTGCGCGCCCCGGGCCCCGGCCCGCCGCCTGCCG
ATCCCTGTCTCTACTAAAAATACAAAAAATTAGGCGTCATGGCATGCACCTGTAATCGCAGCTACTCAAGAGGCTGAGGCAGGAGAATAGCTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCATCCTGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATGGTGGCTCACACCTGTAATACCAGCTACTTGGAAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCTCCAGCCTGGGCGACAAGAGCAAGACTCCATCTCAAACAAAAAAAATTTTGAGGTGCTGTCTCACCATGTTGCCCAGGCTGGCCTCAGACTCCTCAGGGTTCAAGAGATCCTCCCACTTTAGCCTCCCTACTAGCTGGGATTACAGGCATTCGCCACCACCCCTGGCCTCTGTCCCCTTTTTACTGATGTGTTAGCTGAGGCTCTAAATGGACAAGACAGTTGTCCAGGATCAGTTAGGAGCACTGTAACCTCAGAATTGACTTTGGCCCTGAGCCTCAGTTTCTCTGTTAATAGTTGTTACTTTGTTAGGGGTTGTTGGAAGGGTCCATGGGACAAAGTAAGGAAAGTCGTAGTGCGGCATCTCCCCCAAGAAGCCCTGTGAGCTGTAGCAACTAGATCTGTCATTCATTCTTAGCAGTGTTAACAGGTCCAGGTGTTTGTGGATACCTATAGGAGGATGTAAAGAAGAAGAGGGTTTGGGGGGTGGGGTTTTGAAGGCTGAATAGGAGTTCATTTGGTGCAGCAGGCGTTAGAAGAATGACACTCTGATAGAGGGACCAGCTTGAGCAGTCTCCGTATCAGAGTTGAGATGTGCCTTTACCCCTCACGAGGGCCTTTTGGGGAGTCCCAGGAGGTGCTGAGCTGCGCCCCCTCCTCCAGGAGCTGCAGATGAAGCGTACTGCAATTGAGGCCTTCAATGAGACTATCAAGATCTTTGAAGAGCAGGGCCAGACTCAAGAGAAATGCAGCAAGGAATACCTGGAGCGCTTCCGGCGTGAGGGCAACGAGAAAGAGATGCAAAGGTGAGTCTGGCGCCTCTGCCCTGCCCCACCCCACCCTGATCTGGTGCAGTACAAGCCAGGGAGGGAAGGAAGCAGAAGGAGGCCAGCCACTTGGAGGCAAAGAGTAGTCTGTTGAAATGGACTTTGGGCCTGGTGCGATGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGTGGATCTCCTGAGGCCAGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCTAGGCATGATGGTGCGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGTTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCTTGGGTGACAGAGAAAGACTGTCTCAAAAAAAAAAAAAAAAAAGAAATGGGCTTTGAAGGATGAATAGGAGTTTGCTAGAAAGAGAAATCAGAGGAAACAGCATATGCACAGGCTCAGAGGCTGGAAGCACATAGTCTGGTGCAAAGTAGGTCCTTGAGAAAACCCTGGAGGCCGGGTGCAGTGGCTCATTCCTGCAACCCCAACACTGTGGGAGGCTGAGGCAGGAGGATTGCTTGATCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAATCTACCTCTACAAAAAATATTAAAATGTTAGCCAGACATGGTGGTGCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGGGTCACCTGAGCCCAGGAGTTTGAGGGTGCAGTGAGCCGAGATAAAACCCTGAGGTCTCTGCGCCACCCCACCCCTCCCACAGGATCCTGCTGAACTCCGAGCGGCTCAAGTCCCGCATTGCCGAGATCCATGAGAGCCGCACGAAGCTGGAGCAGCAGCTGCGGGCCCAGGCCTCGGACAACAGAGAGATCTACAAGCGCATGAACAGCCTCAAGCCGGACCTCATGCAGCTGCGCAAGATCCGAGACCAGTACCTCGTGTAAGTGGCGGCTCCATACTTCCCTGCGGCTCCCTGGCGACTGCTGCGGCACATGGAGATCTCTCTAGGAGTCTCAGTCTCTCTCTCTCCACCAAGTGGCCCTTCCTGGGCCCCGAGACCCCTTAAACTCGGTTCCTCCCGGGCCCCTTGAAAGTTTTCCCATAGGTCAGCCTCAGCTTAGTCAGAGGTGTGTGCAATGGGAGTGTCACTCCTATCCCATTCCATTTTGTGGAAAGTTGGAAGCCTTCCACAAAAATTCCTGCTGGGCTGGGCGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATACAAAACCCGGCCAGGCATGGTGGTGGGCGCCTGTAATCCCAGTTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACGGGGAGGTGGAGTTTGCAGTGAGCAGAGATTATGCCAATGCAGTTCAGCCTGGGCAACAGAGCAACACTCTGCCTCAGAAAAGAAAAGAAAAAAAAAATCGCCTGCTGTGCAACCTACCATGCTGGGTGGCTGCGGCAGCCCTGTCCTGGGTTCAAATCAGTTCAAATCCTGCCCCCACCCACCAACCTCCTGAAGACCTCAGCCAGAGCCTCCACCTCCCTCTTGGGCCTCAGGGAGGGCACTGTCGCGTGCCAGGTGCTGTGCTAAGCACCGTGCTCGTTATGAGTTCATTTGGTCCTTTTCAAGCCCTTTGTAAAGTTTGCCCTTTACAGCTGGGGAGACTGAGGCACAGAACCGACAGCTGCCCTGTGCAAAGGCCAGCAGTGCTGGAGTGAGCCTCTGGTGATGATGAGGGGCCTGGGCTGGCATCTTCTTGGGGGACTCCATAGGCGTTAACAGAAACAAAAAAATGAGGGGTGTGGGTCAGGGTTCCCCAGCAGAGCTGGGCGAGCCACCCTGGGTTCAGGCTGCCCTGAGCCAGGTCAGCTCTGCCCTCTTGTGGCAACCGGAGATATTGTACCCAGAACCCTCTCTCCTCAGCCAGACCCTGCCTCCCACCGGACAGGCCCACTGTGGGCTCAGCACCCACACAACTGCACAAGCCCACCTTTCCTGTTCCTTCTCAGGTGGCTCACCCAGAAAGGCGCCCGGCAGAAGAAAATCAACGAGTGGCTGGGGATTAAAAATGAGACTGAGGAGTGAGTGACCGTCTGGAGGGAGGCAGGGAGGGCTTCCCAGAGGAGGGGGCCATTTGGGGTGGGTTTCGAAGAATGAGTAGGAGTTCACCAGGGAGGAAAAGTTGTCCAGGCAGCTGGGGAGCCTCGGAGGCTGGCAGGTGAGTGACCAGGGCCCTCCCCGCCACCGCCCCCCACCCCAGCCAGTACGCACTCATGGAGGACGAGGACGATCTCCCGCACCACGAGGAACGCACTTGGTACGTGGGCAAGATCAACCGCACGCAGGCAGAGGAGATGCTGAGTGGCAAGCGGGATGGCACCTTCCTCATCCGCGAGAGCAGCCAGCGGGGCTGCTACGCCTGCTCCGTGGTGTGAGTGGACCGCAGCGGTGGGGATTCCCGCGTCCCTCCCAGAGCTCTCATTGAATGCCTGCCGCGTGCCAGGCCTTGGGAAGGAGTCCCTGGTGGGGTCATCCGGGACAGGGGAGCACGCGGCCCTGGAACGGGGAAAGCTTGGCGGGGAGGCCAGCCTTCCGACTCCCCCTCTCGTCTGCCCCCACAGAGTGGACGGCGACACCAAGCACTGCGTCATCTACCGCACGGCCACCGGCTTCGGCTTCGCGGAGCCCTACAACCTGTACGGGTCGCTGAAGGAGCTGGTGCTGCACTACCAGCACGCCTCGCTGGTGCAGCACAACGACGCGCTCACCGTCACCCTGGCGCACCCAGTGCGCGCCCCGGGCCCCGGCCCGCCGCCTGCCG
Task1_train_26939
This sequence variant lies in PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2) on Chromosome 19. Is it clinically significant, and what condition might it cause if any?
Pathogenic; not provided
ACAAAAAATTAGGCGTCATGGCATGCACCTGTAATCGCAGCTACTCAAGAGGCTGAGGCAGGAGAATAGCTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCATCCTGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATGGTGGCTCACACCTGTAATACCAGCTACTTGGAAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCTCCAGCCTGGGCGACAAGAGCAAGACTCCATCTCAAACAAAAAAAATTTTGAGGTGCTGTCTCACCATGTTGCCCAGGCTGGCCTCAGACTCCTCAGGGTTCAAGAGATCCTCCCACTTTAGCCTCCCTACTAGCTGGGATTACAGGCATTCGCCACCACCCCTGGCCTCTGTCCCCTTTTTACTGATGTGTTAGCTGAGGCTCTAAATGGACAAGACAGTTGTCCAGGATCAGTTAGGAGCACTGTAACCTCAGAATTGACTTTGGCCCTGAGCCTCAGTTTCTCTGTTAATAGTTGTTACTTTGTTAGGGGTTGTTGGAAGGGTCCATGGGACAAAGTAAGGAAAGTCGTAGTGCGGCATCTCCCCCAAGAAGCCCTGTGAGCTGTAGCAACTAGATCTGTCATTCATTCTTAGCAGTGTTAACAGGTCCAGGTGTTTGTGGATACCTATAGGAGGATGTAAAGAAGAAGAGGGTTTGGGGGGTGGGGTTTTGAAGGCTGAATAGGAGTTCATTTGGTGCAGCAGGCGTTAGAAGAATGACACTCTGATAGAGGGACCAGCTTGAGCAGTCTCCGTATCAGAGTTGAGATGTGCCTTTACCCCTCACGAGGGCCTTTTGGGGAGTCCCAGGAGGTGCTGAGCTGCGCCCCCTCCTCCAGGAGCTGCAGATGAAGCGTACTGCAATTGAGGCCTTCAATGAGACTATCAAGATCTTTGAAGAGCAGGGCCAGACTCAAGAGAAATGCAGCAAGGAATACCTGGAGCGCTTCCGGCGTGAGGGCAACGAGAAAGAGATGCAAAGGTGAGTCTGGCGCCTCTGCCCTGCCCCACCCCACCCTGATCTGGTGCAGTACAAGCCAGGGAGGGAAGGAAGCAGAAGGAGGCCAGCCACTTGGAGGCAAAGAGTAGTCTGTTGAAATGGACTTTGGGCCTGGTGCGATGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGTGGATCTCCTGAGGCCAGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCTAGGCATGATGGTGCGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGTTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCTTGGGTGACAGAGAAAGACTGTCTCAAAAAAAAAAAAAAAAAAGAAATGGGCTTTGAAGGATGAATAGGAGTTTGCTAGAAAGAGAAATCAGAGGAAACAGCATATGCACAGGCTCAGAGGCTGGAAGCACATAGTCTGGTGCAAAGTAGGTCCTTGAGAAAACCCTGGAGGCCGGGTGCAGTGGCTCATTCCTGCAACCCCAACACTGTGGGAGGCTGAGGCAGGAGGATTGCTTGATCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAATCTACCTCTACAAAAAATATTAAAATGTTAGCCAGACATGGTGGTGCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGGGTCACCTGAGCCCAGGAGTTTGAGGGTGCAGTGAGCCGAGATAAAACCCTGAGGTCTCTGCGCCACCCCACCCCTCCCACAGGATCCTGCTGAACTCCGAGCGGCTCAAGTCCCGCATTGCCGAGATCCATGAGAGCCGCACGAAGCTGGAGCAGCAGCTGCGGGCCCAGGCCTCGGACAACAGAGAGATCGACAAGCGCATGAACAGCCTCAAGCCGGACCTCATGCAGCTGCGCAAGATCCGAGACCAGTACCTCGTGTAAGTGGCGGCTCCATACTTCCCTGCGGCTCCCTGGCGACTGCTGCGGCACATGGAGATCTCTCTAGGAGTCTCAGTCTCTCTCTCTCCACCAAGTGGCCCTTCCTGGGCCCCGAGACCCCTTAAACTCGGTTCCTCCCGGGCCCCTTGAAAGTTTTCCCATAGGTCAGCCTCAGCTTAGTCAGAGGTGTGTGCAATGGGAGTGTCACTCCTATCCCATTCCATTTTGTGGAAAGTTGGAAGCCTTCCACAAAAATTCCTGCTGGGCTGGGCGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATACAAAACCCGGCCAGGCATGGTGGTGGGCGCCTGTAATCCCAGTTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACGGGGAGGTGGAGTTTGCAGTGAGCAGAGATTATGCCAATGCAGTTCAGCCTGGGCAACAGAGCAACACTCTGCCTCAGAAAAGAAAAGAAAAAAAAAATCGCCTGCTGTGCAACCTACCATGCTGGGTGGCTGCGGCAGCCCTGTCCTGGGTTCAAATCAGTTCAAATCCTGCCCCCACCCACCAACCTCCTGAAGACCTCAGCCAGAGCCTCCACCTCCCTCTTGGGCCTCAGGGAGGGCACTGTCGCGTGCCAGGTGCTGTGCTAAGCACCGTGCTCGTTATGAGTTCATTTGGTCCTTTTCAAGCCCTTTGTAAAGTTTGCCCTTTACAGCTGGGGAGACTGAGGCACAGAACCGACAGCTGCCCTGTGCAAAGGCCAGCAGTGCTGGAGTGAGCCTCTGGTGATGATGAGGGGCCTGGGCTGGCATCTTCTTGGGGGACTCCATAGGCGTTAACAGAAACAAAAAAATGAGGGGTGTGGGTCAGGGTTCCCCAGCAGAGCTGGGCGAGCCACCCTGGGTTCAGGCTGCCCTGAGCCAGGTCAGCTCTGCCCTCTTGTGGCAACCGGAGATATTGTACCCAGAACCCTCTCTCCTCAGCCAGACCCTGCCTCCCACCGGACAGGCCCACTGTGGGCTCAGCACCCACACAACTGCACAAGCCCACCTTTCCTGTTCCTTCTCAGGTGGCTCACCCAGAAAGGCGCCCGGCAGAAGAAAATCAACGAGTGGCTGGGGATTAAAAATGAGACTGAGGAGTGAGTGACCGTCTGGAGGGAGGCAGGGAGGGCTTCCCAGAGGAGGGGGCCATTTGGGGTGGGTTTCGAAGAATGAGTAGGAGTTCACCAGGGAGGAAAAGTTGTCCAGGCAGCTGGGGAGCCTCGGAGGCTGGCAGGTGAGTGACCAGGGCCCTCCCCGCCACCGCCCCCCACCCCAGCCAGTACGCACTCATGGAGGACGAGGACGATCTCCCGCACCACGAGGAACGCACTTGGTACGTGGGCAAGATCAACCGCACGCAGGCAGAGGAGATGCTGAGTGGCAAGCGGGATGGCACCTTCCTCATCCGCGAGAGCAGCCAGCGGGGCTGCTACGCCTGCTCCGTGGTGTGAGTGGACCGCAGCGGTGGGGATTCCCGCGTCCCTCCCAGAGCTCTCATTGAATGCCTGCCGCGTGCCAGGCCTTGGGAAGGAGTCCCTGGTGGGGTCATCCGGGACAGGGGAGCACGCGGCCCTGGAACGGGGAAAGCTTGGCGGGGAGGCCAGCCTTCCGACTCCCCCTCTCGTCTGCCCCCACAGAGTGGACGGCGACACCAAGCACTGCGTCATCTACCGCACGGCCACCGGCTTCGGCTTCGCGGAGCCCTACAACCTGTACGGGTCGCTGAAGGAGCTGGTGCTGCACTACCAGCACGCCTCGCTGGTGCAGCACAACGACGCGCTCACCGTCACCCTGGCGCACCCAGTGCGCGCCCCGGGCCCCGGCCCGCCGCCTGCCGCCCGCTGAGCACCGAGGACCC
ACAAAAAATTAGGCGTCATGGCATGCACCTGTAATCGCAGCTACTCAAGAGGCTGAGGCAGGAGAATAGCTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCATCCTGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATGGTGGCTCACACCTGTAATACCAGCTACTTGGAAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCTCCAGCCTGGGCGACAAGAGCAAGACTCCATCTCAAACAAAAAAAATTTTGAGGTGCTGTCTCACCATGTTGCCCAGGCTGGCCTCAGACTCCTCAGGGTTCAAGAGATCCTCCCACTTTAGCCTCCCTACTAGCTGGGATTACAGGCATTCGCCACCACCCCTGGCCTCTGTCCCCTTTTTACTGATGTGTTAGCTGAGGCTCTAAATGGACAAGACAGTTGTCCAGGATCAGTTAGGAGCACTGTAACCTCAGAATTGACTTTGGCCCTGAGCCTCAGTTTCTCTGTTAATAGTTGTTACTTTGTTAGGGGTTGTTGGAAGGGTCCATGGGACAAAGTAAGGAAAGTCGTAGTGCGGCATCTCCCCCAAGAAGCCCTGTGAGCTGTAGCAACTAGATCTGTCATTCATTCTTAGCAGTGTTAACAGGTCCAGGTGTTTGTGGATACCTATAGGAGGATGTAAAGAAGAAGAGGGTTTGGGGGGTGGGGTTTTGAAGGCTGAATAGGAGTTCATTTGGTGCAGCAGGCGTTAGAAGAATGACACTCTGATAGAGGGACCAGCTTGAGCAGTCTCCGTATCAGAGTTGAGATGTGCCTTTACCCCTCACGAGGGCCTTTTGGGGAGTCCCAGGAGGTGCTGAGCTGCGCCCCCTCCTCCAGGAGCTGCAGATGAAGCGTACTGCAATTGAGGCCTTCAATGAGACTATCAAGATCTTTGAAGAGCAGGGCCAGACTCAAGAGAAATGCAGCAAGGAATACCTGGAGCGCTTCCGGCGTGAGGGCAACGAGAAAGAGATGCAAAGGTGAGTCTGGCGCCTCTGCCCTGCCCCACCCCACCCTGATCTGGTGCAGTACAAGCCAGGGAGGGAAGGAAGCAGAAGGAGGCCAGCCACTTGGAGGCAAAGAGTAGTCTGTTGAAATGGACTTTGGGCCTGGTGCGATGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGTGGATCTCCTGAGGCCAGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCTAGGCATGATGGTGCGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGTTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCTTGGGTGACAGAGAAAGACTGTCTCAAAAAAAAAAAAAAAAAAGAAATGGGCTTTGAAGGATGAATAGGAGTTTGCTAGAAAGAGAAATCAGAGGAAACAGCATATGCACAGGCTCAGAGGCTGGAAGCACATAGTCTGGTGCAAAGTAGGTCCTTGAGAAAACCCTGGAGGCCGGGTGCAGTGGCTCATTCCTGCAACCCCAACACTGTGGGAGGCTGAGGCAGGAGGATTGCTTGATCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAATCTACCTCTACAAAAAATATTAAAATGTTAGCCAGACATGGTGGTGCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGGGTCACCTGAGCCCAGGAGTTTGAGGGTGCAGTGAGCCGAGATAAAACCCTGAGGTCTCTGCGCCACCCCACCCCTCCCACAGGATCCTGCTGAACTCCGAGCGGCTCAAGTCCCGCATTGCCGAGATCCATGAGAGCCGCACGAAGCTGGAGCAGCAGCTGCGGGCCCAGGCCTCGGACAACAGAGAGATCGACAAGCGCATGAACAGCCTCGAGCCGGACCTCATGCAGCTGCGCAAGATCCGAGACCAGTACCTCGTGTAAGTGGCGGCTCCATACTTCCCTGCGGCTCCCTGGCGACTGCTGCGGCACATGGAGATCTCTCTAGGAGTCTCAGTCTCTCTCTCTCCACCAAGTGGCCCTTCCTGGGCCCCGAGACCCCTTAAACTCGGTTCCTCCCGGGCCCCTTGAAAGTTTTCCCATAGGTCAGCCTCAGCTTAGTCAGAGGTGTGTGCAATGGGAGTGTCACTCCTATCCCATTCCATTTTGTGGAAAGTTGGAAGCCTTCCACAAAAATTCCTGCTGGGCTGGGCGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATACAAAACCCGGCCAGGCATGGTGGTGGGCGCCTGTAATCCCAGTTACTCAAGAGGCTGAGGCAGGAGAATCACTTGAACGGGGAGGTGGAGTTTGCAGTGAGCAGAGATTATGCCAATGCAGTTCAGCCTGGGCAACAGAGCAACACTCTGCCTCAGAAAAGAAAAGAAAAAAAAAATCGCCTGCTGTGCAACCTACCATGCTGGGTGGCTGCGGCAGCCCTGTCCTGGGTTCAAATCAGTTCAAATCCTGCCCCCACCCACCAACCTCCTGAAGACCTCAGCCAGAGCCTCCACCTCCCTCTTGGGCCTCAGGGAGGGCACTGTCGCGTGCCAGGTGCTGTGCTAAGCACCGTGCTCGTTATGAGTTCATTTGGTCCTTTTCAAGCCCTTTGTAAAGTTTGCCCTTTACAGCTGGGGAGACTGAGGCACAGAACCGACAGCTGCCCTGTGCAAAGGCCAGCAGTGCTGGAGTGAGCCTCTGGTGATGATGAGGGGCCTGGGCTGGCATCTTCTTGGGGGACTCCATAGGCGTTAACAGAAACAAAAAAATGAGGGGTGTGGGTCAGGGTTCCCCAGCAGAGCTGGGCGAGCCACCCTGGGTTCAGGCTGCCCTGAGCCAGGTCAGCTCTGCCCTCTTGTGGCAACCGGAGATATTGTACCCAGAACCCTCTCTCCTCAGCCAGACCCTGCCTCCCACCGGACAGGCCCACTGTGGGCTCAGCACCCACACAACTGCACAAGCCCACCTTTCCTGTTCCTTCTCAGGTGGCTCACCCAGAAAGGCGCCCGGCAGAAGAAAATCAACGAGTGGCTGGGGATTAAAAATGAGACTGAGGAGTGAGTGACCGTCTGGAGGGAGGCAGGGAGGGCTTCCCAGAGGAGGGGGCCATTTGGGGTGGGTTTCGAAGAATGAGTAGGAGTTCACCAGGGAGGAAAAGTTGTCCAGGCAGCTGGGGAGCCTCGGAGGCTGGCAGGTGAGTGACCAGGGCCCTCCCCGCCACCGCCCCCCACCCCAGCCAGTACGCACTCATGGAGGACGAGGACGATCTCCCGCACCACGAGGAACGCACTTGGTACGTGGGCAAGATCAACCGCACGCAGGCAGAGGAGATGCTGAGTGGCAAGCGGGATGGCACCTTCCTCATCCGCGAGAGCAGCCAGCGGGGCTGCTACGCCTGCTCCGTGGTGTGAGTGGACCGCAGCGGTGGGGATTCCCGCGTCCCTCCCAGAGCTCTCATTGAATGCCTGCCGCGTGCCAGGCCTTGGGAAGGAGTCCCTGGTGGGGTCATCCGGGACAGGGGAGCACGCGGCCCTGGAACGGGGAAAGCTTGGCGGGGAGGCCAGCCTTCCGACTCCCCCTCTCGTCTGCCCCCACAGAGTGGACGGCGACACCAAGCACTGCGTCATCTACCGCACGGCCACCGGCTTCGGCTTCGCGGAGCCCTACAACCTGTACGGGTCGCTGAAGGAGCTGGTGCTGCACTACCAGCACGCCTCGCTGGTGCAGCACAACGACGCGCTCACCGTCACCCTGGCGCACCCAGTGCGCGCCCCGGGCCCCGGCCCGCCGCCTGCCGCCCGCTGAGCACCGAGGACCC
Task1_train_26940
The following genetic variant occurs in CRLF1 (cytokine receptor like factor 1) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Cold-induced sweating syndrome 1
TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCTCCCTTCCACTCTTACTGAAATCTTTGATGTGACATTTTGCTGGGTGCAGAGAAGCAACTGAGGCTTAGAACTTTCCCACTGTAGCGTTAGGATGTGGGGAAGAGTGAGGCAGGCTGCGGGGGCAGGGATGGGGGCTACAACCCAGGCGTATGTGTGTGTTGGGGGGTTCTGAGGATCCTTCTGGGGGCCCCTGAGGGCAGCAGGGTGAGCTGGCCTCTCCCCCTGAGGCCTTGGTGAGGGGCCTAAAGGGTTAAGGCACAGGCCTGCTTGGGGCTGAGAAACACCCTAATTAGATTAGGCTCAATTCTGCTCACAGATCATCCATTTCCTGCCTCCCGCCCTGCGCCCCCCAGCTCCAGGCCTCGGCTTCCTGGGGCGCCTCCCGACCTGGGCGCCCCCTCCCCTCTCCCCAGGGCCCCCTCCTGCACACCTGGGCTGCCGAGGGGGTGGTGGCCAGGCCAGGTGTTCTCTGTGGAGTGGGGGTATCCTGGCTGTTTCTGGGGGCTGCGGACTGATGAGCGGATGCTCAGCTACTTACCTACCTTCCCTCTGACCAGCAGGGACAACCCGGGAGTTGCCGGGCTGGGGAGGGGCAGGTGGGACCCTAGGAAAAATGAGAAGGTGCAGGGGACCCCTCGGGATGCTCGGTGGGTGGGGCTGGTGCCGAGGGAGGGGCCTAGCAGACACTGGGGGCTCACCCACATCCAGGATATCCAGCGTGAGTACATCGGAGCGGGCAGAGCCCAGGCGGTTGGTGGCCTCCACCCAGATCTCATAGGGCGTAAAGAGAGCCAGGTCCTTGGGGATGTGGCAGGAGTGGGGCCCCACTGTGTGGTACTCCTCACATGTGTTGTCCTGGCCATACCACCTGCGGGGATGGGAGGGCGACAGGACGCATGAGGGTTCCTTGTGGCCCCCAGACCTCACCATGGCAGCCTCAGGGTGCAGACAACACATGGGGGCTCAGAGAGGGTCCGCGTTGGTCAAGGTCACGCAGCCAGCCTGGGACACACACATCGCCCTCAGGCCACCACCAACCTAAGCTTGTACTTGAGGGAGTAGTTGGTGTGGAGGAAGGTCTCCCCGTGGGCCCCTGGCGTCCAGCGGCAGGTCAAGTCCTTCATGTTCTTGGACCAGCAGCTGATGTTGACGGGTTTCTCTGGGGGCACTGGGAGAAGGGGAGGGTGCAGGAAGCAGGCTGAGGGTCTGGACTAGCTGAGCCTCGGCTGAGGGGTTGCTGCCCACCCACCAGGCCCCCACCTTGGAGTGGAAGGAGGGCAGACAGGACAGTCTCAGCCCTGTGCTGAGAAATGCCAGCACAGTTGGTGTGACAACTGCAAGGGCTCTTGAGAGGCTGGTGACTCGATCTCCGGGTTCTTTTTCTTTTTTCGAGGCAAAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAATGGTGCCATCTCAGCTCACTGCAACTTCCGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGTCAGCACGCCTGGCTAAGTATTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTAGGCCAGCCTGGCCTCGAACTCCTGGCTTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGCTTACAGACATGAGCCACCTTGCCCGACCGGGTCTCCAGGTTCTCATTCCCACCTGAAAGACCTGCATAGCCATGCCAGTGTGCCCACAGCTCATCCCCAGGCCAGAAGGCCCACAATTCATGCCTCACTCCAGAGGGAGATGCCGCTCCCAAGAGCTACCCCTGGGGTGTCCTGGGTGCCAACTTACGGCCAACATAGAGGCAGGAGCCAGCCAGGATGCTGCCGTCACGGGCGTGGCACACGAGGTTGTCCCCCGACCGCTGCCTGGACCCATTGAGGTTGGCCAGGGCCAGAGCCAAGGTGGAGGCGTTGAGTACACGGGAGAGCTCAGGGGGCAGGCGGCGCCCGTTGAGGGTCCAGTAGAGGCCCTCGGCGGTGGCTCCTGGTGGGTCTCCGTGCACTGAGCAGGTGGCCAGCAGGGAGGAGCCGATGAGAAGCGTGGGATCCTGGGGACTGATCACAGCTGTGTCTGGGGTCAAAGAGGAACACGTGTCAGGCCAGGGCGGGGACCCTCCAAGCCCCCAACCATGCCAGGACCTCCAGGGTTCATGGTGGTCCTGAAAAGACGCTGTTAATGATTGTCCCCCATTTTACAGATAGGGAAGGTAGAGATCAGTTGGGTTAAATGCCCAGGGCAACACTGGTGGCCAAACTGACAGACCTGGAGTTGTCCAGGTCTGTCTGACTCCAACACTGGATCCTTCCAAAACTCTTCATCACTGACATGCTTAAGGTTCTCTGAGGGGTCACACAACTCGGGCATAGAGGCTCATTCGGATCCAAGTGACTCTTGCTTAGCACATCGTTATGACAAACACTATGCTTTGCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTCCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTTCAGGTGTGCACCACCATGCCTGACTAACTTTTGTATTTTTTTTTTTTTGAGACGCAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGATCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACGCGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCATCCGTATGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTCCCTCGGCCTCTCAAAGTGCTGGGATTACAGGAGTGAGCCAATACACCCAGGCATGCTTTGCTTTTTATTTTTTTAGCGACAGGGTCTCACTCTGTTGGCCAGGCTGGAGTGCAGTGGCACGATCATAGCTCACTGCAGCCTCGATCTCCTGGGTTCAAGTGATCCTCCCTCATCTCAGCTCCCAAGTAGCTGGGACTACAGGTGTGCACCACCACACCTGGCTGATTTTTAAATATTTTTTTAGAGATGAGGTCTCGCTAGTTTGCTCAGGCCGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTCCTGGGATCACAGGCATGAGCTTCGGTGCCTAGCCTTCTTTATTTTTCATTCTCATTTTGTTTTTCTTTTTTGGCAACTAGAAACAAAAGATTGTGGGTTCTTCCTGTGATGCTCCCAGAGCCTCACACATAGTAGGTGTTTCTGTGGGGGAAGGGCACTGCTTAAAATGAAAGCCCTGACCCTTACTTGAATCATTAAGAGCACCATGTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCGTCAGCCTCCCGAGTAGCTGGGATTACAGGCACACATCACCGTGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGTGGTTTCACCGTGCTGGTCAGGCTGGTTTCGAACTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAACCACCGCGCCCAGCCTGTATTTTTAGTAGAGTCCAAGAATCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAAGTGATCCACTCGCCTCAGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCATTGCGCCTGGCCTAACAGCACCATTTATTGAGCACTTGTTGTGTTCTGAATACTGGGCTAAGACTACCTACATTTTCTCGGCCAATCCTGCT
TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCTCCCTTCCACTCTTACTGAAATCTTTGATGTGACATTTTGCTGGGTGCAGAGAAGCAACTGAGGCTTAGAACTTTCCCACTGTAGCGTTAGGATGTGGGGAAGAGTGAGGCAGGCTGCGGGGGCAGGGATGGGGGCTACAACCCAGGCGTATGTGTGTGTTGGGGGGTTCTGAGGATCCTTCTGGGGGCCCCTGAGGGCAGCAGGGTGAGCTGGCCTCTCCCCCTGAGGCCTTGGTGAGGGGCCTAAAGGGTTAAGGCACAGGCCTGCTTGGGGCTGAGAAACACCCTAATTAGATTAGGCTCAATTCTGCTCACAGATCATCCATTTCCTGCCTCCCGCCCTGCGCCCCCCAGCTCCAGGCCTCGGCTTCCTGGGGCGCCTCCCGACCTGGGCGCCCCCTCCCCTCTCCCCAGGGCCCCCTCCTGCACACCTGGGCTGCCGAGGGGGTGGTGGCCAGGCCAGGTGTTCTCTGTGGAGTGGGGGTATCCTGGCTGTTTCTGGGGGCTGCGGACTGATGAGCGGATGCTCAGCTACTTACCTACCTTCCCTCTGACCAGCAGGGACAACCCGGGAGTTGCCGGGCTGGGGAGGGGCAGGTGGGACCCTAGGAAAAATGAGAAGGTGCAGGGGACCCCTCGGGATGCTCGGTGGGTGGGGCTGGTGCCGAGGGAGGGGCCTAGCAGACACTGGGGGCTCACCCACATCCAGGATATCCAGCGTGAGTACATCGGAGCGGGCAGAGCCCAGGCGGTTGGTGGCCTCCACCCAGATCTCATAGGGCGTAAAGAGAGCCAGGTCCTTGGGGATGTGGCAGGAGTGGGGCCCCACTGTGTGGTACTCCTCACATGTGTTGTCCTGGCCATACCACCTGCGGGGATGGGAGGGCGACAGGACGCATGAGGGTTCCTTGTGGCCCCCAGACCTCACCATGGCAGCCTCAGGGTGCAGACAACACATGGGGGCTCAGAGAGGGTCCGCGTTGGTCAAGGTCACGCAGCCAGCCTGGGACACACACATCGCCCTCAGGCCACCACCAACCTAAGCTTGTACTTGAGGGAGTAGTTGGTGTGGAGGAAGGTCTCCCCGTGGGCCCCTGGCGTCCAGCGGCAGGTCAAGTCCTTCATGTTCTTGGACCAGCAGCTGATGTTGACGGGTTTCTCTGGGGGCACTGGGAGAAGGGGAGGGTGCAGGAAGCAGGCTGAGGGTCTGGACTAGCTGAGCCTCGGCTGAGGGGTTGCTGCCCACCCACCAGGCCCCCACCTTGGAGTGGAAGGAGGGCAGACAGGACAGTCTCAGCCCTGTGCTGAGAAATGCCAGCACAGTTGGTGTGACAACTGCAAGGGCTCTTGAGAGGCTGGTGACTCGATCTCCGGGTTCTTTTTCTTTTTTCGAGGCAAAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAATGGTGCCATCTCAGCTCACTGCAACTTCCGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGTCAGCACGCCTGGCTAAGTATTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTAGGCCAGCCTGGCCTCGAACTCCTGGCTTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGCTTACAGACATGAGCCACCTTGCCCGACCGGGTCTCCAGGTTCTCATTCCCACCTGAAAGACCTGCATAGCCATGCCAGTGTGCCCACAGCTCATCCCCAGGCCAGAAGGCCCACAATTCATGCCTCACTCCAGAGGGAGATGCCGCTCCCAAGAGCTACCCCTGGGGTGTCCTGGGTGCCAACTTACGGCCAACATAGAGGCAGGAGCCAGCCAGGATGCTGCCGTCACGGGCGTGGCACACGAGGTTGTCCCCCGACCGCTGCCTGGACCCATTGAGGTTGGCCAGGGCCAGAGCCAAGGTGGAGGCGTTGAGTACACGGGAGAGCTCAGGGGGCAGGCGGCGCCCGTTGAGGGTCCCGTAGAGGCCCTCGGCGGTGGCTCCTGGTGGGTCTCCGTGCACTGAGCAGGTGGCCAGCAGGGAGGAGCCGATGAGAAGCGTGGGATCCTGGGGACTGATCACAGCTGTGTCTGGGGTCAAAGAGGAACACGTGTCAGGCCAGGGCGGGGACCCTCCAAGCCCCCAACCATGCCAGGACCTCCAGGGTTCATGGTGGTCCTGAAAAGACGCTGTTAATGATTGTCCCCCATTTTACAGATAGGGAAGGTAGAGATCAGTTGGGTTAAATGCCCAGGGCAACACTGGTGGCCAAACTGACAGACCTGGAGTTGTCCAGGTCTGTCTGACTCCAACACTGGATCCTTCCAAAACTCTTCATCACTGACATGCTTAAGGTTCTCTGAGGGGTCACACAACTCGGGCATAGAGGCTCATTCGGATCCAAGTGACTCTTGCTTAGCACATCGTTATGACAAACACTATGCTTTGCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTCCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTTCAGGTGTGCACCACCATGCCTGACTAACTTTTGTATTTTTTTTTTTTTGAGACGCAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGATCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACGCGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCATCCGTATGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTCCCTCGGCCTCTCAAAGTGCTGGGATTACAGGAGTGAGCCAATACACCCAGGCATGCTTTGCTTTTTATTTTTTTAGCGACAGGGTCTCACTCTGTTGGCCAGGCTGGAGTGCAGTGGCACGATCATAGCTCACTGCAGCCTCGATCTCCTGGGTTCAAGTGATCCTCCCTCATCTCAGCTCCCAAGTAGCTGGGACTACAGGTGTGCACCACCACACCTGGCTGATTTTTAAATATTTTTTTAGAGATGAGGTCTCGCTAGTTTGCTCAGGCCGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTCCTGGGATCACAGGCATGAGCTTCGGTGCCTAGCCTTCTTTATTTTTCATTCTCATTTTGTTTTTCTTTTTTGGCAACTAGAAACAAAAGATTGTGGGTTCTTCCTGTGATGCTCCCAGAGCCTCACACATAGTAGGTGTTTCTGTGGGGGAAGGGCACTGCTTAAAATGAAAGCCCTGACCCTTACTTGAATCATTAAGAGCACCATGTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCGTCAGCCTCCCGAGTAGCTGGGATTACAGGCACACATCACCGTGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGTGGTTTCACCGTGCTGGTCAGGCTGGTTTCGAACTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAACCACCGCGCCCAGCCTGTATTTTTAGTAGAGTCCAAGAATCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAAGTGATCCACTCGCCTCAGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCATTGCGCCTGGCCTAACAGCACCATTTATTGAGCACTTGTTGTGTTCTGAATACTGGGCTAAGACTACCTACATTTTCTCGGCCAATCCTGCT
Task1_train_26941
The gene COMP (cartilage oligomeric matrix protein), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
CCGATGGAGCCGTCTCAGAGGCCGAGGGGCCCTCTGTGTGGGGGTGGGACGCAGGGGCTCTCAGAGCAAGGGCCACAAAGCCGATGGCACAGATGTGCCCCTGGGCCTGGCCCGTCACCCACATGTGGTGCCCTGGGCCAGGGCGTGCGGGCGCCAGAGCCTTCCCTACACAGCCTAAGAGCAGGGGCAAGACTCGGCCCCTCACTCACCCTGGGAGGCCTGCCTGGGCTACATGGACACCTGGGTCTCTTTCTACCCCCATTCACCATGGACCAGGGGCCTCCATTTCCTGGGGGCTCTTGCGGCATGTGATTTGGGGGTCCCTGGGACATTCTCCCGTCAGCTCCACCTGAGCCAAGTGTCCTGTTCCCTGCGGCCCTTGGCCTTCCAGGGTCCTGGCCAGGCAGGGGTCAGGCACCCCATACTCTTCCGTGTGGCACAGGTGTCCACCCACCCCCACTGGCCACAGACACCATTCTCCCCCTGGGAGCAGGAGGTGGAGTAAGTTGTACCCCCAGGCCTGGGTGCTGGGGAGTTCCTGAGGGCATGGGTGGGGCAGGAGTGAGTGCCTCGTGATCCCAGCCTCAGTTTCTCTCTTGTCACTTTCTCAAACCTGCAGGTCTCAGGGCCCCGGGCTCCTCCTGGGCAGGATGGGGGGCAGGGGCTGGGCCTTGGGGTGGTGCTGGCTCTGATGATTCCAGAGCCTGTATCCACCTTCTGGGCTCCTGGCCAGCACCCCACCCCCAGGAGCCAGGGACAGGTGGCATGTGTTGGGGTCGGGGGATGGCCCCCATCTCGAAGTGTTCTGGAATTTGGGGGCAACCCTTGCCCAGCCCAGCCATCAAGAACTTCTGATCTCCTGCCCACCAGGAGGGGACTTAGCCATGGACTTGGCCAGTAGGCCTGGGGAGGGAGGGCTTTGGCAGCCAAAGTCCACTGGCCCTGCCGTGCCCCTGAGTAGGAAACTGTCCCCTAGGGGCTGGGTGGCCCCACTGATATATGCAAACCCGCCGGTCCGAGCCCTGTTCCTGCCTGTGCTCCTCTGTGCCCAGGCTGGCTCTCCCCCAACCCTAGCATGTATACTCTGCCACGGACGTCCCGTGGGCCATGATTGTGGGCGGCCGCAGCGGGCGGGGGCAGGCGGCTCAGGGCACACTCGGCCGTCCCTGCCCCATCCTCTGGCAGGGCTGCTTTTGTCTTTGTACCTTTGCATCCTTTGTAATGAAACGTAATAAAAATCCAACGTTTTCGTCACTGGCTCTTCCTCTTTTTTCTGAGCCCCTCCCTCCTCCCTCAGGGGTGACACATGGGCGTGGCAGGTGCACTGGCAGGTGCCTCAACCCTTCCGAACACACACACACACACACACACACACCCCAGACCAGGCAAGGGAAGGGGTCCCCAAAGCTGGGACAACTGGGAACCTGCCCCCCAGAATCCTGGGGCGGACACTGTATCGGGGTCTCAGCTCTTCCATGGCTGGCATCCAGGCCTGTGACCATGAGGTGGTGGGTCGTGGAGGTGGACCCAGGGGCCTCCCCAAATCCCAAATCACAGTTGGACAGTCCCTGGCAGGCCACTGGCACTCAGCAGCAGCTGCAGCACTGAGGCCTTGGTTTGGGGTTCCCTGGCCCGACCCTCCCTCAGAGGCCCGTCCCTACTGTCTCCATGCAGCAAAAACCACAGCCGCCACTCCCTGCACACACACTTTATTTTGTCCTCTCTGAGCCCTTCTCACTTCCCCCTCAGGACGGCCACCCCTTGGGGCTGGGTGCAGAGCCCCCATCCAGCCGCGGTGAGGGTGGCTGTCATCCGGCGGGTCCTCACCCTGGTCCCTAGGCTTGCCGCAGCTGATGGGTCTCATAGTCCTCTGGGATGGTGTCTGCAGGGAGAGGGCAGGCGGGTGAGGGCTGAGAAGGCCAGCAGGGCCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCCGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGCCTCAGTTTCCTGGTGTGGTGGACATCAAGGGCCCTGGACATAGTTGGTGCTAAACAGAGCACCTGGGCTTGCTAGCAGCATGGAATGGAGGCTGAGAAACAGGGACTGGGTGAGGCCCCATTTCTAGCTGGATACACACTGTGTGCTGTGTCCTGGCCAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTACTGCCACCTTAATTCCCAGACTCAACTGACCTCAGCCTCCCTAGTAGCTGGGACCATGGGCACGTGCCACCATGCCTGGCATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTGTCACCCATGCTGGAGTGCAATGGCACGATCTCCACTCACTGCAACTTCCGCTTCCCGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCC
CCGATGGAGCCGTCTCAGAGGCCGAGGGGCCCTCTGTGTGGGGGTGGGACGCAGGGGCTCTCAGAGCAAGGGCCACAAAGCCGATGGCACAGATGTGCCCCTGGGCCTGGCCCGTCACCCACATGTGGTGCCCTGGGCCAGGGCGTGCGGGCGCCAGAGCCTTCCCTACACAGCCTAAGAGCAGGGGCAAGACTCGGCCCCTCACTCACCCTGGGAGGCCTGCCTGGGCTACATGGACACCTGGGTCTCTTTCTACCCCCATTCACCATGGACCAGGGGCCTCCATTTCCTGGGGGCTCTTGCGGCATGTGATTTGGGGGTCCCTGGGACATTCTCCCGTCAGCTCCACCTGAGCCAAGTGTCCTGTTCCCTGCGGCCCTTGGCCTTCCAGGGTCCTGGCCAGGCAGGGGTCAGGCACCCCATACTCTTCCGTGTGGCACAGGTGTCCACCCACCCCCACTGGCCACAGACACCATTCTCCCCCTGGGAGCAGGAGGTGGAGTAAGTTGTACCCCCAGGCCTGGGTGCTGGGGAGTTCCTGAGGGCATGGGTGGGGCAGGAGTGAGTGCCTCGTGATCCCAGCCTCAGTTTCTCTCTTGTCACTTTCTCAAACCTGCAGGTCTCAGGGCCCCGGGCTCCTCCTGGGCAGGATGGGGGGCAGGGGCTGGGCCTTGGGGTGGTGCTGGCTCTGATGATTCCAGAGCCTGTATCCACCTTCTGGGCTCCTGGCCAGCACCCCACCCCCAGGAGCCAGGGACAGGTGGCATGTGTTGGGGTCGGGGGATGGCCCCCATCTCGAAGTGTTCTGGAATTTGGGGGCAACCCTTGCCCAGCCCAGCCATCAAGAACTTCTGATCTCCTGCCCACCAGGAGGGGACTTAGCCATGGACTTGGCCAGTAGGCCTGGGGAGGGAGGGCTTTGGCAGCCAAAGTCCACTGGCCCTGCCGTGCCCCTGAGTAGGAAACTGTCCCCTAGGGGCTGGGTGGCCCCACTGATATATGCAAACCCGCCGGTCCGAGCCCTGTTCCTGCCTGTGCTCCTCTGTGCCCAGGCTGGCTCTCCCCCAACCCTAGCATGTATACTCTGCCACGGACGTCCCGTGGGCCATGATTGTGGGCGGCCGCAGCGGGCGGGGGCAGGCGGCTCAGGGCACACTCGGCCGTCCCTGCCCCATCCTCTGGCAGGGCTGCTTTTGTCTTTGTACCTTTGCATCCTTTGTAATGAAACGTAATAAAAATCCAACGTTTTCGTCACTGGCTCTTCCTCTTTTTTCTGAGCCCCTCCCTCCTCCCTCAGGGGTGACACATGGGCGTGGCAGGTGCACTGGCAGGTGCCTCAACCCTTCCGAACACACACACACACACACACACACACCCCAGACCAGGCAAGGGAAGGGGTCCCCAAAGCTGGGACAACTGGGAACCTGCCCCCCAGAATCCTGGGGCGGACACTGTATCGGGGTCTCAGCTCTTCCATGGCTGGCATCCAGGCCTGTGACCATGAGGTGGTGGGTCGTGGAGGTGGACCCAGGGGCCTCCCCAAATCCCAAATCACAGTTGGACAGTCCCTGGCAGGCCACTGGCACTCAGCAGCAGCTGCAGCACTGAGGCCTTGGTTTGGGGTTCCCTGGCCCGACCCTCCCTCAGAGGCCCGTCCCTACTGTCTCCATGCAGCAAAAACCACAGCCGCCACTCCCTGCACACACACTTTATTTTGTCCTCTCTGAGCCCTTCTCACTTCCCCCTCAGGACGGCCACCCCTTGGGGCTGGGTGCAGAGCCCCCATCCAGCCGCGGTGAGGGTGGCTGTCATCCGGCGGGTCCTCACCCTGGTCCCTAGGCTTGCCGCAGCTGATGGGTCTCATAGTCCTCTGGGATGGTGTCTGCAGGGAGAGGGCAGGCGGGTGAGGGCTGAGAAGGCCAGCAGGGCCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCGGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGCCTCAGTTTCCTGGTGTGGTGGACATCAAGGGCCCTGGACATAGTTGGTGCTAAACAGAGCACCTGGGCTTGCTAGCAGCATGGAATGGAGGCTGAGAAACAGGGACTGGGTGAGGCCCCATTTCTAGCTGGATACACACTGTGTGCTGTGTCCTGGCCAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTACTGCCACCTTAATTCCCAGACTCAACTGACCTCAGCCTCCCTAGTAGCTGGGACCATGGGCACGTGCCACCATGCCTGGCATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTGTCACCCATGCTGGAGTGCAATGGCACGATCTCCACTCACTGCAACTTCCGCTTCCCGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCC
Task1_train_26942
Consider this mutation in COMP (cartilage oligomeric matrix protein) on Chromosome 19. Is this a benign change or a disease-causing variant?
Pathogenic; not provided
CCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCCGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGCCTCAGTTTCCTGGTGTGGTGGACATCAAGGGCCCTGGACATAGTTGGTGCTAAACAGAGCACCTGGGCTTGCTAGCAGCATGGAATGGAGGCTGAGAAACAGGGACTGGGTGAGGCCCCATTTCTAGCTGGATACACACTGTGTGCTGTGTCCTGGCCAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTACTGCCACCTTAATTCCCAGACTCAACTGACCTCAGCCTCCCTAGTAGCTGGGACCATGGGCACGTGCCACCATGCCTGGCATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTGTCACCCATGCTGGAGTGCAATGGCACGATCTCCACTCACTGCAACTTCCGCTTCCCGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCA
CCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCCGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGCCTCAGTTTCCTGGTGTGGTGGACATCAAGGGCCCTGGACATAGTTGGTGCTAAACAGAGCACCTGGGCTTGCTAGCAGCATGGAATGGAGGCTGAGAAACAGGGACTGGGTGAGGCCCCATTTCTAGCTGGATACACACTGTGTGCTGTGTCCTGGCCAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTACTGCCACCTTAATTCCCAGACTCAACTGACCTCAGCCTCCCTAGTAGCTGGGACCATGGGCACGTGCCACCATGCCTGGCATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTGTCACCCATGCTGGAGTGCAATGGCACGATCTCCACTCACTGCAACTTCCGCTTCCCGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACATGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCA
Task1_train_26943
A variant has been detected on Chromosome 19 in COMP (cartilage oligomeric matrix protein). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
CCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCCGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGCCTCAGTTTCCTGGTGTGGTGGACATCAAGGGCCCTGGACATAGTTGGTGCTAAACAGAGCACCTGGGCTTGCTAGCAGCATGGAATGGAGGCTGAGAAACAGGGACTGGGTGAGGCCCCATTTCTAGCTGGATACACACTGTGTGCTGTGTCCTGGCCAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTACTGCCACCTTAATTCCCAGACTCAACTGACCTCAGCCTCCCTAGTAGCTGGGACCATGGGCACGTGCCACCATGCCTGGCATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTGTCACCCATGCTGGAGTGCAATGGCACGATCTCCACTCACTGCAACTTCCGCTTCCCGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCA
CCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCCGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGCCTCAGTTTCCTGGTGTGGTGGACATCAAGGGCCCTGGACATAGTTGGTGCTAAACAGAGCACCTGGGCTTGCTAGCAGCATGGAATGGAGGCTGAGAAACAGGGACTGGGTGAGGCCCCATTTCTAGCTGGATACACACTGTGTGCTGTGTCCTGGCCAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTACTGCCACCTTAATTCCCAGACTCAACTGACCTCAGCCTCCCTAGTAGCTGGGACCATGGGCACGTGCCACCATGCCTGGCATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTGTCACCCATGCTGGAGTGCAATGGCACGATCTCCACTCACTGCAACTTCCGCTTCCCGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACCTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCA
Task1_train_26944
This variant impacts the gene COMP (cartilage oligomeric matrix protein) on Chromosome 19. Is the change likely to result in a pathogenic outcome?
Pathogenic; Carpal tunnel syndrome 2
CCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCCGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGCCTCAGTTTCCTGGTGTGGTGGACATCAAGGGCCCTGGACATAGTTGGTGCTAAACAGAGCACCTGGGCTTGCTAGCAGCATGGAATGGAGGCTGAGAAACAGGGACTGGGTGAGGCCCCATTTCTAGCTGGATACACACTGTGTGCTGTGTCCTGGCCAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTACTGCCACCTTAATTCCCAGACTCAACTGACCTCAGCCTCCCTAGTAGCTGGGACCATGGGCACGTGCCACCATGCCTGGCATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTGTCACCCATGCTGGAGTGCAATGGCACGATCTCCACTCACTGCAACTTCCGCTTCCCGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCA
CCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCCGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGCCTCAGTTTCCTGGTGTGGTGGACATCAAGGGCCCTGGACATAGTTGGTGCTAAACAGAGCACCTGGGCTTGCTAGCAGCATGGAATGGAGGCTGAGAAACAGGGACTGGGTGAGGCCCCATTTCTAGCTGGATACACACTGTGTGCTGTGTCCTGGCCAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTACTGCCACCTTAATTCCCAGACTCAACTGACCTCAGCCTCCCTAGTAGCTGGGACCATGGGCACGTGCCACCATGCCTGGCATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTGTCACCCATGCTGGAGTGCAATGGCACGATCTCCACTCACTGCAACTTCCGCTTCCCGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACCTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCA
Task1_train_26945
A change on Chromosome 19 affects gene COMP (cartilage oligomeric matrix protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Multiple epiphyseal dysplasia type 1
CCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCCGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGCCTCAGTTTCCTGGTGTGGTGGACATCAAGGGCCCTGGACATAGTTGGTGCTAAACAGAGCACCTGGGCTTGCTAGCAGCATGGAATGGAGGCTGAGAAACAGGGACTGGGTGAGGCCCCATTTCTAGCTGGATACACACTGTGTGCTGTGTCCTGGCCAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTACTGCCACCTTAATTCCCAGACTCAACTGACCTCAGCCTCCCTAGTAGCTGGGACCATGGGCACGTGCCACCATGCCTGGCATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTGTCACCCATGCTGGAGTGCAATGGCACGATCTCCACTCACTGCAACTTCCGCTTCCCGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCA
CCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCCGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGCCTCAGTTTCCTGGTGTGGTGGACATCAAGGGCCCTGGACATAGTTGGTGCTAAACAGAGCACCTGGGCTTGCTAGCAGCATGGAATGGAGGCTGAGAAACAGGGACTGGGTGAGGCCCCATTTCTAGCTGGATACACACTGTGTGCTGTGTCCTGGCCAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTACTGCCACCTTAATTCCCAGACTCAACTGACCTCAGCCTCCCTAGTAGCTGGGACCATGGGCACGTGCCACCATGCCTGGCATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTGTCACCCATGCTGGAGTGCAATGGCACGATCTCCACTCACTGCAACTTCCGCTTCCCGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACCTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCA
Task1_train_26946
This alteration occurs within gene COMP (cartilage oligomeric matrix protein) located on Chromosome 19. Is it associated with a disease or is it a benign variant?
Pathogenic; not provided
GCCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCT
GCCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGCCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCT
Task1_train_26947
This alteration in COMP (cartilage oligomeric matrix protein) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
CCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTC
CCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTGGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTC
Task1_train_26948
Given this context: Chromosome 19, gene COMP (cartilage oligomeric matrix protein) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; not provided
GACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTT
GACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTCTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTT
Task1_train_26949
The following genetic variant occurs in COMP (cartilage oligomeric matrix protein) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; not provided
CACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTT
CACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCTTCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTT
Task1_train_26950
A variant on Chromosome 19 in gene COMP (cartilage oligomeric matrix protein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; not provided
ACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTT
ACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCAACAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTT
Task1_train_26951
The gene COMP (cartilage oligomeric matrix protein) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; not provided
CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTT
CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGCCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTT
Task1_train_26952
The variant affects gene COMP (cartilage oligomeric matrix protein), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; not provided
GTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTT
GTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGTACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTT
Task1_train_26953
This gene mutation involves COMP (cartilage oligomeric matrix protein) on Chromosome 19. Is it associated with any clinical condition, or is it benign?
Pathogenic; not provided
TCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAG
TCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGTTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAG
Task1_train_26954
Mutation context: Chromosome 19, Gene COMP (cartilage oligomeric matrix protein). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; not provided
GATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTA
GATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTTATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTA
Task1_train_26955
This variant lies on Chromosome 19 and affects the gene COMP (cartilage oligomeric matrix protein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
TCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTT
TCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGCCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTT
Task1_train_26956
This variant affects the gene COMP (cartilage oligomeric matrix protein) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
ATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTA
ATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTAGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTA
Task1_train_26957
A mutation on Chromosome 19 affecting COMP (cartilage oligomeric matrix protein) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; not provided
ATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTA
ATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTGGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTA
Task1_train_26958
A variant affecting Chromosome 19, within the gene COMP (cartilage oligomeric matrix protein), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Abnormality of the skeletal system
CCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTT
CCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGAAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTT
Task1_train_26959
The gene COMP (cartilage oligomeric matrix protein) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Epiphyseal dysplasia, multiple, 1, severe
CATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATC
CATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGCTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATC
Task1_train_26960
This variant affects gene COMP (cartilage oligomeric matrix protein) located on Chromosome 19. Evaluate its biological effect and specify any disease association.
Pathogenic; not provided
ACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAG
ACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTTCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAG
Task1_train_26961
Mutation context: Chromosome 19, Gene COMP (cartilage oligomeric matrix protein). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; not provided
CAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGT
CAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCTGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGT
Task1_train_26962
This mutation is located in gene COMP (cartilage oligomeric matrix protein) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
GGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCG
GGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATGCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCG
Task1_train_26963
This alteration occurs within gene COMP (cartilage oligomeric matrix protein) located on Chromosome 19. Is it associated with a disease or is it a benign variant?
Pathogenic; not provided
TGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCA
TGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTTCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCA
Task1_train_26964
Gene COMP (cartilage oligomeric matrix protein), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; not provided
GGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGC
GGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGATAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGC
Task1_train_26965
Chromosome 19 houses a mutation in gene COMP (cartilage oligomeric matrix protein). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Multiple epiphyseal dysplasia type 1
GTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTG
GTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTAGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTG
Task1_train_26966
Located on Chromosome 19, this mutation impacts COMP (cartilage oligomeric matrix protein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; not provided
CCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCC
CCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTTGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCC
Task1_train_26967
A variant found in Chromosome 19 affects COMP (cartilage oligomeric matrix protein). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; not provided
CCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCA
CCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTGGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCA
Task1_train_26968
The gene COMP (cartilage oligomeric matrix protein), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
TGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTG
TGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGTAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTG
Task1_train_26969
A variant on Chromosome 19 in gene COMP (cartilage oligomeric matrix protein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
ACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGT
ACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTGGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGT
Task1_train_26970
This is a variant in COMP (cartilage oligomeric matrix protein), located on Chromosome 19. Is this mutation a likely cause of disease or not?
Pathogenic; not provided
ACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGT
ACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTTGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGT
Task1_train_26971
Gene COMP (cartilage oligomeric matrix protein), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; not provided
ATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGT
ATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCGCGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGT
Task1_train_26972
A variant was discovered on Chromosome 19, affecting COMP (cartilage oligomeric matrix protein). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Epiphyseal dysplasia, multiple, 1, severe
GGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCT
GGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTACTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCT
Task1_train_26973
Here is a mutation in COMP (cartilage oligomeric matrix protein) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
GGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGA
GGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCGGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGA
Task1_train_26974
The gene COMP (cartilage oligomeric matrix protein) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; not provided
GCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCT
GCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTTGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCT
Task1_train_26975
This mutation occurs in COMP (cartilage oligomeric matrix protein) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
CGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCTCTGACCGCGGGGTCTCCCCGGTCT
CGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCTGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCTCTGACCGCGGGGTCTCCCCGGTCT
Task1_train_26976
A change on Chromosome 19 affects gene COMP (cartilage oligomeric matrix protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; not provided
CTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCTCTGACCGCGGGGTCTCCCCGGTCTCTTCTCTGAGTCTCTGTCCC
CTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACAACCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCTCTGACCGCGGGGTCTCCCCGGTCTCTTCTCTGAGTCTCTGTCCC
Task1_train_26977
A genomic change on Chromosome 19 affects COMP (cartilage oligomeric matrix protein). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
TTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCTCTGACCGCGGGGTCTCCCCGGTCTCTTCTCTGAGTCTCTGTCCCGCTTTTCTGC
TTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCTTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCTCTGACCGCGGGGTCTCCCCGGTCTCTTCTCTGAGTCTCTGTCCCGCTTTTCTGC
Task1_train_26978
This genomic variant is located on Chromosome 19, within the COMP (cartilage oligomeric matrix protein) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Multiple epiphyseal dysplasia type 1
GTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCTCTGACCGCGGGGTCTCCCCGGTCTCTTCTCTGAGTCTCTGTCCCGCTTTTCTGCCCCGTGGCG
GTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGACACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCTCTGACCGCGGGGTCTCCCCGGTCTCTTCTCTGAGTCTCTGTCCCGCTTTTCTGCCCCGTGGCG
Task1_train_26979
Given this context: Chromosome 19, gene COMP (cartilage oligomeric matrix protein) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; not provided
CTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCTCTGACCGCGGGGTCTCCCCGGTCTCTTCTCTGAGTCTCTGTCCCGCTTTTCTGCCCCGTGGCGTCTCTCACTTC
CTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGAAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCTCTGACCGCGGGGTCTCCCCGGTCTCTTCTCTGAGTCTCTGTCCCGCTTTTCTGCCCCGTGGCGTCTCTCACTTC
Task1_train_26980
This is a variant in COMP (cartilage oligomeric matrix protein), located on Chromosome 19. Is this mutation a likely cause of disease or not?
Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
AAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCTCTGACCGCGGGGTCTCCCCGGTCTCTTCTCTGAGTCTCTGTCCCGCTTTTCTGCCCCGTGGCGTCTCTCACTTCCCCAAAA
AAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTACTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCTCTGACCGCGGGGTCTCCCCGGTCTCTTCTCTGAGTCTCTGTCCCGCTTTTCTGCCCCGTGGCGTCTCTCACTTCCCCAAAA
Task1_train_26981
A variant affecting Chromosome 19, within the gene COMP (cartilage oligomeric matrix protein), has been observed. Determine if it's benign or associated with disease.
Pathogenic; not provided
GGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCTCTGACCGCGGGGTCTCCCCGGTCTCTTCTCTGAGTCTCTGTCCCGCTTTTCTGCCCCGTGGCGTCTCTCACTTCCCCAAAACTCTCTCACCGCTTCTGTCTCTTTTTGTCTCTGTTTCTACACACCCCATCCCATTCCCGTTCGTCCGTCCACCTCTCCGTCAGCCTCCATCTCCTTCCGTCTCTTTTCCTCCCCAGCTTTCCCTGGCTCTCTGTCTCTGTCTCTGTGTCTCT
GGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGCCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCTCTGACCGCGGGGTCTCCCCGGTCTCTTCTCTGAGTCTCTGTCCCGCTTTTCTGCCCCGTGGCGTCTCTCACTTCCCCAAAACTCTCTCACCGCTTCTGTCTCTTTTTGTCTCTGTTTCTACACACCCCATCCCATTCCCGTTCGTCCGTCCACCTCTCCGTCAGCCTCCATCTCCTTCCGTCTCTTTTCCTCCCCAGCTTTCCCTGGCTCTCTGTCTCTGTCTCTGTGTCTCT
Task1_train_26982
Consider a variant on Chromosome 19 in gene COMP (cartilage oligomeric matrix protein). Determine its clinical classification and disease relevance.
Pathogenic; Carpal tunnel syndrome 2
GGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCTCTGACCGCGGGGTCTCCCCGGTCTCTTCTCTGAGTCTCTGTCCCGCTTTTCTGCCCCGTGGCGTCTCTCACTTCCCCAAAACTCTCTCACCGCTTCTGTCTCTTTTTGTCTCTGTTTCTACACACCCCATCCCATTCCCGTTCGTCCGTCCACCTCTCCGTCAGCCTCCATCTCCTTCCGTCTCTTTTCCTCCCCAGCTTTCCCTGGCTCTCTGTCTCTGTCTCTGTGTCTCTGTCTCCCGTCTCTTCTCTCTCCCGACCGCCCCGCCGCGCTCACCGCACGCGTCACACTCCATCACCGTGTTTTTCAGGAACGTGATCTCCCTGACCTGCAGGGGTGGGATGGAATCAGCGGGGTCCCAACCTCTCCTCATCCCTCGGGTCTCCCCTCTCTCTACCCCGGGGTCCCTTTCTACAGCCTCTTTTCGCCAAGGACTCCCTACCCGCCGACCCCCTTCCCTCCCCATCTCCTCTCCACCTTCTCGGGTACTTCCTCTCTCCTCGCTGGGAACTGAGACCCCCTTCCGTTCCCTGGCACTCCCTGCCCCGCACCCGGGCCCCGCACCTGCTGCCGCAGCAGCTCCCGCACGTCCTGCAGCGCCGCGTTGGTTTCCTGCAGTTCCCGAAGCATCTGCGGGCCCAGGTCTGAGCCTGCGGCGGCAGGGGACCTGGTGAGGCGTCATGGGGCCGGGGAATCCCACCACCAACTCCCACCGTTGCAGCGAACCCGGACCTCCGAGGCCCCACTGCGCTCCTCTAGTCTCGGTCCCGCCACCTGCTTTCTGCGCCCGGCACGTCCCCTACGAACAGTCCGTGAGCCCCAAACAGCCTGGATCCCGGGCCTCTCACGGGTCCTACAGTCCGTTGTGGGGCCGTGGGCACGGCGCGGGTGCTAACGCGGCTTACCCAACGGGCTCTGGCCCTGTCCGGACGCGCCGAGGGCAGCCAGGGTGAGCAGAAGAACGCAGGCGGTGTCGGGGACCATGGCGGTGGCGGGGAGCTGGGTGGCTGCTCGCTTTCTACCGCCCACGAGGCCCGCGGGGCCTATTTATCCCCAAGGCACGGCCGGCCCCAGGGACGGCCCACCACAGCCCTGCCCAACGTCCAGCCTCAAGGTAAACAGATGGCGCTGGCCCCTGCGTTCAAGTCCCCGCCCGGAATGCCCCGCGAAGTCGCCCGCGGCTGAATCCGACATGGTGGGGAAACTGAGTCCCGGGGTCTGTGGAGAGAGCTGGTGGGGCAGGGAGTCAGGGGGTACTGCCCCCACTTTCATTCACTGTGTGTGTGCGTCTGTGTGTGTGTGTGTGTGTGTGTGTGACGGGGTGTGGCTGTATCGCATCCTCTTGCTTCAGTCTCCCATGTAGCTGGGACTACAAGCCCGCACCACCAAGTCCAGCTAATTTATTTTTATTTTTATTTTTATTTTTAGAGACCGGGTCTGGCTATGTCCTGCAGGCTAGTAGTCTCAAACTCCCGGCCTCAAGCGATACTCCCCACATAACTGGGATTACAGGATCCAGCCATAGCATTCAGCTCATTGATTGATTGATTGATTGAGTGCTTGCTGTATGCCAAACCTGAGTTCCAGTTCCAAACAAGGCAGGCTCCATGGCCACGCTCTCAGCTCACACTTCGGGAAACAGAGTCACCAGCGTCTGAAAAAATAGGTCCACCCACTATGGATCAGACTGACTGGCCCTCCACTCCTCCTGAAGTGCTTCAAAACTGGGTAAGTTGCTGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTACCCAGGCGTAATTCCTCCCTTGCACAATGGAGGTAATAAGTTAATAATTATTAATTAATGATTAATAGTAATGATGATTATGATGATGAATGGAAAATAGGGGAGGGGCAGTTGAGACCTGGGACTCTCAATTTTCCTGCCTCTGTCCAAGGAGGCCGCTTCTGGCCCCAACGCTGGAGGGCTGCAAATGACTCCCCCCAACCCAACTCATTGCTGGTGTTCCCTCCCCTCCCCATGGTCCCTCGGCTGGTGGAGGAGGGGACAGCGTTCAGGATCTTGCCCCAACCCCTGTCCAAGGGGACAGGCCCACTTGGTTTTCCAATCTGCGCAATGGGGTGTGAGGCCCCCATCTGGAGGGGAGCAAGTTAAAGGGCTCTAGCAAGGGGAGGTCCGGGGCTTCTGTTTGTCCAGGCTGTGCCATACCTTCCAAACTGTGCTCCAGCTGCTGTGGGAACAGCCTGTAATAAAAATAAA
GGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGGGGGGCAGGGGTCGTCGGGGCGTGCGTGCCCGGCGGTGGCGGGGGGTCTGGGCGTGCGTTCCCTGGCTGTGGAAGGGTCGTTGGGACTGGCGATCCCCTGCGGCGAGGAGGGTAGCTGGGGCGGACCACCCCTGGCGGTGAGGGAGTCGTCGGGGCGGGCGTCACTAGCTATGTAGGGGGTTGTGGGGGCGGGCGTCCCGGGTGGTGACGGGGATGGTCCTTGGGTTGGGCGTCCCCCCGCGGTAAGGAGGTAGTCTGGCCGTGCGCCCCCGGAGGTGAGAGGCTCTTCGGGGCGAACACTCCCAGTGGAGGAAGGGGTCTCCCGGGCGGCGAGAGATTGGGGGGCGGTAGAGGGAGTCGTCAGGGCGGTGGAGTGTCGGGGCTAGCGCACCTCGTTGACGTCGGTGCAGTGCGAGCCGTTGCCCGTGAAGCCCGCGGGGCAGGGGCCGCAGCGCGCGCCGCTCTCCGTCTGGATGCAGGCCACGCCGGGGAAGCAGAAGCCGGGCGCGCAGTGGAGCAGGGGCCGCACGCTGGGTAGGCCGGTGCGTACTGACTGCTGCATCCCTGCGGGGGGGAGGGGGGAGAAGCGGCGGGGCTGATCGGTGGCTCGCCCGGGGGCAGAGCCTATCATGGCCACGCCCCGGGGCTGGAGGCTTCCCCTTCCCCCCCACCCCCCGCCCCGGGGCGGCCCGAAATCCTGCGCTGTCCGCGATCCCGCCCCAGAGGCTGCGCGCTCTGACCGCGGGGTCTCCCCGGTCTCTTCTCTGAGTCTCTGTCCCGCTTTTCTGCCCCGTGGCGTCTCTCACTTCCCCAAAACTCTCTCACCGCTTCTGTCTCTTTTTGTCTCTGTTTCTACACACCCCATCCCATTCCCGTTCGTCCGTCCACCTCTCCGTCAGCCTCCATCTCCTTCCGTCTCTTTTCCTCCCCAGCTTTCCCTGGCTCTCTGTCTCTGTCTCTGTGTCTCTGTCTCCCGTCTCTTCTCTCTCCCGACCGCCCCGCCGCGCTCACCGCACGCGTCACACTCCATCTCCGTGTTTTTCAGGAACGTGATCTCCCTGACCTGCAGGGGTGGGATGGAATCAGCGGGGTCCCAACCTCTCCTCATCCCTCGGGTCTCCCCTCTCTCTACCCCGGGGTCCCTTTCTACAGCCTCTTTTCGCCAAGGACTCCCTACCCGCCGACCCCCTTCCCTCCCCATCTCCTCTCCACCTTCTCGGGTACTTCCTCTCTCCTCGCTGGGAACTGAGACCCCCTTCCGTTCCCTGGCACTCCCTGCCCCGCACCCGGGCCCCGCACCTGCTGCCGCAGCAGCTCCCGCACGTCCTGCAGCGCCGCGTTGGTTTCCTGCAGTTCCCGAAGCATCTGCGGGCCCAGGTCTGAGCCTGCGGCGGCAGGGGACCTGGTGAGGCGTCATGGGGCCGGGGAATCCCACCACCAACTCCCACCGTTGCAGCGAACCCGGACCTCCGAGGCCCCACTGCGCTCCTCTAGTCTCGGTCCCGCCACCTGCTTTCTGCGCCCGGCACGTCCCCTACGAACAGTCCGTGAGCCCCAAACAGCCTGGATCCCGGGCCTCTCACGGGTCCTACAGTCCGTTGTGGGGCCGTGGGCACGGCGCGGGTGCTAACGCGGCTTACCCAACGGGCTCTGGCCCTGTCCGGACGCGCCGAGGGCAGCCAGGGTGAGCAGAAGAACGCAGGCGGTGTCGGGGACCATGGCGGTGGCGGGGAGCTGGGTGGCTGCTCGCTTTCTACCGCCCACGAGGCCCGCGGGGCCTATTTATCCCCAAGGCACGGCCGGCCCCAGGGACGGCCCACCACAGCCCTGCCCAACGTCCAGCCTCAAGGTAAACAGATGGCGCTGGCCCCTGCGTTCAAGTCCCCGCCCGGAATGCCCCGCGAAGTCGCCCGCGGCTGAATCCGACATGGTGGGGAAACTGAGTCCCGGGGTCTGTGGAGAGAGCTGGTGGGGCAGGGAGTCAGGGGGTACTGCCCCCACTTTCATTCACTGTGTGTGTGCGTCTGTGTGTGTGTGTGTGTGTGTGTGTGACGGGGTGTGGCTGTATCGCATCCTCTTGCTTCAGTCTCCCATGTAGCTGGGACTACAAGCCCGCACCACCAAGTCCAGCTAATTTATTTTTATTTTTATTTTTATTTTTAGAGACCGGGTCTGGCTATGTCCTGCAGGCTAGTAGTCTCAAACTCCCGGCCTCAAGCGATACTCCCCACATAACTGGGATTACAGGATCCAGCCATAGCATTCAGCTCATTGATTGATTGATTGATTGAGTGCTTGCTGTATGCCAAACCTGAGTTCCAGTTCCAAACAAGGCAGGCTCCATGGCCACGCTCTCAGCTCACACTTCGGGAAACAGAGTCACCAGCGTCTGAAAAAATAGGTCCACCCACTATGGATCAGACTGACTGGCCCTCCACTCCTCCTGAAGTGCTTCAAAACTGGGTAAGTTGCTGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTACCCAGGCGTAATTCCTCCCTTGCACAATGGAGGTAATAAGTTAATAATTATTAATTAATGATTAATAGTAATGATGATTATGATGATGAATGGAAAATAGGGGAGGGGCAGTTGAGACCTGGGACTCTCAATTTTCCTGCCTCTGTCCAAGGAGGCCGCTTCTGGCCCCAACGCTGGAGGGCTGCAAATGACTCCCCCCAACCCAACTCATTGCTGGTGTTCCCTCCCCTCCCCATGGTCCCTCGGCTGGTGGAGGAGGGGACAGCGTTCAGGATCTTGCCCCAACCCCTGTCCAAGGGGACAGGCCCACTTGGTTTTCCAATCTGCGCAATGGGGTGTGAGGCCCCCATCTGGAGGGGAGCAAGTTAAAGGGCTCTAGCAAGGGGAGGTCCGGGGCTTCTGTTTGTCCAGGCTGTGCCATACCTTCCAAACTGTGCTCCAGCTGCTGTGGGAACAGCCTGTAATAAAAATAAA
Task1_train_26983
The gene CERS1, GDF1 (ceramide synthase 1| growth differentiation factor 1), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; GDF1-related disorder
TTGAAAGGGGACTACGTCTTAGCAGGAAAAAAAACTTCGCATTTCTGTGCCCGAGCAGGCTCCTTGCAAAGACAGCAGCGTGCGGGGCAGAGCCCCGGGAGGGCGCGTCTGTCCACGCCTACCGGACGCGCCGAGGTCGCGCTGCCTGTGTTCTCCGAGGGCCTTCATTTAAAGAAAATAAGGGTGTTTTGGGTTTTTCTCTTTGTTTTTTTCAAGATTCTTTTAAAGGAGTACTGAAGAATACTTTCCTAAGTTTGTCTGTAAAATCTTAGCGGTGGACCTGGGAGATTTGAGAAGCTTCCAGAAACAGTTTAAACAAGCCAGCGCTACTGGAGAAGAGGAGCAACACCTGTGCCGCGGCCGGAGGAGTTTTGTTGTTGGTTTTAGCTTCCAGTGGCTTCTTTCTGCGGGGCATCAGGCTGCTGGGGTAGCCGCCCGCCGAGCCTGGAAGCTGCTCGTTCTCCGCTGGACTCAGAAGCCAAGCTGCTTCCCGCCTAGACTCGGCGCAGGGCCCCGCACCGGTGAGGAAGGTGCTTTTGGCCCCATTGCGAGGGGCCTTGGCCAGGACTGGCCCTGTGGCCAGGAGGCGAGAAGGTGGCTGTTCCCGGATTGACGGCTTTTTCCCGGGGGCCTTTGGAAGATTTGGTGGAAGGACAAGAGGGCCTGTCCCTGTCCCCGTCCCCAGGAGGTACCGACAGTCCCTGTGCTGGTTAGACACGGAGCGCTGCACACCGAAAGCCCAAATTGGGAGCTCTGCCTGCCGGCAACTTTGCTGATGGGGTGATTGCTGCTTCTGGGGGGTAAGGAAACAAGTTACAGAAATTACCGCGTTCTGTGTGAAGGGACTGAGGGTGTGGTGTCATTGGCAGAGGGTCATTTTAGGAGAGCTGCCCCAGCCCCTCGAACGCCTGGCTTGGGGTGTCATTCTGCCTGGCGGCCAGGCCTCCAGCTTCCCCTGCCCCGGGCCTGGGGCTGTCACTGGCCCTGATCCGAACACCTCCAGATTCCGGCTTCTACATGGGACAGACGGGGACGCACAGGCCACCTTCCTTCTGGCAGGGACTCTTATTTATTCCCATTGCTCTAGGGCTTTCGGTTTCCCCTTCTTCCGGTAGGCCGCGTAGAGGCATGCACCGGGTAGGTTTCCGCGGTGACCCCGCGGCGGCCTGAGGGACGCTCCCTGCCCCATCCCGGCTGTTGGGCTGGGCCGCTTTGCCTCTGCTTCGCCCTGTGCTGTGTTCTCCAGCTTTGTAGCAGCAGCCTTGACAAACCCAGGCGCACTGTACCAAGGCAATGTAACTTTTGATTTTCGGTCAATTTAAGTTCTTTTGTCACCAAATATTAATAAACAGTTTTGACTTCACACCAAGGTTGGATAAACTGCAGGGGGTGGAGGGTGCTGGGGTTTTGCCTTGGCTGAGTGACGGGTTGGGGTGTGAAGGAGGCCAGAGGGAGACAGGCAAAGCCCAGAAGGGACAGGTCTGCCTTGCAGGACTGAAGGGCGACCCCTGCCCCTGGGCCCTTCCCGTAGGCAGCACCTGGGCCTGTCCGGGCGGCTCCCCGGAGTGGCGCGTTAGGCCTCTGGCAGGTGGCCTGGAGGTGGAAAGGCCTATCCGATCACCAAGACTGAGGGGCGCCCTCCCCACCACCCAGGCAAGGAGTCCAAGGAGACCAGCGGAGCAGACCACGCGGCATTTATTGTTGGGCCCGCGTCCCTGCCCGCCCCGGGTTAGCGGCAGCCGCACTCGTCCACCACCATGTCCTCATACTGCCGCAGCACCACGTTGTCGCTGTTGTCAAAGAAGAGCACGGAGATGGGCGACAGGCGCGCGGGCACGCAGCAGGGCAGGTCGGCGGCTCCCGGGGCGGCCGCGTGCATGAGCGCGCGCAGCACAGCGTGGTTGAGCGCCGGCGGCCCCCCGGACCCCGACAGCGCGACGGGCAGCGCGCACTGACCCTGGCAGTAGTTGGCCAGGAAGCCGCGCGGCGCGATGACCCAGCGGTGCCAGCCCACCTCGCGGAAGCTCACGTACAGCCGCCGCGCGCGACAAGCGCCCCCGGGGCCGCCGCCCAACACGGGTTCGGCGTCGCGCCGCGGCCGGGCCAGGGGGTGGCACAGGCGCGGGTCGAGGGTCACCAGCAGCAGCGAGGCCTCGGCCAGGCGCGCGCAGGCGGCAGGGGCCCGGGGGCGTAGCGCCAGCGCCAGGCGGAGGCTGCGCGGCCATGAGGCGTTGCGAGCCCAAGCGGCGCCCAGCAGCTCCGCGCGCACTGGCGGCCCCAGGGCGGGCACCAACTGGCGGAGCAGCACCGGCCCGGGGTCCGCGCCCGCGCCCTGGCCCGCTTGCGCCACGCTCAGCTCCCAGCCGCCCTCCGGGGCTGCCGCCGCCGCCGCCGCGAAACGCAGCTCCAGGCGGGCCCGGCTCGGGCGCTCAGCGGGTTCCACAGCCGACAGGTCGAAGACGACTGTCCACTCAGGGCAATGCCCCGCGGCCGAGGCAGGCTCCGAGGCCCGGGTGGGCGCACCTGGGGAGGTAGGAACAGGAACTCGGCTCGCGCTGCGTCCCCGGCCTGCCCATGGGGTCTCGGTTAGGGACAGGGAGGAAGGTGAACGCTGGGGCTCGGGGCGCACCGTCTGTGGGAAGGGTGTGAAGCGGCGGGGTGGGCTGATGGAGTGGGGGCAGGGCATGAGTTCCAAGGAAGGCGCCCTGCGGGGTGCGGCGGGGGGGGTGGGCTGCCCTCGGCGGGGGGCATAGGAGGAGGGGTGGCCGAAGTGGGAGACATGAGCCAGAACCTGGGCCCCTGGGGAAGCCATGCTAGGGTGTGGGGATGGCATCTGCAGGAAGGCATTAGTGTCAAGAGGTGGGGGTGGGCATGGGGTGGGGACAGGGCTTCAGCATCAAGCAGAAGGACTGGTCTTGGGAACCCCCTGACATGTGTCCCCGGCGTGCAGCAGATGACGAGGAAAGGGTGAGGTGCGGTGGCCGAAGTTGCTAGTAGCCTGGACAGGGCGGGTGGGGACCCTCGGAGCTGCTCGGGCATCCCCGGGCCACTCTCGAGGCTCGCCCTGCGAGGTCTGGCCTCCAGGACCAGTGTCCCCAGCGAAAGCCCCACTCACCGCGGTCCGGGATGTGGCGCACGATGTTTCCGGCGACCCCCAGCTCCTCCACGTGGCACGGTTGCAGGGTGACCCCTGGGGACGTCCGCCGCGAGCCAGACCTGGTCTCCTGGGGGTCCCGGCGTCGAAACAGGCGCCACATGACCGGGGGAACCGGCCGGAGCCTGGGGGCACCCTGGGGCTCATCGCGCAGTCCTAGAGCCTGGAGCAGGGCGGCGGCTGGGCCTGGGGGCACGGGGGCGCGGGTCAGGGGCAGCGAGGGCAGCAGCAGGGCCAGGAGGAGGAGGAGGTGGTGGCCGCAGGGACCTTGCTGCGGCGGTGGCATCTTCCTCCCAGGCGATGACCAGAGAGTGCGCAGGGTCCGCGGCGGCCCGGGACCAGTGGGCTGAGGGCGGGGCCGGTGTCCCCGGAGGGGCAGGGGTCCTGGGGGGCGTGGCCGGGAACTGGAGGCAGGATGAGGGGGCGGGGTCCCAGGGGAGGTGGCGGCGGCCCTAGAGGAGCAGAGTTGGAGGGGGTGGAGGGGCGGCCAAGGACGGGGAGCGTGGCCGGGGTATTCGGGGTGGGGCCGGGTCCACGGGGGCGGGGCCGAGGGGTTCAGAAGCGCTTGTCCTTCACCAGGCCGTTCCTCAGTGGCTTCCTGGGGGTCAGAACCGGCGCAGGTTAGCCTGGGAGCCCCACGCGGCCGCCTGGCCCTCTTTCCCGCTTCTTCTCTGGCCGTTTCACACCCCCTGGCTCCTTTTACCCGGCCAGGCCCGGGCCTCGCCTTGTGGCTTCCTCCTCGCCTTCACCCTGCCCCTCCTTGCCTTCACCCTGCCCCTCCTTCAACCTGCCCCGTAGGCACGTATGTCCCCCCTGGCACCCTGGCACTTCCTCCTTGCTTCCCCCTCTCCAATTAAACCTTCCTCTTCCCCTCCTCCCTGCCTCTCCAGGCCGCTGGAGGGCAAAACCCACGTACCGGCCTGGGCCTGACAACTCCACCGC
TTGAAAGGGGACTACGTCTTAGCAGGAAAAAAAACTTCGCATTTCTGTGCCCGAGCAGGCTCCTTGCAAAGACAGCAGCGTGCGGGGCAGAGCCCCGGGAGGGCGCGTCTGTCCACGCCTACCGGACGCGCCGAGGTCGCGCTGCCTGTGTTCTCCGAGGGCCTTCATTTAAAGAAAATAAGGGTGTTTTGGGTTTTTCTCTTTGTTTTTTTCAAGATTCTTTTAAAGGAGTACTGAAGAATACTTTCCTAAGTTTGTCTGTAAAATCTTAGCGGTGGACCTGGGAGATTTGAGAAGCTTCCAGAAACAGTTTAAACAAGCCAGCGCTACTGGAGAAGAGGAGCAACACCTGTGCCGCGGCCGGAGGAGTTTTGTTGTTGGTTTTAGCTTCCAGTGGCTTCTTTCTGCGGGGCATCAGGCTGCTGGGGTAGCCGCCCGCCGAGCCTGGAAGCTGCTCGTTCTCCGCTGGACTCAGAAGCCAAGCTGCTTCCCGCCTAGACTCGGCGCAGGGCCCCGCACCGGTGAGGAAGGTGCTTTTGGCCCCATTGCGAGGGGCCTTGGCCAGGACTGGCCCTGTGGCCAGGAGGCGAGAAGGTGGCTGTTCCCGGATTGACGGCTTTTTCCCGGGGGCCTTTGGAAGATTTGGTGGAAGGACAAGAGGGCCTGTCCCTGTCCCCGTCCCCAGGAGGTACCGACAGTCCCTGTGCTGGTTAGACACGGAGCGCTGCACACCGAAAGCCCAAATTGGGAGCTCTGCCTGCCGGCAACTTTGCTGATGGGGTGATTGCTGCTTCTGGGGGGTAAGGAAACAAGTTACAGAAATTACCGCGTTCTGTGTGAAGGGACTGAGGGTGTGGTGTCATTGGCAGAGGGTCATTTTAGGAGAGCTGCCCCAGCCCCTCGAACGCCTGGCTTGGGGTGTCATTCTGCCTGGCGGCCAGGCCTCCAGCTTCCCCTGCCCCGGGCCTGGGGCTGTCACTGGCCCTGATCCGAACACCTCCAGATTCCGGCTTCTACATGGGACAGACGGGGACGCACAGGCCACCTTCCTTCTGGCAGGGACTCTTATTTATTCCCATTGCTCTAGGGCTTTCGGTTTCCCCTTCTTCCGGTAGGCCGCGTAGAGGCATGCACCGGGTAGGTTTCCGCGGTGACCCCGCGGCGGCCTGAGGGACGCTCCCTGCCCCATCCCGGCTGTTGGGCTGGGCCGCTTTGCCTCTGCTTCGCCCTGTGCTGTGTTCTCCAGCTTTGTAGCAGCAGCCTTGACAAACCCAGGCGCACTGTACCAAGGCAATGTAACTTTTGATTTTCGGTCAATTTAAGTTCTTTTGTCACCAAATATTAATAAACAGTTTTGACTTCACACCAAGGTTGGATAAACTGCAGGGGGTGGAGGGTGCTGGGGTTTTGCCTTGGCTGAGTGACGGGTTGGGGTGTGAAGGAGGCCAGAGGGAGACAGGCAAAGCCCAGAAGGGACAGGTCTGCCTTGCAGGACTGAAGGGCGACCCCTGCCCCTGGGCCCTTCCCGTAGGCAGCACCTGGGCCTGTCCGGGCGGCTCCCCGGAGTGGCGCGTTAGGCCTCTGGCAGGTGGCCTGGAGGTGGAAAGGCCTATCCGATCACCAAGACTGAGGGGCGCCCTCCCCACCACCCAGGCAAGGAGTCCAAGGAGACCAGCGGAGCAGACCACGCGGCATTTATTGTTGGGCCCGCGTCCCTGCCCGCCCCGGGTTAGCGGCAGCCGCACTCGTCCACCACCATGTCCTCATACTGCCGCAGCACCACGTTGTCGCTGTTGTCAAAGAAGAGCACGGAGATGGGCGACAGGCGCGCGGGCACGCAGCAGGGCAGGTCGGCGGCTCCCGGGGCGGCCGCGTGCATGAGCGCGCGCAGCACAGCGTGGTTGAGCGCCGGCGGCCCCCCGGACCCCGACAGCGCGACGGGCAGCGCGCACTGACCCTGGCAGTAGTTGGCCAGGAAGCCGCGCGGCGCGATGACCCAGCGGTGCCAGCCCACCTCGCGGAAGCTCACGTACAGCCGCCGCGCGCGATAAGCGCCCCCGGGGCCGCCGCCCAACACGGGTTCGGCGTCGCGCCGCGGCCGGGCCAGGGGGTGGCACAGGCGCGGGTCGAGGGTCACCAGCAGCAGCGAGGCCTCGGCCAGGCGCGCGCAGGCGGCAGGGGCCCGGGGGCGTAGCGCCAGCGCCAGGCGGAGGCTGCGCGGCCATGAGGCGTTGCGAGCCCAAGCGGCGCCCAGCAGCTCCGCGCGCACTGGCGGCCCCAGGGCGGGCACCAACTGGCGGAGCAGCACCGGCCCGGGGTCCGCGCCCGCGCCCTGGCCCGCTTGCGCCACGCTCAGCTCCCAGCCGCCCTCCGGGGCTGCCGCCGCCGCCGCCGCGAAACGCAGCTCCAGGCGGGCCCGGCTCGGGCGCTCAGCGGGTTCCACAGCCGACAGGTCGAAGACGACTGTCCACTCAGGGCAATGCCCCGCGGCCGAGGCAGGCTCCGAGGCCCGGGTGGGCGCACCTGGGGAGGTAGGAACAGGAACTCGGCTCGCGCTGCGTCCCCGGCCTGCCCATGGGGTCTCGGTTAGGGACAGGGAGGAAGGTGAACGCTGGGGCTCGGGGCGCACCGTCTGTGGGAAGGGTGTGAAGCGGCGGGGTGGGCTGATGGAGTGGGGGCAGGGCATGAGTTCCAAGGAAGGCGCCCTGCGGGGTGCGGCGGGGGGGGTGGGCTGCCCTCGGCGGGGGGCATAGGAGGAGGGGTGGCCGAAGTGGGAGACATGAGCCAGAACCTGGGCCCCTGGGGAAGCCATGCTAGGGTGTGGGGATGGCATCTGCAGGAAGGCATTAGTGTCAAGAGGTGGGGGTGGGCATGGGGTGGGGACAGGGCTTCAGCATCAAGCAGAAGGACTGGTCTTGGGAACCCCCTGACATGTGTCCCCGGCGTGCAGCAGATGACGAGGAAAGGGTGAGGTGCGGTGGCCGAAGTTGCTAGTAGCCTGGACAGGGCGGGTGGGGACCCTCGGAGCTGCTCGGGCATCCCCGGGCCACTCTCGAGGCTCGCCCTGCGAGGTCTGGCCTCCAGGACCAGTGTCCCCAGCGAAAGCCCCACTCACCGCGGTCCGGGATGTGGCGCACGATGTTTCCGGCGACCCCCAGCTCCTCCACGTGGCACGGTTGCAGGGTGACCCCTGGGGACGTCCGCCGCGAGCCAGACCTGGTCTCCTGGGGGTCCCGGCGTCGAAACAGGCGCCACATGACCGGGGGAACCGGCCGGAGCCTGGGGGCACCCTGGGGCTCATCGCGCAGTCCTAGAGCCTGGAGCAGGGCGGCGGCTGGGCCTGGGGGCACGGGGGCGCGGGTCAGGGGCAGCGAGGGCAGCAGCAGGGCCAGGAGGAGGAGGAGGTGGTGGCCGCAGGGACCTTGCTGCGGCGGTGGCATCTTCCTCCCAGGCGATGACCAGAGAGTGCGCAGGGTCCGCGGCGGCCCGGGACCAGTGGGCTGAGGGCGGGGCCGGTGTCCCCGGAGGGGCAGGGGTCCTGGGGGGCGTGGCCGGGAACTGGAGGCAGGATGAGGGGGCGGGGTCCCAGGGGAGGTGGCGGCGGCCCTAGAGGAGCAGAGTTGGAGGGGGTGGAGGGGCGGCCAAGGACGGGGAGCGTGGCCGGGGTATTCGGGGTGGGGCCGGGTCCACGGGGGCGGGGCCGAGGGGTTCAGAAGCGCTTGTCCTTCACCAGGCCGTTCCTCAGTGGCTTCCTGGGGGTCAGAACCGGCGCAGGTTAGCCTGGGAGCCCCACGCGGCCGCCTGGCCCTCTTTCCCGCTTCTTCTCTGGCCGTTTCACACCCCCTGGCTCCTTTTACCCGGCCAGGCCCGGGCCTCGCCTTGTGGCTTCCTCCTCGCCTTCACCCTGCCCCTCCTTGCCTTCACCCTGCCCCTCCTTCAACCTGCCCCGTAGGCACGTATGTCCCCCCTGGCACCCTGGCACTTCCTCCTTGCTTCCCCCTCTCCAATTAAACCTTCCTCTTCCCCTCCTCCCTGCCTCTCCAGGCCGCTGGAGGGCAAAACCCACGTACCGGCCTGGGCCTGACAACTCCACCGC
Task1_train_26984
This variant affects gene GDF1, CERS1 (growth differentiation factor 1| ceramide synthase 1) located on Chromosome 19. Evaluate its biological effect and specify any disease association.
Pathogenic; Progressive myoclonic epilepsy type 8
GATTACAGGCATGAGCCACTGCACCTGGCCTTTTCTCCATAATTCTTATCACCTTCAAATGAACTGTTCCTTCCTTCCTTTTTGGTTCTATCATCTGATTCTGCCCTCTAGAGAGCCTTGAATTATAGAACTTTCTAGAACTATGGGAATGTTCTAAACCTGTACTGTCCAACATGGGAGCCACCAGCCACTTGTGGCCACTGAGCCCTTGAACTGTGGCTTGTGTGGCTGAGGAATGGAATAGGGGCTTTTTAAAATTATTTTTTAAACTAACCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGTCCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAATAATTAGCCGGTGTGATGTCATACCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGAGGCGGGAGGATTGCTTGAACCTGGGAGCCGGAGGTTGCAGTAAGCCAATGTCATGGCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAATAAGTAAGTAAATAAATAAGATAAAGTAATTTTAAAAATGTATTTATGTACGTGTTTGTTTATTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACACGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCTCGCCTCGGCCTCGCAAAGTGGTGGGATTACAGGCGTGAGCCACCGCACTCAGCCTAAAAATTTATTTATTAGAGACAGGGTCTCCCTACGTTGCCTAGGTTGAACTCAAACTTCTGGGTTCAAGCAATCCTCCTGACTCAGCCTTCTAAGTAGCTGGGGGACTACAGGCATGAGCTACTGCTCCTGGAGTTTTATTTAAGTCTAATTAAAGTTGAAAGGGCCACCTCTTTGTTGCTCTATATTTGTGGGGCGTGGCTACCCTATTATCGCAGCTAGAGCAGCTAGTCCCGTAGGAATAGTATATGAGCAGTGTATTTCATTTTAAAGTTTCTATTGGCCACATTTAACAAGAAAGAGAAAAGAACAGGTAATATTAATTTTAATAATGCATTCTAATTAATTCAGTATATCCAAAATATTGTCATTTCAATATGGAGTCGAGATAACAAGGCCAGGCGTGGTGGCGCACACCTGTAATCCCCACACTTCGGGGAGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGGTCCAGGCTGCAGTGAGCAATGGTCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAAAAAAAGAGAGAGAGAAATAAAAGGGTGGATAAGATATTTTCACTCGTTTGTATGTGAAGGCTTTGAAGCCGGGTGGGTTTTATGCACACAGCATGGTGAGGTTTGGACAGACTCCATCTGAAAGGCTCACTGACGGCTGTGGTTGGCTCTAGAACATCAGGGTGTGTCAGCTGCGTTCACAGCCATGCCCCCATTGCTTGGGCGTGGCAGGTGCTCAGGAACTCCTGGGTGTGTGACCTGGCTGGTCAAGGGCAGCGTCTGAAGAGCTGGGTGGGTGAGTGGGGTGGGGTGGCTATGGCTCTCTGGGCCTGTTTCACCCCATCCCAGCGGAATCTCCCTCAGGAATCTCCGGGCCCACATCCCCTCCTCAGCCTTCCTGCCTCTGGTCTGTCCCCTCGTCGGACCCCTGAGCACTCTGACCTTGGAACCCTGAGCACTCCGACCTGATGTGATCCCCTCCACGGCCTCCTCTGTGCCCCGCCGCAACATCAGCCTCCGCACTCTGTGTGGGCTGTGCCTCGGCCCCCTGCCACCCGATCCTGTCCTTACCGGAAGGCGTAGGAGGAGACGATGAGGATGAGAGTGACCACGTGGTGGAGCAGCATGACCACCGAGTCCTTGCGCCAGGTGTCCATGTATAGCGTAGCGTAGATGGAGTGGCCATAGAAGCTTCCCTGGAGCAGGTAGGCGGCTGCAATGTCCCGTGGCACTGCCATGCCCGGCGTCCAGTCTGGGGAGAGCCAAATCTCACAGTCAGGGCCCTGCGAAGCCTCTAGACGATCGCCTCCATGACCCGGTGACACCCTCCAAGCCACACGTGTCCTCCCAGTACCCAGGTAACCATGCGTGTCTGACTGCTGGCTTTCCATTCCCAATTCTATTTTTTTTTTTTTTTCTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCCACATCCTGGGTTCAAACGATTCTCCTGCTTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCATGCCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCATGATTCACCTGCCTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCCCGCCCAGCCGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTCACCAGACTGGAGTGCAGCGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGCTGGACACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGCTTTTGCCATGTTGGACAGACTGGACTTGAACTCCTGATCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGCAGGGATTTTTATTTTAGGAAGAGTTTTGGGTTTCTAGGAAAATTGAGCAGATAGGACAGAAAGTTCCTTTCTTTCTTCTGCCCCAACATACCCACAGATTTCCATTTCCCTGGCTTTAAGTGGTATATTTGCTACAAATGCTGAACTAATATAGACACATTATTATCATTATATACATTTAAAATGTTTTATATATAGTTTTAGAGTTGGCTTGTTCTGTGGCCCATGCTGGAGTGCAGTGGTGTGATCATAGTTCACTGCAGCCTCGACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCCATAACCATGCCTAGATAATTTATTTCTTTTTTAATTTTTGTGTTGCCATGTTGCCCAGGGTGATCTCGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGGATGAGCCACCTCACCCAGCCCAGCGCCCCTTCTCGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCATATCCGGGGTTCAAGTGATTCTCCTGCCTCAGCATGCCAAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCTAATTTTTTTTTTTTTCAGTAGAGACAGGGTGTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCGCTGCGCCCGGCCTCTTCCTGTCTTTAACAGAGCCCTGCCTTGCGGGTGTCCTGGGCCCACTCCCTGCAAATCCCTGGCCCTGACAGATGCGGCTGCCCACGGAGTCTTGCCATGCCCGGGCACACCATGCCACCAAGCGCAGGGTCTCCCGCCAAGCGGGTCCTGCCTCACCTTCCCCTCCTCCTGCCTCCTGGTGCACCTGACCACCACGCTCAGGTGATGGGTGACACACCAGCCCACCCCACCACGTCCACCTCCTCCTCTCCTCAGCCACATCCCCAGAGGCTGCCAGACACCAAATTCAAGGGCTATGCTCTGGACGGGCACGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGG
GATTACAGGCATGAGCCACTGCACCTGGCCTTTTCTCCATAATTCTTATCACCTTCAAATGAACTGTTCCTTCCTTCCTTTTTGGTTCTATCATCTGATTCTGCCCTCTAGAGAGCCTTGAATTATAGAACTTTCTAGAACTATGGGAATGTTCTAAACCTGTACTGTCCAACATGGGAGCCACCAGCCACTTGTGGCCACTGAGCCCTTGAACTGTGGCTTGTGTGGCTGAGGAATGGAATAGGGGCTTTTTAAAATTATTTTTTAAACTAACCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGTCCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAATAATTAGCCGGTGTGATGTCATACCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGAGGCGGGAGGATTGCTTGAACCTGGGAGCCGGAGGTTGCAGTAAGCCAATGTCATGGCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAATAAGTAAGTAAATAAATAAGATAAAGTAATTTTAAAAATGTATTTATGTACGTGTTTGTTTATTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACACGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCTCGCCTCGGCCTCGCAAAGTGGTGGGATTACAGGCGTGAGCCACCGCACTCAGCCTAAAAATTTATTTATTAGAGACAGGGTCTCCCTACGTTGCCTAGGTTGAACTCAAACTTCTGGGTTCAAGCAATCCTCCTGACTCAGCCTTCTAAGTAGCTGGGGGACTACAGGCATGAGCTACTGCTCCTGGAGTTTTATTTAAGTCTAATTAAAGTTGAAAGGGCCACCTCTTTGTTGCTCTATATTTGTGGGGCGTGGCTACCCTATTATCGCAGCTAGAGCAGCTAGTCCCGTAGGAATAGTATATGAGCAGTGTATTTCATTTTAAAGTTTCTATTGGCCACATTTAACAAGAAAGAGAAAAGAACAGGTAATATTAATTTTAATAATGCATTCTAATTAATTCAGTATATCCAAAATATTGTCATTTCAATATGGAGTCGAGATAACAAGGCCAGGCGTGGTGGCGCACACCTGTAATCCCCACACTTCGGGGAGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGGTCCAGGCTGCAGTGAGCAATGGTCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAAAAAAAGAGAGAGAGAAATAAAAGGGTGGATAAGATATTTTCACTCGTTTGTATGTGAAGGCTTTGAAGCCGGGTGGGTTTTATGCACACAGCATGGTGAGGTTTGGACAGACTCCATCTGAAAGGCTCACTGACGGCTGTGGTTGGCTCTAGAACATCAGGGTGTGTCAGCTGCGTTCACAGCCATGCCCCCATTGCTTGGGCGTGGCAGGTGCTCAGGAACTCCTGGGTGTGTGACCTGGCTGGTCAAGGGCAGCGTCTGAAGAGCTGGGTGGGTGAGTGGGGTGGGGTGGCTATGGCTCTCTGGGCCTGTTTCACCCCATCCCAGCGGAATCTCCCTCAGGAATCTCCGGGCCCACATCCCCTCCTCAGCCTTCCTGCCTCTGGTCTGTCCCCTCGTCGGACCCCTGAGCACTCTGACCTTGGAACCCTGAGCACTCCGACCTGATGTGATCCCCTCCACGGCCTCCTCTGTGCCCCGCCGCAACATCAGCCTCCGCACTCTGTGTGGGCTGTGCCTCGGCCCCCTGCCACCCGATCCTGTCCTTACCGGAAGGCGTAGGAGGAGACGATGAGGATGAGAGTGACCACCTGGTGGAGCAGCATGACCACCGAGTCCTTGCGCCAGGTGTCCATGTATAGCGTAGCGTAGATGGAGTGGCCATAGAAGCTTCCCTGGAGCAGGTAGGCGGCTGCAATGTCCCGTGGCACTGCCATGCCCGGCGTCCAGTCTGGGGAGAGCCAAATCTCACAGTCAGGGCCCTGCGAAGCCTCTAGACGATCGCCTCCATGACCCGGTGACACCCTCCAAGCCACACGTGTCCTCCCAGTACCCAGGTAACCATGCGTGTCTGACTGCTGGCTTTCCATTCCCAATTCTATTTTTTTTTTTTTTTCTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCCACATCCTGGGTTCAAACGATTCTCCTGCTTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCATGCCACCAAGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCATGATTCACCTGCCTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCCCGCCCAGCCGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTCACCAGACTGGAGTGCAGCGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGCTGGACACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGCTTTTGCCATGTTGGACAGACTGGACTTGAACTCCTGATCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGCAGGGATTTTTATTTTAGGAAGAGTTTTGGGTTTCTAGGAAAATTGAGCAGATAGGACAGAAAGTTCCTTTCTTTCTTCTGCCCCAACATACCCACAGATTTCCATTTCCCTGGCTTTAAGTGGTATATTTGCTACAAATGCTGAACTAATATAGACACATTATTATCATTATATACATTTAAAATGTTTTATATATAGTTTTAGAGTTGGCTTGTTCTGTGGCCCATGCTGGAGTGCAGTGGTGTGATCATAGTTCACTGCAGCCTCGACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCCATAACCATGCCTAGATAATTTATTTCTTTTTTAATTTTTGTGTTGCCATGTTGCCCAGGGTGATCTCGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGGATGAGCCACCTCACCCAGCCCAGCGCCCCTTCTCGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCATATCCGGGGTTCAAGTGATTCTCCTGCCTCAGCATGCCAAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCTAATTTTTTTTTTTTTCAGTAGAGACAGGGTGTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCGCTGCGCCCGGCCTCTTCCTGTCTTTAACAGAGCCCTGCCTTGCGGGTGTCCTGGGCCCACTCCCTGCAAATCCCTGGCCCTGACAGATGCGGCTGCCCACGGAGTCTTGCCATGCCCGGGCACACCATGCCACCAAGCGCAGGGTCTCCCGCCAAGCGGGTCCTGCCTCACCTTCCCCTCCTCCTGCCTCCTGGTGCACCTGACCACCACGCTCAGGTGATGGGTGACACACCAGCCCACCCCACCACGTCCACCTCCTCCTCTCCTCAGCCACATCCCCAGAGGCTGCCAGACACCAAATTCAAGGGCTATGCTCTGGACGGGCACGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCCGAGG
Task1_train_26985
This variant lies on Chromosome 19 and affects the gene LOC130064074, NDUFA13 (ATAC-STARR-seq lymphoblastoid active region 14360| NADH:ubiquinone oxidoreductase subunit A13). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Hurthle cell carcinoma of thyroid
CCGTTAGAGCCAGGTGCGAGGAACAGCGAGTTTATTGCAGGTTCCAACCGGGAACCTGGCACCCACGGCTGGTTGGGAAGGGACGCCCTCCGCGCAGAGGCTGAGAGTTCCGCGCAGGCGCAATGCTTCCGTCCCCTCTGGTCTCGCCCTCTCGGGGCCTGGTCGCAGGGAATCGCGGATGCGCATGCGCCTCCAGCTCCCGGGATCGCGGGGAACGTGGATTCCGAACAAGGGCAACTGCGGACTCCCCCGTGGGAAGAAAGGGAGGGAAGCGGAAGGGAAAAAGCGCATGTGCAGCAGCACGCGGCAGCTTCGCATATTCCCTCGAAGCGCGCCTCTTGCGCGTGCGCCGCCCTGGCCCAGTGCCCTTGGCTGCAGGAATGGCTGGAACCACCCGGCTTCTAGCCGGAGTCCCCGGCGCGCAGCCAGCAGTTGCGCGCTACCTGGCCCGCGGAGGGCCTGGCGGACGGGCTGAACTGCAGCAGCTCGGCGATCAGGGCCTTGCAGCGCTCGGACAGCTCGAGGCCTTCGGGATAGAGCACGCCGCGTTTCTGGCGCCGGGGCAGGCCGGCGATGTCCGAGTCGTCGAAGGGCATGCACCCGGTGACCATGACGTAGAGCACGACGCCCATGCTCCACACATCGTACTTCTTGGGGTCGTAGGGGATGCCCAGGAGCACCTCGGGTGACGCGTAGGCGGCTGAGCCGCAGTAGGTGGTGCTCAGGTCTGGGTAGCCATGGGCCTGGCGGCCGAAGCCGAAGTCGGTGAGCTTGACGCGGCGCTCGTCCGGGCTCAGCAGCACGTTTTCGCACTTGAGGTCGCGGTGCACCAGGTGATGATCGTGCAGGTAGCGCACGGCGCCGGCGATCTGCGCAAAGAGGTCGCGCGCCTGAACTCCGGGGATGCGCCCGTTGCGCTGCACGGCTTGCAGCAGGTCGGTGGCGGCCGCTTCCATCACGATGTACAGTTTCCCGTTGCACACCTCGATGAACTCGAAGACGTGCACGATGTGCGGGTGTCGCACGCCCCGCAGGATGGACAGCTCTCGCGGCAGGAACTTGTTGACGAAGTCCGGGGGCGCTCGCCGCCGGTCCACCACCTTGATGGCCACGGTACCCTTGTACTTCTTGGATGTGGCCACCTTCACCTTGGAGTAGCTGCCCTCTCCAATTGTGCGGCCCAGCTTATAACCGAGTTCGCTCAGAAGTTTGTCTCCCGACATGGTGGCGCCTAGGGCGCACGGGGGGCAGGAGGCGGCTGCTGTCGGGGGGCGGCCGGACTCCAATCTCGGGTCTAAGCCATGGCGCTTGGCACCTACACCCCCGCACCCCCATGTGCCCACTGCCAGACATTGGCCGCTGTTGTGCCTTTTATTGCCCCGTAACAATTTTTGCCTTGTGAAGTGACTGCGGGCGTCACTCCGCCTTAGGGTGGGGGTCCGGGACCCCGCCCCGGGGCCACCCTAGCCTCCCTGCTTTGTGACTCATAATCATCCTGAATGGTCAGTTTCCGATGAGAGGCCACTAGCAAGGGATACCCATCACCACCAGGGAGCAGAATCCGTTCCAGGGATTGGGGTGAGTCCGACTTCGAGCAGCAGCTGCCCCCCAACATCATGTACCCAGCCCGTGACTACGTGGAGCCCTGGGCTTCGCGTAGAGTCCCTAGACGGGGCGAAAACGGGAAAAGGGGCCTTAACTGGGGCACCTGGCTCCTTTGAGAGCTCGGAGTTTCTGACTGGCCTGCGCAACACCCCAGAGGCAAGGTGAACGCGAGGGCCTATAATGCAAGAACCAAGGCGAGTCACGCCCTGTCTGGGCAAAAGAGGAGTAAAGACCCCTCAGCTGCAGCCCGGCAGCGCATTCCTACCCAGGGTCCGCCGCCAGAGCTTTCCCGCGCGGTCGGATAGTTACACTACTGTCCGGGACTTCCTAGCCGTGCCGCGGACCATCTCAAGTGCTTCCGCCACACTCATCATGGCGGTGGCAGTAAGTCACTTCCGCCCGGGACCGGAAGTGTGGGATACTGCGAGTATGGCGGCGTCAAAGGTGAAGCAGGACATGCCTCCGCCGGGGGGCTATGGGCCCATCGACTACAAACGGAACTTGCCGCGTCGAGGACTGTCGGGTCAGTATCACTCTGCGCCGGGGTCTCAGAGTCTGGGCACTCGGGGCTCGGGGGCGGGGTTCCGGGGACACAGGCGGGCCTCAGTTTTCCCGGCGGTGTGACCGGAGGCGGAGCCCGGGGATCCATCATAGCTTCTGTAATAACGCTAAGTGCTGCAGTTTGTTGAGGTCTTTCCCAGCTCCTCTTCCTTCTCGTAACAGCCCAGGAAATCGGTCCCTCTAGTTATTTACGTTTTACAGTGGGTTAAACTGAGTCATAGCCTGTGCTCTGGCCCTCAGCCACCCTTGGATTTCTAAGATGGGGAAACTGAGGCCCAAAGAAGGCCGCGGCTCCCCAAGGCAAAGCTGAGGCCGCAACCCGGAACCTGGAGGGAATTTACAAGATGTTCTATGCAGTGGTTCCCTGCTGGCAGCCCCCGCCTGCATGGTGTCACAGGAATCCATATTCTTTAAATTTTCAATTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACAACGCCTGGCTAACTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCGAACTCCCAACCTCGGATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCGTAAAGTTTTCAAATGTTTAAGTAACACGTTAAATTTTGTTATCGGGCTCAGCACAGAAAATTGAAAAAGAGAACTTAAAAGGCGCCCATACTCAGTCCCCAGGTTAACAGACAAATAGAAACTTTTAAACGTAATCTAAGAGTGAATACATACATTTCTTTTTTTTTTTTTAAGACGGTATGGTTCTGTTGCCTGGGCTGGAGTGATTTCTTGGCAACCTCCGCCTCCTGGGCTCAAGCCATCCTCCCACCCCAGCCTCCTGAGAAGCTGGGATTACAAGCATGCGCCCAGCTTTCTGTATTTTCTATAGAGATGGGATCTCGCCATCTTGCCCAGGCTGGTCTCGAAGTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGATGGGACTATCGGCATGAGCTACCGTGCTCGGCAGAATGCATGTCTCTTAACAAATCAAACTTTACATTTAAATTACATGTTATGCACATTATTCCTCAATTTTAACACACACACAAAAATGAGCATGGTAATTAAAAACGTAATAATTCAGACAGTAGAAAAATCAGTGTGAGGTGAAAAGTCCTCCCCAGCCCCTTCTTGGTTTTTTTATTTTTTATTTCTACTTTTTGTAGAGACAGGGTGCAGCTATGTTGACCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCAGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGCGGCCAACCTCCTCTTGTTTTTCTTGTATCCCAGAACTGAGATTGGCAGACTTTTTCTATAAAAGGGACAGATGACAAGTATTTTGGGTTTGGCTGGCCAGAAAGTTTCAGTTACTGAGACAACCATTTACAAATGGAAAGTGTTCTTAGCCTGGGGGCTCTACAAAAACAGATTGCCTGTGAGCCAGGTGGCTCATGCCTGTAATCCCCACACTTTGGGAGGCTGAAGCGGGAGGATGGCTTGAGCCCAGGAGTTTGTGACCAGCCTGGGCAACATAGTGAGACCCCCACCTCTACCAAAAATTAAAAAAAAAAAAAAGAGGCTTCAGGCTAGATCTGGCCCATGAGTGCTGTCCCAGAACACATTGGAGGAATATAATGCATTCTATTTCCTCATTTTTCTTTTTTCTTTTCTTTCTTTCTTTTTTATTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTAGAGTGCAGTGGCCCGAT
CCGTTAGAGCCAGGTGCGAGGAACAGCGAGTTTATTGCAGGTTCCAACCGGGAACCTGGCACCCACGGCTGGTTGGGAAGGGACGCCCTCCGCGCAGAGGCTGAGAGTTCCGCGCAGGCGCAATGCTTCCGTCCCCTCTGGTCTCGCCCTCTCGGGGCCTGGTCGCAGGGAATCGCGGATGCGCATGCGCCTCCAGCTCCCGGGATCGCGGGGAACGTGGATTCCGAACAAGGGCAACTGCGGACTCCCCCGTGGGAAGAAAGGGAGGGAAGCGGAAGGGAAAAAGCGCATGTGCAGCAGCACGCGGCAGCTTCGCATATTCCCTCGAAGCGCGCCTCTTGCGCGTGCGCCGCCCTGGCCCAGTGCCCTTGGCTGCAGGAATGGCTGGAACCACCCGGCTTCTAGCCGGAGTCCCCGGCGCGCAGCCAGCAGTTGCGCGCTACCTGGCCCGCGGAGGGCCTGGCGGACGGGCTGAACTGCAGCAGCTCGGCGATCAGGGCCTTGCAGCGCTCGGACAGCTCGAGGCCTTCGGGATAGAGCACGCCGCGTTTCTGGCGCCGGGGCAGGCCGGCGATGTCCGAGTCGTCGAAGGGCATGCACCCGGTGACCATGACGTAGAGCACGACGCCCATGCTCCACACATCGTACTTCTTGGGGTCGTAGGGGATGCCCAGGAGCACCTCGGGTGACGCGTAGGCGGCTGAGCCGCAGTAGGTGGTGCTCAGGTCTGGGTAGCCATGGGCCTGGCGGCCGAAGCCGAAGTCGGTGAGCTTGACGCGGCGCTCGTCCGGGCTCAGCAGCACGTTTTCGCACTTGAGGTCGCGGTGCACCAGGTGATGATCGTGCAGGTAGCGCACGGCGCCGGCGATCTGCGCAAAGAGGTCGCGCGCCTGAACTCCGGGGATGCGCCCGTTGCGCTGCACGGCTTGCAGCAGGTCGGTGGCGGCCGCTTCCATCACGATGTACAGTTTCCCGTTGCACACCTCGATGAACTCGAAGACGTGCACGATGTGCGGGTGTCGCACGCCCCGCAGGATGGACAGCTCTCGCGGCAGGAACTTGTTGACGAAGTCCGGGGGCGCTCGCCGCCGGTCCACCACCTTGATGGCCACGGTACCCTTGTACTTCTTGGATGTGGCCACCTTCACCTTGGAGTAGCTGCCCTCTCCAATTGTGCGGCCCAGCTTATAACCGAGTTCGCTCAGAAGTTTGTCTCCCGACATGGTGGCGCCTAGGGCGCACGGGGGGCAGGAGGCGGCTGCTGTCGGGGGGCGGCCGGACTCCAATCTCGGGTCTAAGCCATGGCGCTTGGCACCTACACCCCCGCACCCCCATGTGCCCACTGCCAGACATTGGCCGCTGTTGTGCCTTTTATTGCCCCGTAACAATTTTTGCCTTGTGAAGTGACTGCGGGCGTCACTCCGCCTTAGGGTGGGGGTCCGGGACCCCGCCCCGGGGCCACCCTAGCCTCCCTGCTTTGTGACTCATAATCATCCTGAATGGTCAGTTTCCGATGAGAGGCCACTAGCAAGGGATACCCATCACCACCAGGGAGCAGAATCCGTTCCAGGGATTGGGGTGAGTCCGACTTCGAGCAGCAGCTGCCCCCCAACATCATGTACCCAGCCCGTGACTACGTGGAGCCCTGGGCTTCGCGTAGAGTCCCTAGACGGGGCGAAAACGGGAAAAGGGGCCTTAACTGGGGCACCTGGCTCCTTTGAGAGCTCGGAGTTTCTGACTGGCCTGCGCAACACCCCAGAGGCAAGGTGAACGCGAGGGCCTATAATGCAAGAACCAAGGCGAGTCACGCCCTGTCTGGGCAAAAGAGGAGTAAAGACCCCTCAGCTGCAGCCCGGCAGCGCATTCCTACCCAGGGTCCGCCGCCAGAGCTTTCCCGCGCGGTCGGATAGTTACACTACTGTCCGGGACTTCCTAGCCGTGCCGCGGACCATCTCAAGTGCTTCCGCCACACTCATCATGGCGGTGGCAGTAAGTCACTTCCGCCCGGGACCGGAAGTGTGGGATACTGCGAGTATGGCGGCGTCAAACGTGAAGCAGGACATGCCTCCGCCGGGGGGCTATGGGCCCATCGACTACAAACGGAACTTGCCGCGTCGAGGACTGTCGGGTCAGTATCACTCTGCGCCGGGGTCTCAGAGTCTGGGCACTCGGGGCTCGGGGGCGGGGTTCCGGGGACACAGGCGGGCCTCAGTTTTCCCGGCGGTGTGACCGGAGGCGGAGCCCGGGGATCCATCATAGCTTCTGTAATAACGCTAAGTGCTGCAGTTTGTTGAGGTCTTTCCCAGCTCCTCTTCCTTCTCGTAACAGCCCAGGAAATCGGTCCCTCTAGTTATTTACGTTTTACAGTGGGTTAAACTGAGTCATAGCCTGTGCTCTGGCCCTCAGCCACCCTTGGATTTCTAAGATGGGGAAACTGAGGCCCAAAGAAGGCCGCGGCTCCCCAAGGCAAAGCTGAGGCCGCAACCCGGAACCTGGAGGGAATTTACAAGATGTTCTATGCAGTGGTTCCCTGCTGGCAGCCCCCGCCTGCATGGTGTCACAGGAATCCATATTCTTTAAATTTTCAATTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACAACGCCTGGCTAACTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCGAACTCCCAACCTCGGATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCGTAAAGTTTTCAAATGTTTAAGTAACACGTTAAATTTTGTTATCGGGCTCAGCACAGAAAATTGAAAAAGAGAACTTAAAAGGCGCCCATACTCAGTCCCCAGGTTAACAGACAAATAGAAACTTTTAAACGTAATCTAAGAGTGAATACATACATTTCTTTTTTTTTTTTTAAGACGGTATGGTTCTGTTGCCTGGGCTGGAGTGATTTCTTGGCAACCTCCGCCTCCTGGGCTCAAGCCATCCTCCCACCCCAGCCTCCTGAGAAGCTGGGATTACAAGCATGCGCCCAGCTTTCTGTATTTTCTATAGAGATGGGATCTCGCCATCTTGCCCAGGCTGGTCTCGAAGTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGATGGGACTATCGGCATGAGCTACCGTGCTCGGCAGAATGCATGTCTCTTAACAAATCAAACTTTACATTTAAATTACATGTTATGCACATTATTCCTCAATTTTAACACACACACAAAAATGAGCATGGTAATTAAAAACGTAATAATTCAGACAGTAGAAAAATCAGTGTGAGGTGAAAAGTCCTCCCCAGCCCCTTCTTGGTTTTTTTATTTTTTATTTCTACTTTTTGTAGAGACAGGGTGCAGCTATGTTGACCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCAGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGCGGCCAACCTCCTCTTGTTTTTCTTGTATCCCAGAACTGAGATTGGCAGACTTTTTCTATAAAAGGGACAGATGACAAGTATTTTGGGTTTGGCTGGCCAGAAAGTTTCAGTTACTGAGACAACCATTTACAAATGGAAAGTGTTCTTAGCCTGGGGGCTCTACAAAAACAGATTGCCTGTGAGCCAGGTGGCTCATGCCTGTAATCCCCACACTTTGGGAGGCTGAAGCGGGAGGATGGCTTGAGCCCAGGAGTTTGTGACCAGCCTGGGCAACATAGTGAGACCCCCACCTCTACCAAAAATTAAAAAAAAAAAAAAGAGGCTTCAGGCTAGATCTGGCCCATGAGTGCTGTCCCAGAACACATTGGAGGAATATAATGCATTCTATTTCCTCATTTTTCTTTTTTCTTTTCTTTCTTTCTTTTTTATTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTAGAGTGCAGTGGCCCGAT
Task1_train_26986
This alteration occurs within gene LOC125371495, NDUFA13 (Sharpr-MPRA regulatory region 9511| NADH:ubiquinone oxidoreductase subunit A13) located on Chromosome 19. Is it associated with a disease or is it a benign variant?
Pathogenic; Hypertrophic cardiomyopathy
CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTCTGCACCAGAAGGCTGAGGGCAGCCCAGGTCTGTCCCCTGGGTTCTCTGTAGCCGTGGAAAATAATGAGATATGGCCGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTGCAGGTGGATCATGAGGTCAGGAGGTCGTAACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCCGGAGGCTGAGGTGGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACCCCAGCCAGGGCAACAGAGTGAGATTCCGTCTCAAAAATAAATTAATTAAAAAAAAGAAAAGAACGAGATATGACCAGCCTGGGCAATATAGCAAGACCCCATCTGTACAAAAATTAGTTAACTGGACATGGCACACACCTGGGGTCCCAGTTACTCGGGAGGCTAAAGTGGAAGGATCACTTGAACCCAGGAGTTGGAGGCTGCATTGAGCCATGATTGCGCCCCTGCACTCCAGCCTGGGTAGCAGAGTGAGACCTTGTCTCAAAACCAAAAACCAAAAAAGGAAAAAAAAATGAACAAGGCAGCTGATGAAACCTCCCATGTGCTAGACAGGAGGCTGAGAGCTGGGAGCTGGCCCTGAGCACCCTGGGCCTCTCCAGAGATGTGCCTCTGAGCCCGGACCCAGCACACCCTCATTACCTGTAGTATGGAAATGTCTTAGCCCTGACTTGGGCTTCTAACAGGTTAAATAACCAGGTACAAATTTGAGCCAGTTTCTCATTTATCTCCGGGTCTAGCAGAGGTGCCCCCGTGAGCTCCATGCTGGAGCAGAGCTGAAGGCAGAAGAGCATGACAGGTGCAGAGCAGGGCCCGGCAGGCACAGAGTAGCCCCAGCAGGCATAGAGCAGGGCCAGTGCCCTGGAGGCCTGGAGATGGCCTTGCCTTCCACCTGCTGGTCATTTCCTGGGTGTTGACTGGAGCCTGGCCTACCTGAGCTTTTCATTCATCCCACCAAGTGCAAAGCCTGTCCAGAGAAGAGACTGGGGCTGGAAGGATCTGGAGGGTGCAGGGTGAGCCTGGGAGCCAGATCCCAGACAGCCCAGGCCTCTCTGAAGATCCCAGTGGGCCCCCAGCCTGTCAGTCAGGATTAGAGCAAGGCCCCACTGGTGCTCAGTAAATATTCATGATGGCCTAGGTCCTTCCTGGGGTGCAGGGCAGGGGGCTTCACCCTGCAGAGCCAAGAGGTAGCACGGCCACCCCTAGAGTCCGGGGGGTGGCTGGGCAGCCCCCACAGGGCACTGCCTGTCCCTGGCAGCTGTGTGCAGCCCCCGCAGGGCAGCACGCGGAACTGTGGCCCAGGTGGCCGGGAGCCACCATGGACACTGTCAGAACTGCCCTTCCACTTCAGGGCCAGCCTGCCGCCCAGGGTCCAAACAGCCTTCTAGAACACGATGGACCTGGGGCCCCCCTAGCAACCACCATCTAGACCCTCAGGCCTCCTGAGGTTGCTGCCTGGCTTGTACCTTTCAGAAAACCCCTGGCATGGGGGCAGAGGTGTCACAGTCCAAGCAGCCTCACTCCTGAGAAGCCGCCAGTGTCCCCTGATTGCAGAGTGGGCAGCGCCTGGAGCTGTGGAGGAGGGTGTCTGGGGGCGGGCTGGCCCGCTGAGCAGCGCCTCTCTTCACAGGCTACAGCATGCTGGCCATAGGGATTGGAACCCTGATCTACGGGCACTGGAGCATAATGAAGTGGAACCGTGAGCGCAGGTAGGGCCCCTGGTGGGCGTTGTCTGAAAGTGCCCCCCCGGCGAGTTGTCGGGGTCCTGTAGCATTCCGCTGTTGTCTGTGCTGGCGAGGGGTGAACGGGCCCCTTGGACTTGGCTGTGCAATCCCAGGCCCCAGAAAGTGCAGATCCAGACCCAGCACTTCCACTTCTAGGCTCTGTCCTCGAGATGTCTCCATGTCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGCATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGGGAAACCCTGTCCTCGCCACCCCAAAAAATGTGTCTAGTGAGGAGGGTTGGGACCCGTGGATCCAGATTAGGACAGGATATGAGTGGGGGGCCTGCCTCGGGCCCTCTAAGCAGGATTTTGTCAGAGGTGACCAGGCTCAAACCAGACCACACCAGGCAGTGGACACACAGGGCCAGATGAACTAGGGCCAGGCGCCCCCCTCTCCCTGTGTCACAGGCTGGGCACTCCTTCCCCACCCCTCCCCCAACCCCAACGCAGGCCAGGCAGGACTGGGAGATGGGGGTCATTGCAGGGAACTTGGAAACTGCCAGAAAGCAGGGAGAAGAAAGGAAAGATTGTGGCCCCGCCTGCCCCAGCCTCACACACTGATTATTTTGAGATGAAGGGGACGTGGTTTTGTGAGGCCCAGAGCCCCGTGATGAAGTCACCCCCTCTTCGTCGCGATCATCAGGCAGAGTTATTTTTAGGATAAAAAAAGTTTTTAATTGAAAAGAAAGTAGAAAGCCAACAGTCTTGTGGGCAGTCACCCGTGCAGCTGCCTGCACCCGCCCTCCTCTCAGGCTCCTGGTGGGCTCTGCCCACAGCCCTTGCCCTTCCCGCGACCCTCGCCCTGCCCCCTGCCTGCCTCCCCGCCCCCCTCCGCCTCTTCCCCCAGCAGCACCCTGGCCCCTGAGGTCTGTGCTGCCTGTGCTCCCCCGACCTAGCCTGGTCTGACCTGAGTGTGGGTTTCGGGCTTTCACAGGCGCCTACAAATCGAGGACTTCGAGGCTCGCATCGCGCTGTTGCCACTGTTACAGGCAGAAACCGACCGGAGGTAGCACCGCAGGGGCCAAGGTTGGGAGGTCACTGGCCGGAAGGCCCCAGGCTGCAGGGCCTGACCTGCATCCCCGAAGGTGGCCAGAATGCACGTGGGGGCCATCGCCCTGTGCCGTCAGCTGCATCCTCAGGCGTGGAGACTTAGTGGAGACCCAAGGGGGCGAACCGGAAGGCTTCCTGGAGGAGGAGGCAGCACTGGGGTTGGGGCAAGAGAAAAGCTAGGAGTTGGCTGGGGGAAAAGGAGACAGGGTCGGAGGGAGGCTTGAAGGGGTGCTACTAGGGGCCCTAGGCAGGGGCCCCTCAGGGCACTGAGGCCCCACCCCCACCATCGGCCCCATCCCCACAGGACCTTGCAGATGCTTCGGGAGAACCTGGAGGAGGAGGCCATCATCATGAAGGACGTGCCCGACTGGAAGGTGGGTCCCGGCTGGGAGGGCAGAGGTGCCAGCCACGGCAGAGACAGGGCCTGGGGTTGGGGAGCTCCCACAGCTTTCTATAGAAACCCCAGGACCAAGGGGGTGGTGGGTGCCAGGTCCCACAAGGGAAGGCTGTAGCGCCTGCCACGCACAGGGGCCACTGATCCTGGGGGATGGGTCCTAGCAGGCTGTATATGGGTGGCTGTGCCTCTACCCATACCCCACTGTCCCCACAGGTGGGGGAGTCTGTGTTCCACACAACCCGCTGGGTGCCCCCCTTGATCGGGGAGCTGTACGGGCTGCGCACCACAGAGGAGGCTCTCCATGCCAGCCACGGCTTCATGTGGTACACGTAGGCCCTGTGCCCTCCGGCCACCTGGATCCCTGCCCCTCCCCACTGGGACGGAATAAATGCTCTGCAGACCTGGCCTGCCTGTTTTCCTGGGGACTGGGGGAAAGAAGGGGGAGAGG
CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTCTGCACCAGAAGGCTGAGGGCAGCCCAGGTCTGTCCCCTGGGTTCTCTGTAGCCGTGGAAAATAATGAGATATGGCCGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTGCAGGTGGATCATGAGGTCAGGAGGTCGTAACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCCGGAGGCTGAGGTGGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACCCCAGCCAGGGCAACAGAGTGAGATTCCGTCTCAAAAATAAATTAATTAAAAAAAAGAAAAGAACGAGATATGACCAGCCTGGGCAATATAGCAAGACCCCATCTGTACAAAAATTAGTTAACTGGACATGGCACACACCTGGGGTCCCAGTTACTCGGGAGGCTAAAGTGGAAGGATCACTTGAACCCAGGAGTTGGAGGCTGCATTGAGCCATGATTGCGCCCCTGCACTCCAGCCTGGGTAGCAGAGTGAGACCTTGTCTCAAAACCAAAAACCAAAAAAGGAAAAAAAAATGAACAAGGCAGCTGATGAAACCTCCCATGTGCTAGACAGGAGGCTGAGAGCTGGGAGCTGGCCCTGAGCACCCTGGGCCTCTCCAGAGATGTGCCTCTGAGCCCGGACCCAGCACACCCTCATTACCTGTAGTATGGAAATGTCTTAGCCCTGACTTGGGCTTCTAACAGGTTAAATAACCAGGTACAAATTTGAGCCAGTTTCTCATTTATCTCCGGGTCTAGCAGAGGTGCCCCCGTGAGCTCCATGCTGGAGCAGAGCTGAAGGCAGAAGAGCATGACAGGTGCAGAGCAGGGCCCGGCAGGCACAGAGTAGCCCCAGCAGGCATAGAGCAGGGCCAGTGCCCTGGAGGCCTGGAGATGGCCTTGCCTTCCACCTGCTGGTCATTTCCTGGGTGTTGACTGGAGCCTGGCCTACCTGAGCTTTTCATTCATCCCACCAAGTGCAAAGCCTGTCCAGAGAAGAGACTGGGGCTGGAAGGATCTGGAGGGTGCAGGGTGAGCCTGGGAGCCAGATCCCAGACAGCCCAGGCCTCTCTGAAGATCCCAGTGGGCCCCCAGCCTGTCAGTCAGGATTAGAGCAAGGCCCCACTGGTGCTCAGTAAATATTCATGATGGCCTAGGTCCTTCCTGGGGTGCAGGGCAGGGGGCTTCACCCTGCAGAGCCAAGAGGTAGCACGGCCACCCCTAGAGTCCGGGGGGTGGCTGGGCAGCCCCCACAGGGCACTGCCTGTCCCTGGCAGCTGTGTGCAGCCCCCGCAGGGCAGCACGCGGAACTGTGGCCCAGGTGGCCGGGAGCCACCATGGACACTGTCAGAACTGCCCTTCCACTTCAGGGCCAGCCTGCCGCCCAGGGTCCAAACAGCCTTCTAGAACACGATGGACCTGGGGCCCCCCTAGCAACCACCATCTAGACCCTCAGGCCTCCTGAGGTTGCTGCCTGGCTTGTACCTTTCAGAAAACCCCTGGCATGGGGGCAGAGGTGTCACAGTCCAAGCAGCCTCACTCCTGAGAAGCCGCCAGTGTCCCCTGATTGCAGAGTGGGCAGCGCCTGGAGCTGTGGAGGAGGGTGTCTGGGGGCGGGCTGGCCCGCTGAGCAGCGCCTCTCTTCACAGGCTACAGCATGCCGGCCATAGGGATTGGAACCCTGATCTACGGGCACTGGAGCATAATGAAGTGGAACCGTGAGCGCAGGTAGGGCCCCTGGTGGGCGTTGTCTGAAAGTGCCCCCCCGGCGAGTTGTCGGGGTCCTGTAGCATTCCGCTGTTGTCTGTGCTGGCGAGGGGTGAACGGGCCCCTTGGACTTGGCTGTGCAATCCCAGGCCCCAGAAAGTGCAGATCCAGACCCAGCACTTCCACTTCTAGGCTCTGTCCTCGAGATGTCTCCATGTCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGCATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGGGAAACCCTGTCCTCGCCACCCCAAAAAATGTGTCTAGTGAGGAGGGTTGGGACCCGTGGATCCAGATTAGGACAGGATATGAGTGGGGGGCCTGCCTCGGGCCCTCTAAGCAGGATTTTGTCAGAGGTGACCAGGCTCAAACCAGACCACACCAGGCAGTGGACACACAGGGCCAGATGAACTAGGGCCAGGCGCCCCCCTCTCCCTGTGTCACAGGCTGGGCACTCCTTCCCCACCCCTCCCCCAACCCCAACGCAGGCCAGGCAGGACTGGGAGATGGGGGTCATTGCAGGGAACTTGGAAACTGCCAGAAAGCAGGGAGAAGAAAGGAAAGATTGTGGCCCCGCCTGCCCCAGCCTCACACACTGATTATTTTGAGATGAAGGGGACGTGGTTTTGTGAGGCCCAGAGCCCCGTGATGAAGTCACCCCCTCTTCGTCGCGATCATCAGGCAGAGTTATTTTTAGGATAAAAAAAGTTTTTAATTGAAAAGAAAGTAGAAAGCCAACAGTCTTGTGGGCAGTCACCCGTGCAGCTGCCTGCACCCGCCCTCCTCTCAGGCTCCTGGTGGGCTCTGCCCACAGCCCTTGCCCTTCCCGCGACCCTCGCCCTGCCCCCTGCCTGCCTCCCCGCCCCCCTCCGCCTCTTCCCCCAGCAGCACCCTGGCCCCTGAGGTCTGTGCTGCCTGTGCTCCCCCGACCTAGCCTGGTCTGACCTGAGTGTGGGTTTCGGGCTTTCACAGGCGCCTACAAATCGAGGACTTCGAGGCTCGCATCGCGCTGTTGCCACTGTTACAGGCAGAAACCGACCGGAGGTAGCACCGCAGGGGCCAAGGTTGGGAGGTCACTGGCCGGAAGGCCCCAGGCTGCAGGGCCTGACCTGCATCCCCGAAGGTGGCCAGAATGCACGTGGGGGCCATCGCCCTGTGCCGTCAGCTGCATCCTCAGGCGTGGAGACTTAGTGGAGACCCAAGGGGGCGAACCGGAAGGCTTCCTGGAGGAGGAGGCAGCACTGGGGTTGGGGCAAGAGAAAAGCTAGGAGTTGGCTGGGGGAAAAGGAGACAGGGTCGGAGGGAGGCTTGAAGGGGTGCTACTAGGGGCCCTAGGCAGGGGCCCCTCAGGGCACTGAGGCCCCACCCCCACCATCGGCCCCATCCCCACAGGACCTTGCAGATGCTTCGGGAGAACCTGGAGGAGGAGGCCATCATCATGAAGGACGTGCCCGACTGGAAGGTGGGTCCCGGCTGGGAGGGCAGAGGTGCCAGCCACGGCAGAGACAGGGCCTGGGGTTGGGGAGCTCCCACAGCTTTCTATAGAAACCCCAGGACCAAGGGGGTGGTGGGTGCCAGGTCCCACAAGGGAAGGCTGTAGCGCCTGCCACGCACAGGGGCCACTGATCCTGGGGGATGGGTCCTAGCAGGCTGTATATGGGTGGCTGTGCCTCTACCCATACCCCACTGTCCCCACAGGTGGGGGAGTCTGTGTTCCACACAACCCGCTGGGTGCCCCCCTTGATCGGGGAGCTGTACGGGCTGCGCACCACAGAGGAGGCTCTCCATGCCAGCCACGGCTTCATGTGGTACACGTAGGCCCTGTGCCCTCCGGCCACCTGGATCCCTGCCCCTCCCCACTGGGACGGAATAAATGCTCTGCAGACCTGGCCTGCCTGTTTTCCTGGGGACTGGGGGAAAGAAGGGGGAGAGG
Task1_train_26987
The gene LOC125371495, NDUFA13 (Sharpr-MPRA regulatory region 9511| NADH:ubiquinone oxidoreductase subunit A13) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Severe global developmental delay
CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTCTGCACCAGAAGGCTGAGGGCAGCCCAGGTCTGTCCCCTGGGTTCTCTGTAGCCGTGGAAAATAATGAGATATGGCCGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTGCAGGTGGATCATGAGGTCAGGAGGTCGTAACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCCGGAGGCTGAGGTGGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACCCCAGCCAGGGCAACAGAGTGAGATTCCGTCTCAAAAATAAATTAATTAAAAAAAAGAAAAGAACGAGATATGACCAGCCTGGGCAATATAGCAAGACCCCATCTGTACAAAAATTAGTTAACTGGACATGGCACACACCTGGGGTCCCAGTTACTCGGGAGGCTAAAGTGGAAGGATCACTTGAACCCAGGAGTTGGAGGCTGCATTGAGCCATGATTGCGCCCCTGCACTCCAGCCTGGGTAGCAGAGTGAGACCTTGTCTCAAAACCAAAAACCAAAAAAGGAAAAAAAAATGAACAAGGCAGCTGATGAAACCTCCCATGTGCTAGACAGGAGGCTGAGAGCTGGGAGCTGGCCCTGAGCACCCTGGGCCTCTCCAGAGATGTGCCTCTGAGCCCGGACCCAGCACACCCTCATTACCTGTAGTATGGAAATGTCTTAGCCCTGACTTGGGCTTCTAACAGGTTAAATAACCAGGTACAAATTTGAGCCAGTTTCTCATTTATCTCCGGGTCTAGCAGAGGTGCCCCCGTGAGCTCCATGCTGGAGCAGAGCTGAAGGCAGAAGAGCATGACAGGTGCAGAGCAGGGCCCGGCAGGCACAGAGTAGCCCCAGCAGGCATAGAGCAGGGCCAGTGCCCTGGAGGCCTGGAGATGGCCTTGCCTTCCACCTGCTGGTCATTTCCTGGGTGTTGACTGGAGCCTGGCCTACCTGAGCTTTTCATTCATCCCACCAAGTGCAAAGCCTGTCCAGAGAAGAGACTGGGGCTGGAAGGATCTGGAGGGTGCAGGGTGAGCCTGGGAGCCAGATCCCAGACAGCCCAGGCCTCTCTGAAGATCCCAGTGGGCCCCCAGCCTGTCAGTCAGGATTAGAGCAAGGCCCCACTGGTGCTCAGTAAATATTCATGATGGCCTAGGTCCTTCCTGGGGTGCAGGGCAGGGGGCTTCACCCTGCAGAGCCAAGAGGTAGCACGGCCACCCCTAGAGTCCGGGGGGTGGCTGGGCAGCCCCCACAGGGCACTGCCTGTCCCTGGCAGCTGTGTGCAGCCCCCGCAGGGCAGCACGCGGAACTGTGGCCCAGGTGGCCGGGAGCCACCATGGACACTGTCAGAACTGCCCTTCCACTTCAGGGCCAGCCTGCCGCCCAGGGTCCAAACAGCCTTCTAGAACACGATGGACCTGGGGCCCCCCTAGCAACCACCATCTAGACCCTCAGGCCTCCTGAGGTTGCTGCCTGGCTTGTACCTTTCAGAAAACCCCTGGCATGGGGGCAGAGGTGTCACAGTCCAAGCAGCCTCACTCCTGAGAAGCCGCCAGTGTCCCCTGATTGCAGAGTGGGCAGCGCCTGGAGCTGTGGAGGAGGGTGTCTGGGGGCGGGCTGGCCCGCTGAGCAGCGCCTCTCTTCACAGGCTACAGCATGCTGGCCATAGGGATTGGAACCCTGATCTACGGGCACTGGAGCATAATGAAGTGGAACCGTGAGCGCAGGTAGGGCCCCTGGTGGGCGTTGTCTGAAAGTGCCCCCCCGGCGAGTTGTCGGGGTCCTGTAGCATTCCGCTGTTGTCTGTGCTGGCGAGGGGTGAACGGGCCCCTTGGACTTGGCTGTGCAATCCCAGGCCCCAGAAAGTGCAGATCCAGACCCAGCACTTCCACTTCTAGGCTCTGTCCTCGAGATGTCTCCATGTCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGCATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGGGAAACCCTGTCCTCGCCACCCCAAAAAATGTGTCTAGTGAGGAGGGTTGGGACCCGTGGATCCAGATTAGGACAGGATATGAGTGGGGGGCCTGCCTCGGGCCCTCTAAGCAGGATTTTGTCAGAGGTGACCAGGCTCAAACCAGACCACACCAGGCAGTGGACACACAGGGCCAGATGAACTAGGGCCAGGCGCCCCCCTCTCCCTGTGTCACAGGCTGGGCACTCCTTCCCCACCCCTCCCCCAACCCCAACGCAGGCCAGGCAGGACTGGGAGATGGGGGTCATTGCAGGGAACTTGGAAACTGCCAGAAAGCAGGGAGAAGAAAGGAAAGATTGTGGCCCCGCCTGCCCCAGCCTCACACACTGATTATTTTGAGATGAAGGGGACGTGGTTTTGTGAGGCCCAGAGCCCCGTGATGAAGTCACCCCCTCTTCGTCGCGATCATCAGGCAGAGTTATTTTTAGGATAAAAAAAGTTTTTAATTGAAAAGAAAGTAGAAAGCCAACAGTCTTGTGGGCAGTCACCCGTGCAGCTGCCTGCACCCGCCCTCCTCTCAGGCTCCTGGTGGGCTCTGCCCACAGCCCTTGCCCTTCCCGCGACCCTCGCCCTGCCCCCTGCCTGCCTCCCCGCCCCCCTCCGCCTCTTCCCCCAGCAGCACCCTGGCCCCTGAGGTCTGTGCTGCCTGTGCTCCCCCGACCTAGCCTGGTCTGACCTGAGTGTGGGTTTCGGGCTTTCACAGGCGCCTACAAATCGAGGACTTCGAGGCTCGCATCGCGCTGTTGCCACTGTTACAGGCAGAAACCGACCGGAGGTAGCACCGCAGGGGCCAAGGTTGGGAGGTCACTGGCCGGAAGGCCCCAGGCTGCAGGGCCTGACCTGCATCCCCGAAGGTGGCCAGAATGCACGTGGGGGCCATCGCCCTGTGCCGTCAGCTGCATCCTCAGGCGTGGAGACTTAGTGGAGACCCAAGGGGGCGAACCGGAAGGCTTCCTGGAGGAGGAGGCAGCACTGGGGTTGGGGCAAGAGAAAAGCTAGGAGTTGGCTGGGGGAAAAGGAGACAGGGTCGGAGGGAGGCTTGAAGGGGTGCTACTAGGGGCCCTAGGCAGGGGCCCCTCAGGGCACTGAGGCCCCACCCCCACCATCGGCCCCATCCCCACAGGACCTTGCAGATGCTTCGGGAGAACCTGGAGGAGGAGGCCATCATCATGAAGGACGTGCCCGACTGGAAGGTGGGTCCCGGCTGGGAGGGCAGAGGTGCCAGCCACGGCAGAGACAGGGCCTGGGGTTGGGGAGCTCCCACAGCTTTCTATAGAAACCCCAGGACCAAGGGGGTGGTGGGTGCCAGGTCCCACAAGGGAAGGCTGTAGCGCCTGCCACGCACAGGGGCCACTGATCCTGGGGGATGGGTCCTAGCAGGCTGTATATGGGTGGCTGTGCCTCTACCCATACCCCACTGTCCCCACAGGTGGGGGAGTCTGTGTTCCACACAACCCGCTGGGTGCCCCCCTTGATCGGGGAGCTGTACGGGCTGCGCACCACAGAGGAGGCTCTCCATGCCAGCCACGGCTTCATGTGGTACACGTAGGCCCTGTGCCCTCCGGCCACCTGGATCCCTGCCCCTCCCCACTGGGACGGAATAAATGCTCTGCAGACCTGGCCTGCCTGTTTTCCTGGGGACTGGGGGAAAGAAGGGGGAGAGG
CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTCTGCACCAGAAGGCTGAGGGCAGCCCAGGTCTGTCCCCTGGGTTCTCTGTAGCCGTGGAAAATAATGAGATATGGCCGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTGCAGGTGGATCATGAGGTCAGGAGGTCGTAACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCCGGAGGCTGAGGTGGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACCCCAGCCAGGGCAACAGAGTGAGATTCCGTCTCAAAAATAAATTAATTAAAAAAAAGAAAAGAACGAGATATGACCAGCCTGGGCAATATAGCAAGACCCCATCTGTACAAAAATTAGTTAACTGGACATGGCACACACCTGGGGTCCCAGTTACTCGGGAGGCTAAAGTGGAAGGATCACTTGAACCCAGGAGTTGGAGGCTGCATTGAGCCATGATTGCGCCCCTGCACTCCAGCCTGGGTAGCAGAGTGAGACCTTGTCTCAAAACCAAAAACCAAAAAAGGAAAAAAAAATGAACAAGGCAGCTGATGAAACCTCCCATGTGCTAGACAGGAGGCTGAGAGCTGGGAGCTGGCCCTGAGCACCCTGGGCCTCTCCAGAGATGTGCCTCTGAGCCCGGACCCAGCACACCCTCATTACCTGTAGTATGGAAATGTCTTAGCCCTGACTTGGGCTTCTAACAGGTTAAATAACCAGGTACAAATTTGAGCCAGTTTCTCATTTATCTCCGGGTCTAGCAGAGGTGCCCCCGTGAGCTCCATGCTGGAGCAGAGCTGAAGGCAGAAGAGCATGACAGGTGCAGAGCAGGGCCCGGCAGGCACAGAGTAGCCCCAGCAGGCATAGAGCAGGGCCAGTGCCCTGGAGGCCTGGAGATGGCCTTGCCTTCCACCTGCTGGTCATTTCCTGGGTGTTGACTGGAGCCTGGCCTACCTGAGCTTTTCATTCATCCCACCAAGTGCAAAGCCTGTCCAGAGAAGAGACTGGGGCTGGAAGGATCTGGAGGGTGCAGGGTGAGCCTGGGAGCCAGATCCCAGACAGCCCAGGCCTCTCTGAAGATCCCAGTGGGCCCCCAGCCTGTCAGTCAGGATTAGAGCAAGGCCCCACTGGTGCTCAGTAAATATTCATGATGGCCTAGGTCCTTCCTGGGGTGCAGGGCAGGGGGCTTCACCCTGCAGAGCCAAGAGGTAGCACGGCCACCCCTAGAGTCCGGGGGGTGGCTGGGCAGCCCCCACAGGGCACTGCCTGTCCCTGGCAGCTGTGTGCAGCCCCCGCAGGGCAGCACGCGGAACTGTGGCCCAGGTGGCCGGGAGCCACCATGGACACTGTCAGAACTGCCCTTCCACTTCAGGGCCAGCCTGCCGCCCAGGGTCCAAACAGCCTTCTAGAACACGATGGACCTGGGGCCCCCCTAGCAACCACCATCTAGACCCTCAGGCCTCCTGAGGTTGCTGCCTGGCTTGTACCTTTCAGAAAACCCCTGGCATGGGGGCAGAGGTGTCACAGTCCAAGCAGCCTCACTCCTGAGAAGCCGCCAGTGTCCCCTGATTGCAGAGTGGGCAGCGCCTGGAGCTGTGGAGGAGGGTGTCTGGGGGCGGGCTGGCCCGCTGAGCAGCGCCTCTCTTCACAGGCTACAGCATGCCGGCCATAGGGATTGGAACCCTGATCTACGGGCACTGGAGCATAATGAAGTGGAACCGTGAGCGCAGGTAGGGCCCCTGGTGGGCGTTGTCTGAAAGTGCCCCCCCGGCGAGTTGTCGGGGTCCTGTAGCATTCCGCTGTTGTCTGTGCTGGCGAGGGGTGAACGGGCCCCTTGGACTTGGCTGTGCAATCCCAGGCCCCAGAAAGTGCAGATCCAGACCCAGCACTTCCACTTCTAGGCTCTGTCCTCGAGATGTCTCCATGTCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGCATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGGGAAACCCTGTCCTCGCCACCCCAAAAAATGTGTCTAGTGAGGAGGGTTGGGACCCGTGGATCCAGATTAGGACAGGATATGAGTGGGGGGCCTGCCTCGGGCCCTCTAAGCAGGATTTTGTCAGAGGTGACCAGGCTCAAACCAGACCACACCAGGCAGTGGACACACAGGGCCAGATGAACTAGGGCCAGGCGCCCCCCTCTCCCTGTGTCACAGGCTGGGCACTCCTTCCCCACCCCTCCCCCAACCCCAACGCAGGCCAGGCAGGACTGGGAGATGGGGGTCATTGCAGGGAACTTGGAAACTGCCAGAAAGCAGGGAGAAGAAAGGAAAGATTGTGGCCCCGCCTGCCCCAGCCTCACACACTGATTATTTTGAGATGAAGGGGACGTGGTTTTGTGAGGCCCAGAGCCCCGTGATGAAGTCACCCCCTCTTCGTCGCGATCATCAGGCAGAGTTATTTTTAGGATAAAAAAAGTTTTTAATTGAAAAGAAAGTAGAAAGCCAACAGTCTTGTGGGCAGTCACCCGTGCAGCTGCCTGCACCCGCCCTCCTCTCAGGCTCCTGGTGGGCTCTGCCCACAGCCCTTGCCCTTCCCGCGACCCTCGCCCTGCCCCCTGCCTGCCTCCCCGCCCCCCTCCGCCTCTTCCCCCAGCAGCACCCTGGCCCCTGAGGTCTGTGCTGCCTGTGCTCCCCCGACCTAGCCTGGTCTGACCTGAGTGTGGGTTTCGGGCTTTCACAGGCGCCTACAAATCGAGGACTTCGAGGCTCGCATCGCGCTGTTGCCACTGTTACAGGCAGAAACCGACCGGAGGTAGCACCGCAGGGGCCAAGGTTGGGAGGTCACTGGCCGGAAGGCCCCAGGCTGCAGGGCCTGACCTGCATCCCCGAAGGTGGCCAGAATGCACGTGGGGGCCATCGCCCTGTGCCGTCAGCTGCATCCTCAGGCGTGGAGACTTAGTGGAGACCCAAGGGGGCGAACCGGAAGGCTTCCTGGAGGAGGAGGCAGCACTGGGGTTGGGGCAAGAGAAAAGCTAGGAGTTGGCTGGGGGAAAAGGAGACAGGGTCGGAGGGAGGCTTGAAGGGGTGCTACTAGGGGCCCTAGGCAGGGGCCCCTCAGGGCACTGAGGCCCCACCCCCACCATCGGCCCCATCCCCACAGGACCTTGCAGATGCTTCGGGAGAACCTGGAGGAGGAGGCCATCATCATGAAGGACGTGCCCGACTGGAAGGTGGGTCCCGGCTGGGAGGGCAGAGGTGCCAGCCACGGCAGAGACAGGGCCTGGGGTTGGGGAGCTCCCACAGCTTTCTATAGAAACCCCAGGACCAAGGGGGTGGTGGGTGCCAGGTCCCACAAGGGAAGGCTGTAGCGCCTGCCACGCACAGGGGCCACTGATCCTGGGGGATGGGTCCTAGCAGGCTGTATATGGGTGGCTGTGCCTCTACCCATACCCCACTGTCCCCACAGGTGGGGGAGTCTGTGTTCCACACAACCCGCTGGGTGCCCCCCTTGATCGGGGAGCTGTACGGGCTGCGCACCACAGAGGAGGCTCTCCATGCCAGCCACGGCTTCATGTGGTACACGTAGGCCCTGTGCCCTCCGGCCACCTGGATCCCTGCCCCTCCCCACTGGGACGGAATAAATGCTCTGCAGACCTGGCCTGCCTGTTTTCCTGGGGACTGGGGGAAAGAAGGGGGAGAGG
Task1_train_26988
This mutation occurs in LOC125371495, NDUFA13 (Sharpr-MPRA regulatory region 9511| NADH:ubiquinone oxidoreductase subunit A13) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Decreased activity of mitochondrial complex I
CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTCTGCACCAGAAGGCTGAGGGCAGCCCAGGTCTGTCCCCTGGGTTCTCTGTAGCCGTGGAAAATAATGAGATATGGCCGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTGCAGGTGGATCATGAGGTCAGGAGGTCGTAACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCCGGAGGCTGAGGTGGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACCCCAGCCAGGGCAACAGAGTGAGATTCCGTCTCAAAAATAAATTAATTAAAAAAAAGAAAAGAACGAGATATGACCAGCCTGGGCAATATAGCAAGACCCCATCTGTACAAAAATTAGTTAACTGGACATGGCACACACCTGGGGTCCCAGTTACTCGGGAGGCTAAAGTGGAAGGATCACTTGAACCCAGGAGTTGGAGGCTGCATTGAGCCATGATTGCGCCCCTGCACTCCAGCCTGGGTAGCAGAGTGAGACCTTGTCTCAAAACCAAAAACCAAAAAAGGAAAAAAAAATGAACAAGGCAGCTGATGAAACCTCCCATGTGCTAGACAGGAGGCTGAGAGCTGGGAGCTGGCCCTGAGCACCCTGGGCCTCTCCAGAGATGTGCCTCTGAGCCCGGACCCAGCACACCCTCATTACCTGTAGTATGGAAATGTCTTAGCCCTGACTTGGGCTTCTAACAGGTTAAATAACCAGGTACAAATTTGAGCCAGTTTCTCATTTATCTCCGGGTCTAGCAGAGGTGCCCCCGTGAGCTCCATGCTGGAGCAGAGCTGAAGGCAGAAGAGCATGACAGGTGCAGAGCAGGGCCCGGCAGGCACAGAGTAGCCCCAGCAGGCATAGAGCAGGGCCAGTGCCCTGGAGGCCTGGAGATGGCCTTGCCTTCCACCTGCTGGTCATTTCCTGGGTGTTGACTGGAGCCTGGCCTACCTGAGCTTTTCATTCATCCCACCAAGTGCAAAGCCTGTCCAGAGAAGAGACTGGGGCTGGAAGGATCTGGAGGGTGCAGGGTGAGCCTGGGAGCCAGATCCCAGACAGCCCAGGCCTCTCTGAAGATCCCAGTGGGCCCCCAGCCTGTCAGTCAGGATTAGAGCAAGGCCCCACTGGTGCTCAGTAAATATTCATGATGGCCTAGGTCCTTCCTGGGGTGCAGGGCAGGGGGCTTCACCCTGCAGAGCCAAGAGGTAGCACGGCCACCCCTAGAGTCCGGGGGGTGGCTGGGCAGCCCCCACAGGGCACTGCCTGTCCCTGGCAGCTGTGTGCAGCCCCCGCAGGGCAGCACGCGGAACTGTGGCCCAGGTGGCCGGGAGCCACCATGGACACTGTCAGAACTGCCCTTCCACTTCAGGGCCAGCCTGCCGCCCAGGGTCCAAACAGCCTTCTAGAACACGATGGACCTGGGGCCCCCCTAGCAACCACCATCTAGACCCTCAGGCCTCCTGAGGTTGCTGCCTGGCTTGTACCTTTCAGAAAACCCCTGGCATGGGGGCAGAGGTGTCACAGTCCAAGCAGCCTCACTCCTGAGAAGCCGCCAGTGTCCCCTGATTGCAGAGTGGGCAGCGCCTGGAGCTGTGGAGGAGGGTGTCTGGGGGCGGGCTGGCCCGCTGAGCAGCGCCTCTCTTCACAGGCTACAGCATGCTGGCCATAGGGATTGGAACCCTGATCTACGGGCACTGGAGCATAATGAAGTGGAACCGTGAGCGCAGGTAGGGCCCCTGGTGGGCGTTGTCTGAAAGTGCCCCCCCGGCGAGTTGTCGGGGTCCTGTAGCATTCCGCTGTTGTCTGTGCTGGCGAGGGGTGAACGGGCCCCTTGGACTTGGCTGTGCAATCCCAGGCCCCAGAAAGTGCAGATCCAGACCCAGCACTTCCACTTCTAGGCTCTGTCCTCGAGATGTCTCCATGTCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGCATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGGGAAACCCTGTCCTCGCCACCCCAAAAAATGTGTCTAGTGAGGAGGGTTGGGACCCGTGGATCCAGATTAGGACAGGATATGAGTGGGGGGCCTGCCTCGGGCCCTCTAAGCAGGATTTTGTCAGAGGTGACCAGGCTCAAACCAGACCACACCAGGCAGTGGACACACAGGGCCAGATGAACTAGGGCCAGGCGCCCCCCTCTCCCTGTGTCACAGGCTGGGCACTCCTTCCCCACCCCTCCCCCAACCCCAACGCAGGCCAGGCAGGACTGGGAGATGGGGGTCATTGCAGGGAACTTGGAAACTGCCAGAAAGCAGGGAGAAGAAAGGAAAGATTGTGGCCCCGCCTGCCCCAGCCTCACACACTGATTATTTTGAGATGAAGGGGACGTGGTTTTGTGAGGCCCAGAGCCCCGTGATGAAGTCACCCCCTCTTCGTCGCGATCATCAGGCAGAGTTATTTTTAGGATAAAAAAAGTTTTTAATTGAAAAGAAAGTAGAAAGCCAACAGTCTTGTGGGCAGTCACCCGTGCAGCTGCCTGCACCCGCCCTCCTCTCAGGCTCCTGGTGGGCTCTGCCCACAGCCCTTGCCCTTCCCGCGACCCTCGCCCTGCCCCCTGCCTGCCTCCCCGCCCCCCTCCGCCTCTTCCCCCAGCAGCACCCTGGCCCCTGAGGTCTGTGCTGCCTGTGCTCCCCCGACCTAGCCTGGTCTGACCTGAGTGTGGGTTTCGGGCTTTCACAGGCGCCTACAAATCGAGGACTTCGAGGCTCGCATCGCGCTGTTGCCACTGTTACAGGCAGAAACCGACCGGAGGTAGCACCGCAGGGGCCAAGGTTGGGAGGTCACTGGCCGGAAGGCCCCAGGCTGCAGGGCCTGACCTGCATCCCCGAAGGTGGCCAGAATGCACGTGGGGGCCATCGCCCTGTGCCGTCAGCTGCATCCTCAGGCGTGGAGACTTAGTGGAGACCCAAGGGGGCGAACCGGAAGGCTTCCTGGAGGAGGAGGCAGCACTGGGGTTGGGGCAAGAGAAAAGCTAGGAGTTGGCTGGGGGAAAAGGAGACAGGGTCGGAGGGAGGCTTGAAGGGGTGCTACTAGGGGCCCTAGGCAGGGGCCCCTCAGGGCACTGAGGCCCCACCCCCACCATCGGCCCCATCCCCACAGGACCTTGCAGATGCTTCGGGAGAACCTGGAGGAGGAGGCCATCATCATGAAGGACGTGCCCGACTGGAAGGTGGGTCCCGGCTGGGAGGGCAGAGGTGCCAGCCACGGCAGAGACAGGGCCTGGGGTTGGGGAGCTCCCACAGCTTTCTATAGAAACCCCAGGACCAAGGGGGTGGTGGGTGCCAGGTCCCACAAGGGAAGGCTGTAGCGCCTGCCACGCACAGGGGCCACTGATCCTGGGGGATGGGTCCTAGCAGGCTGTATATGGGTGGCTGTGCCTCTACCCATACCCCACTGTCCCCACAGGTGGGGGAGTCTGTGTTCCACACAACCCGCTGGGTGCCCCCCTTGATCGGGGAGCTGTACGGGCTGCGCACCACAGAGGAGGCTCTCCATGCCAGCCACGGCTTCATGTGGTACACGTAGGCCCTGTGCCCTCCGGCCACCTGGATCCCTGCCCCTCCCCACTGGGACGGAATAAATGCTCTGCAGACCTGGCCTGCCTGTTTTCCTGGGGACTGGGGGAAAGAAGGGGGAGAGG
CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTCTGCACCAGAAGGCTGAGGGCAGCCCAGGTCTGTCCCCTGGGTTCTCTGTAGCCGTGGAAAATAATGAGATATGGCCGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTGCAGGTGGATCATGAGGTCAGGAGGTCGTAACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCCGGAGGCTGAGGTGGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACCCCAGCCAGGGCAACAGAGTGAGATTCCGTCTCAAAAATAAATTAATTAAAAAAAAGAAAAGAACGAGATATGACCAGCCTGGGCAATATAGCAAGACCCCATCTGTACAAAAATTAGTTAACTGGACATGGCACACACCTGGGGTCCCAGTTACTCGGGAGGCTAAAGTGGAAGGATCACTTGAACCCAGGAGTTGGAGGCTGCATTGAGCCATGATTGCGCCCCTGCACTCCAGCCTGGGTAGCAGAGTGAGACCTTGTCTCAAAACCAAAAACCAAAAAAGGAAAAAAAAATGAACAAGGCAGCTGATGAAACCTCCCATGTGCTAGACAGGAGGCTGAGAGCTGGGAGCTGGCCCTGAGCACCCTGGGCCTCTCCAGAGATGTGCCTCTGAGCCCGGACCCAGCACACCCTCATTACCTGTAGTATGGAAATGTCTTAGCCCTGACTTGGGCTTCTAACAGGTTAAATAACCAGGTACAAATTTGAGCCAGTTTCTCATTTATCTCCGGGTCTAGCAGAGGTGCCCCCGTGAGCTCCATGCTGGAGCAGAGCTGAAGGCAGAAGAGCATGACAGGTGCAGAGCAGGGCCCGGCAGGCACAGAGTAGCCCCAGCAGGCATAGAGCAGGGCCAGTGCCCTGGAGGCCTGGAGATGGCCTTGCCTTCCACCTGCTGGTCATTTCCTGGGTGTTGACTGGAGCCTGGCCTACCTGAGCTTTTCATTCATCCCACCAAGTGCAAAGCCTGTCCAGAGAAGAGACTGGGGCTGGAAGGATCTGGAGGGTGCAGGGTGAGCCTGGGAGCCAGATCCCAGACAGCCCAGGCCTCTCTGAAGATCCCAGTGGGCCCCCAGCCTGTCAGTCAGGATTAGAGCAAGGCCCCACTGGTGCTCAGTAAATATTCATGATGGCCTAGGTCCTTCCTGGGGTGCAGGGCAGGGGGCTTCACCCTGCAGAGCCAAGAGGTAGCACGGCCACCCCTAGAGTCCGGGGGGTGGCTGGGCAGCCCCCACAGGGCACTGCCTGTCCCTGGCAGCTGTGTGCAGCCCCCGCAGGGCAGCACGCGGAACTGTGGCCCAGGTGGCCGGGAGCCACCATGGACACTGTCAGAACTGCCCTTCCACTTCAGGGCCAGCCTGCCGCCCAGGGTCCAAACAGCCTTCTAGAACACGATGGACCTGGGGCCCCCCTAGCAACCACCATCTAGACCCTCAGGCCTCCTGAGGTTGCTGCCTGGCTTGTACCTTTCAGAAAACCCCTGGCATGGGGGCAGAGGTGTCACAGTCCAAGCAGCCTCACTCCTGAGAAGCCGCCAGTGTCCCCTGATTGCAGAGTGGGCAGCGCCTGGAGCTGTGGAGGAGGGTGTCTGGGGGCGGGCTGGCCCGCTGAGCAGCGCCTCTCTTCACAGGCTACAGCATGCCGGCCATAGGGATTGGAACCCTGATCTACGGGCACTGGAGCATAATGAAGTGGAACCGTGAGCGCAGGTAGGGCCCCTGGTGGGCGTTGTCTGAAAGTGCCCCCCCGGCGAGTTGTCGGGGTCCTGTAGCATTCCGCTGTTGTCTGTGCTGGCGAGGGGTGAACGGGCCCCTTGGACTTGGCTGTGCAATCCCAGGCCCCAGAAAGTGCAGATCCAGACCCAGCACTTCCACTTCTAGGCTCTGTCCTCGAGATGTCTCCATGTCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGCATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGGGAAACCCTGTCCTCGCCACCCCAAAAAATGTGTCTAGTGAGGAGGGTTGGGACCCGTGGATCCAGATTAGGACAGGATATGAGTGGGGGGCCTGCCTCGGGCCCTCTAAGCAGGATTTTGTCAGAGGTGACCAGGCTCAAACCAGACCACACCAGGCAGTGGACACACAGGGCCAGATGAACTAGGGCCAGGCGCCCCCCTCTCCCTGTGTCACAGGCTGGGCACTCCTTCCCCACCCCTCCCCCAACCCCAACGCAGGCCAGGCAGGACTGGGAGATGGGGGTCATTGCAGGGAACTTGGAAACTGCCAGAAAGCAGGGAGAAGAAAGGAAAGATTGTGGCCCCGCCTGCCCCAGCCTCACACACTGATTATTTTGAGATGAAGGGGACGTGGTTTTGTGAGGCCCAGAGCCCCGTGATGAAGTCACCCCCTCTTCGTCGCGATCATCAGGCAGAGTTATTTTTAGGATAAAAAAAGTTTTTAATTGAAAAGAAAGTAGAAAGCCAACAGTCTTGTGGGCAGTCACCCGTGCAGCTGCCTGCACCCGCCCTCCTCTCAGGCTCCTGGTGGGCTCTGCCCACAGCCCTTGCCCTTCCCGCGACCCTCGCCCTGCCCCCTGCCTGCCTCCCCGCCCCCCTCCGCCTCTTCCCCCAGCAGCACCCTGGCCCCTGAGGTCTGTGCTGCCTGTGCTCCCCCGACCTAGCCTGGTCTGACCTGAGTGTGGGTTTCGGGCTTTCACAGGCGCCTACAAATCGAGGACTTCGAGGCTCGCATCGCGCTGTTGCCACTGTTACAGGCAGAAACCGACCGGAGGTAGCACCGCAGGGGCCAAGGTTGGGAGGTCACTGGCCGGAAGGCCCCAGGCTGCAGGGCCTGACCTGCATCCCCGAAGGTGGCCAGAATGCACGTGGGGGCCATCGCCCTGTGCCGTCAGCTGCATCCTCAGGCGTGGAGACTTAGTGGAGACCCAAGGGGGCGAACCGGAAGGCTTCCTGGAGGAGGAGGCAGCACTGGGGTTGGGGCAAGAGAAAAGCTAGGAGTTGGCTGGGGGAAAAGGAGACAGGGTCGGAGGGAGGCTTGAAGGGGTGCTACTAGGGGCCCTAGGCAGGGGCCCCTCAGGGCACTGAGGCCCCACCCCCACCATCGGCCCCATCCCCACAGGACCTTGCAGATGCTTCGGGAGAACCTGGAGGAGGAGGCCATCATCATGAAGGACGTGCCCGACTGGAAGGTGGGTCCCGGCTGGGAGGGCAGAGGTGCCAGCCACGGCAGAGACAGGGCCTGGGGTTGGGGAGCTCCCACAGCTTTCTATAGAAACCCCAGGACCAAGGGGGTGGTGGGTGCCAGGTCCCACAAGGGAAGGCTGTAGCGCCTGCCACGCACAGGGGCCACTGATCCTGGGGGATGGGTCCTAGCAGGCTGTATATGGGTGGCTGTGCCTCTACCCATACCCCACTGTCCCCACAGGTGGGGGAGTCTGTGTTCCACACAACCCGCTGGGTGCCCCCCTTGATCGGGGAGCTGTACGGGCTGCGCACCACAGAGGAGGCTCTCCATGCCAGCCACGGCTTCATGTGGTACACGTAGGCCCTGTGCCCTCCGGCCACCTGGATCCCTGCCCCTCCCCACTGGGACGGAATAAATGCTCTGCAGACCTGGCCTGCCTGTTTTCCTGGGGACTGGGGGAAAGAAGGGGGAGAGG
Task1_train_26989
The gene LOC125371495, NDUFA13 (Sharpr-MPRA regulatory region 9511| NADH:ubiquinone oxidoreductase subunit A13), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Nystagmus
CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTCTGCACCAGAAGGCTGAGGGCAGCCCAGGTCTGTCCCCTGGGTTCTCTGTAGCCGTGGAAAATAATGAGATATGGCCGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTGCAGGTGGATCATGAGGTCAGGAGGTCGTAACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCCGGAGGCTGAGGTGGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACCCCAGCCAGGGCAACAGAGTGAGATTCCGTCTCAAAAATAAATTAATTAAAAAAAAGAAAAGAACGAGATATGACCAGCCTGGGCAATATAGCAAGACCCCATCTGTACAAAAATTAGTTAACTGGACATGGCACACACCTGGGGTCCCAGTTACTCGGGAGGCTAAAGTGGAAGGATCACTTGAACCCAGGAGTTGGAGGCTGCATTGAGCCATGATTGCGCCCCTGCACTCCAGCCTGGGTAGCAGAGTGAGACCTTGTCTCAAAACCAAAAACCAAAAAAGGAAAAAAAAATGAACAAGGCAGCTGATGAAACCTCCCATGTGCTAGACAGGAGGCTGAGAGCTGGGAGCTGGCCCTGAGCACCCTGGGCCTCTCCAGAGATGTGCCTCTGAGCCCGGACCCAGCACACCCTCATTACCTGTAGTATGGAAATGTCTTAGCCCTGACTTGGGCTTCTAACAGGTTAAATAACCAGGTACAAATTTGAGCCAGTTTCTCATTTATCTCCGGGTCTAGCAGAGGTGCCCCCGTGAGCTCCATGCTGGAGCAGAGCTGAAGGCAGAAGAGCATGACAGGTGCAGAGCAGGGCCCGGCAGGCACAGAGTAGCCCCAGCAGGCATAGAGCAGGGCCAGTGCCCTGGAGGCCTGGAGATGGCCTTGCCTTCCACCTGCTGGTCATTTCCTGGGTGTTGACTGGAGCCTGGCCTACCTGAGCTTTTCATTCATCCCACCAAGTGCAAAGCCTGTCCAGAGAAGAGACTGGGGCTGGAAGGATCTGGAGGGTGCAGGGTGAGCCTGGGAGCCAGATCCCAGACAGCCCAGGCCTCTCTGAAGATCCCAGTGGGCCCCCAGCCTGTCAGTCAGGATTAGAGCAAGGCCCCACTGGTGCTCAGTAAATATTCATGATGGCCTAGGTCCTTCCTGGGGTGCAGGGCAGGGGGCTTCACCCTGCAGAGCCAAGAGGTAGCACGGCCACCCCTAGAGTCCGGGGGGTGGCTGGGCAGCCCCCACAGGGCACTGCCTGTCCCTGGCAGCTGTGTGCAGCCCCCGCAGGGCAGCACGCGGAACTGTGGCCCAGGTGGCCGGGAGCCACCATGGACACTGTCAGAACTGCCCTTCCACTTCAGGGCCAGCCTGCCGCCCAGGGTCCAAACAGCCTTCTAGAACACGATGGACCTGGGGCCCCCCTAGCAACCACCATCTAGACCCTCAGGCCTCCTGAGGTTGCTGCCTGGCTTGTACCTTTCAGAAAACCCCTGGCATGGGGGCAGAGGTGTCACAGTCCAAGCAGCCTCACTCCTGAGAAGCCGCCAGTGTCCCCTGATTGCAGAGTGGGCAGCGCCTGGAGCTGTGGAGGAGGGTGTCTGGGGGCGGGCTGGCCCGCTGAGCAGCGCCTCTCTTCACAGGCTACAGCATGCTGGCCATAGGGATTGGAACCCTGATCTACGGGCACTGGAGCATAATGAAGTGGAACCGTGAGCGCAGGTAGGGCCCCTGGTGGGCGTTGTCTGAAAGTGCCCCCCCGGCGAGTTGTCGGGGTCCTGTAGCATTCCGCTGTTGTCTGTGCTGGCGAGGGGTGAACGGGCCCCTTGGACTTGGCTGTGCAATCCCAGGCCCCAGAAAGTGCAGATCCAGACCCAGCACTTCCACTTCTAGGCTCTGTCCTCGAGATGTCTCCATGTCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGCATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGGGAAACCCTGTCCTCGCCACCCCAAAAAATGTGTCTAGTGAGGAGGGTTGGGACCCGTGGATCCAGATTAGGACAGGATATGAGTGGGGGGCCTGCCTCGGGCCCTCTAAGCAGGATTTTGTCAGAGGTGACCAGGCTCAAACCAGACCACACCAGGCAGTGGACACACAGGGCCAGATGAACTAGGGCCAGGCGCCCCCCTCTCCCTGTGTCACAGGCTGGGCACTCCTTCCCCACCCCTCCCCCAACCCCAACGCAGGCCAGGCAGGACTGGGAGATGGGGGTCATTGCAGGGAACTTGGAAACTGCCAGAAAGCAGGGAGAAGAAAGGAAAGATTGTGGCCCCGCCTGCCCCAGCCTCACACACTGATTATTTTGAGATGAAGGGGACGTGGTTTTGTGAGGCCCAGAGCCCCGTGATGAAGTCACCCCCTCTTCGTCGCGATCATCAGGCAGAGTTATTTTTAGGATAAAAAAAGTTTTTAATTGAAAAGAAAGTAGAAAGCCAACAGTCTTGTGGGCAGTCACCCGTGCAGCTGCCTGCACCCGCCCTCCTCTCAGGCTCCTGGTGGGCTCTGCCCACAGCCCTTGCCCTTCCCGCGACCCTCGCCCTGCCCCCTGCCTGCCTCCCCGCCCCCCTCCGCCTCTTCCCCCAGCAGCACCCTGGCCCCTGAGGTCTGTGCTGCCTGTGCTCCCCCGACCTAGCCTGGTCTGACCTGAGTGTGGGTTTCGGGCTTTCACAGGCGCCTACAAATCGAGGACTTCGAGGCTCGCATCGCGCTGTTGCCACTGTTACAGGCAGAAACCGACCGGAGGTAGCACCGCAGGGGCCAAGGTTGGGAGGTCACTGGCCGGAAGGCCCCAGGCTGCAGGGCCTGACCTGCATCCCCGAAGGTGGCCAGAATGCACGTGGGGGCCATCGCCCTGTGCCGTCAGCTGCATCCTCAGGCGTGGAGACTTAGTGGAGACCCAAGGGGGCGAACCGGAAGGCTTCCTGGAGGAGGAGGCAGCACTGGGGTTGGGGCAAGAGAAAAGCTAGGAGTTGGCTGGGGGAAAAGGAGACAGGGTCGGAGGGAGGCTTGAAGGGGTGCTACTAGGGGCCCTAGGCAGGGGCCCCTCAGGGCACTGAGGCCCCACCCCCACCATCGGCCCCATCCCCACAGGACCTTGCAGATGCTTCGGGAGAACCTGGAGGAGGAGGCCATCATCATGAAGGACGTGCCCGACTGGAAGGTGGGTCCCGGCTGGGAGGGCAGAGGTGCCAGCCACGGCAGAGACAGGGCCTGGGGTTGGGGAGCTCCCACAGCTTTCTATAGAAACCCCAGGACCAAGGGGGTGGTGGGTGCCAGGTCCCACAAGGGAAGGCTGTAGCGCCTGCCACGCACAGGGGCCACTGATCCTGGGGGATGGGTCCTAGCAGGCTGTATATGGGTGGCTGTGCCTCTACCCATACCCCACTGTCCCCACAGGTGGGGGAGTCTGTGTTCCACACAACCCGCTGGGTGCCCCCCTTGATCGGGGAGCTGTACGGGCTGCGCACCACAGAGGAGGCTCTCCATGCCAGCCACGGCTTCATGTGGTACACGTAGGCCCTGTGCCCTCCGGCCACCTGGATCCCTGCCCCTCCCCACTGGGACGGAATAAATGCTCTGCAGACCTGGCCTGCCTGTTTTCCTGGGGACTGGGGGAAAGAAGGGGGAGAGG
CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTCTGCACCAGAAGGCTGAGGGCAGCCCAGGTCTGTCCCCTGGGTTCTCTGTAGCCGTGGAAAATAATGAGATATGGCCGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTGCAGGTGGATCATGAGGTCAGGAGGTCGTAACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCCGGAGGCTGAGGTGGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACCCCAGCCAGGGCAACAGAGTGAGATTCCGTCTCAAAAATAAATTAATTAAAAAAAAGAAAAGAACGAGATATGACCAGCCTGGGCAATATAGCAAGACCCCATCTGTACAAAAATTAGTTAACTGGACATGGCACACACCTGGGGTCCCAGTTACTCGGGAGGCTAAAGTGGAAGGATCACTTGAACCCAGGAGTTGGAGGCTGCATTGAGCCATGATTGCGCCCCTGCACTCCAGCCTGGGTAGCAGAGTGAGACCTTGTCTCAAAACCAAAAACCAAAAAAGGAAAAAAAAATGAACAAGGCAGCTGATGAAACCTCCCATGTGCTAGACAGGAGGCTGAGAGCTGGGAGCTGGCCCTGAGCACCCTGGGCCTCTCCAGAGATGTGCCTCTGAGCCCGGACCCAGCACACCCTCATTACCTGTAGTATGGAAATGTCTTAGCCCTGACTTGGGCTTCTAACAGGTTAAATAACCAGGTACAAATTTGAGCCAGTTTCTCATTTATCTCCGGGTCTAGCAGAGGTGCCCCCGTGAGCTCCATGCTGGAGCAGAGCTGAAGGCAGAAGAGCATGACAGGTGCAGAGCAGGGCCCGGCAGGCACAGAGTAGCCCCAGCAGGCATAGAGCAGGGCCAGTGCCCTGGAGGCCTGGAGATGGCCTTGCCTTCCACCTGCTGGTCATTTCCTGGGTGTTGACTGGAGCCTGGCCTACCTGAGCTTTTCATTCATCCCACCAAGTGCAAAGCCTGTCCAGAGAAGAGACTGGGGCTGGAAGGATCTGGAGGGTGCAGGGTGAGCCTGGGAGCCAGATCCCAGACAGCCCAGGCCTCTCTGAAGATCCCAGTGGGCCCCCAGCCTGTCAGTCAGGATTAGAGCAAGGCCCCACTGGTGCTCAGTAAATATTCATGATGGCCTAGGTCCTTCCTGGGGTGCAGGGCAGGGGGCTTCACCCTGCAGAGCCAAGAGGTAGCACGGCCACCCCTAGAGTCCGGGGGGTGGCTGGGCAGCCCCCACAGGGCACTGCCTGTCCCTGGCAGCTGTGTGCAGCCCCCGCAGGGCAGCACGCGGAACTGTGGCCCAGGTGGCCGGGAGCCACCATGGACACTGTCAGAACTGCCCTTCCACTTCAGGGCCAGCCTGCCGCCCAGGGTCCAAACAGCCTTCTAGAACACGATGGACCTGGGGCCCCCCTAGCAACCACCATCTAGACCCTCAGGCCTCCTGAGGTTGCTGCCTGGCTTGTACCTTTCAGAAAACCCCTGGCATGGGGGCAGAGGTGTCACAGTCCAAGCAGCCTCACTCCTGAGAAGCCGCCAGTGTCCCCTGATTGCAGAGTGGGCAGCGCCTGGAGCTGTGGAGGAGGGTGTCTGGGGGCGGGCTGGCCCGCTGAGCAGCGCCTCTCTTCACAGGCTACAGCATGCCGGCCATAGGGATTGGAACCCTGATCTACGGGCACTGGAGCATAATGAAGTGGAACCGTGAGCGCAGGTAGGGCCCCTGGTGGGCGTTGTCTGAAAGTGCCCCCCCGGCGAGTTGTCGGGGTCCTGTAGCATTCCGCTGTTGTCTGTGCTGGCGAGGGGTGAACGGGCCCCTTGGACTTGGCTGTGCAATCCCAGGCCCCAGAAAGTGCAGATCCAGACCCAGCACTTCCACTTCTAGGCTCTGTCCTCGAGATGTCTCCATGTCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGCATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGGGAAACCCTGTCCTCGCCACCCCAAAAAATGTGTCTAGTGAGGAGGGTTGGGACCCGTGGATCCAGATTAGGACAGGATATGAGTGGGGGGCCTGCCTCGGGCCCTCTAAGCAGGATTTTGTCAGAGGTGACCAGGCTCAAACCAGACCACACCAGGCAGTGGACACACAGGGCCAGATGAACTAGGGCCAGGCGCCCCCCTCTCCCTGTGTCACAGGCTGGGCACTCCTTCCCCACCCCTCCCCCAACCCCAACGCAGGCCAGGCAGGACTGGGAGATGGGGGTCATTGCAGGGAACTTGGAAACTGCCAGAAAGCAGGGAGAAGAAAGGAAAGATTGTGGCCCCGCCTGCCCCAGCCTCACACACTGATTATTTTGAGATGAAGGGGACGTGGTTTTGTGAGGCCCAGAGCCCCGTGATGAAGTCACCCCCTCTTCGTCGCGATCATCAGGCAGAGTTATTTTTAGGATAAAAAAAGTTTTTAATTGAAAAGAAAGTAGAAAGCCAACAGTCTTGTGGGCAGTCACCCGTGCAGCTGCCTGCACCCGCCCTCCTCTCAGGCTCCTGGTGGGCTCTGCCCACAGCCCTTGCCCTTCCCGCGACCCTCGCCCTGCCCCCTGCCTGCCTCCCCGCCCCCCTCCGCCTCTTCCCCCAGCAGCACCCTGGCCCCTGAGGTCTGTGCTGCCTGTGCTCCCCCGACCTAGCCTGGTCTGACCTGAGTGTGGGTTTCGGGCTTTCACAGGCGCCTACAAATCGAGGACTTCGAGGCTCGCATCGCGCTGTTGCCACTGTTACAGGCAGAAACCGACCGGAGGTAGCACCGCAGGGGCCAAGGTTGGGAGGTCACTGGCCGGAAGGCCCCAGGCTGCAGGGCCTGACCTGCATCCCCGAAGGTGGCCAGAATGCACGTGGGGGCCATCGCCCTGTGCCGTCAGCTGCATCCTCAGGCGTGGAGACTTAGTGGAGACCCAAGGGGGCGAACCGGAAGGCTTCCTGGAGGAGGAGGCAGCACTGGGGTTGGGGCAAGAGAAAAGCTAGGAGTTGGCTGGGGGAAAAGGAGACAGGGTCGGAGGGAGGCTTGAAGGGGTGCTACTAGGGGCCCTAGGCAGGGGCCCCTCAGGGCACTGAGGCCCCACCCCCACCATCGGCCCCATCCCCACAGGACCTTGCAGATGCTTCGGGAGAACCTGGAGGAGGAGGCCATCATCATGAAGGACGTGCCCGACTGGAAGGTGGGTCCCGGCTGGGAGGGCAGAGGTGCCAGCCACGGCAGAGACAGGGCCTGGGGTTGGGGAGCTCCCACAGCTTTCTATAGAAACCCCAGGACCAAGGGGGTGGTGGGTGCCAGGTCCCACAAGGGAAGGCTGTAGCGCCTGCCACGCACAGGGGCCACTGATCCTGGGGGATGGGTCCTAGCAGGCTGTATATGGGTGGCTGTGCCTCTACCCATACCCCACTGTCCCCACAGGTGGGGGAGTCTGTGTTCCACACAACCCGCTGGGTGCCCCCCTTGATCGGGGAGCTGTACGGGCTGCGCACCACAGAGGAGGCTCTCCATGCCAGCCACGGCTTCATGTGGTACACGTAGGCCCTGTGCCCTCCGGCCACCTGGATCCCTGCCCCTCCCCACTGGGACGGAATAAATGCTCTGCAGACCTGGCCTGCCTGTTTTCCTGGGGACTGGGGGAAAGAAGGGGGAGAGG
Task1_train_26990
A variant affecting Chromosome 19, within the gene LOC125371495, NDUFA13 (Sharpr-MPRA regulatory region 9511| NADH:ubiquinone oxidoreductase subunit A13), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Lactic acidosis
CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTCTGCACCAGAAGGCTGAGGGCAGCCCAGGTCTGTCCCCTGGGTTCTCTGTAGCCGTGGAAAATAATGAGATATGGCCGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTGCAGGTGGATCATGAGGTCAGGAGGTCGTAACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCCGGAGGCTGAGGTGGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACCCCAGCCAGGGCAACAGAGTGAGATTCCGTCTCAAAAATAAATTAATTAAAAAAAAGAAAAGAACGAGATATGACCAGCCTGGGCAATATAGCAAGACCCCATCTGTACAAAAATTAGTTAACTGGACATGGCACACACCTGGGGTCCCAGTTACTCGGGAGGCTAAAGTGGAAGGATCACTTGAACCCAGGAGTTGGAGGCTGCATTGAGCCATGATTGCGCCCCTGCACTCCAGCCTGGGTAGCAGAGTGAGACCTTGTCTCAAAACCAAAAACCAAAAAAGGAAAAAAAAATGAACAAGGCAGCTGATGAAACCTCCCATGTGCTAGACAGGAGGCTGAGAGCTGGGAGCTGGCCCTGAGCACCCTGGGCCTCTCCAGAGATGTGCCTCTGAGCCCGGACCCAGCACACCCTCATTACCTGTAGTATGGAAATGTCTTAGCCCTGACTTGGGCTTCTAACAGGTTAAATAACCAGGTACAAATTTGAGCCAGTTTCTCATTTATCTCCGGGTCTAGCAGAGGTGCCCCCGTGAGCTCCATGCTGGAGCAGAGCTGAAGGCAGAAGAGCATGACAGGTGCAGAGCAGGGCCCGGCAGGCACAGAGTAGCCCCAGCAGGCATAGAGCAGGGCCAGTGCCCTGGAGGCCTGGAGATGGCCTTGCCTTCCACCTGCTGGTCATTTCCTGGGTGTTGACTGGAGCCTGGCCTACCTGAGCTTTTCATTCATCCCACCAAGTGCAAAGCCTGTCCAGAGAAGAGACTGGGGCTGGAAGGATCTGGAGGGTGCAGGGTGAGCCTGGGAGCCAGATCCCAGACAGCCCAGGCCTCTCTGAAGATCCCAGTGGGCCCCCAGCCTGTCAGTCAGGATTAGAGCAAGGCCCCACTGGTGCTCAGTAAATATTCATGATGGCCTAGGTCCTTCCTGGGGTGCAGGGCAGGGGGCTTCACCCTGCAGAGCCAAGAGGTAGCACGGCCACCCCTAGAGTCCGGGGGGTGGCTGGGCAGCCCCCACAGGGCACTGCCTGTCCCTGGCAGCTGTGTGCAGCCCCCGCAGGGCAGCACGCGGAACTGTGGCCCAGGTGGCCGGGAGCCACCATGGACACTGTCAGAACTGCCCTTCCACTTCAGGGCCAGCCTGCCGCCCAGGGTCCAAACAGCCTTCTAGAACACGATGGACCTGGGGCCCCCCTAGCAACCACCATCTAGACCCTCAGGCCTCCTGAGGTTGCTGCCTGGCTTGTACCTTTCAGAAAACCCCTGGCATGGGGGCAGAGGTGTCACAGTCCAAGCAGCCTCACTCCTGAGAAGCCGCCAGTGTCCCCTGATTGCAGAGTGGGCAGCGCCTGGAGCTGTGGAGGAGGGTGTCTGGGGGCGGGCTGGCCCGCTGAGCAGCGCCTCTCTTCACAGGCTACAGCATGCTGGCCATAGGGATTGGAACCCTGATCTACGGGCACTGGAGCATAATGAAGTGGAACCGTGAGCGCAGGTAGGGCCCCTGGTGGGCGTTGTCTGAAAGTGCCCCCCCGGCGAGTTGTCGGGGTCCTGTAGCATTCCGCTGTTGTCTGTGCTGGCGAGGGGTGAACGGGCCCCTTGGACTTGGCTGTGCAATCCCAGGCCCCAGAAAGTGCAGATCCAGACCCAGCACTTCCACTTCTAGGCTCTGTCCTCGAGATGTCTCCATGTCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGCATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGGGAAACCCTGTCCTCGCCACCCCAAAAAATGTGTCTAGTGAGGAGGGTTGGGACCCGTGGATCCAGATTAGGACAGGATATGAGTGGGGGGCCTGCCTCGGGCCCTCTAAGCAGGATTTTGTCAGAGGTGACCAGGCTCAAACCAGACCACACCAGGCAGTGGACACACAGGGCCAGATGAACTAGGGCCAGGCGCCCCCCTCTCCCTGTGTCACAGGCTGGGCACTCCTTCCCCACCCCTCCCCCAACCCCAACGCAGGCCAGGCAGGACTGGGAGATGGGGGTCATTGCAGGGAACTTGGAAACTGCCAGAAAGCAGGGAGAAGAAAGGAAAGATTGTGGCCCCGCCTGCCCCAGCCTCACACACTGATTATTTTGAGATGAAGGGGACGTGGTTTTGTGAGGCCCAGAGCCCCGTGATGAAGTCACCCCCTCTTCGTCGCGATCATCAGGCAGAGTTATTTTTAGGATAAAAAAAGTTTTTAATTGAAAAGAAAGTAGAAAGCCAACAGTCTTGTGGGCAGTCACCCGTGCAGCTGCCTGCACCCGCCCTCCTCTCAGGCTCCTGGTGGGCTCTGCCCACAGCCCTTGCCCTTCCCGCGACCCTCGCCCTGCCCCCTGCCTGCCTCCCCGCCCCCCTCCGCCTCTTCCCCCAGCAGCACCCTGGCCCCTGAGGTCTGTGCTGCCTGTGCTCCCCCGACCTAGCCTGGTCTGACCTGAGTGTGGGTTTCGGGCTTTCACAGGCGCCTACAAATCGAGGACTTCGAGGCTCGCATCGCGCTGTTGCCACTGTTACAGGCAGAAACCGACCGGAGGTAGCACCGCAGGGGCCAAGGTTGGGAGGTCACTGGCCGGAAGGCCCCAGGCTGCAGGGCCTGACCTGCATCCCCGAAGGTGGCCAGAATGCACGTGGGGGCCATCGCCCTGTGCCGTCAGCTGCATCCTCAGGCGTGGAGACTTAGTGGAGACCCAAGGGGGCGAACCGGAAGGCTTCCTGGAGGAGGAGGCAGCACTGGGGTTGGGGCAAGAGAAAAGCTAGGAGTTGGCTGGGGGAAAAGGAGACAGGGTCGGAGGGAGGCTTGAAGGGGTGCTACTAGGGGCCCTAGGCAGGGGCCCCTCAGGGCACTGAGGCCCCACCCCCACCATCGGCCCCATCCCCACAGGACCTTGCAGATGCTTCGGGAGAACCTGGAGGAGGAGGCCATCATCATGAAGGACGTGCCCGACTGGAAGGTGGGTCCCGGCTGGGAGGGCAGAGGTGCCAGCCACGGCAGAGACAGGGCCTGGGGTTGGGGAGCTCCCACAGCTTTCTATAGAAACCCCAGGACCAAGGGGGTGGTGGGTGCCAGGTCCCACAAGGGAAGGCTGTAGCGCCTGCCACGCACAGGGGCCACTGATCCTGGGGGATGGGTCCTAGCAGGCTGTATATGGGTGGCTGTGCCTCTACCCATACCCCACTGTCCCCACAGGTGGGGGAGTCTGTGTTCCACACAACCCGCTGGGTGCCCCCCTTGATCGGGGAGCTGTACGGGCTGCGCACCACAGAGGAGGCTCTCCATGCCAGCCACGGCTTCATGTGGTACACGTAGGCCCTGTGCCCTCCGGCCACCTGGATCCCTGCCCCTCCCCACTGGGACGGAATAAATGCTCTGCAGACCTGGCCTGCCTGTTTTCCTGGGGACTGGGGGAAAGAAGGGGGAGAGG
CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTCTGCACCAGAAGGCTGAGGGCAGCCCAGGTCTGTCCCCTGGGTTCTCTGTAGCCGTGGAAAATAATGAGATATGGCCGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTGCAGGTGGATCATGAGGTCAGGAGGTCGTAACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCCGGAGGCTGAGGTGGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACCCCAGCCAGGGCAACAGAGTGAGATTCCGTCTCAAAAATAAATTAATTAAAAAAAAGAAAAGAACGAGATATGACCAGCCTGGGCAATATAGCAAGACCCCATCTGTACAAAAATTAGTTAACTGGACATGGCACACACCTGGGGTCCCAGTTACTCGGGAGGCTAAAGTGGAAGGATCACTTGAACCCAGGAGTTGGAGGCTGCATTGAGCCATGATTGCGCCCCTGCACTCCAGCCTGGGTAGCAGAGTGAGACCTTGTCTCAAAACCAAAAACCAAAAAAGGAAAAAAAAATGAACAAGGCAGCTGATGAAACCTCCCATGTGCTAGACAGGAGGCTGAGAGCTGGGAGCTGGCCCTGAGCACCCTGGGCCTCTCCAGAGATGTGCCTCTGAGCCCGGACCCAGCACACCCTCATTACCTGTAGTATGGAAATGTCTTAGCCCTGACTTGGGCTTCTAACAGGTTAAATAACCAGGTACAAATTTGAGCCAGTTTCTCATTTATCTCCGGGTCTAGCAGAGGTGCCCCCGTGAGCTCCATGCTGGAGCAGAGCTGAAGGCAGAAGAGCATGACAGGTGCAGAGCAGGGCCCGGCAGGCACAGAGTAGCCCCAGCAGGCATAGAGCAGGGCCAGTGCCCTGGAGGCCTGGAGATGGCCTTGCCTTCCACCTGCTGGTCATTTCCTGGGTGTTGACTGGAGCCTGGCCTACCTGAGCTTTTCATTCATCCCACCAAGTGCAAAGCCTGTCCAGAGAAGAGACTGGGGCTGGAAGGATCTGGAGGGTGCAGGGTGAGCCTGGGAGCCAGATCCCAGACAGCCCAGGCCTCTCTGAAGATCCCAGTGGGCCCCCAGCCTGTCAGTCAGGATTAGAGCAAGGCCCCACTGGTGCTCAGTAAATATTCATGATGGCCTAGGTCCTTCCTGGGGTGCAGGGCAGGGGGCTTCACCCTGCAGAGCCAAGAGGTAGCACGGCCACCCCTAGAGTCCGGGGGGTGGCTGGGCAGCCCCCACAGGGCACTGCCTGTCCCTGGCAGCTGTGTGCAGCCCCCGCAGGGCAGCACGCGGAACTGTGGCCCAGGTGGCCGGGAGCCACCATGGACACTGTCAGAACTGCCCTTCCACTTCAGGGCCAGCCTGCCGCCCAGGGTCCAAACAGCCTTCTAGAACACGATGGACCTGGGGCCCCCCTAGCAACCACCATCTAGACCCTCAGGCCTCCTGAGGTTGCTGCCTGGCTTGTACCTTTCAGAAAACCCCTGGCATGGGGGCAGAGGTGTCACAGTCCAAGCAGCCTCACTCCTGAGAAGCCGCCAGTGTCCCCTGATTGCAGAGTGGGCAGCGCCTGGAGCTGTGGAGGAGGGTGTCTGGGGGCGGGCTGGCCCGCTGAGCAGCGCCTCTCTTCACAGGCTACAGCATGCCGGCCATAGGGATTGGAACCCTGATCTACGGGCACTGGAGCATAATGAAGTGGAACCGTGAGCGCAGGTAGGGCCCCTGGTGGGCGTTGTCTGAAAGTGCCCCCCCGGCGAGTTGTCGGGGTCCTGTAGCATTCCGCTGTTGTCTGTGCTGGCGAGGGGTGAACGGGCCCCTTGGACTTGGCTGTGCAATCCCAGGCCCCAGAAAGTGCAGATCCAGACCCAGCACTTCCACTTCTAGGCTCTGTCCTCGAGATGTCTCCATGTCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGCATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGGGAAACCCTGTCCTCGCCACCCCAAAAAATGTGTCTAGTGAGGAGGGTTGGGACCCGTGGATCCAGATTAGGACAGGATATGAGTGGGGGGCCTGCCTCGGGCCCTCTAAGCAGGATTTTGTCAGAGGTGACCAGGCTCAAACCAGACCACACCAGGCAGTGGACACACAGGGCCAGATGAACTAGGGCCAGGCGCCCCCCTCTCCCTGTGTCACAGGCTGGGCACTCCTTCCCCACCCCTCCCCCAACCCCAACGCAGGCCAGGCAGGACTGGGAGATGGGGGTCATTGCAGGGAACTTGGAAACTGCCAGAAAGCAGGGAGAAGAAAGGAAAGATTGTGGCCCCGCCTGCCCCAGCCTCACACACTGATTATTTTGAGATGAAGGGGACGTGGTTTTGTGAGGCCCAGAGCCCCGTGATGAAGTCACCCCCTCTTCGTCGCGATCATCAGGCAGAGTTATTTTTAGGATAAAAAAAGTTTTTAATTGAAAAGAAAGTAGAAAGCCAACAGTCTTGTGGGCAGTCACCCGTGCAGCTGCCTGCACCCGCCCTCCTCTCAGGCTCCTGGTGGGCTCTGCCCACAGCCCTTGCCCTTCCCGCGACCCTCGCCCTGCCCCCTGCCTGCCTCCCCGCCCCCCTCCGCCTCTTCCCCCAGCAGCACCCTGGCCCCTGAGGTCTGTGCTGCCTGTGCTCCCCCGACCTAGCCTGGTCTGACCTGAGTGTGGGTTTCGGGCTTTCACAGGCGCCTACAAATCGAGGACTTCGAGGCTCGCATCGCGCTGTTGCCACTGTTACAGGCAGAAACCGACCGGAGGTAGCACCGCAGGGGCCAAGGTTGGGAGGTCACTGGCCGGAAGGCCCCAGGCTGCAGGGCCTGACCTGCATCCCCGAAGGTGGCCAGAATGCACGTGGGGGCCATCGCCCTGTGCCGTCAGCTGCATCCTCAGGCGTGGAGACTTAGTGGAGACCCAAGGGGGCGAACCGGAAGGCTTCCTGGAGGAGGAGGCAGCACTGGGGTTGGGGCAAGAGAAAAGCTAGGAGTTGGCTGGGGGAAAAGGAGACAGGGTCGGAGGGAGGCTTGAAGGGGTGCTACTAGGGGCCCTAGGCAGGGGCCCCTCAGGGCACTGAGGCCCCACCCCCACCATCGGCCCCATCCCCACAGGACCTTGCAGATGCTTCGGGAGAACCTGGAGGAGGAGGCCATCATCATGAAGGACGTGCCCGACTGGAAGGTGGGTCCCGGCTGGGAGGGCAGAGGTGCCAGCCACGGCAGAGACAGGGCCTGGGGTTGGGGAGCTCCCACAGCTTTCTATAGAAACCCCAGGACCAAGGGGGTGGTGGGTGCCAGGTCCCACAAGGGAAGGCTGTAGCGCCTGCCACGCACAGGGGCCACTGATCCTGGGGGATGGGTCCTAGCAGGCTGTATATGGGTGGCTGTGCCTCTACCCATACCCCACTGTCCCCACAGGTGGGGGAGTCTGTGTTCCACACAACCCGCTGGGTGCCCCCCTTGATCGGGGAGCTGTACGGGCTGCGCACCACAGAGGAGGCTCTCCATGCCAGCCACGGCTTCATGTGGTACACGTAGGCCCTGTGCCCTCCGGCCACCTGGATCCCTGCCCCTCCCCACTGGGACGGAATAAATGCTCTGCAGACCTGGCCTGCCTGTTTTCCTGGGGACTGGGGGAAAGAAGGGGGAGAGG
Task1_train_26991
The gene LOC125371495, NDUFA13 (Sharpr-MPRA regulatory region 9511| NADH:ubiquinone oxidoreductase subunit A13), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Leigh syndrome
CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTCTGCACCAGAAGGCTGAGGGCAGCCCAGGTCTGTCCCCTGGGTTCTCTGTAGCCGTGGAAAATAATGAGATATGGCCGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTGCAGGTGGATCATGAGGTCAGGAGGTCGTAACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCCGGAGGCTGAGGTGGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACCCCAGCCAGGGCAACAGAGTGAGATTCCGTCTCAAAAATAAATTAATTAAAAAAAAGAAAAGAACGAGATATGACCAGCCTGGGCAATATAGCAAGACCCCATCTGTACAAAAATTAGTTAACTGGACATGGCACACACCTGGGGTCCCAGTTACTCGGGAGGCTAAAGTGGAAGGATCACTTGAACCCAGGAGTTGGAGGCTGCATTGAGCCATGATTGCGCCCCTGCACTCCAGCCTGGGTAGCAGAGTGAGACCTTGTCTCAAAACCAAAAACCAAAAAAGGAAAAAAAAATGAACAAGGCAGCTGATGAAACCTCCCATGTGCTAGACAGGAGGCTGAGAGCTGGGAGCTGGCCCTGAGCACCCTGGGCCTCTCCAGAGATGTGCCTCTGAGCCCGGACCCAGCACACCCTCATTACCTGTAGTATGGAAATGTCTTAGCCCTGACTTGGGCTTCTAACAGGTTAAATAACCAGGTACAAATTTGAGCCAGTTTCTCATTTATCTCCGGGTCTAGCAGAGGTGCCCCCGTGAGCTCCATGCTGGAGCAGAGCTGAAGGCAGAAGAGCATGACAGGTGCAGAGCAGGGCCCGGCAGGCACAGAGTAGCCCCAGCAGGCATAGAGCAGGGCCAGTGCCCTGGAGGCCTGGAGATGGCCTTGCCTTCCACCTGCTGGTCATTTCCTGGGTGTTGACTGGAGCCTGGCCTACCTGAGCTTTTCATTCATCCCACCAAGTGCAAAGCCTGTCCAGAGAAGAGACTGGGGCTGGAAGGATCTGGAGGGTGCAGGGTGAGCCTGGGAGCCAGATCCCAGACAGCCCAGGCCTCTCTGAAGATCCCAGTGGGCCCCCAGCCTGTCAGTCAGGATTAGAGCAAGGCCCCACTGGTGCTCAGTAAATATTCATGATGGCCTAGGTCCTTCCTGGGGTGCAGGGCAGGGGGCTTCACCCTGCAGAGCCAAGAGGTAGCACGGCCACCCCTAGAGTCCGGGGGGTGGCTGGGCAGCCCCCACAGGGCACTGCCTGTCCCTGGCAGCTGTGTGCAGCCCCCGCAGGGCAGCACGCGGAACTGTGGCCCAGGTGGCCGGGAGCCACCATGGACACTGTCAGAACTGCCCTTCCACTTCAGGGCCAGCCTGCCGCCCAGGGTCCAAACAGCCTTCTAGAACACGATGGACCTGGGGCCCCCCTAGCAACCACCATCTAGACCCTCAGGCCTCCTGAGGTTGCTGCCTGGCTTGTACCTTTCAGAAAACCCCTGGCATGGGGGCAGAGGTGTCACAGTCCAAGCAGCCTCACTCCTGAGAAGCCGCCAGTGTCCCCTGATTGCAGAGTGGGCAGCGCCTGGAGCTGTGGAGGAGGGTGTCTGGGGGCGGGCTGGCCCGCTGAGCAGCGCCTCTCTTCACAGGCTACAGCATGCTGGCCATAGGGATTGGAACCCTGATCTACGGGCACTGGAGCATAATGAAGTGGAACCGTGAGCGCAGGTAGGGCCCCTGGTGGGCGTTGTCTGAAAGTGCCCCCCCGGCGAGTTGTCGGGGTCCTGTAGCATTCCGCTGTTGTCTGTGCTGGCGAGGGGTGAACGGGCCCCTTGGACTTGGCTGTGCAATCCCAGGCCCCAGAAAGTGCAGATCCAGACCCAGCACTTCCACTTCTAGGCTCTGTCCTCGAGATGTCTCCATGTCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGCATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGGGAAACCCTGTCCTCGCCACCCCAAAAAATGTGTCTAGTGAGGAGGGTTGGGACCCGTGGATCCAGATTAGGACAGGATATGAGTGGGGGGCCTGCCTCGGGCCCTCTAAGCAGGATTTTGTCAGAGGTGACCAGGCTCAAACCAGACCACACCAGGCAGTGGACACACAGGGCCAGATGAACTAGGGCCAGGCGCCCCCCTCTCCCTGTGTCACAGGCTGGGCACTCCTTCCCCACCCCTCCCCCAACCCCAACGCAGGCCAGGCAGGACTGGGAGATGGGGGTCATTGCAGGGAACTTGGAAACTGCCAGAAAGCAGGGAGAAGAAAGGAAAGATTGTGGCCCCGCCTGCCCCAGCCTCACACACTGATTATTTTGAGATGAAGGGGACGTGGTTTTGTGAGGCCCAGAGCCCCGTGATGAAGTCACCCCCTCTTCGTCGCGATCATCAGGCAGAGTTATTTTTAGGATAAAAAAAGTTTTTAATTGAAAAGAAAGTAGAAAGCCAACAGTCTTGTGGGCAGTCACCCGTGCAGCTGCCTGCACCCGCCCTCCTCTCAGGCTCCTGGTGGGCTCTGCCCACAGCCCTTGCCCTTCCCGCGACCCTCGCCCTGCCCCCTGCCTGCCTCCCCGCCCCCCTCCGCCTCTTCCCCCAGCAGCACCCTGGCCCCTGAGGTCTGTGCTGCCTGTGCTCCCCCGACCTAGCCTGGTCTGACCTGAGTGTGGGTTTCGGGCTTTCACAGGCGCCTACAAATCGAGGACTTCGAGGCTCGCATCGCGCTGTTGCCACTGTTACAGGCAGAAACCGACCGGAGGTAGCACCGCAGGGGCCAAGGTTGGGAGGTCACTGGCCGGAAGGCCCCAGGCTGCAGGGCCTGACCTGCATCCCCGAAGGTGGCCAGAATGCACGTGGGGGCCATCGCCCTGTGCCGTCAGCTGCATCCTCAGGCGTGGAGACTTAGTGGAGACCCAAGGGGGCGAACCGGAAGGCTTCCTGGAGGAGGAGGCAGCACTGGGGTTGGGGCAAGAGAAAAGCTAGGAGTTGGCTGGGGGAAAAGGAGACAGGGTCGGAGGGAGGCTTGAAGGGGTGCTACTAGGGGCCCTAGGCAGGGGCCCCTCAGGGCACTGAGGCCCCACCCCCACCATCGGCCCCATCCCCACAGGACCTTGCAGATGCTTCGGGAGAACCTGGAGGAGGAGGCCATCATCATGAAGGACGTGCCCGACTGGAAGGTGGGTCCCGGCTGGGAGGGCAGAGGTGCCAGCCACGGCAGAGACAGGGCCTGGGGTTGGGGAGCTCCCACAGCTTTCTATAGAAACCCCAGGACCAAGGGGGTGGTGGGTGCCAGGTCCCACAAGGGAAGGCTGTAGCGCCTGCCACGCACAGGGGCCACTGATCCTGGGGGATGGGTCCTAGCAGGCTGTATATGGGTGGCTGTGCCTCTACCCATACCCCACTGTCCCCACAGGTGGGGGAGTCTGTGTTCCACACAACCCGCTGGGTGCCCCCCTTGATCGGGGAGCTGTACGGGCTGCGCACCACAGAGGAGGCTCTCCATGCCAGCCACGGCTTCATGTGGTACACGTAGGCCCTGTGCCCTCCGGCCACCTGGATCCCTGCCCCTCCCCACTGGGACGGAATAAATGCTCTGCAGACCTGGCCTGCCTGTTTTCCTGGGGACTGGGGGAAAGAAGGGGGAGAGG
CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTCTGCACCAGAAGGCTGAGGGCAGCCCAGGTCTGTCCCCTGGGTTCTCTGTAGCCGTGGAAAATAATGAGATATGGCCGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTGCAGGTGGATCATGAGGTCAGGAGGTCGTAACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCCGGAGGCTGAGGTGGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACCCCAGCCAGGGCAACAGAGTGAGATTCCGTCTCAAAAATAAATTAATTAAAAAAAAGAAAAGAACGAGATATGACCAGCCTGGGCAATATAGCAAGACCCCATCTGTACAAAAATTAGTTAACTGGACATGGCACACACCTGGGGTCCCAGTTACTCGGGAGGCTAAAGTGGAAGGATCACTTGAACCCAGGAGTTGGAGGCTGCATTGAGCCATGATTGCGCCCCTGCACTCCAGCCTGGGTAGCAGAGTGAGACCTTGTCTCAAAACCAAAAACCAAAAAAGGAAAAAAAAATGAACAAGGCAGCTGATGAAACCTCCCATGTGCTAGACAGGAGGCTGAGAGCTGGGAGCTGGCCCTGAGCACCCTGGGCCTCTCCAGAGATGTGCCTCTGAGCCCGGACCCAGCACACCCTCATTACCTGTAGTATGGAAATGTCTTAGCCCTGACTTGGGCTTCTAACAGGTTAAATAACCAGGTACAAATTTGAGCCAGTTTCTCATTTATCTCCGGGTCTAGCAGAGGTGCCCCCGTGAGCTCCATGCTGGAGCAGAGCTGAAGGCAGAAGAGCATGACAGGTGCAGAGCAGGGCCCGGCAGGCACAGAGTAGCCCCAGCAGGCATAGAGCAGGGCCAGTGCCCTGGAGGCCTGGAGATGGCCTTGCCTTCCACCTGCTGGTCATTTCCTGGGTGTTGACTGGAGCCTGGCCTACCTGAGCTTTTCATTCATCCCACCAAGTGCAAAGCCTGTCCAGAGAAGAGACTGGGGCTGGAAGGATCTGGAGGGTGCAGGGTGAGCCTGGGAGCCAGATCCCAGACAGCCCAGGCCTCTCTGAAGATCCCAGTGGGCCCCCAGCCTGTCAGTCAGGATTAGAGCAAGGCCCCACTGGTGCTCAGTAAATATTCATGATGGCCTAGGTCCTTCCTGGGGTGCAGGGCAGGGGGCTTCACCCTGCAGAGCCAAGAGGTAGCACGGCCACCCCTAGAGTCCGGGGGGTGGCTGGGCAGCCCCCACAGGGCACTGCCTGTCCCTGGCAGCTGTGTGCAGCCCCCGCAGGGCAGCACGCGGAACTGTGGCCCAGGTGGCCGGGAGCCACCATGGACACTGTCAGAACTGCCCTTCCACTTCAGGGCCAGCCTGCCGCCCAGGGTCCAAACAGCCTTCTAGAACACGATGGACCTGGGGCCCCCCTAGCAACCACCATCTAGACCCTCAGGCCTCCTGAGGTTGCTGCCTGGCTTGTACCTTTCAGAAAACCCCTGGCATGGGGGCAGAGGTGTCACAGTCCAAGCAGCCTCACTCCTGAGAAGCCGCCAGTGTCCCCTGATTGCAGAGTGGGCAGCGCCTGGAGCTGTGGAGGAGGGTGTCTGGGGGCGGGCTGGCCCGCTGAGCAGCGCCTCTCTTCACAGGCTACAGCATGCCGGCCATAGGGATTGGAACCCTGATCTACGGGCACTGGAGCATAATGAAGTGGAACCGTGAGCGCAGGTAGGGCCCCTGGTGGGCGTTGTCTGAAAGTGCCCCCCCGGCGAGTTGTCGGGGTCCTGTAGCATTCCGCTGTTGTCTGTGCTGGCGAGGGGTGAACGGGCCCCTTGGACTTGGCTGTGCAATCCCAGGCCCCAGAAAGTGCAGATCCAGACCCAGCACTTCCACTTCTAGGCTCTGTCCTCGAGATGTCTCCATGTCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGCATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGGGAAACCCTGTCCTCGCCACCCCAAAAAATGTGTCTAGTGAGGAGGGTTGGGACCCGTGGATCCAGATTAGGACAGGATATGAGTGGGGGGCCTGCCTCGGGCCCTCTAAGCAGGATTTTGTCAGAGGTGACCAGGCTCAAACCAGACCACACCAGGCAGTGGACACACAGGGCCAGATGAACTAGGGCCAGGCGCCCCCCTCTCCCTGTGTCACAGGCTGGGCACTCCTTCCCCACCCCTCCCCCAACCCCAACGCAGGCCAGGCAGGACTGGGAGATGGGGGTCATTGCAGGGAACTTGGAAACTGCCAGAAAGCAGGGAGAAGAAAGGAAAGATTGTGGCCCCGCCTGCCCCAGCCTCACACACTGATTATTTTGAGATGAAGGGGACGTGGTTTTGTGAGGCCCAGAGCCCCGTGATGAAGTCACCCCCTCTTCGTCGCGATCATCAGGCAGAGTTATTTTTAGGATAAAAAAAGTTTTTAATTGAAAAGAAAGTAGAAAGCCAACAGTCTTGTGGGCAGTCACCCGTGCAGCTGCCTGCACCCGCCCTCCTCTCAGGCTCCTGGTGGGCTCTGCCCACAGCCCTTGCCCTTCCCGCGACCCTCGCCCTGCCCCCTGCCTGCCTCCCCGCCCCCCTCCGCCTCTTCCCCCAGCAGCACCCTGGCCCCTGAGGTCTGTGCTGCCTGTGCTCCCCCGACCTAGCCTGGTCTGACCTGAGTGTGGGTTTCGGGCTTTCACAGGCGCCTACAAATCGAGGACTTCGAGGCTCGCATCGCGCTGTTGCCACTGTTACAGGCAGAAACCGACCGGAGGTAGCACCGCAGGGGCCAAGGTTGGGAGGTCACTGGCCGGAAGGCCCCAGGCTGCAGGGCCTGACCTGCATCCCCGAAGGTGGCCAGAATGCACGTGGGGGCCATCGCCCTGTGCCGTCAGCTGCATCCTCAGGCGTGGAGACTTAGTGGAGACCCAAGGGGGCGAACCGGAAGGCTTCCTGGAGGAGGAGGCAGCACTGGGGTTGGGGCAAGAGAAAAGCTAGGAGTTGGCTGGGGGAAAAGGAGACAGGGTCGGAGGGAGGCTTGAAGGGGTGCTACTAGGGGCCCTAGGCAGGGGCCCCTCAGGGCACTGAGGCCCCACCCCCACCATCGGCCCCATCCCCACAGGACCTTGCAGATGCTTCGGGAGAACCTGGAGGAGGAGGCCATCATCATGAAGGACGTGCCCGACTGGAAGGTGGGTCCCGGCTGGGAGGGCAGAGGTGCCAGCCACGGCAGAGACAGGGCCTGGGGTTGGGGAGCTCCCACAGCTTTCTATAGAAACCCCAGGACCAAGGGGGTGGTGGGTGCCAGGTCCCACAAGGGAAGGCTGTAGCGCCTGCCACGCACAGGGGCCACTGATCCTGGGGGATGGGTCCTAGCAGGCTGTATATGGGTGGCTGTGCCTCTACCCATACCCCACTGTCCCCACAGGTGGGGGAGTCTGTGTTCCACACAACCCGCTGGGTGCCCCCCTTGATCGGGGAGCTGTACGGGCTGCGCACCACAGAGGAGGCTCTCCATGCCAGCCACGGCTTCATGTGGTACACGTAGGCCCTGTGCCCTCCGGCCACCTGGATCCCTGCCCCTCCCCACTGGGACGGAATAAATGCTCTGCAGACCTGGCCTGCCTGTTTTCCTGGGGACTGGGGGAAAGAAGGGGGAGAGG
Task1_train_26992
The variant affects gene LOC125371495, NDUFA13 (Sharpr-MPRA regulatory region 9511| NADH:ubiquinone oxidoreductase subunit A13), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 28
TGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTCTGCACCAGAAGGCTGAGGGCAGCCCAGGTCTGTCCCCTGGGTTCTCTGTAGCCGTGGAAAATAATGAGATATGGCCGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTGCAGGTGGATCATGAGGTCAGGAGGTCGTAACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCCGGAGGCTGAGGTGGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACCCCAGCCAGGGCAACAGAGTGAGATTCCGTCTCAAAAATAAATTAATTAAAAAAAAGAAAAGAACGAGATATGACCAGCCTGGGCAATATAGCAAGACCCCATCTGTACAAAAATTAGTTAACTGGACATGGCACACACCTGGGGTCCCAGTTACTCGGGAGGCTAAAGTGGAAGGATCACTTGAACCCAGGAGTTGGAGGCTGCATTGAGCCATGATTGCGCCCCTGCACTCCAGCCTGGGTAGCAGAGTGAGACCTTGTCTCAAAACCAAAAACCAAAAAAGGAAAAAAAAATGAACAAGGCAGCTGATGAAACCTCCCATGTGCTAGACAGGAGGCTGAGAGCTGGGAGCTGGCCCTGAGCACCCTGGGCCTCTCCAGAGATGTGCCTCTGAGCCCGGACCCAGCACACCCTCATTACCTGTAGTATGGAAATGTCTTAGCCCTGACTTGGGCTTCTAACAGGTTAAATAACCAGGTACAAATTTGAGCCAGTTTCTCATTTATCTCCGGGTCTAGCAGAGGTGCCCCCGTGAGCTCCATGCTGGAGCAGAGCTGAAGGCAGAAGAGCATGACAGGTGCAGAGCAGGGCCCGGCAGGCACAGAGTAGCCCCAGCAGGCATAGAGCAGGGCCAGTGCCCTGGAGGCCTGGAGATGGCCTTGCCTTCCACCTGCTGGTCATTTCCTGGGTGTTGACTGGAGCCTGGCCTACCTGAGCTTTTCATTCATCCCACCAAGTGCAAAGCCTGTCCAGAGAAGAGACTGGGGCTGGAAGGATCTGGAGGGTGCAGGGTGAGCCTGGGAGCCAGATCCCAGACAGCCCAGGCCTCTCTGAAGATCCCAGTGGGCCCCCAGCCTGTCAGTCAGGATTAGAGCAAGGCCCCACTGGTGCTCAGTAAATATTCATGATGGCCTAGGTCCTTCCTGGGGTGCAGGGCAGGGGGCTTCACCCTGCAGAGCCAAGAGGTAGCACGGCCACCCCTAGAGTCCGGGGGGTGGCTGGGCAGCCCCCACAGGGCACTGCCTGTCCCTGGCAGCTGTGTGCAGCCCCCGCAGGGCAGCACGCGGAACTGTGGCCCAGGTGGCCGGGAGCCACCATGGACACTGTCAGAACTGCCCTTCCACTTCAGGGCCAGCCTGCCGCCCAGGGTCCAAACAGCCTTCTAGAACACGATGGACCTGGGGCCCCCCTAGCAACCACCATCTAGACCCTCAGGCCTCCTGAGGTTGCTGCCTGGCTTGTACCTTTCAGAAAACCCCTGGCATGGGGGCAGAGGTGTCACAGTCCAAGCAGCCTCACTCCTGAGAAGCCGCCAGTGTCCCCTGATTGCAGAGTGGGCAGCGCCTGGAGCTGTGGAGGAGGGTGTCTGGGGGCGGGCTGGCCCGCTGAGCAGCGCCTCTCTTCACAGGCTACAGCATGCTGGCCATAGGGATTGGAACCCTGATCTACGGGCACTGGAGCATAATGAAGTGGAACCGTGAGCGCAGGTAGGGCCCCTGGTGGGCGTTGTCTGAAAGTGCCCCCCCGGCGAGTTGTCGGGGTCCTGTAGCATTCCGCTGTTGTCTGTGCTGGCGAGGGGTGAACGGGCCCCTTGGACTTGGCTGTGCAATCCCAGGCCCCAGAAAGTGCAGATCCAGACCCAGCACTTCCACTTCTAGGCTCTGTCCTCGAGATGTCTCCATGTCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGCATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGGGAAACCCTGTCCTCGCCACCCCAAAAAATGTGTCTAGTGAGGAGGGTTGGGACCCGTGGATCCAGATTAGGACAGGATATGAGTGGGGGGCCTGCCTCGGGCCCTCTAAGCAGGATTTTGTCAGAGGTGACCAGGCTCAAACCAGACCACACCAGGCAGTGGACACACAGGGCCAGATGAACTAGGGCCAGGCGCCCCCCTCTCCCTGTGTCACAGGCTGGGCACTCCTTCCCCACCCCTCCCCCAACCCCAACGCAGGCCAGGCAGGACTGGGAGATGGGGGTCATTGCAGGGAACTTGGAAACTGCCAGAAAGCAGGGAGAAGAAAGGAAAGATTGTGGCCCCGCCTGCCCCAGCCTCACACACTGATTATTTTGAGATGAAGGGGACGTGGTTTTGTGAGGCCCAGAGCCCCGTGATGAAGTCACCCCCTCTTCGTCGCGATCATCAGGCAGAGTTATTTTTAGGATAAAAAAAGTTTTTAATTGAAAAGAAAGTAGAAAGCCAACAGTCTTGTGGGCAGTCACCCGTGCAGCTGCCTGCACCCGCCCTCCTCTCAGGCTCCTGGTGGGCTCTGCCCACAGCCCTTGCCCTTCCCGCGACCCTCGCCCTGCCCCCTGCCTGCCTCCCCGCCCCCCTCCGCCTCTTCCCCCAGCAGCACCCTGGCCCCTGAGGTCTGTGCTGCCTGTGCTCCCCCGACCTAGCCTGGTCTGACCTGAGTGTGGGTTTCGGGCTTTCACAGGCGCCTACAAATCGAGGACTTCGAGGCTCGCATCGCGCTGTTGCCACTGTTACAGGCAGAAACCGACCGGAGGTAGCACCGCAGGGGCCAAGGTTGGGAGGTCACTGGCCGGAAGGCCCCAGGCTGCAGGGCCTGACCTGCATCCCCGAAGGTGGCCAGAATGCACGTGGGGGCCATCGCCCTGTGCCGTCAGCTGCATCCTCAGGCGTGGAGACTTAGTGGAGACCCAAGGGGGCGAACCGGAAGGCTTCCTGGAGGAGGAGGCAGCACTGGGGTTGGGGCAAGAGAAAAGCTAGGAGTTGGCTGGGGGAAAAGGAGACAGGGTCGGAGGGAGGCTTGAAGGGGTGCTACTAGGGGCCCTAGGCAGGGGCCCCTCAGGGCACTGAGGCCCCACCCCCACCATCGGCCCCATCCCCACAGGACCTTGCAGATGCTTCGGGAGAACCTGGAGGAGGAGGCCATCATCATGAAGGACGTGCCCGACTGGAAGGTGGGTCCCGGCTGGGAGGGCAGAGGTGCCAGCCACGGCAGAGACAGGGCCTGGGGTTGGGGAGCTCCCACAGCTTTCTATAGAAACCCCAGGACCAAGGGGGTGGTGGGTGCCAGGTCCCACAAGGGAAGGCTGTAGCGCCTGCCACGCACAGGGGCCACTGATCCTGGGGGATGGGTCCTAGCAGGCTGTATATGGGTGGCTGTGCCTCTACCCATACCCCACTGTCCCCACAGGTGGGGGAGTCTGTGTTCCACACAACCCGCTGGGTGCCCCCCTTGATCGGGGAGCTGTACGGGCTGCGCACCACAGAGGAGGCTCTCCATGCCAGCCACGGCTTCATGTGGTACACGTAGGCCCTGTGCCCTCCGGCCACCTGGATCCCTGCCCCTCCCCACTGGGACGGAATAAATGCTCTGCAGACCTGGCCTGCCTGTTTTCCTGGGGACTGGGGGAAAGAAGGGGGAGAGGGCCCAGCTAGGCACCACCGGATCACATGTAGCATGGGGACGCAGCAGATATGCACAGGGTGAC
TGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTCTGCACCAGAAGGCTGAGGGCAGCCCAGGTCTGTCCCCTGGGTTCTCTGTAGCCGTGGAAAATAATGAGATATGGCCGGGCACGGTGGCTCACGCCTGTAATGCCAGCACTTGCAGGTGGATCATGAGGTCAGGAGGTCGTAACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCCGGAGGCTGAGGTGGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCACTGCACCCCAGCCAGGGCAACAGAGTGAGATTCCGTCTCAAAAATAAATTAATTAAAAAAAAGAAAAGAACGAGATATGACCAGCCTGGGCAATATAGCAAGACCCCATCTGTACAAAAATTAGTTAACTGGACATGGCACACACCTGGGGTCCCAGTTACTCGGGAGGCTAAAGTGGAAGGATCACTTGAACCCAGGAGTTGGAGGCTGCATTGAGCCATGATTGCGCCCCTGCACTCCAGCCTGGGTAGCAGAGTGAGACCTTGTCTCAAAACCAAAAACCAAAAAAGGAAAAAAAAATGAACAAGGCAGCTGATGAAACCTCCCATGTGCTAGACAGGAGGCTGAGAGCTGGGAGCTGGCCCTGAGCACCCTGGGCCTCTCCAGAGATGTGCCTCTGAGCCCGGACCCAGCACACCCTCATTACCTGTAGTATGGAAATGTCTTAGCCCTGACTTGGGCTTCTAACAGGTTAAATAACCAGGTACAAATTTGAGCCAGTTTCTCATTTATCTCCGGGTCTAGCAGAGGTGCCCCCGTGAGCTCCATGCTGGAGCAGAGCTGAAGGCAGAAGAGCATGACAGGTGCAGAGCAGGGCCCGGCAGGCACAGAGTAGCCCCAGCAGGCATAGAGCAGGGCCAGTGCCCTGGAGGCCTGGAGATGGCCTTGCCTTCCACCTGCTGGTCATTTCCTGGGTGTTGACTGGAGCCTGGCCTACCTGAGCTTTTCATTCATCCCACCAAGTGCAAAGCCTGTCCAGAGAAGAGACTGGGGCTGGAAGGATCTGGAGGGTGCAGGGTGAGCCTGGGAGCCAGATCCCAGACAGCCCAGGCCTCTCTGAAGATCCCAGTGGGCCCCCAGCCTGTCAGTCAGGATTAGAGCAAGGCCCCACTGGTGCTCAGTAAATATTCATGATGGCCTAGGTCCTTCCTGGGGTGCAGGGCAGGGGGCTTCACCCTGCAGAGCCAAGAGGTAGCACGGCCACCCCTAGAGTCCGGGGGGTGGCTGGGCAGCCCCCACAGGGCACTGCCTGTCCCTGGCAGCTGTGTGCAGCCCCCGCAGGGCAGCACGCGGAACTGTGGCCCAGGTGGCCGGGAGCCACCATGGACACTGTCAGAACTGCCCTTCCACTTCAGGGCCAGCCTGCCGCCCAGGGTCCAAACAGCCTTCTAGAACACGATGGACCTGGGGCCCCCCTAGCAACCACCATCTAGACCCTCAGGCCTCCTGAGGTTGCTGCCTGGCTTGTACCTTTCAGAAAACCCCTGGCATGGGGGCAGAGGTGTCACAGTCCAAGCAGCCTCACTCCTGAGAAGCCGCCAGTGTCCCCTGATTGCAGAGTGGGCAGCGCCTGGAGCTGTGGAGGAGGGTGTCTGGGGGCGGGCTGGCCCGCTGAGCAGCGCCTCTCTTCACAGGCTACAGCATGCTGGCCATAGGGATTGGAACCCTGATCTACGGGCACTGGAGCATAATGAAGTGGAACCGTGAGCACAGGTAGGGCCCCTGGTGGGCGTTGTCTGAAAGTGCCCCCCCGGCGAGTTGTCGGGGTCCTGTAGCATTCCGCTGTTGTCTGTGCTGGCGAGGGGTGAACGGGCCCCTTGGACTTGGCTGTGCAATCCCAGGCCCCAGAAAGTGCAGATCCAGACCCAGCACTTCCACTTCTAGGCTCTGTCCTCGAGATGTCTCCATGTCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGCATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGGGAAACCCTGTCCTCGCCACCCCAAAAAATGTGTCTAGTGAGGAGGGTTGGGACCCGTGGATCCAGATTAGGACAGGATATGAGTGGGGGGCCTGCCTCGGGCCCTCTAAGCAGGATTTTGTCAGAGGTGACCAGGCTCAAACCAGACCACACCAGGCAGTGGACACACAGGGCCAGATGAACTAGGGCCAGGCGCCCCCCTCTCCCTGTGTCACAGGCTGGGCACTCCTTCCCCACCCCTCCCCCAACCCCAACGCAGGCCAGGCAGGACTGGGAGATGGGGGTCATTGCAGGGAACTTGGAAACTGCCAGAAAGCAGGGAGAAGAAAGGAAAGATTGTGGCCCCGCCTGCCCCAGCCTCACACACTGATTATTTTGAGATGAAGGGGACGTGGTTTTGTGAGGCCCAGAGCCCCGTGATGAAGTCACCCCCTCTTCGTCGCGATCATCAGGCAGAGTTATTTTTAGGATAAAAAAAGTTTTTAATTGAAAAGAAAGTAGAAAGCCAACAGTCTTGTGGGCAGTCACCCGTGCAGCTGCCTGCACCCGCCCTCCTCTCAGGCTCCTGGTGGGCTCTGCCCACAGCCCTTGCCCTTCCCGCGACCCTCGCCCTGCCCCCTGCCTGCCTCCCCGCCCCCCTCCGCCTCTTCCCCCAGCAGCACCCTGGCCCCTGAGGTCTGTGCTGCCTGTGCTCCCCCGACCTAGCCTGGTCTGACCTGAGTGTGGGTTTCGGGCTTTCACAGGCGCCTACAAATCGAGGACTTCGAGGCTCGCATCGCGCTGTTGCCACTGTTACAGGCAGAAACCGACCGGAGGTAGCACCGCAGGGGCCAAGGTTGGGAGGTCACTGGCCGGAAGGCCCCAGGCTGCAGGGCCTGACCTGCATCCCCGAAGGTGGCCAGAATGCACGTGGGGGCCATCGCCCTGTGCCGTCAGCTGCATCCTCAGGCGTGGAGACTTAGTGGAGACCCAAGGGGGCGAACCGGAAGGCTTCCTGGAGGAGGAGGCAGCACTGGGGTTGGGGCAAGAGAAAAGCTAGGAGTTGGCTGGGGGAAAAGGAGACAGGGTCGGAGGGAGGCTTGAAGGGGTGCTACTAGGGGCCCTAGGCAGGGGCCCCTCAGGGCACTGAGGCCCCACCCCCACCATCGGCCCCATCCCCACAGGACCTTGCAGATGCTTCGGGAGAACCTGGAGGAGGAGGCCATCATCATGAAGGACGTGCCCGACTGGAAGGTGGGTCCCGGCTGGGAGGGCAGAGGTGCCAGCCACGGCAGAGACAGGGCCTGGGGTTGGGGAGCTCCCACAGCTTTCTATAGAAACCCCAGGACCAAGGGGGTGGTGGGTGCCAGGTCCCACAAGGGAAGGCTGTAGCGCCTGCCACGCACAGGGGCCACTGATCCTGGGGGATGGGTCCTAGCAGGCTGTATATGGGTGGCTGTGCCTCTACCCATACCCCACTGTCCCCACAGGTGGGGGAGTCTGTGTTCCACACAACCCGCTGGGTGCCCCCCTTGATCGGGGAGCTGTACGGGCTGCGCACCACAGAGGAGGCTCTCCATGCCAGCCACGGCTTCATGTGGTACACGTAGGCCCTGTGCCCTCCGGCCACCTGGATCCCTGCCCCTCCCCACTGGGACGGAATAAATGCTCTGCAGACCTGGCCTGCCTGTTTTCCTGGGGACTGGGGGAAAGAAGGGGGAGAGGGCCCAGCTAGGCACCACCGGATCACATGTAGCATGGGGACGCAGCAGATATGCACAGGGTGAC
Task1_train_26993
This mutation is located in gene UQCRFS1 (ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Lactic acidosis
TGACTTTTTAATGACTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTACAGGCAACCTAAAAATTGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCAGCATCACTGGCCATCAGAGAAATGTAAGCCTCCAATTTTTTGAAGAAACTTTAGCAACACGACGAATTCCAAAGATGCTTTTCTTTTGCTATTGAAATGTTCTCCTTCCTTCCTTCTCACCTCCAGGTCCCAAGGATGGGCTAGGGTACTCTACACCTGCCATGGACAGTTTCTTCAAAACCCACTGATGCTCCTTAACAAATATTCATTCACAAATACTTTGCACTAACTGTATACAAAATCCGACGTTGTGAAAGATAGAAAAATAAAGAAGATATTACCTTCTCTATGCCCTTAAGCCCAAGGGTGGAGGAGTTACCAATAAACACAATACAGAGTGTAAAGTGTATGTGCTACAGAGACAGACAAATCAGCAAATAAAAACTTTATTCACCTGATCCTTAACTGAGATTGAAAAGATGGGTAAGGAAAACATATGGACATGTAGCAACTTAGTGGAAGGACCATGAAGAAAGTGCAGAGCCCAGGGTGAATGAAGACAGAGTAAAAAGAAAAGTGGCGGGCAATTTGGTTAGCGTGTAGGGGAAGAGTCACAAACAGCTATCAGTGGAGCCAGGCTGGTAACAGAATGAAACACGCAGACCTGGTAAAGACTGTGACAAACTGGAGAAGACCACTTGCTCCAACTGCGGGGGCGGCCACTACACAGCACACTATGGAATTTTCCCAAGTAGAAACTAGATCCCAGTATTACCGGCTTCCAGCATTTTAAGAGATGCCATTAGTCTTCCCAGTTTTTTTGAAAACTACACAGCCTGCAGACACACTGCCCACAGGCTGCCATTTCTCTATCTCCGATACAGGGCCAAGTAAAGATGGAAGGCGAGGCAAAGAAGATAAACGGGGATCTAAGGACAGAGGGTGTGGAATAGCCCCTGCGAAGAGCTCAGTGGCTACGACAATTCGTCTTGTCAAATCCCTGCTACCACATGTCCACACCACGGATCCTGGTGCGAGTCATTCTACCTCGTCTGTTTTCTCATCTGTAAAATGTAAATGTCGTCAATCTCTGCCCGTCCTTGACGACTGATTATGTTGTGACACTACACTGTAACTGACCTTGTGTATGTTTTTTTTGTTTTTTTTTTGGTGGGGGGGTGATGAAGGGGAAGGACATGAAGGGATCGGTAGTGGTGAGAAGACCAACTTCCCAAATATTAGTAAGTTTCCATTTCTTAAGCATGTAAGTGCCCAAACTGTGCTAACGGCTTTACGTAGAATTCCTCCACCTAAGCCTCACGACACCCCTACAAAATTGATAAAGATATGAATCCATTTCACAGGAAGTACGTTTAGAAACTCGCCCAAGGTCAAACGACCTGCAAGCAACAAAACCCCTCAGAGGTGGCTGGAACAGCGGGACTACAGAGCTCGTGAACTCGGCCGAGGAGGAACCAGGCGAAGCCGGCGGACGCGAGTCCAGGCCGGCCACCAGAAAGACGCCCCGAGCCCGGGGGCCAGGCCCAGAGTTGCGGAGGCCGCCCAGCCCGACCTGATTCAGGCTCCGCTCGCGCGCCCGCGGCCGCTCCCTGCTGGGGGCCGGAGGAGCGGGCACCGAGAGACCCCCAGCCCTGCTCGCGGCCCTCGCCCCGGCTCACCATTGAGGCCCACGGAGGCGACCAAAGGCCGGCGCACGGCCTGGCCGCTCAGCGACTCCCGGCTGAGGAAGGGCCGCTTCAGGTCCAACACAGGCTGCTCCGGGGTGGCGGGCACCGTGGCCTGCACCAAGGGCCGCAGCGCGCCCGCCACCCCGCGGGACGTGGCCGACAGGACGGGCGCGAACGGGCCTGAGCGGGATGCTACCGACAACATGGCGACAGCCGCTCCAACCGCCAAGCCGGTCACAGGGACGACCTTCCAACCACGGCGCAGGCGCGAGGAGGCGCGGGACGCGTGACGACAGCGCGCCGCCGGAAAGGAAATTCTGCAGTCCTGCAGGGCGGGGCAAACTTGGAGAGGCGCTGCGTCGGGGGACGGGGCTACAAGCCGTCGCTGGGGGCGGGGCTTGCGGCCCACCTGTAGGTCCCGGTGCCACCTCGTCAGTGTCCCGAGAGATCCCCAGAAGAACGAGAGGGCTGAACAGGGGACCCCACTGACGTCCGGTGGGCCGACTTTACGATCCTTTAGGGTAAAAATTTCATCTAGGAAGACCTAGAGATAACAATAAACGATTATAGTTTAACTTAGGATGGTAATATATCTCAACTACGACGAAGTCCAGCACATAGTAATCGCTATGTGTTTACTATGATGATTTTTATTATCTTCATCTAACAACAACAACAACAAAAAGGCCAGAGGCATCTGTGCAAAGCTCGATAATGCTAATGGATTATGTTTATTAAGTATTCACTGTGTATTTGGTTTTGCGTTTTATTATACCTACGTTCTTTCATTTGTTATCAAGGTCTCTATGAAGTCAGAGCTATTACTATCAGCATTTTACCCATGAAGAAACCGAGGTTTAGAGAGATTCTTTTCCAGGAACTGGATAGCCAGCAAGATGTGAAGCAGGGTAATCTGTCTCCTGAGTCTATGCTCTTCAGTGCCACCACTGTTTCCCAAAGTAGGATTTTAGAATTTTAGAGGATGCACAGAGCTCGCTCATTCATGTTCCATCACATAGTGAGAAAGTTTTGTTTTCTTTTGTTTTGTTTTTCAATCCTGATTGCACCAATGAGAAAGTCTCAGTTTGGTGCTAATACATCTTTAATTAAAAAAAAAAAAAAGTAGAGATGAGGTCTCACTATATTGCCCACTCCAGTCTCGAACTTCTGGCCTCAAGGAGTCCTGTCTCCCCCTCCCAAAGTACTGGGATTATAGGCATGAGCAAATTCACTTGGCCTCAGTTTGATCCTAATATATCTTTAATTCCTCTCTACACTTATCTCCCACTTTTAACAGAAAAGATCTTGAGTTAGAAGCTCTTAGCAGAGAACTGAGTCTAGAGTGATTTCATTATATGGTTCATAGTATTGATTTTCTATCCATACTGGTTTTCTATTCTGTACTATACTGAGATAAAGTTTTTCATTTAGGTCAAAAATAATTTAAATATTAAGTAAATGTTAATATAAGCAGTGCACAGAATTGGCTCTGTGCTGTGCATGGGCTCTGTGATCTGGGCAAGTTCCCTCACCTCTCTGTGCCTCAGTTTCCTCACCTGCCAAATGGGGGCAGTAATGATGCCATGTGTGTTGTAAAGTTACTGGGAGGAGTAAATGAACTAAAACGTGTAAAGCATCTACAAGCAGGCCCAGCACACAGGCAGCACCAAGTGAGGATTTGCTAGTGGTGTTTTTATCTGAGATGCCACCTCCTCTAAGAAGCCTTCCCTTGATCCTTGCTGACTCGTTGTTATTCCTCATGCCAGGTCCAAAGTGTACTGACAGGTTTCCCCTTTGACCTTCCTATGACTCCCCTTAGGGCCTAGGCTTTGACCAGCCTTATAGCCCAAGGGACTATATTGTACTCTCAAGATTGGAGGCTGCCTCCTCAGGGGCCACCCTAGCCAGGCTCATCACACAGCTGGCTCAGTGCTCTCCCTTGGCAACAACCTTAGGATAAAAGACATTTCCAGAGAAGTTGTCACACAGCATGCATGGTTTGAGTGCTTCACAAGAAATAATATCACAATTCCCTCTGAGTTGGTAAGGAAATGAAAAATGAATGAATGAATGAATGATCCTTCACAAAACCTTCACAATGTCCCAGTTGGGTGAACAGAATAGGAATTATCTCCAGACCTCCTGGGTTCAATTTTAGTTTCACCACTCACTAGCTGTGCCCTAGGGCAAGTTATTTAATCTCTGTGTGTGC
TGACTTTTTAATGACTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTACAGGCAACCTAAAAATTGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCAGCATCACTGGCCATCAGAGAAATGTAAGCCTCCAATTTTTTGAAGAAACTTTAGCAACACGACGAATTCCAAAGATGCTTTTCTTTTGCTATTGAAATGTTCTCCTTCCTTCCTTCTCACCTCCAGGTCCCAAGGATGGGCTAGGGTACTCTACACCTGCCATGGACAGTTTCTTCAAAACCCACTGATGCTCCTTAACAAATATTCATTCACAAATACTTTGCACTAACTGTATACAAAATCCGACGTTGTGAAAGATAGAAAAATAAAGAAGATATTACCTTCTCTATGCCCTTAAGCCCAAGGGTGGAGGAGTTACCAATAAACACAATACAGAGTGTAAAGTGTATGTGCTACAGAGACAGACAAATCAGCAAATAAAAACTTTATTCACCTGATCCTTAACTGAGATTGAAAAGATGGGTAAGGAAAACATATGGACATGTAGCAACTTAGTGGAAGGACCATGAAGAAAGTGCAGAGCCCAGGGTGAATGAAGACAGAGTAAAAAGAAAAGTGGCGGGCAATTTGGTTAGCGTGTAGGGGAAGAGTCACAAACAGCTATCAGTGGAGCCAGGCTGGTAACAGAATGAAACACGCAGACCTGGTAAAGACTGTGACAAACTGGAGAAGACCACTTGCTCCAACTGCGGGGGCGGCCACTACACAGCACACTATGGAATTTTCCCAAGTAGAAACTAGATCCCAGTATTACCGGCTTCCAGCATTTTAAGAGATGCCATTAGTCTTCCCAGTTTTTTTGAAAACTACACAGCCTGCAGACACACTGCCCACAGGCTGCCATTTCTCTATCTCCGATACAGGGCCAAGTAAAGATGGAAGGCGAGGCAAAGAAGATAAACGGGGATCTAAGGACAGAGGGTGTGGAATAGCCCCTGCGAAGAGCTCAGTGGCTACGACAATTCGTCTTGTCAAATCCCTGCTACCACATGTCCACACCACGGATCCTGGTGCGAGTCATTCTACCTCGTCTGTTTTCTCATCTGTAAAATGTAAATGTCGTCAATCTCTGCCCGTCCTTGACGACTGATTATGTTGTGACACTACACTGTAACTGACCTTGTGTATGTTTTTTTTGTTTTTTTTTTGGTGGGGGGGTGATGAAGGGGAAGGACATGAAGGGATCGGTAGTGGTGAGAAGACCAACTTCCCAAATATTAGTAAGTTTCCATTTCTTAAGCATGTAAGTGCCCAAACTGTGCTAACGGCTTTACGTAGAATTCCTCCACCTAAGCCTCACGACACCCCTACAAAATTGATAAAGATATGAATCCATTTCACAGGAAGTACGTTTAGAAACTCGCCCAAGGTCAAACGACCTGCAAGCAACAAAACCCCTCAGAGGTGGCTGGAACAGCGGGACTACAGAGCTCGTGAACTCGGCCGAGGAGGAACCAGGCGAAGCCGGCGGACGCGAGTCCAGGCCGGCCACCAGAAAGACGCCCCGAGCCCGGGGGCCAGGCCCAGAGTTGCGGAGGCCGCCCAGCCCGACCTGATTCAGGCTCCGCTCGCGCGCCCGCGGCCGCTCCCTGCTGGGGGCCGGAGGAGCGGGCACCGAGAGACCCCCAGCCCTGCTCGCGGCCCTCGCCCCGGCTCACCATTGAGGCCCACGGAGGCGACCAAAGGCCGGCGCACGGCCTGGCCGCTCAGCGACTCCCGGCTGAGGAAGGGCCGCTTCAGGTCCAACACAGGCTGCTCCGGGGTGGCGGGCACCGTGGCCTGCACCAAGGGCCGCAGCGCGCCCGCCACCCCGCGGGACGTGGCCGACAGGTCGGGCGCGAACGGGCCTGAGCGGGATGCTACCGACAACATGGCGACAGCCGCTCCAACCGCCAAGCCGGTCACAGGGACGACCTTCCAACCACGGCGCAGGCGCGAGGAGGCGCGGGACGCGTGACGACAGCGCGCCGCCGGAAAGGAAATTCTGCAGTCCTGCAGGGCGGGGCAAACTTGGAGAGGCGCTGCGTCGGGGGACGGGGCTACAAGCCGTCGCTGGGGGCGGGGCTTGCGGCCCACCTGTAGGTCCCGGTGCCACCTCGTCAGTGTCCCGAGAGATCCCCAGAAGAACGAGAGGGCTGAACAGGGGACCCCACTGACGTCCGGTGGGCCGACTTTACGATCCTTTAGGGTAAAAATTTCATCTAGGAAGACCTAGAGATAACAATAAACGATTATAGTTTAACTTAGGATGGTAATATATCTCAACTACGACGAAGTCCAGCACATAGTAATCGCTATGTGTTTACTATGATGATTTTTATTATCTTCATCTAACAACAACAACAACAAAAAGGCCAGAGGCATCTGTGCAAAGCTCGATAATGCTAATGGATTATGTTTATTAAGTATTCACTGTGTATTTGGTTTTGCGTTTTATTATACCTACGTTCTTTCATTTGTTATCAAGGTCTCTATGAAGTCAGAGCTATTACTATCAGCATTTTACCCATGAAGAAACCGAGGTTTAGAGAGATTCTTTTCCAGGAACTGGATAGCCAGCAAGATGTGAAGCAGGGTAATCTGTCTCCTGAGTCTATGCTCTTCAGTGCCACCACTGTTTCCCAAAGTAGGATTTTAGAATTTTAGAGGATGCACAGAGCTCGCTCATTCATGTTCCATCACATAGTGAGAAAGTTTTGTTTTCTTTTGTTTTGTTTTTCAATCCTGATTGCACCAATGAGAAAGTCTCAGTTTGGTGCTAATACATCTTTAATTAAAAAAAAAAAAAAGTAGAGATGAGGTCTCACTATATTGCCCACTCCAGTCTCGAACTTCTGGCCTCAAGGAGTCCTGTCTCCCCCTCCCAAAGTACTGGGATTATAGGCATGAGCAAATTCACTTGGCCTCAGTTTGATCCTAATATATCTTTAATTCCTCTCTACACTTATCTCCCACTTTTAACAGAAAAGATCTTGAGTTAGAAGCTCTTAGCAGAGAACTGAGTCTAGAGTGATTTCATTATATGGTTCATAGTATTGATTTTCTATCCATACTGGTTTTCTATTCTGTACTATACTGAGATAAAGTTTTTCATTTAGGTCAAAAATAATTTAAATATTAAGTAAATGTTAATATAAGCAGTGCACAGAATTGGCTCTGTGCTGTGCATGGGCTCTGTGATCTGGGCAAGTTCCCTCACCTCTCTGTGCCTCAGTTTCCTCACCTGCCAAATGGGGGCAGTAATGATGCCATGTGTGTTGTAAAGTTACTGGGAGGAGTAAATGAACTAAAACGTGTAAAGCATCTACAAGCAGGCCCAGCACACAGGCAGCACCAAGTGAGGATTTGCTAGTGGTGTTTTTATCTGAGATGCCACCTCCTCTAAGAAGCCTTCCCTTGATCCTTGCTGACTCGTTGTTATTCCTCATGCCAGGTCCAAAGTGTACTGACAGGTTTCCCCTTTGACCTTCCTATGACTCCCCTTAGGGCCTAGGCTTTGACCAGCCTTATAGCCCAAGGGACTATATTGTACTCTCAAGATTGGAGGCTGCCTCCTCAGGGGCCACCCTAGCCAGGCTCATCACACAGCTGGCTCAGTGCTCTCCCTTGGCAACAACCTTAGGATAAAAGACATTTCCAGAGAAGTTGTCACACAGCATGCATGGTTTGAGTGCTTCACAAGAAATAATATCACAATTCCCTCTGAGTTGGTAAGGAAATGAAAAATGAATGAATGAATGAATGATCCTTCACAAAACCTTCACAATGTCCCAGTTGGGTGAACAGAATAGGAATTATCTCCAGACCTCCTGGGTTCAATTTTAGTTTCACCACTCACTAGCTGTGCCCTAGGGCAAGTTATTTAATCTCTGTGTGTGC
Task1_train_26994
Here is a mutation in UQCRFS1 (ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Cardiomyopathy
TGACTTTTTAATGACTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTACAGGCAACCTAAAAATTGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCAGCATCACTGGCCATCAGAGAAATGTAAGCCTCCAATTTTTTGAAGAAACTTTAGCAACACGACGAATTCCAAAGATGCTTTTCTTTTGCTATTGAAATGTTCTCCTTCCTTCCTTCTCACCTCCAGGTCCCAAGGATGGGCTAGGGTACTCTACACCTGCCATGGACAGTTTCTTCAAAACCCACTGATGCTCCTTAACAAATATTCATTCACAAATACTTTGCACTAACTGTATACAAAATCCGACGTTGTGAAAGATAGAAAAATAAAGAAGATATTACCTTCTCTATGCCCTTAAGCCCAAGGGTGGAGGAGTTACCAATAAACACAATACAGAGTGTAAAGTGTATGTGCTACAGAGACAGACAAATCAGCAAATAAAAACTTTATTCACCTGATCCTTAACTGAGATTGAAAAGATGGGTAAGGAAAACATATGGACATGTAGCAACTTAGTGGAAGGACCATGAAGAAAGTGCAGAGCCCAGGGTGAATGAAGACAGAGTAAAAAGAAAAGTGGCGGGCAATTTGGTTAGCGTGTAGGGGAAGAGTCACAAACAGCTATCAGTGGAGCCAGGCTGGTAACAGAATGAAACACGCAGACCTGGTAAAGACTGTGACAAACTGGAGAAGACCACTTGCTCCAACTGCGGGGGCGGCCACTACACAGCACACTATGGAATTTTCCCAAGTAGAAACTAGATCCCAGTATTACCGGCTTCCAGCATTTTAAGAGATGCCATTAGTCTTCCCAGTTTTTTTGAAAACTACACAGCCTGCAGACACACTGCCCACAGGCTGCCATTTCTCTATCTCCGATACAGGGCCAAGTAAAGATGGAAGGCGAGGCAAAGAAGATAAACGGGGATCTAAGGACAGAGGGTGTGGAATAGCCCCTGCGAAGAGCTCAGTGGCTACGACAATTCGTCTTGTCAAATCCCTGCTACCACATGTCCACACCACGGATCCTGGTGCGAGTCATTCTACCTCGTCTGTTTTCTCATCTGTAAAATGTAAATGTCGTCAATCTCTGCCCGTCCTTGACGACTGATTATGTTGTGACACTACACTGTAACTGACCTTGTGTATGTTTTTTTTGTTTTTTTTTTGGTGGGGGGGTGATGAAGGGGAAGGACATGAAGGGATCGGTAGTGGTGAGAAGACCAACTTCCCAAATATTAGTAAGTTTCCATTTCTTAAGCATGTAAGTGCCCAAACTGTGCTAACGGCTTTACGTAGAATTCCTCCACCTAAGCCTCACGACACCCCTACAAAATTGATAAAGATATGAATCCATTTCACAGGAAGTACGTTTAGAAACTCGCCCAAGGTCAAACGACCTGCAAGCAACAAAACCCCTCAGAGGTGGCTGGAACAGCGGGACTACAGAGCTCGTGAACTCGGCCGAGGAGGAACCAGGCGAAGCCGGCGGACGCGAGTCCAGGCCGGCCACCAGAAAGACGCCCCGAGCCCGGGGGCCAGGCCCAGAGTTGCGGAGGCCGCCCAGCCCGACCTGATTCAGGCTCCGCTCGCGCGCCCGCGGCCGCTCCCTGCTGGGGGCCGGAGGAGCGGGCACCGAGAGACCCCCAGCCCTGCTCGCGGCCCTCGCCCCGGCTCACCATTGAGGCCCACGGAGGCGACCAAAGGCCGGCGCACGGCCTGGCCGCTCAGCGACTCCCGGCTGAGGAAGGGCCGCTTCAGGTCCAACACAGGCTGCTCCGGGGTGGCGGGCACCGTGGCCTGCACCAAGGGCCGCAGCGCGCCCGCCACCCCGCGGGACGTGGCCGACAGGACGGGCGCGAACGGGCCTGAGCGGGATGCTACCGACAACATGGCGACAGCCGCTCCAACCGCCAAGCCGGTCACAGGGACGACCTTCCAACCACGGCGCAGGCGCGAGGAGGCGCGGGACGCGTGACGACAGCGCGCCGCCGGAAAGGAAATTCTGCAGTCCTGCAGGGCGGGGCAAACTTGGAGAGGCGCTGCGTCGGGGGACGGGGCTACAAGCCGTCGCTGGGGGCGGGGCTTGCGGCCCACCTGTAGGTCCCGGTGCCACCTCGTCAGTGTCCCGAGAGATCCCCAGAAGAACGAGAGGGCTGAACAGGGGACCCCACTGACGTCCGGTGGGCCGACTTTACGATCCTTTAGGGTAAAAATTTCATCTAGGAAGACCTAGAGATAACAATAAACGATTATAGTTTAACTTAGGATGGTAATATATCTCAACTACGACGAAGTCCAGCACATAGTAATCGCTATGTGTTTACTATGATGATTTTTATTATCTTCATCTAACAACAACAACAACAAAAAGGCCAGAGGCATCTGTGCAAAGCTCGATAATGCTAATGGATTATGTTTATTAAGTATTCACTGTGTATTTGGTTTTGCGTTTTATTATACCTACGTTCTTTCATTTGTTATCAAGGTCTCTATGAAGTCAGAGCTATTACTATCAGCATTTTACCCATGAAGAAACCGAGGTTTAGAGAGATTCTTTTCCAGGAACTGGATAGCCAGCAAGATGTGAAGCAGGGTAATCTGTCTCCTGAGTCTATGCTCTTCAGTGCCACCACTGTTTCCCAAAGTAGGATTTTAGAATTTTAGAGGATGCACAGAGCTCGCTCATTCATGTTCCATCACATAGTGAGAAAGTTTTGTTTTCTTTTGTTTTGTTTTTCAATCCTGATTGCACCAATGAGAAAGTCTCAGTTTGGTGCTAATACATCTTTAATTAAAAAAAAAAAAAAGTAGAGATGAGGTCTCACTATATTGCCCACTCCAGTCTCGAACTTCTGGCCTCAAGGAGTCCTGTCTCCCCCTCCCAAAGTACTGGGATTATAGGCATGAGCAAATTCACTTGGCCTCAGTTTGATCCTAATATATCTTTAATTCCTCTCTACACTTATCTCCCACTTTTAACAGAAAAGATCTTGAGTTAGAAGCTCTTAGCAGAGAACTGAGTCTAGAGTGATTTCATTATATGGTTCATAGTATTGATTTTCTATCCATACTGGTTTTCTATTCTGTACTATACTGAGATAAAGTTTTTCATTTAGGTCAAAAATAATTTAAATATTAAGTAAATGTTAATATAAGCAGTGCACAGAATTGGCTCTGTGCTGTGCATGGGCTCTGTGATCTGGGCAAGTTCCCTCACCTCTCTGTGCCTCAGTTTCCTCACCTGCCAAATGGGGGCAGTAATGATGCCATGTGTGTTGTAAAGTTACTGGGAGGAGTAAATGAACTAAAACGTGTAAAGCATCTACAAGCAGGCCCAGCACACAGGCAGCACCAAGTGAGGATTTGCTAGTGGTGTTTTTATCTGAGATGCCACCTCCTCTAAGAAGCCTTCCCTTGATCCTTGCTGACTCGTTGTTATTCCTCATGCCAGGTCCAAAGTGTACTGACAGGTTTCCCCTTTGACCTTCCTATGACTCCCCTTAGGGCCTAGGCTTTGACCAGCCTTATAGCCCAAGGGACTATATTGTACTCTCAAGATTGGAGGCTGCCTCCTCAGGGGCCACCCTAGCCAGGCTCATCACACAGCTGGCTCAGTGCTCTCCCTTGGCAACAACCTTAGGATAAAAGACATTTCCAGAGAAGTTGTCACACAGCATGCATGGTTTGAGTGCTTCACAAGAAATAATATCACAATTCCCTCTGAGTTGGTAAGGAAATGAAAAATGAATGAATGAATGAATGATCCTTCACAAAACCTTCACAATGTCCCAGTTGGGTGAACAGAATAGGAATTATCTCCAGACCTCCTGGGTTCAATTTTAGTTTCACCACTCACTAGCTGTGCCCTAGGGCAAGTTATTTAATCTCTGTGTGTGC
TGACTTTTTAATGACTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTACAGGCAACCTAAAAATTGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCAGCATCACTGGCCATCAGAGAAATGTAAGCCTCCAATTTTTTGAAGAAACTTTAGCAACACGACGAATTCCAAAGATGCTTTTCTTTTGCTATTGAAATGTTCTCCTTCCTTCCTTCTCACCTCCAGGTCCCAAGGATGGGCTAGGGTACTCTACACCTGCCATGGACAGTTTCTTCAAAACCCACTGATGCTCCTTAACAAATATTCATTCACAAATACTTTGCACTAACTGTATACAAAATCCGACGTTGTGAAAGATAGAAAAATAAAGAAGATATTACCTTCTCTATGCCCTTAAGCCCAAGGGTGGAGGAGTTACCAATAAACACAATACAGAGTGTAAAGTGTATGTGCTACAGAGACAGACAAATCAGCAAATAAAAACTTTATTCACCTGATCCTTAACTGAGATTGAAAAGATGGGTAAGGAAAACATATGGACATGTAGCAACTTAGTGGAAGGACCATGAAGAAAGTGCAGAGCCCAGGGTGAATGAAGACAGAGTAAAAAGAAAAGTGGCGGGCAATTTGGTTAGCGTGTAGGGGAAGAGTCACAAACAGCTATCAGTGGAGCCAGGCTGGTAACAGAATGAAACACGCAGACCTGGTAAAGACTGTGACAAACTGGAGAAGACCACTTGCTCCAACTGCGGGGGCGGCCACTACACAGCACACTATGGAATTTTCCCAAGTAGAAACTAGATCCCAGTATTACCGGCTTCCAGCATTTTAAGAGATGCCATTAGTCTTCCCAGTTTTTTTGAAAACTACACAGCCTGCAGACACACTGCCCACAGGCTGCCATTTCTCTATCTCCGATACAGGGCCAAGTAAAGATGGAAGGCGAGGCAAAGAAGATAAACGGGGATCTAAGGACAGAGGGTGTGGAATAGCCCCTGCGAAGAGCTCAGTGGCTACGACAATTCGTCTTGTCAAATCCCTGCTACCACATGTCCACACCACGGATCCTGGTGCGAGTCATTCTACCTCGTCTGTTTTCTCATCTGTAAAATGTAAATGTCGTCAATCTCTGCCCGTCCTTGACGACTGATTATGTTGTGACACTACACTGTAACTGACCTTGTGTATGTTTTTTTTGTTTTTTTTTTGGTGGGGGGGTGATGAAGGGGAAGGACATGAAGGGATCGGTAGTGGTGAGAAGACCAACTTCCCAAATATTAGTAAGTTTCCATTTCTTAAGCATGTAAGTGCCCAAACTGTGCTAACGGCTTTACGTAGAATTCCTCCACCTAAGCCTCACGACACCCCTACAAAATTGATAAAGATATGAATCCATTTCACAGGAAGTACGTTTAGAAACTCGCCCAAGGTCAAACGACCTGCAAGCAACAAAACCCCTCAGAGGTGGCTGGAACAGCGGGACTACAGAGCTCGTGAACTCGGCCGAGGAGGAACCAGGCGAAGCCGGCGGACGCGAGTCCAGGCCGGCCACCAGAAAGACGCCCCGAGCCCGGGGGCCAGGCCCAGAGTTGCGGAGGCCGCCCAGCCCGACCTGATTCAGGCTCCGCTCGCGCGCCCGCGGCCGCTCCCTGCTGGGGGCCGGAGGAGCGGGCACCGAGAGACCCCCAGCCCTGCTCGCGGCCCTCGCCCCGGCTCACCATTGAGGCCCACGGAGGCGACCAAAGGCCGGCGCACGGCCTGGCCGCTCAGCGACTCCCGGCTGAGGAAGGGCCGCTTCAGGTCCAACACAGGCTGCTCCGGGGTGGCGGGCACCGTGGCCTGCACCAAGGGCCGCAGCGCGCCCGCCACCCCGCGGGACGTGGCCGACAGGTCGGGCGCGAACGGGCCTGAGCGGGATGCTACCGACAACATGGCGACAGCCGCTCCAACCGCCAAGCCGGTCACAGGGACGACCTTCCAACCACGGCGCAGGCGCGAGGAGGCGCGGGACGCGTGACGACAGCGCGCCGCCGGAAAGGAAATTCTGCAGTCCTGCAGGGCGGGGCAAACTTGGAGAGGCGCTGCGTCGGGGGACGGGGCTACAAGCCGTCGCTGGGGGCGGGGCTTGCGGCCCACCTGTAGGTCCCGGTGCCACCTCGTCAGTGTCCCGAGAGATCCCCAGAAGAACGAGAGGGCTGAACAGGGGACCCCACTGACGTCCGGTGGGCCGACTTTACGATCCTTTAGGGTAAAAATTTCATCTAGGAAGACCTAGAGATAACAATAAACGATTATAGTTTAACTTAGGATGGTAATATATCTCAACTACGACGAAGTCCAGCACATAGTAATCGCTATGTGTTTACTATGATGATTTTTATTATCTTCATCTAACAACAACAACAACAAAAAGGCCAGAGGCATCTGTGCAAAGCTCGATAATGCTAATGGATTATGTTTATTAAGTATTCACTGTGTATTTGGTTTTGCGTTTTATTATACCTACGTTCTTTCATTTGTTATCAAGGTCTCTATGAAGTCAGAGCTATTACTATCAGCATTTTACCCATGAAGAAACCGAGGTTTAGAGAGATTCTTTTCCAGGAACTGGATAGCCAGCAAGATGTGAAGCAGGGTAATCTGTCTCCTGAGTCTATGCTCTTCAGTGCCACCACTGTTTCCCAAAGTAGGATTTTAGAATTTTAGAGGATGCACAGAGCTCGCTCATTCATGTTCCATCACATAGTGAGAAAGTTTTGTTTTCTTTTGTTTTGTTTTTCAATCCTGATTGCACCAATGAGAAAGTCTCAGTTTGGTGCTAATACATCTTTAATTAAAAAAAAAAAAAAGTAGAGATGAGGTCTCACTATATTGCCCACTCCAGTCTCGAACTTCTGGCCTCAAGGAGTCCTGTCTCCCCCTCCCAAAGTACTGGGATTATAGGCATGAGCAAATTCACTTGGCCTCAGTTTGATCCTAATATATCTTTAATTCCTCTCTACACTTATCTCCCACTTTTAACAGAAAAGATCTTGAGTTAGAAGCTCTTAGCAGAGAACTGAGTCTAGAGTGATTTCATTATATGGTTCATAGTATTGATTTTCTATCCATACTGGTTTTCTATTCTGTACTATACTGAGATAAAGTTTTTCATTTAGGTCAAAAATAATTTAAATATTAAGTAAATGTTAATATAAGCAGTGCACAGAATTGGCTCTGTGCTGTGCATGGGCTCTGTGATCTGGGCAAGTTCCCTCACCTCTCTGTGCCTCAGTTTCCTCACCTGCCAAATGGGGGCAGTAATGATGCCATGTGTGTTGTAAAGTTACTGGGAGGAGTAAATGAACTAAAACGTGTAAAGCATCTACAAGCAGGCCCAGCACACAGGCAGCACCAAGTGAGGATTTGCTAGTGGTGTTTTTATCTGAGATGCCACCTCCTCTAAGAAGCCTTCCCTTGATCCTTGCTGACTCGTTGTTATTCCTCATGCCAGGTCCAAAGTGTACTGACAGGTTTCCCCTTTGACCTTCCTATGACTCCCCTTAGGGCCTAGGCTTTGACCAGCCTTATAGCCCAAGGGACTATATTGTACTCTCAAGATTGGAGGCTGCCTCCTCAGGGGCCACCCTAGCCAGGCTCATCACACAGCTGGCTCAGTGCTCTCCCTTGGCAACAACCTTAGGATAAAAGACATTTCCAGAGAAGTTGTCACACAGCATGCATGGTTTGAGTGCTTCACAAGAAATAATATCACAATTCCCTCTGAGTTGGTAAGGAAATGAAAAATGAATGAATGAATGAATGATCCTTCACAAAACCTTCACAATGTCCCAGTTGGGTGAACAGAATAGGAATTATCTCCAGACCTCCTGGGTTCAATTTTAGTTTCACCACTCACTAGCTGTGCCCTAGGGCAAGTTATTTAATCTCTGTGTGTGC
Task1_train_26995
A variant on Chromosome 19 in gene UQCRFS1 (ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Propionic acidemia
TGACTTTTTAATGACTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTACAGGCAACCTAAAAATTGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCAGCATCACTGGCCATCAGAGAAATGTAAGCCTCCAATTTTTTGAAGAAACTTTAGCAACACGACGAATTCCAAAGATGCTTTTCTTTTGCTATTGAAATGTTCTCCTTCCTTCCTTCTCACCTCCAGGTCCCAAGGATGGGCTAGGGTACTCTACACCTGCCATGGACAGTTTCTTCAAAACCCACTGATGCTCCTTAACAAATATTCATTCACAAATACTTTGCACTAACTGTATACAAAATCCGACGTTGTGAAAGATAGAAAAATAAAGAAGATATTACCTTCTCTATGCCCTTAAGCCCAAGGGTGGAGGAGTTACCAATAAACACAATACAGAGTGTAAAGTGTATGTGCTACAGAGACAGACAAATCAGCAAATAAAAACTTTATTCACCTGATCCTTAACTGAGATTGAAAAGATGGGTAAGGAAAACATATGGACATGTAGCAACTTAGTGGAAGGACCATGAAGAAAGTGCAGAGCCCAGGGTGAATGAAGACAGAGTAAAAAGAAAAGTGGCGGGCAATTTGGTTAGCGTGTAGGGGAAGAGTCACAAACAGCTATCAGTGGAGCCAGGCTGGTAACAGAATGAAACACGCAGACCTGGTAAAGACTGTGACAAACTGGAGAAGACCACTTGCTCCAACTGCGGGGGCGGCCACTACACAGCACACTATGGAATTTTCCCAAGTAGAAACTAGATCCCAGTATTACCGGCTTCCAGCATTTTAAGAGATGCCATTAGTCTTCCCAGTTTTTTTGAAAACTACACAGCCTGCAGACACACTGCCCACAGGCTGCCATTTCTCTATCTCCGATACAGGGCCAAGTAAAGATGGAAGGCGAGGCAAAGAAGATAAACGGGGATCTAAGGACAGAGGGTGTGGAATAGCCCCTGCGAAGAGCTCAGTGGCTACGACAATTCGTCTTGTCAAATCCCTGCTACCACATGTCCACACCACGGATCCTGGTGCGAGTCATTCTACCTCGTCTGTTTTCTCATCTGTAAAATGTAAATGTCGTCAATCTCTGCCCGTCCTTGACGACTGATTATGTTGTGACACTACACTGTAACTGACCTTGTGTATGTTTTTTTTGTTTTTTTTTTGGTGGGGGGGTGATGAAGGGGAAGGACATGAAGGGATCGGTAGTGGTGAGAAGACCAACTTCCCAAATATTAGTAAGTTTCCATTTCTTAAGCATGTAAGTGCCCAAACTGTGCTAACGGCTTTACGTAGAATTCCTCCACCTAAGCCTCACGACACCCCTACAAAATTGATAAAGATATGAATCCATTTCACAGGAAGTACGTTTAGAAACTCGCCCAAGGTCAAACGACCTGCAAGCAACAAAACCCCTCAGAGGTGGCTGGAACAGCGGGACTACAGAGCTCGTGAACTCGGCCGAGGAGGAACCAGGCGAAGCCGGCGGACGCGAGTCCAGGCCGGCCACCAGAAAGACGCCCCGAGCCCGGGGGCCAGGCCCAGAGTTGCGGAGGCCGCCCAGCCCGACCTGATTCAGGCTCCGCTCGCGCGCCCGCGGCCGCTCCCTGCTGGGGGCCGGAGGAGCGGGCACCGAGAGACCCCCAGCCCTGCTCGCGGCCCTCGCCCCGGCTCACCATTGAGGCCCACGGAGGCGACCAAAGGCCGGCGCACGGCCTGGCCGCTCAGCGACTCCCGGCTGAGGAAGGGCCGCTTCAGGTCCAACACAGGCTGCTCCGGGGTGGCGGGCACCGTGGCCTGCACCAAGGGCCGCAGCGCGCCCGCCACCCCGCGGGACGTGGCCGACAGGACGGGCGCGAACGGGCCTGAGCGGGATGCTACCGACAACATGGCGACAGCCGCTCCAACCGCCAAGCCGGTCACAGGGACGACCTTCCAACCACGGCGCAGGCGCGAGGAGGCGCGGGACGCGTGACGACAGCGCGCCGCCGGAAAGGAAATTCTGCAGTCCTGCAGGGCGGGGCAAACTTGGAGAGGCGCTGCGTCGGGGGACGGGGCTACAAGCCGTCGCTGGGGGCGGGGCTTGCGGCCCACCTGTAGGTCCCGGTGCCACCTCGTCAGTGTCCCGAGAGATCCCCAGAAGAACGAGAGGGCTGAACAGGGGACCCCACTGACGTCCGGTGGGCCGACTTTACGATCCTTTAGGGTAAAAATTTCATCTAGGAAGACCTAGAGATAACAATAAACGATTATAGTTTAACTTAGGATGGTAATATATCTCAACTACGACGAAGTCCAGCACATAGTAATCGCTATGTGTTTACTATGATGATTTTTATTATCTTCATCTAACAACAACAACAACAAAAAGGCCAGAGGCATCTGTGCAAAGCTCGATAATGCTAATGGATTATGTTTATTAAGTATTCACTGTGTATTTGGTTTTGCGTTTTATTATACCTACGTTCTTTCATTTGTTATCAAGGTCTCTATGAAGTCAGAGCTATTACTATCAGCATTTTACCCATGAAGAAACCGAGGTTTAGAGAGATTCTTTTCCAGGAACTGGATAGCCAGCAAGATGTGAAGCAGGGTAATCTGTCTCCTGAGTCTATGCTCTTCAGTGCCACCACTGTTTCCCAAAGTAGGATTTTAGAATTTTAGAGGATGCACAGAGCTCGCTCATTCATGTTCCATCACATAGTGAGAAAGTTTTGTTTTCTTTTGTTTTGTTTTTCAATCCTGATTGCACCAATGAGAAAGTCTCAGTTTGGTGCTAATACATCTTTAATTAAAAAAAAAAAAAAGTAGAGATGAGGTCTCACTATATTGCCCACTCCAGTCTCGAACTTCTGGCCTCAAGGAGTCCTGTCTCCCCCTCCCAAAGTACTGGGATTATAGGCATGAGCAAATTCACTTGGCCTCAGTTTGATCCTAATATATCTTTAATTCCTCTCTACACTTATCTCCCACTTTTAACAGAAAAGATCTTGAGTTAGAAGCTCTTAGCAGAGAACTGAGTCTAGAGTGATTTCATTATATGGTTCATAGTATTGATTTTCTATCCATACTGGTTTTCTATTCTGTACTATACTGAGATAAAGTTTTTCATTTAGGTCAAAAATAATTTAAATATTAAGTAAATGTTAATATAAGCAGTGCACAGAATTGGCTCTGTGCTGTGCATGGGCTCTGTGATCTGGGCAAGTTCCCTCACCTCTCTGTGCCTCAGTTTCCTCACCTGCCAAATGGGGGCAGTAATGATGCCATGTGTGTTGTAAAGTTACTGGGAGGAGTAAATGAACTAAAACGTGTAAAGCATCTACAAGCAGGCCCAGCACACAGGCAGCACCAAGTGAGGATTTGCTAGTGGTGTTTTTATCTGAGATGCCACCTCCTCTAAGAAGCCTTCCCTTGATCCTTGCTGACTCGTTGTTATTCCTCATGCCAGGTCCAAAGTGTACTGACAGGTTTCCCCTTTGACCTTCCTATGACTCCCCTTAGGGCCTAGGCTTTGACCAGCCTTATAGCCCAAGGGACTATATTGTACTCTCAAGATTGGAGGCTGCCTCCTCAGGGGCCACCCTAGCCAGGCTCATCACACAGCTGGCTCAGTGCTCTCCCTTGGCAACAACCTTAGGATAAAAGACATTTCCAGAGAAGTTGTCACACAGCATGCATGGTTTGAGTGCTTCACAAGAAATAATATCACAATTCCCTCTGAGTTGGTAAGGAAATGAAAAATGAATGAATGAATGAATGATCCTTCACAAAACCTTCACAATGTCCCAGTTGGGTGAACAGAATAGGAATTATCTCCAGACCTCCTGGGTTCAATTTTAGTTTCACCACTCACTAGCTGTGCCCTAGGGCAAGTTATTTAATCTCTGTGTGTGC
TGACTTTTTAATGACTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTACAGGCAACCTAAAAATTGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCAGCATCACTGGCCATCAGAGAAATGTAAGCCTCCAATTTTTTGAAGAAACTTTAGCAACACGACGAATTCCAAAGATGCTTTTCTTTTGCTATTGAAATGTTCTCCTTCCTTCCTTCTCACCTCCAGGTCCCAAGGATGGGCTAGGGTACTCTACACCTGCCATGGACAGTTTCTTCAAAACCCACTGATGCTCCTTAACAAATATTCATTCACAAATACTTTGCACTAACTGTATACAAAATCCGACGTTGTGAAAGATAGAAAAATAAAGAAGATATTACCTTCTCTATGCCCTTAAGCCCAAGGGTGGAGGAGTTACCAATAAACACAATACAGAGTGTAAAGTGTATGTGCTACAGAGACAGACAAATCAGCAAATAAAAACTTTATTCACCTGATCCTTAACTGAGATTGAAAAGATGGGTAAGGAAAACATATGGACATGTAGCAACTTAGTGGAAGGACCATGAAGAAAGTGCAGAGCCCAGGGTGAATGAAGACAGAGTAAAAAGAAAAGTGGCGGGCAATTTGGTTAGCGTGTAGGGGAAGAGTCACAAACAGCTATCAGTGGAGCCAGGCTGGTAACAGAATGAAACACGCAGACCTGGTAAAGACTGTGACAAACTGGAGAAGACCACTTGCTCCAACTGCGGGGGCGGCCACTACACAGCACACTATGGAATTTTCCCAAGTAGAAACTAGATCCCAGTATTACCGGCTTCCAGCATTTTAAGAGATGCCATTAGTCTTCCCAGTTTTTTTGAAAACTACACAGCCTGCAGACACACTGCCCACAGGCTGCCATTTCTCTATCTCCGATACAGGGCCAAGTAAAGATGGAAGGCGAGGCAAAGAAGATAAACGGGGATCTAAGGACAGAGGGTGTGGAATAGCCCCTGCGAAGAGCTCAGTGGCTACGACAATTCGTCTTGTCAAATCCCTGCTACCACATGTCCACACCACGGATCCTGGTGCGAGTCATTCTACCTCGTCTGTTTTCTCATCTGTAAAATGTAAATGTCGTCAATCTCTGCCCGTCCTTGACGACTGATTATGTTGTGACACTACACTGTAACTGACCTTGTGTATGTTTTTTTTGTTTTTTTTTTGGTGGGGGGGTGATGAAGGGGAAGGACATGAAGGGATCGGTAGTGGTGAGAAGACCAACTTCCCAAATATTAGTAAGTTTCCATTTCTTAAGCATGTAAGTGCCCAAACTGTGCTAACGGCTTTACGTAGAATTCCTCCACCTAAGCCTCACGACACCCCTACAAAATTGATAAAGATATGAATCCATTTCACAGGAAGTACGTTTAGAAACTCGCCCAAGGTCAAACGACCTGCAAGCAACAAAACCCCTCAGAGGTGGCTGGAACAGCGGGACTACAGAGCTCGTGAACTCGGCCGAGGAGGAACCAGGCGAAGCCGGCGGACGCGAGTCCAGGCCGGCCACCAGAAAGACGCCCCGAGCCCGGGGGCCAGGCCCAGAGTTGCGGAGGCCGCCCAGCCCGACCTGATTCAGGCTCCGCTCGCGCGCCCGCGGCCGCTCCCTGCTGGGGGCCGGAGGAGCGGGCACCGAGAGACCCCCAGCCCTGCTCGCGGCCCTCGCCCCGGCTCACCATTGAGGCCCACGGAGGCGACCAAAGGCCGGCGCACGGCCTGGCCGCTCAGCGACTCCCGGCTGAGGAAGGGCCGCTTCAGGTCCAACACAGGCTGCTCCGGGGTGGCGGGCACCGTGGCCTGCACCAAGGGCCGCAGCGCGCCCGCCACCCCGCGGGACGTGGCCGACAGGTCGGGCGCGAACGGGCCTGAGCGGGATGCTACCGACAACATGGCGACAGCCGCTCCAACCGCCAAGCCGGTCACAGGGACGACCTTCCAACCACGGCGCAGGCGCGAGGAGGCGCGGGACGCGTGACGACAGCGCGCCGCCGGAAAGGAAATTCTGCAGTCCTGCAGGGCGGGGCAAACTTGGAGAGGCGCTGCGTCGGGGGACGGGGCTACAAGCCGTCGCTGGGGGCGGGGCTTGCGGCCCACCTGTAGGTCCCGGTGCCACCTCGTCAGTGTCCCGAGAGATCCCCAGAAGAACGAGAGGGCTGAACAGGGGACCCCACTGACGTCCGGTGGGCCGACTTTACGATCCTTTAGGGTAAAAATTTCATCTAGGAAGACCTAGAGATAACAATAAACGATTATAGTTTAACTTAGGATGGTAATATATCTCAACTACGACGAAGTCCAGCACATAGTAATCGCTATGTGTTTACTATGATGATTTTTATTATCTTCATCTAACAACAACAACAACAAAAAGGCCAGAGGCATCTGTGCAAAGCTCGATAATGCTAATGGATTATGTTTATTAAGTATTCACTGTGTATTTGGTTTTGCGTTTTATTATACCTACGTTCTTTCATTTGTTATCAAGGTCTCTATGAAGTCAGAGCTATTACTATCAGCATTTTACCCATGAAGAAACCGAGGTTTAGAGAGATTCTTTTCCAGGAACTGGATAGCCAGCAAGATGTGAAGCAGGGTAATCTGTCTCCTGAGTCTATGCTCTTCAGTGCCACCACTGTTTCCCAAAGTAGGATTTTAGAATTTTAGAGGATGCACAGAGCTCGCTCATTCATGTTCCATCACATAGTGAGAAAGTTTTGTTTTCTTTTGTTTTGTTTTTCAATCCTGATTGCACCAATGAGAAAGTCTCAGTTTGGTGCTAATACATCTTTAATTAAAAAAAAAAAAAAGTAGAGATGAGGTCTCACTATATTGCCCACTCCAGTCTCGAACTTCTGGCCTCAAGGAGTCCTGTCTCCCCCTCCCAAAGTACTGGGATTATAGGCATGAGCAAATTCACTTGGCCTCAGTTTGATCCTAATATATCTTTAATTCCTCTCTACACTTATCTCCCACTTTTAACAGAAAAGATCTTGAGTTAGAAGCTCTTAGCAGAGAACTGAGTCTAGAGTGATTTCATTATATGGTTCATAGTATTGATTTTCTATCCATACTGGTTTTCTATTCTGTACTATACTGAGATAAAGTTTTTCATTTAGGTCAAAAATAATTTAAATATTAAGTAAATGTTAATATAAGCAGTGCACAGAATTGGCTCTGTGCTGTGCATGGGCTCTGTGATCTGGGCAAGTTCCCTCACCTCTCTGTGCCTCAGTTTCCTCACCTGCCAAATGGGGGCAGTAATGATGCCATGTGTGTTGTAAAGTTACTGGGAGGAGTAAATGAACTAAAACGTGTAAAGCATCTACAAGCAGGCCCAGCACACAGGCAGCACCAAGTGAGGATTTGCTAGTGGTGTTTTTATCTGAGATGCCACCTCCTCTAAGAAGCCTTCCCTTGATCCTTGCTGACTCGTTGTTATTCCTCATGCCAGGTCCAAAGTGTACTGACAGGTTTCCCCTTTGACCTTCCTATGACTCCCCTTAGGGCCTAGGCTTTGACCAGCCTTATAGCCCAAGGGACTATATTGTACTCTCAAGATTGGAGGCTGCCTCCTCAGGGGCCACCCTAGCCAGGCTCATCACACAGCTGGCTCAGTGCTCTCCCTTGGCAACAACCTTAGGATAAAAGACATTTCCAGAGAAGTTGTCACACAGCATGCATGGTTTGAGTGCTTCACAAGAAATAATATCACAATTCCCTCTGAGTTGGTAAGGAAATGAAAAATGAATGAATGAATGAATGATCCTTCACAAAACCTTCACAATGTCCCAGTTGGGTGAACAGAATAGGAATTATCTCCAGACCTCCTGGGTTCAATTTTAGTTTCACCACTCACTAGCTGTGCCCTAGGGCAAGTTATTTAATCTCTGTGTGTGC
Task1_train_26996
This alteration occurs within gene C19orf12 (chromosome 19 open reading frame 12) located on Chromosome 19. Is it associated with a disease or is it a benign variant?
Pathogenic; Neurodegeneration with brain iron accumulation 4
CTGCAAGAGAAAGGCTCGGCCCTTCCTTAATCACCATGGGTTATAATTCACCCTGACGTCCTTACACACATGGAGGTGCCAGGATACTGAGCTTTCCTATAAGCAGGGCCTCAGCAGAAGTGCCTCCCTCCGAGCCTCCAGGGCCTGAGAGGAGAGCCCCAAGTCCCTGCCCTGCCCCAGGACCTGGGGACCAAGGAATAACATTTTTTGTAGAGATGGAGGTCTCACTATATTGCCCAGGCTAGTTTCAAACTCTTGGCCTCAAGCGATCCTCCCACTTTGGCCTCCAAAAGTGCCGACATTACAAGCATGAGCCACCTCACCTGACCTACTCTTGCATTCTTTAAAGCCACAAATCTGGTACCTTCCCTCTTGTTCCATTTGTAAGACTTTGAATATTAGAGATATTTTACACATAATATGTGGGAAAATGGCTTTTTAGAAAAACATTTATTGTAATCGATCACATTCAAGTCGTAGTTCTGAAAGCAAAGTGAAAACACACAGTACAGCTATGCCTCAGTATCCATGGGGGATGGGTTCCAGGACTGCAACCTCAACCCTCAGACACCGACATCTGAGGATGCTCAAGTCCCTGATGGGCAATGGCATAGCGTTTGCACGTAACCTACGCACACCTTCCTGTATAATTTAAATCATCTCTAGATTTCTTATAATACCAAATACAATATAAATGCTATGTAAATATGCTACACCATATTGTTTAGGGAATAATGGCAAGAAAAAAAGGTCTGTACGTGTTCAGTACCAATGCAATTTCTTTTTTCAAATATTTCCTATCCAAGGCTGGTTGGATCTAAATGTGGAGACCACAGTTACGGAGAGCTGACTGTACTGGGGAAATCTTTAGGGTAGAAACATTTCTTAGAGATGGTTTATATCACACCACTTCAGAAAGAGCAATACAGGCATACCTCATTCTACTATGCTTTGTGAATACTGTGTTTTTTTTTTAAATTGAAGGTTTGTAGCAGCCTGGCATCAGGCAAGTCTATTTGGCACCATTTTCCAACAGCATGTGCTCACTTTGCGTTTCTGTGTCAGCATTTTGAACAGTAAATATTTTTAAATTAAGGTTTGTACATTTGTTAGACATAATGCTATTGCACATTTAGTGGACTGCAATATGCAGTAAACATGACTTAGATGCACTGGGAAACTAAAACAATGCGCTTCCTTGCTTTATTGTGATGTTGGCTTTACCGAGGTGGTCTGGAACTGAACCCACAATATCTCCGAGATATACCTGTACTTTTTACTAAAAATATTTCATTTGAGAAGTAAACCTCAAGAACTACCAGGACTTTTCAGATGGGAAGAGCGAGGCCCTGGCAGGGCGAGTCTAGGTGTGCAGCCTAGTGGGGGCCGGGGTCAAGTCCACTCGGTATTTGTGGCTTCACTCAGCAGGCCGCCCGTCCCCTCCGTGGGGCCATTCGACAGTCCCTGGGTAGGGGACGGTTGCACTAGGAGGTAAACATGATTCCAGCATGGGCTGCTCCAAGGCCCTGAGACCCCAGGACCTGCAGGGGGGTGGGATCCAGTCCTGCAGCAGGTGCTCTGAAGAGGAGTCATCTCCCAAGATGAGAAGGCCCCGGGGGGAGGATGAAGTGTGGTCAGACCGTCGGCTGAGCGTGATCACTTCCCCAGACCCATGCGGGTGAGAGGACTCAGCAGACGCCTCCGAAGCCTGCGGCAGGCAGGCCTTTACTCTTCACTGGGGGGCCAGTCAGAGGGCTGTCATGGCAGGCCAGTGCACATGCCACCAACACATGCTGCTTCATCAGTAATTTCTGGAACATGACACTGCACAGCGGTGGCCTCTCCAGCGGGACATTACTAGTAATACACTGATGATGTGGAGATTCCCCAGGGGGCATCCGCTGGGCTTCTCCCAACTCCCAAGCCACCTCTTCAGAATCACAGAGTCATTTAAAGGGGCCCCCCACCTCCCCGGAGGTGCGGCCTAGTCATCATACTGGATCTCGGCCCGCAGCTCCTTGGTGACGTAGTTCACCAGCATGGCCAGCAGCTGCTGCTGCAGGGCCTCGCTGCCCATGACCAGCGCGGTCAGCTGCACGGCGTCCGTCCACTCCAGGTGCCTGATGATGGCTGCGGCTTCGTTAAAGAGCCTCTGTTGCTCGGCAGGGGGCAGCTCCATTAGGATCTGAGGAACCGGCTTAAACTGTCCACTTGTCATCCAGGCACCTAACAGCCCCCCGACAGCCCCCCCTAGAAAACATGGAATCGTTCAATTAGTGGGTCTTATTCATAAGCGATGGCCTTACTTAAGTTCCCACTGAGTGCACACCACCATCACCATGAGCAGGCACATTCATGAGCGGGCTGCAGCGGGCTCAGCCGGTGCCACGCCTGCTCCGCCAGCCAGTGTGGAGGGCAAAGGTTTATGCAGTCTTCTGTCCATTTGGCTCAGATAATTGACACCCAACATGCATTCCCTGGGCTCCACATTTAAGGATGCAAAATGAAGCCTGCCTGCCCCATCTCCCACCTCAGTGCTGGGCCCACTTTCTTCTTCATGAGCTGACGGAGGTTTCTGGGCTTACTGTAAAAATCCCTCTCTAATCACAAAGGAGAAGGCTGAGAAACAAATGCATTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCGCTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTGTATTTTTGTAGAAACAGGGTTTCACCATGTTGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTACCTCGGCCCCGCAAAGTGCTGGGATTATAGGCATGAGCCACCACAACCAGCCACAAATGCATTTTCAAGAGAAACCATCTCAGGCTGGGTGCGGTGGCTCATGCCTGTAATATCAGCAATTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCGACACCAGCCTGGCCGACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGGGGCACATGCCTGTAATCCCAGATACTTGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAAGTAGAGGTTGCAGTGAGCCGAGATCATACCCTTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAGAAACCATCTCAGTGGTGAGACTGAATTTCCTCCACCAGGCAGCTGATATGCTCCTTGCCCCTGAACTTAGAAAATCTTCAGTGAGCCCATGTGGTTAAAGGACCTGGGGACAGATAAGGAGGCTCTTTCCTCTTGAAGCAGTGCTTTTCATAGATCCCCTCCAAGTTGTATGATCGATAAATAACAAACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCGAATCACGAGGTCAGGAGTTGGAGACTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATAGTGGTGGGTGCCTGTAATCCCAGCTACTGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAATATCAAATGTAAGGTAGCTTACTATTTCTACTTCTGCCACCCTAAAAGGGCAGAAACATTATTGTTAAATGTAAACTCATTGCCAAGGCTATGTCATGCTATTCTGGGACTTAAAGACCTTGTATCCACGGAAAGTTCTACCTGAAGAGGCCACGTGCAGAATATGGTGCAGAGAAGCGGAAGGTGCCCTAGGGAAGGGGTCCAAAGTCAAGTGCCTCCAAGAGCCAGGGAGGAACTAAGAAGAGTGAAGGGGCGGTTGGGCCTTACCCGGCCTCTCCCCTGCTGAGATTGGATGGGTGGCAGGCTCTGACTTCATCCCAGTCTATAGTCTGGGCCAACCAAG
CTGCAAGAGAAAGGCTCGGCCCTTCCTTAATCACCATGGGTTATAATTCACCCTGACGTCCTTACACACATGGAGGTGCCAGGATACTGAGCTTTCCTATAAGCAGGGCCTCAGCAGAAGTGCCTCCCTCCGAGCCTCCAGGGCCTGAGAGGAGAGCCCCAAGTCCCTGCCCTGCCCCAGGACCTGGGGACCAAGGAATAACATTTTTTGTAGAGATGGAGGTCTCACTATATTGCCCAGGCTAGTTTCAAACTCTTGGCCTCAAGCGATCCTCCCACTTTGGCCTCCAAAAGTGCCGACATTACAAGCATGAGCCACCTCACCTGACCTACTCTTGCATTCTTTAAAGCCACAAATCTGGTACCTTCCCTCTTGTTCCATTTGTAAGACTTTGAATATTAGAGATATTTTACACATAATATGTGGGAAAATGGCTTTTTAGAAAAACATTTATTGTAATCGATCACATTCAAGTCGTAGTTCTGAAAGCAAAGTGAAAACACACAGTACAGCTATGCCTCAGTATCCATGGGGGATGGGTTCCAGGACTGCAACCTCAACCCTCAGACACCGACATCTGAGGATGCTCAAGTCCCTGATGGGCAATGGCATAGCGTTTGCACGTAACCTACGCACACCTTCCTGTATAATTTAAATCATCTCTAGATTTCTTATAATACCAAATACAATATAAATGCTATGTAAATATGCTACACCATATTGTTTAGGGAATAATGGCAAGAAAAAAAGGTCTGTACGTGTTCAGTACCAATGCAATTTCTTTTTTCAAATATTTCCTATCCAAGGCTGGTTGGATCTAAATGTGGAGACCACAGTTACGGAGAGCTGACTGTACTGGGGAAATCTTTAGGGTAGAAACATTTCTTAGAGATGGTTTATATCACACCACTTCAGAAAGAGCAATACAGGCATACCTCATTCTACTATGCTTTGTGAATACTGTGTTTTTTTTTTAAATTGAAGGTTTGTAGCAGCCTGGCATCAGGCAAGTCTATTTGGCACCATTTTCCAACAGCATGTGCTCACTTTGCGTTTCTGTGTCAGCATTTTGAACAGTAAATATTTTTAAATTAAGGTTTGTACATTTGTTAGACATAATGCTATTGCACATTTAGTGGACTGCAATATGCAGTAAACATGACTTAGATGCACTGGGAAACTAAAACAATGCGCTTCCTTGCTTTATTGTGATGTTGGCTTTACCGAGGTGGTCTGGAACTGAACCCACAATATCTCCGAGATATACCTGTACTTTTTACTAAAAATATTTCATTTGAGAAGTAAACCTCAAGAACTACCAGGACTTTTCAGATGGGAAGAGCGAGGCCCTGGCAGGGCGAGTCTAGGTGTGCAGCCTAGTGGGGGCCGGGGTCAAGTCCACTCGGTATTTGTGGCTTCACTCAGCAGGCCGCCCGTCCCCTCCGTGGGGCCATTCGACAGTCCCTGGGTAGGGGACGGTTGCACTAGGAGGTAAACATGATTCCAGCATGGGCTGCTCCAAGGCCCTGAGACCCCAGGACCTGCAGGGGGGTGGGATCCAGTCCTGCAGCAGGTGCTCTGAAGAGGAGTCATCTCCCAAGATGAGAAGGCCCCGGGGGGAGGATGAAGTGTGGTCAGACCGTCGGCTGAGCGTGATCACTTCCCCAGACCCATGCGGGTGAGAGGACTCAGCAGACGCCTCCGAAGCCTGCGGCAGGCAGGCCTTTACTCTTCACTGGGGGGCCAGTCAGAGGGCTGTCATGGCAGGCCAGTGCACATGCCACCAACACATGCTGCTTCATCAGTAATTTCTGGAACATGACACTGCACAGCGGTGGCCTCTCCAGCGGGACATTACTAGTAATACACTGATGATGTGGAGATTCCCCAGGGGGCATCCGCTGGGCTTCTCCCAACTCCCAAGCCACCTCTTCAGAATCACAGAGTCATTTAAAGGGGCCCCCCACCTCCCCGGAGGTGCGGCCTAGTCATCATACTGGATCTCGGCCCGCAGCTCCTTGGTGACGTAGTTCACCAGCATGGCCAGCTGCTGCTGCTGCAGGGCCTCGCTGCCCATGACCAGCGCGGTCAGCTGCACGGCGTCCGTCCACTCCAGGTGCCTGATGATGGCTGCGGCTTCGTTAAAGAGCCTCTGTTGCTCGGCAGGGGGCAGCTCCATTAGGATCTGAGGAACCGGCTTAAACTGTCCACTTGTCATCCAGGCACCTAACAGCCCCCCGACAGCCCCCCCTAGAAAACATGGAATCGTTCAATTAGTGGGTCTTATTCATAAGCGATGGCCTTACTTAAGTTCCCACTGAGTGCACACCACCATCACCATGAGCAGGCACATTCATGAGCGGGCTGCAGCGGGCTCAGCCGGTGCCACGCCTGCTCCGCCAGCCAGTGTGGAGGGCAAAGGTTTATGCAGTCTTCTGTCCATTTGGCTCAGATAATTGACACCCAACATGCATTCCCTGGGCTCCACATTTAAGGATGCAAAATGAAGCCTGCCTGCCCCATCTCCCACCTCAGTGCTGGGCCCACTTTCTTCTTCATGAGCTGACGGAGGTTTCTGGGCTTACTGTAAAAATCCCTCTCTAATCACAAAGGAGAAGGCTGAGAAACAAATGCATTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCGCTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTGTATTTTTGTAGAAACAGGGTTTCACCATGTTGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTACCTCGGCCCCGCAAAGTGCTGGGATTATAGGCATGAGCCACCACAACCAGCCACAAATGCATTTTCAAGAGAAACCATCTCAGGCTGGGTGCGGTGGCTCATGCCTGTAATATCAGCAATTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCGACACCAGCCTGGCCGACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGGGGCACATGCCTGTAATCCCAGATACTTGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAAGTAGAGGTTGCAGTGAGCCGAGATCATACCCTTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAGAAACCATCTCAGTGGTGAGACTGAATTTCCTCCACCAGGCAGCTGATATGCTCCTTGCCCCTGAACTTAGAAAATCTTCAGTGAGCCCATGTGGTTAAAGGACCTGGGGACAGATAAGGAGGCTCTTTCCTCTTGAAGCAGTGCTTTTCATAGATCCCCTCCAAGTTGTATGATCGATAAATAACAAACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCGAATCACGAGGTCAGGAGTTGGAGACTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATAGTGGTGGGTGCCTGTAATCCCAGCTACTGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAATATCAAATGTAAGGTAGCTTACTATTTCTACTTCTGCCACCCTAAAAGGGCAGAAACATTATTGTTAAATGTAAACTCATTGCCAAGGCTATGTCATGCTATTCTGGGACTTAAAGACCTTGTATCCACGGAAAGTTCTACCTGAAGAGGCCACGTGCAGAATATGGTGCAGAGAAGCGGAAGGTGCCCTAGGGAAGGGGTCCAAAGTCAAGTGCCTCCAAGAGCCAGGGAGGAACTAAGAAGAGTGAAGGGGCGGTTGGGCCTTACCCGGCCTCTCCCCTGCTGAGATTGGATGGGTGGCAGGCTCTGACTTCATCCCAGTCTATAGTCTGGGCCAACCAAG
Task1_train_26997
Gene SLC7A9 (solute carrier family 7 member 9) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Cystinuria
TGTGACGGCCCCAAGATCTTTATTATTTTTTTGTATCAGAAAGCGCCAATGCCCAGGCTTATGTATGTCCCAGCAGAAGCCACCGCTTGAACTAGAGGTGAACTTTGTCATCAAGCTGTCCTGTGAGCAGGTCTGGATCACACTCTGGCTCAGTTTTCTCATCTGTAAAATGAGACATCCCCTCATTGTGTGGCCTGGCCTTGTCTCAGGGAGCGCCCGCCGAGTGCTGCTGGGTTGGGCAGTTTTTCTGCCCAGTGGCTCTGATGGGGGCTCAGAGCCCTGGCCTCCCCTGGGAGGACACGCTGTGCAGCCAGGACAGCTGCCGGGAGTGTGCCCAGGTCACTGCTATGGCCTTCGCAGGGTGACTGGCAGGTATCAAATCAGCCCATGAAGGAAGATGGTGATTTTCCTTTTTTGTAGCTAAATTGGGCAGGCTCTTGGGAAGTAGAAAGTTCTGGTGTTTTTGCTGGTGAAGGTTTTGACTGTGGAGCTCTTCTAACACCCATATCAGTGTCTGTTTCTCTGCATGTGGCTGCTGCCCTGTTGGTGGAGCTCTGGGGGCAGAGACCAGGCCGCCGTCCAGTGGCGCCCCGTGCGCACCAGCTGCCTGCTGTTTACACCCAGGTGCGCCGAGTCTCTTTCATACAGCACAGCAAATGATAATAGCTAGTGACAATGTGTTTCCTGTGCACTCGTGAAAATGCAGGGAGGACAACTGCATGCTTAGATCTGTTTCTTTTTTCAGACATTCAAATGTTCTAATATCTGAAGCTAACATTTTGTAGGATATAGGATGCTGATTATGTGAACAATTAGTCATTGGTTTTCTGTACTGCTATGAATATGTCTGATTTCAAGTTTTGGTCAAATATCTAAAATGCAAGGTGAAAGTGCCTTTGTCTCTATGCTTCTAAAATCGCTCATGCTTAGTTGTGGTATGGATGTCTTCCGCAGTGTATCATCAATAAAATTTCACTGTTTTCACAGAAATGTTGCTTTTTACATTTTTTAAACAGTACTTTCCCTGAATGCCAAACACAGAATAAAACTTTACTCACCACACTTTCTGGTTTGACTAAAACGCCCGTGAAGGCTGCTAGGGAGCCAGCGATGCTGACTGGCAATGCAGGCGACCCTCGTGATGAGCACACCGGCTGTGGAGGGTTCTGGATGGAGGCTCAGCTCTTGCCATTCATCCTGGCAGATAGATAGATACATGGCACGCACATCACAGGTTCAGCACAGGGCGCCAGTACTTTACTTTTAGGGTAGGGGAGAGTGGGTGAGAAACATTTGTACTTTAATATTTTTGTATATTTATTTACTTTTTGAGTTGGGGTCTCTGTCATCCAGGCTGGAGTGCAGTGGCATGATGATGGCTCACTACACCCTGGACTCCAGGCTCAGGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGGCTACAGGTGTGCAACACGATGCCTGGCTAATTTTTTTATGTTTTTTATAGATTAGATACATGATTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGCGATCTATCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCGTGAGCCACCACACCTGGCCAGTAATTTACTGTTGTTTTAAAATCTATAGCAATCAATCAATCAATCAAAGCAAAAATGTCATCCATTTTATATAAGAGACCTTATTGACATTGAGTTTAAAGAACACCTTTCATTTAAGTGTGATGTGCCCCTTGTTAAATAGCTGCCACTGTAATGGAGGCTTTTATTCAGCCCTTCCCTAAGCATCTGCCTCTTGTTTGTTAGGTGACATCTCACCTGACAACAACTTTAGCAAACAAACACTTGCCACTTCCCCTTTCTAGAACCCCCACTCAGAGAACTAAGAATATCTAAAAATAACAATATTTTAAACATCTGAGTATATTTTATTCGTAAGAAAAAAAGGAAGAAATAACCACAAATATTGCTTAAGAAAATAAATTCAGCTGACTTGGCTACAAGAGACGGAGCTTGTTACTCAGGGTCTTCCTCCGGTGGGACCACTTCCATTAGCATCTGAAGGTGCATGGTAATCGGCTCTGAAATAAGAGTCAAAAATGAGTACAGTTAGTTAGACTGAAATTCGAAAGTTTCACTGGAGTTGTTGTGGGTGAGGGTGACATTGTTTTCAGTCTTTGGTGATGCGTCACCTAGACCCTGTGCTCAGGATGGCCAGCTTTCCTGCCTTCTGGTTGGATTTCACACTTTCCTGGCTTCTGTCTTCTCCCAGAATTGCAGGAATAGAAATAAAAACCTCCTAGGAGTGTCCGGAGGGACGACTGCACTTTCCAGTTCAGATGAGCTGAACAGGAGAAACAGGCAGGCTTTTAATCACATTCACTTAATAAATCTTAACTGGCTGTTACAGGCTGCCGCAGCCAGAGTTAAATTGCACACAGCCCAAGTCCTGTCCTCAAGGAGCTCCTGGAAGAGGATGCCCAGGAAGTCTTAAAGGCTTTTAGAAATGGGGTTTCCTAGGCAGGCGGATCACGAGGTCAGGAGATCGAGAATATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAGAAAGAAAGAAATAGGGTTTCCTGCAGTTGAATCTGTTGTAAAGGATAAAACATTGTGAATGTAATATAGACTTTTTGTTTTTGTGTTTTTTGAGATGGACTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGGGGGATCTTGGCTTACCGCAAGCTCCGCCTCCCGAGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCGTGTTAGCCACGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGTGCCCGGCCCGATATAGACTTTTTTAAAGGTGTAATTCCGTCTCTTTTGATGTACTTTGACACAAGTGCTTTCTTTTCAGAAGCAAAAGTGGCTACTAACATAGCTAAACTTTTAAACAACTGTCCTAAAACTGATGAGGGTCAGGACTGCTGAAAGAGTGAGCCCTGTGCCCTTGGCATTAAAAGGCTTGGGCCCCAGCCCAGTTCCCCAGGCCAAGGCCATGACTTTTTGTGTGTCTTTGCAATGCTGCTAGGCCTCTTAGATGATGTCTGCATATCAGACAAAGGAGAATGGTGTTTCAGGATGAGACGCATGATGGTGGGAATATGCCTAATGCTACTGAACTTTACACTGACAAGTGGCTGAGATAGAAACGTTTATGTTGTGTGTCTTTCGCAATTAAAAAGAAAATGGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCTACATTTCGGGAGACTGATGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCGACTCTACTAAAAATACAAAACAACAACAAGGAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAAAATCGCTTGAACGTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCAGTGCATTCCAGCCTGGACAACAAGAGCAAAACTCCATCTCAAAACAAAGAAAATGGGCCGGGCGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTAAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTAAAACCTCATCTGTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCACAAGAATCGCTTGAACCGGGAGGTGGAGGTTGCACAGTGAGCTGAGACCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAGAAAAACGGCCAGGTACGGTGGCTTAGGCCAGTAGTCCCAGCACTTTGGAGAGCCAAGGTGGAA
TGTGACGGCCCCAAGATCTTTATTATTTTTTTGTATCAGAAAGCGCCAATGCCCAGGCTTATGTATGTCCCAGCAGAAGCCACCGCTTGAACTAGAGGTGAACTTTGTCATCAAGCTGTCCTGTGAGCAGGTCTGGATCACACTCTGGCTCAGTTTTCTCATCTGTAAAATGAGACATCCCCTCATTGTGTGGCCTGGCCTTGTCTCAGGGAGCGCCCGCCGAGTGCTGCTGGGTTGGGCAGTTTTTCTGCCCAGTGGCTCTGATGGGGGCTCAGAGCCCTGGCCTCCCCTGGGAGGACACGCTGTGCAGCCAGGACAGCTGCCGGGAGTGTGCCCAGGTCACTGCTATGGCCTTCGCAGGGTGACTGGCAGGTATCAAATCAGCCCATGAAGGAAGATGGTGATTTTCCTTTTTTGTAGCTAAATTGGGCAGGCTCTTGGGAAGTAGAAAGTTCTGGTGTTTTTGCTGGTGAAGGTTTTGACTGTGGAGCTCTTCTAACACCCATATCAGTGTCTGTTTCTCTGCATGTGGCTGCTGCCCTGTTGGTGGAGCTCTGGGGGCAGAGACCAGGCCGCCGTCCAGTGGCGCCCCGTGCGCACCAGCTGCCTGCTGTTTACACCCAGGTGCGCCGAGTCTCTTTCATACAGCACAGCAAATGATAATAGCTAGTGACAATGTGTTTCCTGTGCACTCGTGAAAATGCAGGGAGGACAACTGCATGCTTAGATCTGTTTCTTTTTTCAGACATTCAAATGTTCTAATATCTGAAGCTAACATTTTGTAGGATATAGGATGCTGATTATGTGAACAATTAGTCATTGGTTTTCTGTACTGCTATGAATATGTCTGATTTCAAGTTTTGGTCAAATATCTAAAATGCAAGGTGAAAGTGCCTTTGTCTCTATGCTTCTAAAATCGCTCATGCTTAGTTGTGGTATGGATGTCTTCCGCAGTGTATCATCAATAAAATTTCACTGTTTTCACAGAAATGTTGCTTTTTACATTTTTTAAACAGTACTTTCCCTGAATGCCAAACACAGAATAAAACTTTACTCACCACACTTTCTGGTTTGACTAAAACGCCCGTGAAGGCTGCTAGGGAGCCAGCGATGCTGACTGGCAATGCAGGCGACCCTCGTGATGAGCACACCGGCTGTGGAGGGTTCTGGATGGAGGCTCAGCTCTTGCCATTCATCCTGGCAGATAGATAGATACATGGCACGCACATCACAGGTTCAGCACAGGGCGCCAGTACTTTACTTTTAGGGTAGGGGAGAGTGGGTGAGAAACATTTGTACTTTAATATTTTTGTATATTTATTTACTTTTTGAGTTGGGGTCTCTGTCATCCAGGCTGGAGTGCAGTGGCATGATGATGGCTCACTACACCCTGGACTCCAGGCTCAGGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGGCTACAGGTGTGCAACACGATGCCTGGCTAATTTTTTTATGTTTTTTATAGATTAGATACATGATTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGCGATCTATCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCGTGAGCCACCACACCTGGCCAGTAATTTACTGTTGTTTTAAAATCTATAGCAATCAATCAATCAATCAAAGCAAAAATGTCATCCATTTTATATAAGAGACCTTATTGACATTGAGTTTAAAGAACACCTTTCATTTAAGTGTGATGTGCCCCTTGTTAAATAGCTGCCACTGTAATGGAGGCTTTTATTCAGCCCTTCCCTAAGCATCTGCCTCTTGTTTGTTAGGTGACATCTCACCTGACAACAACTTTAGCAAACAAACACTTGCCACTTCCCCTTTCTAGAACCCCCACTCAGAGAACTAAGAATATCTAAAAATAACAATATTTTAAACATCTGAGTATATTTTATTCGTAAGAAAAAAAGGAAGAAATAACCACAAATATTGCTTAAGAAAATAAATTCAGCTGACTTGGCTACAAGAGACGGAGCTTGTTACTCAGGGTCTTCCTCCAGTGGGACCACTTCCATTAGCATCTGAAGGTGCATGGTAATCGGCTCTGAAATAAGAGTCAAAAATGAGTACAGTTAGTTAGACTGAAATTCGAAAGTTTCACTGGAGTTGTTGTGGGTGAGGGTGACATTGTTTTCAGTCTTTGGTGATGCGTCACCTAGACCCTGTGCTCAGGATGGCCAGCTTTCCTGCCTTCTGGTTGGATTTCACACTTTCCTGGCTTCTGTCTTCTCCCAGAATTGCAGGAATAGAAATAAAAACCTCCTAGGAGTGTCCGGAGGGACGACTGCACTTTCCAGTTCAGATGAGCTGAACAGGAGAAACAGGCAGGCTTTTAATCACATTCACTTAATAAATCTTAACTGGCTGTTACAGGCTGCCGCAGCCAGAGTTAAATTGCACACAGCCCAAGTCCTGTCCTCAAGGAGCTCCTGGAAGAGGATGCCCAGGAAGTCTTAAAGGCTTTTAGAAATGGGGTTTCCTAGGCAGGCGGATCACGAGGTCAGGAGATCGAGAATATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAGAAAGAAAGAAATAGGGTTTCCTGCAGTTGAATCTGTTGTAAAGGATAAAACATTGTGAATGTAATATAGACTTTTTGTTTTTGTGTTTTTTGAGATGGACTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGGGGGATCTTGGCTTACCGCAAGCTCCGCCTCCCGAGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCGTGTTAGCCACGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGTGCCCGGCCCGATATAGACTTTTTTAAAGGTGTAATTCCGTCTCTTTTGATGTACTTTGACACAAGTGCTTTCTTTTCAGAAGCAAAAGTGGCTACTAACATAGCTAAACTTTTAAACAACTGTCCTAAAACTGATGAGGGTCAGGACTGCTGAAAGAGTGAGCCCTGTGCCCTTGGCATTAAAAGGCTTGGGCCCCAGCCCAGTTCCCCAGGCCAAGGCCATGACTTTTTGTGTGTCTTTGCAATGCTGCTAGGCCTCTTAGATGATGTCTGCATATCAGACAAAGGAGAATGGTGTTTCAGGATGAGACGCATGATGGTGGGAATATGCCTAATGCTACTGAACTTTACACTGACAAGTGGCTGAGATAGAAACGTTTATGTTGTGTGTCTTTCGCAATTAAAAAGAAAATGGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCTACATTTCGGGAGACTGATGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCGACTCTACTAAAAATACAAAACAACAACAAGGAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAAAATCGCTTGAACGTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCAGTGCATTCCAGCCTGGACAACAAGAGCAAAACTCCATCTCAAAACAAAGAAAATGGGCCGGGCGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTAAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTAAAACCTCATCTGTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCACAAGAATCGCTTGAACCGGGAGGTGGAGGTTGCACAGTGAGCTGAGACCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAGAAAAACGGCCAGGTACGGTGGCTTAGGCCAGTAGTCCCAGCACTTTGGAGAGCCAAGGTGGAA
Task1_train_26998
Consider a variant on Chromosome 19 in gene SLC7A9 (solute carrier family 7 member 9). Determine its clinical classification and disease relevance.
Pathogenic; not provided
TCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAGTGAATTTTTAATGTTCTCAGCATAAAGAAGTATGTGAGGTGATACATATGCCATTCCACAATGTTTACATGTATTGAAACATCACACTGTACCACATACATATATGCAATTATTGTTGTTATTTTTTAGAGGCAGGGTCTTACTCTGTTACCCAGGCAGGAGTGCAGTGGTGTGATCGTGGCCCACTGCAGCCTGGAACTTCTGGGCTTCTGGAACTACAGGCATGGGCCTCTACACCCAGCTAATTTTTAAATTTCTTTTTGTAGAGACGGAGTCTCACCATGTGGCCCAGACTAGTCTCGAACTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCCATATAAGCAATTATTATTTGTCAATTTAAAATAAGGCGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCTTGGCCAAGATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCAGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAAATTGCTTGAACTAGGGAGGCGGAGACTGCAGTGAGGCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAATAATATAAGGCTGGGCACGATAGCTCATGCCTGTAATTCCAGGGCTTTGGGAAGTGGAGGCAGGAGGATCACTTGAGCCAGGAGTTCGAAATGGGCCTGGGCAACATGGTGAAACCCCATCTTGACTAAGAATACAAAAGTTAGCTGGGTGTGATGGCACGTGCCTGTGGTCCCAGCTATTCCAGAGGCTGAGGAGGGAGGATTGCTTGAGCCCAGGAGGTAGAGGCTACAGTGAGCCAAGATCATGCCAGTGTGCTCCAGCCTGGGCGACAGAGTGAGACCTTGCCTCAAAATTAATTAGTTAATTAAAATTTAAATTTAAAATTTATAAAGAAATACAAAGGATCTAGCCAAAACGCTTTTGACAAAGAATGAAGTTGGAGGCCTAGCACTACATGTATTTCGGTTTGGCTTTAGAAGAATGATTTTATGGTATTTCATTTTTTAACATACACAGACTTTGTCAATTTCACTCTGAAATATATCCATTCAGAACACTGGACAACTAAGCCAAGACACGTGTTCGAGGATGTTCACTGCGGCAACGTTCATGGAAACCACCCACACCCAGGTGTGAGTGAAGGATTTGTTAAGTTATGCTACATCTGAAAGTGTGATACAACACAGCTGGTGGCAGTCTCTAGACCAGATGGGTCTAAAGGATTGGCAAACCACAGCTGTTTGGGCAAATAAAGTTTTATTGGAACATGACCATGGCTGTTCACTCTTGGGTACCAAGGCAGAGTTGAGAATCTGTGACAGAGGTTTATGCAGCCTGCGAGCCTGGAATATTTACCATCTGGCCCTTTAAGGGAAAGTTAGCCAATTCTGGGTTATTTATTAATTTGCTAATTAGCAAATTAGTTTGTATATATTAACATGGGGAAGATGTTCAGGAAATATCACTATGTGAAAAATATCACTAGGTGAAAAGGTAAAAAGTGCCACGTGGAAAACCAGTGCCTCATTCACGCGGTGTCGCTTCCCTTCGCCTCAGCATGGGCAGCTTCCCCCCCATGTTGGGAACTAGGGCCCCCTGGAGTGGAAAGGCTGAGATTCCAGGCAGCCTTGATCAATTCCCGTGTGCAGGCCCATCCATGCCTTCCTGGCCAGTTTGCGGTGTGGGTTCAAGCTACATCCCTTCTCTGGATTTGGGTCTCCTACTTGTACTGGCGTGGGTTTCGCCTGGCAGAACCCTGAGGATTTTAGCTGTGTGTCTTCCTCGGGGGTGATATTGCTTTCGCCGCCCCTGTCCACCCTGGGAGTGACGGTGGGGGTCCCCTACCTGCCCGCTGTGAAGCAGGTCCCGTTAGCAGCACCGATGGTTGAAAATGCCACAAAAAGTGGAACGATCCAAGAAGCAGGATAGAGAACACGGTCACCAAATGTCTGGTGAGAGAAGCGAGATGAGTCCTGAGGGTCTTTCTTGGCCTCCAAGAGCGGCCGGCCCCCAAAAGCTATTCTGGCCTCCCAGGGGACCCAGGGACCCACCTCGCCTCGGGGCACAGCCTCTGACTCCTCCACTGCAGAGGAGAGAGGAGAACGCCACTCGCCTATCTCCAGATATTGTGATGGCAAGAGAAGTCTCTTATCTACTACTCCCTGGCATAAATCTTTATTTATTTATTTATTTATTTATTTATTTATTTCTGAGATGGAGCTTTGCTCTTATTGCCCAGGCTGGAGTGCAATGTTGCTGTCTCGGCTCACTGCAACCTCTGCCTCCCAGGGTCAAGCGATGCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACATTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCACGTTGGCCAGGCTGGTCTCAATCTCCTGACCTTGCGATCCACCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCAAATCTTTATTTTTTAATTTGATTTTTTTTGGAGACAGGATCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTGGCGTGATCACGTCTCACTGTAGCCTCAATCTCCTGGGCTCAAGTGATCCTTGCCTCAGTCTTCTAAGTAGCTGAGACCACAGGCACTCGCCACCACACCCAGCTGCGTAATTCTTGGTCATTTCAATATCCTGACACCTTCACCTCTCACTTCCCTGAACCCCCACTCCAACCGGAATGGCTGAATTCTCCCTCCCACCTCAGCAGCCCCCAGTCTTGTGGTCAGTGACCTCAACACTTATCCAAACTGCGTCTCCTCCACCTTCCAAATCCCCAACACGTGGTTGTCTGTTTGCAACTGCAGGAGGCCCCCAGCCACCTCTTCACTGACCCCAATGCCTCTCACCTCTCACCTTCTATGATTCATTATTATTTAGGGTGGTGCAAAAGTAATTGCCAGTTTTGCCAAAAATATATATATTTTTTAATATATAATGACCTAATATAATGACCTCCCCCGACTCCCTGGCACTTTCTGCCTCTGCTTCATGCTTGCCTGCCGAACCCTCACCCTGGCTAGCCCGGCCCTGCCTCCAGCTCCATGCCGTGCGTGCCCAGTCCATGTCCCCGTCCGTGAATATCGCCCTCCTTCCCTGGGAGGGAGCTCACCTCCAGTGCTGACACCTGCCTTACCCCTTCCCACAAGCCACAGCCCCCGCCAGCAGCGATGCCCGGGCACTCACCACAGCCACCGCCTGGGACTGCAGGAGTTCGGTGGCAGTCATCACGGTGAAGTAGGACACGTTCATGAGGATGTAGCACGCCGTCACCAGGGGGATCCCGATGATAATGGCCAAAGGCAGGTTTCTGGGAGGGGCAATGACACGGAGACCCACGTTCAGACCACAGCCTCCCGCGGAAGATGGACGCCCTCCCTGAGGCCCTCCCAGGGAGAAGATTCGCAGGTAGCAGAGGCCCAGCAGGAACATAAGACATTTTCAAATGAGAATGCTGCCTCTCTCAGACTCCAGAGCAGTTCACATGGAACTGTTTATAAAGCAAAATAAGCCAGAGATAAAGGAAGACCAAGCTCTTCCCTCCCTTAGGAGCCACTGCTCTGTCCCAAACCAAACCAAACTCTAAGCGTGCATAGTGAGCTCATAAGAAACCATTCGCTGGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGAATCTCTTGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAATCTCATCTCTACTAAAAAAATACAAAAATGAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGAAATAATTCACTGTCGGGAAGGG
TCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAGTGAATTTTTAATGTTCTCAGCATAAAGAAGTATGTGAGGTGATACATATGCCATTCCACAATGTTTACATGTATTGAAACATCACACTGTACCACATACATATATGCAATTATTGTTGTTATTTTTTAGAGGCAGGGTCTTACTCTGTTACCCAGGCAGGAGTGCAGTGGTGTGATCGTGGCCCACTGCAGCCTGGAACTTCTGGGCTTCTGGAACTACAGGCATGGGCCTCTACACCCAGCTAATTTTTAAATTTCTTTTTGTAGAGACGGAGTCTCACCATGTGGCCCAGACTAGTCTCGAACTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCCATATAAGCAATTATTATTTGTCAATTTAAAATAAGGCGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCTTGGCCAAGATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCAGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAAATTGCTTGAACTAGGGAGGCGGAGACTGCAGTGAGGCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAATAATATAAGGCTGGGCACGATAGCTCATGCCTGTAATTCCAGGGCTTTGGGAAGTGGAGGCAGGAGGATCACTTGAGCCAGGAGTTCGAAATGGGCCTGGGCAACATGGTGAAACCCCATCTTGACTAAGAATACAAAAGTTAGCTGGGTGTGATGGCACGTGCCTGTGGTCCCAGCTATTCCAGAGGCTGAGGAGGGAGGATTGCTTGAGCCCAGGAGGTAGAGGCTACAGTGAGCCAAGATCATGCCAGTGTGCTCCAGCCTGGGCGACAGAGTGAGACCTTGCCTCAAAATTAATTAGTTAATTAAAATTTAAATTTAAAATTTATAAAGAAATACAAAGGATCTAGCCAAAACGCTTTTGACAAAGAATGAAGTTGGAGGCCTAGCACTACATGTATTTCGGTTTGGCTTTAGAAGAATGATTTTATGGTATTTCATTTTTTAACATACACAGACTTTGTCAATTTCACTCTGAAATATATCCATTCAGAACACTGGACAACTAAGCCAAGACACGTGTTCGAGGATGTTCACTGCGGCAACGTTCATGGAAACCACCCACACCCAGGTGTGAGTGAAGGATTTGTTAAGTTATGCTACATCTGAAAGTGTGATACAACACAGCTGGTGGCAGTCTCTAGACCAGATGGGTCTAAAGGATTGGCAAACCACAGCTGTTTGGGCAAATAAAGTTTTATTGGAACATGACCATGGCTGTTCACTCTTGGGTACCAAGGCAGAGTTGAGAATCTGTGACAGAGGTTTATGCAGCCTGCGAGCCTGGAATATTTACCATCTGGCCCTTTAAGGGAAAGTTAGCCAATTCTGGGTTATTTATTAATTTGCTAATTAGCAAATTAGTTTGTATATATTAACATGGGGAAGATGTTCAGGAAATATCACTATGTGAAAAATATCACTAGGTGAAAAGGTAAAAAGTGCCACGTGGAAAACCAGTGCCTCATTCACGCGGTGTCGCTTCCCTTCGCCTCAGCATGGGCAGCTTCCCCCCCATGTTGGGAACTAGGGCCCCCTGGAGTGGAAAGGCTGAGATTCCAGGCAGCCTTGATCAATTCCCGTGTGCAGGCCCATCCATGCCTTCCTGGCCAGTTTGCGGTGTGGGTTCAAGCTACATCCCTTCTCTGGATTTGGGTCTCCTACTTGTACTGGCGTGGGTTTCGCCTGGCAGAACCCTGAGGATTTTAGCTGTGTGTCTTCCTCGGGGGTGATATTGCTTTCGCCGCCCCTGTCCACCCTGGGAGTGACGGTGGGGGTCCCCTACCTGCCCGCTGTGAAGCAGGTCCTGTTAGCAGCACCGATGGTTGAAAATGCCACAAAAAGTGGAACGATCCAAGAAGCAGGATAGAGAACACGGTCACCAAATGTCTGGTGAGAGAAGCGAGATGAGTCCTGAGGGTCTTTCTTGGCCTCCAAGAGCGGCCGGCCCCCAAAAGCTATTCTGGCCTCCCAGGGGACCCAGGGACCCACCTCGCCTCGGGGCACAGCCTCTGACTCCTCCACTGCAGAGGAGAGAGGAGAACGCCACTCGCCTATCTCCAGATATTGTGATGGCAAGAGAAGTCTCTTATCTACTACTCCCTGGCATAAATCTTTATTTATTTATTTATTTATTTATTTATTTATTTCTGAGATGGAGCTTTGCTCTTATTGCCCAGGCTGGAGTGCAATGTTGCTGTCTCGGCTCACTGCAACCTCTGCCTCCCAGGGTCAAGCGATGCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACATTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCACGTTGGCCAGGCTGGTCTCAATCTCCTGACCTTGCGATCCACCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCAAATCTTTATTTTTTAATTTGATTTTTTTTGGAGACAGGATCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTGGCGTGATCACGTCTCACTGTAGCCTCAATCTCCTGGGCTCAAGTGATCCTTGCCTCAGTCTTCTAAGTAGCTGAGACCACAGGCACTCGCCACCACACCCAGCTGCGTAATTCTTGGTCATTTCAATATCCTGACACCTTCACCTCTCACTTCCCTGAACCCCCACTCCAACCGGAATGGCTGAATTCTCCCTCCCACCTCAGCAGCCCCCAGTCTTGTGGTCAGTGACCTCAACACTTATCCAAACTGCGTCTCCTCCACCTTCCAAATCCCCAACACGTGGTTGTCTGTTTGCAACTGCAGGAGGCCCCCAGCCACCTCTTCACTGACCCCAATGCCTCTCACCTCTCACCTTCTATGATTCATTATTATTTAGGGTGGTGCAAAAGTAATTGCCAGTTTTGCCAAAAATATATATATTTTTTAATATATAATGACCTAATATAATGACCTCCCCCGACTCCCTGGCACTTTCTGCCTCTGCTTCATGCTTGCCTGCCGAACCCTCACCCTGGCTAGCCCGGCCCTGCCTCCAGCTCCATGCCGTGCGTGCCCAGTCCATGTCCCCGTCCGTGAATATCGCCCTCCTTCCCTGGGAGGGAGCTCACCTCCAGTGCTGACACCTGCCTTACCCCTTCCCACAAGCCACAGCCCCCGCCAGCAGCGATGCCCGGGCACTCACCACAGCCACCGCCTGGGACTGCAGGAGTTCGGTGGCAGTCATCACGGTGAAGTAGGACACGTTCATGAGGATGTAGCACGCCGTCACCAGGGGGATCCCGATGATAATGGCCAAAGGCAGGTTTCTGGGAGGGGCAATGACACGGAGACCCACGTTCAGACCACAGCCTCCCGCGGAAGATGGACGCCCTCCCTGAGGCCCTCCCAGGGAGAAGATTCGCAGGTAGCAGAGGCCCAGCAGGAACATAAGACATTTTCAAATGAGAATGCTGCCTCTCTCAGACTCCAGAGCAGTTCACATGGAACTGTTTATAAAGCAAAATAAGCCAGAGATAAAGGAAGACCAAGCTCTTCCCTCCCTTAGGAGCCACTGCTCTGTCCCAAACCAAACCAAACTCTAAGCGTGCATAGTGAGCTCATAAGAAACCATTCGCTGGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGAATCTCTTGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAATCTCATCTCTACTAAAAAAATACAAAAATGAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGAAATAATTCACTGTCGGGAAGGG
Task1_train_26999
This gene mutation involves SLC7A9 (solute carrier family 7 member 9) on Chromosome 19. Is it associated with any clinical condition, or is it benign?
Pathogenic; not provided
TCTAAAGGATTGGCAAACCACAGCTGTTTGGGCAAATAAAGTTTTATTGGAACATGACCATGGCTGTTCACTCTTGGGTACCAAGGCAGAGTTGAGAATCTGTGACAGAGGTTTATGCAGCCTGCGAGCCTGGAATATTTACCATCTGGCCCTTTAAGGGAAAGTTAGCCAATTCTGGGTTATTTATTAATTTGCTAATTAGCAAATTAGTTTGTATATATTAACATGGGGAAGATGTTCAGGAAATATCACTATGTGAAAAATATCACTAGGTGAAAAGGTAAAAAGTGCCACGTGGAAAACCAGTGCCTCATTCACGCGGTGTCGCTTCCCTTCGCCTCAGCATGGGCAGCTTCCCCCCCATGTTGGGAACTAGGGCCCCCTGGAGTGGAAAGGCTGAGATTCCAGGCAGCCTTGATCAATTCCCGTGTGCAGGCCCATCCATGCCTTCCTGGCCAGTTTGCGGTGTGGGTTCAAGCTACATCCCTTCTCTGGATTTGGGTCTCCTACTTGTACTGGCGTGGGTTTCGCCTGGCAGAACCCTGAGGATTTTAGCTGTGTGTCTTCCTCGGGGGTGATATTGCTTTCGCCGCCCCTGTCCACCCTGGGAGTGACGGTGGGGGTCCCCTACCTGCCCGCTGTGAAGCAGGTCCCGTTAGCAGCACCGATGGTTGAAAATGCCACAAAAAGTGGAACGATCCAAGAAGCAGGATAGAGAACACGGTCACCAAATGTCTGGTGAGAGAAGCGAGATGAGTCCTGAGGGTCTTTCTTGGCCTCCAAGAGCGGCCGGCCCCCAAAAGCTATTCTGGCCTCCCAGGGGACCCAGGGACCCACCTCGCCTCGGGGCACAGCCTCTGACTCCTCCACTGCAGAGGAGAGAGGAGAACGCCACTCGCCTATCTCCAGATATTGTGATGGCAAGAGAAGTCTCTTATCTACTACTCCCTGGCATAAATCTTTATTTATTTATTTATTTATTTATTTATTTATTTCTGAGATGGAGCTTTGCTCTTATTGCCCAGGCTGGAGTGCAATGTTGCTGTCTCGGCTCACTGCAACCTCTGCCTCCCAGGGTCAAGCGATGCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACATTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCACGTTGGCCAGGCTGGTCTCAATCTCCTGACCTTGCGATCCACCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCAAATCTTTATTTTTTAATTTGATTTTTTTTGGAGACAGGATCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTGGCGTGATCACGTCTCACTGTAGCCTCAATCTCCTGGGCTCAAGTGATCCTTGCCTCAGTCTTCTAAGTAGCTGAGACCACAGGCACTCGCCACCACACCCAGCTGCGTAATTCTTGGTCATTTCAATATCCTGACACCTTCACCTCTCACTTCCCTGAACCCCCACTCCAACCGGAATGGCTGAATTCTCCCTCCCACCTCAGCAGCCCCCAGTCTTGTGGTCAGTGACCTCAACACTTATCCAAACTGCGTCTCCTCCACCTTCCAAATCCCCAACACGTGGTTGTCTGTTTGCAACTGCAGGAGGCCCCCAGCCACCTCTTCACTGACCCCAATGCCTCTCACCTCTCACCTTCTATGATTCATTATTATTTAGGGTGGTGCAAAAGTAATTGCCAGTTTTGCCAAAAATATATATATTTTTTAATATATAATGACCTAATATAATGACCTCCCCCGACTCCCTGGCACTTTCTGCCTCTGCTTCATGCTTGCCTGCCGAACCCTCACCCTGGCTAGCCCGGCCCTGCCTCCAGCTCCATGCCGTGCGTGCCCAGTCCATGTCCCCGTCCGTGAATATCGCCCTCCTTCCCTGGGAGGGAGCTCACCTCCAGTGCTGACACCTGCCTTACCCCTTCCCACAAGCCACAGCCCCCGCCAGCAGCGATGCCCGGGCACTCACCACAGCCACCGCCTGGGACTGCAGGAGTTCGGTGGCAGTCATCACGGTGAAGTAGGACACGTTCATGAGGATGTAGCACGCCGTCACCAGGGGGATCCCGATGATAATGGCCAAAGGCAGGTTTCTGGGAGGGGCAATGACACGGAGACCCACGTTCAGACCACAGCCTCCCGCGGAAGATGGACGCCCTCCCTGAGGCCCTCCCAGGGAGAAGATTCGCAGGTAGCAGAGGCCCAGCAGGAACATAAGACATTTTCAAATGAGAATGCTGCCTCTCTCAGACTCCAGAGCAGTTCACATGGAACTGTTTATAAAGCAAAATAAGCCAGAGATAAAGGAAGACCAAGCTCTTCCCTCCCTTAGGAGCCACTGCTCTGTCCCAAACCAAACCAAACTCTAAGCGTGCATAGTGAGCTCATAAGAAACCATTCGCTGGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGAATCTCTTGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAATCTCATCTCTACTAAAAAAATACAAAAATGAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGAAATAATTCACTGTCGGGAAGGGCATCATGGAATACCCAGGGAAATAGCTCCAGCCTTCACCAGGAGAAGAGAAATCAGGCTGCCCGGCTACTGTCCTCTGCACTGATTCAGCTGTTACCTGTAAGGGTTTCTAAGTTCTTCTGTGATGTAATTGAGTTGATTCCTGGAAAAAGGAAAGTAACAAGCGTCACACACCTTGACTTTCTTTTTCGATAATGAAACCCACAATAATAAATGTTGGCCTCATTTAAGATTCTCTACCAGAGAAAAAAATTCTCCTGCAGGAATTCCAGGTGAATTTTTTTCCAGGTGAATGGCCCTGCTAGTGGTGGGGCCTGGGGCCCTACCCAGACCTACACATCTGTCAGCTGGTTGAGCCTTTGCCCTCCTCGGGAATCACACGGATTTTCAAGAATAATCAGGAGTAGTGAGTCCCCAGGGTGCTTTGAAAAAATGGAATATTCTTTGTCTGAAAAGGGAATTAAATCTATAAATGCTTTGCAGGAGAGAAGGACCATCGTTGCAGATGGCCATGCTTCTTCCTTAAAGGACAAAAATGGGCCAGGCATAGTGGCGCACGTCTGTAATCCCAGCACTTTGAGAAGCCGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCCTGCATGGTGGCAGGTGCCTGTAATCCCAGCTAGTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGGGATTCAAGCAATTGCAGTGAGCCGAGATCTCACCACAGCACTCCAGCCTGGGTAATAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAAAAAGGACAAAAACAGAATCTCATCCACTAAACTCGATAAATATATAAAATTTATATGGTATTATTTATTTTTGTAGGGCAGTCCCCCAAACCATAATAGATTCAGAGAGGCTCCCAAACCTAATGATTTTCAAGGTTAAATAGAAGTGCTATTGAGTATTCTTTGTTTAATCAAGAGCTTGGGGCTGGGCGCAGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGAGAGAGAATTGCTTGAGTGTAGGAGTTTGAGAGCAGCTTGGGCAACACAGAGAGACTGTCTCTACAAAGCATAAAAATAAAAAATTATCAGGGCATGGCAGCTCCTATCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAAGCTGACTTGAGCCCAGGAGCTCAAGGCTGCAGTGAGCTATGATCACGCCATTGCACTCCAGCCTGGGTGACCAAGTGAGATCCTGTCTTAAAAAAACAAAACAAAACAAAACAGAAAACCTGAGCTTGGGCCCTGGCTGCCTCTGATTTGGCTGAGCCTGTGTTGGCCCAGTGAGGGTT
TCTAAAGGATTGGCAAACCACAGCTGTTTGGGCAAATAAAGTTTTATTGGAACATGACCATGGCTGTTCACTCTTGGGTACCAAGGCAGAGTTGAGAATCTGTGACAGAGGTTTATGCAGCCTGCGAGCCTGGAATATTTACCATCTGGCCCTTTAAGGGAAAGTTAGCCAATTCTGGGTTATTTATTAATTTGCTAATTAGCAAATTAGTTTGTATATATTAACATGGGGAAGATGTTCAGGAAATATCACTATGTGAAAAATATCACTAGGTGAAAAGGTAAAAAGTGCCACGTGGAAAACCAGTGCCTCATTCACGCGGTGTCGCTTCCCTTCGCCTCAGCATGGGCAGCTTCCCCCCCATGTTGGGAACTAGGGCCCCCTGGAGTGGAAAGGCTGAGATTCCAGGCAGCCTTGATCAATTCCCGTGTGCAGGCCCATCCATGCCTTCCTGGCCAGTTTGCGGTGTGGGTTCAAGCTACATCCCTTCTCTGGATTTGGGTCTCCTACTTGTACTGGCGTGGGTTTCGCCTGGCAGAACCCTGAGGATTTTAGCTGTGTGTCTTCCTCGGGGGTGATATTGCTTTCGCCGCCCCTGTCCACCCTGGGAGTGACGGTGGGGGTCCCCTACCTGCCCGCTGTGAAGCAGGTCCCGTTAGCAGCACCGATGGTTGAAAATGCCACAAAAAGTGGAACGATCCAAGAAGCAGGATAGAGAACACGGTCACCAAATGTCTGGTGAGAGAAGCGAGATGAGTCCTGAGGGTCTTTCTTGGCCTCCAAGAGCGGCCGGCCCCCAAAAGCTATTCTGGCCTCCCAGGGGACCCAGGGACCCACCTCGCCTCGGGGCACAGCCTCTGACTCCTCCACTGCAGAGGAGAGAGGAGAACGCCACTCGCCTATCTCCAGATATTGTGATGGCAAGAGAAGTCTCTTATCTACTACTCCCTGGCATAAATCTTTATTTATTTATTTATTTATTTATTTATTTATTTCTGAGATGGAGCTTTGCTCTTATTGCCCAGGCTGGAGTGCAATGTTGCTGTCTCGGCTCACTGCAACCTCTGCCTCCCAGGGTCAAGCGATGCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACATTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCACGTTGGCCAGGCTGGTCTCAATCTCCTGACCTTGCGATCCACCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCAAATCTTTATTTTTTAATTTGATTTTTTTTGGAGACAGGATCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTGGCGTGATCACGTCTCACTGTAGCCTCAATCTCCTGGGCTCAAGTGATCCTTGCCTCAGTCTTCTAAGTAGCTGAGACCACAGGCACTCGCCACCACACCCAGCTGCGTAATTCTTGGTCATTTCAATATCCTGACACCTTCACCTCTCACTTCCCTGAACCCCCACTCCAACCGGAATGGCTGAATTCTCCCTCCCACCTCAGCAGCCCCCAGTCTTGTGGTCAGTGACCTCAACACTTATCCAAACTGCGTCTCCTCCACCTTCCAAATCCCCAACACGTGGTTGTCTGTTTGCAACTGCAGGAGGCCCCCAGCCACCTCTTCACTGACCCCAATGCCTCTCACCTCTCACCTTCTATGATTCATTATTATTTAGGGTGGTGCAAAAGTAATTGCCAGTTTTGCCAAAAATATATATATTTTTTAATATATAATGACCTAATATAATGACCTCCCCCGACTCCCTGGCACTTTCTGCCTCTGCTTCATGCTTGCCTGCCGAACCCTCACCCTGGCTAGCCCGGCCCTGCCTCCAGCTCCATGCCGTGCGTGCCCAGTCCATGTCCCCGTCCGTGAATATCGCCCTCCTTCCCTGGGAGGGAGCTCACCTCCAGTGCTGACACCTGCCTTACCCCTTCCCACAAGCCACAGCCCCCGCCAGCAGCGATGCCCGGGCACTCACCACAGCCACCGCCTGGAACTGCAGGAGTTCGGTGGCAGTCATCACGGTGAAGTAGGACACGTTCATGAGGATGTAGCACGCCGTCACCAGGGGGATCCCGATGATAATGGCCAAAGGCAGGTTTCTGGGAGGGGCAATGACACGGAGACCCACGTTCAGACCACAGCCTCCCGCGGAAGATGGACGCCCTCCCTGAGGCCCTCCCAGGGAGAAGATTCGCAGGTAGCAGAGGCCCAGCAGGAACATAAGACATTTTCAAATGAGAATGCTGCCTCTCTCAGACTCCAGAGCAGTTCACATGGAACTGTTTATAAAGCAAAATAAGCCAGAGATAAAGGAAGACCAAGCTCTTCCCTCCCTTAGGAGCCACTGCTCTGTCCCAAACCAAACCAAACTCTAAGCGTGCATAGTGAGCTCATAAGAAACCATTCGCTGGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGAATCTCTTGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAATCTCATCTCTACTAAAAAAATACAAAAATGAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGAAATAATTCACTGTCGGGAAGGGCATCATGGAATACCCAGGGAAATAGCTCCAGCCTTCACCAGGAGAAGAGAAATCAGGCTGCCCGGCTACTGTCCTCTGCACTGATTCAGCTGTTACCTGTAAGGGTTTCTAAGTTCTTCTGTGATGTAATTGAGTTGATTCCTGGAAAAAGGAAAGTAACAAGCGTCACACACCTTGACTTTCTTTTTCGATAATGAAACCCACAATAATAAATGTTGGCCTCATTTAAGATTCTCTACCAGAGAAAAAAATTCTCCTGCAGGAATTCCAGGTGAATTTTTTTCCAGGTGAATGGCCCTGCTAGTGGTGGGGCCTGGGGCCCTACCCAGACCTACACATCTGTCAGCTGGTTGAGCCTTTGCCCTCCTCGGGAATCACACGGATTTTCAAGAATAATCAGGAGTAGTGAGTCCCCAGGGTGCTTTGAAAAAATGGAATATTCTTTGTCTGAAAAGGGAATTAAATCTATAAATGCTTTGCAGGAGAGAAGGACCATCGTTGCAGATGGCCATGCTTCTTCCTTAAAGGACAAAAATGGGCCAGGCATAGTGGCGCACGTCTGTAATCCCAGCACTTTGAGAAGCCGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCCTGCATGGTGGCAGGTGCCTGTAATCCCAGCTAGTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGGGATTCAAGCAATTGCAGTGAGCCGAGATCTCACCACAGCACTCCAGCCTGGGTAATAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAAAAAGGACAAAAACAGAATCTCATCCACTAAACTCGATAAATATATAAAATTTATATGGTATTATTTATTTTTGTAGGGCAGTCCCCCAAACCATAATAGATTCAGAGAGGCTCCCAAACCTAATGATTTTCAAGGTTAAATAGAAGTGCTATTGAGTATTCTTTGTTTAATCAAGAGCTTGGGGCTGGGCGCAGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGAGAGAGAATTGCTTGAGTGTAGGAGTTTGAGAGCAGCTTGGGCAACACAGAGAGACTGTCTCTACAAAGCATAAAAATAAAAAATTATCAGGGCATGGCAGCTCCTATCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAAGCTGACTTGAGCCCAGGAGCTCAAGGCTGCAGTGAGCTATGATCACGCCATTGCACTCCAGCCTGGGTGACCAAGTGAGATCCTGTCTTAAAAAAACAAAACAAAACAAAACAGAAAACCTGAGCTTGGGCCCTGGCTGCCTCTGATTTGGCTGAGCCTGTGTTGGCCCAGTGAGGGTT