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_3100
This alteration occurs within gene PXDN (peroxidasin) located on Chromosome 2. Is it associated with a disease or is it a benign variant?
Pathogenic; Anterior segment dysgenesis 7
CTTTGCCATTTTTTCCACCCCACAGGGTCCGAGGTCTCCTAATCTACCTGGCCAGCTTCCCTTGTCTCAGGGGTGACAGCGTCCCATTTTGCCTTTGTGGCAGAACAAGGAGAACCGCACCCACAGGTGATCAAGGCTGTGGCTCAGAAGCGGCGCCATCTGTGGCGGTCATGGGCAGGTGGCCCCACAGGCCTGGGTCTGGGCAACACAGTGAGTATGGAAGATGCTACAGGCCAAGCCTTAGGGGCTGGTGGCCCCAAGGGCCCGGATCTGCAGACACCAAGCTCTGCCTCTCTCTCTGCCCCTGATACAACAGCAGGAACCCGAAGCTGCCCAACAGCCACAGTGTCAGTTTTGGTGTTTTCTGGTGCGAACAGTGTATTTTTCCCTGCAGTCAACCCCTCTGCCAGAAAAGTATAGCTCATCTCTAAGCTGAAAATGTGCCACAGCTCAGCAAAGCTCCTCTCTTGGAACAAAACAGGCCGGTGGAAGGGCCCTCCACCGTCCATCCACCCCTGGCTCTGCCCCCTCCCCACAACCACGCAGCCACGGGAGGCTGCAGGTTCCCATCTTGACCTTCATGGACTTGACCTTCATCTCACCTCTGCACGACACGAACAAAACTCACACACAGAGACAAATAACACACACACCACAGTTCAGGTGTTCCAGGTGCCTAGGTACACGAGCCATCCCACACAGCCTCTTCAGCTCACCTTTTCAGTTTCTCCCGGATCTCAGGGTTTTTAATCTCATTTTTCAGGTCCTCGAACGTGTGTGCCGCCGATAGATTGCAGTAGACCCTGTAGTCGTGGTAGGGTGGGATCCCGTGGTCCCGGCCCCGCTGGATGTTGATGGCCGCCAGGTCCAGAGCCACCGTGTGTGCCATGGAGAACAGCCGCTCCGTGAGCTCCGTGTTCAGCAGCTGCGAGGGCACACGCATTTTCCCCGCCACCCCGAACAGCCCCCTGAGAAGCGGATCGATGCCGCCCTCATTCACAATCCGGAAGGGAGAGAAGAAAGCTTTGTGAAGGGGGAGGTGATCTTGTGCAATGGGCTGGAAGTTCTCGTCCAGCCGGTAAAGCAGTGGGTTGACAAGCGTGTGGCCAAACCTGAAGGCCGCGGTGGCGAAGGCGTTGAAGATGCCAGCATTGATGCCGGGGTCGTAGCCGTGGTACTCTCCCAGCGTCCTCATGCCCACCTCCCCCAGGATCTTCGGGAGCCAGTGCTGGTAGGTGATGTGCTGGATCTCCGCACCCACGATCTTCCTGGTCTCATAGTAGATGGTGTCGCCGTCCCAGTGCGGGTTCAGCTTGAGCAGCTCCGTGGCAATGCGGTTGTGCTCGCGGAACCACAGCGTGTGCATGCTGGTCAGGCCCAGCTGCTCGTTGGCGCGGTGGTCCCCGGCCAGGAAGCAGGGGATGGGGCTCTCGTTCTCGTCCCGCATGCACTCCGTGGGCGGCCCGGTGGCGAAGGGGAGCAGCGGCTTCCCGGACCGCTGCACGATGCCCTGCCGCAGCAGGCCGCGGTGGCTGGCCAGGTCGCGGATGCTGCGGGCCTCATGCTCCGTGCTCCCGTACACGTTGGATGCGTCTATGTAGGAGGTGAGCTGGTTGATCTGCTCCCGCGGGTACACGGAGTTCATGAGCAGCGAAGTCATGCCGCTGCCGCACACAGGGCTGGAGCGCACGAAGAACATGCAGCGGGCCCCGCTCCTGGCCCGGGAGTCATTGGGGGGGATCATGACAGAGAAGCAGGGGGGGTCGTTGCTGCACACGTTGCTGCAGTGCTGTCCGTCGGAGAAGCGTGCCTGGCTCAGGGCCACCACCGTGGAGTCGAGGTCGTGGTCCAGGAACTGGCCCCACTGCATCAGCATGTGGGTGAACTGCTCGTCGGGTGTGACGGTCTCCGTCCCGATCAGGGTGGTGGACACCAGGCGCGGCATGGGAAGGGCGTGCCCGTTGTACAGTCGGTGGGGGTTGATGCCCCGAGGGGTGTTGAAGCCATTCTCGTACACGGATTTCAGCAGGCGCTCGAAGGCGGTCAGCGAGGCGCCCCACATGGGGTGCTGCAGGTTGTTACAGGTGCCGTCGTGCGTCCGGTACTTCTGGTGGAAGCACATGTCCGAGCAGTTGTTCACGCGCCGGTGGGCGGTACAGCCCGACAGGTTTGCGATGAGGTTCAGGTACTGTGGAGACACCAGGTCGTTGTAGTGGTAACCTGGGACGTGGAGAAAAGCAAGACGCACTCAATTCCCCTGGAGGATGTGTGAGGGCCCGGTACCCCTTGGCACCTCTGCCGCTGACATGGGGCTATCTACCCCCAGCTCATGAAACCTGTTGTGCGCCATGCAACAAGCGCTTCCTGCTGGAAACCTGCTCACCTCCTGTTTGGTAAAACTGCTCCTCCCCTCCTCCAGCCCCAAACACAGGTATTCTCTCCACAGCCCCAGTTTCTGGGCCCTGTCTCCCCTCCCCACTTAGCAGTCTCATGGTTTCAACCAGCAGCTCTCCTCTGGGAGACCCCTAACCGATGGAGCCCGACCCACGTTGACCAGTCCAGGCTGACACTGTTCCAACCTCACTTTAAACGCCCCGTGTAAGAGACAGTCACCACACCTCCACACGAGTGCACACCATCGGTCTCCACAGGCTGCCGAGCAGGGCATTTCCTGACACCTGTCACTGCACATCTCGGTCCACTGAGGCTTCATGCTGTTCCCTCAACGTCCAAAAGAGTGCCACTTCCTTTCACGCTACCTCAAAATGTTCCTAGCCGCCGCGCCCTCCTCTCCATTTCTCTGGCAGAATCCTGGGACTGATTTCCATGGCACTGGCCTTCAATTCCAGAAGGGCCTCCTGCCTGGTGGAGGTCATCCACACGCCCTCCCCACAGCAAGCGCACGCTCCCATGAGCCTGGCACAGGCTCCGACTAGGTCACCTTCTTGCTCAGAGACCTTCTGTCTTTGCCCACTAGCTACAGAAGAAATTCCAAACATGGTAGCCTGGGCCATCACTCCACAGATGAAAGAGATCTTCCTAAGTTCAGATCCTAGTCTTCGCCTTCAAGACACCTGCTCCAAGCAACAGCTACTCCACGTCCTGGGGTCAGACACACTCAGATCTCTGTGTTCGCCAAAGTGCTTCCTCCACATATTCATACATCCTAGGCCTTCACCTTCCTCAACACTCCTCCTTTCCAGGCACATGTCATGCCTGCCGAAAAGCTACACACACGCACACACACATGCACGCTTAAATGTTTTCCATTCACACATGCACACACTCACATGCAAACATGCTTACAGAGCCACACTCACACTTTCACGTGTGCACATACTCACAGAGTTCCAAGCCATCACTGCTTCTTTTTTCTAAAGTTTCTCCAGCCCATTTCTGCTTGTCAAGATCACAGGTATCACTATGGACACCTTTAAAGAAAACAAGAGACAGCCCCTTTTCTGTGGGGGAGCGGTGTCCATAACACCCACATAAGAATGCAAAGAATTGGAAGTGAGGCATTTTCCAGGCTGGGGAGAATAAGTCAGAAACACACACCCTGGTGTGTTGGGTGGGAAAGGTCTGTGCAGGGAACATGAACCCCGGGCTCCCCTCAGCCCCTGGTTCTGTTCTGTCTGACTTTTCCCAGAGGCTGAAACAGTGAGCTGAAACATCTGGCCCTATTTTCACAGCTACTCTTGGGAAGTCCTACAGAATTATCAATCTTGAACATCCATAGAGCCAAGAAAGCAGAGTGCCAGGAGGAAAAGCACTTCCTCCCAAATGCCTGGCTGGGCTGTGGGGCTGGTCTCCGGGCTTTCCTCCAGAATGTTCACTTTTTCCGTGGCGTTGGCCATTGGTTCAGAGGCAGACCAGACCCGCCAACCAGAGCAGGTGGCACCGACCCTGGCCCCAGTTTCCCAGGACTGGTTTGCCCACATCTGTCCTCACCCCATGCAGAGTGGTCACCCAGCCCGATGCTTGAAAATGCATCAAACCATGTTGCTTCTCTGCAGGAAACCCTAAGGTTCCCATTTCATACACAGCCAACGACATATCCTTATATTCGCTCCCAGGCCCTTTCTGGTGGAGCACA
CTTTGCCATTTTTTCCACCCCACAGGGTCCGAGGTCTCCTAATCTACCTGGCCAGCTTCCCTTGTCTCAGGGGTGACAGCGTCCCATTTTGCCTTTGTGGCAGAACAAGGAGAACCGCACCCACAGGTGATCAAGGCTGTGGCTCAGAAGCGGCGCCATCTGTGGCGGTCATGGGCAGGTGGCCCCACAGGCCTGGGTCTGGGCAACACAGTGAGTATGGAAGATGCTACAGGCCAAGCCTTAGGGGCTGGTGGCCCCAAGGGCCCGGATCTGCAGACACCAAGCTCTGCCTCTCTCTCTGCCCCTGATACAACAGCAGGAACCCGAAGCTGCCCAACAGCCACAGTGTCAGTTTTGGTGTTTTCTGGTGCGAACAGTGTATTTTTCCCTGCAGTCAACCCCTCTGCCAGAAAAGTATAGCTCATCTCTAAGCTGAAAATGTGCCACAGCTCAGCAAAGCTCCTCTCTTGGAACAAAACAGGCCGGTGGAAGGGCCCTCCACCGTCCATCCACCCCTGGCTCTGCCCCCTCCCCACAACCACGCAGCCACGGGAGGCTGCAGGTTCCCATCTTGACCTTCATGGACTTGACCTTCATCTCACCTCTGCACGACACGAACAAAACTCACACACAGAGACAAATAACACACACACCACAGTTCAGGTGTTCCAGGTGCCTAGGTACACGAGCCATCCCACACAGCCTCTTCAGCTCACCTTTTCAGTTTCTCCCGGATCTCAGGGTTTTTAATCTCATTTTTCAGGTCCTCGAACGTGTGTGCCGCCGATAGATTGCAGTAGACCCTGTAGTCGTGGTAGGGTGGGATCCCGTGGTCCCGGCCCCGCTGGATGTTGATGGCCGCCAGGTCCAGAGCCACCGTGTGTGCCATGGAGAACAGCCGCTCCGTGAGCTCCGTGTTCAGCAGCTGCGAGGGCACACGCATTTTCCCCGCCACCCCGAACAGCCCCCTGAGAAGCGGATCGATGCCGCCCTCATTCACAATCCGGAAGGGAGAGAAGAAAGCTTTGTGAAGGGGGAGGTGATCTTGTGCAATGGGCTGGAAGTTCTCGTCCAGCCGGTAAAGCAGTGGGTTGACAAGCGTGTGGCCAAACCTGAAGGCCGCGGTGGCGAAGGCGTTGAAGATGCCAGCATTGATGCCGGGGTCGTAGCCGTGGTACTCTCCCAGCGTCCTCATGCCCACCTCCCCCAGGATCTTCGGGAGCCAGTGCTGGTAGGTGATGTGCTGGATCTCCGCACCCACGATCTTCCTGGTCTCATAGTAGATGGTGTCGCCGTCCCAGTGCGGGTTCAGCTTGAGCAGCTCCGTGGCAATGCGGTTGTGCTCGCGGAACCACAGCGTGTGCATGCTGGTCAGGCCCAGCTGCTCGTTGGCGCGGTGGTCCCCGGCCAGGAAGCAGGGGATGGGGCTCTCGTTCTCGTCCCGCATGCACTCCGTGGGCGGCCCGGTGGCGAAGGGGAGCAGCGGCTTCCCGGACCGCTGCACGATGCCCTGCCGCAGCAGGCCGCGGTGGCTGGCCAGGTCGCGGATGCTGCGGGCCTCATGCTCCGTGCTCCCGTACACGTTGGATGCGTCTATGTAGGAGGTGAGCTGGTTGATCTGCTCCCGCGGGTACACGGAGTTCATGAGCAGCGAAGTCATGCCGCTGCCGCACACAGGGCTGGAGCGCACGAAGAACATGCAGCGGGCCCCGCTCCTGGCCCGGGAGTCATTGGGGGGGATCATGACAGAGAAGCAGGGGGGGTCGTTGCTGCACACGTTGCTGCAGTGCTGTCCGTCGGAGAAGCGTGCCTGGCTCAGGGCCACCACCGTGGAGTCGAGGTCGTGGTCCAGGAACTGGCCCCACTGCATCAGCATGTGGGTGAACTGCTCGTCGGGTGTGACGGTCTCCGTCCCGATCAGGGTGGTGGACACCAGGCGCGGCATGGGAAGGGCGTGCCCGTTGTACAGTCGGTGGGGGTTGATGCCCCGAGGGGTGTTGAAGCCATTCTCGTACACGGATTTCAGCAGGCGCTCGAAGGCGGTCAGCAAGGCGCCCCACATGGGGTGCTGCAGGTTGTTACAGGTGCCGTCGTGCGTCCGGTACTTCTGGTGGAAGCACATGTCCGAGCAGTTGTTCACGCGCCGGTGGGCGGTACAGCCCGACAGGTTTGCGATGAGGTTCAGGTACTGTGGAGACACCAGGTCGTTGTAGTGGTAACCTGGGACGTGGAGAAAAGCAAGACGCACTCAATTCCCCTGGAGGATGTGTGAGGGCCCGGTACCCCTTGGCACCTCTGCCGCTGACATGGGGCTATCTACCCCCAGCTCATGAAACCTGTTGTGCGCCATGCAACAAGCGCTTCCTGCTGGAAACCTGCTCACCTCCTGTTTGGTAAAACTGCTCCTCCCCTCCTCCAGCCCCAAACACAGGTATTCTCTCCACAGCCCCAGTTTCTGGGCCCTGTCTCCCCTCCCCACTTAGCAGTCTCATGGTTTCAACCAGCAGCTCTCCTCTGGGAGACCCCTAACCGATGGAGCCCGACCCACGTTGACCAGTCCAGGCTGACACTGTTCCAACCTCACTTTAAACGCCCCGTGTAAGAGACAGTCACCACACCTCCACACGAGTGCACACCATCGGTCTCCACAGGCTGCCGAGCAGGGCATTTCCTGACACCTGTCACTGCACATCTCGGTCCACTGAGGCTTCATGCTGTTCCCTCAACGTCCAAAAGAGTGCCACTTCCTTTCACGCTACCTCAAAATGTTCCTAGCCGCCGCGCCCTCCTCTCCATTTCTCTGGCAGAATCCTGGGACTGATTTCCATGGCACTGGCCTTCAATTCCAGAAGGGCCTCCTGCCTGGTGGAGGTCATCCACACGCCCTCCCCACAGCAAGCGCACGCTCCCATGAGCCTGGCACAGGCTCCGACTAGGTCACCTTCTTGCTCAGAGACCTTCTGTCTTTGCCCACTAGCTACAGAAGAAATTCCAAACATGGTAGCCTGGGCCATCACTCCACAGATGAAAGAGATCTTCCTAAGTTCAGATCCTAGTCTTCGCCTTCAAGACACCTGCTCCAAGCAACAGCTACTCCACGTCCTGGGGTCAGACACACTCAGATCTCTGTGTTCGCCAAAGTGCTTCCTCCACATATTCATACATCCTAGGCCTTCACCTTCCTCAACACTCCTCCTTTCCAGGCACATGTCATGCCTGCCGAAAAGCTACACACACGCACACACACATGCACGCTTAAATGTTTTCCATTCACACATGCACACACTCACATGCAAACATGCTTACAGAGCCACACTCACACTTTCACGTGTGCACATACTCACAGAGTTCCAAGCCATCACTGCTTCTTTTTTCTAAAGTTTCTCCAGCCCATTTCTGCTTGTCAAGATCACAGGTATCACTATGGACACCTTTAAAGAAAACAAGAGACAGCCCCTTTTCTGTGGGGGAGCGGTGTCCATAACACCCACATAAGAATGCAAAGAATTGGAAGTGAGGCATTTTCCAGGCTGGGGAGAATAAGTCAGAAACACACACCCTGGTGTGTTGGGTGGGAAAGGTCTGTGCAGGGAACATGAACCCCGGGCTCCCCTCAGCCCCTGGTTCTGTTCTGTCTGACTTTTCCCAGAGGCTGAAACAGTGAGCTGAAACATCTGGCCCTATTTTCACAGCTACTCTTGGGAAGTCCTACAGAATTATCAATCTTGAACATCCATAGAGCCAAGAAAGCAGAGTGCCAGGAGGAAAAGCACTTCCTCCCAAATGCCTGGCTGGGCTGTGGGGCTGGTCTCCGGGCTTTCCTCCAGAATGTTCACTTTTTCCGTGGCGTTGGCCATTGGTTCAGAGGCAGACCAGACCCGCCAACCAGAGCAGGTGGCACCGACCCTGGCCCCAGTTTCCCAGGACTGGTTTGCCCACATCTGTCCTCACCCCATGCAGAGTGGTCACCCAGCCCGATGCTTGAAAATGCATCAAACCATGTTGCTTCTCTGCAGGAAACCCTAAGGTTCCCATTTCATACACAGCCAACGACATATCCTTATATTCGCTCCCAGGCCCTTTCTGGTGGAGCACA
Task1_train_3101
This gene mutation involves PXDN (peroxidasin) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
Pathogenic; Anterior segment dysgenesis 7
TGTTGTGCGAGTGGACGATGATGTCACCCGTCTACTCTCAGCTCCTTTTTCAAATTCGGTGAGGCGTTTGTGGACGAGCACACCATGCAAAGCGGAGCAGAGGACCCCATGTGTGTCCTACGACACTTATTTTAACATGTTATTTTCAACAAGCAATTAATATTCCGGGGCAAAACATACCGCAAGCTTTATGAAACTGACCAGATGGGAAAAATCTTTGAGGTGCCATTTTTCCACTGGCTCAGCAAGAATTACATTATCCAGACCCAGGGAAACCTCACCCGGCTCCATTCTAAAAGTCCACTGCTGTTGAGTGAGATGCCCCCGAGTCGTCCGGCCTGGGCTGACCATTCACGGGCTCTGGAAAGAAAGCCTTGGTCTCTCTGCGGAGGAGGAGAGGAACTCGGGCCCCCGCCCCGCCCCAGGGCCTCCAGGAAGCAGCCTGCAAACTCGGCGACCCCTGGGAGCCGTGGTCTGTCCCAGCACTTTGTTTCGGAGGTAGGCGCACTGGCCGCCCACTTCCTGAATTGTTCACTCAATTTTTTTACAACTTTTGCAGACTCTTTGCTGGTGCCAAAAAGTCCTCTGGCTCAGCTAAGAAACGTGAAAACTATTTTTGGCATGCAGAAAAGTCGCTACAGGACTAAATTAGAGTCGGCGCCTGAAACGCAGCCCGCGTTCACAGATCCCGAAAATGTTGAATCCGACTCGCTTCAGAACACAGGAGGCCTGCAGCGAACTCTGGCGGCATCTCGGTACCTGGAGCCGCGGGGCGGAGGGATGGGGATTCCTGCTGTGGAGACCGTGACGCGGGACGGCCCGCAGGACAGGGTGTCAACCCCAACGCAACGCATCCGGTTAAACGTATAGCGCAACTGCGAACACGCTCGCGTGGATTAGAAGCGAAAGAAGAGAAATGCCCGAGGCAGAAACCCGCTCTGAGTCCCGGCTCCATCTAGACCCGGGCTGCCCCGAGACTACCGCGCGGCCCCTCTCGGGAACCCCGGCCGCCCGGCTCGCTCCGGGCGCAGGAAAAGCCCCTGAGAAGCGCGGGGCCCCCAGGACACCCCAGGAGAGGACGCTCCGGGCAGATGCGGGGGCACTGGGAGCGGGGGCGCCGCGGCTGCGGGAACTGAGGCTCCTCTGGGGAGGCTTCCCCGGCGCGGGGGGATGGGGTGGGCACTGCGCTCCAAGGGGCGGGGGAGGGGGAGAGGGCGGAGGCTGGGGGAGGAGAAGGAAGGGGGGGAGGAGGAGGGGAAGGGAGGAGGAGGAGGAAGGGGAGGAGGAGGAGGAAGGGGAGGAGGAGGAGGAAGGGGAGGAGGAAGAGGAGCGGAGGAGGGGAGCGAACAGGACGAGGAACGGGGCGGAGGGGGCTGGGAGGACGGAGGGGGCTGCGCCGCGCTCGGGGAGCGGAGGGGGACCGAGGGGTCCTGAGCGGGGGAAAGGTGAGCGGAGGAGGGGCCGCGAACCAGGGGGAAGCGGGAGGCCGGCGGAGCATGAGAGGGGGCGGCGGGAGGCGAGCGGGGGGAGCCCCGGAGGCTCCAACAACTTCCCAGTCCTGCGGGGATTCCGAGTTCCGAACAAAGGCGGCTACGAAGGCCGCGCGCACAGCGCTCTGTTCCGCCCCTCGGCGTCTCCCGCAGGGCGAACAAAGGCCCAGCGGGTCCCCGCGCCCAGGTCCCCCCACGTCCCCCTTCGGAGGTTCCCTTCTGCGTCCCAAGTCCCCAGGCCCCCCGCGCGCCCGATGCCCCCTCCACCCTCCGCGCCCCCCACCTCCGATCACCCCTGCGCTCCCGGATCTCCACGAAGCCCCGGACCCCGCGCCCCCGGCGTCCCCCGCGGCACTCACAGGATGGAGGTCTGCGGCGCCACGGCGGGCACGGCCTCCAGCAGCAGATGCATGCAGCGCACGGTGGTGCGGAAGCACAGGCAGCGGCTCGGACACCCTGCGCCCGGCTTCTGGGCCACCACGGCCAGCGTCCCCCAGGCGCAGAACAGCACGAGCGCCAACAGGCAGCGGCGCCCGGGGCCCCTGGAGCGCTTGGCCATGGCCGACGGCGCGGACGGACGCTCGGACGCACGGAGCCACCACGGCCGGCTCCCGACTGCGCCCGCCCGGCCGCGGCCCACGTCCCAGCTGTGCGCGGGGGGCGGGGGGCGCCAGCTGTGCACATGCGCGAGGCTCCTCCCGGCCCCTCTGAATCCCCGAGGGCGGGGCGGGGCGAGAACCCGGGGCCCCAGCGTCCGGCCTGAGCGCCCTCATCCCGGTGGGGCGGCCCGCATGGCCAAGGCGAGCGCTCGGGGGCGCGGAGGAGAGCATTGGCACCCCTGATTCTGCGCTCGAGACTCGGGGCTCGGGACCCTGGGGCCTACGCGAAGCTTCTCCACTTCTCTTACCCGTGGTTTCTGCCTGCGCTCACTACGGGTTTTTTAGTTGGCGCCTTAATGTTTGTAACACTTTTAGAGCGCTTGCTCTGATCCGGGCACGATTCCAGGCGCGCAGGCGCGCTCCTCTCTTTCTCCTTCTCCCTACCCGCAACCACGTAGGAAATTATTTAACGTTCCAAAAAAGCCCCTCATTCCTTTTGAGGAAACTGAGGCCCAAGCCCCAAAGCGCACAGCAAGGGAGTCTGCGGGAAGATTAGACCCAGGCGGTCCGGCTCCCCGGGGCCTGTCAGCCACCTGCTCTCTGCCGGCCGCCTGGCTCAGCACAGTTGGGAAAATGAAAGGTCCTGTGTGGAGTCCTTGGCGCGGCGCAATGCAGCCCCCGGGATTCTCGCGGCCTTCAGTGCGTGCCCTCCTGGGACAGACCTAGGAGGAGACCCAGGGAACCCCCCCCCCCCACGTCGGGTGTGTCTAGAGACAGCAGAAGACTTTGGAAAGGAGGGAAGACACTGCGTGAGATACGCACAAAGGTGGCGTTCTCACATAGTTCATACATTCTCTCCAATCATCTCACAAGGACCCAGTCTGAATTTCACAGACAAGGAAGGTGAGGCCAAGTTGCTGAACCCAGGCCACAGGGTGACGGTGCCAGATTCAGAGGCACAGCATGGGCGTGTTCCCGTCGCAAACCCCAAGTCTCAGCTGTGTCCCCGTGCTGGTGTTCTAGCCTGAGCTGCGTTTGAAAGCAGCCTGGAATGGGATTGGTGGGTAATAGGCTAGTTTCCTGTTGCTATGTTAAAACACAAAAGCAACTACCACGAGACATAGCCCGGAGGTCACAGGTGCATTGCTGACCACAGGGCACCATCTAAGGACTGGACCCCCGAGGCTGCTGGCAGGGGGTTCCAGTTCCTTGCCGTGTGGGTCTCCATGGCCTGCACACTGGACATGGCCTGATGCCTCCCAGAGCAGGTATTAGAAGAAAGAGGAAGAGAATGAGAGTACAACACAGAAGCCAGGGTAAAACCTAACCCAGCCTTGGAACTGGCCCCGCATCACACCTGCGGGGTGCATCCTCAGAGGTCGGTGGCTCCCGCTGACATTCCAGATGCCATCTTTCCTGCAGGATTTTATCCACCCTCTACAGCGGATGCAGCTCACACTCCGGATTCCATTTCTCCTGCAGGATCCTATTCACACACTCCGGTGGGCCCAGCTCACACTGCAGACAACATCTCTCCTGCAGGATACTATCCACACACAGAAGTGGGTCCAGCTCACACTGCAGACATCTCTCCTGCAAGATCCTATTCACACATTCCAGTGACTCCAGTTCACACTGTAGATGCCAAAACTTATGCAGGATTCTATGCACACACACTAGTGGTGCATTTCACACTCCGGATGCCGTATCTTCTGCAGAATCCTGTCCACACATTTCAGTGGGTCCAGTTCACGCTCTACATGTGCTCTCTCCTGCGGGCTCCTATCCACACACTCCGGAGGTGCCATTCACACTCTAGATGCCATCTCTCCTGCAGGACGATGTCCACACCCTCCAGTGGGTCCAGTTCACACTCTAGAGGACATCACTTTTGCAGGATCCTCTCTACACATTCCACCGGTGCCATTCACACCACAGATGCTGTCTCTTTGCAGAGTCCTATCCACATGCCCCAGGGCTGCAGCTCACACTGCAGACACCATCACC
TGTTGTGCGAGTGGACGATGATGTCACCCGTCTACTCTCAGCTCCTTTTTCAAATTCGGTGAGGCGTTTGTGGACGAGCACACCATGCAAAGCGGAGCAGAGGACCCCATGTGTGTCCTACGACACTTATTTTAACATGTTATTTTCAACAAGCAATTAATATTCCGGGGCAAAACATACCGCAAGCTTTATGAAACTGACCAGATGGGAAAAATCTTTGAGGTGCCATTTTTCCACTGGCTCAGCAAGAATTACATTATCCAGACCCAGGGAAACCTCACCCGGCTCCATTCTAAAAGTCCACTGCTGTTGAGTGAGATGCCCCCGAGTCGTCCGGCCTGGGCTGACCATTCACGGGCTCTGGAAAGAAAGCCTTGGTCTCTCTGCGGAGGAGGAGAGGAACTCGGGCCCCCGCCCCGCCCCAGGGCCTCCAGGAAGCAGCCTGCAAACTCGGCGACCCCTGGGAGCCGTGGTCTGTCCCAGCACTTTGTTTCGGAGGTAGGCGCACTGGCCGCCCACTTCCTGAATTGTTCACTCAATTTTTTTACAACTTTTGCAGACTCTTTGCTGGTGCCAAAAAGTCCTCTGGCTCAGCTAAGAAACGTGAAAACTATTTTTGGCATGCAGAAAAGTCGCTACAGGACTAAATTAGAGTCGGCGCCTGAAACGCAGCCCGCGTTCACAGATCCCGAAAATGTTGAATCCGACTCGCTTCAGAACACAGGAGGCCTGCAGCGAACTCTGGCGGCATCTCGGTACCTGGAGCCGCGGGGCGGAGGGATGGGGATTCCTGCTGTGGAGACCGTGACGCGGGACGGCCCGCAGGACAGGGTGTCAACCCCAACGCAACGCATCCGGTTAAACGTATAGCGCAACTGCGAACACGCTCGCGTGGATTAGAAGCGAAAGAAGAGAAATGCCCGAGGCAGAAACCCGCTCTGAGTCCCGGCTCCATCTAGACCCGGGCTGCCCCGAGACTACCGCGCGGCCCCTCTCGGGAACCCCGGCCGCCCGGCTCGCTCCGGGCGCAGGAAAAGCCCCTGAGAAGCGCGGGGCCCCCAGGACACCCCAGGAGAGGACGCTCCGGGCAGATGCGGGGGCACTGGGAGCGGGGGCGCCGCGGCTGCGGGAACTGAGGCTCCTCTGGGGAGGCTTCCCCGGCGCGGGGGGATGGGGTGGGCACTGCGCTCCAAGGGGCGGGGGAGGGGGAGAGGGCGGAGGCTGGGGGAGGAGAAGGAAGGGGGGGAGGAGGAGGGGAAGGGAGGAGGAGGAGGAAGGGGAGGAGGAGGAGGAAGGGGAGGAGGAGGAGGAAGGGGAGGAGGAAGAGGAGCGGAGGAGGGGAGCGAACAGGACGAGGAACGGGGCGGAGGGGGCTGGGAGGACGGAGGGGGCTGCGCCGCGCTCGGGGAGCGGAGGGGGACCGAGGGGTCCTGAGCGGGGGAAAGGTGAGCGGAGGAGGGGCCGCGAACCAGGGGGAAGCGGGAGGCCGGCGGAGCATGAGAGGGGGCGGCGGGAGGCGAGCGGGGGGAGCCCCGGAGGCTCCAACAACTTCCCAGTCCTGCGGGGATTCCGAGTTCCGAACAAAGGCGGCTACGAAGGCCGCGCGCACAGCGCTCTGTTCCGCCCCTCGGCGTCTCCCGCAGGGCGAACAAAGGCCCAGCGGGTCCCCGCGCCCAGGTCCCCCCACGTCCCCCTTCGGAGGTTCCCTTCTGCGTCCCAAGTCCCCAGGCCCCCCGCGCGCCCGATGCCCCCTCCACCCTCCGCGCCCCCCACCTCCGATCACCCCTGCGCTCCCGGATCTCCACGAAGCCCCGGACCCCGCGCCCCCGGCGTCCCCCGCGGCACTCACAGGATGGAGGTCTGCGGCGCCACGGCGGGCACGGCCTCCAGCAGCAGATGCATGCAGCGCACGGTGGTGCGGAAGCACAGGCAGCGGCTCGGACACCCTGCGCCCGGCTTCTGGGCCACCACGGCCAGCGTCCCCCAGGCGCAGAACAGCACGAGCGCCAACAGGCAGCGGCGCCCGGGGCCCCTGGAGCGCTTGGCCACGGCCGACGGCGCGGACGGACGCTCGGACGCACGGAGCCACCACGGCCGGCTCCCGACTGCGCCCGCCCGGCCGCGGCCCACGTCCCAGCTGTGCGCGGGGGGCGGGGGGCGCCAGCTGTGCACATGCGCGAGGCTCCTCCCGGCCCCTCTGAATCCCCGAGGGCGGGGCGGGGCGAGAACCCGGGGCCCCAGCGTCCGGCCTGAGCGCCCTCATCCCGGTGGGGCGGCCCGCATGGCCAAGGCGAGCGCTCGGGGGCGCGGAGGAGAGCATTGGCACCCCTGATTCTGCGCTCGAGACTCGGGGCTCGGGACCCTGGGGCCTACGCGAAGCTTCTCCACTTCTCTTACCCGTGGTTTCTGCCTGCGCTCACTACGGGTTTTTTAGTTGGCGCCTTAATGTTTGTAACACTTTTAGAGCGCTTGCTCTGATCCGGGCACGATTCCAGGCGCGCAGGCGCGCTCCTCTCTTTCTCCTTCTCCCTACCCGCAACCACGTAGGAAATTATTTAACGTTCCAAAAAAGCCCCTCATTCCTTTTGAGGAAACTGAGGCCCAAGCCCCAAAGCGCACAGCAAGGGAGTCTGCGGGAAGATTAGACCCAGGCGGTCCGGCTCCCCGGGGCCTGTCAGCCACCTGCTCTCTGCCGGCCGCCTGGCTCAGCACAGTTGGGAAAATGAAAGGTCCTGTGTGGAGTCCTTGGCGCGGCGCAATGCAGCCCCCGGGATTCTCGCGGCCTTCAGTGCGTGCCCTCCTGGGACAGACCTAGGAGGAGACCCAGGGAACCCCCCCCCCCCACGTCGGGTGTGTCTAGAGACAGCAGAAGACTTTGGAAAGGAGGGAAGACACTGCGTGAGATACGCACAAAGGTGGCGTTCTCACATAGTTCATACATTCTCTCCAATCATCTCACAAGGACCCAGTCTGAATTTCACAGACAAGGAAGGTGAGGCCAAGTTGCTGAACCCAGGCCACAGGGTGACGGTGCCAGATTCAGAGGCACAGCATGGGCGTGTTCCCGTCGCAAACCCCAAGTCTCAGCTGTGTCCCCGTGCTGGTGTTCTAGCCTGAGCTGCGTTTGAAAGCAGCCTGGAATGGGATTGGTGGGTAATAGGCTAGTTTCCTGTTGCTATGTTAAAACACAAAAGCAACTACCACGAGACATAGCCCGGAGGTCACAGGTGCATTGCTGACCACAGGGCACCATCTAAGGACTGGACCCCCGAGGCTGCTGGCAGGGGGTTCCAGTTCCTTGCCGTGTGGGTCTCCATGGCCTGCACACTGGACATGGCCTGATGCCTCCCAGAGCAGGTATTAGAAGAAAGAGGAAGAGAATGAGAGTACAACACAGAAGCCAGGGTAAAACCTAACCCAGCCTTGGAACTGGCCCCGCATCACACCTGCGGGGTGCATCCTCAGAGGTCGGTGGCTCCCGCTGACATTCCAGATGCCATCTTTCCTGCAGGATTTTATCCACCCTCTACAGCGGATGCAGCTCACACTCCGGATTCCATTTCTCCTGCAGGATCCTATTCACACACTCCGGTGGGCCCAGCTCACACTGCAGACAACATCTCTCCTGCAGGATACTATCCACACACAGAAGTGGGTCCAGCTCACACTGCAGACATCTCTCCTGCAAGATCCTATTCACACATTCCAGTGACTCCAGTTCACACTGTAGATGCCAAAACTTATGCAGGATTCTATGCACACACACTAGTGGTGCATTTCACACTCCGGATGCCGTATCTTCTGCAGAATCCTGTCCACACATTTCAGTGGGTCCAGTTCACGCTCTACATGTGCTCTCTCCTGCGGGCTCCTATCCACACACTCCGGAGGTGCCATTCACACTCTAGATGCCATCTCTCCTGCAGGACGATGTCCACACCCTCCAGTGGGTCCAGTTCACACTCTAGAGGACATCACTTTTGCAGGATCCTCTCTACACATTCCACCGGTGCCATTCACACCACAGATGCTGTCTCTTTGCAGAGTCCTATCCACATGCCCCAGGGCTGCAGCTCACACTGCAGACACCATCACC
Task1_train_3102
A sequence alteration has been identified in MYT1L (myelin transcription factor 1 like) on Chromosome 2. Is it disease-inducing or harmless?
Pathogenic; Intellectual disability
ACCATGAAGCAACATTTGGTCATTGAAACATTAGTGTTTTTATAGAAGATGCTTGATTGAAATTCTTAGTTTTGAAGATCCATTCATAGAAAGGGACAATTTAAGAAATTCAGTCAAGTTCAGATTTCCCAGAAAGGCTCTATCAGAATAGGATTGACTTTTTGCAAAGATAGGTTTAGACACATGTGTGGCTTTTCGATCAACCAAAATTAGCAAAAGGCCATCCACCTCCTGTAAGATACAGTCTCCCCTCCAGGACAAGACAGGAAGGAGGGGCTGCCCATGCGCACCCTGCCCTGGAAGGCATGAAGAGCTAACCGGCTCCCTCGGAAAATGCTAAAGGTGGGGACCGTCACACCATCTTGCAAGATGAAGTAAGAGAAGAAGAAAGTGCCGATGCTGGAGAAACAGCAAGTTGGCTCGGAATTTCAAATCAACATAAGCCGCCAAGCCCAACGTGAAGGGATGCAAGCCAAAGAAAACGAATCCCTGCAGTCTCTGACCAGTTAGAGGCAACACTAGAAGCAACTTTTACAGAGGCTGTTTTCCTGTCTACAGCTGGCCTGTTGGAACTGGAGATGTGCCAATCTTTGGCAAAGTGTCCCTCATCAAGAAATTCAAAGGAATGCTGCCATGTTCTGATGTATTGGCCAAGTTCCAAGTGGAGTTAGTCATGTTTTGACCATGAGGGAAATGTGGTTTCGAGCCATACAAAAGACGCCTGAACAAAGTGGGTTGAACTGCTCTTGCTAATGCTGTCCGTTTTGAGATCCTAAATCTACTTTTCCATGAGGCACTGTTTTGGATGAGGCTACAGACTTTACAGCCGTTAGGTAAGAGGAAGCCCTCCAGGCGTTTACATTCCATGAAGAAAGTTCCAAGGGTCTTGTGGCGAAAGAGCTAGTTCAGGAAGTCACTGAACATAAGCAGGTGATCTAGGGCCCTAGGGCCTTGGACAGGGATCCTGTAAAAGATGACATGGGTGTGAAATAGAAGCCTACACTTTGCAATAGTCCTGGTCTATCGTCAGGGTCCTCGGATGCCGAGGTGGGGTGGGATGATTGGGAAAGAGATCAAATGTGGGTTGAAAAGCAGCATTATCTTTGCCTGGATAACGCTTTTTCCAAACAAAAGGAAAACCAAGCAATTTGACATAATGATATGGCCTGTCCGATAATTTAAATCGATTATCTGGGGACTCCTGGCTCTCATCTCGCTGTGAGCATCTCCCAGGTCTCACCCTCTTTCCCTGTGTGCACCTGCACGTATGCTCTCCCCGGATTGCGGAGGCTTTGAGACTCCCCCTGTGACTTCTACCCACTTCTTCCAAACCTGTCTGGACCTACATCTAGAGATGTCTATGTGAAGGAGGAAAATCTCAGTGTTGCAGTATAAATGTAGGTATTTCACCAATTTGCCAGATTTATGCTTAAAAATTATAGGCATAGAGAAGAGGGAGGTAAAACTCTAGAATGATGTGTGTCTGGTTGAATTCCATGACTCTCCGGATCCCCGAACCGTGAGTTGTCACTGTCCTAAAGAGTATTCATGACTAAGACCACAGTGTATTTAAGAAATTAGCTATTATGATGGTAGATTTTGTCATAAGTGCTATTTAAGTATCCATATTGTAAATACTGCTATGAATTTCTTTTAAAAATTAAATTTTGATTATTTACAGTCATTTTCTAAAAATTTGAGTAACTGTAAAATTTCCCTTCCATATGCATGCATATCTGAAGAGAAAACACCCATGCTTTAGGATATCCCAGATAGGAAGGATATGATATGAACAAGCTGGAGGTATGTCAGGGGAAAAGGCAGAATGGGTTGTGTGGAAAAGTGGCTGAAATTCCGAGGATTCAATCCCATGTCTACATCAAGGCACTGGGGTGCACAGGCCATGTTTTTTAACAGACATTTTTCTTTGCAAATGACATATCATTTTTTTTTGTGAACTACTGAGTGCATGGATTTTTAAAAGAGAATTATTGTCATTAAATCTTACTTGAGTTCTTGGGAGCTGGTGGCCAGCATACTTCGAATGCTTTTGTCCGCCAGGGGGCAGCCAGACAGACTGTAAGACAGGCCGGGACAGGCAGGTCAGTCAACTGCGAAGCGCGTAACTCCCAAACAAACACAACATAAAAACCGAAATTAAAGAGTTTAATGCAGAAAAGCAATGGGCAAGTGCTGTATATTGAATTTTTTTTTGTGTAATTAATTCTGAATCGGTTCGAATATAAATTTAAGAAAATATTTCTTAATAAGCAATTGTTTAAAAATAAGATAAAACATTTGTGCTCTTTGGCTTAAATGCTTAAGAAGAATTTTACAAATTTAGGTCGTTTATTTGAAAATAAAAGACATTATACAACACATAAATTAGCATGCTTTTGAAGGTCAACATATAGCACTTAAAGGGTTGACACAGAATTCAACATTTTTACTTTGACAGCATTGTTGAGGTAAGCTGAAAACAATAAATTGAAAAGACAGAATCCACCATGAGAAAAATGAAGTCACACCTTCTGTGTGAGGCGTAATTACCAGTCACATGACCACTCCCATCACACCCTGGAGTTGGACATCTGCCACCAAACAAAAACAAAAACAGCCAAAATAGTAAGTATGTTTAAAAAAAAAAAAAACTTTTAAAAAAGTTTCATTGTTTCCAGTTTAGCTGCAATGTCTGCAAGGGGATTTAAGCACCCTGAAGAAAAGCGGCAAAATGCACGGGTTAAATGAAAATGACGCCCCCATCCGACAGAGCGTCACTGGGAACAGGCAAGTGCACGGTTAGCTGCTCACTCTACTGACCCAGCAGTCGGAAACATTTATATGCTGCGAATGTCGCATGCTCAAACGGCAAGGCATATACAGATCCAGTTTTAAAAAATCAGCCAAAGAATGGGAAGATTAAGAAGATTCATAATTTCACCTCACAGCATGCTTACGTTATTAAGTCCTTTTTGCTCTCCTTGCACTGAGGGTACTTGGGTTTGGGACTTGGGATGGTCACCTCCCCGGGATACCGTCTTTCTTCTAGAGCCTCCTGGAATGGGTCCAAGTCTTCTGGCTGTGGGCAAAACACAGCTTCAGAGCCACACGGATGATCACATGGCACACAGACTGAGGGAGGTGGTTCGTGGCTCTGGGGTGGCCTCTACATCTTACACCTCTTTCTGCTGTACCTTTAAGATCCTTTTGGTCCTGATAACGCCCCTACTGAAAATGCATATTGAACTTTTCTTCCACTGCTCTAAACTCCTAAAATGATGGTCACCTGTCAGTGGTCAGGGCCCTTATTCAATATTCACCTGGCTGTGCTCATCACATGGACACACACACGGTCTGGTAGCCAGAGACTACATTTAACTTGGTCTTCCTCATCCAGCATTCAGCACACACCTGTGGGTGGCTGCTTTATCCAACACTTGCCTGCAAAGATTCAACACTGGAACTACAGTGTCTTAGGGCTGAGCTTTCCCCCACCATTGGTCAGTATTTTACAAGCACATGCTTTAAGATTCAAGGTAATGGAGACCAATTTAGAGGAATGTAACTGTAAATTTCCTTTTCCCTTGTGTGTTCAACTGCAGTAACGTAGATGTTTCTACAGGTGGCAATGCTCAGCAGACACTTTCCTAAGTGTAGATACATGGGAAGGTTTGTCTTCCATGATGATCCAGGATGAAAACACTTCTGTCATTTTAGGAGGGCTTACTTTCAATTAAAATGAATTTGGAGATTCAACCACCATGCCTTATTTGGTAGTAATGATTCAACACTGCGGGAGAAAAAAATACTTAGAAATTTAGCTTGCCACTCTGATTTGGTTCTTTTTCACAATGCCTGGATATTGAAATCAATTTGAAGAATGCAGATAATAGGCTTATAAGCAGGTGCCCTCTCTGCCAATTTCTACATGGGGCTAATATTTCTTTTTTTTCCATTTCCTTGTTTCTGTAAGACACTAGTGCTTCGATGGTGGTCTCTCTATTGTACTAAAAACACATTTCATTTTTCAGTGAAGAAAGAAGATGTCATAAGACTTTAAAGTCGGTACATAAAGAAAACATTTTTCTTTATTTCT
ACCATGAAGCAACATTTGGTCATTGAAACATTAGTGTTTTTATAGAAGATGCTTGATTGAAATTCTTAGTTTTGAAGATCCATTCATAGAAAGGGACAATTTAAGAAATTCAGTCAAGTTCAGATTTCCCAGAAAGGCTCTATCAGAATAGGATTGACTTTTTGCAAAGATAGGTTTAGACACATGTGTGGCTTTTCGATCAACCAAAATTAGCAAAAGGCCATCCACCTCCTGTAAGATACAGTCTCCCCTCCAGGACAAGACAGGAAGGAGGGGCTGCCCATGCGCACCCTGCCCTGGAAGGCATGAAGAGCTAACCGGCTCCCTCGGAAAATGCTAAAGGTGGGGACCGTCACACCATCTTGCAAGATGAAGTAAGAGAAGAAGAAAGTGCCGATGCTGGAGAAACAGCAAGTTGGCTCGGAATTTCAAATCAACATAAGCCGCCAAGCCCAACGTGAAGGGATGCAAGCCAAAGAAAACGAATCCCTGCAGTCTCTGACCAGTTAGAGGCAACACTAGAAGCAACTTTTACAGAGGCTGTTTTCCTGTCTACAGCTGGCCTGTTGGAACTGGAGATGTGCCAATCTTTGGCAAAGTGTCCCTCATCAAGAAATTCAAAGGAATGCTGCCATGTTCTGATGTATTGGCCAAGTTCCAAGTGGAGTTAGTCATGTTTTGACCATGAGGGAAATGTGGTTTCGAGCCATACAAAAGACGCCTGAACAAAGTGGGTTGAACTGCTCTTGCTAATGCTGTCCGTTTTGAGATCCTAAATCTACTTTTCCATGAGGCACTGTTTTGGATGAGGCTACAGACTTTACAGCCGTTAGGTAAGAGGAAGCCCTCCAGGCGTTTACATTCCATGAAGAAAGTTCCAAGGGTCTTGTGGCGAAAGAGCTAGTTCAGGAAGTCACTGAACATAAGCAGGTGATCTAGGGCCCTAGGGCCTTGGACAGGGATCCTGTAAAAGATGACATGGGTGTGAAATAGAAGCCTACACTTTGCAATAGTCCTGGTCTATCGTCAGGGTCCTCGGATGCCGAGGTGGGGTGGGATGATTGGGAAAGAGATCAAATGTGGGTTGAAAAGCAGCATTATCTTTGCCTGGATAACGCTTTTTCCAAACAAAAGGAAAACCAAGCAATTTGACATAATGATATGGCCTGTCCGATAATTTAAATCGATTATCTGGGGACTCCTGGCTCTCATCTCGCTGTGAGCATCTCCCAGGTCTCACCCTCTTTCCCTGTGTGCACCTGCACGTATGCTCTCCCCGGATTGCGGAGGCTTTGAGACTCCCCCTGTGACTTCTACCCACTTCTTCCAAACCTGTCTGGACCTACATCTAGAGATGTCTATGTGAAGGAGGAAAATCTCAGTGTTGCAGTATAAATGTAGGTATTTCACCAATTTGCCAGATTTATGCTTAAAAATTATAGGCATAGAGAAGAGGGAGGTAAAACTCTAGAATGATGTGTGTCTGGTTGAATTCCATGACTCTCCGGATCCCCGAACCGTGAGTTGTCACTGTCCTAAAGAGTATTCATGACTAAGACCACAGTGTATTTAAGAAATTAGCTATTATGATGGTAGATTTTGTCATAAGTGCTATTTAAGTATCCATATTGTAAATACTGCTATGAATTTCTTTTAAAAATTAAATTTTGATTATTTACAGTCATTTTCTAAAAATTTGAGTAACTGTAAAATTTCCCTTCCATATGCATGCATATCTGAAGAGAAAACACCCATGCTTTAGGATATCCCAGATAGGAAGGATATGATATGAACAAGCTGGAGGTATGTCAGGGGAAAAGGCAGAATGGGTTGTGTGGAAAAGTGGCTGAAATTCCGAGGATTCAATCCCATGTCTACATCAAGGCACTGGGGTGCACAGGCCATGTTTTTTAACAGACATTTTTCTTTGCAAATGACATATCATTTTTTTTTGTGAACTACTGAGTGCATGGATTTTTAAAAGAGAATTATTGTCATTAAATCTTACTTGAGTTCTTGGGAGCTGGTGGCCAGCATACTTCGAATGCCTTTGTCCGCCAGGGGGCAGCCAGACAGACTGTAAGACAGGCCGGGACAGGCAGGTCAGTCAACTGCGAAGCGCGTAACTCCCAAACAAACACAACATAAAAACCGAAATTAAAGAGTTTAATGCAGAAAAGCAATGGGCAAGTGCTGTATATTGAATTTTTTTTTGTGTAATTAATTCTGAATCGGTTCGAATATAAATTTAAGAAAATATTTCTTAATAAGCAATTGTTTAAAAATAAGATAAAACATTTGTGCTCTTTGGCTTAAATGCTTAAGAAGAATTTTACAAATTTAGGTCGTTTATTTGAAAATAAAAGACATTATACAACACATAAATTAGCATGCTTTTGAAGGTCAACATATAGCACTTAAAGGGTTGACACAGAATTCAACATTTTTACTTTGACAGCATTGTTGAGGTAAGCTGAAAACAATAAATTGAAAAGACAGAATCCACCATGAGAAAAATGAAGTCACACCTTCTGTGTGAGGCGTAATTACCAGTCACATGACCACTCCCATCACACCCTGGAGTTGGACATCTGCCACCAAACAAAAACAAAAACAGCCAAAATAGTAAGTATGTTTAAAAAAAAAAAAAACTTTTAAAAAAGTTTCATTGTTTCCAGTTTAGCTGCAATGTCTGCAAGGGGATTTAAGCACCCTGAAGAAAAGCGGCAAAATGCACGGGTTAAATGAAAATGACGCCCCCATCCGACAGAGCGTCACTGGGAACAGGCAAGTGCACGGTTAGCTGCTCACTCTACTGACCCAGCAGTCGGAAACATTTATATGCTGCGAATGTCGCATGCTCAAACGGCAAGGCATATACAGATCCAGTTTTAAAAAATCAGCCAAAGAATGGGAAGATTAAGAAGATTCATAATTTCACCTCACAGCATGCTTACGTTATTAAGTCCTTTTTGCTCTCCTTGCACTGAGGGTACTTGGGTTTGGGACTTGGGATGGTCACCTCCCCGGGATACCGTCTTTCTTCTAGAGCCTCCTGGAATGGGTCCAAGTCTTCTGGCTGTGGGCAAAACACAGCTTCAGAGCCACACGGATGATCACATGGCACACAGACTGAGGGAGGTGGTTCGTGGCTCTGGGGTGGCCTCTACATCTTACACCTCTTTCTGCTGTACCTTTAAGATCCTTTTGGTCCTGATAACGCCCCTACTGAAAATGCATATTGAACTTTTCTTCCACTGCTCTAAACTCCTAAAATGATGGTCACCTGTCAGTGGTCAGGGCCCTTATTCAATATTCACCTGGCTGTGCTCATCACATGGACACACACACGGTCTGGTAGCCAGAGACTACATTTAACTTGGTCTTCCTCATCCAGCATTCAGCACACACCTGTGGGTGGCTGCTTTATCCAACACTTGCCTGCAAAGATTCAACACTGGAACTACAGTGTCTTAGGGCTGAGCTTTCCCCCACCATTGGTCAGTATTTTACAAGCACATGCTTTAAGATTCAAGGTAATGGAGACCAATTTAGAGGAATGTAACTGTAAATTTCCTTTTCCCTTGTGTGTTCAACTGCAGTAACGTAGATGTTTCTACAGGTGGCAATGCTCAGCAGACACTTTCCTAAGTGTAGATACATGGGAAGGTTTGTCTTCCATGATGATCCAGGATGAAAACACTTCTGTCATTTTAGGAGGGCTTACTTTCAATTAAAATGAATTTGGAGATTCAACCACCATGCCTTATTTGGTAGTAATGATTCAACACTGCGGGAGAAAAAAATACTTAGAAATTTAGCTTGCCACTCTGATTTGGTTCTTTTTCACAATGCCTGGATATTGAAATCAATTTGAAGAATGCAGATAATAGGCTTATAAGCAGGTGCCCTCTCTGCCAATTTCTACATGGGGCTAATATTTCTTTTTTTTCCATTTCCTTGTTTCTGTAAGACACTAGTGCTTCGATGGTGGTCTCTCTATTGTACTAAAAACACATTTCATTTTTCAGTGAAGAAAGAAGATGTCATAAGACTTTAAAGTCGGTACATAAAGAAAACATTTTTCTTTATTTCT
Task1_train_3103
Here’s a variant in MYT1L (myelin transcription factor 1 like) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Intellectual disability, autosomal dominant 39
CCAATTCTCTCATGTAAATTGTCACAGCGAATCCGCAGACACCAGGGGAAGAATGACACCCTTGCCCTCACACAGCCTGGCCTGGAGTGAGGGGTCCTGGCCCCGGCTTCCAGCACAGCCCCGCCCTCCAGTCCCTGCCCCTGCTGCTGTAGGGACATGCCCTGAGCGGGTGTCCCCAGCGCTCCGAGGTGTGGGGCAGACTATGGATAGAGCTCACGGATGGTGCACTCCTGCTGGGTACCTGAGCACGCGGTCCGAGGCCTGGCTGGACTTGGACACGTCGCAGCTCTGGTGCTTTTCCTGTGCCTTGGCCAGTTTCTCTGCTGCAGCGATCGGGCATCCGGAGAGGCTGCAATCACAGAAAGCGGGTTGAATGGTCCCGCCTCAAACACCTTCACAGCACACTAATCCTCCCTTAGCACCAAGACCCTGATGCAGGTGGAGCTGGTGAGGGAGGGGTAGTTTCCCAAACCTGGCACAGGCAGTCCTGATGGGTGGACTGGGAGAGGGGGAGGTAGTCATGTTTCCAGGTGCATGCTTTCTGCTGGTCTCCAGCAGAGAATGCTGGCGGCAGTGCTATGTGTGAGGTGTATTCAATCCTTCCCAATGAGAGCATCCCAGCTCCCATGCATTCGGGAGGACATAGCTGGTGAAAACTGTAGACAGATTCCATTTCTGGAGATGAAGAATTAACAGCTTGGGTAGGATGAGTTTTGAAGCCCCAGAATGGCAATGAATTGACTGTTACCAGAAGATGGAGCTCCAAGCTGATTTCCTAAATGCTATTGACTGTGGCGTCTGGGGGGCCTGTCTGACTTTAGCCCTTTGGTGTTCTCCACAAGCAGGGAAATGAAAGTGGAGAGGAAAGCAGAATGATTTCTAGGACTGCAATAAAATGTTTTGTGGAGCCAAATAGTTCAGGCTTAGTCTAGACGGAGGAGACAGCAGCTGGGCTCTTTTGTGTGCAAGCTCACTTTATGTGAAATCACCGTGTCTGCTCTGTGGGTGTCTACATACGTATCTGCTCATATGCACAGACGCTCACCCCATATATGTGTCATATCCCAAAAATACGCCTGTGCTGAGGTTTGACGGAGGCCCTGACGCTGCGGATGCTGCATCGAACAGCACACAGCACGCACCTCTCCAACCTATCGATCATTTCCTGCTTCTGCAGATTAAACACCTGAATGTCTCTGGAGGGCACAGTGGTCATTTGTTTCATTATAAATGTAACACAAAGGACCAGGTTTGCCAGTCAGACAAGCAAAAATTAGAGTGAAGCTTGTAACAGTTTCCTTCTTTTAGATACAATTTTACGTGAACTCATAAAACCATAGACTGTAAGACAAACTTTAAAAGAATCACTTTTTGGCCTCTGGGAAAAAAAAAGTTATCAGATAAGAACGCAATATTATGGGCAGCTGAGTAGTTCTTATCAAGTCTGCACAGGACAGGAAAAGAGAACTCAGATCTTTCACAAACAAAAGAGTGGTTCTGAGTCCATTGGTTAGCAGGAGTCCAGAATCTATTTCCCTGGCACCCCAGCCTCCCACAGACCACCCCCCAACCTGCTAAACATCTGCAGGTTTTCTGAAGACGTCCATACTTGTGACCTGGGGTTTCCATAGAATTCCAAGGGCAGCCAAGCCAAGCTACACACTGTACAGGCGTGCTGCATTCCAGGCCACGTCCTGTCCAATGAACACTAGGACAGCCCTGTCTTCACCTCGGAGGACAGCGAAGGCTTGGTCTCCTTCCTTCCAGCCATTGTAAATGGTCATGGTTTCCACTCCTGATACTATACCCTGCTATGATAAGGTGGGTGGGGCAACTAAAACCATCCAGTTTGCACCACAAGGGCGTGGAGTGCTTTCACTCCCGTGCATTATATGGAGGTGCCCGCACTTGGGGAGCACGGTGGGGAGCACCATATGGAGCGTGGTAGGCCCCCCAGGAAGGAGAAGGCATGGAGAGCAGCCGGTGCTCCCTCCCACACCAGTGACCCACGCGTGGCTTACCTTCGGTGGGAGTTCCTGTTGCTGTTGACATGCCCGCGCCCCGTGCAGCCCGGAGTGGGGCACTTGAGGACACTTTCATGCATGGCAAGGACTTGACAGGGAGAGGCAAAGAGAACAGCCAGTGTTAAAACAGAGGCACGGTTAGGGCACATGAAAATGCAGTCATTTAACAAAGGCCAGGTCGCTCATGATAGACAGTCCTACAAACGTTTGTGATGGGCATGGCCAGGAAAACACACATGGGAGGAGAAAGAAGGTTGACTGGACCCTACGGACCCTACACGAAAGGCCAGAGAAAGAAGGTTGACTGGACCCTACAGACCCTACATGAAAGGCCAGAGAAAGAAGGTTGACGGGACTCTATGCTAAGGGCCTCACACAGCAGAGGCGCTGGAGCCAGGAGCTGGGGAGTTCAGAGAACACAGAACTGACTCTTTCCTGATGGGCTAGGGGAGCGAGGGCCTCACAGATATTACCCATGCACAAGCATGGAGTATTGATTAGCCATAGAACAACACAGAGGCTGGGGATTTTAAAAACATGCCTGTGCTTTGGAAACACACAGCATTATGAACGTGTGGTGGGTAGATGAATACAGAACCACAAACCTTAATTTTAAATAAAATGAATTAAATAATCACTCTTCCTTTAGGAATCAAGTGCTTTATTATTCTTTAAATAGGATGAGCTAGAAGAGTAAGCGTCTGCGTTTTTACCCTGTGAAATTAACAAGCGGGAGAGGCCTCTTGCATGGACACCTTTTGTGGTGCAAGGATGCTACTGGCTGGTCGGCAGGGGAGAGCTGCTTGAATTTTCCCAGCAGTGGTGTTGGACCTGAATTATTTGTGTCTTCCTTCTTTTCTGGTCCTTCATGAACGCTCTACTACTCTGGGTTCTGGGGGAAGGTTAGCAGGGACGAAGGGACCCCCACACGGACCCTGTCTGCATCATGCTCTGCTCCTCTGAGCCCGCTGTCTCCAAACTCCAGGGGAATGGGGTGGTGGCTTTCCCTGACAGCAAGGTTTACCTGAGGCCAGGTGAACATGGAAGGTCTATTCAAAACAGATCTGCCTACTCTAGTTATGTAATTGTATTTTTGACACTTTTCCTCCTTCTCTAGAACAACCTCTCTCTTTCCCCTGCAGTCTGCTGGGCACTGAATCCCACATCCACATGGTGTTGCTGTTATCTGAGTCCACACCCTGTCTTCTTACTGCTGGGCAGTCCCTTCAGCAGAGTTTGCTTTGGTATTAGCTTTATCGCTCCCACAGTTCCTGGCTTGTCCTGGATGTGGTAGGTCCTAGTAAGTGCTGTCAGAAAAATGAATGATCAAAGTGAGTCCACCTTTGGTTCATCTTGTGCTGGCACCTGGCTGGAGGGGGTCACAGGAGGGTTCCTTTCTGAGAGGATCCAAGCACAGTTCCCTGCCCCCTTCCTCCCTGTCCCAGAGGAAGAAGTGCTGCTCCTCCCTACAGGGAGGCCTCTCCAGGAAGCATGTGCGTGGTCCTCCTTCCTGCAGGATGTCGATCTACCTACTTCGTTCATTCTTTCTTCTTTATCATTTGTCCACCACCGTGTGACAACAGCACACGAATGCTTCTCTTCACACTGCTCCCCTCTGACATGTACCTGCACCTTTCCTTTCCTTTTATGGTAAACTTTTCACATGCAGTCTTCCCTGGGGATGGCACACGGGGGTCACTCTGACCTGAGGTCCAGATGGCAAGTGCACTTTACGCCTCTCTCCTGCTGTGTGGGAATGCACACTCCCAGCCTCGCCCCTGAATCCTCCTGAGGTGGAGTGTGCTTGCTATCCTTGGTCTACACTCTGCTGCTACTTCATCCATCTCAATCACATTTCTCAAACTTCTGCAGCATGTGCAGCTCCTATCCCTCTCTCCTCTTCTCACATCTGTCTCTCGGCGTCAACAAGAGGCTTTTACTCAAGAAACCCTTCCGGGCGTGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTCACCAATATGGTGAAACCCCGTCTCTACTAAA
CCAATTCTCTCATGTAAATTGTCACAGCGAATCCGCAGACACCAGGGGAAGAATGACACCCTTGCCCTCACACAGCCTGGCCTGGAGTGAGGGGTCCTGGCCCCGGCTTCCAGCACAGCCCCGCCCTCCAGTCCCTGCCCCTGCTGCTGTAGGGACATGCCCTGAGCGGGTGTCCCCAGCGCTCCGAGGTGTGGGGCAGACTATGGATAGAGCTCACGGATGGTGCACTCCTGCTGGGTACCTGAGCACGCGGTCCGAGGCCTGGCTGGACTTGGACACGTCGCAGCTCTGGTGCTTTTCCTGTGCCTTGGCCAGTTTCTCTGCTGCAGCGATCGGGCATCCGGAGAGGCTGCAATCACAGAAAGCGGGTTGAATGGTCCCGCCTCAAACACCTTCACAGCACACTAATCCTCCCTTAGCACCAAGACCCTGATGCAGGTGGAGCTGGTGAGGGAGGGGTAGTTTCCCAAACCTGGCACAGGCAGTCCTGATGGGTGGACTGGGAGAGGGGGAGGTAGTCATGTTTCCAGGTGCATGCTTTCTGCTGGTCTCCAGCAGAGAATGCTGGCGGCAGTGCTATGTGTGAGGTGTATTCAATCCTTCCCAATGAGAGCATCCCAGCTCCCATGCATTCGGGAGGACATAGCTGGTGAAAACTGTAGACAGATTCCATTTCTGGAGATGAAGAATTAACAGCTTGGGTAGGATGAGTTTTGAAGCCCCAGAATGGCAATGAATTGACTGTTACCAGAAGATGGAGCTCCAAGCTGATTTCCTAAATGCTATTGACTGTGGCGTCTGGGGGGCCTGTCTGACTTTAGCCCTTTGGTGTTCTCCACAAGCAGGGAAATGAAAGTGGAGAGGAAAGCAGAATGATTTCTAGGACTGCAATAAAATGTTTTGTGGAGCCAAATAGTTCAGGCTTAGTCTAGACGGAGGAGACAGCAGCTGGGCTCTTTTGTGTGCAAGCTCACTTTATGTGAAATCACCGTGTCTGCTCTGTGGGTGTCTACATACGTATCTGCTCATATGCACAGACGCTCACCCCATATATGTGTCATATCCCAAAAATACGCCTGTGCTGAGGTTTGACGGAGGCCCTGACGCTGCGGATGCTGCATCGAACAGCACACAGCACGCACCTCTCCAACCTATCGATCATTTCCTGCTTCTGCAGATTAAACACCTGAATGTCTCTGGAGGGCACAGTGGTCATTTGTTTCATTATAAATGTAACACAAAGGACCAGGTTTGCCAGTCAGACAAGCAAAAATTAGAGTGAAGCTTGTAACAGTTTCCTTCTTTTAGATACAATTTTACGTGAACTCATAAAACCATAGACTGTAAGACAAACTTTAAAAGAATCACTTTTTGGCCTCTGGGAAAAAAAAAGTTATCAGATAAGAACGCAATATTATGGGCAGCTGAGTAGTTCTTATCAAGTCTGCACAGGACAGGAAAAGAGAACTCAGATCTTTCACAAACAAAAGAGTGGTTCTGAGTCCATTGGTTAGCAGGAGTCCAGAATCTATTTCCCTGGCACCCCAGCCTCCCACAGACCACCCCCCAACCTGCTAAACATCTGCAGGTTTTCTGAAGACGTCCATACTTGTGACCTGGGGTTTCCATAGAATTCCAAGGGCAGCCAAGCCAAGCTACACACTGTACAGGCGTGCTGCATTCCAGGCCACGTCCTGTCCAATGAACACTAGGACAGCCCTGTCTTCACCTCGGAGGACAGCGAAGGCTTGGTCTCCTTCCTTCCAGCCATTGTAAATGGTCATGGTTTCCACTCCTGATACTATACCCTGCTATGATAAGGTGGGTGGGGCAACTAAAACCATCCAGTTTGCACCACAAGGGCGTGGAGTGCTTTCACTCCCGTGCATTATATGGAGGTGCCCGCACTTGGGGAGCACGGTGGGGAGCACCATATGGAGCGTGGTAGGCCCCCCAGGAAGGAGAAGGCATGGAGAGCAGCCGGTGCTCCCTCCCACACCAGTGACCCACGCGTGGCTTACCTTCGGTGGGAGTTCCTGTTGCTGTTGTCATGCCCGCGCCCCGTGCAGCCCGGAGTGGGGCACTTGAGGACACTTTCATGCATGGCAAGGACTTGACAGGGAGAGGCAAAGAGAACAGCCAGTGTTAAAACAGAGGCACGGTTAGGGCACATGAAAATGCAGTCATTTAACAAAGGCCAGGTCGCTCATGATAGACAGTCCTACAAACGTTTGTGATGGGCATGGCCAGGAAAACACACATGGGAGGAGAAAGAAGGTTGACTGGACCCTACGGACCCTACACGAAAGGCCAGAGAAAGAAGGTTGACTGGACCCTACAGACCCTACATGAAAGGCCAGAGAAAGAAGGTTGACGGGACTCTATGCTAAGGGCCTCACACAGCAGAGGCGCTGGAGCCAGGAGCTGGGGAGTTCAGAGAACACAGAACTGACTCTTTCCTGATGGGCTAGGGGAGCGAGGGCCTCACAGATATTACCCATGCACAAGCATGGAGTATTGATTAGCCATAGAACAACACAGAGGCTGGGGATTTTAAAAACATGCCTGTGCTTTGGAAACACACAGCATTATGAACGTGTGGTGGGTAGATGAATACAGAACCACAAACCTTAATTTTAAATAAAATGAATTAAATAATCACTCTTCCTTTAGGAATCAAGTGCTTTATTATTCTTTAAATAGGATGAGCTAGAAGAGTAAGCGTCTGCGTTTTTACCCTGTGAAATTAACAAGCGGGAGAGGCCTCTTGCATGGACACCTTTTGTGGTGCAAGGATGCTACTGGCTGGTCGGCAGGGGAGAGCTGCTTGAATTTTCCCAGCAGTGGTGTTGGACCTGAATTATTTGTGTCTTCCTTCTTTTCTGGTCCTTCATGAACGCTCTACTACTCTGGGTTCTGGGGGAAGGTTAGCAGGGACGAAGGGACCCCCACACGGACCCTGTCTGCATCATGCTCTGCTCCTCTGAGCCCGCTGTCTCCAAACTCCAGGGGAATGGGGTGGTGGCTTTCCCTGACAGCAAGGTTTACCTGAGGCCAGGTGAACATGGAAGGTCTATTCAAAACAGATCTGCCTACTCTAGTTATGTAATTGTATTTTTGACACTTTTCCTCCTTCTCTAGAACAACCTCTCTCTTTCCCCTGCAGTCTGCTGGGCACTGAATCCCACATCCACATGGTGTTGCTGTTATCTGAGTCCACACCCTGTCTTCTTACTGCTGGGCAGTCCCTTCAGCAGAGTTTGCTTTGGTATTAGCTTTATCGCTCCCACAGTTCCTGGCTTGTCCTGGATGTGGTAGGTCCTAGTAAGTGCTGTCAGAAAAATGAATGATCAAAGTGAGTCCACCTTTGGTTCATCTTGTGCTGGCACCTGGCTGGAGGGGGTCACAGGAGGGTTCCTTTCTGAGAGGATCCAAGCACAGTTCCCTGCCCCCTTCCTCCCTGTCCCAGAGGAAGAAGTGCTGCTCCTCCCTACAGGGAGGCCTCTCCAGGAAGCATGTGCGTGGTCCTCCTTCCTGCAGGATGTCGATCTACCTACTTCGTTCATTCTTTCTTCTTTATCATTTGTCCACCACCGTGTGACAACAGCACACGAATGCTTCTCTTCACACTGCTCCCCTCTGACATGTACCTGCACCTTTCCTTTCCTTTTATGGTAAACTTTTCACATGCAGTCTTCCCTGGGGATGGCACACGGGGGTCACTCTGACCTGAGGTCCAGATGGCAAGTGCACTTTACGCCTCTCTCCTGCTGTGTGGGAATGCACACTCCCAGCCTCGCCCCTGAATCCTCCTGAGGTGGAGTGTGCTTGCTATCCTTGGTCTACACTCTGCTGCTACTTCATCCATCTCAATCACATTTCTCAAACTTCTGCAGCATGTGCAGCTCCTATCCCTCTCTCCTCTTCTCACATCTGTCTCTCGGCGTCAACAAGAGGCTTTTACTCAAGAAACCCTTCCGGGCGTGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTCACCAATATGGTGAAACCCCGTCTCTACTAAA
Task1_train_3104
This variant affects the gene MYT1L (myelin transcription factor 1 like) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Intellectual disability, autosomal dominant 39
AGGGGAAACTAGCCCAGAAAAAAAAAATTAAAAGCCTTCTATGGATGGAATTCTCTAATTGTTTTAGTAAATGCTTGTGGTGTTATAAAGAATCGCACAGGAGCAAAGGCTGAGAAGCCTCCTCTGTATTGTCTGGCATGCACCTGTGCCGCCCATGTCAGAGCTGACTCTCCTTGCCTCCGAGAGCGATCTGGCCCTGGGAGGCACCTGCAGCCGGCGCGAAGGGCACCTTGCCAGTCCCACTCCACAGTCCCACTTCATTTAGGCCTGTCCTGTGAAAACAGGGAGTCAGAAGAATTTCCCATCCATAAAAAGGAGCTGATAATCTACCTTGAAGGTGAAAATGTAGGTCTTATAAAACACATAAAGAAACTCTTTCTTCTTAAAACACTAGAGCTTGGTCCTCCTGCCTCACTTTGCAGATGAGGAAGATGAAGTACAGAGAGCTGCAAGGTGCTGGGTGTCACATCGTGTGTTCAGACAGAAACTGGAACACCAAACCCAGGTTTCAGAGGAGACAGACAGGCTCAGAGGTCAGTCGGATACGGATTTACATCTTAGCCCGGAGCTTACTTGAGTAAGTTAGTACCTGCTCAGATTTGTTTAAGAAGATATGGCATATCCTCAATTTGCCAGGCATTGGCTAACCTCTGGAAAGAAAGGGTGGCAGAGTCTCTGACTCTCATCTTCCTCATCCGAATGAAAGGGGGGGTGTTGCCCTGCAGTGTCGATTGCGGGTTCAGTGAACTTGTGTTTGCTGGGTGTGAGCTGCGTCCCAGCACCAAGTGTGTGCTGGGTACATGGAAGCTGTTGTCAAACCATGCTGTCTTCCTGCTCATGTAACACACGGGATTGGAGCCACTCGCTCTGATTTGTTTATTTTTATGGCTCTTCAGGCTTGTTCACAAGATGGTTACAAAACACACAAGTTTGCTATTTTGAGGAGCCATTTGAAAACCTGGAGCCATAATTGCATCTAAAGATCTTTCACTAGAAAATGTTCAGCAAAAACTTCCTAAGTCCCAAATGCTCCTGAGAACGTTTCTTTGTGCTGACAGGTTTTGCTCTCAAGTATCTCAAAGTTACCCATTTTAATGGGACAGTCCTCAAAAGGGCCTTAAAGTAGTTAACTGGTCATCTTGTCATCTCTCAAGCCATGTTATGACATGTTCCCCACTAGAAACTGTGTCTTAGACAGTAAGGGAAACTCTTCCCATGCCGTAGACTCAAAACCAGAACCTTAAACTCATATACTCATTTCTGAGAATGTGTCTTTTCCCTGAACCATCAATTCTAGCTGCGGTATTTAATTTATTGGCATACTTTATGTGCTGAAAGGATAAACAAAAAAAGATGTATATCATTTCAATTCTAAAAAAATTTAGCTATATTCATGGACTTATTCCACATGATCAGAACCTAATTAATTAAAAAGAATGCTTAAGATCAAAACCCATCTGATTTCAACCTCCTTCCTTATTGAAGAACCTATAGTGTTGAAATGTCGAGACAACTATGACATGAGACAGACTTTACAGGTGAAATGCAATAAAACTTCAGATCTAAATATGCATTTGGATGATGTACAGAAATCCAGATATTTGGGCAAGAAATGTCTGTCTCAAGGCCTCTCTCCTCTGGGATTCCTGGCAGTTTCATGCTGGAAGGGACGTCTTAGAGGCCATCGAATTCAATTCTGTAATTACGAGAAAAGATGCCTGGAAGCAACCTGCCCAAGGTCACAGAGCAGGTCAGAGCTGAACTCAGGACTAGAACCCAGGCCTGTGCAGGAGCTTTGTTAGGGGCGGTGGGCTTCATGGTGCACCACTCTCCTGGGGCTGTGCCATTGGCATGCCCACGAATCCTGGATCAGTTGCCCATCAAGTTAAGTAGGGGCCTAGTTAAATCAGGTCGCACCGAGCCGTACAATGGAGATGATGTCAGGTAAGAGGGATGACAGAGACAGAGTCATGGGTGTTTGCACCCCCAAGGGTAGCGGTGAGACGTGGACTTACTTTCTGGAGGGACCCTATCTTTGTGCGGGCATCCGGACAGGCTGCGGTGATGTGGGTACAGCCCAGTTACGTGGCCGGTTCCATCACACCCGGGGGTTGGACACTTGCTCTCTTTCTTTTCTGTTCTTGAGGGATCTAAAAGCGACAACAGGTGCCAAGAGAATAAATGTTTACCAATCAAAGACAAATGTGATTATTTCACAATCTGAAGAAACCTTGCTAAAGAAAGAAATAAAGCAGGTGTCGGGGGCTAGGCTGTGACATCAGACTTTTGCTTAGATAGTTCTTTGGTTTTGGGTGACTTTTTTCAACCTTACACAGTATAATCATGAATCATAAAGTATTTTAATTTTTATTCTAAAGAAAAGAAAAGCCTACCCCTCACCTTAACTCTGATTCATTATTTTCCCGTGTGTTACATGATAAGCTGTGTTGCTCAAAGGAATCAACGTAAATCGTGATGAGACAGTGACCTTCTTAGAGAACGAAATTCTGTGCCATCATCATTCAGCAATTTTCCATGAAATTCAACCAGAGAGTGTCATTCCATTCAAAAACTCTTTAGCTGAATTTCTTTCTTATTGAGTGCTCTGATCGCATACACTAGAAGCTGCAGGATTTTACTGACATTGAAATTTGCTCTCCGGAGGTCAAGTGACATTGTTTCGTAGCACACCAATTCAGCGCTTTTCTGAAAATAAACTGAACTCTCAGAAGGCACTGTAAGCAAATGACCAAAAAGGTGGAAAGCCCACCTGACAGAGGTGACGGGTAATCAACATGTTTCAGAAGCCACGGGAGCAGCCTTTTGTTTTGATTTCTTCATCTGTACTTGGAACCAGAGGAAGGCTCGTAGAATGCCGTGCATGCATACACAAAATTAAGAAGTAATGGGTTTCTACAGCCCTGTCGGCTTCTCTGCAAGTACCAGTCAAGGGCAAATTAGGGCAGAGCTTCGGTTAAAAAAAAATTCAATACTAGAGGCCAGAAATGTAATGATATTGCTAATAAAATTATTTCTATACCCAGAATTGACTACAGTTCATAAATATGCAATATAATAACTTCAGATAATATTTCTAAAGTAAAGCTCAGACCAAACAGTAAATCTAAGTGTGCAAAACACTGTATTTTTAGCCAGTTTTTGAAAACCAGTTGCTCAGATCACCAACAGATAGCGATTATTATTATTTAGTCCAGAAATGCAATAGTTAAATTTTCTTTAGGGATTAGTTCTTTTTGATATTCCATTAATCAGGCCAATCATGATTGCTAGAAAATACATGTTTTACTTTCAGTTAAGAATTCACTTTATATCAATAAAAGCTGGATTTAGAATTTTTTGAACTTTTACGGACTTTTCATTCGTTCAGGTGAACTTCAAATAGACAAAGGACTAGCAGGAATAGACAAATGCCATCATGTTCATATAAAAACACTCCCCTTTTCTTTTTTAGCTAGCATCTTATTCTGCATAATGTGCCTCTCCTGTACTGGAAACTCTTAAGCCAGCACTGGTGTTGAGGGAAATACCATTTGTACAATCATCCGTTACTTTCCTACCATTATGTCAAGAAGAATCTTTGAGAACAAATCTAAAATTATGTGGTTGTGGCTTCAATTTCTAATTACATTACTGAAACTTCTCTTACACCTGCAAACAAAAATGCCTAGCACTTTATTGCCTTTTCAGTAATTTCATAATAATGTTGGTATAAATTACTGTAGATATAAATCACTACAAATATAAAGTAGTAAGTGCACAGTAACAGTTTCAAAAGAAATACTGACAATCATAAACTTGAGATAAGAGATTTTGAACTAGATGTAAATGGCTAGTGGCTGGTGCAAAAAAGTGTAAGGTGTATCTATTATTCGTCCTTAAGTGACCCTATTTTACCACGACACTTAGGATTACCTAACAAAATATATGACTTCACAGATATCGAAAGTGTTGTGAAATTAAGTAGGGATTTGCATGAAAACAATGTGGCTCCAAAGCATTTTGGGTTTTGGAAGACGACAAGGGTATAGTCTCCTCTCGATGCATGAGGTCCTGGTTGAGGTGGGGTCATGCTATT
AGGGGAAACTAGCCCAGAAAAAAAAAATTAAAAGCCTTCTATGGATGGAATTCTCTAATTGTTTTAGTAAATGCTTGTGGTGTTATAAAGAATCGCACAGGAGCAAAGGCTGAGAAGCCTCCTCTGTATTGTCTGGCATGCACCTGTGCCGCCCATGTCAGAGCTGACTCTCCTTGCCTCCGAGAGCGATCTGGCCCTGGGAGGCACCTGCAGCCGGCGCGAAGGGCACCTTGCCAGTCCCACTCCACAGTCCCACTTCATTTAGGCCTGTCCTGTGAAAACAGGGAGTCAGAAGAATTTCCCATCCATAAAAAGGAGCTGATAATCTACCTTGAAGGTGAAAATGTAGGTCTTATAAAACACATAAAGAAACTCTTTCTTCTTAAAACACTAGAGCTTGGTCCTCCTGCCTCACTTTGCAGATGAGGAAGATGAAGTACAGAGAGCTGCAAGGTGCTGGGTGTCACATCGTGTGTTCAGACAGAAACTGGAACACCAAACCCAGGTTTCAGAGGAGACAGACAGGCTCAGAGGTCAGTCGGATACGGATTTACATCTTAGCCCGGAGCTTACTTGAGTAAGTTAGTACCTGCTCAGATTTGTTTAAGAAGATATGGCATATCCTCAATTTGCCAGGCATTGGCTAACCTCTGGAAAGAAAGGGTGGCAGAGTCTCTGACTCTCATCTTCCTCATCCGAATGAAAGGGGGGGTGTTGCCCTGCAGTGTCGATTGCGGGTTCAGTGAACTTGTGTTTGCTGGGTGTGAGCTGCGTCCCAGCACCAAGTGTGTGCTGGGTACATGGAAGCTGTTGTCAAACCATGCTGTCTTCCTGCTCATGTAACACACGGGATTGGAGCCACTCGCTCTGATTTGTTTATTTTTATGGCTCTTCAGGCTTGTTCACAAGATGGTTACAAAACACACAAGTTTGCTATTTTGAGGAGCCATTTGAAAACCTGGAGCCATAATTGCATCTAAAGATCTTTCACTAGAAAATGTTCAGCAAAAACTTCCTAAGTCCCAAATGCTCCTGAGAACGTTTCTTTGTGCTGACAGGTTTTGCTCTCAAGTATCTCAAAGTTACCCATTTTAATGGGACAGTCCTCAAAAGGGCCTTAAAGTAGTTAACTGGTCATCTTGTCATCTCTCAAGCCATGTTATGACATGTTCCCCACTAGAAACTGTGTCTTAGACAGTAAGGGAAACTCTTCCCATGCCGTAGACTCAAAACCAGAACCTTAAACTCATATACTCATTTCTGAGAATGTGTCTTTTCCCTGAACCATCAATTCTAGCTGCGGTATTTAATTTATTGGCATACTTTATGTGCTGAAAGGATAAACAAAAAAAGATGTATATCATTTCAATTCTAAAAAAATTTAGCTATATTCATGGACTTATTCCACATGATCAGAACCTAATTAATTAAAAAGAATGCTTAAGATCAAAACCCATCTGATTTCAACCTCCTTCCTTATTGAAGAACCTATAGTGTTGAAATGTCGAGACAACTATGACATGAGACAGACTTTACAGGTGAAATGCAATAAAACTTCAGATCTAAATATGCATTTGGATGATGTACAGAAATCCAGATATTTGGGCAAGAAATGTCTGTCTCAAGGCCTCTCTCCTCTGGGATTCCTGGCAGTTTCATGCTGGAAGGGACGTCTTAGAGGCCATCGAATTCAATTCTGTAATTACGAGAAAAGATGCCTGGAAGCAACCTGCCCAAGGTCACAGAGCAGGTCAGAGCTGAACTCAGGACTAGAACCCAGGCCTGTGCAGGAGCTTTGTTAGGGGCGGTGGGCTTCATGGTGCACCACTCTCCTGGGGCTGTGCCATTGGCATGCCCACGAATCCTGGATCAGTTGCCCATCAAGTTAAGTAGGGGCCTAGTTAAATCAGGTCGCACCGAGCCGTACAATGGAGATGATGTCAGGTAAGAGGGATGACAGAGACAGAGTCATGGGTGTTTGCACCCCCAAGGGTAGCGGTGAGACGTGGACTTACTTTCTGGAGGGACCCTATCTTTGTGCGGGCATCTGGACAGGCTGCGGTGATGTGGGTACAGCCCAGTTACGTGGCCGGTTCCATCACACCCGGGGGTTGGACACTTGCTCTCTTTCTTTTCTGTTCTTGAGGGATCTAAAAGCGACAACAGGTGCCAAGAGAATAAATGTTTACCAATCAAAGACAAATGTGATTATTTCACAATCTGAAGAAACCTTGCTAAAGAAAGAAATAAAGCAGGTGTCGGGGGCTAGGCTGTGACATCAGACTTTTGCTTAGATAGTTCTTTGGTTTTGGGTGACTTTTTTCAACCTTACACAGTATAATCATGAATCATAAAGTATTTTAATTTTTATTCTAAAGAAAAGAAAAGCCTACCCCTCACCTTAACTCTGATTCATTATTTTCCCGTGTGTTACATGATAAGCTGTGTTGCTCAAAGGAATCAACGTAAATCGTGATGAGACAGTGACCTTCTTAGAGAACGAAATTCTGTGCCATCATCATTCAGCAATTTTCCATGAAATTCAACCAGAGAGTGTCATTCCATTCAAAAACTCTTTAGCTGAATTTCTTTCTTATTGAGTGCTCTGATCGCATACACTAGAAGCTGCAGGATTTTACTGACATTGAAATTTGCTCTCCGGAGGTCAAGTGACATTGTTTCGTAGCACACCAATTCAGCGCTTTTCTGAAAATAAACTGAACTCTCAGAAGGCACTGTAAGCAAATGACCAAAAAGGTGGAAAGCCCACCTGACAGAGGTGACGGGTAATCAACATGTTTCAGAAGCCACGGGAGCAGCCTTTTGTTTTGATTTCTTCATCTGTACTTGGAACCAGAGGAAGGCTCGTAGAATGCCGTGCATGCATACACAAAATTAAGAAGTAATGGGTTTCTACAGCCCTGTCGGCTTCTCTGCAAGTACCAGTCAAGGGCAAATTAGGGCAGAGCTTCGGTTAAAAAAAAATTCAATACTAGAGGCCAGAAATGTAATGATATTGCTAATAAAATTATTTCTATACCCAGAATTGACTACAGTTCATAAATATGCAATATAATAACTTCAGATAATATTTCTAAAGTAAAGCTCAGACCAAACAGTAAATCTAAGTGTGCAAAACACTGTATTTTTAGCCAGTTTTTGAAAACCAGTTGCTCAGATCACCAACAGATAGCGATTATTATTATTTAGTCCAGAAATGCAATAGTTAAATTTTCTTTAGGGATTAGTTCTTTTTGATATTCCATTAATCAGGCCAATCATGATTGCTAGAAAATACATGTTTTACTTTCAGTTAAGAATTCACTTTATATCAATAAAAGCTGGATTTAGAATTTTTTGAACTTTTACGGACTTTTCATTCGTTCAGGTGAACTTCAAATAGACAAAGGACTAGCAGGAATAGACAAATGCCATCATGTTCATATAAAAACACTCCCCTTTTCTTTTTTAGCTAGCATCTTATTCTGCATAATGTGCCTCTCCTGTACTGGAAACTCTTAAGCCAGCACTGGTGTTGAGGGAAATACCATTTGTACAATCATCCGTTACTTTCCTACCATTATGTCAAGAAGAATCTTTGAGAACAAATCTAAAATTATGTGGTTGTGGCTTCAATTTCTAATTACATTACTGAAACTTCTCTTACACCTGCAAACAAAAATGCCTAGCACTTTATTGCCTTTTCAGTAATTTCATAATAATGTTGGTATAAATTACTGTAGATATAAATCACTACAAATATAAAGTAGTAAGTGCACAGTAACAGTTTCAAAAGAAATACTGACAATCATAAACTTGAGATAAGAGATTTTGAACTAGATGTAAATGGCTAGTGGCTGGTGCAAAAAAGTGTAAGGTGTATCTATTATTCGTCCTTAAGTGACCCTATTTTACCACGACACTTAGGATTACCTAACAAAATATATGACTTCACAGATATCGAAAGTGTTGTGAAATTAAGTAGGGATTTGCATGAAAACAATGTGGCTCCAAAGCATTTTGGGTTTTGGAAGACGACAAGGGTATAGTCTCCTCTCGATGCATGAGGTCCTGGTTGAGGTGGGGTCATGCTATT
Task1_train_3105
With a mutation on Chromosome 2 in gene RNASEH1 (ribonuclease H1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
GGCTGAGGCACGAGAATCACTTGAACCCAGAAGGCAGAGGTTGCAATGAGATCACGCCATAGCCTGGGGTGACAGAGTGAGACCTGTCTCAAAAACCAAACCAAAAAACTGTATTACTTGTATGATAAGGAAAATAATCAAATTTGTGTATGTGGGTGGGTTTGTTTTGTTTTTCTGAGACAGGGTCTCACTCTGTCGCCCAGGCTAGAGTACAGTGGTACAATCTTGGCTCACTGCAACCTCGACCTCCCCAGCTCAAGTCATCCTCCCACCTCAGTGTCCTGAGTAACTAGACTACAGGCATGTGCCACTACCCCTGGCTAATTTTTTATTTTTTCGAGAAACAGAGTCTCCCCATGTTATCCAGGCTGGTCTCGAACTTCTTGGCTTAAGTAGTCAGGCCATTTGGGCCTCCTAAAGTGCTGGGTTACAGATGTGAACCACTGAGCCCAGGCTCACATATTTTTTTTTTTTTTTTGAGACGGGGTCTTGGAGTCTCATATCGTTGCTCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACTTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCATGCCCGGCTAATTTTTGTATTTTTTAATAAAGATGGGGTTTCACCATACTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTACGCCCAGCCTCAAATACGTTGTAATATACATTATGATATTAATATCATGGAAATTGTTATGTCATTAAACCACTTACATAAACCATTAATCTCTAGTAAACTTAGCTTATTTGGTCATAATGGCCATAGGACATGAACATTTAAGATACTCACCCACTGAATGTCCATCCCCTGGGTAAGCCTCTCCAGTGCCACAAAGTCCTCTTTGTTGATCACCTCTTTCCCTGCACTTGTCTTCCACCCATTTTTCTTCCAACCTTGAACCCAGTTAGTTATACCTACAAAAATGCACGATCACTGGTGAGTCAATCTTGAGTGTCCTGCCTTTTTCACCTCCTTAGTCTTACCTCTTATAATTGATCCCACTTGTATTCTGAGTCACCATCCTTGACTCTTCACTTCCTTAGCTGGCCTTAGTTGCTTTGGCCTTTGGCACAGCCTGAAATACCCTCCTCTCTTCCCTTTCCCCTAACTTGTATTCTACCTACAGCTGTCAGCTTAAGATGTCATTTCTCCCAGGAGCCTTCCCCAGCCTCGTAAGCATCCCCTACATGCTCCTATTCAGGGCATTTCCCAAAGAAGCAGTCAACACGCCATCTTAAGTGACTTATACACACACAGACTAGAAGTAAGAGCCACTTCCACTTCTGACTGCATCTCCAGTGCCTGGCAAAGAAATAAGCATGTGGAAAACATCAGAGCAGCAGAAGGGAGACTCCAAAATCCTCACTCTTTGCTCGGTACCTGACAAACCAATGTCATCCCCCCGTTCCCATTTGGGTCCTGCCCTGTTACAACACCTCCTACCAATTTCCCTTCACAGTTACTGGAAAAACAGAAGAAATCAAATGTGAAAGCTTACCATTTATCGTAAACATACTGTCTGTATACAGAACCAGTTTATTGATGTTTTGAGTCTTTGCTTGTTCAATGGCTTTGCAGGCTGCCTTGAAAAGACAAGTCGATAGTCATGCTACAGAAAATGTTCAACTCTGACATTACTAAAGTTCAAAAGTACTTCGAAATTGAAACATCCCCTCTGTACTGATTATATTCTCTGTATGAAACACTACTATACATACAATTCTCCTGTGTAGACATCTATTTGAAATAAGTTTTTAGAATTTTTCTACAAAATTCCTATTTTTCAAAATTGTTATTAAACCCGTCTCTCTTCAAATATCTTATATGTATAGGTAGAAAAAAAAAGAATTAGTTTATTTGATAATTTCATACTCAATGCTCAAAAAAGAGAGGCTTAAACGTATCTGATAACTTACATGAATTTCCGCTCTTTGGTTTGTCTGCCGCCCAGGAAGTCTAATGCCTACATTTCTGTTTCAAAACAGTACAAAAGAAAATAAAAGTATAAAGTGAATTCTCAAAGTGATTCTTCTTAATGGATAACGATAAACTAGTGTGTATTCTTATTTGAAATATAAAAGCATCATATAAAAATCAAACTAACAGACTCCCAGCAGAGAGCAGCACACAGGTTTCCACACTTGGGCACCTTCTGACTCTCATGGGTTCCACTAGGGCAAAGGAAGTAAAAGCTGGTTCTCTGCGGACCCTGGGTTAGGCCCTATGGCTGCAGCAGAAAGAATCCCAGGAGAAAACTCGGGAAGAAGAATGGAGAGAGTGAGACTTCAGATTGAAACTACTAAAAACCTCCAGGAAGTAAAAGAGGAAAATGAAATCAAGGAACCAGAAAAACCCTTAGACAAGTTATTTAAAATTTGGGGTCACCAGGAGATCCAGAGTTTCCTAAAAGAATGAGCAATTTTTGGGCCAGGGGTGGTGGCTCACACCTGTGATCTCGGCACTTTGGGAGGACAAGGTGGGAGGATCGCATGAGCCCAGAAATTTGAGCCCAGCCTGGGCAACATAGTGAGACTTCATCTCTACTGAAAAAAGGACTCCTCTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCCTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGGTGAGGAAGGAGAATGGCGTGAACCTGGGAAGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCGATAGAGTGAGACTCCGTCTCAGGAAAAAAAAAAAAAAAGACTCCTCCCCAGGGCAAGAAAGAAACACCAAAGCCAGGTGCAGTGGCTCACACCCATAATCCCAACAGTTTGGGAGGCCAAGGTGGGAGGATCGCTTGAGCCCAGAAGGTGAAGTCTGCAGTGAGCTGTGTTTGTGCCACTGTACTCCATCCTGGGCAACAGTGTGAGACCGTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAGGAAGTAAAGCTGAGGTACCTCACGTTCTGAAAAGCAATGCCGCTTAGCCCCAACACGAACCAAAGCTGCTCCTCTGCCACCCCTGCCAGAGCTACTTATCTGCAGGTTTTCCCAATAATCAAACAATGAGCAGATCCCGCCTCATCTTTTCACAAGTTGTGGAACATGATTCAGTAAAACTCAGCTTCGTTTAACTTACAAAGGATGGCCTGGCCCCCAGTAAACGCCGATTCCTGCTCGCGGCCTTCTACGCCCATTACTGGAGCAGCAGCCATCAGTGTAGACGACGACGAAGTCTCCTGTGGGAAAAGGAAGTACATGCTGCTGGGCTGACCTTACTAAAAACTGAAATTCACCTCAAAAATCCACTAGGTCGACTTAGCATTTTAAACCGAGAGGGTATTTTACAACGCTGCAGACGTTTTCTCTCTAGGAAAACATGCTCCATTCCTTACAAGGGGGCACCTAACATTTATGCTTGGAATCCACTTACATTTTGATCTTGCAGGCCAGGCAAGTTCGGGGTGAAGGCAATCACCTTGTAAAACTAGAGCCTGCTGCAGTAAAAACTACTGTTCACATCCCACACTGTGGGTTCAGAGGACAATGGCGCTGTCTCCACGGCAGGGTCACCTTCACTCCCAGGGAGCCATCCTCCAGAGACGAGCAGCGCCTCAGCATGACGGTGACCCTGCCTGCCAGAGGGCCCAGTCTCCTGACCAGTGCTGGTCTAATTTCTTCCCTGGCATATTTGCTGCTAGTTAAGTGTGGTTCCCGTCTTTGCTTCTTTCCCTCTAGATAGAGGGTATGATTGACACACAAAGGCTGTAAAGAACAAGGTAAAAAAGGACTGACGGGGGCATTCTCAGGCCACTGGTGACCAGGACACTTCAGTAGTGTGGTGGGATCAGAGGTCAGGTTGCACAGTGTTAAAAGAGCTGG
GGCTGAGGCACGAGAATCACTTGAACCCAGAAGGCAGAGGTTGCAATGAGATCACGCCATAGCCTGGGGTGACAGAGTGAGACCTGTCTCAAAAACCAAACCAAAAAACTGTATTACTTGTATGATAAGGAAAATAATCAAATTTGTGTATGTGGGTGGGTTTGTTTTGTTTTTCTGAGACAGGGTCTCACTCTGTCGCCCAGGCTAGAGTACAGTGGTACAATCTTGGCTCACTGCAACCTCGACCTCCCCAGCTCAAGTCATCCTCCCACCTCAGTGTCCTGAGTAACTAGACTACAGGCATGTGCCACTACCCCTGGCTAATTTTTTATTTTTTCGAGAAACAGAGTCTCCCCATGTTATCCAGGCTGGTCTCGAACTTCTTGGCTTAAGTAGTCAGGCCATTTGGGCCTCCTAAAGTGCTGGGTTACAGATGTGAACCACTGAGCCCAGGCTCACATATTTTTTTTTTTTTTTTGAGACGGGGTCTTGGAGTCTCATATCGTTGCTCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACTTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCATGCCCGGCTAATTTTTGTATTTTTTAATAAAGATGGGGTTTCACCATACTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTACGCCCAGCCTCAAATACGTTGTAATATACATTATGATATTAATATCATGGAAATTGTTATGTCATTAAACCACTTACATAAACCATTAATCTCTAGTAAACTTAGCTTATTTGGTCATAATGGCCATAGGACATGAACATTTAAGATACTCACCCACTGAATGTCCATCCCCTGGGTAAGCCTCTCCAGTGCCACAAAGTCCTCTTTGTTGATCACCTCTTTCCCTGCACTTGTCTTCCACCCATTTTTCTTCCAACCTTGAACCCAGTTAGTTATACCTACAAAAATGCACGATCACTGGTGAGTCAATCTTGAGTGTCCTGCCTTTTTCACCTCCTTAGTCTTACCTCTTATAATTGATCCCACTTGTATTCTGAGTCACCATCCTTGACTCTTCACTTCCTTAGCTGGCCTTAGTTGCTTTGGCCTTTGGCACAGCCTGAAATACCCTCCTCTCTTCCCTTTCCCCTAACTTGTATTCTACCTACAGCTGTCAGCTTAAGATGTCATTTCTCCCAGGAGCCTTCCCCAGCCTCGTAAGCATCCCCTACATGCTCCTATTCAGGGCATTTCCCAAAGAAGCAGTCAACACGCCATCTTAAGTGACTTATACACACACAGACTAGAAGTAAGAGCCACTTCCACTTCTGACTGCATCTCCAGTGCCTGGCAAAGAAATAAGCATGTGGAAAACATCAGAGCAGCAGAAGGGAGACTCCAAAATCCTCACTCTTTGCTCGGTACCTGACAAACCAATGTCATCCCCCCGTTCCCATTTGGGTCCTGCCCTGTTACAACACCTCCTACCAATTTCCCTTCACAGTTACTGGAAAAACAGAAGAAATCAAATGTGAAAGCTTACCATTTATCGTAAACATACTGTCTGTATACAGAACCAGTTTATTGATGTTTTGAGTCTTTGCTTGTTCAATGGCTTTGCAGGCTGCCTTGAAAAGACAAGTCGATAGTCATGCTACAGAAAATGTTCAACTCTGACATTACTAAAGTTCAAAAGTACTTCGAAATTGAAACATCCCCTCTGTACTGATTATATTCTCTGTATGAAACACTACTATACATACAATTCTCCTGTGTAGACATCTATTTGAAATAAGTTTTTAGAATTTTTCTACAAAATTCCTATTTTTCAAAATTGTTATTAAACCCGTCTCTCTTCAAATATCTTATATGTATAGGTAGAAAAAAAAAGAATTAGTTTATTTGATAATTTCATACTCAATGCTCAAAAAAGAGAGGCTTAAACGTATCTGATAACTTACATGAATTTCCACTCTTTGGTTTGTCTGCCGCCCAGGAAGTCTAATGCCTACATTTCTGTTTCAAAACAGTACAAAAGAAAATAAAAGTATAAAGTGAATTCTCAAAGTGATTCTTCTTAATGGATAACGATAAACTAGTGTGTATTCTTATTTGAAATATAAAAGCATCATATAAAAATCAAACTAACAGACTCCCAGCAGAGAGCAGCACACAGGTTTCCACACTTGGGCACCTTCTGACTCTCATGGGTTCCACTAGGGCAAAGGAAGTAAAAGCTGGTTCTCTGCGGACCCTGGGTTAGGCCCTATGGCTGCAGCAGAAAGAATCCCAGGAGAAAACTCGGGAAGAAGAATGGAGAGAGTGAGACTTCAGATTGAAACTACTAAAAACCTCCAGGAAGTAAAAGAGGAAAATGAAATCAAGGAACCAGAAAAACCCTTAGACAAGTTATTTAAAATTTGGGGTCACCAGGAGATCCAGAGTTTCCTAAAAGAATGAGCAATTTTTGGGCCAGGGGTGGTGGCTCACACCTGTGATCTCGGCACTTTGGGAGGACAAGGTGGGAGGATCGCATGAGCCCAGAAATTTGAGCCCAGCCTGGGCAACATAGTGAGACTTCATCTCTACTGAAAAAAGGACTCCTCTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCCTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGGTGAGGAAGGAGAATGGCGTGAACCTGGGAAGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCGATAGAGTGAGACTCCGTCTCAGGAAAAAAAAAAAAAAAGACTCCTCCCCAGGGCAAGAAAGAAACACCAAAGCCAGGTGCAGTGGCTCACACCCATAATCCCAACAGTTTGGGAGGCCAAGGTGGGAGGATCGCTTGAGCCCAGAAGGTGAAGTCTGCAGTGAGCTGTGTTTGTGCCACTGTACTCCATCCTGGGCAACAGTGTGAGACCGTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAGGAAGTAAAGCTGAGGTACCTCACGTTCTGAAAAGCAATGCCGCTTAGCCCCAACACGAACCAAAGCTGCTCCTCTGCCACCCCTGCCAGAGCTACTTATCTGCAGGTTTTCCCAATAATCAAACAATGAGCAGATCCCGCCTCATCTTTTCACAAGTTGTGGAACATGATTCAGTAAAACTCAGCTTCGTTTAACTTACAAAGGATGGCCTGGCCCCCAGTAAACGCCGATTCCTGCTCGCGGCCTTCTACGCCCATTACTGGAGCAGCAGCCATCAGTGTAGACGACGACGAAGTCTCCTGTGGGAAAAGGAAGTACATGCTGCTGGGCTGACCTTACTAAAAACTGAAATTCACCTCAAAAATCCACTAGGTCGACTTAGCATTTTAAACCGAGAGGGTATTTTACAACGCTGCAGACGTTTTCTCTCTAGGAAAACATGCTCCATTCCTTACAAGGGGGCACCTAACATTTATGCTTGGAATCCACTTACATTTTGATCTTGCAGGCCAGGCAAGTTCGGGGTGAAGGCAATCACCTTGTAAAACTAGAGCCTGCTGCAGTAAAAACTACTGTTCACATCCCACACTGTGGGTTCAGAGGACAATGGCGCTGTCTCCACGGCAGGGTCACCTTCACTCCCAGGGAGCCATCCTCCAGAGACGAGCAGCGCCTCAGCATGACGGTGACCCTGCCTGCCAGAGGGCCCAGTCTCCTGACCAGTGCTGGTCTAATTTCTTCCCTGGCATATTTGCTGCTAGTTAAGTGTGGTTCCCGTCTTTGCTTCTTTCCCTCTAGATAGAGGGTATGATTGACACACAAAGGCTGTAAAGAACAAGGTAAAAAAGGACTGACGGGGGCATTCTCAGGCCACTGGTGACCAGGACACTTCAGTAGTGTGGTGGGATCAGAGGTCAGGTTGCACAGTGTTAAAAGAGCTGG
Task1_train_3106
The gene COLEC11 (collectin subfamily member 11) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; 3MC syndrome 2
GGCTCTACGTGATTGCCGACGTCCAGAAAGAGGGATTGAACTTCTACAGGATATGCCAGACTGCAGGGTGGGCTGAGACTCTGCCCAGTGGAAACTGTGGGAAAAGGCGTAAAGCCCACCCGCACACCGCAGCGATGGGGGTGGATGGTGAGGTGCTGGGCAGGCCCAGGCTCCGATCCTGGGGACAGGCAGAGGCTGCTGGGCCACGGGGAGCCCCGGCACCACGGAGGCGATGACCAGGTGTCACTCTTCACAGGAAGAAGGTTAGGGTCCGTCCAGGGACTAGGAACAAACTCGCAGCCGGAGGGAATCGGTTGGCAGAACTGGGAGGGCGGAGTGTAGCTCAGTTGATTAGCGAGAGAAGACTTAGGACAGCTGCGTGTTCTGGACACCGTGCCGTCTGCGAGGCATCAGAGGGACTTCCCGCCTAGCCACAGGGGCACAGATACTCGATTTTGGAGCCCAGACTGTCTGCCTGGGCCCAGATCTCAGGCTCTCCATGCCCCGTGGCTCTCAGTGATGTCAGATGTGATGCAGGGATAGGAGCAGCACGCGTGTGGTCACAGGCGTATGGGAACGGAATGAGCTCATTGAGAATGAGATCTGTTGCCAGAAAGGCCTGTGAGGTGTTCCCTGTTATTTCAGTGTGGGAGGTGGCTTCCCACCATGGCTCTGCGTCCCACCCATGTCCCTCTCATCAGGCCACTTGTGTTGCTCACTCTTGTGTGTCAGGACAGACACCGGCTTCATCCCTCCCTCCCTATCAGCTCCCTTTCACCACCGTTTCAATATATGCAAGCAATTCTTGTCTTAAAGCAAAACGACTGCAAAGCCGCAGAGCTCCTCTCTAGCGGCCTCACGTGTGCAGCTCCCCAGAGTTCTGTACCCCGGGCCCCTGTCTTTCCCTCCACATTCCTGCCGCATCATCCAGCTGGGACAGCCCTTGATCGCTAGGTGGTGGGTCTGAGGGCCGCTCCAGCCATCCTCCCACCAGACCATGGCAGCACCTGTCCTGTGGGCGCGGCCTGCCTTCCTCACTTCCTCCCAGGCCTCACCCACGGCCTGCAGGTGCTCCTGGTGATGCTGCTCTGTCCTCCCTCCCTGAGCCGTCCCTCACGCCCTGTGTGTGCCCACGATGCCCAGCTCTGCCCTGGCCCCCACTCCCCACCTGACATGTCACAGGCACCTGAGTGTTGGCAGATTCCACCTCCTTTGCCCAGCCAGCAATGGAATGGCCCCACCACCTCTTCCATTCCTGACAGACGCCACTGCGCCCTTCAGCTCCCCTCAGCCCTGCAGTGCCCCCAAGCCATGGAGGCCTGCTGGCCATCCCCACCATCTTCCTCAGATGTTCTAGCTTTTCTCACTGCACGCCCTCAGCCAGACCTGCTTCCCTGGTTCCCAACCCTGCCCTGGGCTGCTTCCCACCCCTGCACCTCCATTTCTCTTCCCCCTACAGCTGGAGAGGTTTGAAATACATGTGTCTGCCCTCCCTCCACTCCTGTGGAGGTCCTTCCCTGCTCCCCCTGCCTTTAGGATGAAGTGGGTGATGGTTATTGCGGCCTCAAAGGCCCGTGGGGCACGTTTGTTGAGTAAAATGTGCATTTCCGGGGAGGGGTCCTCGCCTCTCTTCTGAGTCCGAGTCCTCATCCAGCGTTTGTAACGCGTGGGCCTGGCCCCCGCAGGCCTCCCATGTGAGTGCAGCCAGCTGCGCAAGGCCATCGGGGAGATGGACAACCAGGTCTCTCAGCTGACCAGCGAGCTCAAGTTCATCAAGAATGGTATGTGGCTCCCGGCGCCGCCCTCGCTCCCTCCCACCTCCCAGCCCTGTCCTGAGCCCCCCGGCAAGGGCTCTGCCGTGCCCACGCCTGCCCTGCCTGCCCTGCCGGCCCCTGCTGCCTGTGGCTGTGCCTTAAGTTTGTTGCACACATACAAGTGCTCACTTTTCAACCCTGCCTTACCCCACAGCTGTCGCCGGTGTGCGCGAGACGGAGAGCAAGATCTACCTGCTGGTGAAGGAGGAGAAGCGCTACGCGGACGCCCAGCTGTCCTGCCAGGGCCGCGGGGGCACGCTGAGCATGCCCAAGGACGAGGCTGCCAATGGCCTGATGGCCGCATACCTGGCGCAAGCCGGCCTGGCCCGTGTCTTCATCGGCATCAACGACCTGGAGAAGGAGGGCGCCTTCGTGTACTCTGACCACTCCCCCATGCGGACCTTCAACAAGTGGCGCAGCGGTGAGCCCAACAATGCCTACGACGAGGAGGACTGCGTGGAGATGGTGGCCTCGGGCGGCTGGAACGACGTGGCCTGCCACACCACCATGTACTTCATGTGTGAGTTTGACAAGGAGAACATGTGAGCCTCAGGCTGGGGCTGCCCATTGGGGGCCCCACATGTCCCTGCAGGGTTGGCAGGGACAGAGCCCAGACCATGGTGCCAGCCAGGGAGCTGTCCCTCTGTGAAGGGTGGAGGCTCACTGAGTAGAGGGCTGTTGTCTAAACTGAGAAAATGGCCTATGCTTAAGAGGAAAATGAAAGTGTTCCTGGGGTGCTGTCTCTGAAGAAGCAGAGTTTCATTACCTGTATTGTAGCCCCAATGTCATTATGTAATTATTACCCAGAATTGCTCTTCCATAAAGCTTGTGCCTTTGTCCAAGCTATACAATAAAATCTTTAAGTAGTGCAGTAGTTAAGTCCAAATAGTGGCAATGGGGTCTTGAATTACTACCTTTTAATTTCTATATGGAAAAGAACTCACTTTGACCAACACTTCTGTAAATTACATTACAATATAGGTTCCTTCACACTATTATCCATGTAAAAACAATTTTGCTTTGCTTCAAACCCAGATTTCAGGAAAACAACAACAAAATTCTCCAAACTTTACTACTAAATGTGTGGAGTCATTTTGTTCTCTTAATTTTTTCAATAGCTGTATTAGTTATCTTTTATTTTAATTAACTTTTGTAGAGGTGAGGTCTTGCTATGTGGCCCAGGCTGGCCTTGAACTCCTGGGCTCAAGCGATCCTCCCACCTCTCCTGAATAGCTGGGACTGCAGGCAGGAGCCACCACACCCGGCTTGTATGAGTTATTTATTGCTGCCTAACAAATTACCCCAAAACTCAGTGGCCTAAGAAAGATTGATTACCTCCCAGATCAGGAATCGGCACAGGGCTTAGCTCAGTCTTCTACTTCAGGGCCTCTCCCAAGCTGGAACCAAGGTCACTCCTCGTGTGGTTTGTGCAGAGCTCAGGTCCTCCTGGGTTGTTGGATGGAGGGCCTCAGTTTCCCACCAGCTGTGGGTCACAGGCTCCCGCAGTTCCCTGTCACAGGGGCCCTTCCCCTGGGCTGCCCACAACATGACAGCACCTTCCTCAGAGCAGCCCAGGAGAAGAGCCGAAGAGAGAAGCCGCAGCCTTTCCTAAGCTCACCTGGACATATCCTGCTGTCTGCATCCATTTGCGTTGCCACAAAGGAAAACCCGAGGCTGGGCAACAGATCAACAAAGAGGTTTATTTGGCTCACGGTTCTGCAGGCAGCACCAGAAGCGTGGTGCCAGCATCTGCTCCTGGTGAGGCCTCAGGCTGCGTCCACTCTCAAGTGGAGGGGGAGGGAGAGCCGGCACTCACAGAGATCACATGGGGAGAGGGAAGCCACGAAGAAAGAGAGGGAGGTGCCGGGCTGTTCTGCATAATCAATCAGCTTAGGGAACTAGCAGAGTGAGAACTTGCTCACTAGGGTAAGGACTGAGGACAGCACCCAAGATACTCATGAGGGTTCCGCTCCCGACCCAAACACCTATTTGGCCCCACCTCCACCATGAGGGTCACATTTCAACATGAGATCTGGAGAGGCCCAACAGCAAACCACAGCACGTGCCTTCCCTCTGTGGTGCTCTACCAGCTTGAGGCGAGGCACCGGGTGCAGCCCATACATGGGGGTGAATACCAGGGGGTGGGGACCACTGGGGGTCAGTTCAGAAGCTGCCTGCCACAGTACCTCATGGTTTTTTTTTTTTTGTATTTCAGAATCCCAATAAAAATAACAAGTATCTTCATTTTTAAAATAGAACACACGTACATGTACATTCCCTCC
GGCTCTACGTGATTGCCGACGTCCAGAAAGAGGGATTGAACTTCTACAGGATATGCCAGACTGCAGGGTGGGCTGAGACTCTGCCCAGTGGAAACTGTGGGAAAAGGCGTAAAGCCCACCCGCACACCGCAGCGATGGGGGTGGATGGTGAGGTGCTGGGCAGGCCCAGGCTCCGATCCTGGGGACAGGCAGAGGCTGCTGGGCCACGGGGAGCCCCGGCACCACGGAGGCGATGACCAGGTGTCACTCTTCACAGGAAGAAGGTTAGGGTCCGTCCAGGGACTAGGAACAAACTCGCAGCCGGAGGGAATCGGTTGGCAGAACTGGGAGGGCGGAGTGTAGCTCAGTTGATTAGCGAGAGAAGACTTAGGACAGCTGCGTGTTCTGGACACCGTGCCGTCTGCGAGGCATCAGAGGGACTTCCCGCCTAGCCACAGGGGCACAGATACTCGATTTTGGAGCCCAGACTGTCTGCCTGGGCCCAGATCTCAGGCTCTCCATGCCCCGTGGCTCTCAGTGATGTCAGATGTGATGCAGGGATAGGAGCAGCACGCGTGTGGTCACAGGCGTATGGGAACGGAATGAGCTCATTGAGAATGAGATCTGTTGCCAGAAAGGCCTGTGAGGTGTTCCCTGTTATTTCAGTGTGGGAGGTGGCTTCCCACCATGGCTCTGCGTCCCACCCATGTCCCTCTCATCAGGCCACTTGTGTTGCTCACTCTTGTGTGTCAGGACAGACACCGGCTTCATCCCTCCCTCCCTATCAGCTCCCTTTCACCACCGTTTCAATATATGCAAGCAATTCTTGTCTTAAAGCAAAACGACTGCAAAGCCGCAGAGCTCCTCTCTAGCGGCCTCACGTGTGCAGCTCCCCAGAGTTCTGTACCCCGGGCCCCTGTCTTTCCCTCCACATTCCTGCCGCATCATCCAGCTGGGACAGCCCTTGATCGCTAGGTGGTGGGTCTGAGGGCCGCTCCAGCCATCCTCCCACCAGACCATGGCAGCACCTGTCCTGTGGGCGCGGCCTGCCTTCCTCACTTCCTCCCAGGCCTCACCCACGGCCTGCAGGTGCTCCTGGTGATGCTGCTCTGTCCTCCCTCCCTGAGCCGTCCCTCACGCCCTGTGTGTGCCCACGATGCCCAGCTCTGCCCTGGCCCCCACTCCCCACCTGACATGTCACAGGCACCTGAGTGTTGGCAGATTCCACCTCCTTTGCCCAGCCAGCAATGGAATGGCCCCACCACCTCTTCCATTCCTGACAGACGCCACTGCGCCCTTCAGCTCCCCTCAGCCCTGCAGTGCCCCCAAGCCATGGAGGCCTGCTGGCCATCCCCACCATCTTCCTCAGATGTTCTAGCTTTTCTCACTGCACGCCCTCAGCCAGACCTGCTTCCCTGGTTCCCAACCCTGCCCTGGGCTGCTTCCCACCCCTGCACCTCCATTTCTCTTCCCCCTACAGCTGGAGAGGTTTGAAATACATGTGTCTGCCCTCCCTCCACTCCTGTGGAGGTCCTTCCCTGCTCCCCCTGCCTTTAGGATGAAGTGGGTGATGGTTATTGCGGCCTCAAAGGCCCGTGGGGCACGTTTGTTGAGTAAAATGTGCATTTCCGGGGAGGGGTCCTCGCCTCTCTTCTGAGTCCGAGTCCTCATCCAGCGTTTGTAACGCGTGGGCCTGGCCCCCGCAGGCCTCCCATGTGAGTGCAGCCAGCTGCGCAAGGCCATCGGGGAGATGGACAACCAGGTCTCTCAGCTGACCAGCGAGCTCAAGTTCATCAAGAATGGTATGTGGCTCCCGGCGCCGCCCTCGCTCCCTCCCACCTCCCAGCCCTGTCCTGAGCCCCCCGGCAAGGGCTCTGCCGTGCCCACGCCTGCCCTGCCTGCCCTGCCGGCCCCTGCTGCCTGTGGCTGTGCCTTAAGTTTGTTGCACACATACAAGTGCTCACTTTTCAACCCTGCCTTACCCCACAGCTGTCGCCGGTGTGCGCGAGACGGAGAGCAAGATCTACCTGCTGGTGAAGGAGGAGAAGCGCTACGCGGACGCCCAGCTGCCCTGCCAGGGCCGCGGGGGCACGCTGAGCATGCCCAAGGACGAGGCTGCCAATGGCCTGATGGCCGCATACCTGGCGCAAGCCGGCCTGGCCCGTGTCTTCATCGGCATCAACGACCTGGAGAAGGAGGGCGCCTTCGTGTACTCTGACCACTCCCCCATGCGGACCTTCAACAAGTGGCGCAGCGGTGAGCCCAACAATGCCTACGACGAGGAGGACTGCGTGGAGATGGTGGCCTCGGGCGGCTGGAACGACGTGGCCTGCCACACCACCATGTACTTCATGTGTGAGTTTGACAAGGAGAACATGTGAGCCTCAGGCTGGGGCTGCCCATTGGGGGCCCCACATGTCCCTGCAGGGTTGGCAGGGACAGAGCCCAGACCATGGTGCCAGCCAGGGAGCTGTCCCTCTGTGAAGGGTGGAGGCTCACTGAGTAGAGGGCTGTTGTCTAAACTGAGAAAATGGCCTATGCTTAAGAGGAAAATGAAAGTGTTCCTGGGGTGCTGTCTCTGAAGAAGCAGAGTTTCATTACCTGTATTGTAGCCCCAATGTCATTATGTAATTATTACCCAGAATTGCTCTTCCATAAAGCTTGTGCCTTTGTCCAAGCTATACAATAAAATCTTTAAGTAGTGCAGTAGTTAAGTCCAAATAGTGGCAATGGGGTCTTGAATTACTACCTTTTAATTTCTATATGGAAAAGAACTCACTTTGACCAACACTTCTGTAAATTACATTACAATATAGGTTCCTTCACACTATTATCCATGTAAAAACAATTTTGCTTTGCTTCAAACCCAGATTTCAGGAAAACAACAACAAAATTCTCCAAACTTTACTACTAAATGTGTGGAGTCATTTTGTTCTCTTAATTTTTTCAATAGCTGTATTAGTTATCTTTTATTTTAATTAACTTTTGTAGAGGTGAGGTCTTGCTATGTGGCCCAGGCTGGCCTTGAACTCCTGGGCTCAAGCGATCCTCCCACCTCTCCTGAATAGCTGGGACTGCAGGCAGGAGCCACCACACCCGGCTTGTATGAGTTATTTATTGCTGCCTAACAAATTACCCCAAAACTCAGTGGCCTAAGAAAGATTGATTACCTCCCAGATCAGGAATCGGCACAGGGCTTAGCTCAGTCTTCTACTTCAGGGCCTCTCCCAAGCTGGAACCAAGGTCACTCCTCGTGTGGTTTGTGCAGAGCTCAGGTCCTCCTGGGTTGTTGGATGGAGGGCCTCAGTTTCCCACCAGCTGTGGGTCACAGGCTCCCGCAGTTCCCTGTCACAGGGGCCCTTCCCCTGGGCTGCCCACAACATGACAGCACCTTCCTCAGAGCAGCCCAGGAGAAGAGCCGAAGAGAGAAGCCGCAGCCTTTCCTAAGCTCACCTGGACATATCCTGCTGTCTGCATCCATTTGCGTTGCCACAAAGGAAAACCCGAGGCTGGGCAACAGATCAACAAAGAGGTTTATTTGGCTCACGGTTCTGCAGGCAGCACCAGAAGCGTGGTGCCAGCATCTGCTCCTGGTGAGGCCTCAGGCTGCGTCCACTCTCAAGTGGAGGGGGAGGGAGAGCCGGCACTCACAGAGATCACATGGGGAGAGGGAAGCCACGAAGAAAGAGAGGGAGGTGCCGGGCTGTTCTGCATAATCAATCAGCTTAGGGAACTAGCAGAGTGAGAACTTGCTCACTAGGGTAAGGACTGAGGACAGCACCCAAGATACTCATGAGGGTTCCGCTCCCGACCCAAACACCTATTTGGCCCCACCTCCACCATGAGGGTCACATTTCAACATGAGATCTGGAGAGGCCCAACAGCAAACCACAGCACGTGCCTTCCCTCTGTGGTGCTCTACCAGCTTGAGGCGAGGCACCGGGTGCAGCCCATACATGGGGGTGAATACCAGGGGGTGGGGACCACTGGGGGTCAGTTCAGAAGCTGCCTGCCACAGTACCTCATGGTTTTTTTTTTTTTGTATTTCAGAATCCCAATAAAAATAACAAGTATCTTCATTTTTAAAATAGAACACACGTACATGTACATTCCCTCC
Task1_train_3107
A variant was discovered on Chromosome 2, affecting COLEC11 (collectin subfamily member 11). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; not provided
GGCGTAAAGCCCACCCGCACACCGCAGCGATGGGGGTGGATGGTGAGGTGCTGGGCAGGCCCAGGCTCCGATCCTGGGGACAGGCAGAGGCTGCTGGGCCACGGGGAGCCCCGGCACCACGGAGGCGATGACCAGGTGTCACTCTTCACAGGAAGAAGGTTAGGGTCCGTCCAGGGACTAGGAACAAACTCGCAGCCGGAGGGAATCGGTTGGCAGAACTGGGAGGGCGGAGTGTAGCTCAGTTGATTAGCGAGAGAAGACTTAGGACAGCTGCGTGTTCTGGACACCGTGCCGTCTGCGAGGCATCAGAGGGACTTCCCGCCTAGCCACAGGGGCACAGATACTCGATTTTGGAGCCCAGACTGTCTGCCTGGGCCCAGATCTCAGGCTCTCCATGCCCCGTGGCTCTCAGTGATGTCAGATGTGATGCAGGGATAGGAGCAGCACGCGTGTGGTCACAGGCGTATGGGAACGGAATGAGCTCATTGAGAATGAGATCTGTTGCCAGAAAGGCCTGTGAGGTGTTCCCTGTTATTTCAGTGTGGGAGGTGGCTTCCCACCATGGCTCTGCGTCCCACCCATGTCCCTCTCATCAGGCCACTTGTGTTGCTCACTCTTGTGTGTCAGGACAGACACCGGCTTCATCCCTCCCTCCCTATCAGCTCCCTTTCACCACCGTTTCAATATATGCAAGCAATTCTTGTCTTAAAGCAAAACGACTGCAAAGCCGCAGAGCTCCTCTCTAGCGGCCTCACGTGTGCAGCTCCCCAGAGTTCTGTACCCCGGGCCCCTGTCTTTCCCTCCACATTCCTGCCGCATCATCCAGCTGGGACAGCCCTTGATCGCTAGGTGGTGGGTCTGAGGGCCGCTCCAGCCATCCTCCCACCAGACCATGGCAGCACCTGTCCTGTGGGCGCGGCCTGCCTTCCTCACTTCCTCCCAGGCCTCACCCACGGCCTGCAGGTGCTCCTGGTGATGCTGCTCTGTCCTCCCTCCCTGAGCCGTCCCTCACGCCCTGTGTGTGCCCACGATGCCCAGCTCTGCCCTGGCCCCCACTCCCCACCTGACATGTCACAGGCACCTGAGTGTTGGCAGATTCCACCTCCTTTGCCCAGCCAGCAATGGAATGGCCCCACCACCTCTTCCATTCCTGACAGACGCCACTGCGCCCTTCAGCTCCCCTCAGCCCTGCAGTGCCCCCAAGCCATGGAGGCCTGCTGGCCATCCCCACCATCTTCCTCAGATGTTCTAGCTTTTCTCACTGCACGCCCTCAGCCAGACCTGCTTCCCTGGTTCCCAACCCTGCCCTGGGCTGCTTCCCACCCCTGCACCTCCATTTCTCTTCCCCCTACAGCTGGAGAGGTTTGAAATACATGTGTCTGCCCTCCCTCCACTCCTGTGGAGGTCCTTCCCTGCTCCCCCTGCCTTTAGGATGAAGTGGGTGATGGTTATTGCGGCCTCAAAGGCCCGTGGGGCACGTTTGTTGAGTAAAATGTGCATTTCCGGGGAGGGGTCCTCGCCTCTCTTCTGAGTCCGAGTCCTCATCCAGCGTTTGTAACGCGTGGGCCTGGCCCCCGCAGGCCTCCCATGTGAGTGCAGCCAGCTGCGCAAGGCCATCGGGGAGATGGACAACCAGGTCTCTCAGCTGACCAGCGAGCTCAAGTTCATCAAGAATGGTATGTGGCTCCCGGCGCCGCCCTCGCTCCCTCCCACCTCCCAGCCCTGTCCTGAGCCCCCCGGCAAGGGCTCTGCCGTGCCCACGCCTGCCCTGCCTGCCCTGCCGGCCCCTGCTGCCTGTGGCTGTGCCTTAAGTTTGTTGCACACATACAAGTGCTCACTTTTCAACCCTGCCTTACCCCACAGCTGTCGCCGGTGTGCGCGAGACGGAGAGCAAGATCTACCTGCTGGTGAAGGAGGAGAAGCGCTACGCGGACGCCCAGCTGTCCTGCCAGGGCCGCGGGGGCACGCTGAGCATGCCCAAGGACGAGGCTGCCAATGGCCTGATGGCCGCATACCTGGCGCAAGCCGGCCTGGCCCGTGTCTTCATCGGCATCAACGACCTGGAGAAGGAGGGCGCCTTCGTGTACTCTGACCACTCCCCCATGCGGACCTTCAACAAGTGGCGCAGCGGTGAGCCCAACAATGCCTACGACGAGGAGGACTGCGTGGAGATGGTGGCCTCGGGCGGCTGGAACGACGTGGCCTGCCACACCACCATGTACTTCATGTGTGAGTTTGACAAGGAGAACATGTGAGCCTCAGGCTGGGGCTGCCCATTGGGGGCCCCACATGTCCCTGCAGGGTTGGCAGGGACAGAGCCCAGACCATGGTGCCAGCCAGGGAGCTGTCCCTCTGTGAAGGGTGGAGGCTCACTGAGTAGAGGGCTGTTGTCTAAACTGAGAAAATGGCCTATGCTTAAGAGGAAAATGAAAGTGTTCCTGGGGTGCTGTCTCTGAAGAAGCAGAGTTTCATTACCTGTATTGTAGCCCCAATGTCATTATGTAATTATTACCCAGAATTGCTCTTCCATAAAGCTTGTGCCTTTGTCCAAGCTATACAATAAAATCTTTAAGTAGTGCAGTAGTTAAGTCCAAATAGTGGCAATGGGGTCTTGAATTACTACCTTTTAATTTCTATATGGAAAAGAACTCACTTTGACCAACACTTCTGTAAATTACATTACAATATAGGTTCCTTCACACTATTATCCATGTAAAAACAATTTTGCTTTGCTTCAAACCCAGATTTCAGGAAAACAACAACAAAATTCTCCAAACTTTACTACTAAATGTGTGGAGTCATTTTGTTCTCTTAATTTTTTCAATAGCTGTATTAGTTATCTTTTATTTTAATTAACTTTTGTAGAGGTGAGGTCTTGCTATGTGGCCCAGGCTGGCCTTGAACTCCTGGGCTCAAGCGATCCTCCCACCTCTCCTGAATAGCTGGGACTGCAGGCAGGAGCCACCACACCCGGCTTGTATGAGTTATTTATTGCTGCCTAACAAATTACCCCAAAACTCAGTGGCCTAAGAAAGATTGATTACCTCCCAGATCAGGAATCGGCACAGGGCTTAGCTCAGTCTTCTACTTCAGGGCCTCTCCCAAGCTGGAACCAAGGTCACTCCTCGTGTGGTTTGTGCAGAGCTCAGGTCCTCCTGGGTTGTTGGATGGAGGGCCTCAGTTTCCCACCAGCTGTGGGTCACAGGCTCCCGCAGTTCCCTGTCACAGGGGCCCTTCCCCTGGGCTGCCCACAACATGACAGCACCTTCCTCAGAGCAGCCCAGGAGAAGAGCCGAAGAGAGAAGCCGCAGCCTTTCCTAAGCTCACCTGGACATATCCTGCTGTCTGCATCCATTTGCGTTGCCACAAAGGAAAACCCGAGGCTGGGCAACAGATCAACAAAGAGGTTTATTTGGCTCACGGTTCTGCAGGCAGCACCAGAAGCGTGGTGCCAGCATCTGCTCCTGGTGAGGCCTCAGGCTGCGTCCACTCTCAAGTGGAGGGGGAGGGAGAGCCGGCACTCACAGAGATCACATGGGGAGAGGGAAGCCACGAAGAAAGAGAGGGAGGTGCCGGGCTGTTCTGCATAATCAATCAGCTTAGGGAACTAGCAGAGTGAGAACTTGCTCACTAGGGTAAGGACTGAGGACAGCACCCAAGATACTCATGAGGGTTCCGCTCCCGACCCAAACACCTATTTGGCCCCACCTCCACCATGAGGGTCACATTTCAACATGAGATCTGGAGAGGCCCAACAGCAAACCACAGCACGTGCCTTCCCTCTGTGGTGCTCTACCAGCTTGAGGCGAGGCACCGGGTGCAGCCCATACATGGGGGTGAATACCAGGGGGTGGGGACCACTGGGGGTCAGTTCAGAAGCTGCCTGCCACAGTACCTCATGGTTTTTTTTTTTTTGTATTTCAGAATCCCAATAAAAATAACAAGTATCTTCATTTTTAAAATAGAACACACGTACATGTACATTCCCTCCCAGCTGGTGTTGTGGGGCGAGAGGGAGCTGTGGAGCTGGCTCCCAGGGGTGGGTGTATTTGTGCACATCCTGTGAGGGAGGCCCCGACGGCCCTTTGTTCTAAGT
GGCGTAAAGCCCACCCGCACACCGCAGCGATGGGGGTGGATGGTGAGGTGCTGGGCAGGCCCAGGCTCCGATCCTGGGGACAGGCAGAGGCTGCTGGGCCACGGGGAGCCCCGGCACCACGGAGGCGATGACCAGGTGTCACTCTTCACAGGAAGAAGGTTAGGGTCCGTCCAGGGACTAGGAACAAACTCGCAGCCGGAGGGAATCGGTTGGCAGAACTGGGAGGGCGGAGTGTAGCTCAGTTGATTAGCGAGAGAAGACTTAGGACAGCTGCGTGTTCTGGACACCGTGCCGTCTGCGAGGCATCAGAGGGACTTCCCGCCTAGCCACAGGGGCACAGATACTCGATTTTGGAGCCCAGACTGTCTGCCTGGGCCCAGATCTCAGGCTCTCCATGCCCCGTGGCTCTCAGTGATGTCAGATGTGATGCAGGGATAGGAGCAGCACGCGTGTGGTCACAGGCGTATGGGAACGGAATGAGCTCATTGAGAATGAGATCTGTTGCCAGAAAGGCCTGTGAGGTGTTCCCTGTTATTTCAGTGTGGGAGGTGGCTTCCCACCATGGCTCTGCGTCCCACCCATGTCCCTCTCATCAGGCCACTTGTGTTGCTCACTCTTGTGTGTCAGGACAGACACCGGCTTCATCCCTCCCTCCCTATCAGCTCCCTTTCACCACCGTTTCAATATATGCAAGCAATTCTTGTCTTAAAGCAAAACGACTGCAAAGCCGCAGAGCTCCTCTCTAGCGGCCTCACGTGTGCAGCTCCCCAGAGTTCTGTACCCCGGGCCCCTGTCTTTCCCTCCACATTCCTGCCGCATCATCCAGCTGGGACAGCCCTTGATCGCTAGGTGGTGGGTCTGAGGGCCGCTCCAGCCATCCTCCCACCAGACCATGGCAGCACCTGTCCTGTGGGCGCGGCCTGCCTTCCTCACTTCCTCCCAGGCCTCACCCACGGCCTGCAGGTGCTCCTGGTGATGCTGCTCTGTCCTCCCTCCCTGAGCCGTCCCTCACGCCCTGTGTGTGCCCACGATGCCCAGCTCTGCCCTGGCCCCCACTCCCCACCTGACATGTCACAGGCACCTGAGTGTTGGCAGATTCCACCTCCTTTGCCCAGCCAGCAATGGAATGGCCCCACCACCTCTTCCATTCCTGACAGACGCCACTGCGCCCTTCAGCTCCCCTCAGCCCTGCAGTGCCCCCAAGCCATGGAGGCCTGCTGGCCATCCCCACCATCTTCCTCAGATGTTCTAGCTTTTCTCACTGCACGCCCTCAGCCAGACCTGCTTCCCTGGTTCCCAACCCTGCCCTGGGCTGCTTCCCACCCCTGCACCTCCATTTCTCTTCCCCCTACAGCTGGAGAGGTTTGAAATACATGTGTCTGCCCTCCCTCCACTCCTGTGGAGGTCCTTCCCTGCTCCCCCTGCCTTTAGGATGAAGTGGGTGATGGTTATTGCGGCCTCAAAGGCCCGTGGGGCACGTTTGTTGAGTAAAATGTGCATTTCCGGGGAGGGGTCCTCGCCTCTCTTCTGAGTCCGAGTCCTCATCCAGCGTTTGTAACGCGTGGGCCTGGCCCCCGCAGGCCTCCCATGTGAGTGCAGCCAGCTGCGCAAGGCCATCGGGGAGATGGACAACCAGGTCTCTCAGCTGACCAGCGAGCTCAAGTTCATCAAGAATGGTATGTGGCTCCCGGCGCCGCCCTCGCTCCCTCCCACCTCCCAGCCCTGTCCTGAGCCCCCCGGCAAGGGCTCTGCCGTGCCCACGCCTGCCCTGCCTGCCCTGCCGGCCCCTGCTGCCTGTGGCTGTGCCTTAAGTTTGTTGCACACATACAAGTGCTCACTTTTCAACCCTGCCTTACCCCACAGCTGTCGCCGGTGTGCGCGAGACGGAGAGCAAGATCTACCTGCTGGTGAAGGAGGAGAAGCGCTACGCGGACGCCCAGCTGTCCTGCCAGGGCCGCGGGGGCACGCTGAGCATGCCCAAGGACGAGGCTGCCAATGGCCTGATGGCCGCATACCTGGCGCAAGCCGGCCTGGCCCGTGTCTTCATCAGCATCAACGACCTGGAGAAGGAGGGCGCCTTCGTGTACTCTGACCACTCCCCCATGCGGACCTTCAACAAGTGGCGCAGCGGTGAGCCCAACAATGCCTACGACGAGGAGGACTGCGTGGAGATGGTGGCCTCGGGCGGCTGGAACGACGTGGCCTGCCACACCACCATGTACTTCATGTGTGAGTTTGACAAGGAGAACATGTGAGCCTCAGGCTGGGGCTGCCCATTGGGGGCCCCACATGTCCCTGCAGGGTTGGCAGGGACAGAGCCCAGACCATGGTGCCAGCCAGGGAGCTGTCCCTCTGTGAAGGGTGGAGGCTCACTGAGTAGAGGGCTGTTGTCTAAACTGAGAAAATGGCCTATGCTTAAGAGGAAAATGAAAGTGTTCCTGGGGTGCTGTCTCTGAAGAAGCAGAGTTTCATTACCTGTATTGTAGCCCCAATGTCATTATGTAATTATTACCCAGAATTGCTCTTCCATAAAGCTTGTGCCTTTGTCCAAGCTATACAATAAAATCTTTAAGTAGTGCAGTAGTTAAGTCCAAATAGTGGCAATGGGGTCTTGAATTACTACCTTTTAATTTCTATATGGAAAAGAACTCACTTTGACCAACACTTCTGTAAATTACATTACAATATAGGTTCCTTCACACTATTATCCATGTAAAAACAATTTTGCTTTGCTTCAAACCCAGATTTCAGGAAAACAACAACAAAATTCTCCAAACTTTACTACTAAATGTGTGGAGTCATTTTGTTCTCTTAATTTTTTCAATAGCTGTATTAGTTATCTTTTATTTTAATTAACTTTTGTAGAGGTGAGGTCTTGCTATGTGGCCCAGGCTGGCCTTGAACTCCTGGGCTCAAGCGATCCTCCCACCTCTCCTGAATAGCTGGGACTGCAGGCAGGAGCCACCACACCCGGCTTGTATGAGTTATTTATTGCTGCCTAACAAATTACCCCAAAACTCAGTGGCCTAAGAAAGATTGATTACCTCCCAGATCAGGAATCGGCACAGGGCTTAGCTCAGTCTTCTACTTCAGGGCCTCTCCCAAGCTGGAACCAAGGTCACTCCTCGTGTGGTTTGTGCAGAGCTCAGGTCCTCCTGGGTTGTTGGATGGAGGGCCTCAGTTTCCCACCAGCTGTGGGTCACAGGCTCCCGCAGTTCCCTGTCACAGGGGCCCTTCCCCTGGGCTGCCCACAACATGACAGCACCTTCCTCAGAGCAGCCCAGGAGAAGAGCCGAAGAGAGAAGCCGCAGCCTTTCCTAAGCTCACCTGGACATATCCTGCTGTCTGCATCCATTTGCGTTGCCACAAAGGAAAACCCGAGGCTGGGCAACAGATCAACAAAGAGGTTTATTTGGCTCACGGTTCTGCAGGCAGCACCAGAAGCGTGGTGCCAGCATCTGCTCCTGGTGAGGCCTCAGGCTGCGTCCACTCTCAAGTGGAGGGGGAGGGAGAGCCGGCACTCACAGAGATCACATGGGGAGAGGGAAGCCACGAAGAAAGAGAGGGAGGTGCCGGGCTGTTCTGCATAATCAATCAGCTTAGGGAACTAGCAGAGTGAGAACTTGCTCACTAGGGTAAGGACTGAGGACAGCACCCAAGATACTCATGAGGGTTCCGCTCCCGACCCAAACACCTATTTGGCCCCACCTCCACCATGAGGGTCACATTTCAACATGAGATCTGGAGAGGCCCAACAGCAAACCACAGCACGTGCCTTCCCTCTGTGGTGCTCTACCAGCTTGAGGCGAGGCACCGGGTGCAGCCCATACATGGGGGTGAATACCAGGGGGTGGGGACCACTGGGGGTCAGTTCAGAAGCTGCCTGCCACAGTACCTCATGGTTTTTTTTTTTTTGTATTTCAGAATCCCAATAAAAATAACAAGTATCTTCATTTTTAAAATAGAACACACGTACATGTACATTCCCTCCCAGCTGGTGTTGTGGGGCGAGAGGGAGCTGTGGAGCTGGCTCCCAGGGGTGGGTGTATTTGTGCACATCCTGTGAGGGAGGCCCCGACGGCCCTTTGTTCTAAGT
Task1_train_3108
The gene SOX11 (SRY-box transcription factor 11), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
ACCTGAAAGGAAGCAGATTCGGATAATTTTCCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATT
ACCTGAAAGGAAGCAGATTCGGATAATTTTCCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCCAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATT
Task1_train_3109
A genetic alteration is present in SOX11 (SRY-box transcription factor 11) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
CTGAAAGGAAGCAGATTCGGATAATTTTCCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGA
CTGAAAGGAAGCAGATTCGGATAATTTTCCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAACCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGA
Task1_train_3110
A variant was discovered in gene SOX11 (SRY-box transcription factor 11), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
CCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGAATACCAGACAGCCTAGACCTCAGTACAA
CCCAGTCCTACACGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGCCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGAATACCAGACAGCCTAGACCTCAGTACAA
Task1_train_3111
This mutation occurs in SOX11 (SRY-box transcription factor 11) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Pathogenic; not provided
CGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGAATACCAGACAGCCTAGACCTCAGTACAAAAGGTATTGAAA
CGGCTGATTTCTCTGGTGAAGGGATCCGGGCAGTGTCTTAGGAACTGCTCAAAGTTCCCAGATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAAGGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGAATACCAGACAGCCTAGACCTCAGTACAAAAGGTATTGAAA
Task1_train_3112
A variant has been detected on Chromosome 2 in SOX11 (SRY-box transcription factor 11). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
GATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGAATACCAGACAGCCTAGACCTCAGTACAAAAGGTATTGAAACATTTTTGATACATAACAGACCTCAGTCTTTTTTAAAAATTAATATATTTTCAGGCGTAT
GATACCCAGTGCTGGGGGGTGTGGAGAAGGCGAGGGTGGCGACAGACCATACCTATGAAGCGGTGATTTTCTTTAATTGCCCCCAGAATATCCGTAGAGGTAGTAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGCGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGAATACCAGACAGCCTAGACCTCAGTACAAAAGGTATTGAAACATTTTTGATACATAACAGACCTCAGTCTTTTTTAAAAATTAATATATTTTCAGGCGTAT
Task1_train_3113
A variant on Chromosome 2 in gene SOX11 (SRY-box transcription factor 11) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
TAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGAATACCAGACAGCCTAGACCTCAGTACAAAAGGTATTGAAACATTTTTGATACATAACAGACCTCAGTCTTTTTTAAAAATTAATATATTTTCAGGCGTATTTTTGTACAGTGAAAAGGGAACATTCTTGCTGTGTTTTTTCAGTAAGACTTTCAGGCACTTCTTCCCTTTTGATTTCTTTTTTTTCCTCTGTTTTTTAGCATG
TAGGGACTCAATAAAGAAACACAAAGGAGACGAACACGGCACGATCGCCGGGGTCCGCGGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGCCAGCGCACCTTTCCATCTCCAGGGAAAATATTTAGACGGGAAACTCGAGTGCACCTTATTTTCTCTTTGGTTTATGAGTGACCCAGAAGGCTTCTAGCTCACAATCGCACGATTTCAGGACGAGGCTGCCGGAGAAGCGCTGGCGACCGAGGATGGGGGAAGGACAAAGAGGAAGAGGAGGCCTGGGAAGGAGAAAGGAGCGGCGGAGGGGCGGGGAGAGGACGGGGCGGGGAGAGGAGGGGCGGGGAGCAGAGGGAGAAGGGAAGGAGGGCGCCGGGCCCCTCGCAGGGACGCCGGGCGGGGCGCGGGCTTGCTGGAGCCTGCGGGACCCAGAGCCCGCTCCGGAGCCAGCCCTGGGAGTGGCCAGCTTGAACCCGAGGGCCCCGCAGACCGTTACTCCGGCCCCCGCCCGGGGCGGGGCGCGCGGGGGCGCGGCGCAGCCCAACCCGCACAGCCGCGTCCCCAAACACCACCGAGGAGGGAAAACAGACGGAGAAAAAGGACAAAACAGAAAAATGCAAAACGGGGGAGGGAGCTCACCGCCTCTCGAGCTTTAAATTGATTTCTTTGCCTTACAAAAAGGGAGAAAGGGAAAAGGAGAGCAGAGCCCACGTGCCGGGAAGGTTGCTGTCTTCAAGCGCCACCTTCCGTCGGCCAGGGCCGCCGCGGGGCTACCGGGCGGGCTCGGGGCGGCGACCCGGGGGAGCGGCCGAGCCCCGCGAGGGGCTCGCCGGGGAGCAGCTGCGCCCACCCCGGGGCAGGCCGGGCGCGGCTGACCGCGAGCCGGGCGGAGGCCGCCGTCTCAGGCTGGGCGCGTGCCCGAGTGTGTGCACCCGGGGAGTGAGCGCGCGCCGTCCGCTGTCGCCGTCGGGCCTCCCGGGGACTGGGCACAAAGGCGCGCGGGGCCTCTCCCGGGACCCGGTCCTCGGTTAGCGCCGGCGCCCGAACCATCCCGGTTCGCCCCGGGCCGCCCGCTCCCCGTGGTGCCGCGCGCCGCTTCCGAGCATCCCGGGAACAGGCGCATCTGTGCACACACGCGGATTTTTTAAAAATAACATATTTCTAGACATGCCTCCTCTCCCCCCACCCCCATCTTTGCAAAGCAGCCCGGAGGGCGGGGTGGAGGGGCGGGGCCTCCGAGTTAATAAAGGAAGATGGGCGGAGCCGGCCCCCAGCCATTGGCTAGCTGGGGGAGTGATGTCACCCATATGACACCCTGATAACTAGTTGAGAGAGAGACCTCAACTTTTTGCAGAAGGAGCGCGCGCGCCTGGGAGAGCTCGGGGTCCGGCGCTTGCGGTAGGAGCCACGAGCCGGAGAGAGGGGTCCCGGGCTGCCTCGACCGCCGTCGCCACCGCCTCTCCTGTCGCGACCGCAGCTCCCACCGCGCCGGCGGCCGTCGTCGCCGAAGCCACCACAGCCGCTGTGTGCAGCCTGGAAGGGGGGGCGGGGGGGAGGGGGGGAGCCGCGAAAGCGGGGTGCCGAGGACTTTGCAACTTGCCCAGGAAGGTGGAGGGGTGGGAGGGGGAGGGGGACCTCCGCACGAGACCCAGCGGCCCGGGTTGGAGCGTCCAGCCCTGCAGCGGATCATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGACACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGACTGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCCAAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCCAAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTCCCGGCCCCGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAGAGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCCAAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCGGGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTGGGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTGTTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAACAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGGCAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACGCTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGCGCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAGCAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCCACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGACCTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAGCTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGATTCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACATATTGAAAGGCGCCCGCTGCTCGCTCTTTCTCTCGGAGGGTGCAGAGCTGGGTTCCTTGGGAGGAAGTTGTAGTGGTGATGATGATGATGATAATGATGATGATGATGGTGGTGTTGATGGTGGCGGTGGTAGGGTGGAGGGGAGAGAAGAAGATGCTGATGATATTGATAAGATGTCGTGACGCAAAGAAATTGGAAAACATGATGAAAATTTTGGTGGAGTTAAAGTGAAATGAGTAGTTTTTAAACATTTTTCCTGTCCTTTTTTTGTCCCCCCTCCCTTCCTTTATCGTGTCTCAAGGTAGTTGCATACCTAGTCTGGAGTTGTGATTATTTTCCCAAAAAATGTGTTTTTGTAATTACTATTTCTTTTTCCTGAAATTCGTGATTGCAACAAAGGCAGAGGGGGCGGGGCGGGGGAGGGGAGGTAGGACCCGCTCCGGAAGGCGCTGTTTGAAGCTTGTCGGTCTTTGAAGTCTGGAAGACGTCTGCAGAGGACCCTTTTGGCAGCACAACTGTTACTCTAGGGAGTTGGTGGAGATATTTTTTTTTCTTAAGAGAACTTAAAGAACTGGTGATTTTTTTTTAACAAAAAAAGGGACCATTGCAACTTTTGTTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGGGAGAAAACTGATGTCTTCTATGCATCCGATTCTTAACAAAACTGCAGGGAGCTTGAAAAAATGCAGACTGTACAAACGCTTACAAAAAAAAAAACTGTGAACTGACTTAAGATCAGAGTTTACTTTTCAGATCAAATTGTTTATGGTTTTACAAATGTGATTTCTACTTGCCAACTTTTTTTTTGTAACTTGTTCCCTTATACCTCCTTGATTGAATACCAGACAGCCTAGACCTCAGTACAAAAGGTATTGAAACATTTTTGATACATAACAGACCTCAGTCTTTTTTAAAAATTAATATATTTTCAGGCGTATTTTTGTACAGTGAAAAGGGAACATTCTTGCTGTGTTTTTTCAGTAAGACTTTCAGGCACTTCTTCCCTTTTGATTTCTTTTTTTTCCTCTGTTTTTTAGCATG
Task1_train_3114
A variant affecting Chromosome 2, within the gene CPSF3 (cleavage and polyadenylation specific factor 3), has been observed. Determine if it's benign or associated with disease.
Pathogenic; not specified
ACTTGAACCTGAGAGGTTGAGGCTGCCATGAGCCATGATCATACCACTACCCTCAAGGCTAGTCGACAGCCTGGGTGTAAAACACAAACAAAAACAAACAATAATAGCATAATATGACTATACTTTTTTTTTAAGTGTTCAAAATCGGTTAACTCTTGGCAATTCTCTTTTGTAATTAGCACTCAATAAATCTGTTTGAAATATTAATAATACATTTTTAAAACCATCACAGAATTTTTTCTAGTACACTTTTCTAATACATTTAAATAAAAATGTATTATTTAGTGTCTTATTATGGTAGTAAGTTATAGACTTCAGTGTAAACTTATACTGAGTCATGTTTAAAAGCCTCCACATCTTTGGACTATGATCATAGCATTCTTTTTAGGTCATGCACTATTTAGAAATAAGTTTTGGTTTTGTAAATTTAAGTTAGTTACAACCAGGATAATTTTGCTTAAACTCTTTAAAATATAGTTGTGTGCTTTATTTCTTGGTTGTATGTGTATCATTTCTTGTTCTGTGTGTATCATTTGTTATTTGAACTGTTTACCCCATCTAACAAAGTGATGTTTGTTTCTTGCAAAATCTCTCTAGATGAGTACTGGCAGAATCACCCAGAACTACATGACATTCCAATATACTATGCATCATCTTTGGCCAAGAAGTGTATGGCAGTGTACCAGACATATGTAAATGCCATGAATGACAAAATCCGCAAACAGATCAACATCAATAATCCCTTTGTTTTCAAACACATTAGTAACCTCAAGGTGAGTGCTTGTGGAAGAAAGACAAGGATGGATAAAACCAAATCAGTCATTAGTAGTAGGAGGTACGAGGCCGTGAGTGATGGCTCACAGCTGTAATTTAGCACTTTGGGAGTCTAAGGCAGGAGGATCACTAGAACTCAGGAGTTTGAGACCGGCCTGGGCAAGATAGTGAGACCCTGTCTCTATCAAAATAAAATAAAAATCGTAGGCAGTGCTTGTCAGTGACTCTGGCTGAATTCCTCTTGCTGGAGTCTTACCGCTTCTCAACAGGTGTCGTTTTTCTGCAGAAAATCAAAACTTCAGCAGCTGACATTCTTTTTCTGCTTCAACAGATTTTGCCACTTGCCCCAAGTAGCCATGTGTTCTCAGTATTTATAATACTCATCTCTTTTGCCGTAGGCATAAAAAGTTCTGAGGAGAAAAATATTTTGTATTATGTATTTAAGTTTCTCTTCTCACTCAAACCAAATCATCTTTTTGATTAGTGCTGCAAATTCTATATATGAAAATTTTTATATACTTTTCTGGAAGCATTCAATAAAATCTGATTTTATTTAATTTAAAAAATACTGTTTAACTCGATGCTTGAATCATAATAAAATAATTGATATCCGAAATAATTTAAAAGTGGACTTCCAGTTGTAAATAGGCTTTGTTCATAAAGTATTTATTTTAAGTTAACTGCTTAAGGATTGTAGACAAGTTCTCCCTAGAACAATGTTAAACCTTTTGATTTCCAGGCCAGCTCAAAACATGCATGGAGCATGCAAAGCTATTGTGAGTCTTTGGGAATATTTTTTCAGAGTTGTGTCTTGGGTAGATCAAGACCCATTTGACTCTTCCTTTTACTTTTCTGCCTGCCTGCTAGGCGCTGAAGATGGTCCTGATGGTTCTGATGGCCCTCTAGCTACCAACAGAAGGTTTTGAAGATCGGGGTGAACTTACCGCTTTTTATTACTTGGTTTTTCTACCATTCCTAGCCTAAACTGTTTAGGAATTTGGCAACTGAACTTAAAATGTTTACAGATCTTGTGAAGGCTCTTTCAGTGATGTGATTAATCTCTTAGCCTTTTGTTATTCTTTAAAAAGAAAGAATGCTTTGTCAGCTGCTGGTAGCTAACATACTTTTCCCATTCTGTTTTCTCTCTTAGAGCATGGATCATTTTGATGACATTGGTCCCAGTGTTGTAATGGCCTCCCCAGGCATGATGCAAAGTGGCTTATCCAGAGAATTATTTGAAAGCTGGTGTACTGATAAGAGGAATGGTGTCATTATAGCGGGATACTGTGTAGAAGGGACACTTGCCAAGGTCAGTTACAGTCATAGGCTGTTGTGTTATTCCTATTCAGAATCACGGAGGTGGCACGGTCCTCACAGGTTTTTGCACTGAAGTAGTTCTTCAAATAATACAAGTTTTGATTTTTAAAAATGAGGACGGGAATAGGTAGCTAGAGATGTGCGTAGGATGTAGAATTATGCAGACACTGAATGGCATAATGAGGTCCCAGGTGATTGATATACACATTAAAGTTTGAGAAATGCTCATCTGGTTGCAAGTAGAGAAGAATGGACAGGAACCTGTTTGAGACAAACACGTGAATACTCTCCGTCCTCTCATGAAGAAGAGGTTGACTAATACATATGATCTTAAAAAGCTGTAGAATGTGTTTGGGTTGACCACTTTCTACTATTATGAAACATTGATTTTCAGCTCTTAGGGATGTAGAAATTGTAGAAAATATATGCAGAACTTGGGAGGCAGTTTCTGAGCATCCAGGCATCACATTCTCATCCTCTATTTTATTTTTAAAAATATGATATGATTCTTTGATAATCTTTATTACTTTACCTTATTCTATAAAGTTCTTTAGTGACAATGTTGTATTTAAAATAGATTTCCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGTATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGGAGAATTGCTTGAAACTGGAGGCGGAGGTTGCAGTCAGCCGAGATTGGCGCCACTGCACTCCAATCTGGGTGACGGAGCAAGACTCCATCTCCAAAAAAAAAAGAAAAAAAAAATTTCCAGGCCTGGCACAGTGCCTCACATCTGTAATCCTAGCACTTCAGGAGGCCACAGCAGGTGGATCACTTGAGCTCAGGAGTTGGGGACCAGCTTGGGCAACATGGAGAAATCCCATCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAGTCCTAGCTAGTTGGGGGACTGAGGCAGGAGGCTTGCTTGAACCCAGGAGGTCGAGGCTGCAGTGAGCTGAGATCGCACACTGCATTTCAGCCTGGGTGACAAAGTGAGACCCTATTTGAAAAAACAAAGATTTTCAGAATAGAAATATATCCACATATCTAGGAAATGACTTTGGAGAGCACAAGAATAGTTGGGAATACAGGTTTGTCTTTCTAAGCATAAGAGTTATGATTCTCACTGCCAGCACTCCAGATAGATGAGTTTTAGTTAATTTGTTTACTTTTCTCATTAAATGTTTGCTTGATTGAGAACATGAGTATTTGATATTTACTGAGTCAGTTATATTAGAATGATTTTGTGCGTAAGGTCCTAAATTTAACATGAATTTATGACTGCATGAAAAAAATGAAAATGTACCTTTACGATTATAACTGGGTAGTTTGTTTTGTTATTTTTCTTTATTTTCCACAGCACATCATGTCTGAACCTGAAGAAATCACTACTATGTCTGGACAGAAGTTACCACTGAAAATGTCTGTTGATTACATTTCTTTCTCAGCTCACACGGATTACCAGCAAACCAGTGAATTTATTCGTGCTTTGAAACCGCCTCATGTGGTTAGTCTATGAATTTCATTTATTGTATTAAAGGGAAAAAAAGTGCATACCCAGGAAACTGTGCAGCAGGCAGTTCACAAAGCAGGCATCATCACCTACTAATGCGACACCCCCTGAGCAGAGCCTTTCACATGCACTCGGATTTGGCCTTTACAACTCCCCTTTGATTTCAGCAAGCTGCCCCCTTTCTCCAGAACTGACTGACTCAGACCTACCAACCCCAATCCTAATGTTTTTCTGTTATTTTCTGCTGCCTCTCCAATAATTTAAGAGCCAGGCTTGGAGTATGACTGCTCATTTGGAATGCCAGCTCCATCTCTTACTTACT
ACTTGAACCTGAGAGGTTGAGGCTGCCATGAGCCATGATCATACCACTACCCTCAAGGCTAGTCGACAGCCTGGGTGTAAAACACAAACAAAAACAAACAATAATAGCATAATATGACTATACTTTTTTTTTAAGTGTTCAAAATCGGTTAACTCTTGGCAATTCTCTTTTGTAATTAGCACTCAATAAATCTGTTTGAAATATTAATAATACATTTTTAAAACCATCACAGAATTTTTTCTAGTACACTTTTCTAATACATTTAAATAAAAATGTATTATTTAGTGTCTTATTATGGTAGTAAGTTATAGACTTCAGTGTAAACTTATACTGAGTCATGTTTAAAAGCCTCCACATCTTTGGACTATGATCATAGCATTCTTTTTAGGTCATGCACTATTTAGAAATAAGTTTTGGTTTTGTAAATTTAAGTTAGTTACAACCAGGATAATTTTGCTTAAACTCTTTAAAATATAGTTGTGTGCTTTATTTCTTGGTTGTATGTGTATCATTTCTTGTTCTGTGTGTATCATTTGTTATTTGAACTGTTTACCCCATCTAACAAAGTGATGTTTGTTTCTTGCAAAATCTCTCTAGATGAGTACTGGCAGAATCACCCAGAACTACATGACATTCCAATATACTATGCATCATCTTTGGCCAAGAAGTGTATGGCAGTGTACCAGACATATGTAAATGCCATGAATGACAAAATCCGCAAACAGATCAACATCAATAATCCCTTTGTTTTCAAACACATTAGTAACCTCAAGGTGAGTGCTTGTGGAAGAAAGACAAGGATGGATAAAACCAAATCAGTCATTAGTAGTAGGAGGTACGAGGCCGTGAGTGATGGCTCACAGCTGTAATTTAGCACTTTGGGAGTCTAAGGCAGGAGGATCACTAGAACTCAGGAGTTTGAGACCGGCCTGGGCAAGATAGTGAGACCCTGTCTCTATCAAAATAAAATAAAAATCGTAGGCAGTGCTTGTCAGTGACTCTGGCTGAATTCCTCTTGCTGGAGTCTTACCGCTTCTCAACAGGTGTCGTTTTTCTGCAGAAAATCAAAACTTCAGCAGCTGACATTCTTTTTCTGCTTCAACAGATTTTGCCACTTGCCCCAAGTAGCCATGTGTTCTCAGTATTTATAATACTCATCTCTTTTGCCGTAGGCATAAAAAGTTCTGAGGAGAAAAATATTTTGTATTATGTATTTAAGTTTCTCTTCTCACTCAAACCAAATCATCTTTTTGATTAGTGCTGCAAATTCTATATATGAAAATTTTTATATACTTTTCTGGAAGCATTCAATAAAATCTGATTTTATTTAATTTAAAAAATACTGTTTAACTCGATGCTTGAATCATAATAAAATAATTGATATCCGAAATAATTTAAAAGTGGACTTCCAGTTGTAAATAGGCTTTGTTCATAAAGTATTTATTTTAAGTTAACTGCTTAAGGATTGTAGACAAGTTCTCCCTAGAACAATGTTAAACCTTTTGATTTCCAGGCCAGCTCAAAACATGCATGGAGCATGCAAAGCTATTGTGAGTCTTTGGGAATATTTTTTCAGAGTTGTGTCTTGGGTAGATCAAGACCCATTTGACTCTTCCTTTTACTTTTCTGCCTGCCTGCTAGGCGCTGAAGATGGTCCTGATGGTTCTGATGGCCCTCTAGCTACCAACAGAAGGTTTTGAAGATCGGGGTGAACTTACCGCTTTTTATTACTTGGTTTTTCTACCATTCCTAGCCTAAACTGTTTAGGAATTTGGCAACTGAACTTAAAATGTTTACAGATCTTGTGAAGGCTCTTTCAGTGATGTGATTAATCTCTTAGCCTTTTGTTATTCTTTAAAAAGAAAGAATGCTTTGTCAGCTGCTGGTAGCTAACATACTTTTCCCATTCTGTTTTCTCTCTTAGAGCATGGATCATTTTGATGACATTGGTCCCAGTGTTGTAATGGCCTCCCCAGGCATGATGCAAAGTGGCTTATCCAGAGAATTATTTGAAAGCTGGTGTACTGATAAGAGGAATGGTGTCATTACAGCGGGATACTGTGTAGAAGGGACACTTGCCAAGGTCAGTTACAGTCATAGGCTGTTGTGTTATTCCTATTCAGAATCACGGAGGTGGCACGGTCCTCACAGGTTTTTGCACTGAAGTAGTTCTTCAAATAATACAAGTTTTGATTTTTAAAAATGAGGACGGGAATAGGTAGCTAGAGATGTGCGTAGGATGTAGAATTATGCAGACACTGAATGGCATAATGAGGTCCCAGGTGATTGATATACACATTAAAGTTTGAGAAATGCTCATCTGGTTGCAAGTAGAGAAGAATGGACAGGAACCTGTTTGAGACAAACACGTGAATACTCTCCGTCCTCTCATGAAGAAGAGGTTGACTAATACATATGATCTTAAAAAGCTGTAGAATGTGTTTGGGTTGACCACTTTCTACTATTATGAAACATTGATTTTCAGCTCTTAGGGATGTAGAAATTGTAGAAAATATATGCAGAACTTGGGAGGCAGTTTCTGAGCATCCAGGCATCACATTCTCATCCTCTATTTTATTTTTAAAAATATGATATGATTCTTTGATAATCTTTATTACTTTACCTTATTCTATAAAGTTCTTTAGTGACAATGTTGTATTTAAAATAGATTTCCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGTATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGGAGAATTGCTTGAAACTGGAGGCGGAGGTTGCAGTCAGCCGAGATTGGCGCCACTGCACTCCAATCTGGGTGACGGAGCAAGACTCCATCTCCAAAAAAAAAAGAAAAAAAAAATTTCCAGGCCTGGCACAGTGCCTCACATCTGTAATCCTAGCACTTCAGGAGGCCACAGCAGGTGGATCACTTGAGCTCAGGAGTTGGGGACCAGCTTGGGCAACATGGAGAAATCCCATCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGGCACGTGCCTGTAGTCCTAGCTAGTTGGGGGACTGAGGCAGGAGGCTTGCTTGAACCCAGGAGGTCGAGGCTGCAGTGAGCTGAGATCGCACACTGCATTTCAGCCTGGGTGACAAAGTGAGACCCTATTTGAAAAAACAAAGATTTTCAGAATAGAAATATATCCACATATCTAGGAAATGACTTTGGAGAGCACAAGAATAGTTGGGAATACAGGTTTGTCTTTCTAAGCATAAGAGTTATGATTCTCACTGCCAGCACTCCAGATAGATGAGTTTTAGTTAATTTGTTTACTTTTCTCATTAAATGTTTGCTTGATTGAGAACATGAGTATTTGATATTTACTGAGTCAGTTATATTAGAATGATTTTGTGCGTAAGGTCCTAAATTTAACATGAATTTATGACTGCATGAAAAAAATGAAAATGTACCTTTACGATTATAACTGGGTAGTTTGTTTTGTTATTTTTCTTTATTTTCCACAGCACATCATGTCTGAACCTGAAGAAATCACTACTATGTCTGGACAGAAGTTACCACTGAAAATGTCTGTTGATTACATTTCTTTCTCAGCTCACACGGATTACCAGCAAACCAGTGAATTTATTCGTGCTTTGAAACCGCCTCATGTGGTTAGTCTATGAATTTCATTTATTGTATTAAAGGGAAAAAAAGTGCATACCCAGGAAACTGTGCAGCAGGCAGTTCACAAAGCAGGCATCATCACCTACTAATGCGACACCCCCTGAGCAGAGCCTTTCACATGCACTCGGATTTGGCCTTTACAACTCCCCTTTGATTTCAGCAAGCTGCCCCCTTTCTCCAGAACTGACTGACTCAGACCTACCAACCCCAATCCTAATGTTTTTCTGTTATTTTCTGCTGCCTCTCCAATAATTTAAGAGCCAGGCTTGGAGTATGACTGCTCATTTGGAATGCCAGCTCCATCTCTTACTTACT
Task1_train_3115
The gene CPSF3 (cleavage and polyadenylation specific factor 3), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
TGGAGGAAAAAAAGAAATTAGCAAAACTTAGGGTATGAGGTTTTTGTTGTAAATAGTCGTAGTTACTCCTGAGTCTTACTGTCCACAAAACTTTTCAGGGGCCGATTTAATAGTATTTTTCTTATACCTGTAGAAAAATATACTCAGTTGAGAATCTAGAACTGTATTTCACATACTCTGCTGGTGGTGGATATGTGGGGAGAAAAAAAAAGTTTTGCAGTCAGACAGTTTAGAAGATGAATTGAACTGAGTTCAGGAAAAGTTGGGTTTCTTATCGGAGTGTTCTGTTTCTCACCCATAATTTTAATGATTTAAAATCATTACCTTTAGTTATTTTTCTCTCTCAAGTACATCACTGTATTAAAATTAGTCTCCTAGGAGCAAAGGTTCTTTTCTGAAAGCTACCTACAATTAAGGAGAAAATAACCCTAGGAAATACTGTGAAATACAACCCTCTGTGTTTATAATTATGAGAACAAATATAGCACTGCCTGGTTGCTGTTTGCCCTTACTTGCTTAAAGGCAAACAAGTATGGAACACACTACCTTTATTCCTTTGAGCTCATTTATTTGCAGTTGAGAGAAGTTATATTTAAGAATACTGGGTTTCAGCCAGGCTTGGTGGCTCTCGCCTGTAATCCCAGCACCTTGGGAGGCCATAGCAGGCAGATCCCTTAAGCTCAGGAATTGAAGATCAGCATGGGCAACATAGTGAAACTCCATCTCTACAAAAAATACAAAAATAAGCCAGGCATGGTGGCGCACATGGTGAGCGATGATCGCACCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTGTCTCAGAAAAATAAATAAATGAAACTTTTTTTTTTTTTTTTTTTGAGAAAAAGTCTCGCTCTGTCTCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGGCCAGCTAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCATTATATTGGCCAGGATGGTCTCAATCTCGTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAATGCTGGGATTATGGGCGTGAGCCACCATGCCCGGCCATAAATGAAACTTTTTAAAAATGAATAGTGGGGCTGGGTGTCATGGCTCACGCATGTAATTCCAACACTTTGGGAGGCCGAGGTGGGCAGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAGCCCCATTTCTACTAAAAATAGAAAAATTAGCCGGGCATGGTGGTAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGCGACAGTGAGACACTGTCTCAAAAAAAAAAAAAAAAAAGAATAGTGGGTTTCACGTTTGTAGTATTTTTGTTTTTAAATGGTTGTTATTTTATTCTCTTAAAAATGTTTCTCCCTCAATGTATGAGCTCACCCATAACCTGTTTTTATTGACCTTTTTATTCAAAGCCGCTGCTGCTGCTTTTAGTGTTAGGTGTACCACAGCCTCCCAGGTTTGTATCAGTGGGCCTCACTCTCTGTTATGAGTTTGCAGCCAGCCTGAGGGAGTGCATGTGTGCGTTTCACGGGGACTTCCCGGCCTTCCCTACTGCAGTGCAGCTAGTGAGAGCTTTCTTAAGCCCCGGCACCTAGTAAGTTACTTGCTTGTTGAACTGATTAGAACTGAACTGTGCCAGATCTGCCACTGTGACTCTTCCCTTTGACATTGGTAGCAATGCAACTGCCCTCATCATAGAGATATCAAACATTTTATGTTTTTCGTGGTTAAATCCATATGTTGTTTTCATAGTTCAAAGGTGTTATGGTCTTCATTATGATGAACTGCATTTTATTACCTGAAAAACTGCATTTTACCAGGTTCTATTTTCTTCAAGTATTTTTTTTTTACAGGTTATGGGATTTTTAGCAGACAAAAAACCAGAACAAGGCCAGCGGGTCTCAGGAATACTTGTTAAAAGAAACTTTAATTATCACATACTTTCTCCTTGCGACCTGTCCAGTAAGTATACTATTAAATGTCAAATCCAACTTCACCTTAGCACTGAAAGAAAATCTATGAAAACTTCTCTTCACCTTGTGGCCTAATGTTATGTAATAGACAAATAATAAAAAAGGAATGAGGCAAGTTAGCTAATTAGCTTTGTGGGGAGAGAAAAACACCTCCCATGAACTACTGAAAGATTGAAATTATTGGTGAAATCACTTTCTTCATCTTTGGAAACATAAGTTCATTTCTGAGTTCACCTTGTTTTCTACCCTCTACAACAGACTTGTGGGCTTTTATTTTCTGAAGTGACTTTGGATTCCCCAGAGAAGCCGTTTGGTTTTTATGACCTTTGCATAAGCATTTCAGTTTTTTATGACCTTTACATCACTTGCAGGGCCTTTGTATTCCTTCACCATTCCAAAAGGAGTAGGAACAAAAACTTGTATAATTTCTTTAAAAGCAAAAAAGTATTAATGTAAAGCCTAATTTTTTCATTACATTGAAACTTTCAACATCCAAATAAGTAACACCAACTATATAACTGATGCCTCTAATGTGTGTGTATACATTGAAGCTCATTATAGAGAAAAATGAAAAATTGGGCAGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGAGAAGCCGAGGCAGGTGGATCACGAGGTCAAGAGATCGAGACCATCCTGACCAACATGGTGAATCCCCGTCTCTACTAAAAATACAAAAATTAGCTGTATGTGGTGGCACGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAAGTGGGAGGTGGAGGTTGCAGTGAGCTGAGATAATGCCACTGCATTCCAGCCTAGTGACACAGCAAGACTCCATCTCAAAAAAAAGGAAAAATTGCACAAAACTAATAAGATTACATTTAAGTTTGTAAATTGCTTTTTTCCCATAGTTGATACACATTTCCATATGCATTCTTTGTCTTTATAAATTTACTGAGCCATCAATAAGTCATTTTCCAATGAATATGGTATTATTTTCGAGTAAATACTATGCTCAAGGTGATTTACATGGTACTAATACATTATATGTGCTTTATGCAGGAATAAAAAATAGCAGTGGCCCGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACAAGGTCAGGAGTTCGAGACCATCCTGGCCAACGTGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGTGGCAAGAGAGTTGCTTGAATGCAGGAGGCAGAGGTTACAGTGAGCCGAGATCACGCCATTGCACTCCAACCCGGGCAACAGTGCGAGACTCTGTCTCAAAAAAGAAAGAAAGAAATAGCAGCAGTGGTGAGGTATTTACCTGTGAGATTGCCCTGCTGTCAGTTTTCATAGCATCATAGGTCACTGTCTGACTTGTGCCTTCATTCTGAGTTAGTGAGCTCTTATACTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGTGCCGTCTCTGCTTACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCGGGCCCGAGCTCTTACTCTTATGCCACATAGTCCCAGCCCTTGAAATCTGTCTAATGAGGGAAGCAGTCTTGGGAAGAGCTAATCCCAGTATTGCTCAGTGGCATATAGAAGCTCATGATACATATGTG
TGGAGGAAAAAAAGAAATTAGCAAAACTTAGGGTATGAGGTTTTTGTTGTAAATAGTCGTAGTTACTCCTGAGTCTTACTGTCCACAAAACTTTTCAGGGGCCGATTTAATAGTATTTTTCTTATACCTGTAGAAAAATATACTCAGTTGAGAATCTAGAACTGTATTTCACATACTCTGCTGGTGGTGGATATGTGGGGAGAAAAAAAAAGTTTTGCAGTCAGACAGTTTAGAAGATGAATTGAACTGAGTTCAGGAAAAGTTGGGTTTCTTATCGGAGTGTTCTGTTTCTCACCCATAATTTTAATGATTTAAAATCATTACCTTTAGTTATTTTTCTCTCTCAAGTACATCACTGTATTAAAATTAGTCTCCTAGGAGCAAAGGTTCTTTTCTGAAAGCTACCTACAATTAAGGAGAAAATAACCCTAGGAAATACTGTGAAATACAACCCTCTGTGTTTATAATTATGAGAACAAATATAGCACTGCCTGGTTGCTGTTTGCCCTTACTTGCTTAAAGGCAAACAAGTATGGAACACACTACCTTTATTCCTTTGAGCTCATTTATTTGCAGTTGAGAGAAGTTATATTTAAGAATACTGGGTTTCAGCCAGGCTTGGTGGCTCTCGCCTGTAATCCCAGCACCTTGGGAGGCCATAGCAGGCAGATCCCTTAAGCTCAGGAATTGAAGATCAGCATGGGCAACATAGTGAAACTCCATCTCTACAAAAAATACAAAAATAAGCCAGGCATGGTGGCGCACATGGTGAGCGATGATCGCACCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTGTCTCAGAAAAATAAATAAATGAAACTTTTTTTTTTTTTTTTTTTGAGAAAAAGTCTCGCTCTGTCTCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGGCCAGCTAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCATTATATTGGCCAGGATGGTCTCAATCTCGTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAATGCTGGGATTATGGGCGTGAGCCACCATGCCCGGCCATAAATGAAACTTTTTAAAAATGAATAGTGGGGCTGGGTGTCATGGCTCACGCATGTAATTCCAACACTTTGGGAGGCCGAGGTGGGCAGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAGCCCCATTTCTACTAAAAATAGAAAAATTAGCCGGGCATGGTGGTAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGCGACAGTGAGACACTGTCTCAAAAAAAAAAAAAAAAAAGAATAGTGGGTTTCACGTTTGTAGTATTTTTGTTTTTAAATGGTTGTTATTTTATTCTCTTAAAAATGTTTCTCCCTCAATGTATGAGCTCACCCATAACCTGTTTTTATTGACCTTTTTATTCAAAGCCGCTGCTGCTGCTTTTAGTGTTAGGTGTACCACAGCCTCCCAGGTTTGTATCAGTGGGCCTCACTCTCTGTTATGAGTTTGCAGCCAGCCTGAGGGAGTGCATGTGTGCGTTTCACGGGGACTTCCCGGCCTTCCCTACTGCAGTGCAGCTAGTGAGAGCTTTCTTAAGCCCCGGCACCTAGTAAGTTACTTGCTTGTTGAACTGATTAGAACTGAACTGTGCCAGATCTGCCACTGTGACTCTTCCCTTTGACATTGGTAGCAATGCAACTGCCCTCATCATAGAGATATCAAACATTTTATGTTTTTCGTGGTTAAATCCATATGTTGTTTTCATAGTTCAAAGGTGTTATGGTCTTCATTATGATGAACTGCATTTTATTACCTGAAAAACTGCATTTTACCAGGTTCTATTTTCTTCAAGTATTTTTTTTTTACAGGTTATGGAATTTTTAGCAGACAAAAAACCAGAACAAGGCCAGCGGGTCTCAGGAATACTTGTTAAAAGAAACTTTAATTATCACATACTTTCTCCTTGCGACCTGTCCAGTAAGTATACTATTAAATGTCAAATCCAACTTCACCTTAGCACTGAAAGAAAATCTATGAAAACTTCTCTTCACCTTGTGGCCTAATGTTATGTAATAGACAAATAATAAAAAAGGAATGAGGCAAGTTAGCTAATTAGCTTTGTGGGGAGAGAAAAACACCTCCCATGAACTACTGAAAGATTGAAATTATTGGTGAAATCACTTTCTTCATCTTTGGAAACATAAGTTCATTTCTGAGTTCACCTTGTTTTCTACCCTCTACAACAGACTTGTGGGCTTTTATTTTCTGAAGTGACTTTGGATTCCCCAGAGAAGCCGTTTGGTTTTTATGACCTTTGCATAAGCATTTCAGTTTTTTATGACCTTTACATCACTTGCAGGGCCTTTGTATTCCTTCACCATTCCAAAAGGAGTAGGAACAAAAACTTGTATAATTTCTTTAAAAGCAAAAAAGTATTAATGTAAAGCCTAATTTTTTCATTACATTGAAACTTTCAACATCCAAATAAGTAACACCAACTATATAACTGATGCCTCTAATGTGTGTGTATACATTGAAGCTCATTATAGAGAAAAATGAAAAATTGGGCAGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGAGAAGCCGAGGCAGGTGGATCACGAGGTCAAGAGATCGAGACCATCCTGACCAACATGGTGAATCCCCGTCTCTACTAAAAATACAAAAATTAGCTGTATGTGGTGGCACGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAAGTGGGAGGTGGAGGTTGCAGTGAGCTGAGATAATGCCACTGCATTCCAGCCTAGTGACACAGCAAGACTCCATCTCAAAAAAAAGGAAAAATTGCACAAAACTAATAAGATTACATTTAAGTTTGTAAATTGCTTTTTTCCCATAGTTGATACACATTTCCATATGCATTCTTTGTCTTTATAAATTTACTGAGCCATCAATAAGTCATTTTCCAATGAATATGGTATTATTTTCGAGTAAATACTATGCTCAAGGTGATTTACATGGTACTAATACATTATATGTGCTTTATGCAGGAATAAAAAATAGCAGTGGCCCGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACAAGGTCAGGAGTTCGAGACCATCCTGGCCAACGTGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGTGGCAAGAGAGTTGCTTGAATGCAGGAGGCAGAGGTTACAGTGAGCCGAGATCACGCCATTGCACTCCAACCCGGGCAACAGTGCGAGACTCTGTCTCAAAAAAGAAAGAAAGAAATAGCAGCAGTGGTGAGGTATTTACCTGTGAGATTGCCCTGCTGTCAGTTTTCATAGCATCATAGGTCACTGTCTGACTTGTGCCTTCATTCTGAGTTAGTGAGCTCTTATACTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGTGCCGTCTCTGCTTACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCGGGCCCGAGCTCTTACTCTTATGCCACATAGTCCCAGCCCTTGAAATCTGTCTAATGAGGGAAGCAGTCTTGGGAAGAGCTAATCCCAGTATTGCTCAGTGGCATATAGAAGCTCATGATACATATGTG
Task1_train_3116
Given this variant in gene NBAS (NBAS subunit of NRZ tethering complex) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; not provided
ATATAAGTTTAAAATAATTTTAGATGTGTTTATTTAAAAATAAGTACTTAAAAATTTATAAGTATAGATCACTTTTCCTTGAAGATTGTAATTTTACTCTACTTCTCCTAATTATGAACTGTAGTACTGTAAATGTTAGTAGGATAAAATCAAGATTGGTAAAGCCAATTTGTTTCCTGCAAAGCCTTCTATATTGTTCATACCATTATTTAACATTATTCATTAGACAGAAAAATAGGCATTCCAAAACACAAAATGAATAAAATTTCTTTCAAAATTTTAAGTTCTTCCCATTATCTTTTCAATGGGGGCTTTGCATTTATGTCTTGTACAAATTTTGAAGTCTCCCATTTGCTCATTACCTGAAGTCTCCACTGACTGATCTTTCTAGCCATTCTACAAGGCAAGAATACAATTCAATAAATGTGTAAGGTTTAAGAAAAATAAAAGAGGAGGTTAACGGCCACTTACAAGGTTCATTTACCATAGTATTATAGGGCAAATGGAATATTATTCATATATATAAGCACTGTTTTCACTTACATGGAAATCATTTATTTATTGATTTGTCAACTTTCCAGTTATAGAAAAAATTATCTCAACTCCCACAATTGTTAAAATATAGAACAAAATCTCTAAGGGCCTTAGAGAGCTTCTGGTTTCATTGTATAGTCCTAACACCTGCGTTTTCAAACCTCATCACAGGTAGGGAACCCCAAACTTCATGATGTTGTTTTTGAGACACCAAGGAACTAGAAACCACCTAGAAACAATTTTAGTAGTCAAAAAATTCCTCTCAATAATGAAATTATATTTTATGTTGGAAACATGCAACATAAAAACAGGATAAGGGTATACGTTTAACAAAAATACAGTGTAGACATAAAAGGCTATTTCTGATTTTTTTTCTGAAAATTAGGAGGGAAAAGAAAATCAAAATATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATCTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGAGCAATCTCAGCTCACCGCAACCTCCGCCTCCCAGGATCAAGCGATTCACCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTTGTGCCACCACACCCGGCTAATGTTTGTATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGGGGCGTGATCTCAGCTCACTGCAAACTCCGCCTCCCGGGTTCAAGCCATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCATTGGGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGACTGGTCTCGAACTCCTGACCTTGTGATCTGCCTGCCTTGGCCTCCCTAAGTGCTGGGATTACAGGAGTGAGCCACCGCGCCCAGCCTATTTTTATTTTTATTTGTTAATTCTACCAGCTAGAAGTAAAGTCTGAGCACCACTGTCTTCTCATTTCTTCATTTTAGAGACCTCTCCCCTCACCCCAGGCAGCTATCCATTGTTCAACTCCTGCTACCATCTCCATTTCCACCCTTCTCACCCACTTCCTCTATTTCCCCATATCAACGGTGCCAAGTGGCTTAACATCATTTTGAAAGAAGTGGAAACTGAATTGTCAATCAAGTGATCATGAAGAGGTTAACCAATAAAGGCTTGCGGACAATTTTCAAGGATATCTGCAAGCCTGAAAACCCTGTCAAAACGACTAATGTAACTTTCAAGGAAAAAAGAAAGAATATACTGATACAGAGTGAGCATATAGAAGTTCCCATTTCTTTACCTGCTCACTATTCTTCAGAGAAAGGATGAAGCTGTGGCTCAGGGTTTCCAGGTGGGCAAGTGATTTCTCCAGATGATTCAAAGTATCTGCATAGGTAACTTTAGAATCCTTAGCTTCTTGAGCTTCGTCTTCTGAGTTTCTTTTCCTTGGCTTCTCAATAAAATGTTTGACTGTCTTAATAGCCTTTCTAGTCATCTCTTTACGGGCTTCCACAGACAGCTTAAAAAAAAGAATAGTGAGACCAAAGAACCCTGCATTATTACCTATTGCATATTCAGCAAGTGTTAATGAGTTAGAACAAAAGTGAAATTTTTGTATATATGATTTTAACCAATAAATAGCACTTGTTATACTAGTTTTTCTTCTGTGAAGAAAACAAAAAGTGAGGTGCCATTTGCATCATTAAACTAGTAATTAAGATTTTTAAAAATGTTAATATCCAAAGCAGGTAAAGTGATGAAACTAGTATTCACACTGACTGCCAGTTACAGTGCAAAAATGAGGAGTCATTTCTACAGCCATATTCCCAGTTCTGATCACTTATTATAAGAAAAAAATTCCAAAGAAGAAAATAAATACAGGCATAAAGATTTTAACTGGAATAAGACTATTAATATAACCTCAAAAGTAATCTAATTGATAGAAGAAATGATAACTAGCTTATTTTAAATTACAGGCTGGAATATTATGTAGTCATTAAAATTAGAATTATAAAAACAGTATCCAAACATTTTGGAATATGTTTGTCATAGAATGTTAAAACTTAGAAATCAGAATATAAAACTCTCTAGATAATGTTTACATTAAACTTCAAACTATATCTGCATATACAATATATGTATTTTATGTATTTTCTATTTTATGTGTGTGTGTATGTGTGCATTTATATATTTTCTATTTTATGTGTGTGTGTATGTGTGCGTGTGTGTGTGTGTATATATATATATATATATGTTGAGTATTGCTTATCTGAAATGTTTGGAACCAGAAGTATTTTAGATTTCAGATTTTTTTTGGATTTTGGAATACTTGCTAATTTAGCATCCCTAATTCAAAAGGCTGAAATCCAAAATGCTCCAATAAGCATTTCCTTTGAGCATCATGTTGGCACTAAAAAAGTTTCAGATATTGGAGCATTTCAGATTCCTAGATTCAGGAAATTCAACCTGTACATGCATATAAAGTATATGTATGTATAAAAATATAAGAAATATGTATTCAGACATATGCATATACATATATATATATTATTAAGGTGTTAGGATTATGAGCTATTTTTTTTTCTTTCCTTCTTTCCAAAGATTCGAAACATCGTTTTCACCCATTTATTCAGTGACACGCATCAGATTCCTGTATACTGTGTTAGATATATGGGAGTTATATTTTTCTAATTAATAAAATACTATCCTCAAGAATGTGCAGGAGTTATATTTTTCTAATATTAAAATATTAAGCTCTTAGCCTCAAGAATACAAAACTAAGTCTAAACTTTGTGCTTTGTTGATGGAGGAAGCAGACGCCTCTGAGAGATCCTAGCGCCTTCTCAGGCCTCACTGATTTGTGCTGCTTTGGATCCTGGGCTGTAGTCTTCTGTCAGCTACTCAAGTACATTTTTACTATATCCTCAAAAGGACGTGTTGATTTTTTTGTTTTAATAAAAAGAGATAAAGACTCCTACGACAGACTCTCATTTTTTTTCTACTTCCTAAAAGCAGTCATTGTACATGTCTGGTCATTCTGAAAAGCAGGACTAGGCTGAAATACATGGCATGAGTGACCACACCAGGAGGTAAGCTGCCCCCAGACCCTTCCTTTCCTACTAGCTCCCTCCAAGTCACTCAACAGAGTTATGACTTTAAAATGCTGACAGGACGCCTGTCATCCCAGGACTTTGGGAGGCCAAGATGGATGGATCACGAGGTCAGGTGATCGAGACAATCCGGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGCGGCAGGAGAATGGCGTGAACCCGGCAGGCGGAGGCTGCAGTGAGCCGAGATCGCACCGCTGCACTCCAGACTGGGAGACAAAGTGAGACTCCGTCTCAAAAAACAAACAAAAAAAATGCTGACAGGGGACATTTTCCTAATCCTATATAAATATTGATAAAAGAGATCTTTAGGAAAGTACTATTTCCAATGAAATTG
ATATAAGTTTAAAATAATTTTAGATGTGTTTATTTAAAAATAAGTACTTAAAAATTTATAAGTATAGATCACTTTTCCTTGAAGATTGTAATTTTACTCTACTTCTCCTAATTATGAACTGTAGTACTGTAAATGTTAGTAGGATAAAATCAAGATTGGTAAAGCCAATTTGTTTCCTGCAAAGCCTTCTATATTGTTCATACCATTATTTAACATTATTCATTAGACAGAAAAATAGGCATTCCAAAACACAAAATGAATAAAATTTCTTTCAAAATTTTAAGTTCTTCCCATTATCTTTTCAATGGGGGCTTTGCATTTATGTCTTGTACAAATTTTGAAGTCTCCCATTTGCTCATTACCTGAAGTCTCCACTGACTGATCTTTCTAGCCATTCTACAAGGCAAGAATACAATTCAATAAATGTGTAAGGTTTAAGAAAAATAAAAGAGGAGGTTAACGGCCACTTACAAGGTTCATTTACCATAGTATTATAGGGCAAATGGAATATTATTCATATATATAAGCACTGTTTTCACTTACATGGAAATCATTTATTTATTGATTTGTCAACTTTCCAGTTATAGAAAAAATTATCTCAACTCCCACAATTGTTAAAATATAGAACAAAATCTCTAAGGGCCTTAGAGAGCTTCTGGTTTCATTGTATAGTCCTAACACCTGCGTTTTCAAACCTCATCACAGGTAGGGAACCCCAAACTTCATGATGTTGTTTTTGAGACACCAAGGAACTAGAAACCACCTAGAAACAATTTTAGTAGTCAAAAAATTCCTCTCAATAATGAAATTATATTTTATGTTGGAAACATGCAACATAAAAACAGGATAAGGGTATACGTTTAACAAAAATACAGTGTAGACATAAAAGGCTATTTCTGATTTTTTTTCTGAAAATTAGGAGGGAAAAGAAAATCAAAATATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATCTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGAGCAATCTCAGCTCACCGCAACCTCCGCCTCCCAGGATCAAGCGATTCACCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTTGTGCCACCACACCCGGCTAATGTTTGTATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGGGGCGTGATCTCAGCTCACTGCAAACTCCGCCTCCCGGGTTCAAGCCATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCATTGGGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGACTGGTCTCGAACTCCTGACCTTGTGATCTGCCTGCCTTGGCCTCCCTAAGTGCTGGGATTACAGGAGTGAGCCACCGCGCCCAGCCTATTTTTATTTTTATTTGTTAATTCTACCAGCTAGAAGTAAAGTCTGAGCACCACTGTCTTCTCATTTCTTCATTTTAGAGACCTCTCCCCTCACCCCAGGCAGCTATCCATTGTTCAACTCCTGCTACCATCTCCATTTCCACCCTTCTCACCCACTTCCTCTATTTCCCCATATCAACGGTGCCAAGTGGCTTAACATCATTTTGAAAGAAGTGGAAACTGAATTGTCAATCAAGTGATCATGAAGAGGTTAACCAATAAAGGCTTGCGGACAATTTTCAAGGATATCTGCAAGCCTGAAAACCCTGTCAAAACGACTAATGTAACTTTCAAGGAAAAAAGAAAGAATATACTGATACAGAGTGAGCATATAGAAGTTCCCATTTCTTTACCTGCTCACTATTCTTCAGAGAAAGGATGAAGCTGTGGCTCAGGGTTTCCAGGTGGGCAAGTGATTTCTCCAGATGATTCAAAGTATCTGCATAGGTAACTTTAGAATCCTTAGCTTCTTGAGCTTCGTCTTCTGAGTTTCTTTTCCTTGGCTTCTCAATAAAATGTTTGACTGTCTTAATAGCCTTTCTAGTCATCTCTTTATGGGCTTCCACAGACAGCTTAAAAAAAAGAATAGTGAGACCAAAGAACCCTGCATTATTACCTATTGCATATTCAGCAAGTGTTAATGAGTTAGAACAAAAGTGAAATTTTTGTATATATGATTTTAACCAATAAATAGCACTTGTTATACTAGTTTTTCTTCTGTGAAGAAAACAAAAAGTGAGGTGCCATTTGCATCATTAAACTAGTAATTAAGATTTTTAAAAATGTTAATATCCAAAGCAGGTAAAGTGATGAAACTAGTATTCACACTGACTGCCAGTTACAGTGCAAAAATGAGGAGTCATTTCTACAGCCATATTCCCAGTTCTGATCACTTATTATAAGAAAAAAATTCCAAAGAAGAAAATAAATACAGGCATAAAGATTTTAACTGGAATAAGACTATTAATATAACCTCAAAAGTAATCTAATTGATAGAAGAAATGATAACTAGCTTATTTTAAATTACAGGCTGGAATATTATGTAGTCATTAAAATTAGAATTATAAAAACAGTATCCAAACATTTTGGAATATGTTTGTCATAGAATGTTAAAACTTAGAAATCAGAATATAAAACTCTCTAGATAATGTTTACATTAAACTTCAAACTATATCTGCATATACAATATATGTATTTTATGTATTTTCTATTTTATGTGTGTGTGTATGTGTGCATTTATATATTTTCTATTTTATGTGTGTGTGTATGTGTGCGTGTGTGTGTGTGTATATATATATATATATATGTTGAGTATTGCTTATCTGAAATGTTTGGAACCAGAAGTATTTTAGATTTCAGATTTTTTTTGGATTTTGGAATACTTGCTAATTTAGCATCCCTAATTCAAAAGGCTGAAATCCAAAATGCTCCAATAAGCATTTCCTTTGAGCATCATGTTGGCACTAAAAAAGTTTCAGATATTGGAGCATTTCAGATTCCTAGATTCAGGAAATTCAACCTGTACATGCATATAAAGTATATGTATGTATAAAAATATAAGAAATATGTATTCAGACATATGCATATACATATATATATATTATTAAGGTGTTAGGATTATGAGCTATTTTTTTTTCTTTCCTTCTTTCCAAAGATTCGAAACATCGTTTTCACCCATTTATTCAGTGACACGCATCAGATTCCTGTATACTGTGTTAGATATATGGGAGTTATATTTTTCTAATTAATAAAATACTATCCTCAAGAATGTGCAGGAGTTATATTTTTCTAATATTAAAATATTAAGCTCTTAGCCTCAAGAATACAAAACTAAGTCTAAACTTTGTGCTTTGTTGATGGAGGAAGCAGACGCCTCTGAGAGATCCTAGCGCCTTCTCAGGCCTCACTGATTTGTGCTGCTTTGGATCCTGGGCTGTAGTCTTCTGTCAGCTACTCAAGTACATTTTTACTATATCCTCAAAAGGACGTGTTGATTTTTTTGTTTTAATAAAAAGAGATAAAGACTCCTACGACAGACTCTCATTTTTTTTCTACTTCCTAAAAGCAGTCATTGTACATGTCTGGTCATTCTGAAAAGCAGGACTAGGCTGAAATACATGGCATGAGTGACCACACCAGGAGGTAAGCTGCCCCCAGACCCTTCCTTTCCTACTAGCTCCCTCCAAGTCACTCAACAGAGTTATGACTTTAAAATGCTGACAGGACGCCTGTCATCCCAGGACTTTGGGAGGCCAAGATGGATGGATCACGAGGTCAGGTGATCGAGACAATCCGGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGCGGCAGGAGAATGGCGTGAACCCGGCAGGCGGAGGCTGCAGTGAGCCGAGATCGCACCGCTGCACTCCAGACTGGGAGACAAAGTGAGACTCCGTCTCAAAAAACAAACAAAAAAAATGCTGACAGGGGACATTTTCCTAATCCTATATAAATATTGATAAAAGAGATCTTTAGGAAAGTACTATTTCCAATGAAATTG
Task1_train_3117
A variant found in Chromosome 2 affects NBAS (NBAS subunit of NRZ tethering complex). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Infantile liver failure syndrome 2
GTTTCTACTTACATCTGGTTTGGAATGCTGAAATATCTTCAGGGGAAATTTTAAGTCCCCTTTAGCTAAAGTTACTAAATATTCTTTTAATAGCTCATTAGCCACACCAGGCGACTGTTTCTCACAACGATGAAGAAAGGGAACCATCCACTGGTAGGCACTTGTCACATATTTATCCTCAGAACACTGAAAGTACAATCAAGCAAAACAGACAAACAAGAATGAAGTTAAACTAAATGCCTTATTATATCAGACAGCGAGTTCTAAAGCTTACAGGTCCTCAGACTGATGTTAAACAGTGCAAACCCAACACTCTAAAACACACAGTCCAGTTCACCACTCACATGTGGATTGACAGGTAGCAGGAAAATGAATCACCTGCTACTGGGGCTAGTAGAGCTGACAGCAACAATATCACTATGGCTCATCTCTTTACATCATAAGCAATATGGGGTCCCAAGGAGCCTAAGCTCAGCTCTAGAAAACCAACATGCTGCTACTACAACTCAGTCATGAGGTCATCCAGAGCAAAGAGAAGGCATACGCAAAAACAGAGAGAGAGAGAGAGAGAGAGAGTATAAAAAGAGGCAGAGACACACAGAAAAGGAGACCTTAGACCAACAAAGAGTGAATAAAAAAAGTAGAAAGACAGAGATACACAAATAAGCACAGGTTCTAAAATAGGGGCCTCTAGAAAATAGGGTTTCATCTATAAAAGTCAGGAATCTCTCCCTTCTTTTTCCTCTTCCTCTTTGTTTTGCCCCTTTACAACCACCTTTACAAAATTCCAAATGACAGAGATAGTTTTACTCATTATCCCTAAAATTACACAATCGTTTCTCTTAATTATCCCCCAAAAGATACACCTAAAGCTATTAAGAGGAGTCAACATATAACACAAATTAATTTTAATTAGGTAGATTATCAGGAAAAGAAACTAATGAGATAACGGGAAAGTAAAGACAGAGGGAGAGACAAAAGGAAGATAAGCCAGGAGAGGTGGCTCACGCCTATCATCCCAGCACTTTGGGAGGCCTAGGCAGGTAGATCGCCTGAGGTCAGGAGTTCAAGACCAGTGCCTGGCCAACATGGTGAAACCCTATCTCTATTAAAAATGCAAAAATTAGCCTGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTACAGTGAGCCAAGATCACGTCACTGCACTCCAGCCTGGGCCACAGAGTGAGACTCCATCTGAAAAAAAGAAAAAAAAAAAAAAAAGGAAGATAAATATAAGATGGGGGAAAATGTGGAAGGGAAGGAGAGAAAAAGAGTCCAGGGAGGAAAAAGAACCTATCATGCAGTTGTGACTCTGCCCCTTCTTCTGGACCATTCAACCTAAGCTGCCAACAAGCAAAAGACTAGAAAGAGCGTTGGCAGCTACCACCTCCACAGCACCATCCTTCTTGCCTGTTGACTCAGTGGCCGGAGTACAAATAAGGTTCTAATTTTGGGGAGAAAGCACAGAATGATCTAAGAATTACTGGGAAAATTCTCTTAAACATACTAACCCTGAAGCCAAGATGTTTTCTTCAAACAACCACCCGGTCCTCTTAACCCTGATACTTTTTTCCAGTCCTTGAAATACATAAGTAATTGGGAAGTTTAACAAAGTGAAAGGTTAAATACAGGATTACTAGAATCACTAGCTAGTTTAGAAAAACACCTAACTAGAACGGAAAAAAAAAGTTATACAGATGGGTCTGAGTAAAGGGCAAGCAAGGTATAAACACAACCAAAATAGTTTTATATGTGTTTAGTAAGTTATGCATAATATTTTACTGTGAAAAAAGTCAATCTTTATTTACTAACTTCTCAGGTCTGTAGAACATTTCATCTTTGGTTTGAGACACATATGTATCAAAGTGCATAGAAAATGCTTTAAAATATTTAAAAAGGAAGTTAAAATAAAACCTACACTATTCATCAGTAATCTTAGTTTTTCAATGTCTTTCATCTGCTGGAGTTCTTTCAGGGTTAGAGTTACATCACACCTGGCTTCATAAACCAATGTTTCCAGAGTAACCAAATTGTCACAGAGAACCAGCAAACCAGGAATATTCCGCTCCATCCCAAGTCGAATAAGTGACAATGCACAGTCCACCTAAAATTGAAAAGCAACAATAAGTTCCTGAGTATTATATATTTCTCATCTATTCTAAAGTAAAAGTCTCCAGTACAGAATCTAATTCTTATAATCATTTTTTATAAAATTGCATTACCAGTAACATACGTTTTTTATTTACTGCAAAAACATCAGAGTCCTTTATCAAATACATCAGCATCAAACTGTTTCAAAGGAATCAAACAATCAGCAAGAAATACGGAAGAGAAAGACAACCAACCTATTATAAATTTGTAGAGCGTTACAGTTCACAATGCAGCTTTACATATTTCTTTTAATTCTTACAACATTATATTTACATAATAAGAGAAAAAACACATACCTACTAATGATAATGTCAAAATAACCTTATTTTTACTATTACCACTCTGCTTCCAAAAAGAATGTTTGTTTTGAAGGTTTTACTTTTATATTCCTGTATAGTATCTATCCTTTCACACTGCCTTTCCATATAAAAGTCATTCAATAAATATTTGCTGAATAACTATGTTACAAACACTTTCTTGGTCTCAGTTCAAATATTTAGCCTTCAAAAGACAAAAACACAGACTGATATTCCTGAAGATGCTCAGGAAACAGCCATTTGACCCCTATTTCCTGGTCAAGTTTATGAACTGATACATTCTCCGAGTGATAGAGAAATGATCTAGTGTAGTCTAAAGCCATTCTCTCTCACACTACTTCTTACTCTCCTATTCCCAATTATTCATGAGGACCTACTAGAAGCTAAGCACCATTCACCATTTGTGTTAGAAATACAAAACTGAGTAAGATGAGGTCTCTTCCTTCAAAGATCTCTCAGCCTTGTAAGAAAAGACAACCACAATGACTGAAGCAGAGTGCAGTGAGTGCTGTGTATGATGCGGATCCCACAGAAGACAGTACTTAGCCAGCCTGAGAGGGTCCCAGAGGAGGGAACACTTAGCATGGACTCTAAAGAATCAAAGGGTATTTGTGAGGTGAGGAAGGAAGATTATGGGAAGGAGAGCAGCATGGAATGCAGAGATGCATGGTGAGTTGTGAAAGTACAATTCCACGTGACTGAAAAGAAGGTGTGAGGGGCAGCAATGAGAAAGACGGCTAGAGTAGGAGGGACGGGCCGGATCATGAATGCTGTGTGTCAAGCTAAGGAACACGCAGCTGATCAGGAAGGCAGAGGATTTCTGAATGAGACATGTCACAAATAGAGCTACACTTTGGAAGGAATACTAAGTATTTACTGACTGATGAATGAAATGTACATGATGAACTGGAAATGGACTGGAGTGAAAATAGGCAGGCTGGTCAGAAGAATTACAGTTACCAGTATTAGAGAAATTCTGACAGAAACACACTGATTCGCCATTCATTGACTGATTAGTTCACACACTTATTCACAGACAGTAAATACTTGTTGCATATTTCTAATATACTGGGCAAAAATAATAAGGGGCTAAACTATGACAGTATTCCTGAAGACATACAAGAAAAAGAATATAACAGATAATTAAGCAGACAGAATTTGTGAAATTTGGTCAGAGCAGATGAGAAATTTGAGTAAAGAGGAGTCTAGAATGATTTCTCATCTAATCCACAGCAGAAATTCATATTCATACATATATATGTGTGTGTGTGTGTGTGTGTGTGTAGAAGAATACATTTATTAAAAGTAAAAATTGTGTGTGTGTATGAGTGTGTGTGTGTGTGTCTGTGTTAGAGGCAAGGTCTTCCTATACTGCCCAGGTTGGAGTGGAGTGGGTTATTCACAAGTGCAGTCATAGCACATTACAGCCTTGAACTCCTGGGCTCTAGTGATCTTCCCACCTCCGCAACAGAGCAGGTGGGACTAAAGGCGCATGCCACCATGCCATGCCTGGCTTTTAATTCTATATTGACCATGTTGCTTGTGAGGTGCCC
GTTTCTACTTACATCTGGTTTGGAATGCTGAAATATCTTCAGGGGAAATTTTAAGTCCCCTTTAGCTAAAGTTACTAAATATTCTTTTAATAGCTCATTAGCCACACCAGGCGACTGTTTCTCACAACGATGAAGAAAGGGAACCATCCACTGGTAGGCACTTGTCACATATTTATCCTCAGAACACTGAAAGTACAATCAAGCAAAACAGACAAACAAGAATGAAGTTAAACTAAATGCCTTATTATATCAGACAGCGAGTTCTAAAGCTTACAGGTCCTCAGACTGATGTTAAACAGTGCAAACCCAACACTCTAAAACACACAGTCCAGTTCACCACTCACATGTGGATTGACAGGTAGCAGGAAAATGAATCACCTGCTACTGGGGCTAGTAGAGCTGACAGCAACAATATCACTATGGCTCATCTCTTTACATCATAAGCAATATGGGGTCCCAAGGAGCCTAAGCTCAGCTCTAGAAAACCAACATGCTGCTACTACAACTCAGTCATGAGGTCATCCAGAGCAAAGAGAAGGCATACGCAAAAACAGAGAGAGAGAGAGAGAGAGAGAGTATAAAAAGAGGCAGAGACACACAGAAAAGGAGACCTTAGACCAACAAAGAGTGAATAAAAAAAGTAGAAAGACAGAGATACACAAATAAGCACAGGTTCTAAAATAGGGGCCTCTAGAAAATAGGGTTTCATCTATAAAAGTCAGGAATCTCTCCCTTCTTTTTCCTCTTCCTCTTTGTTTTGCCCCTTTACAACCACCTTTACAAAATTCCAAATGACAGAGATAGTTTTACTCATTATCCCTAAAATTACACAATCGTTTCTCTTAATTATCCCCCAAAAGATACACCTAAAGCTATTAAGAGGAGTCAACATATAACACAAATTAATTTTAATTAGGTAGATTATCAGGAAAAGAAACTAATGAGATAACGGGAAAGTAAAGACAGAGGGAGAGACAAAAGGAAGATAAGCCAGGAGAGGTGGCTCACGCCTATCATCCCAGCACTTTGGGAGGCCTAGGCAGGTAGATCGCCTGAGGTCAGGAGTTCAAGACCAGTGCCTGGCCAACATGGTGAAACCCTATCTCTATTAAAAATGCAAAAATTAGCCTGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTACAGTGAGCCAAGATCACGTCACTGCACTCCAGCCTGGGCCACAGAGTGAGACTCCATCTGAAAAAAAGAAAAAAAAAAAAAAAAGGAAGATAAATATAAGATGGGGGAAAATGTGGAAGGGAAGGAGAGAAAAAGAGTCCAGGGAGGAAAAAGAACCTATCATGCAGTTGTGACTCTGCCCCTTCTTCTGGACCATTCAACCTAAGCTGCCAACAAGCAAAAGACTAGAAAGAGCGTTGGCAGCTACCACCTCCACAGCACCATCCTTCTTGCCTGTTGACTCAGTGGCCGGAGTACAAATAAGGTTCTAATTTTGGGGAGAAAGCACAGAATGATCTAAGAATTACTGGGAAAATTCTCTTAAACATACTAACCCTGAAGCCAAGATGTTTTCTTCAAACAACCACCCGGTCCTCTTAACCCTGATACTTTTTTCCAGTCCTTGAAATACATAAGTAATTGGGAAGTTTAACAAAGTGAAAGGTTAAATACAGGATTACTAGAATCACTAGCTAGTTTAGAAAAACACCTAACTAGAACGGAAAAAAAAAGTTATACAGATGGGTCTGAGTAAAGGGCAAGCAAGGTATAAACACAACCAAAATAGTTTTATATGTGTTTAGTAAGTTATGCATAATATTTTACTGTGAAAAAAGTCAATCTTTATTTACTAACTTCTCAGGTCTGTAGAACATTTCATCTTTGGTTTGAGACACATATGTATCAAAGTGCATAGAAAATGCTTTAAAATATTTAAAAAGGAAGTTAAAATAAAACCTACACTATTCATCAGTAATCTTAGTTTTTCAATGTCTTTCATCTGCTGGAGTTCTTTCCGGGTTAGAGTTACATCACACCTGGCTTCATAAACCAATGTTTCCAGAGTAACCAAATTGTCACAGAGAACCAGCAAACCAGGAATATTCCGCTCCATCCCAAGTCGAATAAGTGACAATGCACAGTCCACCTAAAATTGAAAAGCAACAATAAGTTCCTGAGTATTATATATTTCTCATCTATTCTAAAGTAAAAGTCTCCAGTACAGAATCTAATTCTTATAATCATTTTTTATAAAATTGCATTACCAGTAACATACGTTTTTTATTTACTGCAAAAACATCAGAGTCCTTTATCAAATACATCAGCATCAAACTGTTTCAAAGGAATCAAACAATCAGCAAGAAATACGGAAGAGAAAGACAACCAACCTATTATAAATTTGTAGAGCGTTACAGTTCACAATGCAGCTTTACATATTTCTTTTAATTCTTACAACATTATATTTACATAATAAGAGAAAAAACACATACCTACTAATGATAATGTCAAAATAACCTTATTTTTACTATTACCACTCTGCTTCCAAAAAGAATGTTTGTTTTGAAGGTTTTACTTTTATATTCCTGTATAGTATCTATCCTTTCACACTGCCTTTCCATATAAAAGTCATTCAATAAATATTTGCTGAATAACTATGTTACAAACACTTTCTTGGTCTCAGTTCAAATATTTAGCCTTCAAAAGACAAAAACACAGACTGATATTCCTGAAGATGCTCAGGAAACAGCCATTTGACCCCTATTTCCTGGTCAAGTTTATGAACTGATACATTCTCCGAGTGATAGAGAAATGATCTAGTGTAGTCTAAAGCCATTCTCTCTCACACTACTTCTTACTCTCCTATTCCCAATTATTCATGAGGACCTACTAGAAGCTAAGCACCATTCACCATTTGTGTTAGAAATACAAAACTGAGTAAGATGAGGTCTCTTCCTTCAAAGATCTCTCAGCCTTGTAAGAAAAGACAACCACAATGACTGAAGCAGAGTGCAGTGAGTGCTGTGTATGATGCGGATCCCACAGAAGACAGTACTTAGCCAGCCTGAGAGGGTCCCAGAGGAGGGAACACTTAGCATGGACTCTAAAGAATCAAAGGGTATTTGTGAGGTGAGGAAGGAAGATTATGGGAAGGAGAGCAGCATGGAATGCAGAGATGCATGGTGAGTTGTGAAAGTACAATTCCACGTGACTGAAAAGAAGGTGTGAGGGGCAGCAATGAGAAAGACGGCTAGAGTAGGAGGGACGGGCCGGATCATGAATGCTGTGTGTCAAGCTAAGGAACACGCAGCTGATCAGGAAGGCAGAGGATTTCTGAATGAGACATGTCACAAATAGAGCTACACTTTGGAAGGAATACTAAGTATTTACTGACTGATGAATGAAATGTACATGATGAACTGGAAATGGACTGGAGTGAAAATAGGCAGGCTGGTCAGAAGAATTACAGTTACCAGTATTAGAGAAATTCTGACAGAAACACACTGATTCGCCATTCATTGACTGATTAGTTCACACACTTATTCACAGACAGTAAATACTTGTTGCATATTTCTAATATACTGGGCAAAAATAATAAGGGGCTAAACTATGACAGTATTCCTGAAGACATACAAGAAAAAGAATATAACAGATAATTAAGCAGACAGAATTTGTGAAATTTGGTCAGAGCAGATGAGAAATTTGAGTAAAGAGGAGTCTAGAATGATTTCTCATCTAATCCACAGCAGAAATTCATATTCATACATATATATGTGTGTGTGTGTGTGTGTGTGTGTAGAAGAATACATTTATTAAAAGTAAAAATTGTGTGTGTGTATGAGTGTGTGTGTGTGTGTCTGTGTTAGAGGCAAGGTCTTCCTATACTGCCCAGGTTGGAGTGGAGTGGGTTATTCACAAGTGCAGTCATAGCACATTACAGCCTTGAACTCCTGGGCTCTAGTGATCTTCCCACCTCCGCAACAGAGCAGGTGGGACTAAAGGCGCATGCCACCATGCCATGCCTGGCTTTTAATTCTATATTGACCATGTTGCTTGTGAGGTGCCC
Task1_train_3118
This mutation occurs in LOC129933155, NBAS (ATAC-STARR-seq lymphoblastoid active region 15346| NBAS subunit of NRZ tethering complex) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
CCAGTTCAGCATACTCTATTGAGGCTGTAAGTTTTGCTCACAGGAAAAGTGGTCATATCTCCAAGGCCAATTCATTGACTATCTGTTGTGTATCTATACAGACAATGCTACTAACAAAACATACACAGATACGTAATTGCTATATTAAATAATTCCATTCCATAAGTATAGACTGAACACACCGTGGGTAGGTTCATGACGCTAGGCACTGCATAAGATGCACTAAAGTGCTGTCAAGAAAAGCACAATGGACATACAGTAAGTGTAGACAGATTTTTTTAAAAAACACAGAAAAGTTATTTCACTCAATAAACATGAATTGATTGTTGGATTCATGCAAGACACAATTTGGCCCTGGGAAGAGATATAAAGATGAATCAGATGTCTGCCCTCCAAGAGCTTATAATTCAACAGCTGAAATCAACAGAATGCAGAAATCGATAGAATGCAGAAATCAATTGAACTCCCCCACCCCCAACACACAAACACAAAACAAAGTGCTAAGGGTTTCAAAGTAAGTTAATTCTGTGGTTACTTTTTTGGAATCAATTTATGGTAAGCATTCTGAAACATTACTGCAATTAACCAATGAGTGTTAAGGAGTGGAAACTTATCTAACCAGCTGCCTCAGCAACAGCTTCCTAGCTGCATAACCCAAAAAATATTCACATTAAGACAAACTAAGTACTTGAAATTAAACAGTAATATATGCAGATCTCTACCCGTCTACAAAATAAATTATTCATGATAAGCACAAACTGCAGTGGGAAGGAGGCTACAGAGGAAAAAAATACAAACTTTGGGCTGAAAAATGAGTCGTTTCTCCAGCAAAGAAACACTCAGAAAAAATGTAAGATAACTCACATGGGCTGGACTACATAATCTTTAATAAAGGTTCTTTTCGATCTGGCTGCTTCCTCTGGGTCTAAAACAGTAACTGGCACGTGTTAAGCACTCAATAAATATCTGTTAAATAAACATGGATCCAAAAAATAATAATAATAAAAAATAAAATAAAATAAACATGGATCCATGGTTCCTACTCTTCATCACAGACCCGGGAGGCCTTCACTACCAAACAACTGATAATCCCAAGATCCAGTCCATAAATTATCAACCTCTATAACCCTTCTGTAGCGGAGATCCCAATCCCAGTCAGCAGCTCTTTACTCTGCACTTCCGTGGCATTTTGCTCACATCGCTAACTATAGCGCATAAAACGCTAGGTTATGAAAAACGTTTACGGGACTGTCTCCCCTCTAGACGAGAAGCTCCACGAAAACATATTCATCTCTGTATCCTTAGCACCTAGCACAGCACCTGTGACACCGAGACAGACGAACGGACACGCACACCCTTATTAAATGCTCTTTTATTGAAACACACAAGACCTGGCGCGATCCAGCCCCCAGTATGGGTAAAGGCTCAGATTCTGCGCTCTGCACCAGCCTGGCAGATGCTGCAGACTGTAAGGTCCTGGAAAATTCTCCCATCGCAGTTGAGCGTCGGCCCAGACTAGCCCTAGCCAGACCGCGAGAAGGGACCACTGAGGGTCCAGATAGGAGAAAGGACCCTCGAGTCCAGCGCTGTGCCTTCCCCTCCTAATACAGAGAGCGACACTAACAATCCCCTCTCCTCCCAATACAGAGAGCGAAACTGAGAACCAAAGTGGGATCGTACGCTCCCCAGAGCACGAAGTTCCAGCCCCCAACAACCGAATTCTGAGCCCAGGAAGAATCTCAGGGACCACCACCCCACCCCGCCCTAGACCCCCGCTAGCCCAAGGTGCCGTTGCCAAGGCGACCGCACAAGCCAACCGGCCCTAGTCCCCCACCCACCCGTCTCCACTCCCCTACGTGGCTCCTGCTACGTGGCTCTACCCACGAAGCGCCCGCGCCAAGCTGGCTGCTGCTGTAGATGGGCCTGGTTCACCTGTACTTCAGTCTCCGGTGGCCACTCGGTGTTGACCAACAAGTCATAGAGAATCGTCTCCTCCTCACCCTCTGCAGTGCCTGGACTCAAAGCCGGCCCTGACTCGGGGGCCGCCATGTTCGCCGAGGACTCAGGCAGCGGAGGAGTGTCTCTACGGAATCCCTCACAGGACAAGCTTCTCTATCCGCGGCCGCTTTTGTTTCACGGCAAGGAAATGCTAGGTTAACCCTTTTATGAGTAGGAAGGACAGGGACTATTGCTTGTCTTGGGAACGACTTGTGTCCCGGTCCTGATACACTCCTTGTTCATTAATCTACATGAGATCGGCCAAGTCATTGAGCCTCTCTTATAACTCAGTTTCCATAAAACAGAAATGGTAAAGGTACCCCACTGAAATGCTAATGTTCATTTGTATATTCTTTGCCTAACACGTAGAGAGAGTTCAAACAGTGGTTTTAAAATAAACAACTAAAGTTATCCAATGAAAGGTAGCAGAGGAAGGATGCTACAGGAGCTCAGAAAAGGCAACGAAGGCCAGAGTCTGCAGGGATTTCCTGGAGGACGTGGAGCTTGTCCCTGCGTCTTTAACAATAGGCAGAATTTTAATCTACTGGAGAAGCATTTCAAGTAGCGGGAAATGGAATGAGCAGAGACAGAGGCAGAAATACAGAGTTGAAAGAACTCTTTCAACGTGTCGCCAGTGAGTGACGACTTTCTCAGTGTGGGAGTAAAAGAATTTACCAAGACAGTGGTAGATAAAGAAAGACAGATTAAAGAAAGTATGAAAGTTCGTTGCCAGGGAGCAGCGGGCCGACTCAGCAGAGGAGGAGCTCATTGCTAGGAAACAAAGGCTTGTTGAGAATTTTATAGACTGGAACTTGGAGTGATTGATAACACCAGGTAGCAGGGAGTTAACTTGCTTTTTTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGTCAGCTGAAGTGTTTCAGAAATTGAGGCATTTGAAGGTAAGCAGGAAGTTTGTGAGTTAAGTACGTTATCTGGGTAGAAGGGCCATATGTCCTGGGCCATAAAGAAAAGTAGACCTATGGCTTATTTGTTTCTTCCTTTTGTTTATATGTTTTGGACCATGAAGAAAGACAGACGTATAGCTAATTTGCCTTATCTCTTTGTTTTTCCCTGCTCCCACTAGCCTGCCTTTTTTTTTTTCCTAATTAGTACTCAACAAGACGGGTGAATAGAACCCAAGTTGAGAAAGGGTGTAGGGGCAATAAAGTTGAAATAATAGGTTGAGAACCCGCATGGAGGGAGCGAAAAGGTCAACCCCATTTGTTCATTCATTCATTCATTCAACAAATACCTCTTTGTGGACAGTTATAAGCAGAGCCTACTGTAACATGAATGAATATATACTGTACAAAGTATTACACTGTTTCACATCAAAAGAAACACAAATACTGAATATCCCTTGAGATAATTATATTCATGATATCCATCAAGATGCATTAGGCGGTGATGCAATTAAAAGCCTCTGCTGGGAAGCCTCTAACCAGCTCCCATTTCTCTCAAAGTTTAATGACCTCAAAGCCCTACGTCATCTGCCTGCTCCCCTAAATCTCACACCTCATTTCCTGCTCCCCCTACTACCTTCAGCCACACTGGCTCTATTTCTGAACACACCAGACACACATCAACTTCAGGAGTTCTGCAAAGCCTGTCCCCTCCACTTGGAAGGCTTTCTACCAGATGTTTACCTGGTTCCTCCCTTATCTCCTTCAAGTTTTTGCTCAAATGTCGTCTCTCTCTGAAGCCTACCTTGACTGCTCATTTTTAAATTTGCAATGACCATTCTCCAACTCCAGCTTTCCAGAGCTGCTCTATTATTTTTTCCATTACACTTGTCATCACTTAAATGGCTATACAGTATATTTGCTTATTATCTGTCTCCATTCACTAAAAGGTAAGCCATGCCAGGTGCTCTATCTATATGCATGCAAATGCTATATCCATCCCTGCTATATCCCCAGAATTTATAACAGTGCCTGGCATAGAGCAGAGGACAAAATATATATTATTTGTTGAATAAATGACAGACTTCCCAGAAAATCTTTTACACATTGTCTCCCCATAGTATTTCTCTGCATAGCAGCTGTGCCCTTCAATCAAACCCCTCAT
CCAGTTCAGCATACTCTATTGAGGCTGTAAGTTTTGCTCACAGGAAAAGTGGTCATATCTCCAAGGCCAATTCATTGACTATCTGTTGTGTATCTATACAGACAATGCTACTAACAAAACATACACAGATACGTAATTGCTATATTAAATAATTCCATTCCATAAGTATAGACTGAACACACCGTGGGTAGGTTCATGACGCTAGGCACTGCATAAGATGCACTAAAGTGCTGTCAAGAAAAGCACAATGGACATACAGTAAGTGTAGACAGATTTTTTTAAAAAACACAGAAAAGTTATTTCACTCAATAAACATGAATTGATTGTTGGATTCATGCAAGACACAATTTGGCCCTGGGAAGAGATATAAAGATGAATCAGATGTCTGCCCTCCAAGAGCTTATAATTCAACAGCTGAAATCAACAGAATGCAGAAATCGATAGAATGCAGAAATCAATTGAACTCCCCCACCCCCAACACACAAACACAAAACAAAGTGCTAAGGGTTTCAAAGTAAGTTAATTCTGTGGTTACTTTTTTGGAATCAATTTATGGTAAGCATTCTGAAACATTACTGCAATTAACCAATGAGTGTTAAGGAGTGGAAACTTATCTAACCAGCTGCCTCAGCAACAGCTTCCTAGCTGCATAACCCAAAAAATATTCACATTAAGACAAACTAAGTACTTGAAATTAAACAGTAATATATGCAGATCTCTACCCGTCTACAAAATAAATTATTCATGATAAGCACAAACTGCAGTGGGAAGGAGGCTACAGAGGAAAAAAATACAAACTTTGGGCTGAAAAATGAGTCGTTTCTCCAGCAAAGAAACACTCAGAAAAAATGTAAGATAACTCACATGGGCTGGACTACATAATCTTTAATAAAGGTTCTTTTCGATCTGGCTGCTTCCTCTGGGTCTAAAACAGTAACTGGCACGTGTTAAGCACTCAATAAATATCTGTTAAATAAACATGGATCCAAAAAATAATAATAATAAAAAATAAAATAAAATAAACATGGATCCATGGTTCCTACTCTTCATCACAGACCCGGGAGGCCTTCACTACCAAACAACTGATAATCCCAAGATCCAGTCCATAAATTATCAACCTCTATAACCCTTCTGTAGCGGAGATCCCAATCCCAGTCAGCAGCTCTTTACTCTGCACTTCCGTGGCATTTTGCTCACATCGCTAACTATAGCGCATAAAACGCTAGGTTATGAAAAACGTTTACGGGACTGTCTCCCCTCTAGACGAGAAGCTCCACGAAAACATATTCATCTCTGTATCCTTAGCACCTAGCACAGCACCTGTGACACCGAGACAGACGAACGGACACGCACACCCTTATTAAATGCTCTTTTATTGAAACACACAAGACCTGGCGCGATCCAGCCCCCAGTATGGGTAAAGGCTCAGATTCTGCGCTCTGCACCAGCCTGGCAGATGCTGCAGACTGTAAGGTCCTGGAAAATTCTCCCATCGCAGTTGAGCGTCGGCCCAGACTAGCCCTAGCCAGACCGCGAGAAGGGACCACTGAGGGTCCAGATAGGAGAAAGGACCCTCGAGTCCAGCGCTGTGCCTTCCCCTCCTAATACAGAGAGCGACACTAACAATCCCCTCTCCTCCCAATACAGAGAGCGAAACTGAGAACCAAAGTGGGATCGTACGCTCCCCAGAGCACGAAGTTCCAGCCCCCAACAACCGAATTCTGAGCCCAGGAAGAATCTCAGGGACCACCACCCCACCCCGCCCTAGACCCCCGCTAGCCCAAGGTGCCGTTGCCAAGGCGACCGCACAAGCCAACCGGCCCTAGTCCCCCACCCACCCGTCTCCACTCCCCTACGTGGCTCCTGCTACGTGGCTCTACCCACGAAGCGCCCGCGCCAAGCTGGCTGCTGCTGTAGATGGGCCTGGTTCACCTGTACTTCAGTCTCCGGTGGCCACTCGGTGTTGACCAACAAGTCATAGAGAATCGTCTCCTCCTCACCCTCTGCAGTGCCTGGACTCAAAGCCGGCCCTGACTCGGGGGCCGCCAGGTTCGCCGAGGACTCAGGCAGCGGAGGAGTGTCTCTACGGAATCCCTCACAGGACAAGCTTCTCTATCCGCGGCCGCTTTTGTTTCACGGCAAGGAAATGCTAGGTTAACCCTTTTATGAGTAGGAAGGACAGGGACTATTGCTTGTCTTGGGAACGACTTGTGTCCCGGTCCTGATACACTCCTTGTTCATTAATCTACATGAGATCGGCCAAGTCATTGAGCCTCTCTTATAACTCAGTTTCCATAAAACAGAAATGGTAAAGGTACCCCACTGAAATGCTAATGTTCATTTGTATATTCTTTGCCTAACACGTAGAGAGAGTTCAAACAGTGGTTTTAAAATAAACAACTAAAGTTATCCAATGAAAGGTAGCAGAGGAAGGATGCTACAGGAGCTCAGAAAAGGCAACGAAGGCCAGAGTCTGCAGGGATTTCCTGGAGGACGTGGAGCTTGTCCCTGCGTCTTTAACAATAGGCAGAATTTTAATCTACTGGAGAAGCATTTCAAGTAGCGGGAAATGGAATGAGCAGAGACAGAGGCAGAAATACAGAGTTGAAAGAACTCTTTCAACGTGTCGCCAGTGAGTGACGACTTTCTCAGTGTGGGAGTAAAAGAATTTACCAAGACAGTGGTAGATAAAGAAAGACAGATTAAAGAAAGTATGAAAGTTCGTTGCCAGGGAGCAGCGGGCCGACTCAGCAGAGGAGGAGCTCATTGCTAGGAAACAAAGGCTTGTTGAGAATTTTATAGACTGGAACTTGGAGTGATTGATAACACCAGGTAGCAGGGAGTTAACTTGCTTTTTTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGTCAGCTGAAGTGTTTCAGAAATTGAGGCATTTGAAGGTAAGCAGGAAGTTTGTGAGTTAAGTACGTTATCTGGGTAGAAGGGCCATATGTCCTGGGCCATAAAGAAAAGTAGACCTATGGCTTATTTGTTTCTTCCTTTTGTTTATATGTTTTGGACCATGAAGAAAGACAGACGTATAGCTAATTTGCCTTATCTCTTTGTTTTTCCCTGCTCCCACTAGCCTGCCTTTTTTTTTTTCCTAATTAGTACTCAACAAGACGGGTGAATAGAACCCAAGTTGAGAAAGGGTGTAGGGGCAATAAAGTTGAAATAATAGGTTGAGAACCCGCATGGAGGGAGCGAAAAGGTCAACCCCATTTGTTCATTCATTCATTCATTCAACAAATACCTCTTTGTGGACAGTTATAAGCAGAGCCTACTGTAACATGAATGAATATATACTGTACAAAGTATTACACTGTTTCACATCAAAAGAAACACAAATACTGAATATCCCTTGAGATAATTATATTCATGATATCCATCAAGATGCATTAGGCGGTGATGCAATTAAAAGCCTCTGCTGGGAAGCCTCTAACCAGCTCCCATTTCTCTCAAAGTTTAATGACCTCAAAGCCCTACGTCATCTGCCTGCTCCCCTAAATCTCACACCTCATTTCCTGCTCCCCCTACTACCTTCAGCCACACTGGCTCTATTTCTGAACACACCAGACACACATCAACTTCAGGAGTTCTGCAAAGCCTGTCCCCTCCACTTGGAAGGCTTTCTACCAGATGTTTACCTGGTTCCTCCCTTATCTCCTTCAAGTTTTTGCTCAAATGTCGTCTCTCTCTGAAGCCTACCTTGACTGCTCATTTTTAAATTTGCAATGACCATTCTCCAACTCCAGCTTTCCAGAGCTGCTCTATTATTTTTTCCATTACACTTGTCATCACTTAAATGGCTATACAGTATATTTGCTTATTATCTGTCTCCATTCACTAAAAGGTAAGCCATGCCAGGTGCTCTATCTATATGCATGCAAATGCTATATCCATCCCTGCTATATCCCCAGAATTTATAACAGTGCCTGGCATAGAGCAGAGGACAAAATATATATTATTTGTTGAATAAATGACAGACTTCCCAGAAAATCTTTTACACATTGTCTCCCCATAGTATTTCTCTGCATAGCAGCTGTGCCCTTCAATCAAACCCCTCAT
Task1_train_3119
This variant impacts the gene LOC129933155, NBAS (ATAC-STARR-seq lymphoblastoid active region 15346| NBAS subunit of NRZ tethering complex) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
Pathogenic; Infantile liver failure syndrome 2
CCAGTTCAGCATACTCTATTGAGGCTGTAAGTTTTGCTCACAGGAAAAGTGGTCATATCTCCAAGGCCAATTCATTGACTATCTGTTGTGTATCTATACAGACAATGCTACTAACAAAACATACACAGATACGTAATTGCTATATTAAATAATTCCATTCCATAAGTATAGACTGAACACACCGTGGGTAGGTTCATGACGCTAGGCACTGCATAAGATGCACTAAAGTGCTGTCAAGAAAAGCACAATGGACATACAGTAAGTGTAGACAGATTTTTTTAAAAAACACAGAAAAGTTATTTCACTCAATAAACATGAATTGATTGTTGGATTCATGCAAGACACAATTTGGCCCTGGGAAGAGATATAAAGATGAATCAGATGTCTGCCCTCCAAGAGCTTATAATTCAACAGCTGAAATCAACAGAATGCAGAAATCGATAGAATGCAGAAATCAATTGAACTCCCCCACCCCCAACACACAAACACAAAACAAAGTGCTAAGGGTTTCAAAGTAAGTTAATTCTGTGGTTACTTTTTTGGAATCAATTTATGGTAAGCATTCTGAAACATTACTGCAATTAACCAATGAGTGTTAAGGAGTGGAAACTTATCTAACCAGCTGCCTCAGCAACAGCTTCCTAGCTGCATAACCCAAAAAATATTCACATTAAGACAAACTAAGTACTTGAAATTAAACAGTAATATATGCAGATCTCTACCCGTCTACAAAATAAATTATTCATGATAAGCACAAACTGCAGTGGGAAGGAGGCTACAGAGGAAAAAAATACAAACTTTGGGCTGAAAAATGAGTCGTTTCTCCAGCAAAGAAACACTCAGAAAAAATGTAAGATAACTCACATGGGCTGGACTACATAATCTTTAATAAAGGTTCTTTTCGATCTGGCTGCTTCCTCTGGGTCTAAAACAGTAACTGGCACGTGTTAAGCACTCAATAAATATCTGTTAAATAAACATGGATCCAAAAAATAATAATAATAAAAAATAAAATAAAATAAACATGGATCCATGGTTCCTACTCTTCATCACAGACCCGGGAGGCCTTCACTACCAAACAACTGATAATCCCAAGATCCAGTCCATAAATTATCAACCTCTATAACCCTTCTGTAGCGGAGATCCCAATCCCAGTCAGCAGCTCTTTACTCTGCACTTCCGTGGCATTTTGCTCACATCGCTAACTATAGCGCATAAAACGCTAGGTTATGAAAAACGTTTACGGGACTGTCTCCCCTCTAGACGAGAAGCTCCACGAAAACATATTCATCTCTGTATCCTTAGCACCTAGCACAGCACCTGTGACACCGAGACAGACGAACGGACACGCACACCCTTATTAAATGCTCTTTTATTGAAACACACAAGACCTGGCGCGATCCAGCCCCCAGTATGGGTAAAGGCTCAGATTCTGCGCTCTGCACCAGCCTGGCAGATGCTGCAGACTGTAAGGTCCTGGAAAATTCTCCCATCGCAGTTGAGCGTCGGCCCAGACTAGCCCTAGCCAGACCGCGAGAAGGGACCACTGAGGGTCCAGATAGGAGAAAGGACCCTCGAGTCCAGCGCTGTGCCTTCCCCTCCTAATACAGAGAGCGACACTAACAATCCCCTCTCCTCCCAATACAGAGAGCGAAACTGAGAACCAAAGTGGGATCGTACGCTCCCCAGAGCACGAAGTTCCAGCCCCCAACAACCGAATTCTGAGCCCAGGAAGAATCTCAGGGACCACCACCCCACCCCGCCCTAGACCCCCGCTAGCCCAAGGTGCCGTTGCCAAGGCGACCGCACAAGCCAACCGGCCCTAGTCCCCCACCCACCCGTCTCCACTCCCCTACGTGGCTCCTGCTACGTGGCTCTACCCACGAAGCGCCCGCGCCAAGCTGGCTGCTGCTGTAGATGGGCCTGGTTCACCTGTACTTCAGTCTCCGGTGGCCACTCGGTGTTGACCAACAAGTCATAGAGAATCGTCTCCTCCTCACCCTCTGCAGTGCCTGGACTCAAAGCCGGCCCTGACTCGGGGGCCGCCATGTTCGCCGAGGACTCAGGCAGCGGAGGAGTGTCTCTACGGAATCCCTCACAGGACAAGCTTCTCTATCCGCGGCCGCTTTTGTTTCACGGCAAGGAAATGCTAGGTTAACCCTTTTATGAGTAGGAAGGACAGGGACTATTGCTTGTCTTGGGAACGACTTGTGTCCCGGTCCTGATACACTCCTTGTTCATTAATCTACATGAGATCGGCCAAGTCATTGAGCCTCTCTTATAACTCAGTTTCCATAAAACAGAAATGGTAAAGGTACCCCACTGAAATGCTAATGTTCATTTGTATATTCTTTGCCTAACACGTAGAGAGAGTTCAAACAGTGGTTTTAAAATAAACAACTAAAGTTATCCAATGAAAGGTAGCAGAGGAAGGATGCTACAGGAGCTCAGAAAAGGCAACGAAGGCCAGAGTCTGCAGGGATTTCCTGGAGGACGTGGAGCTTGTCCCTGCGTCTTTAACAATAGGCAGAATTTTAATCTACTGGAGAAGCATTTCAAGTAGCGGGAAATGGAATGAGCAGAGACAGAGGCAGAAATACAGAGTTGAAAGAACTCTTTCAACGTGTCGCCAGTGAGTGACGACTTTCTCAGTGTGGGAGTAAAAGAATTTACCAAGACAGTGGTAGATAAAGAAAGACAGATTAAAGAAAGTATGAAAGTTCGTTGCCAGGGAGCAGCGGGCCGACTCAGCAGAGGAGGAGCTCATTGCTAGGAAACAAAGGCTTGTTGAGAATTTTATAGACTGGAACTTGGAGTGATTGATAACACCAGGTAGCAGGGAGTTAACTTGCTTTTTTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGTCAGCTGAAGTGTTTCAGAAATTGAGGCATTTGAAGGTAAGCAGGAAGTTTGTGAGTTAAGTACGTTATCTGGGTAGAAGGGCCATATGTCCTGGGCCATAAAGAAAAGTAGACCTATGGCTTATTTGTTTCTTCCTTTTGTTTATATGTTTTGGACCATGAAGAAAGACAGACGTATAGCTAATTTGCCTTATCTCTTTGTTTTTCCCTGCTCCCACTAGCCTGCCTTTTTTTTTTTCCTAATTAGTACTCAACAAGACGGGTGAATAGAACCCAAGTTGAGAAAGGGTGTAGGGGCAATAAAGTTGAAATAATAGGTTGAGAACCCGCATGGAGGGAGCGAAAAGGTCAACCCCATTTGTTCATTCATTCATTCATTCAACAAATACCTCTTTGTGGACAGTTATAAGCAGAGCCTACTGTAACATGAATGAATATATACTGTACAAAGTATTACACTGTTTCACATCAAAAGAAACACAAATACTGAATATCCCTTGAGATAATTATATTCATGATATCCATCAAGATGCATTAGGCGGTGATGCAATTAAAAGCCTCTGCTGGGAAGCCTCTAACCAGCTCCCATTTCTCTCAAAGTTTAATGACCTCAAAGCCCTACGTCATCTGCCTGCTCCCCTAAATCTCACACCTCATTTCCTGCTCCCCCTACTACCTTCAGCCACACTGGCTCTATTTCTGAACACACCAGACACACATCAACTTCAGGAGTTCTGCAAAGCCTGTCCCCTCCACTTGGAAGGCTTTCTACCAGATGTTTACCTGGTTCCTCCCTTATCTCCTTCAAGTTTTTGCTCAAATGTCGTCTCTCTCTGAAGCCTACCTTGACTGCTCATTTTTAAATTTGCAATGACCATTCTCCAACTCCAGCTTTCCAGAGCTGCTCTATTATTTTTTCCATTACACTTGTCATCACTTAAATGGCTATACAGTATATTTGCTTATTATCTGTCTCCATTCACTAAAAGGTAAGCCATGCCAGGTGCTCTATCTATATGCATGCAAATGCTATATCCATCCCTGCTATATCCCCAGAATTTATAACAGTGCCTGGCATAGAGCAGAGGACAAAATATATATTATTTGTTGAATAAATGACAGACTTCCCAGAAAATCTTTTACACATTGTCTCCCCATAGTATTTCTCTGCATAGCAGCTGTGCCCTTCAATCAAACCCCTCAT
CCAGTTCAGCATACTCTATTGAGGCTGTAAGTTTTGCTCACAGGAAAAGTGGTCATATCTCCAAGGCCAATTCATTGACTATCTGTTGTGTATCTATACAGACAATGCTACTAACAAAACATACACAGATACGTAATTGCTATATTAAATAATTCCATTCCATAAGTATAGACTGAACACACCGTGGGTAGGTTCATGACGCTAGGCACTGCATAAGATGCACTAAAGTGCTGTCAAGAAAAGCACAATGGACATACAGTAAGTGTAGACAGATTTTTTTAAAAAACACAGAAAAGTTATTTCACTCAATAAACATGAATTGATTGTTGGATTCATGCAAGACACAATTTGGCCCTGGGAAGAGATATAAAGATGAATCAGATGTCTGCCCTCCAAGAGCTTATAATTCAACAGCTGAAATCAACAGAATGCAGAAATCGATAGAATGCAGAAATCAATTGAACTCCCCCACCCCCAACACACAAACACAAAACAAAGTGCTAAGGGTTTCAAAGTAAGTTAATTCTGTGGTTACTTTTTTGGAATCAATTTATGGTAAGCATTCTGAAACATTACTGCAATTAACCAATGAGTGTTAAGGAGTGGAAACTTATCTAACCAGCTGCCTCAGCAACAGCTTCCTAGCTGCATAACCCAAAAAATATTCACATTAAGACAAACTAAGTACTTGAAATTAAACAGTAATATATGCAGATCTCTACCCGTCTACAAAATAAATTATTCATGATAAGCACAAACTGCAGTGGGAAGGAGGCTACAGAGGAAAAAAATACAAACTTTGGGCTGAAAAATGAGTCGTTTCTCCAGCAAAGAAACACTCAGAAAAAATGTAAGATAACTCACATGGGCTGGACTACATAATCTTTAATAAAGGTTCTTTTCGATCTGGCTGCTTCCTCTGGGTCTAAAACAGTAACTGGCACGTGTTAAGCACTCAATAAATATCTGTTAAATAAACATGGATCCAAAAAATAATAATAATAAAAAATAAAATAAAATAAACATGGATCCATGGTTCCTACTCTTCATCACAGACCCGGGAGGCCTTCACTACCAAACAACTGATAATCCCAAGATCCAGTCCATAAATTATCAACCTCTATAACCCTTCTGTAGCGGAGATCCCAATCCCAGTCAGCAGCTCTTTACTCTGCACTTCCGTGGCATTTTGCTCACATCGCTAACTATAGCGCATAAAACGCTAGGTTATGAAAAACGTTTACGGGACTGTCTCCCCTCTAGACGAGAAGCTCCACGAAAACATATTCATCTCTGTATCCTTAGCACCTAGCACAGCACCTGTGACACCGAGACAGACGAACGGACACGCACACCCTTATTAAATGCTCTTTTATTGAAACACACAAGACCTGGCGCGATCCAGCCCCCAGTATGGGTAAAGGCTCAGATTCTGCGCTCTGCACCAGCCTGGCAGATGCTGCAGACTGTAAGGTCCTGGAAAATTCTCCCATCGCAGTTGAGCGTCGGCCCAGACTAGCCCTAGCCAGACCGCGAGAAGGGACCACTGAGGGTCCAGATAGGAGAAAGGACCCTCGAGTCCAGCGCTGTGCCTTCCCCTCCTAATACAGAGAGCGACACTAACAATCCCCTCTCCTCCCAATACAGAGAGCGAAACTGAGAACCAAAGTGGGATCGTACGCTCCCCAGAGCACGAAGTTCCAGCCCCCAACAACCGAATTCTGAGCCCAGGAAGAATCTCAGGGACCACCACCCCACCCCGCCCTAGACCCCCGCTAGCCCAAGGTGCCGTTGCCAAGGCGACCGCACAAGCCAACCGGCCCTAGTCCCCCACCCACCCGTCTCCACTCCCCTACGTGGCTCCTGCTACGTGGCTCTACCCACGAAGCGCCCGCGCCAAGCTGGCTGCTGCTGTAGATGGGCCTGGTTCACCTGTACTTCAGTCTCCGGTGGCCACTCGGTGTTGACCAACAAGTCATAGAGAATCGTCTCCTCCTCACCCTCTGCAGTGCCTGGACTCAAAGCCGGCCCTGACTCGGGGGCCGCCAGGTTCGCCGAGGACTCAGGCAGCGGAGGAGTGTCTCTACGGAATCCCTCACAGGACAAGCTTCTCTATCCGCGGCCGCTTTTGTTTCACGGCAAGGAAATGCTAGGTTAACCCTTTTATGAGTAGGAAGGACAGGGACTATTGCTTGTCTTGGGAACGACTTGTGTCCCGGTCCTGATACACTCCTTGTTCATTAATCTACATGAGATCGGCCAAGTCATTGAGCCTCTCTTATAACTCAGTTTCCATAAAACAGAAATGGTAAAGGTACCCCACTGAAATGCTAATGTTCATTTGTATATTCTTTGCCTAACACGTAGAGAGAGTTCAAACAGTGGTTTTAAAATAAACAACTAAAGTTATCCAATGAAAGGTAGCAGAGGAAGGATGCTACAGGAGCTCAGAAAAGGCAACGAAGGCCAGAGTCTGCAGGGATTTCCTGGAGGACGTGGAGCTTGTCCCTGCGTCTTTAACAATAGGCAGAATTTTAATCTACTGGAGAAGCATTTCAAGTAGCGGGAAATGGAATGAGCAGAGACAGAGGCAGAAATACAGAGTTGAAAGAACTCTTTCAACGTGTCGCCAGTGAGTGACGACTTTCTCAGTGTGGGAGTAAAAGAATTTACCAAGACAGTGGTAGATAAAGAAAGACAGATTAAAGAAAGTATGAAAGTTCGTTGCCAGGGAGCAGCGGGCCGACTCAGCAGAGGAGGAGCTCATTGCTAGGAAACAAAGGCTTGTTGAGAATTTTATAGACTGGAACTTGGAGTGATTGATAACACCAGGTAGCAGGGAGTTAACTTGCTTTTTTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGTCAGCTGAAGTGTTTCAGAAATTGAGGCATTTGAAGGTAAGCAGGAAGTTTGTGAGTTAAGTACGTTATCTGGGTAGAAGGGCCATATGTCCTGGGCCATAAAGAAAAGTAGACCTATGGCTTATTTGTTTCTTCCTTTTGTTTATATGTTTTGGACCATGAAGAAAGACAGACGTATAGCTAATTTGCCTTATCTCTTTGTTTTTCCCTGCTCCCACTAGCCTGCCTTTTTTTTTTTCCTAATTAGTACTCAACAAGACGGGTGAATAGAACCCAAGTTGAGAAAGGGTGTAGGGGCAATAAAGTTGAAATAATAGGTTGAGAACCCGCATGGAGGGAGCGAAAAGGTCAACCCCATTTGTTCATTCATTCATTCATTCAACAAATACCTCTTTGTGGACAGTTATAAGCAGAGCCTACTGTAACATGAATGAATATATACTGTACAAAGTATTACACTGTTTCACATCAAAAGAAACACAAATACTGAATATCCCTTGAGATAATTATATTCATGATATCCATCAAGATGCATTAGGCGGTGATGCAATTAAAAGCCTCTGCTGGGAAGCCTCTAACCAGCTCCCATTTCTCTCAAAGTTTAATGACCTCAAAGCCCTACGTCATCTGCCTGCTCCCCTAAATCTCACACCTCATTTCCTGCTCCCCCTACTACCTTCAGCCACACTGGCTCTATTTCTGAACACACCAGACACACATCAACTTCAGGAGTTCTGCAAAGCCTGTCCCCTCCACTTGGAAGGCTTTCTACCAGATGTTTACCTGGTTCCTCCCTTATCTCCTTCAAGTTTTTGCTCAAATGTCGTCTCTCTCTGAAGCCTACCTTGACTGCTCATTTTTAAATTTGCAATGACCATTCTCCAACTCCAGCTTTCCAGAGCTGCTCTATTATTTTTTCCATTACACTTGTCATCACTTAAATGGCTATACAGTATATTTGCTTATTATCTGTCTCCATTCACTAAAAGGTAAGCCATGCCAGGTGCTCTATCTATATGCATGCAAATGCTATATCCATCCCTGCTATATCCCCAGAATTTATAACAGTGCCTGGCATAGAGCAGAGGACAAAATATATATTATTTGTTGAATAAATGACAGACTTCCCAGAAAATCTTTTACACATTGTCTCCCCATAGTATTTCTCTGCATAGCAGCTGTGCCCTTCAATCAAACCCCTCAT
Task1_train_3120
A variant affecting Chromosome 2, within the gene MYCN, MYCNOS (MYCN proto-oncogene, bHLH transcription factor| MYCN opposite strand), has been observed. Determine if it's benign or associated with disease.
Pathogenic; MYCN-related disorder
TTTTTTTTCTTTTAATGACAAGCAATTGCCAGGCTCGCAGGGTGGGTGCTGCATTGCACCGCTCCGCGCGCAGCTGGTTCTCAGAGTGCAGCCGGTGCAAGCCCGGGGGTCCAAAAGGGCGGGAGGAGCACACCCTGGGCTTCCCAGCTTTGCAGCCTTCTCTCTGCAAAGAAAAGCAAGTGGCTTTTGGCGCGAAAGCCTTGGCGCCTCCCCTGATTTTTATGGAAATCAGGAGGGCGGGGTAAAGCCGCTTTCCTCTCCTTTCTCCCTCCCCCTTGTCTGCGCCACAGCCCCCTTCTCTCCCCGCCCCCCGGGTGTGTCAGATTTTTCAGTTAATAATATCCCCCGAGCTTCAAAGCGCAGGCTGTGACAGTCATCTGTCTGGACGCGCTGGGTGGATGCGGGGGGCTCCTGGGAACTGTGTTGGAGCCGAGCAAGCGCTAGCCAGGCGCAAGCGCGCACAGACTGTAGCCATCCGAGGACACCCCCGCCCCCCCGGCCCACCCGGAGACACCCGCGCAGAATCGCCTCCGGATCCCCTGCAGTCGGCGGGAGGTAAGGAGCAGGGCTTGCAAACCGCCCGGCGCCCAGGGAAGCGACGAGCGCCGGGGCAAGGCAAGCCCTGGACGGGATTGCGACGTGCGCACCGGGCGCCCTAATATGCCCGGGGGACTGTTTCTGCTTCCGAAACAAAACCATCTCTGGGTTTTCCCAGAAAAGCCAGTTCCAGCCCCGAAGGCATCCTGGCTAGAGGAGACCCGCCCTAATCCTTTTGCAGCCCTTACCGGGGGGAGTAATGGCTTCTGCGAAAAGAAATTCCCTCGGCTCTAGAAGATCTGTCTGTGTTTGAGCTGTCGGAGAGCCGGTGCGTCCCCACCCCAGGCTGGGGTTCTTCTCCAAAGGGTGCCCCTGGAGGAAGAAGAGGGGGGGATTAGGCAGGGCGAGGCCGCCGCGGTCGCAATCTGGGTCACGGCTGCTCCAGCTTGGAGGAGAGGCGGCTCTCCCGGCGACCCTCCTCGCGCGGGCGCCCCTGCCATTCCCGGGAACAGGGGCTCAGCCTCTCCCTCCCTGGAAGAGGACGTTGTCGTGGGTTTGGAAGAGCAGGGGTGGGCTTAGAGAGCTTCCAATTAAGCTATTGGCAGGAGTATCCCTGCAGCGGGTGAATGCCGAGGGGCGTTTGCTCAAATTTGGGGAGGGGAAGGATTTGTGGATATGGGTGTCTGTTGTTGGTCTCTGTCTAGAGAAAGGCTTTTTTTTATTTGCAAAGTTTTCTAAATCCCCTGCTATCATTTGCACTCCTGAGGTTGCATTTTTACAAAGGGGGTAGAAGGTACTCCAAATACCATTCCCGGTAGCTGGGTCGGAGAGCCTGGGGCTTCCCCTGAGCAGCCGGCCCCACACCGCTGCGAGTGCGGTTGTCTGCGTGCTCGTGAGAGCTAGAATTCTGCAGCCAGGAACAGCCCCCTCCCCCAGGCAGTGCCTTGTGTGAATGAAATGGCAGTTTCCAAAGTTGCGGAGCCTCGCCACCACCCCCTGCATCTGCATGCCCCCTCCCACCCCCTGTCGTAGACAGCTTGTACACAAAAGGAGGGCGGGAGGGAGGGAGCGAGAGGCACAACTTCCTCCACCTTCGGGAGCAGTGGGCAGAGTGGGGGGCTTGGAGGGAAGATTGGGGAACCTGGTTAGAGGGGGCGCCCATTGCCTATCCCCTCGGTCTGCCCCGTTTGCCCACCCTCTCCGGTGTGTCTGTCGGTTGCAGTGTTGGAGGTCGGCGCCGGCCCCCGCCTTCCGCGCCCCCCACGGGAAGGAAGCACCCCCGGTATTAAAACGAACGGGGCGGAAAGAAGCCCTCAGTCGCCGGCCGGGAGGCGAGCCGATGCCGAGCTGCTCCACGTCCACCATGCCGGGCATGATCTGCAAGAACCCAGACCTCGAGTTTGACTCGCTACAGCCCTGCTTCTACCCGGACGAAGATGACTTCTACTTCGGCGGCCCCGACTCGACCCCCCCGGGGGAGGACATCTGGAAGAAGTTTGAGCTGCTGCCCACGCCCCCGCTGTCGCCCAGCCGTGGCTTCGCGGAGCACAGCTCCGAGCCCCCGAGCTGGGTCACGGAGATGCTGCTTGAGAACGAGCTGTGGGGCAGCCCGGCCGAGGAGGACGCGTTCGGCCTGGGGGGACTGGGTGGCCTCACCCCCAACCCGGTCATCCTCCAGGACTGCATGTGGAGCGGCTTCTCCGCCCGCGAGAAGCTGGAGCGCGCCGTGAGCGAGAAGCTGCAGCACGGCCGCGGGCCGCCAACCGCCGGTTCCACCGCCCAGTCCCCGGGAGCCGGCGCCGCCAGCCCTGCGGGTCGCGGGCACGGCGGGGCTGCGGGAGCCGGCCGCGCCGGGGCCGCCCTGCCCGCCGAGCTCGCCCACCCGGCCGCCGAGTGCGTGGATCCCGCCGTGGTCTTCCCCTTTCCCGTGAACAAGCGCGAGCCAGCGCCCGTGCCCGCAGCCCCGGCCAGTGCCCCGGCGGCGGGCCCTGCGGTCGCCTCGGGGGCGGGTATTGCCGCCCCAGCCGGGGCCCCGGGGGTCGCCCCTCCGCGCCCAGGCGGCCGCCAGACCAGCGGCGGCGACCACAAGGCCCTCAGTACCTCCGGAGAGGACACCCTGAGCGATTCAGGTAAAGACCGAACTCGGGTCCGGCTGCCTCCCTGGGGCACTGGACCCCGGGTCGCGTCCCCTTTGTTAGTGCTCGTATGTCTTGGCCTGGGGAGCATTTTGGAGGCAGTGCTAGGGGCAGAGAGGTCCTGTTTCCCCCAAGTCTCTCCTCGGGGTAAAGAGAAGGGGCTGAGAGAATGCCGTTGCAAAAGGGGTGCTCTCCAATTCTCGCCTTCACTAAAGTTCCTTCCACCCTCTCCTGGGGAGCCCTCCTCTAGGCCATCACGGGCCCTCACCCGGTCCCCCACCTCTCTTTTGCAGCGCAGTCTGAGGAATAAAATTGGAGAAAGTTGGTGGCTAAACCGGGTGGGGGTTTAGGGGGTTGCTGGGTGCACTGCCTGGACAGAAACCTGTTAGCGCAGGGGTGAAAGGGACTCTCTGGCCCAGGTCAGGGGAGGGAAAGACATCCCGAGAAGATTCAAGGGCTGTGCAAAGCCCTGTTTAAGGCGCAGGAACTTATAGGAGGGTTGCACAGATGGCTAGAGCCGATTTTCTATTCTTTTTCTTTTTCTTTTTTTTTTTTTTTCAAATGTCGGTACCTTTCCCTTCCCCCATCCTCGGTGGGTGGTGGGCTATTTGCTCCTGGTGCGTGGCCAGCAGGCGGCGATATGCGAGGCCAGCAGGCGGGCCCGGGATCTGAAAGGCTGGGGGTGGTGGGGGCACCCTCCCTCCCTCCATTCAGCAGCTGGCTGCAAGTGCAACAGCAGTTGTGTACATTCTCAGGGGGCCTCCTCTTTCCAGTGTGCAGTGGAAACTGGCTGTAGTTTTGTCTTCCAGCCTGAATTCCAGGCCTAATTTGAGATGTGAGTTGTATCTGTAACCCAGTGCCCTTGAAGGTGAGGGCAGGCACTCAGCAGCCTCTCCAGGAAGGCTCACATCCTGGGAGGACTCACTGATTAGTTCTATTGTGTTCATTTGTCTGTGTCTTAAGCTGAAGGGAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAA
TTTTTTTTCTTTTAATGACAAGCAATTGCCAGGCTCGCAGGGTGGGTGCTGCATTGCACCGCTCCGCGCGCAGCTGGTTCTCAGAGTGCAGCCGGTGCAAGCCCGGGGGTCCAAAAGGGCGGGAGGAGCACACCCTGGGCTTCCCAGCTTTGCAGCCTTCTCTCTGCAAAGAAAAGCAAGTGGCTTTTGGCGCGAAAGCCTTGGCGCCTCCCCTGATTTTTATGGAAATCAGGAGGGCGGGGTAAAGCCGCTTTCCTCTCCTTTCTCCCTCCCCCTTGTCTGCGCCACAGCCCCCTTCTCTCCCCGCCCCCCGGGTGTGTCAGATTTTTCAGTTAATAATATCCCCCGAGCTTCAAAGCGCAGGCTGTGACAGTCATCTGTCTGGACGCGCTGGGTGGATGCGGGGGGCTCCTGGGAACTGTGTTGGAGCCGAGCAAGCGCTAGCCAGGCGCAAGCGCGCACAGACTGTAGCCATCCGAGGACACCCCCGCCCCCCCGGCCCACCCGGAGACACCCGCGCAGAATCGCCTCCGGATCCCCTGCAGTCGGCGGGAGGTAAGGAGCAGGGCTTGCAAACCGCCCGGCGCCCAGGGAAGCGACGAGCGCCGGGGCAAGGCAAGCCCTGGACGGGATTGCGACGTGCGCACCGGGCGCCCTAATATGCCCGGGGGACTGTTTCTGCTTCCGAAACAAAACCATCTCTGGGTTTTCCCAGAAAAGCCAGTTCCAGCCCCGAAGGCATCCTGGCTAGAGGAGACCCGCCCTAATCCTTTTGCAGCCCTTACCGGGGGGAGTAATGGCTTCTGCGAAAAGAAATTCCCTCGGCTCTAGAAGATCTGTCTGTGTTTGAGCTGTCGGAGAGCCGGTGCGTCCCCACCCCAGGCTGGGGTTCTTCTCCAAAGGGTGCCCCTGGAGGAAGAAGAGGGGGGGATTAGGCAGGGCGAGGCCGCCGCGGTCGCAATCTGGGTCACGGCTGCTCCAGCTTGGAGGAGAGGCGGCTCTCCCGGCGACCCTCCTCGCGCGGGCGCCCCTGCCATTCCCGGGAACAGGGGCTCAGCCTCTCCCTCCCTGGAAGAGGACGTTGTCGTGGGTTTGGAAGAGCAGGGGTGGGCTTAGAGAGCTTCCAATTAAGCTATTGGCAGGAGTATCCCTGCAGCGGGTGAATGCCGAGGGGCGTTTGCTCAAATTTGGGGAGGGGAAGGATTTGTGGATATGGGTGTCTGTTGTTGGTCTCTGTCTAGAGAAAGGCTTTTTTTTATTTGCAAAGTTTTCTAAATCCCCTGCTATCATTTGCACTCCTGAGGTTGCATTTTTACAAAGGGGGTAGAAGGTACTCCAAATACCATTCCCGGTAGCTGGGTCGGAGAGCCTGGGGCTTCCCCTGAGCAGCCGGCCCCACACCGCTGCGAGTGCGGTTGTCTGCGTGCTCGTGAGAGCTAGAATTCTGCAGCCAGGAACAGCCCCCTCCCCCAGGCAGTGCCTTGTGTGAATGAAATGGCAGTTTCCAAAGTTGCGGAGCCTCGCCACCACCCCCTGCATCTGCATGCCCCCTCCCACCCCCTGTCGTAGACAGCTTGTACACAAAAGGAGGGCGGGAGGGAGGGAGCGAGAGGCACAACTTCCTCCACCTTCGGGAGCAGTGGGCAGAGTGGGGGGCTTGGAGGGAAGATTGGGGAACCTGGTTAGAGGGGGCGCCCATTGCCTATCCCCTCGGTCTGCCCCGTTTGCCCACCCTCTCCGGTGTGTCTGTCGGTTGCAGTGTTGGAGGTCGGCGCCGGCCCCCGCCTTCCGCGCCCCCCACGGGAAGGAAGCACCCCCGGTATTAAAACGAACGGGGCGGAAAGAAGCCCTCAGTCGCCGGCCGGGAGGCGAGCCGATGCCGAGCTGCTCCACGTCCACCATGCCGGGCATGATCTGCAAGAACCCAGACCTCGAGTTTGACTCGCTACAGCCCTGCTTCTACCCGGACGAAGATGACTTCTACTTCGGCGGCCCCGACTCGACCCCCCCGGGGGAGGACATCTGGAAGAAGTTTGAGCTGCTGCCCATGCCCCCGCTGTCGCCCAGCCGTGGCTTCGCGGAGCACAGCTCCGAGCCCCCGAGCTGGGTCACGGAGATGCTGCTTGAGAACGAGCTGTGGGGCAGCCCGGCCGAGGAGGACGCGTTCGGCCTGGGGGGACTGGGTGGCCTCACCCCCAACCCGGTCATCCTCCAGGACTGCATGTGGAGCGGCTTCTCCGCCCGCGAGAAGCTGGAGCGCGCCGTGAGCGAGAAGCTGCAGCACGGCCGCGGGCCGCCAACCGCCGGTTCCACCGCCCAGTCCCCGGGAGCCGGCGCCGCCAGCCCTGCGGGTCGCGGGCACGGCGGGGCTGCGGGAGCCGGCCGCGCCGGGGCCGCCCTGCCCGCCGAGCTCGCCCACCCGGCCGCCGAGTGCGTGGATCCCGCCGTGGTCTTCCCCTTTCCCGTGAACAAGCGCGAGCCAGCGCCCGTGCCCGCAGCCCCGGCCAGTGCCCCGGCGGCGGGCCCTGCGGTCGCCTCGGGGGCGGGTATTGCCGCCCCAGCCGGGGCCCCGGGGGTCGCCCCTCCGCGCCCAGGCGGCCGCCAGACCAGCGGCGGCGACCACAAGGCCCTCAGTACCTCCGGAGAGGACACCCTGAGCGATTCAGGTAAAGACCGAACTCGGGTCCGGCTGCCTCCCTGGGGCACTGGACCCCGGGTCGCGTCCCCTTTGTTAGTGCTCGTATGTCTTGGCCTGGGGAGCATTTTGGAGGCAGTGCTAGGGGCAGAGAGGTCCTGTTTCCCCCAAGTCTCTCCTCGGGGTAAAGAGAAGGGGCTGAGAGAATGCCGTTGCAAAAGGGGTGCTCTCCAATTCTCGCCTTCACTAAAGTTCCTTCCACCCTCTCCTGGGGAGCCCTCCTCTAGGCCATCACGGGCCCTCACCCGGTCCCCCACCTCTCTTTTGCAGCGCAGTCTGAGGAATAAAATTGGAGAAAGTTGGTGGCTAAACCGGGTGGGGGTTTAGGGGGTTGCTGGGTGCACTGCCTGGACAGAAACCTGTTAGCGCAGGGGTGAAAGGGACTCTCTGGCCCAGGTCAGGGGAGGGAAAGACATCCCGAGAAGATTCAAGGGCTGTGCAAAGCCCTGTTTAAGGCGCAGGAACTTATAGGAGGGTTGCACAGATGGCTAGAGCCGATTTTCTATTCTTTTTCTTTTTCTTTTTTTTTTTTTTTCAAATGTCGGTACCTTTCCCTTCCCCCATCCTCGGTGGGTGGTGGGCTATTTGCTCCTGGTGCGTGGCCAGCAGGCGGCGATATGCGAGGCCAGCAGGCGGGCCCGGGATCTGAAAGGCTGGGGGTGGTGGGGGCACCCTCCCTCCCTCCATTCAGCAGCTGGCTGCAAGTGCAACAGCAGTTGTGTACATTCTCAGGGGGCCTCCTCTTTCCAGTGTGCAGTGGAAACTGGCTGTAGTTTTGTCTTCCAGCCTGAATTCCAGGCCTAATTTGAGATGTGAGTTGTATCTGTAACCCAGTGCCCTTGAAGGTGAGGGCAGGCACTCAGCAGCCTCTCCAGGAAGGCTCACATCCTGGGAGGACTCACTGATTAGTTCTATTGTGTTCATTTGTCTGTGTCTTAAGCTGAAGGGAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAA
Task1_train_3121
Given this context: Chromosome 2, gene MYCN, MYCNOS (MYCN proto-oncogene, bHLH transcription factor| MYCN opposite strand) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Megalencephaly-polydactyly syndrome
TTTTTTTTCTTTTAATGACAAGCAATTGCCAGGCTCGCAGGGTGGGTGCTGCATTGCACCGCTCCGCGCGCAGCTGGTTCTCAGAGTGCAGCCGGTGCAAGCCCGGGGGTCCAAAAGGGCGGGAGGAGCACACCCTGGGCTTCCCAGCTTTGCAGCCTTCTCTCTGCAAAGAAAAGCAAGTGGCTTTTGGCGCGAAAGCCTTGGCGCCTCCCCTGATTTTTATGGAAATCAGGAGGGCGGGGTAAAGCCGCTTTCCTCTCCTTTCTCCCTCCCCCTTGTCTGCGCCACAGCCCCCTTCTCTCCCCGCCCCCCGGGTGTGTCAGATTTTTCAGTTAATAATATCCCCCGAGCTTCAAAGCGCAGGCTGTGACAGTCATCTGTCTGGACGCGCTGGGTGGATGCGGGGGGCTCCTGGGAACTGTGTTGGAGCCGAGCAAGCGCTAGCCAGGCGCAAGCGCGCACAGACTGTAGCCATCCGAGGACACCCCCGCCCCCCCGGCCCACCCGGAGACACCCGCGCAGAATCGCCTCCGGATCCCCTGCAGTCGGCGGGAGGTAAGGAGCAGGGCTTGCAAACCGCCCGGCGCCCAGGGAAGCGACGAGCGCCGGGGCAAGGCAAGCCCTGGACGGGATTGCGACGTGCGCACCGGGCGCCCTAATATGCCCGGGGGACTGTTTCTGCTTCCGAAACAAAACCATCTCTGGGTTTTCCCAGAAAAGCCAGTTCCAGCCCCGAAGGCATCCTGGCTAGAGGAGACCCGCCCTAATCCTTTTGCAGCCCTTACCGGGGGGAGTAATGGCTTCTGCGAAAAGAAATTCCCTCGGCTCTAGAAGATCTGTCTGTGTTTGAGCTGTCGGAGAGCCGGTGCGTCCCCACCCCAGGCTGGGGTTCTTCTCCAAAGGGTGCCCCTGGAGGAAGAAGAGGGGGGGATTAGGCAGGGCGAGGCCGCCGCGGTCGCAATCTGGGTCACGGCTGCTCCAGCTTGGAGGAGAGGCGGCTCTCCCGGCGACCCTCCTCGCGCGGGCGCCCCTGCCATTCCCGGGAACAGGGGCTCAGCCTCTCCCTCCCTGGAAGAGGACGTTGTCGTGGGTTTGGAAGAGCAGGGGTGGGCTTAGAGAGCTTCCAATTAAGCTATTGGCAGGAGTATCCCTGCAGCGGGTGAATGCCGAGGGGCGTTTGCTCAAATTTGGGGAGGGGAAGGATTTGTGGATATGGGTGTCTGTTGTTGGTCTCTGTCTAGAGAAAGGCTTTTTTTTATTTGCAAAGTTTTCTAAATCCCCTGCTATCATTTGCACTCCTGAGGTTGCATTTTTACAAAGGGGGTAGAAGGTACTCCAAATACCATTCCCGGTAGCTGGGTCGGAGAGCCTGGGGCTTCCCCTGAGCAGCCGGCCCCACACCGCTGCGAGTGCGGTTGTCTGCGTGCTCGTGAGAGCTAGAATTCTGCAGCCAGGAACAGCCCCCTCCCCCAGGCAGTGCCTTGTGTGAATGAAATGGCAGTTTCCAAAGTTGCGGAGCCTCGCCACCACCCCCTGCATCTGCATGCCCCCTCCCACCCCCTGTCGTAGACAGCTTGTACACAAAAGGAGGGCGGGAGGGAGGGAGCGAGAGGCACAACTTCCTCCACCTTCGGGAGCAGTGGGCAGAGTGGGGGGCTTGGAGGGAAGATTGGGGAACCTGGTTAGAGGGGGCGCCCATTGCCTATCCCCTCGGTCTGCCCCGTTTGCCCACCCTCTCCGGTGTGTCTGTCGGTTGCAGTGTTGGAGGTCGGCGCCGGCCCCCGCCTTCCGCGCCCCCCACGGGAAGGAAGCACCCCCGGTATTAAAACGAACGGGGCGGAAAGAAGCCCTCAGTCGCCGGCCGGGAGGCGAGCCGATGCCGAGCTGCTCCACGTCCACCATGCCGGGCATGATCTGCAAGAACCCAGACCTCGAGTTTGACTCGCTACAGCCCTGCTTCTACCCGGACGAAGATGACTTCTACTTCGGCGGCCCCGACTCGACCCCCCCGGGGGAGGACATCTGGAAGAAGTTTGAGCTGCTGCCCACGCCCCCGCTGTCGCCCAGCCGTGGCTTCGCGGAGCACAGCTCCGAGCCCCCGAGCTGGGTCACGGAGATGCTGCTTGAGAACGAGCTGTGGGGCAGCCCGGCCGAGGAGGACGCGTTCGGCCTGGGGGGACTGGGTGGCCTCACCCCCAACCCGGTCATCCTCCAGGACTGCATGTGGAGCGGCTTCTCCGCCCGCGAGAAGCTGGAGCGCGCCGTGAGCGAGAAGCTGCAGCACGGCCGCGGGCCGCCAACCGCCGGTTCCACCGCCCAGTCCCCGGGAGCCGGCGCCGCCAGCCCTGCGGGTCGCGGGCACGGCGGGGCTGCGGGAGCCGGCCGCGCCGGGGCCGCCCTGCCCGCCGAGCTCGCCCACCCGGCCGCCGAGTGCGTGGATCCCGCCGTGGTCTTCCCCTTTCCCGTGAACAAGCGCGAGCCAGCGCCCGTGCCCGCAGCCCCGGCCAGTGCCCCGGCGGCGGGCCCTGCGGTCGCCTCGGGGGCGGGTATTGCCGCCCCAGCCGGGGCCCCGGGGGTCGCCCCTCCGCGCCCAGGCGGCCGCCAGACCAGCGGCGGCGACCACAAGGCCCTCAGTACCTCCGGAGAGGACACCCTGAGCGATTCAGGTAAAGACCGAACTCGGGTCCGGCTGCCTCCCTGGGGCACTGGACCCCGGGTCGCGTCCCCTTTGTTAGTGCTCGTATGTCTTGGCCTGGGGAGCATTTTGGAGGCAGTGCTAGGGGCAGAGAGGTCCTGTTTCCCCCAAGTCTCTCCTCGGGGTAAAGAGAAGGGGCTGAGAGAATGCCGTTGCAAAAGGGGTGCTCTCCAATTCTCGCCTTCACTAAAGTTCCTTCCACCCTCTCCTGGGGAGCCCTCCTCTAGGCCATCACGGGCCCTCACCCGGTCCCCCACCTCTCTTTTGCAGCGCAGTCTGAGGAATAAAATTGGAGAAAGTTGGTGGCTAAACCGGGTGGGGGTTTAGGGGGTTGCTGGGTGCACTGCCTGGACAGAAACCTGTTAGCGCAGGGGTGAAAGGGACTCTCTGGCCCAGGTCAGGGGAGGGAAAGACATCCCGAGAAGATTCAAGGGCTGTGCAAAGCCCTGTTTAAGGCGCAGGAACTTATAGGAGGGTTGCACAGATGGCTAGAGCCGATTTTCTATTCTTTTTCTTTTTCTTTTTTTTTTTTTTTCAAATGTCGGTACCTTTCCCTTCCCCCATCCTCGGTGGGTGGTGGGCTATTTGCTCCTGGTGCGTGGCCAGCAGGCGGCGATATGCGAGGCCAGCAGGCGGGCCCGGGATCTGAAAGGCTGGGGGTGGTGGGGGCACCCTCCCTCCCTCCATTCAGCAGCTGGCTGCAAGTGCAACAGCAGTTGTGTACATTCTCAGGGGGCCTCCTCTTTCCAGTGTGCAGTGGAAACTGGCTGTAGTTTTGTCTTCCAGCCTGAATTCCAGGCCTAATTTGAGATGTGAGTTGTATCTGTAACCCAGTGCCCTTGAAGGTGAGGGCAGGCACTCAGCAGCCTCTCCAGGAAGGCTCACATCCTGGGAGGACTCACTGATTAGTTCTATTGTGTTCATTTGTCTGTGTCTTAAGCTGAAGGGAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAA
TTTTTTTTCTTTTAATGACAAGCAATTGCCAGGCTCGCAGGGTGGGTGCTGCATTGCACCGCTCCGCGCGCAGCTGGTTCTCAGAGTGCAGCCGGTGCAAGCCCGGGGGTCCAAAAGGGCGGGAGGAGCACACCCTGGGCTTCCCAGCTTTGCAGCCTTCTCTCTGCAAAGAAAAGCAAGTGGCTTTTGGCGCGAAAGCCTTGGCGCCTCCCCTGATTTTTATGGAAATCAGGAGGGCGGGGTAAAGCCGCTTTCCTCTCCTTTCTCCCTCCCCCTTGTCTGCGCCACAGCCCCCTTCTCTCCCCGCCCCCCGGGTGTGTCAGATTTTTCAGTTAATAATATCCCCCGAGCTTCAAAGCGCAGGCTGTGACAGTCATCTGTCTGGACGCGCTGGGTGGATGCGGGGGGCTCCTGGGAACTGTGTTGGAGCCGAGCAAGCGCTAGCCAGGCGCAAGCGCGCACAGACTGTAGCCATCCGAGGACACCCCCGCCCCCCCGGCCCACCCGGAGACACCCGCGCAGAATCGCCTCCGGATCCCCTGCAGTCGGCGGGAGGTAAGGAGCAGGGCTTGCAAACCGCCCGGCGCCCAGGGAAGCGACGAGCGCCGGGGCAAGGCAAGCCCTGGACGGGATTGCGACGTGCGCACCGGGCGCCCTAATATGCCCGGGGGACTGTTTCTGCTTCCGAAACAAAACCATCTCTGGGTTTTCCCAGAAAAGCCAGTTCCAGCCCCGAAGGCATCCTGGCTAGAGGAGACCCGCCCTAATCCTTTTGCAGCCCTTACCGGGGGGAGTAATGGCTTCTGCGAAAAGAAATTCCCTCGGCTCTAGAAGATCTGTCTGTGTTTGAGCTGTCGGAGAGCCGGTGCGTCCCCACCCCAGGCTGGGGTTCTTCTCCAAAGGGTGCCCCTGGAGGAAGAAGAGGGGGGGATTAGGCAGGGCGAGGCCGCCGCGGTCGCAATCTGGGTCACGGCTGCTCCAGCTTGGAGGAGAGGCGGCTCTCCCGGCGACCCTCCTCGCGCGGGCGCCCCTGCCATTCCCGGGAACAGGGGCTCAGCCTCTCCCTCCCTGGAAGAGGACGTTGTCGTGGGTTTGGAAGAGCAGGGGTGGGCTTAGAGAGCTTCCAATTAAGCTATTGGCAGGAGTATCCCTGCAGCGGGTGAATGCCGAGGGGCGTTTGCTCAAATTTGGGGAGGGGAAGGATTTGTGGATATGGGTGTCTGTTGTTGGTCTCTGTCTAGAGAAAGGCTTTTTTTTATTTGCAAAGTTTTCTAAATCCCCTGCTATCATTTGCACTCCTGAGGTTGCATTTTTACAAAGGGGGTAGAAGGTACTCCAAATACCATTCCCGGTAGCTGGGTCGGAGAGCCTGGGGCTTCCCCTGAGCAGCCGGCCCCACACCGCTGCGAGTGCGGTTGTCTGCGTGCTCGTGAGAGCTAGAATTCTGCAGCCAGGAACAGCCCCCTCCCCCAGGCAGTGCCTTGTGTGAATGAAATGGCAGTTTCCAAAGTTGCGGAGCCTCGCCACCACCCCCTGCATCTGCATGCCCCCTCCCACCCCCTGTCGTAGACAGCTTGTACACAAAAGGAGGGCGGGAGGGAGGGAGCGAGAGGCACAACTTCCTCCACCTTCGGGAGCAGTGGGCAGAGTGGGGGGCTTGGAGGGAAGATTGGGGAACCTGGTTAGAGGGGGCGCCCATTGCCTATCCCCTCGGTCTGCCCCGTTTGCCCACCCTCTCCGGTGTGTCTGTCGGTTGCAGTGTTGGAGGTCGGCGCCGGCCCCCGCCTTCCGCGCCCCCCACGGGAAGGAAGCACCCCCGGTATTAAAACGAACGGGGCGGAAAGAAGCCCTCAGTCGCCGGCCGGGAGGCGAGCCGATGCCGAGCTGCTCCACGTCCACCATGCCGGGCATGATCTGCAAGAACCCAGACCTCGAGTTTGACTCGCTACAGCCCTGCTTCTACCCGGACGAAGATGACTTCTACTTCGGCGGCCCCGACTCGACCCCCCCGGGGGAGGACATCTGGAAGAAGTTTGAGCTGCTGCCCATGCCCCCGCTGTCGCCCAGCCGTGGCTTCGCGGAGCACAGCTCCGAGCCCCCGAGCTGGGTCACGGAGATGCTGCTTGAGAACGAGCTGTGGGGCAGCCCGGCCGAGGAGGACGCGTTCGGCCTGGGGGGACTGGGTGGCCTCACCCCCAACCCGGTCATCCTCCAGGACTGCATGTGGAGCGGCTTCTCCGCCCGCGAGAAGCTGGAGCGCGCCGTGAGCGAGAAGCTGCAGCACGGCCGCGGGCCGCCAACCGCCGGTTCCACCGCCCAGTCCCCGGGAGCCGGCGCCGCCAGCCCTGCGGGTCGCGGGCACGGCGGGGCTGCGGGAGCCGGCCGCGCCGGGGCCGCCCTGCCCGCCGAGCTCGCCCACCCGGCCGCCGAGTGCGTGGATCCCGCCGTGGTCTTCCCCTTTCCCGTGAACAAGCGCGAGCCAGCGCCCGTGCCCGCAGCCCCGGCCAGTGCCCCGGCGGCGGGCCCTGCGGTCGCCTCGGGGGCGGGTATTGCCGCCCCAGCCGGGGCCCCGGGGGTCGCCCCTCCGCGCCCAGGCGGCCGCCAGACCAGCGGCGGCGACCACAAGGCCCTCAGTACCTCCGGAGAGGACACCCTGAGCGATTCAGGTAAAGACCGAACTCGGGTCCGGCTGCCTCCCTGGGGCACTGGACCCCGGGTCGCGTCCCCTTTGTTAGTGCTCGTATGTCTTGGCCTGGGGAGCATTTTGGAGGCAGTGCTAGGGGCAGAGAGGTCCTGTTTCCCCCAAGTCTCTCCTCGGGGTAAAGAGAAGGGGCTGAGAGAATGCCGTTGCAAAAGGGGTGCTCTCCAATTCTCGCCTTCACTAAAGTTCCTTCCACCCTCTCCTGGGGAGCCCTCCTCTAGGCCATCACGGGCCCTCACCCGGTCCCCCACCTCTCTTTTGCAGCGCAGTCTGAGGAATAAAATTGGAGAAAGTTGGTGGCTAAACCGGGTGGGGGTTTAGGGGGTTGCTGGGTGCACTGCCTGGACAGAAACCTGTTAGCGCAGGGGTGAAAGGGACTCTCTGGCCCAGGTCAGGGGAGGGAAAGACATCCCGAGAAGATTCAAGGGCTGTGCAAAGCCCTGTTTAAGGCGCAGGAACTTATAGGAGGGTTGCACAGATGGCTAGAGCCGATTTTCTATTCTTTTTCTTTTTCTTTTTTTTTTTTTTTCAAATGTCGGTACCTTTCCCTTCCCCCATCCTCGGTGGGTGGTGGGCTATTTGCTCCTGGTGCGTGGCCAGCAGGCGGCGATATGCGAGGCCAGCAGGCGGGCCCGGGATCTGAAAGGCTGGGGGTGGTGGGGGCACCCTCCCTCCCTCCATTCAGCAGCTGGCTGCAAGTGCAACAGCAGTTGTGTACATTCTCAGGGGGCCTCCTCTTTCCAGTGTGCAGTGGAAACTGGCTGTAGTTTTGTCTTCCAGCCTGAATTCCAGGCCTAATTTGAGATGTGAGTTGTATCTGTAACCCAGTGCCCTTGAAGGTGAGGGCAGGCACTCAGCAGCCTCTCCAGGAAGGCTCACATCCTGGGAGGACTCACTGATTAGTTCTATTGTGTTCATTTGTCTGTGTCTTAAGCTGAAGGGAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAA
Task1_train_3122
This sequence variant lies in MYCN (MYCN proto-oncogene, bHLH transcription factor) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
Pathogenic; not provided
TGTGTTCATTTGTCTGTGTCTTAAGCTGAAGGGAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAATAATTTTCTACCCCAGCGTGGTAGTCAATGAGGAGAGAGGGGAAGAATGCGCACATGATGCTACACGTTTCTGTTGTTGCTGTTATTATTGGTGGCTTTGAGGAGAGCTGCTCCCATTTGGGGGTTTATACCAACTGTGGATTATGGCTTTGTCATTAAGATTTGATCTTTGTTAAATGAAAAACTGTTTATTGTATAAAACTCAGGTTTGTGGACGAAAAGTTGTTTTTTTTCTTCAGTTAATTAAATTGTTCCTCAAGTTTGTTTAAGGACTTAAAATCAAACACAACCATGTGTAAACTGCTAAATGAGGCTCCTAAAATGAGAGGCCTCAACTCTTTAAGTGTGGAGCTAGAAATGTAAATAAGTCCACAGGGCAGACTGGTGATTATGATAAAAGCTACCATTTACTGAGCATCTGTCTACTAGGCTCAGCTCTATGCTAAGTCTACATGTTATCTGTCAAAGTGGTATCATCCCCATTTAATAGCTGAGGAAACAGAGGCTTAGAAAGGCTGGGTAACTTGACCAGGGTCATGCAACTAGTCTGCGGTGGAGCCAGGATTCTGTCTGACCCTAAAGGCCAAGTTCTTTATATTTATTTCTACCACCTGCTAAAGTCTTGAATGGAGGCTGAAAGCACAGTTGGGGTATGGGGAAGAAAAATATATATACATACATATATGTATATGTATGTATGTATGTATGGGGGGTTGTTTTGTTTTTGTTTTTGATAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGAGCATGCCACCACACCCAGCAAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTCATCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCGCGTCCGGCCTACAGATATATTTAATTTAAAGAGATCTAAAACAAATACAAAACTGTCCACATCTATGTTGATGGACCCATAAAAATAGCAGTCTGCCAGGGTCTGCCGGAAGAGACAGATAAGCATACATATTAACATGGATATATATGTGAATTTCATTCAAATGGTTCTCACATGAGAGTAACTAGCATCTTTCTCTCAGATGATGAAGATGATGAAGAGGAAGATGAAGAGGAAGAAATCGACGTGGTCACTGTGGAGAAGCGGCGTTCCTCCTCCAACACCAAGGCTGTCACCACATTCACCATCACTGTGCGTCCCAAGAACGCAGCCCTGGGTCCCGGGAGGGCTCAGTCCAGCGAGCTGATCCTCAAACGATGCCTTCCCATCCACCAGCAGCACAACTATGCCGCCCCCTCTCCCTACGTGGAGAGTGAGGATGCACCCCCACAGAAGAAGATAAAGAGCGAGGCGTCCCCACGTCCGCTCAAGAGTGTCATCCCCCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGTGAGCGTCGCAGAAACCACAACATCCTGGAGCGCCAGCGCCGCAACGACCTTCGGTCCAGCTTTCTCACGCTCAGGGACCACGTGCCGGAGTTGGTAAAGAATGAGAAGGCCGCCAAGGTGGTCATTTTGAAAAAGGCCACTGAGTATGTCCACTCCCTCCAGGCCGAGGAGCACCAGCTTTTGCTGGAAAAGGAAAAATTGCAGGCAAGACAGCAGCAGTTGCTAAAGAAAATTGAACACGCTCGGACTTGCTAGACGCTTCTCAAAACTGGACAGTCACTGCCACTTTGCACATTTTGATTTTTTTTTTAAACAAACATTGTGTTGACATTAAGAATGTTGGTTTACTTTCAAATCGGTCCCCTGTCGAGTTCGGCTCTGGGTGGGCAGTAGGACCACCAGTGTGGGGTTCTGCTGGGACCTTGGAGAGCCTGCATCCCAGGATGCTGGGTGGCCCTGCAGCCTCCTCCACCTCACCTCCATGACAGCGCTAAACGTTGGTGACGGTTGGGAGCCTCTGGGGCTGTTGAAGTCACCTTGTGTGTTCCAAGTTTCCAAACAACAGAAAGTCATTCCTTCTTTTTAAAATGGTGCTTAAGTTCCAGCAGATGCCACATAAGGGGTTTGCCATTTGATACCCCTGGGGAACATTTCTGTAAATACCATTGACACATCCGCCTTTTGTATACATCCTGGGTAATGAGAGGTGGCTTTTGCGGCCAGTATTAGACTGGAAGTTCATACCTAAGTACTGTAATAATACCTCAATGTTTGAGGAGCATGTTTTGTATACAAATATATTGTTAATCTCTGTTATGTACTGTACTAATTCTTACACTGCCTGTATACTTTAGTATGACGCTGATACATAACTAAATTTGATACTTATATTTTCGTATGAAAATGAGTTGTGAAAGTTTTGAGTAGATATTACTTTATCACTTTTTGAACTAAGAAACTTTTGTAAAGAAATTTACTATATATATATGCCTTTTTCCTAGCCTGTTTCTTCCTGTTAATGTATTTGTTCATGTTTGGTGCATAGAACTGGGTAAATGCAAAGTTCTGTGTTTAATTTCTTCAAAATGTATATATTTAGTGCTGCATCTTATAGCACTTTGAAATACCTCATGTTTATGAAAATAAATAGCTTAAAATTAAATGATGCAACTCAACCTTTTCCTTAATGGCATTACACTCTGTCCCTTAAGGAGCAACCATAAATAATCCATAACCTATAGAGGGAATTTGGTTTCCGTAAATAGCCCTTTTTGCACCTGTACAATCCTGGTTGGGGGGCATGAGTCATTGTCCCCACTTAAGGTGGAGGGAACTGAGTTTGGGGAAATTAAGGCAGTTCTCCAAGATTATGCAGAATAGAGATGTTATTAGCGACTATTGTGTGCATTGTAGCAATGGCATTTGATAATTTACAGAGCACTTCTGTATACTGTGGCTCCTTAGTGGAATTAAGCTGAGACCTCAGATCAGTCCCTTTAAAAGAAAAGTAAAAATAGCCACAGGGTTGTTTAACTCGCTTGTATTGGGCTTTGGTAGTATTCGTCCCATTGGCAGACAGTCTTCTATTTTAAGGTAGAGCATAGTTTGTCTCCAAGAATTCATTGTTAAAAACATTCACTAGGATCTGTGGAGGTTCTAGGCTAAGCAGAGTAAGCAGAATAAACAGATGGAAATGGGTTCCTCCCTTCAATGAACTCAACCTGATTCACCAAAGTGTAATTCACGAGTGACAGTTACGTAGTCCAGAGCAAGTACCAGGTGCAGGAGAGACCCTGGGGTCACAATGGAGACCCCATATGGGTGGCATGGCTCTCTACTTGCCATTCCTATTACACAGCAGTGTCTTGGCTACTTGGGCTGCCCTTTGGAAATGGGATCAATCTTGCAGGCTCCAGAAGACAGAGCCAAGACTTGTGTGTTAAGGAGATAGTTTACCTGTTGGGACATAAGAGCCTTGCTTGTAAGCAGCTTCTCAGAACTAAAAGTGTACAAATAACCTATTTCTCTTTTGAGTGTCAGGTTGTACTCGGT
TGTGTTCATTTGTCTGTGTCTTAAGCTGAAGGGAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAATAATTTTCTACCCCAGCGTGGTAGTCAATGAGGAGAGAGGGGAAGAATGCGCACATGATGCTACACGTTTCTGTTGTTGCTGTTATTATTGGTGGCTTTGAGGAGAGCTGCTCCCATTTGGGGGTTTATACCAACTGTGGATTATGGCTTTGTCATTAAGATTTGATCTTTGTTAAATGAAAAACTGTTTATTGTATAAAACTCAGGTTTGTGGACGAAAAGTTGTTTTTTTTCTTCAGTTAATTAAATTGTTCCTCAAGTTTGTTTAAGGACTTAAAATCAAACACAACCATGTGTAAACTGCTAAATGAGGCTCCTAAAATGAGAGGCCTCAACTCTTTAAGTGTGGAGCTAGAAATGTAAATAAGTCCACAGGGCAGACTGGTGATTATGATAAAAGCTACCATTTACTGAGCATCTGTCTACTAGGCTCAGCTCTATGCTAAGTCTACATGTTATCTGTCAAAGTGGTATCATCCCCATTTAATAGCTGAGGAAACAGAGGCTTAGAAAGGCTGGGTAACTTGACCAGGGTCATGCAACTAGTCTGCGGTGGAGCCAGGATTCTGTCTGACCCTAAAGGCCAAGTTCTTTATATTTATTTCTACCACCTGCTAAAGTCTTGAATGGAGGCTGAAAGCACAGTTGGGGTATGGGGAAGAAAAATATATATACATACATATATGTATATGTATGTATGTATGTATGGGGGGTTGTTTTGTTTTTGTTTTTGATAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGAGCATGCCACCACACCCAGCAAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTCATCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCGCGTCCGGCCTACAGATATATTTAATTTAAAGAGATCTAAAACAAATACAAAACTGTCCACATCTATGTTGATGGACCCATAAAAATAGCAGTCTGCCAGGGTCTGCCGGAAGAGACAGATAAGCATACATATTAACATGGATATATATGTGAATTTCATTCAAATGGTTCTCACATGAGAGTAACTAGCATCTTTCTCTCAGATGATGAAGATGATGAAGAGGAAGATGAAGAGGAAGAAATCGACGTGGTCACTGTGGAGAAGCGGCGTTCCTCCTCCAACACCAAGGCTGTCACCACATTCACCATCACTGTGCGTCCCAAGAACGCAGCCCTGGGTCCCGGGAGGGCTCAGTCCAGCGAGCTGATCCTCAAACGATGCCTTCCCATCCACCAGCAGCACAACTATGCCGCCCCCTCTCCCTACGTGGAGAGTGAGGATGCACCCCCACAGAAGAAGATAAAGAGCGAGGCGTCCCCACGTCCGCTCAAGAGTGTCATCCCCCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGTGAGCATCGCAGAAACCACAACATCCTGGAGCGCCAGCGCCGCAACGACCTTCGGTCCAGCTTTCTCACGCTCAGGGACCACGTGCCGGAGTTGGTAAAGAATGAGAAGGCCGCCAAGGTGGTCATTTTGAAAAAGGCCACTGAGTATGTCCACTCCCTCCAGGCCGAGGAGCACCAGCTTTTGCTGGAAAAGGAAAAATTGCAGGCAAGACAGCAGCAGTTGCTAAAGAAAATTGAACACGCTCGGACTTGCTAGACGCTTCTCAAAACTGGACAGTCACTGCCACTTTGCACATTTTGATTTTTTTTTTAAACAAACATTGTGTTGACATTAAGAATGTTGGTTTACTTTCAAATCGGTCCCCTGTCGAGTTCGGCTCTGGGTGGGCAGTAGGACCACCAGTGTGGGGTTCTGCTGGGACCTTGGAGAGCCTGCATCCCAGGATGCTGGGTGGCCCTGCAGCCTCCTCCACCTCACCTCCATGACAGCGCTAAACGTTGGTGACGGTTGGGAGCCTCTGGGGCTGTTGAAGTCACCTTGTGTGTTCCAAGTTTCCAAACAACAGAAAGTCATTCCTTCTTTTTAAAATGGTGCTTAAGTTCCAGCAGATGCCACATAAGGGGTTTGCCATTTGATACCCCTGGGGAACATTTCTGTAAATACCATTGACACATCCGCCTTTTGTATACATCCTGGGTAATGAGAGGTGGCTTTTGCGGCCAGTATTAGACTGGAAGTTCATACCTAAGTACTGTAATAATACCTCAATGTTTGAGGAGCATGTTTTGTATACAAATATATTGTTAATCTCTGTTATGTACTGTACTAATTCTTACACTGCCTGTATACTTTAGTATGACGCTGATACATAACTAAATTTGATACTTATATTTTCGTATGAAAATGAGTTGTGAAAGTTTTGAGTAGATATTACTTTATCACTTTTTGAACTAAGAAACTTTTGTAAAGAAATTTACTATATATATATGCCTTTTTCCTAGCCTGTTTCTTCCTGTTAATGTATTTGTTCATGTTTGGTGCATAGAACTGGGTAAATGCAAAGTTCTGTGTTTAATTTCTTCAAAATGTATATATTTAGTGCTGCATCTTATAGCACTTTGAAATACCTCATGTTTATGAAAATAAATAGCTTAAAATTAAATGATGCAACTCAACCTTTTCCTTAATGGCATTACACTCTGTCCCTTAAGGAGCAACCATAAATAATCCATAACCTATAGAGGGAATTTGGTTTCCGTAAATAGCCCTTTTTGCACCTGTACAATCCTGGTTGGGGGGCATGAGTCATTGTCCCCACTTAAGGTGGAGGGAACTGAGTTTGGGGAAATTAAGGCAGTTCTCCAAGATTATGCAGAATAGAGATGTTATTAGCGACTATTGTGTGCATTGTAGCAATGGCATTTGATAATTTACAGAGCACTTCTGTATACTGTGGCTCCTTAGTGGAATTAAGCTGAGACCTCAGATCAGTCCCTTTAAAAGAAAAGTAAAAATAGCCACAGGGTTGTTTAACTCGCTTGTATTGGGCTTTGGTAGTATTCGTCCCATTGGCAGACAGTCTTCTATTTTAAGGTAGAGCATAGTTTGTCTCCAAGAATTCATTGTTAAAAACATTCACTAGGATCTGTGGAGGTTCTAGGCTAAGCAGAGTAAGCAGAATAAACAGATGGAAATGGGTTCCTCCCTTCAATGAACTCAACCTGATTCACCAAAGTGTAATTCACGAGTGACAGTTACGTAGTCCAGAGCAAGTACCAGGTGCAGGAGAGACCCTGGGGTCACAATGGAGACCCCATATGGGTGGCATGGCTCTCTACTTGCCATTCCTATTACACAGCAGTGTCTTGGCTACTTGGGCTGCCCTTTGGAAATGGGATCAATCTTGCAGGCTCCAGAAGACAGAGCCAAGACTTGTGTGTTAAGGAGATAGTTTACCTGTTGGGACATAAGAGCCTTGCTTGTAAGCAGCTTCTCAGAACTAAAAGTGTACAAATAACCTATTTCTCTTTTGAGTGTCAGGTTGTACTCGGT
Task1_train_3123
This genomic variant is located on Chromosome 2, within the MYCN (MYCN proto-oncogene, bHLH transcription factor) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Feingold syndrome type 1
GAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAATAATTTTCTACCCCAGCGTGGTAGTCAATGAGGAGAGAGGGGAAGAATGCGCACATGATGCTACACGTTTCTGTTGTTGCTGTTATTATTGGTGGCTTTGAGGAGAGCTGCTCCCATTTGGGGGTTTATACCAACTGTGGATTATGGCTTTGTCATTAAGATTTGATCTTTGTTAAATGAAAAACTGTTTATTGTATAAAACTCAGGTTTGTGGACGAAAAGTTGTTTTTTTTCTTCAGTTAATTAAATTGTTCCTCAAGTTTGTTTAAGGACTTAAAATCAAACACAACCATGTGTAAACTGCTAAATGAGGCTCCTAAAATGAGAGGCCTCAACTCTTTAAGTGTGGAGCTAGAAATGTAAATAAGTCCACAGGGCAGACTGGTGATTATGATAAAAGCTACCATTTACTGAGCATCTGTCTACTAGGCTCAGCTCTATGCTAAGTCTACATGTTATCTGTCAAAGTGGTATCATCCCCATTTAATAGCTGAGGAAACAGAGGCTTAGAAAGGCTGGGTAACTTGACCAGGGTCATGCAACTAGTCTGCGGTGGAGCCAGGATTCTGTCTGACCCTAAAGGCCAAGTTCTTTATATTTATTTCTACCACCTGCTAAAGTCTTGAATGGAGGCTGAAAGCACAGTTGGGGTATGGGGAAGAAAAATATATATACATACATATATGTATATGTATGTATGTATGTATGGGGGGTTGTTTTGTTTTTGTTTTTGATAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGAGCATGCCACCACACCCAGCAAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTCATCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCGCGTCCGGCCTACAGATATATTTAATTTAAAGAGATCTAAAACAAATACAAAACTGTCCACATCTATGTTGATGGACCCATAAAAATAGCAGTCTGCCAGGGTCTGCCGGAAGAGACAGATAAGCATACATATTAACATGGATATATATGTGAATTTCATTCAAATGGTTCTCACATGAGAGTAACTAGCATCTTTCTCTCAGATGATGAAGATGATGAAGAGGAAGATGAAGAGGAAGAAATCGACGTGGTCACTGTGGAGAAGCGGCGTTCCTCCTCCAACACCAAGGCTGTCACCACATTCACCATCACTGTGCGTCCCAAGAACGCAGCCCTGGGTCCCGGGAGGGCTCAGTCCAGCGAGCTGATCCTCAAACGATGCCTTCCCATCCACCAGCAGCACAACTATGCCGCCCCCTCTCCCTACGTGGAGAGTGAGGATGCACCCCCACAGAAGAAGATAAAGAGCGAGGCGTCCCCACGTCCGCTCAAGAGTGTCATCCCCCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGTGAGCGTCGCAGAAACCACAACATCCTGGAGCGCCAGCGCCGCAACGACCTTCGGTCCAGCTTTCTCACGCTCAGGGACCACGTGCCGGAGTTGGTAAAGAATGAGAAGGCCGCCAAGGTGGTCATTTTGAAAAAGGCCACTGAGTATGTCCACTCCCTCCAGGCCGAGGAGCACCAGCTTTTGCTGGAAAAGGAAAAATTGCAGGCAAGACAGCAGCAGTTGCTAAAGAAAATTGAACACGCTCGGACTTGCTAGACGCTTCTCAAAACTGGACAGTCACTGCCACTTTGCACATTTTGATTTTTTTTTTAAACAAACATTGTGTTGACATTAAGAATGTTGGTTTACTTTCAAATCGGTCCCCTGTCGAGTTCGGCTCTGGGTGGGCAGTAGGACCACCAGTGTGGGGTTCTGCTGGGACCTTGGAGAGCCTGCATCCCAGGATGCTGGGTGGCCCTGCAGCCTCCTCCACCTCACCTCCATGACAGCGCTAAACGTTGGTGACGGTTGGGAGCCTCTGGGGCTGTTGAAGTCACCTTGTGTGTTCCAAGTTTCCAAACAACAGAAAGTCATTCCTTCTTTTTAAAATGGTGCTTAAGTTCCAGCAGATGCCACATAAGGGGTTTGCCATTTGATACCCCTGGGGAACATTTCTGTAAATACCATTGACACATCCGCCTTTTGTATACATCCTGGGTAATGAGAGGTGGCTTTTGCGGCCAGTATTAGACTGGAAGTTCATACCTAAGTACTGTAATAATACCTCAATGTTTGAGGAGCATGTTTTGTATACAAATATATTGTTAATCTCTGTTATGTACTGTACTAATTCTTACACTGCCTGTATACTTTAGTATGACGCTGATACATAACTAAATTTGATACTTATATTTTCGTATGAAAATGAGTTGTGAAAGTTTTGAGTAGATATTACTTTATCACTTTTTGAACTAAGAAACTTTTGTAAAGAAATTTACTATATATATATGCCTTTTTCCTAGCCTGTTTCTTCCTGTTAATGTATTTGTTCATGTTTGGTGCATAGAACTGGGTAAATGCAAAGTTCTGTGTTTAATTTCTTCAAAATGTATATATTTAGTGCTGCATCTTATAGCACTTTGAAATACCTCATGTTTATGAAAATAAATAGCTTAAAATTAAATGATGCAACTCAACCTTTTCCTTAATGGCATTACACTCTGTCCCTTAAGGAGCAACCATAAATAATCCATAACCTATAGAGGGAATTTGGTTTCCGTAAATAGCCCTTTTTGCACCTGTACAATCCTGGTTGGGGGGCATGAGTCATTGTCCCCACTTAAGGTGGAGGGAACTGAGTTTGGGGAAATTAAGGCAGTTCTCCAAGATTATGCAGAATAGAGATGTTATTAGCGACTATTGTGTGCATTGTAGCAATGGCATTTGATAATTTACAGAGCACTTCTGTATACTGTGGCTCCTTAGTGGAATTAAGCTGAGACCTCAGATCAGTCCCTTTAAAAGAAAAGTAAAAATAGCCACAGGGTTGTTTAACTCGCTTGTATTGGGCTTTGGTAGTATTCGTCCCATTGGCAGACAGTCTTCTATTTTAAGGTAGAGCATAGTTTGTCTCCAAGAATTCATTGTTAAAAACATTCACTAGGATCTGTGGAGGTTCTAGGCTAAGCAGAGTAAGCAGAATAAACAGATGGAAATGGGTTCCTCCCTTCAATGAACTCAACCTGATTCACCAAAGTGTAATTCACGAGTGACAGTTACGTAGTCCAGAGCAAGTACCAGGTGCAGGAGAGACCCTGGGGTCACAATGGAGACCCCATATGGGTGGCATGGCTCTCTACTTGCCATTCCTATTACACAGCAGTGTCTTGGCTACTTGGGCTGCCCTTTGGAAATGGGATCAATCTTGCAGGCTCCAGAAGACAGAGCCAAGACTTGTGTGTTAAGGAGATAGTTTACCTGTTGGGACATAAGAGCCTTGCTTGTAAGCAGCTTCTCAGAACTAAAAGTGTACAAATAACCTATTTCTCTTTTGAGTGTCAGGTTGTACTCGGTTATTTCTCTAGGGTTTTGTTCATCTCAGATTT
GAAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAATAATTTTCTACCCCAGCGTGGTAGTCAATGAGGAGAGAGGGGAAGAATGCGCACATGATGCTACACGTTTCTGTTGTTGCTGTTATTATTGGTGGCTTTGAGGAGAGCTGCTCCCATTTGGGGGTTTATACCAACTGTGGATTATGGCTTTGTCATTAAGATTTGATCTTTGTTAAATGAAAAACTGTTTATTGTATAAAACTCAGGTTTGTGGACGAAAAGTTGTTTTTTTTCTTCAGTTAATTAAATTGTTCCTCAAGTTTGTTTAAGGACTTAAAATCAAACACAACCATGTGTAAACTGCTAAATGAGGCTCCTAAAATGAGAGGCCTCAACTCTTTAAGTGTGGAGCTAGAAATGTAAATAAGTCCACAGGGCAGACTGGTGATTATGATAAAAGCTACCATTTACTGAGCATCTGTCTACTAGGCTCAGCTCTATGCTAAGTCTACATGTTATCTGTCAAAGTGGTATCATCCCCATTTAATAGCTGAGGAAACAGAGGCTTAGAAAGGCTGGGTAACTTGACCAGGGTCATGCAACTAGTCTGCGGTGGAGCCAGGATTCTGTCTGACCCTAAAGGCCAAGTTCTTTATATTTATTTCTACCACCTGCTAAAGTCTTGAATGGAGGCTGAAAGCACAGTTGGGGTATGGGGAAGAAAAATATATATACATACATATATGTATATGTATGTATGTATGTATGGGGGGTTGTTTTGTTTTTGTTTTTGATAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGAGCATGCCACCACACCCAGCAAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTCATCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCGCGTCCGGCCTACAGATATATTTAATTTAAAGAGATCTAAAACAAATACAAAACTGTCCACATCTATGTTGATGGACCCATAAAAATAGCAGTCTGCCAGGGTCTGCCGGAAGAGACAGATAAGCATACATATTAACATGGATATATATGTGAATTTCATTCAAATGGTTCTCACATGAGAGTAACTAGCATCTTTCTCTCAGATGATGAAGATGATGAAGAGGAAGATGAAGAGGAAGAAATCGACGTGGTCACTGTGGAGAAGCGGCGTTCCTCCTCCAACACCAAGGCTGTCACCACATTCACCATCACTGTGCGTCCCAAGAACGCAGCCCTGGGTCCCGGGAGGGCTCAGTCCAGCGAGCTGATCCTCAAACGATGCCTTCCCATCCACCAGCAGCACAACTATGCCGCCCCCTCTCCCTACGTGGAGAGTGAGGATGCACCCCCACAGAAGAAGATAAAGAGCGAGGCGTCCCCACGTCCGCTCAAGAGTGTCATCCCCCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGTGAGCGTCGCAGAAACCACAACATCCTGGAGCGCCAGAGCCGCAACGACCTTCGGTCCAGCTTTCTCACGCTCAGGGACCACGTGCCGGAGTTGGTAAAGAATGAGAAGGCCGCCAAGGTGGTCATTTTGAAAAAGGCCACTGAGTATGTCCACTCCCTCCAGGCCGAGGAGCACCAGCTTTTGCTGGAAAAGGAAAAATTGCAGGCAAGACAGCAGCAGTTGCTAAAGAAAATTGAACACGCTCGGACTTGCTAGACGCTTCTCAAAACTGGACAGTCACTGCCACTTTGCACATTTTGATTTTTTTTTTAAACAAACATTGTGTTGACATTAAGAATGTTGGTTTACTTTCAAATCGGTCCCCTGTCGAGTTCGGCTCTGGGTGGGCAGTAGGACCACCAGTGTGGGGTTCTGCTGGGACCTTGGAGAGCCTGCATCCCAGGATGCTGGGTGGCCCTGCAGCCTCCTCCACCTCACCTCCATGACAGCGCTAAACGTTGGTGACGGTTGGGAGCCTCTGGGGCTGTTGAAGTCACCTTGTGTGTTCCAAGTTTCCAAACAACAGAAAGTCATTCCTTCTTTTTAAAATGGTGCTTAAGTTCCAGCAGATGCCACATAAGGGGTTTGCCATTTGATACCCCTGGGGAACATTTCTGTAAATACCATTGACACATCCGCCTTTTGTATACATCCTGGGTAATGAGAGGTGGCTTTTGCGGCCAGTATTAGACTGGAAGTTCATACCTAAGTACTGTAATAATACCTCAATGTTTGAGGAGCATGTTTTGTATACAAATATATTGTTAATCTCTGTTATGTACTGTACTAATTCTTACACTGCCTGTATACTTTAGTATGACGCTGATACATAACTAAATTTGATACTTATATTTTCGTATGAAAATGAGTTGTGAAAGTTTTGAGTAGATATTACTTTATCACTTTTTGAACTAAGAAACTTTTGTAAAGAAATTTACTATATATATATGCCTTTTTCCTAGCCTGTTTCTTCCTGTTAATGTATTTGTTCATGTTTGGTGCATAGAACTGGGTAAATGCAAAGTTCTGTGTTTAATTTCTTCAAAATGTATATATTTAGTGCTGCATCTTATAGCACTTTGAAATACCTCATGTTTATGAAAATAAATAGCTTAAAATTAAATGATGCAACTCAACCTTTTCCTTAATGGCATTACACTCTGTCCCTTAAGGAGCAACCATAAATAATCCATAACCTATAGAGGGAATTTGGTTTCCGTAAATAGCCCTTTTTGCACCTGTACAATCCTGGTTGGGGGGCATGAGTCATTGTCCCCACTTAAGGTGGAGGGAACTGAGTTTGGGGAAATTAAGGCAGTTCTCCAAGATTATGCAGAATAGAGATGTTATTAGCGACTATTGTGTGCATTGTAGCAATGGCATTTGATAATTTACAGAGCACTTCTGTATACTGTGGCTCCTTAGTGGAATTAAGCTGAGACCTCAGATCAGTCCCTTTAAAAGAAAAGTAAAAATAGCCACAGGGTTGTTTAACTCGCTTGTATTGGGCTTTGGTAGTATTCGTCCCATTGGCAGACAGTCTTCTATTTTAAGGTAGAGCATAGTTTGTCTCCAAGAATTCATTGTTAAAAACATTCACTAGGATCTGTGGAGGTTCTAGGCTAAGCAGAGTAAGCAGAATAAACAGATGGAAATGGGTTCCTCCCTTCAATGAACTCAACCTGATTCACCAAAGTGTAATTCACGAGTGACAGTTACGTAGTCCAGAGCAAGTACCAGGTGCAGGAGAGACCCTGGGGTCACAATGGAGACCCCATATGGGTGGCATGGCTCTCTACTTGCCATTCCTATTACACAGCAGTGTCTTGGCTACTTGGGCTGCCCTTTGGAAATGGGATCAATCTTGCAGGCTCCAGAAGACAGAGCCAAGACTTGTGTGTTAAGGAGATAGTTTACCTGTTGGGACATAAGAGCCTTGCTTGTAAGCAGCTTCTCAGAACTAAAAGTGTACAAATAACCTATTTCTCTTTTGAGTGTCAGGTTGTACTCGGTTATTTCTCTAGGGTTTTGTTCATCTCAGATTT
Task1_train_3124
Given this variant in gene MYCN (MYCN proto-oncogene, bHLH transcription factor) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Feingold syndrome type 1
AAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAATAATTTTCTACCCCAGCGTGGTAGTCAATGAGGAGAGAGGGGAAGAATGCGCACATGATGCTACACGTTTCTGTTGTTGCTGTTATTATTGGTGGCTTTGAGGAGAGCTGCTCCCATTTGGGGGTTTATACCAACTGTGGATTATGGCTTTGTCATTAAGATTTGATCTTTGTTAAATGAAAAACTGTTTATTGTATAAAACTCAGGTTTGTGGACGAAAAGTTGTTTTTTTTCTTCAGTTAATTAAATTGTTCCTCAAGTTTGTTTAAGGACTTAAAATCAAACACAACCATGTGTAAACTGCTAAATGAGGCTCCTAAAATGAGAGGCCTCAACTCTTTAAGTGTGGAGCTAGAAATGTAAATAAGTCCACAGGGCAGACTGGTGATTATGATAAAAGCTACCATTTACTGAGCATCTGTCTACTAGGCTCAGCTCTATGCTAAGTCTACATGTTATCTGTCAAAGTGGTATCATCCCCATTTAATAGCTGAGGAAACAGAGGCTTAGAAAGGCTGGGTAACTTGACCAGGGTCATGCAACTAGTCTGCGGTGGAGCCAGGATTCTGTCTGACCCTAAAGGCCAAGTTCTTTATATTTATTTCTACCACCTGCTAAAGTCTTGAATGGAGGCTGAAAGCACAGTTGGGGTATGGGGAAGAAAAATATATATACATACATATATGTATATGTATGTATGTATGTATGGGGGGTTGTTTTGTTTTTGTTTTTGATAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGAGCATGCCACCACACCCAGCAAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTCATCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCGCGTCCGGCCTACAGATATATTTAATTTAAAGAGATCTAAAACAAATACAAAACTGTCCACATCTATGTTGATGGACCCATAAAAATAGCAGTCTGCCAGGGTCTGCCGGAAGAGACAGATAAGCATACATATTAACATGGATATATATGTGAATTTCATTCAAATGGTTCTCACATGAGAGTAACTAGCATCTTTCTCTCAGATGATGAAGATGATGAAGAGGAAGATGAAGAGGAAGAAATCGACGTGGTCACTGTGGAGAAGCGGCGTTCCTCCTCCAACACCAAGGCTGTCACCACATTCACCATCACTGTGCGTCCCAAGAACGCAGCCCTGGGTCCCGGGAGGGCTCAGTCCAGCGAGCTGATCCTCAAACGATGCCTTCCCATCCACCAGCAGCACAACTATGCCGCCCCCTCTCCCTACGTGGAGAGTGAGGATGCACCCCCACAGAAGAAGATAAAGAGCGAGGCGTCCCCACGTCCGCTCAAGAGTGTCATCCCCCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGTGAGCGTCGCAGAAACCACAACATCCTGGAGCGCCAGCGCCGCAACGACCTTCGGTCCAGCTTTCTCACGCTCAGGGACCACGTGCCGGAGTTGGTAAAGAATGAGAAGGCCGCCAAGGTGGTCATTTTGAAAAAGGCCACTGAGTATGTCCACTCCCTCCAGGCCGAGGAGCACCAGCTTTTGCTGGAAAAGGAAAAATTGCAGGCAAGACAGCAGCAGTTGCTAAAGAAAATTGAACACGCTCGGACTTGCTAGACGCTTCTCAAAACTGGACAGTCACTGCCACTTTGCACATTTTGATTTTTTTTTTAAACAAACATTGTGTTGACATTAAGAATGTTGGTTTACTTTCAAATCGGTCCCCTGTCGAGTTCGGCTCTGGGTGGGCAGTAGGACCACCAGTGTGGGGTTCTGCTGGGACCTTGGAGAGCCTGCATCCCAGGATGCTGGGTGGCCCTGCAGCCTCCTCCACCTCACCTCCATGACAGCGCTAAACGTTGGTGACGGTTGGGAGCCTCTGGGGCTGTTGAAGTCACCTTGTGTGTTCCAAGTTTCCAAACAACAGAAAGTCATTCCTTCTTTTTAAAATGGTGCTTAAGTTCCAGCAGATGCCACATAAGGGGTTTGCCATTTGATACCCCTGGGGAACATTTCTGTAAATACCATTGACACATCCGCCTTTTGTATACATCCTGGGTAATGAGAGGTGGCTTTTGCGGCCAGTATTAGACTGGAAGTTCATACCTAAGTACTGTAATAATACCTCAATGTTTGAGGAGCATGTTTTGTATACAAATATATTGTTAATCTCTGTTATGTACTGTACTAATTCTTACACTGCCTGTATACTTTAGTATGACGCTGATACATAACTAAATTTGATACTTATATTTTCGTATGAAAATGAGTTGTGAAAGTTTTGAGTAGATATTACTTTATCACTTTTTGAACTAAGAAACTTTTGTAAAGAAATTTACTATATATATATGCCTTTTTCCTAGCCTGTTTCTTCCTGTTAATGTATTTGTTCATGTTTGGTGCATAGAACTGGGTAAATGCAAAGTTCTGTGTTTAATTTCTTCAAAATGTATATATTTAGTGCTGCATCTTATAGCACTTTGAAATACCTCATGTTTATGAAAATAAATAGCTTAAAATTAAATGATGCAACTCAACCTTTTCCTTAATGGCATTACACTCTGTCCCTTAAGGAGCAACCATAAATAATCCATAACCTATAGAGGGAATTTGGTTTCCGTAAATAGCCCTTTTTGCACCTGTACAATCCTGGTTGGGGGGCATGAGTCATTGTCCCCACTTAAGGTGGAGGGAACTGAGTTTGGGGAAATTAAGGCAGTTCTCCAAGATTATGCAGAATAGAGATGTTATTAGCGACTATTGTGTGCATTGTAGCAATGGCATTTGATAATTTACAGAGCACTTCTGTATACTGTGGCTCCTTAGTGGAATTAAGCTGAGACCTCAGATCAGTCCCTTTAAAAGAAAAGTAAAAATAGCCACAGGGTTGTTTAACTCGCTTGTATTGGGCTTTGGTAGTATTCGTCCCATTGGCAGACAGTCTTCTATTTTAAGGTAGAGCATAGTTTGTCTCCAAGAATTCATTGTTAAAAACATTCACTAGGATCTGTGGAGGTTCTAGGCTAAGCAGAGTAAGCAGAATAAACAGATGGAAATGGGTTCCTCCCTTCAATGAACTCAACCTGATTCACCAAAGTGTAATTCACGAGTGACAGTTACGTAGTCCAGAGCAAGTACCAGGTGCAGGAGAGACCCTGGGGTCACAATGGAGACCCCATATGGGTGGCATGGCTCTCTACTTGCCATTCCTATTACACAGCAGTGTCTTGGCTACTTGGGCTGCCCTTTGGAAATGGGATCAATCTTGCAGGCTCCAGAAGACAGAGCCAAGACTTGTGTGTTAAGGAGATAGTTTACCTGTTGGGACATAAGAGCCTTGCTTGTAAGCAGCTTCTCAGAACTAAAAGTGTACAAATAACCTATTTCTCTTTTGAGTGTCAGGTTGTACTCGGTTATTTCTCTAGGGTTTTGTTCATCTCAGATTTT
AAGAGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAATAATTTTCTACCCCAGCGTGGTAGTCAATGAGGAGAGAGGGGAAGAATGCGCACATGATGCTACACGTTTCTGTTGTTGCTGTTATTATTGGTGGCTTTGAGGAGAGCTGCTCCCATTTGGGGGTTTATACCAACTGTGGATTATGGCTTTGTCATTAAGATTTGATCTTTGTTAAATGAAAAACTGTTTATTGTATAAAACTCAGGTTTGTGGACGAAAAGTTGTTTTTTTTCTTCAGTTAATTAAATTGTTCCTCAAGTTTGTTTAAGGACTTAAAATCAAACACAACCATGTGTAAACTGCTAAATGAGGCTCCTAAAATGAGAGGCCTCAACTCTTTAAGTGTGGAGCTAGAAATGTAAATAAGTCCACAGGGCAGACTGGTGATTATGATAAAAGCTACCATTTACTGAGCATCTGTCTACTAGGCTCAGCTCTATGCTAAGTCTACATGTTATCTGTCAAAGTGGTATCATCCCCATTTAATAGCTGAGGAAACAGAGGCTTAGAAAGGCTGGGTAACTTGACCAGGGTCATGCAACTAGTCTGCGGTGGAGCCAGGATTCTGTCTGACCCTAAAGGCCAAGTTCTTTATATTTATTTCTACCACCTGCTAAAGTCTTGAATGGAGGCTGAAAGCACAGTTGGGGTATGGGGAAGAAAAATATATATACATACATATATGTATATGTATGTATGTATGTATGGGGGGTTGTTTTGTTTTTGTTTTTGATAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGAGCATGCCACCACACCCAGCAAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTCATCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCGCGTCCGGCCTACAGATATATTTAATTTAAAGAGATCTAAAACAAATACAAAACTGTCCACATCTATGTTGATGGACCCATAAAAATAGCAGTCTGCCAGGGTCTGCCGGAAGAGACAGATAAGCATACATATTAACATGGATATATATGTGAATTTCATTCAAATGGTTCTCACATGAGAGTAACTAGCATCTTTCTCTCAGATGATGAAGATGATGAAGAGGAAGATGAAGAGGAAGAAATCGACGTGGTCACTGTGGAGAAGCGGCGTTCCTCCTCCAACACCAAGGCTGTCACCACATTCACCATCACTGTGCGTCCCAAGAACGCAGCCCTGGGTCCCGGGAGGGCTCAGTCCAGCGAGCTGATCCTCAAACGATGCCTTCCCATCCACCAGCAGCACAACTATGCCGCCCCCTCTCCCTACGTGGAGAGTGAGGATGCACCCCCACAGAAGAAGATAAAGAGCGAGGCGTCCCCACGTCCGCTCAAGAGTGTCATCCCCCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGTGAGCGTCGCAGAAACCACAACATCCTGGAGCGCCAGCACCGCAACGACCTTCGGTCCAGCTTTCTCACGCTCAGGGACCACGTGCCGGAGTTGGTAAAGAATGAGAAGGCCGCCAAGGTGGTCATTTTGAAAAAGGCCACTGAGTATGTCCACTCCCTCCAGGCCGAGGAGCACCAGCTTTTGCTGGAAAAGGAAAAATTGCAGGCAAGACAGCAGCAGTTGCTAAAGAAAATTGAACACGCTCGGACTTGCTAGACGCTTCTCAAAACTGGACAGTCACTGCCACTTTGCACATTTTGATTTTTTTTTTAAACAAACATTGTGTTGACATTAAGAATGTTGGTTTACTTTCAAATCGGTCCCCTGTCGAGTTCGGCTCTGGGTGGGCAGTAGGACCACCAGTGTGGGGTTCTGCTGGGACCTTGGAGAGCCTGCATCCCAGGATGCTGGGTGGCCCTGCAGCCTCCTCCACCTCACCTCCATGACAGCGCTAAACGTTGGTGACGGTTGGGAGCCTCTGGGGCTGTTGAAGTCACCTTGTGTGTTCCAAGTTTCCAAACAACAGAAAGTCATTCCTTCTTTTTAAAATGGTGCTTAAGTTCCAGCAGATGCCACATAAGGGGTTTGCCATTTGATACCCCTGGGGAACATTTCTGTAAATACCATTGACACATCCGCCTTTTGTATACATCCTGGGTAATGAGAGGTGGCTTTTGCGGCCAGTATTAGACTGGAAGTTCATACCTAAGTACTGTAATAATACCTCAATGTTTGAGGAGCATGTTTTGTATACAAATATATTGTTAATCTCTGTTATGTACTGTACTAATTCTTACACTGCCTGTATACTTTAGTATGACGCTGATACATAACTAAATTTGATACTTATATTTTCGTATGAAAATGAGTTGTGAAAGTTTTGAGTAGATATTACTTTATCACTTTTTGAACTAAGAAACTTTTGTAAAGAAATTTACTATATATATATGCCTTTTTCCTAGCCTGTTTCTTCCTGTTAATGTATTTGTTCATGTTTGGTGCATAGAACTGGGTAAATGCAAAGTTCTGTGTTTAATTTCTTCAAAATGTATATATTTAGTGCTGCATCTTATAGCACTTTGAAATACCTCATGTTTATGAAAATAAATAGCTTAAAATTAAATGATGCAACTCAACCTTTTCCTTAATGGCATTACACTCTGTCCCTTAAGGAGCAACCATAAATAATCCATAACCTATAGAGGGAATTTGGTTTCCGTAAATAGCCCTTTTTGCACCTGTACAATCCTGGTTGGGGGGCATGAGTCATTGTCCCCACTTAAGGTGGAGGGAACTGAGTTTGGGGAAATTAAGGCAGTTCTCCAAGATTATGCAGAATAGAGATGTTATTAGCGACTATTGTGTGCATTGTAGCAATGGCATTTGATAATTTACAGAGCACTTCTGTATACTGTGGCTCCTTAGTGGAATTAAGCTGAGACCTCAGATCAGTCCCTTTAAAAGAAAAGTAAAAATAGCCACAGGGTTGTTTAACTCGCTTGTATTGGGCTTTGGTAGTATTCGTCCCATTGGCAGACAGTCTTCTATTTTAAGGTAGAGCATAGTTTGTCTCCAAGAATTCATTGTTAAAAACATTCACTAGGATCTGTGGAGGTTCTAGGCTAAGCAGAGTAAGCAGAATAAACAGATGGAAATGGGTTCCTCCCTTCAATGAACTCAACCTGATTCACCAAAGTGTAATTCACGAGTGACAGTTACGTAGTCCAGAGCAAGTACCAGGTGCAGGAGAGACCCTGGGGTCACAATGGAGACCCCATATGGGTGGCATGGCTCTCTACTTGCCATTCCTATTACACAGCAGTGTCTTGGCTACTTGGGCTGCCCTTTGGAAATGGGATCAATCTTGCAGGCTCCAGAAGACAGAGCCAAGACTTGTGTGTTAAGGAGATAGTTTACCTGTTGGGACATAAGAGCCTTGCTTGTAAGCAGCTTCTCAGAACTAAAAGTGTACAAATAACCTATTTCTCTTTTGAGTGTCAGGTTGTACTCGGTTATTTCTCTAGGGTTTTGTTCATCTCAGATTTT
Task1_train_3125
With a mutation on Chromosome 2 in gene MYCN (MYCN proto-oncogene, bHLH transcription factor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Feingold syndrome
AGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAATAATTTTCTACCCCAGCGTGGTAGTCAATGAGGAGAGAGGGGAAGAATGCGCACATGATGCTACACGTTTCTGTTGTTGCTGTTATTATTGGTGGCTTTGAGGAGAGCTGCTCCCATTTGGGGGTTTATACCAACTGTGGATTATGGCTTTGTCATTAAGATTTGATCTTTGTTAAATGAAAAACTGTTTATTGTATAAAACTCAGGTTTGTGGACGAAAAGTTGTTTTTTTTCTTCAGTTAATTAAATTGTTCCTCAAGTTTGTTTAAGGACTTAAAATCAAACACAACCATGTGTAAACTGCTAAATGAGGCTCCTAAAATGAGAGGCCTCAACTCTTTAAGTGTGGAGCTAGAAATGTAAATAAGTCCACAGGGCAGACTGGTGATTATGATAAAAGCTACCATTTACTGAGCATCTGTCTACTAGGCTCAGCTCTATGCTAAGTCTACATGTTATCTGTCAAAGTGGTATCATCCCCATTTAATAGCTGAGGAAACAGAGGCTTAGAAAGGCTGGGTAACTTGACCAGGGTCATGCAACTAGTCTGCGGTGGAGCCAGGATTCTGTCTGACCCTAAAGGCCAAGTTCTTTATATTTATTTCTACCACCTGCTAAAGTCTTGAATGGAGGCTGAAAGCACAGTTGGGGTATGGGGAAGAAAAATATATATACATACATATATGTATATGTATGTATGTATGTATGGGGGGTTGTTTTGTTTTTGTTTTTGATAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGAGCATGCCACCACACCCAGCAAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTCATCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCGCGTCCGGCCTACAGATATATTTAATTTAAAGAGATCTAAAACAAATACAAAACTGTCCACATCTATGTTGATGGACCCATAAAAATAGCAGTCTGCCAGGGTCTGCCGGAAGAGACAGATAAGCATACATATTAACATGGATATATATGTGAATTTCATTCAAATGGTTCTCACATGAGAGTAACTAGCATCTTTCTCTCAGATGATGAAGATGATGAAGAGGAAGATGAAGAGGAAGAAATCGACGTGGTCACTGTGGAGAAGCGGCGTTCCTCCTCCAACACCAAGGCTGTCACCACATTCACCATCACTGTGCGTCCCAAGAACGCAGCCCTGGGTCCCGGGAGGGCTCAGTCCAGCGAGCTGATCCTCAAACGATGCCTTCCCATCCACCAGCAGCACAACTATGCCGCCCCCTCTCCCTACGTGGAGAGTGAGGATGCACCCCCACAGAAGAAGATAAAGAGCGAGGCGTCCCCACGTCCGCTCAAGAGTGTCATCCCCCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGTGAGCGTCGCAGAAACCACAACATCCTGGAGCGCCAGCGCCGCAACGACCTTCGGTCCAGCTTTCTCACGCTCAGGGACCACGTGCCGGAGTTGGTAAAGAATGAGAAGGCCGCCAAGGTGGTCATTTTGAAAAAGGCCACTGAGTATGTCCACTCCCTCCAGGCCGAGGAGCACCAGCTTTTGCTGGAAAAGGAAAAATTGCAGGCAAGACAGCAGCAGTTGCTAAAGAAAATTGAACACGCTCGGACTTGCTAGACGCTTCTCAAAACTGGACAGTCACTGCCACTTTGCACATTTTGATTTTTTTTTTAAACAAACATTGTGTTGACATTAAGAATGTTGGTTTACTTTCAAATCGGTCCCCTGTCGAGTTCGGCTCTGGGTGGGCAGTAGGACCACCAGTGTGGGGTTCTGCTGGGACCTTGGAGAGCCTGCATCCCAGGATGCTGGGTGGCCCTGCAGCCTCCTCCACCTCACCTCCATGACAGCGCTAAACGTTGGTGACGGTTGGGAGCCTCTGGGGCTGTTGAAGTCACCTTGTGTGTTCCAAGTTTCCAAACAACAGAAAGTCATTCCTTCTTTTTAAAATGGTGCTTAAGTTCCAGCAGATGCCACATAAGGGGTTTGCCATTTGATACCCCTGGGGAACATTTCTGTAAATACCATTGACACATCCGCCTTTTGTATACATCCTGGGTAATGAGAGGTGGCTTTTGCGGCCAGTATTAGACTGGAAGTTCATACCTAAGTACTGTAATAATACCTCAATGTTTGAGGAGCATGTTTTGTATACAAATATATTGTTAATCTCTGTTATGTACTGTACTAATTCTTACACTGCCTGTATACTTTAGTATGACGCTGATACATAACTAAATTTGATACTTATATTTTCGTATGAAAATGAGTTGTGAAAGTTTTGAGTAGATATTACTTTATCACTTTTTGAACTAAGAAACTTTTGTAAAGAAATTTACTATATATATATGCCTTTTTCCTAGCCTGTTTCTTCCTGTTAATGTATTTGTTCATGTTTGGTGCATAGAACTGGGTAAATGCAAAGTTCTGTGTTTAATTTCTTCAAAATGTATATATTTAGTGCTGCATCTTATAGCACTTTGAAATACCTCATGTTTATGAAAATAAATAGCTTAAAATTAAATGATGCAACTCAACCTTTTCCTTAATGGCATTACACTCTGTCCCTTAAGGAGCAACCATAAATAATCCATAACCTATAGAGGGAATTTGGTTTCCGTAAATAGCCCTTTTTGCACCTGTACAATCCTGGTTGGGGGGCATGAGTCATTGTCCCCACTTAAGGTGGAGGGAACTGAGTTTGGGGAAATTAAGGCAGTTCTCCAAGATTATGCAGAATAGAGATGTTATTAGCGACTATTGTGTGCATTGTAGCAATGGCATTTGATAATTTACAGAGCACTTCTGTATACTGTGGCTCCTTAGTGGAATTAAGCTGAGACCTCAGATCAGTCCCTTTAAAAGAAAAGTAAAAATAGCCACAGGGTTGTTTAACTCGCTTGTATTGGGCTTTGGTAGTATTCGTCCCATTGGCAGACAGTCTTCTATTTTAAGGTAGAGCATAGTTTGTCTCCAAGAATTCATTGTTAAAAACATTCACTAGGATCTGTGGAGGTTCTAGGCTAAGCAGAGTAAGCAGAATAAACAGATGGAAATGGGTTCCTCCCTTCAATGAACTCAACCTGATTCACCAAAGTGTAATTCACGAGTGACAGTTACGTAGTCCAGAGCAAGTACCAGGTGCAGGAGAGACCCTGGGGTCACAATGGAGACCCCATATGGGTGGCATGGCTCTCTACTTGCCATTCCTATTACACAGCAGTGTCTTGGCTACTTGGGCTGCCCTTTGGAAATGGGATCAATCTTGCAGGCTCCAGAAGACAGAGCCAAGACTTGTGTGTTAAGGAGATAGTTTACCTGTTGGGACATAAGAGCCTTGCTTGTAAGCAGCTTCTCAGAACTAAAAGTGTACAAATAACCTATTTCTCTTTTGAGTGTCAGGTTGTACTCGGTTATTTCTCTAGGGTTTTGTTCATCTCAGATTTTTAA
AGTTAAAACCAAGCCTTTCCCTGGGGGTCTGGATGAACAGAACTCAACCCAAAGAGTGGCATTGCCTTGTCCTTGGAGCAGGGAGCTGGGACCCCCCTTGGACTTTGAAAACCAGTGTTTTCAGAATGCAGGTGGATAACAAGCCTAAATTTACTTCTGGGCTGAGGAGAGATCTTTGAGGCTCCTGGAAGGAAACTTGGTGATAAGCCTCCAGTTTGAAACGGCTCTGTCCCTTTAATGTCTGTGCCTTGACAGCTTTTGGTGAGGAAGCACTTCCTTCCAACAGCTGTCTTCTTGGCAGAAAACCAAAACATTGGCTTAAAGGGACCCACAGACTGGAACAGCCTCACATTTCGGCTTTAGAACAAATCCCACAATTGTTCAGCTTTCCGGTCCCCTTCAGATCAAGCAGAAGATATGTTTTGATTTTCATGCTTGTATTTTAAACAATAATTTTCTACCCCAGCGTGGTAGTCAATGAGGAGAGAGGGGAAGAATGCGCACATGATGCTACACGTTTCTGTTGTTGCTGTTATTATTGGTGGCTTTGAGGAGAGCTGCTCCCATTTGGGGGTTTATACCAACTGTGGATTATGGCTTTGTCATTAAGATTTGATCTTTGTTAAATGAAAAACTGTTTATTGTATAAAACTCAGGTTTGTGGACGAAAAGTTGTTTTTTTTCTTCAGTTAATTAAATTGTTCCTCAAGTTTGTTTAAGGACTTAAAATCAAACACAACCATGTGTAAACTGCTAAATGAGGCTCCTAAAATGAGAGGCCTCAACTCTTTAAGTGTGGAGCTAGAAATGTAAATAAGTCCACAGGGCAGACTGGTGATTATGATAAAAGCTACCATTTACTGAGCATCTGTCTACTAGGCTCAGCTCTATGCTAAGTCTACATGTTATCTGTCAAAGTGGTATCATCCCCATTTAATAGCTGAGGAAACAGAGGCTTAGAAAGGCTGGGTAACTTGACCAGGGTCATGCAACTAGTCTGCGGTGGAGCCAGGATTCTGTCTGACCCTAAAGGCCAAGTTCTTTATATTTATTTCTACCACCTGCTAAAGTCTTGAATGGAGGCTGAAAGCACAGTTGGGGTATGGGGAAGAAAAATATATATACATACATATATGTATATGTATGTATGTATGTATGGGGGGTTGTTTTGTTTTTGTTTTTGATAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTGGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGAGCATGCCACCACACCCAGCAAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTCATCTCAGGTGATCTGCCCGCCTCCGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCGCGTCCGGCCTACAGATATATTTAATTTAAAGAGATCTAAAACAAATACAAAACTGTCCACATCTATGTTGATGGACCCATAAAAATAGCAGTCTGCCAGGGTCTGCCGGAAGAGACAGATAAGCATACATATTAACATGGATATATATGTGAATTTCATTCAAATGGTTCTCACATGAGAGTAACTAGCATCTTTCTCTCAGATGATGAAGATGATGAAGAGGAAGATGAAGAGGAAGAAATCGACGTGGTCACTGTGGAGAAGCGGCGTTCCTCCTCCAACACCAAGGCTGTCACCACATTCACCATCACTGTGCGTCCCAAGAACGCAGCCCTGGGTCCCGGGAGGGCTCAGTCCAGCGAGCTGATCCTCAAACGATGCCTTCCCATCCACCAGCAGCACAACTATGCCGCCCCCTCTCCCTACGTGGAGAGTGAGGATGCACCCCCACAGAAGAAGATAAAGAGCGAGGCGTCCCCACGTCCGCTCAAGAGTGTCATCCCCCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGTGAGCGTCGCAGAAACCACAACATCCTGGAGCGCCAGCGCCACAACGACCTTCGGTCCAGCTTTCTCACGCTCAGGGACCACGTGCCGGAGTTGGTAAAGAATGAGAAGGCCGCCAAGGTGGTCATTTTGAAAAAGGCCACTGAGTATGTCCACTCCCTCCAGGCCGAGGAGCACCAGCTTTTGCTGGAAAAGGAAAAATTGCAGGCAAGACAGCAGCAGTTGCTAAAGAAAATTGAACACGCTCGGACTTGCTAGACGCTTCTCAAAACTGGACAGTCACTGCCACTTTGCACATTTTGATTTTTTTTTTAAACAAACATTGTGTTGACATTAAGAATGTTGGTTTACTTTCAAATCGGTCCCCTGTCGAGTTCGGCTCTGGGTGGGCAGTAGGACCACCAGTGTGGGGTTCTGCTGGGACCTTGGAGAGCCTGCATCCCAGGATGCTGGGTGGCCCTGCAGCCTCCTCCACCTCACCTCCATGACAGCGCTAAACGTTGGTGACGGTTGGGAGCCTCTGGGGCTGTTGAAGTCACCTTGTGTGTTCCAAGTTTCCAAACAACAGAAAGTCATTCCTTCTTTTTAAAATGGTGCTTAAGTTCCAGCAGATGCCACATAAGGGGTTTGCCATTTGATACCCCTGGGGAACATTTCTGTAAATACCATTGACACATCCGCCTTTTGTATACATCCTGGGTAATGAGAGGTGGCTTTTGCGGCCAGTATTAGACTGGAAGTTCATACCTAAGTACTGTAATAATACCTCAATGTTTGAGGAGCATGTTTTGTATACAAATATATTGTTAATCTCTGTTATGTACTGTACTAATTCTTACACTGCCTGTATACTTTAGTATGACGCTGATACATAACTAAATTTGATACTTATATTTTCGTATGAAAATGAGTTGTGAAAGTTTTGAGTAGATATTACTTTATCACTTTTTGAACTAAGAAACTTTTGTAAAGAAATTTACTATATATATATGCCTTTTTCCTAGCCTGTTTCTTCCTGTTAATGTATTTGTTCATGTTTGGTGCATAGAACTGGGTAAATGCAAAGTTCTGTGTTTAATTTCTTCAAAATGTATATATTTAGTGCTGCATCTTATAGCACTTTGAAATACCTCATGTTTATGAAAATAAATAGCTTAAAATTAAATGATGCAACTCAACCTTTTCCTTAATGGCATTACACTCTGTCCCTTAAGGAGCAACCATAAATAATCCATAACCTATAGAGGGAATTTGGTTTCCGTAAATAGCCCTTTTTGCACCTGTACAATCCTGGTTGGGGGGCATGAGTCATTGTCCCCACTTAAGGTGGAGGGAACTGAGTTTGGGGAAATTAAGGCAGTTCTCCAAGATTATGCAGAATAGAGATGTTATTAGCGACTATTGTGTGCATTGTAGCAATGGCATTTGATAATTTACAGAGCACTTCTGTATACTGTGGCTCCTTAGTGGAATTAAGCTGAGACCTCAGATCAGTCCCTTTAAAAGAAAAGTAAAAATAGCCACAGGGTTGTTTAACTCGCTTGTATTGGGCTTTGGTAGTATTCGTCCCATTGGCAGACAGTCTTCTATTTTAAGGTAGAGCATAGTTTGTCTCCAAGAATTCATTGTTAAAAACATTCACTAGGATCTGTGGAGGTTCTAGGCTAAGCAGAGTAAGCAGAATAAACAGATGGAAATGGGTTCCTCCCTTCAATGAACTCAACCTGATTCACCAAAGTGTAATTCACGAGTGACAGTTACGTAGTCCAGAGCAAGTACCAGGTGCAGGAGAGACCCTGGGGTCACAATGGAGACCCCATATGGGTGGCATGGCTCTCTACTTGCCATTCCTATTACACAGCAGTGTCTTGGCTACTTGGGCTGCCCTTTGGAAATGGGATCAATCTTGCAGGCTCCAGAAGACAGAGCCAAGACTTGTGTGTTAAGGAGATAGTTTACCTGTTGGGACATAAGAGCCTTGCTTGTAAGCAGCTTCTCAGAACTAAAAGTGTACAAATAACCTATTTCTCTTTTGAGTGTCAGGTTGTACTCGGTTATTTCTCTAGGGTTTTGTTCATCTCAGATTTTTAA
Task1_train_3126
The gene WDR35 (WD repeat domain 35), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Cranioectodermal dysplasia 2
GCTGGAATTCATTGTGTTACATTTAGGTAAGTAAGTTAGTAACCTAGGAGACTTATTAGGCAAAGTTAATAGAGCGTGTATGTGTGACCACAGATAGAAAGGAGCAAGAGATACCAAATATTCATGAAGCACTAAAAATATGAAAAGCCACAAAGATACCAAATATTCATGATACACTAAGTATGCATGAGACATATAAAGCCTTCAGTATGTGTGAGAAGTTGATTCAATTACCCACTGGTGACACTCATTCTGGCCTGTCCTTACCCAAGAAATACAATAAAATTCATGACTGCTCAGCAGACTAATAGGCAAGCTATTGCTGTGGTGAAGTGTACTTGCCCCTGACACCCTTCTATAGAGCAAGTGTACATCGTTGGCCTCAGGCACATTTCATCTGATTGAGTCATCTGGCTCAAGCGGCCACTCTGGTCCTTTTTGTAACCCGACTATTAGGGGAAAGCGTATGTGACAGAATGTGAGTCAGGACATAAAAACATTACAAAACCCAGGATTCAGGTGTTGCGGTCTTTCCACTCCACTGGCACGTTACACTAACAGTGTTAATCTATCATTGCTTTCTCCTTGTTCCTCACTGTGTATTGCAAATTGGTTCAATAAACCAATGTATTTTGAGAATTTTTATTTGGTTTATAAGGCTTTCTGTTCCATGACCTCTGGAATAGCTTGCGAGGCAGTCTATTTAGAGGCTACCATTGTACCAAGGTAATTTTCCACGAGGCGCATGAATAGAGACAGAGACCTCAAAGACTTCTGGTCTTCTCTTTTTATTTAGGCCAATGAGCCCACTCTCTATCCTAAGCTCATCTAGGCTCTAAATCTCTTCTCATAGCTCACTATTCCCAATCTGCAACATGCTGAACTTGTCTCTGTCTCTACAAGACAAAAACATATGAGATTGAGAAAGTGTATTGTAGCTGCAAAAACAAAGTTGCGTATCTCTATGTATTGCCTCTACTATATGTAAGCCAAACCTCAATAAAATAATCTTGATGAAATAGTGCAAAGGTCTGGTCTTTAGCCACAAAATGGGAATTCATGAGAAATAAACAGAGAACATTATTAGCTATGTAAAAGACATAAGAAATGATCCATTATGGATCACAACTGTTTATCTTTCAAATTAATAATAAATGAAAACAGACGCATATCAAGAAAAAATCACTCCCTCAACAATACTTGTGTAAATAAACGGTCCAACTTAGTGACAATGTTTCAACAGAAGCTATAACTACAAAATGGATATTTCTGTTTAAGTTATCTTCATTATAAATAGAGGCAAGTTTTCTGCACAATCATATGAAAGTGTAAATTCCAAATGCCATCTCTTAAATGAGACTAAAAGGACAGGTTTTAAAATAGAAGAATAGGGCTATTAGAAACAATTCAGATTGTAAAAAATGTCTTAAAATGCCATCGCCTCACTTCTGAAAATACAATAAAGAAGACATTCGACACTTATTTAATTAAATATGGCTATAGAGAAAGCTCATTTCATTATTACAATTGTTTAACTTCCTTGTAACATGGGTTATAAAAATTCTCTAAATTCAACTTTGCCCCACTCCCATGCTTCCCCCACTCCCTACTCCCTTCAAGATTTTTTAATGAATTCAGTTACCTTGACACTGTGAGAAAAAAATTTATTTGGAATATTTCCATGGTATCATGTAACCAAAAACAAGATAAACAAAAGAGAGAGGGTGAGAGAAAACATGGTTGATTTTCATACATTTATATGAAAATCGGCCTTATTATTTCACAGTTGTATTGCCATAAAAATTATTTTATTAACATATATTTTGTGCAAAAATTCAACTATAAATAATGAGGCTGATTTTCATACAAAACTCACAGAAATAAACCTTATTACATATACAGCATATAGCCATGTATATATGCTACATATATTTTACAGTTATATACAGTTTATCATTCCTTTATCCCACTGGACTATGGCATAAGGGGCAGAAGCTGTAGTGGCTTATTTCCTGAGCAAGGACACCGTGTTTGCATACACTGCACATCCAGAATTGATACTCAGTGATTGGGCTTCCTGTGGCAACGCATGTTGGCAGTTTCCCTTCTCCACTGTAAAACGGGGAGAAACAATTCATTATACTTTAAAACTTCTCATTAGTCTAACTTTATTTAATACACTTAAAAAAAACCTAAAGAATAAAACTTCTGAGATGAACATCAAATACTTTCATTTAAAAAAGTTATTTCAAGAAAAAACCTTTCTTACAATGACAAAATAAAGCATGAATACACTTGTAAAAATAAATAAAATAGGGTATAATGTTAATGTGAATTGCTTCAAAATTCAGTGCTTTAATTCCTACATTAAACATTGTACATCTAGAAATCCAAGCTTCTAATAAGATAGAATGGCATCCACTAATTAAAATTAGCCTACCCTTCCATAAGGCTGTCCAATTCAGGTTTTCTGTTATCTTTTGAAGTATGTTTGGTGAAGATTTCTAAAGCAAGGTCTTCATACTGCTGTTTCTGTTCTGAACTGAGGGTCTCTAAAGATTTAAGTTTAATGAAAGCTTTTGAACAAGTCCCAAAGGCTCTGCTGGCGCATGCGCAGAGTGCTAGCAGAGAGTAGATCTCCACAGGAGGGATGATGTCTTCATAGTCTTTCAGGTGAAGAGCTAAGAAAAACAGGGCAATTGGGGTTTTTTAAAATAATTATTATGATATCATGAACATGCAAAAGAAGAATCTAAGTTAAGGTGATTTCATTGAACTTGCATGAACGAACTGAAAGCAAACAGTGTTGAGAGATGGGAGCACCAAGAGGAGGAACTAGGCTACATGATATCCAAGGTTCTGTGAAGCTGGCTAACAGCTCATCCTATGAAAAGAACCACCACCAAATGCTGCACATGGCTGTGCCAGCTCAGAAATACACACACACACACAAAATTTTGGTGTCAAAACATCCACATTTTCTTCAATTTATGTTAGAAATTTCTGTGGCACTTCATAAAAAGCAAATGAGTATTATACTATGTTAGTCATAAACTGCAAGATAATACCATGTTTCCTTTTGTTAAAAAAAAAGCAAAACAATATAAGCAAAACAGTATAAAATAATATGTTCTTTTCTCTGTGTTTCTTTGGACAGATTATTGCTTTTGTATTACTGCTTTTGTCATTTGTCTCACTGAAACAATAGGATTTTGTGAAAAAGTGAAAATGAGTCTCCAAGTTGTCAGTTGAGACAATTCAAGTTACAACATCTTATTTGCAATTATACTGGAGATGAAAAAATCTTTCTTTAAAATGCACTGTATTCTTGGGCCTGTTGGGGGTGGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAAGCCTGCACGTTCTGTACATGTACCCCAGAACTTAAAGTATAATAAAAAAAGCAGACTTAATATTAGATTTAATATTAAGATTTAATATTAGATTTATAACCAATTTGTATCTTTTTCTTCTCTAGACCTTGGAATCTTAAAAATACTTTGTTATAGTATATCAAAAACTTCATAAAACCAGTTTAAACAATATATTCATGTGTTTTACAATCAGAATCCTATAAACTGGTTCTGGGGTCAAGTATTTACAACAAAGTGTAGTAGAAAAAATGTATATAAAATGTAATCACTCAGTTACAATAAACAATATCCTCTAATTTCATATCCAAAGCATGATAGGTTCAAGGGTAATAATTTACAGGTCATACATTGTTTCAGATCGTCTTACCACTGACAAAAAAAAAAAAAATGAGGCATATAGAGATCTTCACCTAGTAGGTGAAGCATCTCAAGTTAAAGATCTAATTGTTCTTTTAAGTCTAGAAATGGTGTATAAATTGAATATGATACAGCTATTTTAAACAGTGTATAATTTATGTCACATATTAGTTAAAACTAAATGAAGGTCAGTTATAAAATAAACATAAAAATAATTTTTATATATAACTAATAACCAATTAGAAAAAAAATTTACAACCTCATTAATGACAA
GCTGGAATTCATTGTGTTACATTTAGGTAAGTAAGTTAGTAACCTAGGAGACTTATTAGGCAAAGTTAATAGAGCGTGTATGTGTGACCACAGATAGAAAGGAGCAAGAGATACCAAATATTCATGAAGCACTAAAAATATGAAAAGCCACAAAGATACCAAATATTCATGATACACTAAGTATGCATGAGACATATAAAGCCTTCAGTATGTGTGAGAAGTTGATTCAATTACCCACTGGTGACACTCATTCTGGCCTGTCCTTACCCAAGAAATACAATAAAATTCATGACTGCTCAGCAGACTAATAGGCAAGCTATTGCTGTGGTGAAGTGTACTTGCCCCTGACACCCTTCTATAGAGCAAGTGTACATCGTTGGCCTCAGGCACATTTCATCTGATTGAGTCATCTGGCTCAAGCGGCCACTCTGGTCCTTTTTGTAACCCGACTATTAGGGGAAAGCGTATGTGACAGAATGTGAGTCAGGACATAAAAACATTACAAAACCCAGGATTCAGGTGTTGCGGTCTTTCCACTCCACTGGCACGTTACACTAACAGTGTTAATCTATCATTGCTTTCTCCTTGTTCCTCACTGTGTATTGCAAATTGGTTCAATAAACCAATGTATTTTGAGAATTTTTATTTGGTTTATAAGGCTTTCTGTTCCATGACCTCTGGAATAGCTTGCGAGGCAGTCTATTTAGAGGCTACCATTGTACCAAGGTAATTTTCCACGAGGCGCATGAATAGAGACAGAGACCTCAAAGACTTCTGGTCTTCTCTTTTTATTTAGGCCAATGAGCCCACTCTCTATCCTAAGCTCATCTAGGCTCTAAATCTCTTCTCATAGCTCACTATTCCCAATCTGCAACATGCTGAACTTGTCTCTGTCTCTACAAGACAAAAACATATGAGATTGAGAAAGTGTATTGTAGCTGCAAAAACAAAGTTGCGTATCTCTATGTATTGCCTCTACTATATGTAAGCCAAACCTCAATAAAATAATCTTGATGAAATAGTGCAAAGGTCTGGTCTTTAGCCACAAAATGGGAATTCATGAGAAATAAACAGAGAACATTATTAGCTATGTAAAAGACATAAGAAATGATCCATTATGGATCACAACTGTTTATCTTTCAAATTAATAATAAATGAAAACAGACGCATATCAAGAAAAAATCACTCCCTCAACAATACTTGTGTAAATAAACGGTCCAACTTAGTGACAATGTTTCAACAGAAGCTATAACTACAAAATGGATATTTCTGTTTAAGTTATCTTCATTATAAATAGAGGCAAGTTTTCTGCACAATCATATGAAAGTGTAAATTCCAAATGCCATCTCTTAAATGAGACTAAAAGGACAGGTTTTAAAATAGAAGAATAGGGCTATTAGAAACAATTCAGATTGTAAAAAATGTCTTAAAATGCCATCGCCTCACTTCTGAAAATACAATAAAGAAGACATTCGACACTTATTTAATTAAATATGGCTATAGAGAAAGCTCATTTCATTATTACAATTGTTTAACTTCCTTGTAACATGGGTTATAAAAATTCTCTAAATTCAACTTTGCCCCACTCCCATGCTTCCCCCACTCCCTACTCCCTTCAAGATTTTTTAATGAATTCAGTTACCTTGACACTGTGAGAAAAAAATTTATTTGGAATATTTCCATGGTATCATGTAACCAAAAACAAGATAAACAAAAGAGAGAGGGTGAGAGAAAACATGGTTGATTTTCATACATTTATATGAAAATCGGCCTTATTATTTCACAGTTGTATTGCCATAAAAATTATTTTATTAACATATATTTTGTGCAAAAATTCAACTATAAATAATGAGGCTGATTTTCATACAAAACTCACAGAAATAAACCTTATTACATATACAGCATATAGCCATGTATATATGCTACATATATTTTACAGTTATATACAGTTTATCATTCCTTTATCCCACTGGACTATGGCATAAGGGGCAGAAGCTGTAGTGGCTTATTTCCTGAGCAAGGACACCGTGTTTGCATACACTGCACATACAGAATTGATACTCAGTGATTGGGCTTCCTGTGGCAACGCATGTTGGCAGTTTCCCTTCTCCACTGTAAAACGGGGAGAAACAATTCATTATACTTTAAAACTTCTCATTAGTCTAACTTTATTTAATACACTTAAAAAAAACCTAAAGAATAAAACTTCTGAGATGAACATCAAATACTTTCATTTAAAAAAGTTATTTCAAGAAAAAACCTTTCTTACAATGACAAAATAAAGCATGAATACACTTGTAAAAATAAATAAAATAGGGTATAATGTTAATGTGAATTGCTTCAAAATTCAGTGCTTTAATTCCTACATTAAACATTGTACATCTAGAAATCCAAGCTTCTAATAAGATAGAATGGCATCCACTAATTAAAATTAGCCTACCCTTCCATAAGGCTGTCCAATTCAGGTTTTCTGTTATCTTTTGAAGTATGTTTGGTGAAGATTTCTAAAGCAAGGTCTTCATACTGCTGTTTCTGTTCTGAACTGAGGGTCTCTAAAGATTTAAGTTTAATGAAAGCTTTTGAACAAGTCCCAAAGGCTCTGCTGGCGCATGCGCAGAGTGCTAGCAGAGAGTAGATCTCCACAGGAGGGATGATGTCTTCATAGTCTTTCAGGTGAAGAGCTAAGAAAAACAGGGCAATTGGGGTTTTTTAAAATAATTATTATGATATCATGAACATGCAAAAGAAGAATCTAAGTTAAGGTGATTTCATTGAACTTGCATGAACGAACTGAAAGCAAACAGTGTTGAGAGATGGGAGCACCAAGAGGAGGAACTAGGCTACATGATATCCAAGGTTCTGTGAAGCTGGCTAACAGCTCATCCTATGAAAAGAACCACCACCAAATGCTGCACATGGCTGTGCCAGCTCAGAAATACACACACACACACAAAATTTTGGTGTCAAAACATCCACATTTTCTTCAATTTATGTTAGAAATTTCTGTGGCACTTCATAAAAAGCAAATGAGTATTATACTATGTTAGTCATAAACTGCAAGATAATACCATGTTTCCTTTTGTTAAAAAAAAAGCAAAACAATATAAGCAAAACAGTATAAAATAATATGTTCTTTTCTCTGTGTTTCTTTGGACAGATTATTGCTTTTGTATTACTGCTTTTGTCATTTGTCTCACTGAAACAATAGGATTTTGTGAAAAAGTGAAAATGAGTCTCCAAGTTGTCAGTTGAGACAATTCAAGTTACAACATCTTATTTGCAATTATACTGGAGATGAAAAAATCTTTCTTTAAAATGCACTGTATTCTTGGGCCTGTTGGGGGTGGGGGGCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAAGCCTGCACGTTCTGTACATGTACCCCAGAACTTAAAGTATAATAAAAAAAGCAGACTTAATATTAGATTTAATATTAAGATTTAATATTAGATTTATAACCAATTTGTATCTTTTTCTTCTCTAGACCTTGGAATCTTAAAAATACTTTGTTATAGTATATCAAAAACTTCATAAAACCAGTTTAAACAATATATTCATGTGTTTTACAATCAGAATCCTATAAACTGGTTCTGGGGTCAAGTATTTACAACAAAGTGTAGTAGAAAAAATGTATATAAAATGTAATCACTCAGTTACAATAAACAATATCCTCTAATTTCATATCCAAAGCATGATAGGTTCAAGGGTAATAATTTACAGGTCATACATTGTTTCAGATCGTCTTACCACTGACAAAAAAAAAAAAAATGAGGCATATAGAGATCTTCACCTAGTAGGTGAAGCATCTCAAGTTAAAGATCTAATTGTTCTTTTAAGTCTAGAAATGGTGTATAAATTGAATATGATACAGCTATTTTAAACAGTGTATAATTTATGTCACATATTAGTTAAAACTAAATGAAGGTCAGTTATAAAATAAACATAAAAATAATTTTTATATATAACTAATAACCAATTAGAAAAAAAATTTACAACCTCATTAATGACAA
Task1_train_3127
Gene WDR35 (WD repeat domain 35) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Cranioectodermal dysplasia 2
TACCTTCAGAGGGTCACTGGAGATGAAAATGATCAAGCAGGGAATATCAACATTAAATATTCATCTCCTAATTCTCAAAGAAAATGTGCTTTATCAGTGAATTAAAACTTTGCACACAGATGGCATCTTTTTCTCTCAAATAATCTGAAGATTTACAGCTTAGATAAAGGTATGAATCTAGAATTCTTAACAACACTCAAATGGATAAAAATATATTGTTATTAGCTGTCAAACAATAACTTATCTCCTAAATAATAATATAGAATATTATGTCCTTAAGGAACATACTATTAAATATAATAGTATGTAAAACAGATCTTCCCTGCTTTGAAGAGATCATGTTCTTACATGATCAATAAGCAGCTAGAAAAGCAAATGAGCAGAGTAGCTAAACCAGCTGCGACCACAGTAAGCCAGTGTCCTTGTGAATGAAAAGAACAGAACAGCATCATTTATAAAGAAATCCAGACAGTGGGAAGGTTTTAAGAAATCCATCTAGCTCTAAATCTAACAGAAATCGAACTACATGCCAAACCAGAAAACAAATTCAAATTAAAAAACAGTATGTTTTTAAAAGGCTGTTCTGTTAAAACTACTTAAGAAACTCTTTCCACCAGGCAAAGATTTCACTTGGTACCAGACTGACCATGTGTGCTATAGACACATTATGAGCAGCCAGATACAACAAACATTCTCCCTTCTCCAGGCATATGATTTGTGATTTAGTATGAGCAGGGCTAAGGATAGAAAAAGACTCTAACATTCAAAAAGTATTCTACTCCCATCCTCAAGGTTATCCTGTGGATTACCTGTCAAATTCCCACAATTGTTTTGTGGCAAGGATTAAATTTCCCTTGGACCCTTGAAAGAAGCCCATGCTTACAGGTCAAATGCAGCAGCCCTGAATCTGAATGCCTTTCCTTTGAACTATTTCTCAGGGTCGAAGAATCACAAAGATCCTAAGACTTGCAAAAGCTTTAACAGAGCCTTTGAGAGCACTTTACATCAGGGCATTTTACATCCAAAATTCCTGAGTAGGGCTCAAATGGGGAAATGTGAAAATAATTTAGGATATTAAAGGGGCAAACAGTTTACCACTAAATAAATTACTCCAGAAACCCTTTGGCAGCTCAGGGGCCCAAGCATGCAATTTCTTCCCAAGAAGGAAGCTATACATGCAAACAAATGGAAATTAATGATATAAAGCATTTATTAACTTATTCCTTATTATTTACAAGAGTAGAGTGCAGCAGAAGTACAGAAAATTCCAAATTGAAAATCCATTACTAATTCAAAAGTCATTTAAAAGATTTATCTTCTTAATGATGTTTTGATTAGGTTACCACTCGGATTATTTTGTATTTCCTAAATACAACAGCTGAGAGTTGGCCAGAGTAGACTAAGTGACAGGAAAATCCAGAGCATAGAAATTAGCTGATGTGAGCCACAAGCAGAAAATCAAAATGTAACCTTAAAAATGAGAACAAAGGGGACTTCCTCATACCCAAAAGAGAGATTAATCCCTGCCTGCACTTGCATATTTGTAAGAATATCTGGGTTAAGAAAGAACACAGATTTGTGAACGATATGGTAAATGTAAATATAAATAAGACAAAGTAAGCACAGAATTAAGTGAATAAAGAGACAGAAAAGAATGAATGGACAAGGAAATTTGAAAACTATATTTTTTTATTAGGTTCTTTTCAGAAATTCTGGTAAATAAGGCTACTGATTTTGTTTTCTTAAGTTTGACAAGGGAAAAAAAGACTAGTGACCATGGCTCCACCTTTTAAAAAGAACAGATAAATAAATGCCTAGGAAGTACCTTTCAGAGAAAGTAGAGAATATTTAATAGATAAGTATTTTCTCACCTAAGACCAAATATTTTTAAAATCCACAGAAATGTTCCTATTTATTTTCAGAAATTCATGCAGCCGTGTTGGCACTGCTATTCAACAAACTTCTTAAAGAAACAAAGGGGAATCATCCAGGTTTTTATATTTGGCTCATTATTTATAGACTGTTAACACTCATTTCTTGTTTTTACCTCAGGATCCAAGTTTCTGAAAACATACATTCTTGTCTTCTCCATCATTGCAAACAAATCAGGATTATCTTTGGCCCACTTCATATCCCAGACATCTCTTCGTTCCAATTTTAACAACTCTCCAACTACTTGCTGTCCCGTACTGTCCGTTACTCGAGCATCCAAGTCAAAGAAAGTCAGAACTCCTGAGATGTCTATGATAGCAAGACGGCTAAAAACAATGCAATTAGAGAAAAGGAAAAAACTATAAAATTACTATCAGCAATCATGAGAATAATTACCTATAGCCATTCTTCTTCAAAATCAGATTATCAGAAACCTGGAATACAGTAGAAATGGCTTAAAATTTTGTTAAATAAATTTGATACAAGATATGGACTACTCTCTATTTTGCTCTCTTCTGAGGAAAATGTATCCAGAGACAAAACCAATTGGTATGAAATATAAAATAGTCTCAATGCTTTTAAGCTTTAAGAGTAAAAAATTATACTAGTACTTCCACACGCCCAATTAAAAACATTTAAACCAAATGCAGTATAAAATAAAACCATACTGAATTTTAAGACAAGTTCATAATAGACACGCCCATCTTTACATTTATTACATATAAATCTAACAATCCCAACTGATCATTTCTAAGTCTAACATCTACATGAGCAGAGTTTTCAGGCTTACCTAGAGTTGCAATTCAAGGATAACTGGTAGGCTCGACAATTAAGGGAATATTTTTGAATCAAACCAACATTAGGTAGACTGTATCTCTGAATGGTGCCAGATTCACGACCCTATGGAAATTACTTTTGATTACTTAAGCATACGTGTATCATAATAATATTAAACTACAACTATTTCTCTATATGTCTATACATTTGTCTTAAAACCAAAGTGATGTCACAGCAAATTCTCAATTCTGATAATGAATCATGTCCTTAAGTACATATTTACCTACTAATTTAATTAAACCTTTTTCAAACAGCTGAAGTATTCTAATTTTTTTTCATGTAATATTCAAGAAAGAAGTCAGAAACCTAGCACTTTGGCAATACACAAATTCTTACATCACAAGGAAAAAAAATCTAAAGTTATTTATATTTGTTATCTAGGTTAATATTCAGGGCACATTAAAAGCTAAAGCAAAGTACTTGTTGAGTTAAATTACATATGTATATGAAAAATCAACAGAAGATCATATGATATAGCTGTTACTGAAGGTCTAGGTTTTTATCCTATAGTCATCTATCTGATACTAGTTTTTAGCAAAAGGAAAGATGATCTGAATGCAGGGATACTATGAATATTAGTTTAAATAAGTTTAAAAAATAAAGCAGCATATAATTTTGTACACAACTCAGGGCAAATCTTAAGGTTGACATATCAACAGTAAGTATAATGCCATGAGAGAACTGTGGGTTTCAAACCCTTGGCTGCCTCAGGCCATGGCAGTGGGACAAAGTGGAAGCCTCCACACAGCTGATCTTTAACTCTCTTCTTTTTAATCAGAGAACCACTGCTTTTGCAGCATGAGTCTCATGAGGGCTTATCAGAAAGGAGGGAATACTATAGAAATACTATGCTCTTAAGATTTTTCCCCCCATAAAATTAGCTCATGGCTGAGGAATGTAACTAGAACTAGAATATATACTATTAAGGTTTTGTTTACATAATTCAAATGCAATAACCCCAGCAGCATTACTGTATAAAAGTAAACATTAATTTCTAAAATTAATATTTTCAAATCTCAGAGCTCAAGAAAAGACACTATGCCATTGATTCTATTTGAAAAATTCAGCTGAAATTTGCCATAGGCTTCTCTATTTTACTGGCTGGCAAACATGTTACCTCGTCATTCTAAGTCTTATGAAAGTGGCTGAGCCAAAGCACTTTCTCCAACATAAAATATCGGGCTACACAAAGGAGGAAACTTTCTAATACCTACTACCACCATGCAATCTGCCCCACCACCATGCAATCTTCCACAGGGCTCATTCCACTCAGTGTTAGAAACTGTAAGTGTACTCTGTCTTCTCGGCTGGTCATCCCTGTACTGCT
TACCTTCAGAGGGTCACTGGAGATGAAAATGATCAAGCAGGGAATATCAACATTAAATATTCATCTCCTAATTCTCAAAGAAAATGTGCTTTATCAGTGAATTAAAACTTTGCACACAGATGGCATCTTTTTCTCTCAAATAATCTGAAGATTTACAGCTTAGATAAAGGTATGAATCTAGAATTCTTAACAACACTCAAATGGATAAAAATATATTGTTATTAGCTGTCAAACAATAACTTATCTCCTAAATAATAATATAGAATATTATGTCCTTAAGGAACATACTATTAAATATAATAGTATGTAAAACAGATCTTCCCTGCTTTGAAGAGATCATGTTCTTACATGATCAATAAGCAGCTAGAAAAGCAAATGAGCAGAGTAGCTAAACCAGCTGCGACCACAGTAAGCCAGTGTCCTTGTGAATGAAAAGAACAGAACAGCATCATTTATAAAGAAATCCAGACAGTGGGAAGGTTTTAAGAAATCCATCTAGCTCTAAATCTAACAGAAATCGAACTACATGCCAAACCAGAAAACAAATTCAAATTAAAAAACAGTATGTTTTTAAAAGGCTGTTCTGTTAAAACTACTTAAGAAACTCTTTCCACCAGGCAAAGATTTCACTTGGTACCAGACTGACCATGTGTGCTATAGACACATTATGAGCAGCCAGATACAACAAACATTCTCCCTTCTCCAGGCATATGATTTGTGATTTAGTATGAGCAGGGCTAAGGATAGAAAAAGACTCTAACATTCAAAAAGTATTCTACTCCCATCCTCAAGGTTATCCTGTGGATTACCTGTCAAATTCCCACAATTGTTTTGTGGCAAGGATTAAATTTCCCTTGGACCCTTGAAAGAAGCCCATGCTTACAGGTCAAATGCAGCAGCCCTGAATCTGAATGCCTTTCCTTTGAACTATTTCTCAGGGTCGAAGAATCACAAAGATCCTAAGACTTGCAAAAGCTTTAACAGAGCCTTTGAGAGCACTTTACATCAGGGCATTTTACATCCAAAATTCCTGAGTAGGGCTCAAATGGGGAAATGTGAAAATAATTTAGGATATTAAAGGGGCAAACAGTTTACCACTAAATAAATTACTCCAGAAACCCTTTGGCAGCTCAGGGGCCCAAGCATGCAATTTCTTCCCAAGAAGGAAGCTATACATGCAAACAAATGGAAATTAATGATATAAAGCATTTATTAACTTATTCCTTATTATTTACAAGAGTAGAGTGCAGCAGAAGTACAGAAAATTCCAAATTGAAAATCCATTACTAATTCAAAAGTCATTTAAAAGATTTATCTTCTTAATGATGTTTTGATTAGGTTACCACTCGGATTATTTTGTATTTCCTAAATACAACAGCTGAGAGTTGGCCAGAGTAGACTAAGTGACAGGAAAATCCAGAGCATAGAAATTAGCTGATGTGAGCCACAAGCAGAAAATCAAAATGTAACCTTAAAAATGAGAACAAAGGGGACTTCCTCATACCCAAAAGAGAGATTAATCCCTGCCTGCACTTGCATATTTGTAAGAATATCTGGGTTAAGAAAGAACACAGATTTGTGAACGATATGGTAAATGTAAATATAAATAAGACAAAGTAAGCACAGAATTAAGTGAATAAAGAGACAGAAAAGAATGAATGGACAAGGAAATTTGAAAACTATATTTTTTTATTAGGTTCTTTTCAGAAATTCTGGTAAATAAGGCTACTGATTTTGTTTTCTTAAGTTTGACAAGGGAAAAAAAGACTAGTGACCATGGCTCCACCTTTTAAAAAGAACAGATAAATAAATGCCTAGGAAGTACCTTTCAGAGAAAGTAGAGAATATTTAATAGATAAGTATTTTCTCACCTAAGACCAAATATTTTTAAAATCCACAGAAATGTTCCTATTTATTTTCAGAAATTCATGCAGCCGTGTTGGCACTGCTATTCAACAAACTTCTTAAAGAAACAAAGGGGAATCATCCAGGTTTTTATATTTGGCTCATTATTTATAGACTGTTAACACTCATTTCTTGTTTTTACCCCAGGATCCAAGTTTCTGAAAACATACATTCTTGTCTTCTCCATCATTGCAAACAAATCAGGATTATCTTTGGCCCACTTCATATCCCAGACATCTCTTCGTTCCAATTTTAACAACTCTCCAACTACTTGCTGTCCCGTACTGTCCGTTACTCGAGCATCCAAGTCAAAGAAAGTCAGAACTCCTGAGATGTCTATGATAGCAAGACGGCTAAAAACAATGCAATTAGAGAAAAGGAAAAAACTATAAAATTACTATCAGCAATCATGAGAATAATTACCTATAGCCATTCTTCTTCAAAATCAGATTATCAGAAACCTGGAATACAGTAGAAATGGCTTAAAATTTTGTTAAATAAATTTGATACAAGATATGGACTACTCTCTATTTTGCTCTCTTCTGAGGAAAATGTATCCAGAGACAAAACCAATTGGTATGAAATATAAAATAGTCTCAATGCTTTTAAGCTTTAAGAGTAAAAAATTATACTAGTACTTCCACACGCCCAATTAAAAACATTTAAACCAAATGCAGTATAAAATAAAACCATACTGAATTTTAAGACAAGTTCATAATAGACACGCCCATCTTTACATTTATTACATATAAATCTAACAATCCCAACTGATCATTTCTAAGTCTAACATCTACATGAGCAGAGTTTTCAGGCTTACCTAGAGTTGCAATTCAAGGATAACTGGTAGGCTCGACAATTAAGGGAATATTTTTGAATCAAACCAACATTAGGTAGACTGTATCTCTGAATGGTGCCAGATTCACGACCCTATGGAAATTACTTTTGATTACTTAAGCATACGTGTATCATAATAATATTAAACTACAACTATTTCTCTATATGTCTATACATTTGTCTTAAAACCAAAGTGATGTCACAGCAAATTCTCAATTCTGATAATGAATCATGTCCTTAAGTACATATTTACCTACTAATTTAATTAAACCTTTTTCAAACAGCTGAAGTATTCTAATTTTTTTTCATGTAATATTCAAGAAAGAAGTCAGAAACCTAGCACTTTGGCAATACACAAATTCTTACATCACAAGGAAAAAAAATCTAAAGTTATTTATATTTGTTATCTAGGTTAATATTCAGGGCACATTAAAAGCTAAAGCAAAGTACTTGTTGAGTTAAATTACATATGTATATGAAAAATCAACAGAAGATCATATGATATAGCTGTTACTGAAGGTCTAGGTTTTTATCCTATAGTCATCTATCTGATACTAGTTTTTAGCAAAAGGAAAGATGATCTGAATGCAGGGATACTATGAATATTAGTTTAAATAAGTTTAAAAAATAAAGCAGCATATAATTTTGTACACAACTCAGGGCAAATCTTAAGGTTGACATATCAACAGTAAGTATAATGCCATGAGAGAACTGTGGGTTTCAAACCCTTGGCTGCCTCAGGCCATGGCAGTGGGACAAAGTGGAAGCCTCCACACAGCTGATCTTTAACTCTCTTCTTTTTAATCAGAGAACCACTGCTTTTGCAGCATGAGTCTCATGAGGGCTTATCAGAAAGGAGGGAATACTATAGAAATACTATGCTCTTAAGATTTTTCCCCCCATAAAATTAGCTCATGGCTGAGGAATGTAACTAGAACTAGAATATATACTATTAAGGTTTTGTTTACATAATTCAAATGCAATAACCCCAGCAGCATTACTGTATAAAAGTAAACATTAATTTCTAAAATTAATATTTTCAAATCTCAGAGCTCAAGAAAAGACACTATGCCATTGATTCTATTTGAAAAATTCAGCTGAAATTTGCCATAGGCTTCTCTATTTTACTGGCTGGCAAACATGTTACCTCGTCATTCTAAGTCTTATGAAAGTGGCTGAGCCAAAGCACTTTCTCCAACATAAAATATCGGGCTACACAAAGGAGGAAACTTTCTAATACCTACTACCACCATGCAATCTGCCCCACCACCATGCAATCTTCCACAGGGCTCATTCCACTCAGTGTTAGAAACTGTAAGTGTACTCTGTCTTCTCGGCTGGTCATCCCTGTACTGCT
Task1_train_3128
Mutation context: Chromosome 2, Gene WDR35 (WD repeat domain 35). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Cranioectodermal dysplasia 2
AAAGACTCTAACATTCAAAAAGTATTCTACTCCCATCCTCAAGGTTATCCTGTGGATTACCTGTCAAATTCCCACAATTGTTTTGTGGCAAGGATTAAATTTCCCTTGGACCCTTGAAAGAAGCCCATGCTTACAGGTCAAATGCAGCAGCCCTGAATCTGAATGCCTTTCCTTTGAACTATTTCTCAGGGTCGAAGAATCACAAAGATCCTAAGACTTGCAAAAGCTTTAACAGAGCCTTTGAGAGCACTTTACATCAGGGCATTTTACATCCAAAATTCCTGAGTAGGGCTCAAATGGGGAAATGTGAAAATAATTTAGGATATTAAAGGGGCAAACAGTTTACCACTAAATAAATTACTCCAGAAACCCTTTGGCAGCTCAGGGGCCCAAGCATGCAATTTCTTCCCAAGAAGGAAGCTATACATGCAAACAAATGGAAATTAATGATATAAAGCATTTATTAACTTATTCCTTATTATTTACAAGAGTAGAGTGCAGCAGAAGTACAGAAAATTCCAAATTGAAAATCCATTACTAATTCAAAAGTCATTTAAAAGATTTATCTTCTTAATGATGTTTTGATTAGGTTACCACTCGGATTATTTTGTATTTCCTAAATACAACAGCTGAGAGTTGGCCAGAGTAGACTAAGTGACAGGAAAATCCAGAGCATAGAAATTAGCTGATGTGAGCCACAAGCAGAAAATCAAAATGTAACCTTAAAAATGAGAACAAAGGGGACTTCCTCATACCCAAAAGAGAGATTAATCCCTGCCTGCACTTGCATATTTGTAAGAATATCTGGGTTAAGAAAGAACACAGATTTGTGAACGATATGGTAAATGTAAATATAAATAAGACAAAGTAAGCACAGAATTAAGTGAATAAAGAGACAGAAAAGAATGAATGGACAAGGAAATTTGAAAACTATATTTTTTTATTAGGTTCTTTTCAGAAATTCTGGTAAATAAGGCTACTGATTTTGTTTTCTTAAGTTTGACAAGGGAAAAAAAGACTAGTGACCATGGCTCCACCTTTTAAAAAGAACAGATAAATAAATGCCTAGGAAGTACCTTTCAGAGAAAGTAGAGAATATTTAATAGATAAGTATTTTCTCACCTAAGACCAAATATTTTTAAAATCCACAGAAATGTTCCTATTTATTTTCAGAAATTCATGCAGCCGTGTTGGCACTGCTATTCAACAAACTTCTTAAAGAAACAAAGGGGAATCATCCAGGTTTTTATATTTGGCTCATTATTTATAGACTGTTAACACTCATTTCTTGTTTTTACCTCAGGATCCAAGTTTCTGAAAACATACATTCTTGTCTTCTCCATCATTGCAAACAAATCAGGATTATCTTTGGCCCACTTCATATCCCAGACATCTCTTCGTTCCAATTTTAACAACTCTCCAACTACTTGCTGTCCCGTACTGTCCGTTACTCGAGCATCCAAGTCAAAGAAAGTCAGAACTCCTGAGATGTCTATGATAGCAAGACGGCTAAAAACAATGCAATTAGAGAAAAGGAAAAAACTATAAAATTACTATCAGCAATCATGAGAATAATTACCTATAGCCATTCTTCTTCAAAATCAGATTATCAGAAACCTGGAATACAGTAGAAATGGCTTAAAATTTTGTTAAATAAATTTGATACAAGATATGGACTACTCTCTATTTTGCTCTCTTCTGAGGAAAATGTATCCAGAGACAAAACCAATTGGTATGAAATATAAAATAGTCTCAATGCTTTTAAGCTTTAAGAGTAAAAAATTATACTAGTACTTCCACACGCCCAATTAAAAACATTTAAACCAAATGCAGTATAAAATAAAACCATACTGAATTTTAAGACAAGTTCATAATAGACACGCCCATCTTTACATTTATTACATATAAATCTAACAATCCCAACTGATCATTTCTAAGTCTAACATCTACATGAGCAGAGTTTTCAGGCTTACCTAGAGTTGCAATTCAAGGATAACTGGTAGGCTCGACAATTAAGGGAATATTTTTGAATCAAACCAACATTAGGTAGACTGTATCTCTGAATGGTGCCAGATTCACGACCCTATGGAAATTACTTTTGATTACTTAAGCATACGTGTATCATAATAATATTAAACTACAACTATTTCTCTATATGTCTATACATTTGTCTTAAAACCAAAGTGATGTCACAGCAAATTCTCAATTCTGATAATGAATCATGTCCTTAAGTACATATTTACCTACTAATTTAATTAAACCTTTTTCAAACAGCTGAAGTATTCTAATTTTTTTTCATGTAATATTCAAGAAAGAAGTCAGAAACCTAGCACTTTGGCAATACACAAATTCTTACATCACAAGGAAAAAAAATCTAAAGTTATTTATATTTGTTATCTAGGTTAATATTCAGGGCACATTAAAAGCTAAAGCAAAGTACTTGTTGAGTTAAATTACATATGTATATGAAAAATCAACAGAAGATCATATGATATAGCTGTTACTGAAGGTCTAGGTTTTTATCCTATAGTCATCTATCTGATACTAGTTTTTAGCAAAAGGAAAGATGATCTGAATGCAGGGATACTATGAATATTAGTTTAAATAAGTTTAAAAAATAAAGCAGCATATAATTTTGTACACAACTCAGGGCAAATCTTAAGGTTGACATATCAACAGTAAGTATAATGCCATGAGAGAACTGTGGGTTTCAAACCCTTGGCTGCCTCAGGCCATGGCAGTGGGACAAAGTGGAAGCCTCCACACAGCTGATCTTTAACTCTCTTCTTTTTAATCAGAGAACCACTGCTTTTGCAGCATGAGTCTCATGAGGGCTTATCAGAAAGGAGGGAATACTATAGAAATACTATGCTCTTAAGATTTTTCCCCCCATAAAATTAGCTCATGGCTGAGGAATGTAACTAGAACTAGAATATATACTATTAAGGTTTTGTTTACATAATTCAAATGCAATAACCCCAGCAGCATTACTGTATAAAAGTAAACATTAATTTCTAAAATTAATATTTTCAAATCTCAGAGCTCAAGAAAAGACACTATGCCATTGATTCTATTTGAAAAATTCAGCTGAAATTTGCCATAGGCTTCTCTATTTTACTGGCTGGCAAACATGTTACCTCGTCATTCTAAGTCTTATGAAAGTGGCTGAGCCAAAGCACTTTCTCCAACATAAAATATCGGGCTACACAAAGGAGGAAACTTTCTAATACCTACTACCACCATGCAATCTGCCCCACCACCATGCAATCTTCCACAGGGCTCATTCCACTCAGTGTTAGAAACTGTAAGTGTACTCTGTCTTCTCGGCTGGTCATCCCTGTACTGCTTTCATAAATAGCTGTTTTTGCAAATGGTTAATTATTAGCGAGGAAAGCTTTAAAACTTTCTTATTTCTCATACTGAACTTATATTAAGGGTACAGTAAAACTTGGGGTGCCCATAAGATGATATTCAAAACTTTACTGTAATTTTTTTTTTTAGAGACAAGGTTTCACTATGTTCTCAGTCTGGTCTCCATTTCCTGGCCTCAAGCAATCCTCCTGCTTCAGCTTCCCAAGTAACTGTGATTACAGACATGGGGCACACACCTGGCTCCTACCATATTTTTATAATTTAAAGAATTATTATTCATAAAATAAGTTTTTGCAAAACTTACCACAATCAATATCTTATCTGATGCAGTTATGGCACAAATTGGATCCCTTGTGCCCTAAAATAAATTAATCAATCATTACTATTCAACAAACATTTATTGAATAACTAACCTGGTACAACGTAGTATGCAATTCACTAAGCAGTCAATATTTCTTAACTTAACCAACATTTATTTACTGCTGAGCACCTACTATGTGCCAACCACTGAACTAAGCACTAGAGATACTCAGATGAAATCTTCATCTTCAGAGATTACTGAAAAGTCTATTGAGGAAGACAGTGAACTAAACACCTCATTGCAGGACAGTATGATAAAAGAAGAGACAGAAACAGAGGTTATGACAGTGCAGAGAAAGGAGTACCTAACTTACACCAAGACAGGCAAAAACCTGAGCTCAGGCCTAAAAGAGAAACAGACAGC
AAAGACTCTAACATTCAAAAAGTATTCTACTCCCATCCTCAAGGTTATCCTGTGGATTACCTGTCAAATTCCCACAATTGTTTTGTGGCAAGGATTAAATTTCCCTTGGACCCTTGAAAGAAGCCCATGCTTACAGGTCAAATGCAGCAGCCCTGAATCTGAATGCCTTTCCTTTGAACTATTTCTCAGGGTCGAAGAATCACAAAGATCCTAAGACTTGCAAAAGCTTTAACAGAGCCTTTGAGAGCACTTTACATCAGGGCATTTTACATCCAAAATTCCTGAGTAGGGCTCAAATGGGGAAATGTGAAAATAATTTAGGATATTAAAGGGGCAAACAGTTTACCACTAAATAAATTACTCCAGAAACCCTTTGGCAGCTCAGGGGCCCAAGCATGCAATTTCTTCCCAAGAAGGAAGCTATACATGCAAACAAATGGAAATTAATGATATAAAGCATTTATTAACTTATTCCTTATTATTTACAAGAGTAGAGTGCAGCAGAAGTACAGAAAATTCCAAATTGAAAATCCATTACTAATTCAAAAGTCATTTAAAAGATTTATCTTCTTAATGATGTTTTGATTAGGTTACCACTCGGATTATTTTGTATTTCCTAAATACAACAGCTGAGAGTTGGCCAGAGTAGACTAAGTGACAGGAAAATCCAGAGCATAGAAATTAGCTGATGTGAGCCACAAGCAGAAAATCAAAATGTAACCTTAAAAATGAGAACAAAGGGGACTTCCTCATACCCAAAAGAGAGATTAATCCCTGCCTGCACTTGCATATTTGTAAGAATATCTGGGTTAAGAAAGAACACAGATTTGTGAACGATATGGTAAATGTAAATATAAATAAGACAAAGTAAGCACAGAATTAAGTGAATAAAGAGACAGAAAAGAATGAATGGACAAGGAAATTTGAAAACTATATTTTTTTATTAGGTTCTTTTCAGAAATTCTGGTAAATAAGGCTACTGATTTTGTTTTCTTAAGTTTGACAAGGGAAAAAAAGACTAGTGACCATGGCTCCACCTTTTAAAAAGAACAGATAAATAAATGCCTAGGAAGTACCTTTCAGAGAAAGTAGAGAATATTTAATAGATAAGTATTTTCTCACCTAAGACCAAATATTTTTAAAATCCACAGAAATGTTCCTATTTATTTTCAGAAATTCATGCAGCCGTGTTGGCACTGCTATTCAACAAACTTCTTAAAGAAACAAAGGGGAATCATCCAGGTTTTTATATTTGGCTCATTATTTATAGACTGTTAACACTCATTTCTTGTTTTTACCTCAGGATCCAAGTTTCTGAAAACATACATTCTTGTCTTCTCCATCATTGCAAACAAATCAGGATTATCTTTGGCCCACTTCATATCCCAGACATCTCTTCGTTCCAATTTTAACAACTCTCCAACTACTTGCTGTCCCGTACTGTCCGTTACTCGAGCATCCAAGTCAAAGAAAGTCAGAACTCCTGAGATGTCTATGATAGCAAGACGGCTAAAAACAATGCAATTAGAGAAAAGGAAAAAACTATAAAATTACTATCAGCAATCATGAGAATAATTACCTATAGCCATTCTTCTTCAAAATCAGATTATCAGAAACCTGGAATACAGTAGAAATGGCTTAAAATTTTGTTAAATAAATTTGATACAAGATATGGACTACTCTCTATTTTGCTCTCTTCTGAGGAAAATGTATCCAGAGACAAAACCAATTGGTATGAAATATAAAATAGTCTCAATGCTTTTAAGCTTTAAGAGTAAAAAATTATACTAGTACTTCCACACGCCCAATTAAAAACATTTAAACCAAATGCAGTATAAAATAAAACCATACTGAATTTTAAGACAAGTTCATAATAGACACGCCCATCTTTACATTTATTACATATAAATCTAACAATCCCAACTGATCATTTCTAAGTCTAACATCTACATGAGCAGAGTTTTCAGGCTTACCTAGAGTTGCAATTCAAGGATAACTGGTAGGCTCGACAATTAAGGGAATATTTTTGAATCAAACCAACATTAGGTGGACTGTATCTCTGAATGGTGCCAGATTCACGACCCTATGGAAATTACTTTTGATTACTTAAGCATACGTGTATCATAATAATATTAAACTACAACTATTTCTCTATATGTCTATACATTTGTCTTAAAACCAAAGTGATGTCACAGCAAATTCTCAATTCTGATAATGAATCATGTCCTTAAGTACATATTTACCTACTAATTTAATTAAACCTTTTTCAAACAGCTGAAGTATTCTAATTTTTTTTCATGTAATATTCAAGAAAGAAGTCAGAAACCTAGCACTTTGGCAATACACAAATTCTTACATCACAAGGAAAAAAAATCTAAAGTTATTTATATTTGTTATCTAGGTTAATATTCAGGGCACATTAAAAGCTAAAGCAAAGTACTTGTTGAGTTAAATTACATATGTATATGAAAAATCAACAGAAGATCATATGATATAGCTGTTACTGAAGGTCTAGGTTTTTATCCTATAGTCATCTATCTGATACTAGTTTTTAGCAAAAGGAAAGATGATCTGAATGCAGGGATACTATGAATATTAGTTTAAATAAGTTTAAAAAATAAAGCAGCATATAATTTTGTACACAACTCAGGGCAAATCTTAAGGTTGACATATCAACAGTAAGTATAATGCCATGAGAGAACTGTGGGTTTCAAACCCTTGGCTGCCTCAGGCCATGGCAGTGGGACAAAGTGGAAGCCTCCACACAGCTGATCTTTAACTCTCTTCTTTTTAATCAGAGAACCACTGCTTTTGCAGCATGAGTCTCATGAGGGCTTATCAGAAAGGAGGGAATACTATAGAAATACTATGCTCTTAAGATTTTTCCCCCCATAAAATTAGCTCATGGCTGAGGAATGTAACTAGAACTAGAATATATACTATTAAGGTTTTGTTTACATAATTCAAATGCAATAACCCCAGCAGCATTACTGTATAAAAGTAAACATTAATTTCTAAAATTAATATTTTCAAATCTCAGAGCTCAAGAAAAGACACTATGCCATTGATTCTATTTGAAAAATTCAGCTGAAATTTGCCATAGGCTTCTCTATTTTACTGGCTGGCAAACATGTTACCTCGTCATTCTAAGTCTTATGAAAGTGGCTGAGCCAAAGCACTTTCTCCAACATAAAATATCGGGCTACACAAAGGAGGAAACTTTCTAATACCTACTACCACCATGCAATCTGCCCCACCACCATGCAATCTTCCACAGGGCTCATTCCACTCAGTGTTAGAAACTGTAAGTGTACTCTGTCTTCTCGGCTGGTCATCCCTGTACTGCTTTCATAAATAGCTGTTTTTGCAAATGGTTAATTATTAGCGAGGAAAGCTTTAAAACTTTCTTATTTCTCATACTGAACTTATATTAAGGGTACAGTAAAACTTGGGGTGCCCATAAGATGATATTCAAAACTTTACTGTAATTTTTTTTTTTAGAGACAAGGTTTCACTATGTTCTCAGTCTGGTCTCCATTTCCTGGCCTCAAGCAATCCTCCTGCTTCAGCTTCCCAAGTAACTGTGATTACAGACATGGGGCACACACCTGGCTCCTACCATATTTTTATAATTTAAAGAATTATTATTCATAAAATAAGTTTTTGCAAAACTTACCACAATCAATATCTTATCTGATGCAGTTATGGCACAAATTGGATCCCTTGTGCCCTAAAATAAATTAATCAATCATTACTATTCAACAAACATTTATTGAATAACTAACCTGGTACAACGTAGTATGCAATTCACTAAGCAGTCAATATTTCTTAACTTAACCAACATTTATTTACTGCTGAGCACCTACTATGTGCCAACCACTGAACTAAGCACTAGAGATACTCAGATGAAATCTTCATCTTCAGAGATTACTGAAAAGTCTATTGAGGAAGACAGTGAACTAAACACCTCATTGCAGGACAGTATGATAAAAGAAGAGACAGAAACAGAGGTTATGACAGTGCAGAGAAAGGAGTACCTAACTTACACCAAGACAGGCAAAAACCTGAGCTCAGGCCTAAAAGAGAAACAGACAGC
Task1_train_3129
Consider a variant on Chromosome 2 in gene WDR35 (WD repeat domain 35). Determine its clinical classification and disease relevance.
Pathogenic; Short-rib thoracic dysplasia 7 with or without polydactyly
CATTTTCCCAAGGAAACCAATGGAAGAAAAAAACTCAAAGTTTTAACCTAGGAGGGTCTGATCTATCTGTCTTGCTACCTGTATGAAATTAAAGGTGAACCAGCAAGCCCTCTACAGTACTCTTGGTATTGACCCATCCATAAGAGGAGGAGAATACGACCATCTTCTAACTGCAAACCAGCCAGGATGTGGCAGCAGCAAGGAAAGAAAACCACCTTTTAGTAAGCCCTCATTACATGCCAGGCACTGTGTAGGCATTTCCTCATTGTAATCTCCTTTAATCTTTACAACAGCACCATGACGTATTTCCTTTATTTCTGAAAATAACTAAACTGTGTCTCAGAGGCTAAATAACTTCTCTACGTCAAACTACACTGTGGAAAATGAATTCAATACCAGATCAACTTGACTACAAACCCTATGCTCTGTTATCTCCTACCATGGCTAAGACCACAGTGCAAAACCCAGGAGCCCCTGGCCCTCAGAATTTAAAAGCAAATTCTTCTCTGAGGTTTTCTTAAGTTTAAATCATTAAGTTTAAATTGTTAGATAACTTCCATCCAGGTTATCTTTCCTACCTTAACAATAACACAGATCCAAATAATTCCCCATATATTCACTCACTCAGAAAATACTGACTACTATGACCTGAGGAACTATGCTAGATACTTTTAGTTACAGCTAAACCAAACCCCACTTACAGTTTTCCGTTTAACACTTAACACATTGTTTTGCAAGACAAACAAACAGACTTTAGAACCCATGTTTTTCTACCTGGGGAAGGCTGAACTAACAAAAATAAGCAGATAAAACATTATGATAAATAAGTAAATGGCAACCAACAAAAATAACCAATAAAGAACAAGAATTAAGAAGGAGGCTATAAATATAGAAATAATTAGAATGCAGATTTTTAATTATTTAGGAACCTTGAAAACTATGCTTTTTTTTTTCCTTCACTTTTACATCTACGAGAAATATTGTCGTTTGACAATGTATAGAGAGCATCTACGTTCTACAGTATATTCTACTGGGTAACTTTGAGATACTGATTCAAAAGCATCAGAAGACATCATTTCTTGCCCTAAAAGAAATTATTAAAATATATAAAAATAACATTAAAACAACTGGTATAGGCTTTTATGCAGCCAAAAATATATATCACTGTAGTCTATGGCGAATTTATAAAAGCCAACAGGGTATTCAAAAGGGACAAAATATAGTACTGGGTTAGAAAATAAGACATTCAAAAAACGTATTAAGCTTAGTTATTAATAAGCTCTCACTTTCTAAATTCTTTAAAATTCACAATATATTAATTCTCCTACTTGACATTTTCCAATGCTACTTCTGAAAATTCTTTTAAAATTAAATTTATTAAAAATACTATTGAGAAGGATAATACTCATATGTACATTTATGAAAACAATGCTTTTATTTTAATGTAGCATCACCTAAGATTAATTATTAAATTTTCTTCAAATAACTGATTACTTTGCAACAAATTAAAAGTATTAGAAGTTTGAAGGAAGGACAGACAGATATGTATGTTTAACATCTAAACACATTTAAAATATCACATTAAAAATCAGAAAAATTAATCTGAAACAACTATATTATACTAAATACTACTCAAAAGCTGGCTATGAAAAGAGACACATATTCAGATCACAGAGAAAATATTCAAAATAACTACTCCATGGTGATTTCTTATGTTAAACTTCTGGTTTTCTGAATGTATAAAATTGTAATTTTTATTTTATAATTATAAAACTATAAGATTATAAAATTCCATGATAAAATACAACAAAGATTTATACTATGAAGATGAAATGTCCCTAAAAGAAAATGTGATAAGTTTACACCGTTTCCTTTGTTATTTTTTCCTCTACCTTACTCACTGCACATTTAAATAGAAAGAAAGAAGATCAATTTGAATGCATTTACCTCACCAAACGGAGTGTAAAACTGCACAATGTTCACATCTTTGTCCTGCATGGCTGCCTTCTGGAAGCCTGCCACAGCTAACACGCTGCCCATGTGGTTCCACTGGATGCCTACTACGTACATGCCAGTGTCAATCAAAACGGGATCTAGTCAGAAAGAGAAAAATGAGGTCACTGTGGGAAAATACGTAGCCTAGAGAACTTTATAATCTTAAGAACAACTTTTAAACATTTTTAAAACTTTCCACATTTTTAAAAAAACAGGGCTGGGTACAACGGCTCACGCCTATAATCCCAACACTTTAGGAGGCTGAGGCGGGCGGATCACTTGAGTCCAGGAGTTCAAGATCGGCCTGGGCAACATGGTGAAACCCTGTCTCTACGAAAAATACAAAAATTAGCTGGAGGAGTTGGTGCACACCTGTGGTCCCAGCTCCTCAGGAGGCTGAGACCTTGAGCCTGGGAGGCCAAGGCTGCAGTGAGCCAAGAACGCACCACTGCACTCCAGCCTCGGCAACAGAGCAAGACCCTGTCGCAAAAAAAAAAAAGTTAAAAATTAGAAATTGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATAGAGACTATCCTGGCTAACAGGGTGAAACCCCGTCTCTACGAAAAATATAAAAAATTAGCCAGGCATAGTGGCACGCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAATTCGCTTGAACCCGGGAGGCAGAAGTTGCCGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAGAAAAAAAAAAAAATAGAAATTAAAAAAATTTTTTAAACAGAAAAATTCCTTACTTTGGTCATTCTCATGTCTCATTATTTGGCATCTTCCATTATCAAAGCAAACAGCAAGGCAAGGGCAATCAGGCTCCACGTAGCCTTCTGTGCCATGGTACCAATGAATTCCAGCAATGCTGATAGCTCCAGTGACATTCACCAAACAACTCAGTTTCATTTTTATCTAAATAAAATTGGTTAGGTTTAATATTTTACATTTTAAAACACAGCAGTATAGAGACAATACTCAATAGAGTATTGTAGAAAGAACACTGAAAAATACAGTCTAAAAATCAGGTGGCAAATTAAAGCTTAATCACTTACTGGTATACAGGCCATGGACAAATCACCTAAATGTCCATTTTCCCCACATGTAAAAAATGAGGATTAAAAAACACTGAGTTTTTATGAGACTCAAACAACAAGTATATAAAAGTACTTTGAAAACAGCAAAATGACATAAAAGTTCATTATTTTACTTCCACCAGTGAGTGGATTTACTTAATGTCCTAACCCTTGCTAAAAAACAAAACTGCCCCACCAGTAATCATACATCTATGATAGCTAAACCTTGCAAAGCCAGAATTTTTCTCCAGATTATGCTGCCTGATCCTATTCTATTTTACCTTCTTTCCAGGGATTGATTTTTCTCACTTACCATTTAAGTCTGTCATTCTTTTTACAAACAACCATTGGTAGCTTGCTACAAAAATACCCTGTGGTATCTACATGTAAACTTTGGCTTCAGACACCAGAAGACACCTATAAAACTTAAACTGCACATCGCCCTACTCATTATCTCTCTGCTTAAATGCACTGACACCTCGTCCTTTCTACCTACCAAAAAAAATTGGAACTAAAAGCTACACTCGAACTTGTTGCACTAATTTGCCTTGAGAAAACCAAAATTTTATTTAATTAAAACAAAATTTAGACGATTGGGAAAAAGAAAAAAAATCTGAATTGAAGACTTTAATTACACAAACCGCCATAAAAAATAAATGTATATACAAACATGAATGATATGTACGATAATCATATAAAATTGTATAAACAAGACTGATGCATACACTTACTTACCATAAAATTTCCTTGATTATCGTAAATGTGTATTTCCCCATTTGCCATTCCAAAAAGTAAGACTTTACTGTCCGCAGACCATGTTACATGGGATAGCTGTATACCCTTCAGGTCTTTTCCCCAAATACGATTGCCTAAAACAAAACATTATTAAAAGTTGTTCAAGGTCATGATCCTCCAAC
CATTTTCCCAAGGAAACCAATGGAAGAAAAAAACTCAAAGTTTTAACCTAGGAGGGTCTGATCTATCTGTCTTGCTACCTGTATGAAATTAAAGGTGAACCAGCAAGCCCTCTACAGTACTCTTGGTATTGACCCATCCATAAGAGGAGGAGAATACGACCATCTTCTAACTGCAAACCAGCCAGGATGTGGCAGCAGCAAGGAAAGAAAACCACCTTTTAGTAAGCCCTCATTACATGCCAGGCACTGTGTAGGCATTTCCTCATTGTAATCTCCTTTAATCTTTACAACAGCACCATGACGTATTTCCTTTATTTCTGAAAATAACTAAACTGTGTCTCAGAGGCTAAATAACTTCTCTACGTCAAACTACACTGTGGAAAATGAATTCAATACCAGATCAACTTGACTACAAACCCTATGCTCTGTTATCTCCTACCATGGCTAAGACCACAGTGCAAAACCCAGGAGCCCCTGGCCCTCAGAATTTAAAAGCAAATTCTTCTCTGAGGTTTTCTTAAGTTTAAATCATTAAGTTTAAATTGTTAGATAACTTCCATCCAGGTTATCTTTCCTACCTTAACAATAACACAGATCCAAATAATTCCCCATATATTCACTCACTCAGAAAATACTGACTACTATGACCTGAGGAACTATGCTAGATACTTTTAGTTACAGCTAAACCAAACCCCACTTACAGTTTTCCGTTTAACACTTAACACATTGTTTTGCAAGACAAACAAACAGACTTTAGAACCCATGTTTTTCTACCTGGGGAAGGCTGAACTAACAAAAATAAGCAGATAAAACATTATGATAAATAAGTAAATGGCAACCAACAAAAATAACCAATAAAGAACAAGAATTAAGAAGGAGGCTATAAATATAGAAATAATTAGAATGCAGATTTTTAATTATTTAGGAACCTTGAAAACTATGCTTTTTTTTTTCCTTCACTTTTACATCTACGAGAAATATTGTCGTTTGACAATGTATAGAGAGCATCTACGTTCTACAGTATATTCTACTGGGTAACTTTGAGATACTGATTCAAAAGCATCAGAAGACATCATTTCTTGCCCTAAAAGAAATTATTAAAATATATAAAAATAACATTAAAACAACTGGTATAGGCTTTTATGCAGCCAAAAATATATATCACTGTAGTCTATGGCGAATTTATAAAAGCCAACAGGGTATTCAAAAGGGACAAAATATAGTACTGGGTTAGAAAATAAGACATTCAAAAAACGTATTAAGCTTAGTTATTAATAAGCTCTCACTTTCTAAATTCTTTAAAATTCACAATATATTAATTCTCCTACTTGACATTTTCCAATGCTACTTCTGAAAATTCTTTTAAAATTAAATTTATTAAAAATACTATTGAGAAGGATAATACTCATATGTACATTTATGAAAACAATGCTTTTATTTTAATGTAGCATCACCTAAGATTAATTATTAAATTTTCTTCAAATAACTGATTACTTTGCAACAAATTAAAAGTATTAGAAGTTTGAAGGAAGGACAGACAGATATGTATGTTTAACATCTAAACACATTTAAAATATCACATTAAAAATCAGAAAAATTAATCTGAAACAACTATATTATACTAAATACTACTCAAAAGCTGGCTATGAAAAGAGACACATATTCAGATCACAGAGAAAATATTCAAAATAACTACTCCATGGTGATTTCTTATGTTAAACTTCTGGTTTTCTGAATGTATAAAATTGTAATTTTTATTTTATAATTATAAAACTATAAGATTATAAAATTCCATGATAAAATACAACAAAGATTTATACTATGAAGATGAAATGTCCCTAAAAGAAAATGTGATAAGTTTACACCGTTTCCTTTGTTATTTTTTCCTCTACCTTACTCACTGCACATTTAAATAGAAAGAAAGAAGATCAATTTGAATGCATTTACCTCACCAAACGGAGTGTAAAACTGCACAATGTTCACATCTTTGTCCTGCATGGCTGCCTTCTGGAAGCCTGCCACAGCTAACACGCTGCCCATGTGGTTCCGCTGGATGCCTACTACGTACATGCCAGTGTCAATCAAAACGGGATCTAGTCAGAAAGAGAAAAATGAGGTCACTGTGGGAAAATACGTAGCCTAGAGAACTTTATAATCTTAAGAACAACTTTTAAACATTTTTAAAACTTTCCACATTTTTAAAAAAACAGGGCTGGGTACAACGGCTCACGCCTATAATCCCAACACTTTAGGAGGCTGAGGCGGGCGGATCACTTGAGTCCAGGAGTTCAAGATCGGCCTGGGCAACATGGTGAAACCCTGTCTCTACGAAAAATACAAAAATTAGCTGGAGGAGTTGGTGCACACCTGTGGTCCCAGCTCCTCAGGAGGCTGAGACCTTGAGCCTGGGAGGCCAAGGCTGCAGTGAGCCAAGAACGCACCACTGCACTCCAGCCTCGGCAACAGAGCAAGACCCTGTCGCAAAAAAAAAAAAGTTAAAAATTAGAAATTGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATAGAGACTATCCTGGCTAACAGGGTGAAACCCCGTCTCTACGAAAAATATAAAAAATTAGCCAGGCATAGTGGCACGCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAATTCGCTTGAACCCGGGAGGCAGAAGTTGCCGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAGAAAAAAAAAAAAATAGAAATTAAAAAAATTTTTTAAACAGAAAAATTCCTTACTTTGGTCATTCTCATGTCTCATTATTTGGCATCTTCCATTATCAAAGCAAACAGCAAGGCAAGGGCAATCAGGCTCCACGTAGCCTTCTGTGCCATGGTACCAATGAATTCCAGCAATGCTGATAGCTCCAGTGACATTCACCAAACAACTCAGTTTCATTTTTATCTAAATAAAATTGGTTAGGTTTAATATTTTACATTTTAAAACACAGCAGTATAGAGACAATACTCAATAGAGTATTGTAGAAAGAACACTGAAAAATACAGTCTAAAAATCAGGTGGCAAATTAAAGCTTAATCACTTACTGGTATACAGGCCATGGACAAATCACCTAAATGTCCATTTTCCCCACATGTAAAAAATGAGGATTAAAAAACACTGAGTTTTTATGAGACTCAAACAACAAGTATATAAAAGTACTTTGAAAACAGCAAAATGACATAAAAGTTCATTATTTTACTTCCACCAGTGAGTGGATTTACTTAATGTCCTAACCCTTGCTAAAAAACAAAACTGCCCCACCAGTAATCATACATCTATGATAGCTAAACCTTGCAAAGCCAGAATTTTTCTCCAGATTATGCTGCCTGATCCTATTCTATTTTACCTTCTTTCCAGGGATTGATTTTTCTCACTTACCATTTAAGTCTGTCATTCTTTTTACAAACAACCATTGGTAGCTTGCTACAAAAATACCCTGTGGTATCTACATGTAAACTTTGGCTTCAGACACCAGAAGACACCTATAAAACTTAAACTGCACATCGCCCTACTCATTATCTCTCTGCTTAAATGCACTGACACCTCGTCCTTTCTACCTACCAAAAAAAATTGGAACTAAAAGCTACACTCGAACTTGTTGCACTAATTTGCCTTGAGAAAACCAAAATTTTATTTAATTAAAACAAAATTTAGACGATTGGGAAAAAGAAAAAAAATCTGAATTGAAGACTTTAATTACACAAACCGCCATAAAAAATAAATGTATATACAAACATGAATGATATGTACGATAATCATATAAAATTGTATAAACAAGACTGATGCATACACTTACTTACCATAAAATTTCCTTGATTATCGTAAATGTGTATTTCCCCATTTGCCATTCCAAAAAGTAAGACTTTACTGTCCGCAGACCATGTTACATGGGATAGCTGTATACCCTTCAGGTCTTTTCCCCAAATACGATTGCCTAAAACAAAACATTATTAAAAGTTGTTCAAGGTCATGATCCTCCAAC
Task1_train_3130
Gene WDR35 (WD repeat domain 35) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; not provided
GGCAACCAACAAAAATAACCAATAAAGAACAAGAATTAAGAAGGAGGCTATAAATATAGAAATAATTAGAATGCAGATTTTTAATTATTTAGGAACCTTGAAAACTATGCTTTTTTTTTTCCTTCACTTTTACATCTACGAGAAATATTGTCGTTTGACAATGTATAGAGAGCATCTACGTTCTACAGTATATTCTACTGGGTAACTTTGAGATACTGATTCAAAAGCATCAGAAGACATCATTTCTTGCCCTAAAAGAAATTATTAAAATATATAAAAATAACATTAAAACAACTGGTATAGGCTTTTATGCAGCCAAAAATATATATCACTGTAGTCTATGGCGAATTTATAAAAGCCAACAGGGTATTCAAAAGGGACAAAATATAGTACTGGGTTAGAAAATAAGACATTCAAAAAACGTATTAAGCTTAGTTATTAATAAGCTCTCACTTTCTAAATTCTTTAAAATTCACAATATATTAATTCTCCTACTTGACATTTTCCAATGCTACTTCTGAAAATTCTTTTAAAATTAAATTTATTAAAAATACTATTGAGAAGGATAATACTCATATGTACATTTATGAAAACAATGCTTTTATTTTAATGTAGCATCACCTAAGATTAATTATTAAATTTTCTTCAAATAACTGATTACTTTGCAACAAATTAAAAGTATTAGAAGTTTGAAGGAAGGACAGACAGATATGTATGTTTAACATCTAAACACATTTAAAATATCACATTAAAAATCAGAAAAATTAATCTGAAACAACTATATTATACTAAATACTACTCAAAAGCTGGCTATGAAAAGAGACACATATTCAGATCACAGAGAAAATATTCAAAATAACTACTCCATGGTGATTTCTTATGTTAAACTTCTGGTTTTCTGAATGTATAAAATTGTAATTTTTATTTTATAATTATAAAACTATAAGATTATAAAATTCCATGATAAAATACAACAAAGATTTATACTATGAAGATGAAATGTCCCTAAAAGAAAATGTGATAAGTTTACACCGTTTCCTTTGTTATTTTTTCCTCTACCTTACTCACTGCACATTTAAATAGAAAGAAAGAAGATCAATTTGAATGCATTTACCTCACCAAACGGAGTGTAAAACTGCACAATGTTCACATCTTTGTCCTGCATGGCTGCCTTCTGGAAGCCTGCCACAGCTAACACGCTGCCCATGTGGTTCCACTGGATGCCTACTACGTACATGCCAGTGTCAATCAAAACGGGATCTAGTCAGAAAGAGAAAAATGAGGTCACTGTGGGAAAATACGTAGCCTAGAGAACTTTATAATCTTAAGAACAACTTTTAAACATTTTTAAAACTTTCCACATTTTTAAAAAAACAGGGCTGGGTACAACGGCTCACGCCTATAATCCCAACACTTTAGGAGGCTGAGGCGGGCGGATCACTTGAGTCCAGGAGTTCAAGATCGGCCTGGGCAACATGGTGAAACCCTGTCTCTACGAAAAATACAAAAATTAGCTGGAGGAGTTGGTGCACACCTGTGGTCCCAGCTCCTCAGGAGGCTGAGACCTTGAGCCTGGGAGGCCAAGGCTGCAGTGAGCCAAGAACGCACCACTGCACTCCAGCCTCGGCAACAGAGCAAGACCCTGTCGCAAAAAAAAAAAAGTTAAAAATTAGAAATTGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATAGAGACTATCCTGGCTAACAGGGTGAAACCCCGTCTCTACGAAAAATATAAAAAATTAGCCAGGCATAGTGGCACGCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAATTCGCTTGAACCCGGGAGGCAGAAGTTGCCGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAGAAAAAAAAAAAAATAGAAATTAAAAAAATTTTTTAAACAGAAAAATTCCTTACTTTGGTCATTCTCATGTCTCATTATTTGGCATCTTCCATTATCAAAGCAAACAGCAAGGCAAGGGCAATCAGGCTCCACGTAGCCTTCTGTGCCATGGTACCAATGAATTCCAGCAATGCTGATAGCTCCAGTGACATTCACCAAACAACTCAGTTTCATTTTTATCTAAATAAAATTGGTTAGGTTTAATATTTTACATTTTAAAACACAGCAGTATAGAGACAATACTCAATAGAGTATTGTAGAAAGAACACTGAAAAATACAGTCTAAAAATCAGGTGGCAAATTAAAGCTTAATCACTTACTGGTATACAGGCCATGGACAAATCACCTAAATGTCCATTTTCCCCACATGTAAAAAATGAGGATTAAAAAACACTGAGTTTTTATGAGACTCAAACAACAAGTATATAAAAGTACTTTGAAAACAGCAAAATGACATAAAAGTTCATTATTTTACTTCCACCAGTGAGTGGATTTACTTAATGTCCTAACCCTTGCTAAAAAACAAAACTGCCCCACCAGTAATCATACATCTATGATAGCTAAACCTTGCAAAGCCAGAATTTTTCTCCAGATTATGCTGCCTGATCCTATTCTATTTTACCTTCTTTCCAGGGATTGATTTTTCTCACTTACCATTTAAGTCTGTCATTCTTTTTACAAACAACCATTGGTAGCTTGCTACAAAAATACCCTGTGGTATCTACATGTAAACTTTGGCTTCAGACACCAGAAGACACCTATAAAACTTAAACTGCACATCGCCCTACTCATTATCTCTCTGCTTAAATGCACTGACACCTCGTCCTTTCTACCTACCAAAAAAAATTGGAACTAAAAGCTACACTCGAACTTGTTGCACTAATTTGCCTTGAGAAAACCAAAATTTTATTTAATTAAAACAAAATTTAGACGATTGGGAAAAAGAAAAAAAATCTGAATTGAAGACTTTAATTACACAAACCGCCATAAAAAATAAATGTATATACAAACATGAATGATATGTACGATAATCATATAAAATTGTATAAACAAGACTGATGCATACACTTACTTACCATAAAATTTCCTTGATTATCGTAAATGTGTATTTCCCCATTTGCCATTCCAAAAAGTAAGACTTTACTGTCCGCAGACCATGTTACATGGGATAGCTGTATACCCTTCAGGTCTTTTCCCCAAATACGATTGCCTAAAACAAAACATTATTAAAAGTTGTTCAAGGTCATGATCCTCCAACAACGGCTTTCGAAATCTTTGTTTTTCTAAAGATCTCACAAATTCTTCACAGCATTCATGCATTCATTCAATTTATTTGGCCAATAAATATTTACTGAGCACCTATATGTGCCTGAAAAGACATCTGAAATAGCAGCTGTTTCAACCTTTCTCCCCTTTCTTCTAAACTCTGATGCTGGATCTCACTCCCAATTAGCAGTTGAGCCCATCTTCTATTTTGGAAAGAAAATAAAAGCACCCAAAAAACAAATTCCTCATTCCCATCTTCAACAATTCAGAACATAACTGAGTCCATGCTTACACTTTCTGCGTTGCCCACTAATACAAAAGAAGAGGTATTTCCCCAGTCAGTCCCCTATCCAAGGCTAATTCCTCTATGTATTCTCTGATCTAATCCCTTCCTACCTTTGCAAAGATCTCCCTTTATCGACTACTCTCATTTTCTCTTTCTCATTAAACTCTTCACTCCAGGGCCTTTCTTATGTGGATTTAAACACATGCAGATCTATTTCTCTTTGAAACCATCACCCTAAATAAAATAAACACTTTTATTAACCCCAAGTTCCCCCTCTAACTACTATTTCTACCATTCCTTTCCCAACCAAACTTCATGAAAGAGTTCTTCACACCTATAGTCTCCACTTCAACTGCCACTCAACCCTTAACCCCTCCCAATCTGGCTTCTGCCCCACAACTCCATTGAAACTGCCTACAACATACACTATTTGGGTTATGGTTATATACTAATAGTCCAGACCTCACCAATATTCAATATATCCATATAACAAACCTGCACTTGTACCCTCTAAATCTATAAAAATAATAAATAAAAAA
GGCAACCAACAAAAATAACCAATAAAGAACAAGAATTAAGAAGGAGGCTATAAATATAGAAATAATTAGAATGCAGATTTTTAATTATTTAGGAACCTTGAAAACTATGCTTTTTTTTTTCCTTCACTTTTACATCTACGAGAAATATTGTCGTTTGACAATGTATAGAGAGCATCTACGTTCTACAGTATATTCTACTGGGTAACTTTGAGATACTGATTCAAAAGCATCAGAAGACATCATTTCTTGCCCTAAAAGAAATTATTAAAATATATAAAAATAACATTAAAACAACTGGTATAGGCTTTTATGCAGCCAAAAATATATATCACTGTAGTCTATGGCGAATTTATAAAAGCCAACAGGGTATTCAAAAGGGACAAAATATAGTACTGGGTTAGAAAATAAGACATTCAAAAAACGTATTAAGCTTAGTTATTAATAAGCTCTCACTTTCTAAATTCTTTAAAATTCACAATATATTAATTCTCCTACTTGACATTTTCCAATGCTACTTCTGAAAATTCTTTTAAAATTAAATTTATTAAAAATACTATTGAGAAGGATAATACTCATATGTACATTTATGAAAACAATGCTTTTATTTTAATGTAGCATCACCTAAGATTAATTATTAAATTTTCTTCAAATAACTGATTACTTTGCAACAAATTAAAAGTATTAGAAGTTTGAAGGAAGGACAGACAGATATGTATGTTTAACATCTAAACACATTTAAAATATCACATTAAAAATCAGAAAAATTAATCTGAAACAACTATATTATACTAAATACTACTCAAAAGCTGGCTATGAAAAGAGACACATATTCAGATCACAGAGAAAATATTCAAAATAACTACTCCATGGTGATTTCTTATGTTAAACTTCTGGTTTTCTGAATGTATAAAATTGTAATTTTTATTTTATAATTATAAAACTATAAGATTATAAAATTCCATGATAAAATACAACAAAGATTTATACTATGAAGATGAAATGTCCCTAAAAGAAAATGTGATAAGTTTACACCGTTTCCTTTGTTATTTTTTCCTCTACCTTACTCACTGCACATTTAAATAGAAAGAAAGAAGATCAATTTGAATGCATTTACCTCACCAAACGGAGTGTAAAACTGCACAATGTTCACATCTTTGTCCTGCATGGCTGCCTTCTGGAAGCCTGCCACAGCTAACACGCTGCCCATGTGGTTCCACTGGATGCCTACTACGTACATGCCAGTGTCAATCAAAACGGGATCTAGTCAGAAAGAGAAAAATGAGGTCACTGTGGGAAAATACGTAGCCTAGAGAACTTTATAATCTTAAGAACAACTTTTAAACATTTTTAAAACTTTCCACATTTTTAAAAAAACAGGGCTGGGTACAACGGCTCACGCCTATAATCCCAACACTTTAGGAGGCTGAGGCGGGCGGATCACTTGAGTCCAGGAGTTCAAGATCGGCCTGGGCAACATGGTGAAACCCTGTCTCTACGAAAAATACAAAAATTAGCTGGAGGAGTTGGTGCACACCTGTGGTCCCAGCTCCTCAGGAGGCTGAGACCTTGAGCCTGGGAGGCCAAGGCTGCAGTGAGCCAAGAACGCACCACTGCACTCCAGCCTCGGCAACAGAGCAAGACCCTGTCGCAAAAAAAAAAAAGTTAAAAATTAGAAATTGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATAGAGACTATCCTGGCTAACAGGGTGAAACCCCGTCTCTACGAAAAATATAAAAAATTAGCCAGGCATAGTGGCACGCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAATTCGCTTGAACCCGGGAGGCAGAAGTTGCCGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAGAAAAAAAAAAAAATAGAAATTAAAAAAATTTTTTAAACAGAAAAATTCCTTACTTTGGTCATTCTCATGTCTCATTATTTGGTATCTTCCATTATCAAAGCAAACAGCAAGGCAAGGGCAATCAGGCTCCACGTAGCCTTCTGTGCCATGGTACCAATGAATTCCAGCAATGCTGATAGCTCCAGTGACATTCACCAAACAACTCAGTTTCATTTTTATCTAAATAAAATTGGTTAGGTTTAATATTTTACATTTTAAAACACAGCAGTATAGAGACAATACTCAATAGAGTATTGTAGAAAGAACACTGAAAAATACAGTCTAAAAATCAGGTGGCAAATTAAAGCTTAATCACTTACTGGTATACAGGCCATGGACAAATCACCTAAATGTCCATTTTCCCCACATGTAAAAAATGAGGATTAAAAAACACTGAGTTTTTATGAGACTCAAACAACAAGTATATAAAAGTACTTTGAAAACAGCAAAATGACATAAAAGTTCATTATTTTACTTCCACCAGTGAGTGGATTTACTTAATGTCCTAACCCTTGCTAAAAAACAAAACTGCCCCACCAGTAATCATACATCTATGATAGCTAAACCTTGCAAAGCCAGAATTTTTCTCCAGATTATGCTGCCTGATCCTATTCTATTTTACCTTCTTTCCAGGGATTGATTTTTCTCACTTACCATTTAAGTCTGTCATTCTTTTTACAAACAACCATTGGTAGCTTGCTACAAAAATACCCTGTGGTATCTACATGTAAACTTTGGCTTCAGACACCAGAAGACACCTATAAAACTTAAACTGCACATCGCCCTACTCATTATCTCTCTGCTTAAATGCACTGACACCTCGTCCTTTCTACCTACCAAAAAAAATTGGAACTAAAAGCTACACTCGAACTTGTTGCACTAATTTGCCTTGAGAAAACCAAAATTTTATTTAATTAAAACAAAATTTAGACGATTGGGAAAAAGAAAAAAAATCTGAATTGAAGACTTTAATTACACAAACCGCCATAAAAAATAAATGTATATACAAACATGAATGATATGTACGATAATCATATAAAATTGTATAAACAAGACTGATGCATACACTTACTTACCATAAAATTTCCTTGATTATCGTAAATGTGTATTTCCCCATTTGCCATTCCAAAAAGTAAGACTTTACTGTCCGCAGACCATGTTACATGGGATAGCTGTATACCCTTCAGGTCTTTTCCCCAAATACGATTGCCTAAAACAAAACATTATTAAAAGTTGTTCAAGGTCATGATCCTCCAACAACGGCTTTCGAAATCTTTGTTTTTCTAAAGATCTCACAAATTCTTCACAGCATTCATGCATTCATTCAATTTATTTGGCCAATAAATATTTACTGAGCACCTATATGTGCCTGAAAAGACATCTGAAATAGCAGCTGTTTCAACCTTTCTCCCCTTTCTTCTAAACTCTGATGCTGGATCTCACTCCCAATTAGCAGTTGAGCCCATCTTCTATTTTGGAAAGAAAATAAAAGCACCCAAAAAACAAATTCCTCATTCCCATCTTCAACAATTCAGAACATAACTGAGTCCATGCTTACACTTTCTGCGTTGCCCACTAATACAAAAGAAGAGGTATTTCCCCAGTCAGTCCCCTATCCAAGGCTAATTCCTCTATGTATTCTCTGATCTAATCCCTTCCTACCTTTGCAAAGATCTCCCTTTATCGACTACTCTCATTTTCTCTTTCTCATTAAACTCTTCACTCCAGGGCCTTTCTTATGTGGATTTAAACACATGCAGATCTATTTCTCTTTGAAACCATCACCCTAAATAAAATAAACACTTTTATTAACCCCAAGTTCCCCCTCTAACTACTATTTCTACCATTCCTTTCCCAACCAAACTTCATGAAAGAGTTCTTCACACCTATAGTCTCCACTTCAACTGCCACTCAACCCTTAACCCCTCCCAATCTGGCTTCTGCCCCACAACTCCATTGAAACTGCCTACAACATACACTATTTGGGTTATGGTTATATACTAATAGTCCAGACCTCACCAATATTCAATATATCCATATAACAAACCTGCACTTGTACCCTCTAAATCTATAAAAATAATAAATAAAAAA
Task1_train_3131
This genomic variant is located on Chromosome 2, within the WDR35 (WD repeat domain 35) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Cranioectodermal dysplasia 2
GTAGAAGCTATTCTTCTGCTAAGAGTCTAAGTTCATTTTGGAGATGGCCAACAGTCACCTAATTCACTTTCTTAATAACAGGGTTAAAGTTTTAAAAAAGTGAAAAGTAGGCAGCAATAAATCCAGAAATATTATCACTGTGCAGTCAGGATGAACTCCTGTTGTTAGTAAAAGGGGTCTATTTTGGAGATGTTATTTACCCATCCAAATACTGTGATCCAGATGCCAACTTGTGAAAAATTAAATAATCTCTCCTAGTAAAGTATACCTTTATATAACATCCACACAATGATAAGCCCGTTTTCATCACTGGTAGTCAACTTCTGATACTGCTCATTCCATGTTACAACTTGAACAGAACCTAGAACATTATAAAACAATTTAGAAACTTAAAGGTTACAATTAATTTCAAATTCACATTTTTATATAAACACCAAGATCATGTTAAAATCAATATGGTTCCTGTACAGCTAACTAGTCTTTAATATTCCTCAAAACCTATTCATAAGATGCAGTTATTGATATCACTAATTTTCTACAACAATGCATAATACTATTTTTCATATCTATCCCTATTTCATCCCAGTAAAGACACCAATCATGGCTAGCTACCAGAACTACCATATACCTGATGACAGAAACAAATACAAGCATGGTTTACTCAATTGGCCTGACTCCCAAAAATAATGATGTTCAAAGGACACCATAACAAGTACTTGTTTAGGGGACTTTTATCATTTTTGGTAGATATGTCCTATAATCTCTCTTCTGCCCACCTCTCACTCGTTTTCCATTCTATTAGTAAAACACTCTTGAGCATATCTTAAACCTCTAGGGTACGTGAATAATTGATGACTTTTAATTTTTTAATCCCTAAATACTTTAGTGTACATTTCCTAAAAATAAAGACATTCTCTTCCATAATCATATTACAAATTAGGAAGTTTAACACTGATATACTATTATCTAACTCACAGTCCATATACAAATTTTACCAATTGTCCAAATAATGTCCTTTATAGACACTTGTTCTTCTCATTCCAAGATCCAATCTAGGATTATACAGTGCATTTAGTTGTTATACATCTTCAGTCTTTAGTCTTTTTTTTTCTTGAGACAGGATCTTGCACTGTCACCAAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCATGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTACTGGGGACTACGGGCACACAGCACCACGCCTGGTTAATTTTTTTTATTTTTTGTAGAAACAGGGTCTCATTATGTTGCCCAGGGTGGTTCCAAAATCCCAGCCTCATGCAGTCTTCCCACCTTGGCCTCCCAAAGTGCTTGAACTATAGGTGTTAGCCACTACACCCAGTCTCTTCAGTCTCCTTTAATCTGGAATCATAGGACAGATTCTAAAAAGGATTATATATACAACATCCATAGACAGGAGTATTTTCAATATATTAAAAACAGCTATTTTCTTCTAGATTTATTTAAGATGTTGTTTAATCATGTAAAAGTTGAATGACTCTAAGTTGTATTACTTATGTCTCAACAGAAATGATTACAAACAGCTCCCAACTTACAATGGTACTACTTAAATGACTTTTCGGTGATGGGAATGCAATGCACATTCAGTAGAAACCGTACTTCGAGTGCCCATACAACCATTCTGTTTTTCACTTTTAGTACAGAAATCAATAAGTTACATAAGATATTCAACATTTTAGTATAAAATAGGCTTTATGTCAGATGATTGTGCCCAACTGTAGGCTAGTGTTTTCTGGGCATATTTAAGGTAAGCTAGGCAGAGCTACGATGTTCAGTAGGTTAGGTGTATTAAATGCATTTTCAACTTACAATGGGTTTATTGGAACATATCCCCATCGTAACTCAAAGAGCATCTGTACTGTAAATATTACCATTATTTAAAATGTTGACATTTCTGCATTAAGTAGAAACTTTCTAAATGCCTAAATACCACTCAAACATGACTTAAAAGAAATTGAATGACTCACCACTATGACCTTCAAGAGTCTGATTCATAGAAAGGTTACTGGGGGCTGCAAGGCCCCTCAATTTTGCATCATCTAAAACAAAACAAAACAAACTACTATGATAAATATGTAAAAGTGACATATTATAAGATTTTGACTCTTTTTGTATTCCTGGGCAGTATTAATCATTTTTCTAAGTATGCCCCATTCTGATATATTTTTCTCATGGTATAAACATGAACAATAACACATACCCCTTGCAAAGATATTCTGGTAAAATAAAGCAAAATATATAAATGAAGATTGTTTACTCATACATTACATATATTAATAATCATCACTGCTTTTTATTCCTTTCCAAAAGACCACAAATAGAAATATTTATGGCCTACAGATTGAAAACTCTACAGCTTACAAGGGATCAAAAGAGCATAGACTTTGAAAATGGGTTTTTACTAGATTACACAGAATCTTATATTCACTCATTTATTCATTCATTTAACAAATATTTATGAAATGTGTACACTGTGCTATGCATTACAAAAGGTTCTACATATAAAATGGTGAACAAAACAGTCATTTCCCCTTTCTTCTCAGAGCTTTCAGTCTAAGGGACCAATATTAAATATATACTCACATACACATAAATGTAACTATAAACTGGGAATGTGAAAGCATAATAAGAAAGAGTAGCAGAAGTGACTTAATTTAGATTGATGGGGAACCAGGGAAGGCTATCAGAAGAACTGATATTTAAGCTGAGACTGAGAGGTAAACTGGAGATAGCCAGGAAAGGTAGAGAAAGAAGGGGAGTATTCCAGGCTAGGACACAGCAACATAAAGGCTCTGAGGTAGACAACTAGAGCCCTTGACAAACTCTAAGAAGGCCTATGTGGATGAACAGGGGAGAAAATTGCATCAAACAAGGCTGGAGTGATAGGCACAAGAAAAACTATGAAGTATTTGTAGAAAATGATAAGAATTTTAGATTTTATCCAAAGTGCAATGAAAACCTCTAAAGACGTCTTAAAAATTTACTAACCATCCTACAGAGAATATTAAAATGTCATCTCAATAAATTAATCTTGGCTTAGAAATCTGTTACACATAAAACATAGCATTTAAAATTTTCATTTAAAATACAAATGTTATGAAGATCTTAAGAATTTGTGAGAATGGGAATTATACCAATGCTAAAGAAAATTCTACTTTCAGATAACAAGTATCTTAAAATATTATGAAAAATATCCTTTATTCTGAAAACATTGTCAGGAAAAGATACCTAATTTCCTCTAAATCACTAGTTCTAATTACCCAGTTGTTTTGGTAACACAAGAGTACACATGTACAGTTTAACAATGCAATCATCTGTCAATTAAGATAGAATAAATGTTGCTGACACACACATTAGGCTGAACATAATTTTTTTTAACACAGGGTTCTTTCATTCATTTAATCTTTTAAAAATTGTACAACATACTTAAACTTTATTATAATATTCTAAAATATTTGGTGGAAACATTTTTCTTAACTTCTAGCACTGAAAAATCCATTCTAATGCATATATATATATATATATATATATATATATATATATATACATATATACACACACCCACATATTCTGATGTCACTATAACCTAAGTGAAATGGGTCATATGAGATTTAGATTGACCACCCATGTTTGCCCTCTGTTAGACCATAAGGTAGCATACTCTTGACAAAACACATGCTGACAGTTAAGAACAGGCTTTGAAATTCAGCTTGATATATTGAACAAATATCATCCACATCTGAAAACGTCTCTTGCTGGAAGCAACTCCGTAACTTGATCATGTAAAAAATATTCATAAAACCCACCTGAAAGTTCTCAGATGTCCATAAAAAGGCCAAAAGTTTTAAATGATGTAGAGTAAAGCCAGCGATAATATCCCAAGATTCCATTCAGTTACATTACTAGACTCCAGATAGCCAATAAGGTAATGAAACCAAACTGGTATGTGAACAAAAATCTGGTAATACTGACATAAATCTTCTAAAAGCACATAACAGTAATCCTTGGATTTAAAAGGCATAA
GTAGAAGCTATTCTTCTGCTAAGAGTCTAAGTTCATTTTGGAGATGGCCAACAGTCACCTAATTCACTTTCTTAATAACAGGGTTAAAGTTTTAAAAAAGTGAAAAGTAGGCAGCAATAAATCCAGAAATATTATCACTGTGCAGTCAGGATGAACTCCTGTTGTTAGTAAAAGGGGTCTATTTTGGAGATGTTATTTACCCATCCAAATACTGTGATCCAGATGCCAACTTGTGAAAAATTAAATAATCTCTCCTAGTAAAGTATACCTTTATATAACATCCACACAATGATAAGCCCGTTTTCATCACTGGTAGTCAACTTCTGATACTGCTCATTCCATGTTACAACTTGAACAGAACCTAGAACATTATAAAACAATTTAGAAACTTAAAGGTTACAATTAATTTCAAATTCACATTTTTATATAAACACCAAGATCATGTTAAAATCAATATGGTTCCTGTACAGCTAACTAGTCTTTAATATTCCTCAAAACCTATTCATAAGATGCAGTTATTGATATCACTAATTTTCTACAACAATGCATAATACTATTTTTCATATCTATCCCTATTTCATCCCAGTAAAGACACCAATCATGGCTAGCTACCAGAACTACCATATACCTGATGACAGAAACAAATACAAGCATGGTTTACTCAATTGGCCTGACTCCCAAAAATAATGATGTTCAAAGGACACCATAACAAGTACTTGTTTAGGGGACTTTTATCATTTTTGGTAGATATGTCCTATAATCTCTCTTCTGCCCACCTCTCACTCGTTTTCCATTCTATTAGTAAAACACTCTTGAGCATATCTTAAACCTCTAGGGTACGTGAATAATTGATGACTTTTAATTTTTTAATCCCTAAATACTTTAGTGTACATTTCCTAAAAATAAAGACATTCTCTTCCATAATCATATTACAAATTAGGAAGTTTAACACTGATATACTATTATCTAACTCACAGTCCATATACAAATTTTACCAATTGTCCAAATAATGTCCTTTATAGACACTTGTTCTTCTCATTCCAAGATCCAATCTAGGATTATACAGTGCATTTAGTTGTTATACATCTTCAGTCTTTAGTCTTTTTTTTTCTTGAGACAGGATCTTGCACTGTCACCAAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCATGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTACTGGGGACTACGGGCACACAGCACCACGCCTGGTTAATTTTTTTTATTTTTTGTAGAAACAGGGTCTCATTATGTTGCCCAGGGTGGTTCCAAAATCCCAGCCTCATGCAGTCTTCCCACCTTGGCCTCCCAAAGTGCTTGAACTATAGGTGTTAGCCACTACACCCAGTCTCTTCAGTCTCCTTTAATCTGGAATCATAGGACAGATTCTAAAAAGGATTATATATACAACATCCATAGACAGGAGTATTTTCAATATATTAAAAACAGCTATTTTCTTCTAGATTTATTTAAGATGTTGTTTAATCATGTAAAAGTTGAATGACTCTAAGTTGTATTACTTATGTCTCAACAGAAATGATTACAAACAGCTCCCAACTTACAATGGTACTACTTAAATGACTTTTCGGTGATGGGAATGCAATGCACATTCAGTAGAAACCGTACTTCGAGTGCCCATACAACCATTCTGTTTTTCACTTTTAGTACAGAAATCAATAAGTTACATAAGATATTCAACATTTTAGTATAAAATAGGCTTTATGTCAGATGATTGTGCCCAACTGTAGGCTAGTGTTTTCTGGGCATATTTAAGGTAAGCTAGGCAGAGCTACGATGTTCAGTAGGTTAGGTGTATTAAATGCATTTTCAACTTACAATGGGTTTATTGGAACATATCCCCATCGTAACTCAAAGAGCATCTGTACTGTAAATATTACCATTATTTAAAATGTTGACATTTCTGCATTAAGTAGAAACTTTCTAAATGCCTAAATACCACTCAAACATGACTTAAAAGAAATTGAATGACTCACCACTATGATCTTCAAGAGTCTGATTCATAGAAAGGTTACTGGGGGCTGCAAGGCCCCTCAATTTTGCATCATCTAAAACAAAACAAAACAAACTACTATGATAAATATGTAAAAGTGACATATTATAAGATTTTGACTCTTTTTGTATTCCTGGGCAGTATTAATCATTTTTCTAAGTATGCCCCATTCTGATATATTTTTCTCATGGTATAAACATGAACAATAACACATACCCCTTGCAAAGATATTCTGGTAAAATAAAGCAAAATATATAAATGAAGATTGTTTACTCATACATTACATATATTAATAATCATCACTGCTTTTTATTCCTTTCCAAAAGACCACAAATAGAAATATTTATGGCCTACAGATTGAAAACTCTACAGCTTACAAGGGATCAAAAGAGCATAGACTTTGAAAATGGGTTTTTACTAGATTACACAGAATCTTATATTCACTCATTTATTCATTCATTTAACAAATATTTATGAAATGTGTACACTGTGCTATGCATTACAAAAGGTTCTACATATAAAATGGTGAACAAAACAGTCATTTCCCCTTTCTTCTCAGAGCTTTCAGTCTAAGGGACCAATATTAAATATATACTCACATACACATAAATGTAACTATAAACTGGGAATGTGAAAGCATAATAAGAAAGAGTAGCAGAAGTGACTTAATTTAGATTGATGGGGAACCAGGGAAGGCTATCAGAAGAACTGATATTTAAGCTGAGACTGAGAGGTAAACTGGAGATAGCCAGGAAAGGTAGAGAAAGAAGGGGAGTATTCCAGGCTAGGACACAGCAACATAAAGGCTCTGAGGTAGACAACTAGAGCCCTTGACAAACTCTAAGAAGGCCTATGTGGATGAACAGGGGAGAAAATTGCATCAAACAAGGCTGGAGTGATAGGCACAAGAAAAACTATGAAGTATTTGTAGAAAATGATAAGAATTTTAGATTTTATCCAAAGTGCAATGAAAACCTCTAAAGACGTCTTAAAAATTTACTAACCATCCTACAGAGAATATTAAAATGTCATCTCAATAAATTAATCTTGGCTTAGAAATCTGTTACACATAAAACATAGCATTTAAAATTTTCATTTAAAATACAAATGTTATGAAGATCTTAAGAATTTGTGAGAATGGGAATTATACCAATGCTAAAGAAAATTCTACTTTCAGATAACAAGTATCTTAAAATATTATGAAAAATATCCTTTATTCTGAAAACATTGTCAGGAAAAGATACCTAATTTCCTCTAAATCACTAGTTCTAATTACCCAGTTGTTTTGGTAACACAAGAGTACACATGTACAGTTTAACAATGCAATCATCTGTCAATTAAGATAGAATAAATGTTGCTGACACACACATTAGGCTGAACATAATTTTTTTTAACACAGGGTTCTTTCATTCATTTAATCTTTTAAAAATTGTACAACATACTTAAACTTTATTATAATATTCTAAAATATTTGGTGGAAACATTTTTCTTAACTTCTAGCACTGAAAAATCCATTCTAATGCATATATATATATATATATATATATATATATATATATATACATATATACACACACCCACATATTCTGATGTCACTATAACCTAAGTGAAATGGGTCATATGAGATTTAGATTGACCACCCATGTTTGCCCTCTGTTAGACCATAAGGTAGCATACTCTTGACAAAACACATGCTGACAGTTAAGAACAGGCTTTGAAATTCAGCTTGATATATTGAACAAATATCATCCACATCTGAAAACGTCTCTTGCTGGAAGCAACTCCGTAACTTGATCATGTAAAAAATATTCATAAAACCCACCTGAAAGTTCTCAGATGTCCATAAAAAGGCCAAAAGTTTTAAATGATGTAGAGTAAAGCCAGCGATAATATCCCAAGATTCCATTCAGTTACATTACTAGACTCCAGATAGCCAATAAGGTAATGAAACCAAACTGGTATGTGAACAAAAATCTGGTAATACTGACATAAATCTTCTAAAAGCACATAACAGTAATCCTTGGATTTAAAAGGCATAA
Task1_train_3132
This sequence variant lies in WDR35 (WD repeat domain 35) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
Pathogenic; WDR35-related disorder
GTAGAAGCTATTCTTCTGCTAAGAGTCTAAGTTCATTTTGGAGATGGCCAACAGTCACCTAATTCACTTTCTTAATAACAGGGTTAAAGTTTTAAAAAAGTGAAAAGTAGGCAGCAATAAATCCAGAAATATTATCACTGTGCAGTCAGGATGAACTCCTGTTGTTAGTAAAAGGGGTCTATTTTGGAGATGTTATTTACCCATCCAAATACTGTGATCCAGATGCCAACTTGTGAAAAATTAAATAATCTCTCCTAGTAAAGTATACCTTTATATAACATCCACACAATGATAAGCCCGTTTTCATCACTGGTAGTCAACTTCTGATACTGCTCATTCCATGTTACAACTTGAACAGAACCTAGAACATTATAAAACAATTTAGAAACTTAAAGGTTACAATTAATTTCAAATTCACATTTTTATATAAACACCAAGATCATGTTAAAATCAATATGGTTCCTGTACAGCTAACTAGTCTTTAATATTCCTCAAAACCTATTCATAAGATGCAGTTATTGATATCACTAATTTTCTACAACAATGCATAATACTATTTTTCATATCTATCCCTATTTCATCCCAGTAAAGACACCAATCATGGCTAGCTACCAGAACTACCATATACCTGATGACAGAAACAAATACAAGCATGGTTTACTCAATTGGCCTGACTCCCAAAAATAATGATGTTCAAAGGACACCATAACAAGTACTTGTTTAGGGGACTTTTATCATTTTTGGTAGATATGTCCTATAATCTCTCTTCTGCCCACCTCTCACTCGTTTTCCATTCTATTAGTAAAACACTCTTGAGCATATCTTAAACCTCTAGGGTACGTGAATAATTGATGACTTTTAATTTTTTAATCCCTAAATACTTTAGTGTACATTTCCTAAAAATAAAGACATTCTCTTCCATAATCATATTACAAATTAGGAAGTTTAACACTGATATACTATTATCTAACTCACAGTCCATATACAAATTTTACCAATTGTCCAAATAATGTCCTTTATAGACACTTGTTCTTCTCATTCCAAGATCCAATCTAGGATTATACAGTGCATTTAGTTGTTATACATCTTCAGTCTTTAGTCTTTTTTTTTCTTGAGACAGGATCTTGCACTGTCACCAAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCATGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTACTGGGGACTACGGGCACACAGCACCACGCCTGGTTAATTTTTTTTATTTTTTGTAGAAACAGGGTCTCATTATGTTGCCCAGGGTGGTTCCAAAATCCCAGCCTCATGCAGTCTTCCCACCTTGGCCTCCCAAAGTGCTTGAACTATAGGTGTTAGCCACTACACCCAGTCTCTTCAGTCTCCTTTAATCTGGAATCATAGGACAGATTCTAAAAAGGATTATATATACAACATCCATAGACAGGAGTATTTTCAATATATTAAAAACAGCTATTTTCTTCTAGATTTATTTAAGATGTTGTTTAATCATGTAAAAGTTGAATGACTCTAAGTTGTATTACTTATGTCTCAACAGAAATGATTACAAACAGCTCCCAACTTACAATGGTACTACTTAAATGACTTTTCGGTGATGGGAATGCAATGCACATTCAGTAGAAACCGTACTTCGAGTGCCCATACAACCATTCTGTTTTTCACTTTTAGTACAGAAATCAATAAGTTACATAAGATATTCAACATTTTAGTATAAAATAGGCTTTATGTCAGATGATTGTGCCCAACTGTAGGCTAGTGTTTTCTGGGCATATTTAAGGTAAGCTAGGCAGAGCTACGATGTTCAGTAGGTTAGGTGTATTAAATGCATTTTCAACTTACAATGGGTTTATTGGAACATATCCCCATCGTAACTCAAAGAGCATCTGTACTGTAAATATTACCATTATTTAAAATGTTGACATTTCTGCATTAAGTAGAAACTTTCTAAATGCCTAAATACCACTCAAACATGACTTAAAAGAAATTGAATGACTCACCACTATGACCTTCAAGAGTCTGATTCATAGAAAGGTTACTGGGGGCTGCAAGGCCCCTCAATTTTGCATCATCTAAAACAAAACAAAACAAACTACTATGATAAATATGTAAAAGTGACATATTATAAGATTTTGACTCTTTTTGTATTCCTGGGCAGTATTAATCATTTTTCTAAGTATGCCCCATTCTGATATATTTTTCTCATGGTATAAACATGAACAATAACACATACCCCTTGCAAAGATATTCTGGTAAAATAAAGCAAAATATATAAATGAAGATTGTTTACTCATACATTACATATATTAATAATCATCACTGCTTTTTATTCCTTTCCAAAAGACCACAAATAGAAATATTTATGGCCTACAGATTGAAAACTCTACAGCTTACAAGGGATCAAAAGAGCATAGACTTTGAAAATGGGTTTTTACTAGATTACACAGAATCTTATATTCACTCATTTATTCATTCATTTAACAAATATTTATGAAATGTGTACACTGTGCTATGCATTACAAAAGGTTCTACATATAAAATGGTGAACAAAACAGTCATTTCCCCTTTCTTCTCAGAGCTTTCAGTCTAAGGGACCAATATTAAATATATACTCACATACACATAAATGTAACTATAAACTGGGAATGTGAAAGCATAATAAGAAAGAGTAGCAGAAGTGACTTAATTTAGATTGATGGGGAACCAGGGAAGGCTATCAGAAGAACTGATATTTAAGCTGAGACTGAGAGGTAAACTGGAGATAGCCAGGAAAGGTAGAGAAAGAAGGGGAGTATTCCAGGCTAGGACACAGCAACATAAAGGCTCTGAGGTAGACAACTAGAGCCCTTGACAAACTCTAAGAAGGCCTATGTGGATGAACAGGGGAGAAAATTGCATCAAACAAGGCTGGAGTGATAGGCACAAGAAAAACTATGAAGTATTTGTAGAAAATGATAAGAATTTTAGATTTTATCCAAAGTGCAATGAAAACCTCTAAAGACGTCTTAAAAATTTACTAACCATCCTACAGAGAATATTAAAATGTCATCTCAATAAATTAATCTTGGCTTAGAAATCTGTTACACATAAAACATAGCATTTAAAATTTTCATTTAAAATACAAATGTTATGAAGATCTTAAGAATTTGTGAGAATGGGAATTATACCAATGCTAAAGAAAATTCTACTTTCAGATAACAAGTATCTTAAAATATTATGAAAAATATCCTTTATTCTGAAAACATTGTCAGGAAAAGATACCTAATTTCCTCTAAATCACTAGTTCTAATTACCCAGTTGTTTTGGTAACACAAGAGTACACATGTACAGTTTAACAATGCAATCATCTGTCAATTAAGATAGAATAAATGTTGCTGACACACACATTAGGCTGAACATAATTTTTTTTAACACAGGGTTCTTTCATTCATTTAATCTTTTAAAAATTGTACAACATACTTAAACTTTATTATAATATTCTAAAATATTTGGTGGAAACATTTTTCTTAACTTCTAGCACTGAAAAATCCATTCTAATGCATATATATATATATATATATATATATATATATATATATACATATATACACACACCCACATATTCTGATGTCACTATAACCTAAGTGAAATGGGTCATATGAGATTTAGATTGACCACCCATGTTTGCCCTCTGTTAGACCATAAGGTAGCATACTCTTGACAAAACACATGCTGACAGTTAAGAACAGGCTTTGAAATTCAGCTTGATATATTGAACAAATATCATCCACATCTGAAAACGTCTCTTGCTGGAAGCAACTCCGTAACTTGATCATGTAAAAAATATTCATAAAACCCACCTGAAAGTTCTCAGATGTCCATAAAAAGGCCAAAAGTTTTAAATGATGTAGAGTAAAGCCAGCGATAATATCCCAAGATTCCATTCAGTTACATTACTAGACTCCAGATAGCCAATAAGGTAATGAAACCAAACTGGTATGTGAACAAAAATCTGGTAATACTGACATAAATCTTCTAAAAGCACATAACAGTAATCCTTGGATTTAAAAGGCATAA
GTAGAAGCTATTCTTCTGCTAAGAGTCTAAGTTCATTTTGGAGATGGCCAACAGTCACCTAATTCACTTTCTTAATAACAGGGTTAAAGTTTTAAAAAAGTGAAAAGTAGGCAGCAATAAATCCAGAAATATTATCACTGTGCAGTCAGGATGAACTCCTGTTGTTAGTAAAAGGGGTCTATTTTGGAGATGTTATTTACCCATCCAAATACTGTGATCCAGATGCCAACTTGTGAAAAATTAAATAATCTCTCCTAGTAAAGTATACCTTTATATAACATCCACACAATGATAAGCCCGTTTTCATCACTGGTAGTCAACTTCTGATACTGCTCATTCCATGTTACAACTTGAACAGAACCTAGAACATTATAAAACAATTTAGAAACTTAAAGGTTACAATTAATTTCAAATTCACATTTTTATATAAACACCAAGATCATGTTAAAATCAATATGGTTCCTGTACAGCTAACTAGTCTTTAATATTCCTCAAAACCTATTCATAAGATGCAGTTATTGATATCACTAATTTTCTACAACAATGCATAATACTATTTTTCATATCTATCCCTATTTCATCCCAGTAAAGACACCAATCATGGCTAGCTACCAGAACTACCATATACCTGATGACAGAAACAAATACAAGCATGGTTTACTCAATTGGCCTGACTCCCAAAAATAATGATGTTCAAAGGACACCATAACAAGTACTTGTTTAGGGGACTTTTATCATTTTTGGTAGATATGTCCTATAATCTCTCTTCTGCCCACCTCTCACTCGTTTTCCATTCTATTAGTAAAACACTCTTGAGCATATCTTAAACCTCTAGGGTACGTGAATAATTGATGACTTTTAATTTTTTAATCCCTAAATACTTTAGTGTACATTTCCTAAAAATAAAGACATTCTCTTCCATAATCATATTACAAATTAGGAAGTTTAACACTGATATACTATTATCTAACTCACAGTCCATATACAAATTTTACCAATTGTCCAAATAATGTCCTTTATAGACACTTGTTCTTCTCATTCCAAGATCCAATCTAGGATTATACAGTGCATTTAGTTGTTATACATCTTCAGTCTTTAGTCTTTTTTTTTCTTGAGACAGGATCTTGCACTGTCACCAAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCATGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTACTGGGGACTACGGGCACACAGCACCACGCCTGGTTAATTTTTTTTATTTTTTGTAGAAACAGGGTCTCATTATGTTGCCCAGGGTGGTTCCAAAATCCCAGCCTCATGCAGTCTTCCCACCTTGGCCTCCCAAAGTGCTTGAACTATAGGTGTTAGCCACTACACCCAGTCTCTTCAGTCTCCTTTAATCTGGAATCATAGGACAGATTCTAAAAAGGATTATATATACAACATCCATAGACAGGAGTATTTTCAATATATTAAAAACAGCTATTTTCTTCTAGATTTATTTAAGATGTTGTTTAATCATGTAAAAGTTGAATGACTCTAAGTTGTATTACTTATGTCTCAACAGAAATGATTACAAACAGCTCCCAACTTACAATGGTACTACTTAAATGACTTTTCGGTGATGGGAATGCAATGCACATTCAGTAGAAACCGTACTTCGAGTGCCCATACAACCATTCTGTTTTTCACTTTTAGTACAGAAATCAATAAGTTACATAAGATATTCAACATTTTAGTATAAAATAGGCTTTATGTCAGATGATTGTGCCCAACTGTAGGCTAGTGTTTTCTGGGCATATTTAAGGTAAGCTAGGCAGAGCTACGATGTTCAGTAGGTTAGGTGTATTAAATGCATTTTCAACTTACAATGGGTTTATTGGAACATATCCCCATCGTAACTCAAAGAGCATCTGTACTGTAAATATTACCATTATTTAAAATGTTGACATTTCTGCATTAAGTAGAAACTTTCTAAATGCCTAAATACCACTCAAACATGACTTAAAAGAAATTGAATGACTCACCACTATGATCTTCAAGAGTCTGATTCATAGAAAGGTTACTGGGGGCTGCAAGGCCCCTCAATTTTGCATCATCTAAAACAAAACAAAACAAACTACTATGATAAATATGTAAAAGTGACATATTATAAGATTTTGACTCTTTTTGTATTCCTGGGCAGTATTAATCATTTTTCTAAGTATGCCCCATTCTGATATATTTTTCTCATGGTATAAACATGAACAATAACACATACCCCTTGCAAAGATATTCTGGTAAAATAAAGCAAAATATATAAATGAAGATTGTTTACTCATACATTACATATATTAATAATCATCACTGCTTTTTATTCCTTTCCAAAAGACCACAAATAGAAATATTTATGGCCTACAGATTGAAAACTCTACAGCTTACAAGGGATCAAAAGAGCATAGACTTTGAAAATGGGTTTTTACTAGATTACACAGAATCTTATATTCACTCATTTATTCATTCATTTAACAAATATTTATGAAATGTGTACACTGTGCTATGCATTACAAAAGGTTCTACATATAAAATGGTGAACAAAACAGTCATTTCCCCTTTCTTCTCAGAGCTTTCAGTCTAAGGGACCAATATTAAATATATACTCACATACACATAAATGTAACTATAAACTGGGAATGTGAAAGCATAATAAGAAAGAGTAGCAGAAGTGACTTAATTTAGATTGATGGGGAACCAGGGAAGGCTATCAGAAGAACTGATATTTAAGCTGAGACTGAGAGGTAAACTGGAGATAGCCAGGAAAGGTAGAGAAAGAAGGGGAGTATTCCAGGCTAGGACACAGCAACATAAAGGCTCTGAGGTAGACAACTAGAGCCCTTGACAAACTCTAAGAAGGCCTATGTGGATGAACAGGGGAGAAAATTGCATCAAACAAGGCTGGAGTGATAGGCACAAGAAAAACTATGAAGTATTTGTAGAAAATGATAAGAATTTTAGATTTTATCCAAAGTGCAATGAAAACCTCTAAAGACGTCTTAAAAATTTACTAACCATCCTACAGAGAATATTAAAATGTCATCTCAATAAATTAATCTTGGCTTAGAAATCTGTTACACATAAAACATAGCATTTAAAATTTTCATTTAAAATACAAATGTTATGAAGATCTTAAGAATTTGTGAGAATGGGAATTATACCAATGCTAAAGAAAATTCTACTTTCAGATAACAAGTATCTTAAAATATTATGAAAAATATCCTTTATTCTGAAAACATTGTCAGGAAAAGATACCTAATTTCCTCTAAATCACTAGTTCTAATTACCCAGTTGTTTTGGTAACACAAGAGTACACATGTACAGTTTAACAATGCAATCATCTGTCAATTAAGATAGAATAAATGTTGCTGACACACACATTAGGCTGAACATAATTTTTTTTAACACAGGGTTCTTTCATTCATTTAATCTTTTAAAAATTGTACAACATACTTAAACTTTATTATAATATTCTAAAATATTTGGTGGAAACATTTTTCTTAACTTCTAGCACTGAAAAATCCATTCTAATGCATATATATATATATATATATATATATATATATATATATACATATATACACACACCCACATATTCTGATGTCACTATAACCTAAGTGAAATGGGTCATATGAGATTTAGATTGACCACCCATGTTTGCCCTCTGTTAGACCATAAGGTAGCATACTCTTGACAAAACACATGCTGACAGTTAAGAACAGGCTTTGAAATTCAGCTTGATATATTGAACAAATATCATCCACATCTGAAAACGTCTCTTGCTGGAAGCAACTCCGTAACTTGATCATGTAAAAAATATTCATAAAACCCACCTGAAAGTTCTCAGATGTCCATAAAAAGGCCAAAAGTTTTAAATGATGTAGAGTAAAGCCAGCGATAATATCCCAAGATTCCATTCAGTTACATTACTAGACTCCAGATAGCCAATAAGGTAATGAAACCAAACTGGTATGTGAACAAAAATCTGGTAATACTGACATAAATCTTCTAAAAGCACATAACAGTAATCCTTGGATTTAAAAGGCATAA
Task1_train_3133
Given this variant in gene MATN3, WDR35-DT (matrilin 3| WDR35 divergent transcript) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Spondyloepimetaphyseal dysplasia, matrilin-3 type
AGATTTATGAAAAGGTTGCAAAAACAGTGCAAAAAATTCCTGTACTTCACCCTGTTTCCCCAAACAGTAATTTACATAACCATAGTATGATTATCAAACCAGAAATTAACATTGATATAATATGATTTACTAATCTACAGACTTTATTCAAATGTTGCCATTAATGTCCTTTTTCTGGTCCAGGATCCAATCCAGGATTCCACATTGCATTCAGTTTCACATCTCCGTCCTCTCCAACCTGGGACACTTCCTAAGTCTTTCTTTGTCTTTTATGACTTTCACGTTTCTGAGAAGTACTGGAAAACTATTTTGTGAACTGAGAGTGTCTCTCAGGTTTTTCTAATCTTTCCTCATAATCCTGAATTTTTAGCAAGAATACTACAGGTGTGCTGTTGTGTCCACAGTATTGAGCACAGCATGTCAGGTCATACATGATGTCACTATGTGTCATCACTGATGATGTTAACTTTGATCACTTAGTTAAGGTGATGTCTGCCAGTTTCTCCACTATAAAGTTACTGTCTTTCCCTTTGTAAGCAACAGGTAACTTGTGGGTTGTTATGTGATTTCAACCTACTGAATTGTCTGTAGCATTTGGGAAGGATTGTTCAGGCTGGCTACAGAGAAGGAAATGAGCAACATATTTATGTATTTGGGCCGAGATACATACATGTTACCATTTCTAACATTTTGGATAAGACTTAAAAATGGGAAAAGCTCAAGGTGGCAAGAGAGGAAAACACACCAACTTCCCAGTCAATGTGACCTGCCCTTCCATCACCGGGTAGGTAGGCAGAGAGCTAAGTAGCAATAGTAAAGACTCCTCCCTCACTTACCTGAACAAGTTTTCCTGTCTTCATTCAAGGTATAACCTTCATAGCACTCACAATGATAAGAGCCACTTCTGTCATTCACACAGATGTGCTCACATCCGTGGGTGTTAAGAGCACACCTATCAAGAGCTATCAAAAGATGATTGGGACAAATGTAAATGCATGCAGAGCATGGCAGAAATAATTGTGGGCCACGCCACTTACAGTTATACACACACACACACACACACACACACACACAGAGCTAATGAAACAAGGGAGGGGCAGCTGGGAGTTGGGAACCAACCCTCCGGTCTTGGCTCTTTCACTAAGAGACCCTGTGACATAGGTAAGTTTTTTCCCTTCTGTCCATCTCAATTTCATTATCTATAAAATTAAGTTATCTCTAAGCTTTCTTCCTCCCAAAAACTTTTTTCTAGGATTAAAAACAAAACAAAAAAATATATAATTCCCATTCCTCATTGACTCCATGTATGTATCTATGTACCAGACCAGTGAGTACCCCTCTAACTTCTTTGCTACTTCTAGATTCCATGAGCATCTATGACTAGAGAGGAAGAGGGTAGCTTGCATGTAATGAAATAAAATCCAGGAAAATTTTCAAATCCTCAAAAGGGCTAAGAATCTTGGACCCGTTTCTTTTCCTTTTTGTGTGTGTGGGTTCTGTTTTCTGAAAGAAGGTCTCCCTCTGTGGCAGTGCAGCAGAGGCATTATCATAGCTCACTGCAGCCTCGACCTCCTGGTCTCAAACAATCCTCCCATCTCGGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCACACCTGGCTTTTTTTTTTAAATTATTTTTTGTAGAGATGGGGTCTCACCATGTTCTCGAGGCTAATCTCGAATTAGCCTCAAACTATCCTACCATCTCAGCCTCCCAAAATGTGGGAATTATAGGCATGAGCTACTGCACTCAGCCTGGACCTCTTTCTTAGTAGCCTTTTCTCCTACGATTTTATTTAAAACTTACAAAGTATGGAAATAAGCTGATTTATCTATCATTTCACTTTTCTCCCTAAGCTCCTTTTCAGGGAAAACTGCTGATGAACACCAGTAAACCAGCCAAAAGGCAGTTAGGTAAAAAGGGGTCAGAGAGTCAAAGCACAAGGCCAGTCCAAAACCTGGAGCATAGGTTCCCAAGTATTTGATTCAGTCACGGCCCCCTACACAGGCCTCACCTGAACACGTTTTCTTGTCGGCATTCAAGGTGTATCCTTGGCTACACTCACAGTGGTGCTTGCCTTCCCCATCACTGATGCAGACGTGCTGGCACTGGTGTGTTCCAAGCACACAGGGGTCCAGCGCTGTGAGAGGAAGTTTACAACAGTCAGCACTGACACTTAGGAAACATCTCAGATACCGTCTCCCATGTCAATAGACATTGCTCTCTGGGCTCCTTTCCGAGTCCATCTTTACTTCACTATAAAAAAATGGTTATTTGTTTTCTGCCTCTGGCTTATTAGCAATGCTACTCTTAAACTAGAAATTGTTGCTAATTTAAAAGTACACATCTTGCTATATAGACTTTCTCAAGGGAGAAAGGGAATTTGGAGTTTGGAGCTGAAGCCAAACACTTACATAGGCCAGGCAATTGGATGTTTTATTTGGCTTATCCGCCTCCCCATGAAAAAAAGATTTGTGCTTCCCCACCACAAGAAATGGGAGAACAATAAATGCACAGCCTGAAGTGACGTGAGCTAGTTGTCCCATTGTAGCCAGAATCTGATTTCCAAGGTTCTATAGCCTATGTCTAAACAGAATTCTCACACAAGTCTGGGTCTAAGCCTAGAACGAACTCACAGGTGGGCAGTGGTACATATTTGAACATGCAAATGGTAGAGGACAGTTCGGGTAACTGTCTTCTGAATATGTAAGGTGGGTGAAGTCATCCATACGCTAAATCCATAGTGAACTCATATGCTAATACAAACAGGTAAAAAGAAAAGAACAAAATAAATGAGATTACATTAGCTAAACTACATCTCCATCTTATTGCTCCTGGAGCCATTTATATCTCATTGGATATTTTTTTCCTAGTGACCTCTTTTGAAAGATGAATCAATGAATTAAGTCATTTCTGAGAAACCAAGGAGGCCTGTTGAAGGAGGCTGGCCCTCCTGTGGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTTCCTGGGAGAAAGAAAGCCACTTTCTTTTTGGAAGCCAACGAATGCCAAGTAGATGCCACCAAAGCCAGTGATGGCTTGTGAAAGCCCAGTGTCCTGGGACAGGAAAGACAAGGGGATCCCAGCCAAGTCTGACTGCAATGAGGCCAAACGTTGCCCCAGAGCAAGACTTCATCTCCCTTTTCCTGACAAACCATTGATGGCTGCGTTTCACATTAACCTAGATTAAAAGTCTCCTTGAAATGTATAATTGTAATTAATTATTGGTTCATTTGTTTGTCTCACCCCCACCCCCAGAATGTTACTTAATGGTATGGAGGGATTACCTTTATCTTTGTATCATCAGAGATCAATAAATGCATGCTGAATAAATAAGTGTGAAATAAATTATATTGCAAAAAGATATCTATGTTTAAAAATTCACCTGAACTAGAAATTTGTCCACAACTGCTTGGATATTCACATAGAGGGAACAAAAGATTATCTCCAGATGATAAAAAAATAAAGCATGAGTCCCACAGATCATAATTCTGATCAGTGACTAAAATTAAACTCCAGCATTGAATGGATCTGTAGTCCTAGATTTGGTCAATTCATGCTAAAAATTCCAATAAAATTAGCATGTCCTTATTCAAATTCCATCCTAAAGGATGGAAGGAGTAGCAGAGTTAACAGAATGATTTCTTAAGATCATCTTGCTTTCTTTCAAGTGAGCTGAAACCCTAATCTGCCTGGTCCCTGAATCCTGTTCTTCAACAAAGAGTAATCAGATAAACAGCCCAGTCTGAAAACCA
AGATTTATGAAAAGGTTGCAAAAACAGTGCAAAAAATTCCTGTACTTCACCCTGTTTCCCCAAACAGTAATTTACATAACCATAGTATGATTATCAAACCAGAAATTAACATTGATATAATATGATTTACTAATCTACAGACTTTATTCAAATGTTGCCATTAATGTCCTTTTTCTGGTCCAGGATCCAATCCAGGATTCCACATTGCATTCAGTTTCACATCTCCGTCCTCTCCAACCTGGGACACTTCCTAAGTCTTTCTTTGTCTTTTATGACTTTCACGTTTCTGAGAAGTACTGGAAAACTATTTTGTGAACTGAGAGTGTCTCTCAGGTTTTTCTAATCTTTCCTCATAATCCTGAATTTTTAGCAAGAATACTACAGGTGTGCTGTTGTGTCCACAGTATTGAGCACAGCATGTCAGGTCATACATGATGTCACTATGTGTCATCACTGATGATGTTAACTTTGATCACTTAGTTAAGGTGATGTCTGCCAGTTTCTCCACTATAAAGTTACTGTCTTTCCCTTTGTAAGCAACAGGTAACTTGTGGGTTGTTATGTGATTTCAACCTACTGAATTGTCTGTAGCATTTGGGAAGGATTGTTCAGGCTGGCTACAGAGAAGGAAATGAGCAACATATTTATGTATTTGGGCCGAGATACATACATGTTACCATTTCTAACATTTTGGATAAGACTTAAAAATGGGAAAAGCTCAAGGTGGCAAGAGAGGAAAACACACCAACTTCCCAGTCAATGTGACCTGCCCTTCCATCACCGGGTAGGTAGGCAGAGAGCTAAGTAGCAATAGTAAAGACTCCTCCCTCACTTACCTGAACAAGTTTTCCTGTCTTCATTCAAGGTATAACCTTCATAGCACTCACAATGATAAGAGCCACTTCTGTCATTCACACAGATGTGCTCACATCCGTGGGTGTTAAGAGCACACCTATCAAGAGCTATCAAAAGATGATTGGGACAAATGTAAATGCATGCAGAGCATGGCAGAAATAATTGTGGGCCACGCCACTTACAGTTATACACACACACACACACACACACACACACACAGAGCTAATGAAACAAGGGAGGGGCAGCTGGGAGTTGGGAACCAACCCTCCGGTCTTGGCTCTTTCACTAAGAGACCCTGTGACATAGGTAAGTTTTTTCCCTTCTGTCCATCTCAATTTCATTATCTATAAAATTAAGTTATCTCTAAGCTTTCTTCCTCCCAAAAACTTTTTTCTAGGATTAAAAACAAAACAAAAAAATATATAATTCCCATTCCTCATTGACTCCATGTATGTATCTATGTACCAGACCAGTGAGTACCCCTCTAACTTCTTTGCTACTTCTAGATTCCATGAGCATCTATGACTAGAGAGGAAGAGGGTAGCTTGCATGTAATGAAATAAAATCCAGGAAAATTTTCAAATCCTCAAAAGGGCTAAGAATCTTGGACCCGTTTCTTTTCCTTTTTGTGTGTGTGGGTTCTGTTTTCTGAAAGAAGGTCTCCCTCTGTGGCAGTGCAGCAGAGGCATTATCATAGCTCACTGCAGCCTCGACCTCCTGGTCTCAAACAATCCTCCCATCTCGGCCTCCCAAGTAACTGGGACTACAGGCATGCACCACCACACCTGGCTTTTTTTTTTAAATTATTTTTTGTAGAGATGGGGTCTCACCATGTTCTCGAGGCTAATCTCGAATTAGCCTCAAACTATCCTACCATCTCAGCCTCCCAAAATGTGGGAATTATAGGCATGAGCTACTGCACTCAGCCTGGACCTCTTTCTTAGTAGCCTTTTCTCCTACGATTTTATTTAAAACTTACAAAGTATGGAAATAAGCTGATTTATCTATCATTTCACTTTTCTCCCTAAGCTCCTTTTCAGGGAAAACTGCTGATGAACACCAGTAAACCAGCCAAAAGGCAGTTAGGTAAAAAGGGGTCAGAGAGTCAAAGCACAAGGCCAGTCCAAAACCTGGAGCATAGGTTCCCAAGTATTTGATTCAGTCACGGCCCCCTACACAGGCCTCACCTGAACTCGTTTTCTTGTCGGCATTCAAGGTGTATCCTTGGCTACACTCACAGTGGTGCTTGCCTTCCCCATCACTGATGCAGACGTGCTGGCACTGGTGTGTTCCAAGCACACAGGGGTCCAGCGCTGTGAGAGGAAGTTTACAACAGTCAGCACTGACACTTAGGAAACATCTCAGATACCGTCTCCCATGTCAATAGACATTGCTCTCTGGGCTCCTTTCCGAGTCCATCTTTACTTCACTATAAAAAAATGGTTATTTGTTTTCTGCCTCTGGCTTATTAGCAATGCTACTCTTAAACTAGAAATTGTTGCTAATTTAAAAGTACACATCTTGCTATATAGACTTTCTCAAGGGAGAAAGGGAATTTGGAGTTTGGAGCTGAAGCCAAACACTTACATAGGCCAGGCAATTGGATGTTTTATTTGGCTTATCCGCCTCCCCATGAAAAAAAGATTTGTGCTTCCCCACCACAAGAAATGGGAGAACAATAAATGCACAGCCTGAAGTGACGTGAGCTAGTTGTCCCATTGTAGCCAGAATCTGATTTCCAAGGTTCTATAGCCTATGTCTAAACAGAATTCTCACACAAGTCTGGGTCTAAGCCTAGAACGAACTCACAGGTGGGCAGTGGTACATATTTGAACATGCAAATGGTAGAGGACAGTTCGGGTAACTGTCTTCTGAATATGTAAGGTGGGTGAAGTCATCCATACGCTAAATCCATAGTGAACTCATATGCTAATACAAACAGGTAAAAAGAAAAGAACAAAATAAATGAGATTACATTAGCTAAACTACATCTCCATCTTATTGCTCCTGGAGCCATTTATATCTCATTGGATATTTTTTTCCTAGTGACCTCTTTTGAAAGATGAATCAATGAATTAAGTCATTTCTGAGAAACCAAGGAGGCCTGTTGAAGGAGGCTGGCCCTCCTGTGGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTTCCTGGGAGAAAGAAAGCCACTTTCTTTTTGGAAGCCAACGAATGCCAAGTAGATGCCACCAAAGCCAGTGATGGCTTGTGAAAGCCCAGTGTCCTGGGACAGGAAAGACAAGGGGATCCCAGCCAAGTCTGACTGCAATGAGGCCAAACGTTGCCCCAGAGCAAGACTTCATCTCCCTTTTCCTGACAAACCATTGATGGCTGCGTTTCACATTAACCTAGATTAAAAGTCTCCTTGAAATGTATAATTGTAATTAATTATTGGTTCATTTGTTTGTCTCACCCCCACCCCCAGAATGTTACTTAATGGTATGGAGGGATTACCTTTATCTTTGTATCATCAGAGATCAATAAATGCATGCTGAATAAATAAGTGTGAAATAAATTATATTGCAAAAAGATATCTATGTTTAAAAATTCACCTGAACTAGAAATTTGTCCACAACTGCTTGGATATTCACATAGAGGGAACAAAAGATTATCTCCAGATGATAAAAAAATAAAGCATGAGTCCCACAGATCATAATTCTGATCAGTGACTAAAATTAAACTCCAGCATTGAATGGATCTGTAGTCCTAGATTTGGTCAATTCATGCTAAAAATTCCAATAAAATTAGCATGTCCTTATTCAAATTCCATCCTAAAGGATGGAAGGAGTAGCAGAGTTAACAGAATGATTTCTTAAGATCATCTTGCTTTCTTTCAAGTGAGCTGAAACCCTAATCTGCCTGGTCCCTGAATCCTGTTCTTCAACAAAGAGTAATCAGATAAACAGCCCAGTCTGAAAACCA
Task1_train_3134
A mutation on Chromosome 2 affecting MATN3 (matrilin 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; not provided
TCGGGTAACTGTCTTCTGAATATGTAAGGTGGGTGAAGTCATCCATACGCTAAATCCATAGTGAACTCATATGCTAATACAAACAGGTAAAAAGAAAAGAACAAAATAAATGAGATTACATTAGCTAAACTACATCTCCATCTTATTGCTCCTGGAGCCATTTATATCTCATTGGATATTTTTTTCCTAGTGACCTCTTTTGAAAGATGAATCAATGAATTAAGTCATTTCTGAGAAACCAAGGAGGCCTGTTGAAGGAGGCTGGCCCTCCTGTGGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTTCCTGGGAGAAAGAAAGCCACTTTCTTTTTGGAAGCCAACGAATGCCAAGTAGATGCCACCAAAGCCAGTGATGGCTTGTGAAAGCCCAGTGTCCTGGGACAGGAAAGACAAGGGGATCCCAGCCAAGTCTGACTGCAATGAGGCCAAACGTTGCCCCAGAGCAAGACTTCATCTCCCTTTTCCTGACAAACCATTGATGGCTGCGTTTCACATTAACCTAGATTAAAAGTCTCCTTGAAATGTATAATTGTAATTAATTATTGGTTCATTTGTTTGTCTCACCCCCACCCCCAGAATGTTACTTAATGGTATGGAGGGATTACCTTTATCTTTGTATCATCAGAGATCAATAAATGCATGCTGAATAAATAAGTGTGAAATAAATTATATTGCAAAAAGATATCTATGTTTAAAAATTCACCTGAACTAGAAATTTGTCCACAACTGCTTGGATATTCACATAGAGGGAACAAAAGATTATCTCCAGATGATAAAAAAATAAAGCATGAGTCCCACAGATCATAATTCTGATCAGTGACTAAAATTAAACTCCAGCATTGAATGGATCTGTAGTCCTAGATTTGGTCAATTCATGCTAAAAATTCCAATAAAATTAGCATGTCCTTATTCAAATTCCATCCTAAAGGATGGAAGGAGTAGCAGAGTTAACAGAATGATTTCTTAAGATCATCTTGCTTTCTTTCAAGTGAGCTGAAACCCTAATCTGCCTGGTCCCTGAATCCTGTTCTTCAACAAAGAGTAATCAGATAAACAGCCCAGTCTGAAAACCAGAGCATTCACTAAATGCACACTCGGGCTGACGGTGACATTGGAATAGAGGCCTGCTGACTCTCCCAAGGACAGACGCTTCTCCCTGTCTTCTGCAGGAGAACAAACAGAGTTCTGTTAGATCTAGAGATGGTAAAACTAAAAAAATATGTATCAGGGGAAAAAAATGTAGTGGTGGGGCAGAGGGGACAGGAGAGGCATCTTGAGTTTTGTTTTTCCTGACCCTGACAGGGAACAGCAGGGTCATTTATCCTGGATATTTGCAGACCTTCACAGTTCTAACGCAAACATGAAGATTTTATGAGCAAACCAAGTTCCATATAATGCAGCTCTATATTCCTAAACCAATAGAGTGTGTTTAGGTTGGTCGCACACACGCGCGCATGCACACGTGCACACACACACACGCATTGGATATATTTAAGTTTTTCATTAAATTTCCACCAAAAAAGAATAATACTCTTTTCTCTGGGTACACAATGTCTGAATATAACATCCTTTCTAGTTGGAAGCAAAGACTGACCAACTTACCACAGAAGGTTTCCTGGAATCTAGAGGAAAGTTTCTCAATGACCCCATAGGTCTCCACGTAGAAAACATGCTCCTCTAGGGGCTCACTGGCCATCATCTTGAGGGACGCCATGTCTGCCCGGTCCACGCCCACAGCATAGAGCTCAATACCAGATGCTTGGGCCCGAGCCGCCACCTCATTCACCTGGTCCTGGGGCCTCCCATCTGTAACAATGATGGCCACCTTAGGGATGTTAGAAGAGGGCTCTCGAGCCCCTGCCTCCACTGTGAAGGCTTCGTCCATTGCTGTCTGGATGGCTAGGCCTGACATGGTGCCTGTTGACAAGGGTGTGATTCGACCCACGGCCTGCTTCAGGGACTGCTTATCTGTGTAGGCCTGGAGTTGGAACTCGATCTTCACAGTGCTAGCATAGTTCACCACTGCCACCCGCGTGTCGGCTGGCCCAATGTCCAGAGTGTCGATTATCCGGGAGACAAAAGTTTTCACTTTGGTGAATTCCAGGGGCCGTACGCTACGAGAACTATCAATGATAAACACCAGGTCCAAGGGTCTGCTCTTGCAAACACCTGCAAAAGACCAAGCAATGATCAGACCACAATTAGAAATGCAGTAATCCTCACTTCCAGAGAACTCTGGGATTCCAGGAGGCCAGGCAAGGCAGCATCTCCTGACCCCAACATCACCACTGCCTGCGACCTTCCCCAAGACCATCGGGGTGTTGAAAGCACCAAGGACTTCAGAATTCCCTAGTGAGAATTCACCTGGAGGTGTGAAGTTTCCCCAAATACCTCACCTGCAGGCTGGCTGAATCCTGAAATTTCACTTAGAACCTCATCCCTCTGCTTAAGCTTTTGCTCCCAAGGGCCCTCATGATTCCTGGGAATTAATAGATTCTACACATTTCTTAAGTACCTTGGCTATCTGGAGCAATTGGACAATGTGTCCCTGAACCATGTAAAAGGCCTTGGGCCCTCAGGGACAGCCTCACTGCCAACCACTGTGCCCAAGCCTCAGGCAATGGTAGTCTGAGGCAAGGCACTCAGGGGCTCTTCTGGTGGCCCCCCTCTTTTACTCCACTTCCAAGGGGCTGAAAACTGCTCCAGAGTATCCCTGAATTCTCCCTCCATCTGGCCATCTTTCCTGTTTAGTGAATTTGGGGGCTCACTGGAGCCCTGAACTAATTTAAAGTAGAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAAATCAAGAGGTCAGGAGATCAAGACCATCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCCTGTATTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGACAGAGCTTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAACAAAACAAAAAAAAAAGTAAGTAGAAAGAGGGGCCCGGGCGCGGTGGCTCACGCCTGGTAATCCCAACACTGTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACTTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCGGGTCGTAGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCCTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAGACATCATCTCAAAAAAAAAGTAGAATGAGGGATGCCAACTTAATCTTGTATCTGTTTAGTGAGCTTCCAGCTTCATGAGCATGTCTCGTAAGAAGCAGGGATTGTGATCTGGTATCTACCCTACTGCCCCAACTAACTCTCTTGGTCATCTCTCTTTTGACTTATTCATTCACCAAAAACATTTTTTGAGGGCCTACATGTATGAAGCCCTGGAGCTACAAAAGCATATAAACCAGATAGCCAGATTTCCCACCTTCAAAGAATTTATCTCTTTTCTACACAAAAGTACCTAACAGTTTAGTATCACAGTACATTTTAGTGTTCATCTATTCTTTCCTGTTCTTTCCTGTTTCCCCCAACCCCTGTTTGCACACCCTCTCTCCTCGATACAAAAATCAAATCCACA
TCGGGTAACTGTCTTCTGAATATGTAAGGTGGGTGAAGTCATCCATACGCTAAATCCATAGTGAACTCATATGCTAATACAAACAGGTAAAAAGAAAAGAACAAAATAAATGAGATTACATTAGCTAAACTACATCTCCATCTTATTGCTCCTGGAGCCATTTATATCTCATTGGATATTTTTTTCCTAGTGACCTCTTTTGAAAGATGAATCAATGAATTAAGTCATTTCTGAGAAACCAAGGAGGCCTGTTGAAGGAGGCTGGCCCTCCTGTGGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTTCCTGGGAGAAAGAAAGCCACTTTCTTTTTGGAAGCCAACGAATGCCAAGTAGATGCCACCAAAGCCAGTGATGGCTTGTGAAAGCCCAGTGTCCTGGGACAGGAAAGACAAGGGGATCCCAGCCAAGTCTGACTGCAATGAGGCCAAACGTTGCCCCAGAGCAAGACTTCATCTCCCTTTTCCTGACAAACCATTGATGGCTGCGTTTCACATTAACCTAGATTAAAAGTCTCCTTGAAATGTATAATTGTAATTAATTATTGGTTCATTTGTTTGTCTCACCCCCACCCCCAGAATGTTACTTAATGGTATGGAGGGATTACCTTTATCTTTGTATCATCAGAGATCAATAAATGCATGCTGAATAAATAAGTGTGAAATAAATTATATTGCAAAAAGATATCTATGTTTAAAAATTCACCTGAACTAGAAATTTGTCCACAACTGCTTGGATATTCACATAGAGGGAACAAAAGATTATCTCCAGATGATAAAAAAATAAAGCATGAGTCCCACAGATCATAATTCTGATCAGTGACTAAAATTAAACTCCAGCATTGAATGGATCTGTAGTCCTAGATTTGGTCAATTCATGCTAAAAATTCCAATAAAATTAGCATGTCCTTATTCAAATTCCATCCTAAAGGATGGAAGGAGTAGCAGAGTTAACAGAATGATTTCTTAAGATCATCTTGCTTTCTTTCAAGTGAGCTGAAACCCTAATCTGCCTGGTCCCTGAATCCTGTTCTTCAACAAAGAGTAATCAGATAAACAGCCCAGTCTGAAAACCAGAGCATTCACTAAATGCACACTCGGGCTGACGGTGACATTGGAATAGAGGCCTGCTGACTCTCCCAAGGACAGACGCTTCTCCCTGTCTTCTGCAGGAGAACAAACAGAGTTCTGTTAGATCTAGAGATGGTAAAACTAAAAAAATATGTATCAGGGGAAAAAAATGTAGTGGTGGGGCAGAGGGGACAGGAGAGGCATCTTGAGTTTTGTTTTTCCTGACCCTGACAGGGAACAGCAGGGTCATTTATCCTGGATATTTGCAGACCTTCACAGTTCTAACGCAAACATGAAGATTTTATGAGCAAACCAAGTTCCATATAATGCAGCTCTATATTCCTAAACCAATAGAGTGTGTTTAGGTTGGTCGCACACACGCGCGCATGCACACGTGCACACACACACACGCATTGGATATATTTAAGTTTTTCATTAAATTTCCACCAAAAAAGAATAATACTCTTTTCTCTGGGTACACAATGTCTGAATATAACATCCTTTCTAGTTGGAAGCAAAGACTGACCAACTTACCACAGAAGGTTTCCTGGAATCTAGAGGAAAGTTTCTCAATGACCCCATAGGTCTCCACGTAGAAAACATGCTCCTCTAGGGGCTCACTGGCCATCATCTTGAGGGACGCCATGTCTGCCCGGTCCACGCCCACATCATAGAGCTCAATACCAGATGCTTGGGCCCGAGCCGCCACCTCATTCACCTGGTCCTGGGGCCTCCCATCTGTAACAATGATGGCCACCTTAGGGATGTTAGAAGAGGGCTCTCGAGCCCCTGCCTCCACTGTGAAGGCTTCGTCCATTGCTGTCTGGATGGCTAGGCCTGACATGGTGCCTGTTGACAAGGGTGTGATTCGACCCACGGCCTGCTTCAGGGACTGCTTATCTGTGTAGGCCTGGAGTTGGAACTCGATCTTCACAGTGCTAGCATAGTTCACCACTGCCACCCGCGTGTCGGCTGGCCCAATGTCCAGAGTGTCGATTATCCGGGAGACAAAAGTTTTCACTTTGGTGAATTCCAGGGGCCGTACGCTACGAGAACTATCAATGATAAACACCAGGTCCAAGGGTCTGCTCTTGCAAACACCTGCAAAAGACCAAGCAATGATCAGACCACAATTAGAAATGCAGTAATCCTCACTTCCAGAGAACTCTGGGATTCCAGGAGGCCAGGCAAGGCAGCATCTCCTGACCCCAACATCACCACTGCCTGCGACCTTCCCCAAGACCATCGGGGTGTTGAAAGCACCAAGGACTTCAGAATTCCCTAGTGAGAATTCACCTGGAGGTGTGAAGTTTCCCCAAATACCTCACCTGCAGGCTGGCTGAATCCTGAAATTTCACTTAGAACCTCATCCCTCTGCTTAAGCTTTTGCTCCCAAGGGCCCTCATGATTCCTGGGAATTAATAGATTCTACACATTTCTTAAGTACCTTGGCTATCTGGAGCAATTGGACAATGTGTCCCTGAACCATGTAAAAGGCCTTGGGCCCTCAGGGACAGCCTCACTGCCAACCACTGTGCCCAAGCCTCAGGCAATGGTAGTCTGAGGCAAGGCACTCAGGGGCTCTTCTGGTGGCCCCCCTCTTTTACTCCACTTCCAAGGGGCTGAAAACTGCTCCAGAGTATCCCTGAATTCTCCCTCCATCTGGCCATCTTTCCTGTTTAGTGAATTTGGGGGCTCACTGGAGCCCTGAACTAATTTAAAGTAGAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAAATCAAGAGGTCAGGAGATCAAGACCATCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCCTGTATTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGACAGAGCTTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAACAAAACAAAAAAAAAAGTAAGTAGAAAGAGGGGCCCGGGCGCGGTGGCTCACGCCTGGTAATCCCAACACTGTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACTTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCGGGTCGTAGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCCTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAGACATCATCTCAAAAAAAAAGTAGAATGAGGGATGCCAACTTAATCTTGTATCTGTTTAGTGAGCTTCCAGCTTCATGAGCATGTCTCGTAAGAAGCAGGGATTGTGATCTGGTATCTACCCTACTGCCCCAACTAACTCTCTTGGTCATCTCTCTTTTGACTTATTCATTCACCAAAAACATTTTTTGAGGGCCTACATGTATGAAGCCCTGGAGCTACAAAAGCATATAAACCAGATAGCCAGATTTCCCACCTTCAAAGAATTTATCTCTTTTCTACACAAAAGTACCTAACAGTTTAGTATCACAGTACATTTTAGTGTTCATCTATTCTTTCCTGTTCTTTCCTGTTTCCCCCAACCCCTGTTTGCACACCCTCTCTCCTCGATACAAAAATCAAATCCACA
Task1_train_3135
This sequence change occurs on Chromosome 2, altering MATN3 (matrilin 3). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Multiple epiphyseal dysplasia type 5
AATACAAACAGGTAAAAAGAAAAGAACAAAATAAATGAGATTACATTAGCTAAACTACATCTCCATCTTATTGCTCCTGGAGCCATTTATATCTCATTGGATATTTTTTTCCTAGTGACCTCTTTTGAAAGATGAATCAATGAATTAAGTCATTTCTGAGAAACCAAGGAGGCCTGTTGAAGGAGGCTGGCCCTCCTGTGGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTTCCTGGGAGAAAGAAAGCCACTTTCTTTTTGGAAGCCAACGAATGCCAAGTAGATGCCACCAAAGCCAGTGATGGCTTGTGAAAGCCCAGTGTCCTGGGACAGGAAAGACAAGGGGATCCCAGCCAAGTCTGACTGCAATGAGGCCAAACGTTGCCCCAGAGCAAGACTTCATCTCCCTTTTCCTGACAAACCATTGATGGCTGCGTTTCACATTAACCTAGATTAAAAGTCTCCTTGAAATGTATAATTGTAATTAATTATTGGTTCATTTGTTTGTCTCACCCCCACCCCCAGAATGTTACTTAATGGTATGGAGGGATTACCTTTATCTTTGTATCATCAGAGATCAATAAATGCATGCTGAATAAATAAGTGTGAAATAAATTATATTGCAAAAAGATATCTATGTTTAAAAATTCACCTGAACTAGAAATTTGTCCACAACTGCTTGGATATTCACATAGAGGGAACAAAAGATTATCTCCAGATGATAAAAAAATAAAGCATGAGTCCCACAGATCATAATTCTGATCAGTGACTAAAATTAAACTCCAGCATTGAATGGATCTGTAGTCCTAGATTTGGTCAATTCATGCTAAAAATTCCAATAAAATTAGCATGTCCTTATTCAAATTCCATCCTAAAGGATGGAAGGAGTAGCAGAGTTAACAGAATGATTTCTTAAGATCATCTTGCTTTCTTTCAAGTGAGCTGAAACCCTAATCTGCCTGGTCCCTGAATCCTGTTCTTCAACAAAGAGTAATCAGATAAACAGCCCAGTCTGAAAACCAGAGCATTCACTAAATGCACACTCGGGCTGACGGTGACATTGGAATAGAGGCCTGCTGACTCTCCCAAGGACAGACGCTTCTCCCTGTCTTCTGCAGGAGAACAAACAGAGTTCTGTTAGATCTAGAGATGGTAAAACTAAAAAAATATGTATCAGGGGAAAAAAATGTAGTGGTGGGGCAGAGGGGACAGGAGAGGCATCTTGAGTTTTGTTTTTCCTGACCCTGACAGGGAACAGCAGGGTCATTTATCCTGGATATTTGCAGACCTTCACAGTTCTAACGCAAACATGAAGATTTTATGAGCAAACCAAGTTCCATATAATGCAGCTCTATATTCCTAAACCAATAGAGTGTGTTTAGGTTGGTCGCACACACGCGCGCATGCACACGTGCACACACACACACGCATTGGATATATTTAAGTTTTTCATTAAATTTCCACCAAAAAAGAATAATACTCTTTTCTCTGGGTACACAATGTCTGAATATAACATCCTTTCTAGTTGGAAGCAAAGACTGACCAACTTACCACAGAAGGTTTCCTGGAATCTAGAGGAAAGTTTCTCAATGACCCCATAGGTCTCCACGTAGAAAACATGCTCCTCTAGGGGCTCACTGGCCATCATCTTGAGGGACGCCATGTCTGCCCGGTCCACGCCCACAGCATAGAGCTCAATACCAGATGCTTGGGCCCGAGCCGCCACCTCATTCACCTGGTCCTGGGGCCTCCCATCTGTAACAATGATGGCCACCTTAGGGATGTTAGAAGAGGGCTCTCGAGCCCCTGCCTCCACTGTGAAGGCTTCGTCCATTGCTGTCTGGATGGCTAGGCCTGACATGGTGCCTGTTGACAAGGGTGTGATTCGACCCACGGCCTGCTTCAGGGACTGCTTATCTGTGTAGGCCTGGAGTTGGAACTCGATCTTCACAGTGCTAGCATAGTTCACCACTGCCACCCGCGTGTCGGCTGGCCCAATGTCCAGAGTGTCGATTATCCGGGAGACAAAAGTTTTCACTTTGGTGAATTCCAGGGGCCGTACGCTACGAGAACTATCAATGATAAACACCAGGTCCAAGGGTCTGCTCTTGCAAACACCTGCAAAAGACCAAGCAATGATCAGACCACAATTAGAAATGCAGTAATCCTCACTTCCAGAGAACTCTGGGATTCCAGGAGGCCAGGCAAGGCAGCATCTCCTGACCCCAACATCACCACTGCCTGCGACCTTCCCCAAGACCATCGGGGTGTTGAAAGCACCAAGGACTTCAGAATTCCCTAGTGAGAATTCACCTGGAGGTGTGAAGTTTCCCCAAATACCTCACCTGCAGGCTGGCTGAATCCTGAAATTTCACTTAGAACCTCATCCCTCTGCTTAAGCTTTTGCTCCCAAGGGCCCTCATGATTCCTGGGAATTAATAGATTCTACACATTTCTTAAGTACCTTGGCTATCTGGAGCAATTGGACAATGTGTCCCTGAACCATGTAAAAGGCCTTGGGCCCTCAGGGACAGCCTCACTGCCAACCACTGTGCCCAAGCCTCAGGCAATGGTAGTCTGAGGCAAGGCACTCAGGGGCTCTTCTGGTGGCCCCCCTCTTTTACTCCACTTCCAAGGGGCTGAAAACTGCTCCAGAGTATCCCTGAATTCTCCCTCCATCTGGCCATCTTTCCTGTTTAGTGAATTTGGGGGCTCACTGGAGCCCTGAACTAATTTAAAGTAGAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAAATCAAGAGGTCAGGAGATCAAGACCATCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCCTGTATTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGACAGAGCTTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAACAAAACAAAAAAAAAAGTAAGTAGAAAGAGGGGCCCGGGCGCGGTGGCTCACGCCTGGTAATCCCAACACTGTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACTTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCGGGTCGTAGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCCTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAGACATCATCTCAAAAAAAAAGTAGAATGAGGGATGCCAACTTAATCTTGTATCTGTTTAGTGAGCTTCCAGCTTCATGAGCATGTCTCGTAAGAAGCAGGGATTGTGATCTGGTATCTACCCTACTGCCCCAACTAACTCTCTTGGTCATCTCTCTTTTGACTTATTCATTCACCAAAAACATTTTTTGAGGGCCTACATGTATGAAGCCCTGGAGCTACAAAAGCATATAAACCAGATAGCCAGATTTCCCACCTTCAAAGAATTTATCTCTTTTCTACACAAAAGTACCTAACAGTTTAGTATCACAGTACATTTTAGTGTTCATCTATTCTTTCCTGTTCTTTCCTGTTTCCCCCAACCCCTGTTTGCACACCCTCTCTCCTCGATACAAAAATCAAATCCACAAGTCAGGATGAGACAAGAAAAAAAGCCAATTATTAAACTTCTTTTTCTTTTTTTTGAGACGGAGTCTCATTCTGT
AATACAAACAGGTAAAAAGAAAAGAACAAAATAAATGAGATTACATTAGCTAAACTACATCTCCATCTTATTGCTCCTGGAGCCATTTATATCTCATTGGATATTTTTTTCCTAGTGACCTCTTTTGAAAGATGAATCAATGAATTAAGTCATTTCTGAGAAACCAAGGAGGCCTGTTGAAGGAGGCTGGCCCTCCTGTGGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTTCCTGGGAGAAAGAAAGCCACTTTCTTTTTGGAAGCCAACGAATGCCAAGTAGATGCCACCAAAGCCAGTGATGGCTTGTGAAAGCCCAGTGTCCTGGGACAGGAAAGACAAGGGGATCCCAGCCAAGTCTGACTGCAATGAGGCCAAACGTTGCCCCAGAGCAAGACTTCATCTCCCTTTTCCTGACAAACCATTGATGGCTGCGTTTCACATTAACCTAGATTAAAAGTCTCCTTGAAATGTATAATTGTAATTAATTATTGGTTCATTTGTTTGTCTCACCCCCACCCCCAGAATGTTACTTAATGGTATGGAGGGATTACCTTTATCTTTGTATCATCAGAGATCAATAAATGCATGCTGAATAAATAAGTGTGAAATAAATTATATTGCAAAAAGATATCTATGTTTAAAAATTCACCTGAACTAGAAATTTGTCCACAACTGCTTGGATATTCACATAGAGGGAACAAAAGATTATCTCCAGATGATAAAAAAATAAAGCATGAGTCCCACAGATCATAATTCTGATCAGTGACTAAAATTAAACTCCAGCATTGAATGGATCTGTAGTCCTAGATTTGGTCAATTCATGCTAAAAATTCCAATAAAATTAGCATGTCCTTATTCAAATTCCATCCTAAAGGATGGAAGGAGTAGCAGAGTTAACAGAATGATTTCTTAAGATCATCTTGCTTTCTTTCAAGTGAGCTGAAACCCTAATCTGCCTGGTCCCTGAATCCTGTTCTTCAACAAAGAGTAATCAGATAAACAGCCCAGTCTGAAAACCAGAGCATTCACTAAATGCACACTCGGGCTGACGGTGACATTGGAATAGAGGCCTGCTGACTCTCCCAAGGACAGACGCTTCTCCCTGTCTTCTGCAGGAGAACAAACAGAGTTCTGTTAGATCTAGAGATGGTAAAACTAAAAAAATATGTATCAGGGGAAAAAAATGTAGTGGTGGGGCAGAGGGGACAGGAGAGGCATCTTGAGTTTTGTTTTTCCTGACCCTGACAGGGAACAGCAGGGTCATTTATCCTGGATATTTGCAGACCTTCACAGTTCTAACGCAAACATGAAGATTTTATGAGCAAACCAAGTTCCATATAATGCAGCTCTATATTCCTAAACCAATAGAGTGTGTTTAGGTTGGTCGCACACACGCGCGCATGCACACGTGCACACACACACACGCATTGGATATATTTAAGTTTTTCATTAAATTTCCACCAAAAAAGAATAATACTCTTTTCTCTGGGTACACAATGTCTGAATATAACATCCTTTCTAGTTGGAAGCAAAGACTGACCAACTTACCACAGAAGGTTTCCTGGAATCTAGAGGAAAGTTTCTCAATGACCCCATAGGTCTCCACGTAGAAAACATGCTCCTCTAGGGGCTCACTGGCCATCATCTTGAGGGACGCCATGTCTGCCCGGTCCACGCCCACAGCATAGAGCTCAATACCAGATGCTTGGGCCCGAGCCGCCACCTCATTCACCTGGTCCTGGGGCCTCCCATCTGTATCAATGATGGCCACCTTAGGGATGTTAGAAGAGGGCTCTCGAGCCCCTGCCTCCACTGTGAAGGCTTCGTCCATTGCTGTCTGGATGGCTAGGCCTGACATGGTGCCTGTTGACAAGGGTGTGATTCGACCCACGGCCTGCTTCAGGGACTGCTTATCTGTGTAGGCCTGGAGTTGGAACTCGATCTTCACAGTGCTAGCATAGTTCACCACTGCCACCCGCGTGTCGGCTGGCCCAATGTCCAGAGTGTCGATTATCCGGGAGACAAAAGTTTTCACTTTGGTGAATTCCAGGGGCCGTACGCTACGAGAACTATCAATGATAAACACCAGGTCCAAGGGTCTGCTCTTGCAAACACCTGCAAAAGACCAAGCAATGATCAGACCACAATTAGAAATGCAGTAATCCTCACTTCCAGAGAACTCTGGGATTCCAGGAGGCCAGGCAAGGCAGCATCTCCTGACCCCAACATCACCACTGCCTGCGACCTTCCCCAAGACCATCGGGGTGTTGAAAGCACCAAGGACTTCAGAATTCCCTAGTGAGAATTCACCTGGAGGTGTGAAGTTTCCCCAAATACCTCACCTGCAGGCTGGCTGAATCCTGAAATTTCACTTAGAACCTCATCCCTCTGCTTAAGCTTTTGCTCCCAAGGGCCCTCATGATTCCTGGGAATTAATAGATTCTACACATTTCTTAAGTACCTTGGCTATCTGGAGCAATTGGACAATGTGTCCCTGAACCATGTAAAAGGCCTTGGGCCCTCAGGGACAGCCTCACTGCCAACCACTGTGCCCAAGCCTCAGGCAATGGTAGTCTGAGGCAAGGCACTCAGGGGCTCTTCTGGTGGCCCCCCTCTTTTACTCCACTTCCAAGGGGCTGAAAACTGCTCCAGAGTATCCCTGAATTCTCCCTCCATCTGGCCATCTTTCCTGTTTAGTGAATTTGGGGGCTCACTGGAGCCCTGAACTAATTTAAAGTAGAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAAATCAAGAGGTCAGGAGATCAAGACCATCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCCTGTATTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGACAGAGCTTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAACAAAACAAAAAAAAAAGTAAGTAGAAAGAGGGGCCCGGGCGCGGTGGCTCACGCCTGGTAATCCCAACACTGTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACTTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCGGGTCGTAGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCCTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAGACATCATCTCAAAAAAAAAGTAGAATGAGGGATGCCAACTTAATCTTGTATCTGTTTAGTGAGCTTCCAGCTTCATGAGCATGTCTCGTAAGAAGCAGGGATTGTGATCTGGTATCTACCCTACTGCCCCAACTAACTCTCTTGGTCATCTCTCTTTTGACTTATTCATTCACCAAAAACATTTTTTGAGGGCCTACATGTATGAAGCCCTGGAGCTACAAAAGCATATAAACCAGATAGCCAGATTTCCCACCTTCAAAGAATTTATCTCTTTTCTACACAAAAGTACCTAACAGTTTAGTATCACAGTACATTTTAGTGTTCATCTATTCTTTCCTGTTCTTTCCTGTTTCCCCCAACCCCTGTTTGCACACCCTCTCTCCTCGATACAAAAATCAAATCCACAAGTCAGGATGAGACAAGAAAAAAAGCCAATTATTAAACTTCTTTTTCTTTTTTTTGAGACGGAGTCTCATTCTGT
Task1_train_3136
Here’s a variant in MATN3 (matrilin 3) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Multiple epiphyseal dysplasia type 5
GGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTTCCTGGGAGAAAGAAAGCCACTTTCTTTTTGGAAGCCAACGAATGCCAAGTAGATGCCACCAAAGCCAGTGATGGCTTGTGAAAGCCCAGTGTCCTGGGACAGGAAAGACAAGGGGATCCCAGCCAAGTCTGACTGCAATGAGGCCAAACGTTGCCCCAGAGCAAGACTTCATCTCCCTTTTCCTGACAAACCATTGATGGCTGCGTTTCACATTAACCTAGATTAAAAGTCTCCTTGAAATGTATAATTGTAATTAATTATTGGTTCATTTGTTTGTCTCACCCCCACCCCCAGAATGTTACTTAATGGTATGGAGGGATTACCTTTATCTTTGTATCATCAGAGATCAATAAATGCATGCTGAATAAATAAGTGTGAAATAAATTATATTGCAAAAAGATATCTATGTTTAAAAATTCACCTGAACTAGAAATTTGTCCACAACTGCTTGGATATTCACATAGAGGGAACAAAAGATTATCTCCAGATGATAAAAAAATAAAGCATGAGTCCCACAGATCATAATTCTGATCAGTGACTAAAATTAAACTCCAGCATTGAATGGATCTGTAGTCCTAGATTTGGTCAATTCATGCTAAAAATTCCAATAAAATTAGCATGTCCTTATTCAAATTCCATCCTAAAGGATGGAAGGAGTAGCAGAGTTAACAGAATGATTTCTTAAGATCATCTTGCTTTCTTTCAAGTGAGCTGAAACCCTAATCTGCCTGGTCCCTGAATCCTGTTCTTCAACAAAGAGTAATCAGATAAACAGCCCAGTCTGAAAACCAGAGCATTCACTAAATGCACACTCGGGCTGACGGTGACATTGGAATAGAGGCCTGCTGACTCTCCCAAGGACAGACGCTTCTCCCTGTCTTCTGCAGGAGAACAAACAGAGTTCTGTTAGATCTAGAGATGGTAAAACTAAAAAAATATGTATCAGGGGAAAAAAATGTAGTGGTGGGGCAGAGGGGACAGGAGAGGCATCTTGAGTTTTGTTTTTCCTGACCCTGACAGGGAACAGCAGGGTCATTTATCCTGGATATTTGCAGACCTTCACAGTTCTAACGCAAACATGAAGATTTTATGAGCAAACCAAGTTCCATATAATGCAGCTCTATATTCCTAAACCAATAGAGTGTGTTTAGGTTGGTCGCACACACGCGCGCATGCACACGTGCACACACACACACGCATTGGATATATTTAAGTTTTTCATTAAATTTCCACCAAAAAAGAATAATACTCTTTTCTCTGGGTACACAATGTCTGAATATAACATCCTTTCTAGTTGGAAGCAAAGACTGACCAACTTACCACAGAAGGTTTCCTGGAATCTAGAGGAAAGTTTCTCAATGACCCCATAGGTCTCCACGTAGAAAACATGCTCCTCTAGGGGCTCACTGGCCATCATCTTGAGGGACGCCATGTCTGCCCGGTCCACGCCCACAGCATAGAGCTCAATACCAGATGCTTGGGCCCGAGCCGCCACCTCATTCACCTGGTCCTGGGGCCTCCCATCTGTAACAATGATGGCCACCTTAGGGATGTTAGAAGAGGGCTCTCGAGCCCCTGCCTCCACTGTGAAGGCTTCGTCCATTGCTGTCTGGATGGCTAGGCCTGACATGGTGCCTGTTGACAAGGGTGTGATTCGACCCACGGCCTGCTTCAGGGACTGCTTATCTGTGTAGGCCTGGAGTTGGAACTCGATCTTCACAGTGCTAGCATAGTTCACCACTGCCACCCGCGTGTCGGCTGGCCCAATGTCCAGAGTGTCGATTATCCGGGAGACAAAAGTTTTCACTTTGGTGAATTCCAGGGGCCGTACGCTACGAGAACTATCAATGATAAACACCAGGTCCAAGGGTCTGCTCTTGCAAACACCTGCAAAAGACCAAGCAATGATCAGACCACAATTAGAAATGCAGTAATCCTCACTTCCAGAGAACTCTGGGATTCCAGGAGGCCAGGCAAGGCAGCATCTCCTGACCCCAACATCACCACTGCCTGCGACCTTCCCCAAGACCATCGGGGTGTTGAAAGCACCAAGGACTTCAGAATTCCCTAGTGAGAATTCACCTGGAGGTGTGAAGTTTCCCCAAATACCTCACCTGCAGGCTGGCTGAATCCTGAAATTTCACTTAGAACCTCATCCCTCTGCTTAAGCTTTTGCTCCCAAGGGCCCTCATGATTCCTGGGAATTAATAGATTCTACACATTTCTTAAGTACCTTGGCTATCTGGAGCAATTGGACAATGTGTCCCTGAACCATGTAAAAGGCCTTGGGCCCTCAGGGACAGCCTCACTGCCAACCACTGTGCCCAAGCCTCAGGCAATGGTAGTCTGAGGCAAGGCACTCAGGGGCTCTTCTGGTGGCCCCCCTCTTTTACTCCACTTCCAAGGGGCTGAAAACTGCTCCAGAGTATCCCTGAATTCTCCCTCCATCTGGCCATCTTTCCTGTTTAGTGAATTTGGGGGCTCACTGGAGCCCTGAACTAATTTAAAGTAGAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAAATCAAGAGGTCAGGAGATCAAGACCATCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCCTGTATTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGACAGAGCTTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAACAAAACAAAAAAAAAAGTAAGTAGAAAGAGGGGCCCGGGCGCGGTGGCTCACGCCTGGTAATCCCAACACTGTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACTTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCGGGTCGTAGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCCTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAGACATCATCTCAAAAAAAAAGTAGAATGAGGGATGCCAACTTAATCTTGTATCTGTTTAGTGAGCTTCCAGCTTCATGAGCATGTCTCGTAAGAAGCAGGGATTGTGATCTGGTATCTACCCTACTGCCCCAACTAACTCTCTTGGTCATCTCTCTTTTGACTTATTCATTCACCAAAAACATTTTTTGAGGGCCTACATGTATGAAGCCCTGGAGCTACAAAAGCATATAAACCAGATAGCCAGATTTCCCACCTTCAAAGAATTTATCTCTTTTCTACACAAAAGTACCTAACAGTTTAGTATCACAGTACATTTTAGTGTTCATCTATTCTTTCCTGTTCTTTCCTGTTTCCCCCAACCCCTGTTTGCACACCCTCTCTCCTCGATACAAAAATCAAATCCACAAGTCAGGATGAGACAAGAAAAAAAGCCAATTATTAAACTTCTTTTTCTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCAATCTTGGCTCACTGCAACCACCACCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACACCCAGCTAATTTTTGTATTTTTCATAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGGCTCAAACTCCCAACCTCAGG
GGCAGGTAACCCAACCTCCACTGCCCTTGGCAACAGGACAAGGCTAATATTTTCCCAAGAAGGGCCTTTTCATGGAATGATCTTTCCAACCCGTTGACTACAACAAGCTGCCGCTCAGTCTTTTTTCCATAGAGAGGACGTTTTTCCCCCAGAACAAGCAGGTCTTTTGTACCAGAAGGAAAAGATTGCCACTCACCACTTGTTACTTTATAGCCTTCGAAGCCCAACCCCAGGTGCTAGCTTTGAAACCCAACTTTGCCACAGACCAGCATGTTGATGGAGAGGCTCTCACCCACAAGCATGGAGTGGGAGGGTGATTTCCTGGGAGAAAGAAAGCCACTTTCTTTTTGGAAGCCAACGAATGCCAAGTAGATGCCACCAAAGCCAGTGATGGCTTGTGAAAGCCCAGTGTCCTGGGACAGGAAAGACAAGGGGATCCCAGCCAAGTCTGACTGCAATGAGGCCAAACGTTGCCCCAGAGCAAGACTTCATCTCCCTTTTCCTGACAAACCATTGATGGCTGCGTTTCACATTAACCTAGATTAAAAGTCTCCTTGAAATGTATAATTGTAATTAATTATTGGTTCATTTGTTTGTCTCACCCCCACCCCCAGAATGTTACTTAATGGTATGGAGGGATTACCTTTATCTTTGTATCATCAGAGATCAATAAATGCATGCTGAATAAATAAGTGTGAAATAAATTATATTGCAAAAAGATATCTATGTTTAAAAATTCACCTGAACTAGAAATTTGTCCACAACTGCTTGGATATTCACATAGAGGGAACAAAAGATTATCTCCAGATGATAAAAAAATAAAGCATGAGTCCCACAGATCATAATTCTGATCAGTGACTAAAATTAAACTCCAGCATTGAATGGATCTGTAGTCCTAGATTTGGTCAATTCATGCTAAAAATTCCAATAAAATTAGCATGTCCTTATTCAAATTCCATCCTAAAGGATGGAAGGAGTAGCAGAGTTAACAGAATGATTTCTTAAGATCATCTTGCTTTCTTTCAAGTGAGCTGAAACCCTAATCTGCCTGGTCCCTGAATCCTGTTCTTCAACAAAGAGTAATCAGATAAACAGCCCAGTCTGAAAACCAGAGCATTCACTAAATGCACACTCGGGCTGACGGTGACATTGGAATAGAGGCCTGCTGACTCTCCCAAGGACAGACGCTTCTCCCTGTCTTCTGCAGGAGAACAAACAGAGTTCTGTTAGATCTAGAGATGGTAAAACTAAAAAAATATGTATCAGGGGAAAAAAATGTAGTGGTGGGGCAGAGGGGACAGGAGAGGCATCTTGAGTTTTGTTTTTCCTGACCCTGACAGGGAACAGCAGGGTCATTTATCCTGGATATTTGCAGACCTTCACAGTTCTAACGCAAACATGAAGATTTTATGAGCAAACCAAGTTCCATATAATGCAGCTCTATATTCCTAAACCAATAGAGTGTGTTTAGGTTGGTCGCACACACGCGCGCATGCACACGTGCACACACACACACGCATTGGATATATTTAAGTTTTTCATTAAATTTCCACCAAAAAAGAATAATACTCTTTTCTCTGGGTACACAATGTCTGAATATAACATCCTTTCTAGTTGGAAGCAAAGACTGACCAACTTACCACAGAAGGTTTCCTGGAATCTAGAGGAAAGTTTCTCAATGACCCCATAGGTCTCCACGTAGAAAACATGCTCCTCTAGGGGCTCACTGGCCATCATCTTGAGGGACGCCATGTCTGCCCGGTCCACGCCCACAGCATAGAGCTCAATACCAGATGCTTGGGCCCGAGCCGCCACCTCATTCACCTGGTCCTGGGGCCTCCCATCTGTAACAATGATGGCCACCTTAGGGATGTTAGAAGAGGGCTCTCGAGCCCCTGCCTCCACTGTGAAGGCTTCGTCCATTGCTGTCTGGATGGCTAGGCCTGACATGGTGCCTGTTGACAAGGGTGTGATTCGACCCACGGCCTGCTTCAGGGACTGCTTATCTGTGTAGGCCTGGAGTTGGAACTCGATCTTCACAGTGCTAGGATAGTTCACCACTGCCACCCGCGTGTCGGCTGGCCCAATGTCCAGAGTGTCGATTATCCGGGAGACAAAAGTTTTCACTTTGGTGAATTCCAGGGGCCGTACGCTACGAGAACTATCAATGATAAACACCAGGTCCAAGGGTCTGCTCTTGCAAACACCTGCAAAAGACCAAGCAATGATCAGACCACAATTAGAAATGCAGTAATCCTCACTTCCAGAGAACTCTGGGATTCCAGGAGGCCAGGCAAGGCAGCATCTCCTGACCCCAACATCACCACTGCCTGCGACCTTCCCCAAGACCATCGGGGTGTTGAAAGCACCAAGGACTTCAGAATTCCCTAGTGAGAATTCACCTGGAGGTGTGAAGTTTCCCCAAATACCTCACCTGCAGGCTGGCTGAATCCTGAAATTTCACTTAGAACCTCATCCCTCTGCTTAAGCTTTTGCTCCCAAGGGCCCTCATGATTCCTGGGAATTAATAGATTCTACACATTTCTTAAGTACCTTGGCTATCTGGAGCAATTGGACAATGTGTCCCTGAACCATGTAAAAGGCCTTGGGCCCTCAGGGACAGCCTCACTGCCAACCACTGTGCCCAAGCCTCAGGCAATGGTAGTCTGAGGCAAGGCACTCAGGGGCTCTTCTGGTGGCCCCCCTCTTTTACTCCACTTCCAAGGGGCTGAAAACTGCTCCAGAGTATCCCTGAATTCTCCCTCCATCTGGCCATCTTTCCTGTTTAGTGAATTTGGGGGCTCACTGGAGCCCTGAACTAATTTAAAGTAGAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAAATCAAGAGGTCAGGAGATCAAGACCATCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCCTGTATTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGACAGAGCTTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAACAAAACAAAAAAAAAAGTAAGTAGAAAGAGGGGCCCGGGCGCGGTGGCTCACGCCTGGTAATCCCAACACTGTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACTTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCGGGTCGTAGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCCTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAGACATCATCTCAAAAAAAAAGTAGAATGAGGGATGCCAACTTAATCTTGTATCTGTTTAGTGAGCTTCCAGCTTCATGAGCATGTCTCGTAAGAAGCAGGGATTGTGATCTGGTATCTACCCTACTGCCCCAACTAACTCTCTTGGTCATCTCTCTTTTGACTTATTCATTCACCAAAAACATTTTTTGAGGGCCTACATGTATGAAGCCCTGGAGCTACAAAAGCATATAAACCAGATAGCCAGATTTCCCACCTTCAAAGAATTTATCTCTTTTCTACACAAAAGTACCTAACAGTTTAGTATCACAGTACATTTTAGTGTTCATCTATTCTTTCCTGTTCTTTCCTGTTTCCCCCAACCCCTGTTTGCACACCCTCTCTCCTCGATACAAAAATCAAATCCACAAGTCAGGATGAGACAAGAAAAAAAGCCAATTATTAAACTTCTTTTTCTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCAATCTTGGCTCACTGCAACCACCACCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACACCCAGCTAATTTTTGTATTTTTCATAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGGCTCAAACTCCCAACCTCAGG
Task1_train_3137
Located on Chromosome 2, this mutation impacts APOB (apolipoprotein B). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Hypercholesterolemia, familial, 1
CTTTCTAGAGCTCAGCTTGGAGGCTCTGACTGGATATTGCCAGTGTTTAAAATCAGAGTTTGAAGTGAGTGGATGTGGCAGGAGAAACCCTTGGGTTTTTACTACACTTGGGATTGTTGGATATTATATTTGGAAAAATAAGGATGCTTAAGAGCCTAAAGAGCATACATGTATGCTGGGTCACAGAATTGTTAGGAATCTACATCTCCACCCCTCCTCTCCCAATCATACTTTCTTGGCCTTGAATGGATCCTGGCAGAGCTCCAGGGAGACATCTGGGGTCCGTATTGCCATGAAGCCCCTGGGGCTAGGACTCCCTAGCCATTCCTTCTCCACTCCTGGCAGGCTGAGTGAAATAAAGGACTTGTTATTTCATCTCGAGGCCTACCGGAGAGCCTTGCCTTGCAAAGGCAGACAGTCAGTGAGGAAGACTATGTGGCACATGAAGACACCAGAGGTGTTCCTCAGGATCAAAGTATGTACAAGCCTTTGTGAATATTTTTTCCTTCTCACTTGGCAAATACAATTCCTGAGATCAATAACCTCGTCTTTTTAATTTTTTCCTCGTCTTTTTAACTATTTATAAAATATTGAATTATAAAATATGTAATTATAAATACTTTAATTATAAAATATGTAATTATAAATACTTTAATTATAAAATATGTAATTATAAATACTTTATAAAATATGTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATTTAATTATAAACATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATACTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAAAACACAATTACCTCATCTTTTTAAATATTTTTGCAAAATATTTCCCTCCATAATTTCTCCGTTTCCATTTTTATTCTGTTACTTAAATCACACTATGTGTTCTAGAGGTTTTGCTGTGCCAGAACATTTTATCAATGCCCTCGTTTCACTGTCTTTCAATACAAATGAGCCACATTCAGTGGTATGATACACAATAAAGACTCCATTTATTTGTTCCTCCTCCCCCAAGTTTAGCAAAATAACTCAGATCCTGATTTTCTTTAACTTGCAAAAAATGCCATCCTTCTGAGTTCAGAGACCTTCCGAGCCCTGGTGCCAGCTTTGGTGCAGGTCCAGTTCATATGTGCTTCTGCTTATAGTCTACTGCCTACTGCAAGGCTGGCTCACTGTATGGTTTTATCAATATAGGCAGTTTGAATTTTTTCTGTGCTATGTGAAAGTTCAATTGGAAAAGAAGAATAAATGAAGATTTCTTTTAAAAAATTAGAGGATGATAGTAAGTTCTCCTGGAGCAAGCTTCATGTAGGGGTTCATGACTGTGGTTGATTGCAGCTTTTTCAGTAACTCCGTGATGTATATCAGAAATGTGTGGTAGTTTTGAATGGACAGGTCAATCAATCTTTTGGATTCAGCAATAAATTTTTCATAGTAATCAGAGAGTTGGTCTGAAAAATCTTGCAGTTTATATCTAAACTGCTGGTGGTAATCAGAAATTATTTTCTTCGTCGCAATGGCCTGGCTTTTAATTATTTCCTGAGCAGTGGCAGAAAGCTCTGCAATCTTCTCTTTCCCTTTTCCATCTGGATCGGTAAGGATGCTAAGATATTCCTGAATATTTCTGTGCAGAAATTGCTCAACTTGACTTGAGAGTTGGGAAGTAAAGTTAGAGGCACTGACAATATATTCAGAATGGAAGTCCTTAAGAGCAACTAACAGGTTCTTGATCAGACTGACTATCTTTTCTTCAAGTTCATAATATTTCACTGTCCAGCCAACTATACTTGGATCAAAATATTCTTCACGAAGGGCCATAATGTATTGATGGATCTGCTGTAACTCTTGAGAAGCTTCCTGAAGCTCGTTTTGAATAAATTCATTGAACTTATGAAGATTAAGGCATAGGTTTTCTTTCAACAATTTAAAAACATATGGGATATAATCACTGAAGATTGTGTTGATCTCATCTTGGATATAATTAATAAGATAAGTAAATTTCATCTCTTTCAGCTGTTTAATGTTATCTTCTATTAGTTGGAAAATGAATTGTAAAAGGTCCTGAAGATTACGTAGCACCTCTGTGGTCTTGAGAGACTGAATGGCTTTAAATACCTCTTGGGCTTCTTTTGATAAATCTTTCAACAGTTCCCTATACATCGAGATTACATCTATTAGTTTATGTTTCCTTAACTCGAAAGGAAGTGTAATCACTAGGTCTTGGAAATAGGAAAACAGTATTTCTGAACCATTATGGACTTTCGAATATACCTGGGACAGTACCGTCCCTACCTCCCTTATGAACATAGTGCAAAGTTCCTCCCTAGTGTATATCCCAGGTTTCCCCGGAAACTGGAATCTGGGGAAGTTCAGAAAATCAATGAGTGAGTCAATCAGATGCTTGACTTTCATATGGAATTCTTGAGTAACTCGTACCAAGCCATCAAACACGTTATCCTTGAGTCCCTGGAAACTGGCTTGGCCTTCCTGAGTCAACAGTTCCTGGTACAGATTCTGGGCCTTGTCCTTCCACTCTTGGTAGGTCCCAGTGGTGCCACTGGCTGCTTTCTGGAACCTCACGTCGATATCATCAATTTGCCTAATGGCCCCTTGATAAACCCACTCAGCATTGTTCTGCAGATTTCTTCTCAGCTTTGAAGACACTTCTCTCAGGGTGAGCCCTGTGTGTTCCCAGTGGTACTTGTTGACATAATCATAAAGGACCCCTGTGGCCTTGGGCACGTTGTCTTTCAGAGAGGTTAGCAAGCCAGAAGCTGCCTCTTCTTCCCAATTAACTTTGATCTGAGTTTCCTCATCAGATTCCCGGACCCTCAACTCAGTTTTGAATATGGTGAGTTTTTTATCTGGAGAGGACTAAACAGAGAGAAAAAAAAAAATAACATGTTTTCAATTACTCCAATTACACAATATAGTACACTAAAACTTCATTAGCAGTTAAAAATAAAGATCAGAGAATCTTTCATATACTGAAAGGGATTTATCTTTCATATGTCAGTTCATGTGTTTGTTTTATGGTTAAATAAGTCTACTGTTGTTAATTTCTCTTTATCACATGCCCCAGAAAGGATTTAACAAAAACGCTTGCTGTTTGTCATTTACATTGTGACACTTAAAATTAAAGCCTTCCTAGGACTGAAAACTGGAAGAGGAGTGGGGGGAAGAGAAAGAAGAGGAGAGAGAAGAAGAGTCAGGAAATGACAGATAGGAAAAGAAGAAATAGCAAAAAAGGCAAGTTGGAGCCCACCCTGCAGAGACCCAGAATCCCAACATCAGTACGCATTCTCCAAGCCCATGACAAACTTTTAGTAACAGTCATAGAACCATGTTTGGTCTTCTCCTCTGGTAATGTCACCCTTGATTTGGCCCTGGCAGAGCTTGTAAATGACATGAGAGGAATTTGATGTATCTCATCTAGCAATTCTATTGTGGGGAAGAATTTTAAAGTTTTAAATACTACAGAAACCAGTCCTCTCTGAAAAATATACCCTGCCTATGGCTGAGCTTGCCTATGATTTAGATGATGAGGTATAACCCTCATCTTCCTGGATTTGCCCAGAATTAATAAATAATAGTGCTGATGGGATGTCATGTGTGCATCTAAACATTAAAATCAATCAAGGACTCATTGTAATACTTTCTAGAGAATATTTCCTCAGAGAAGAAGTTGCTTACCGCCTGTCTTTCACCTAGTTTGGGGAATCTCTGAATATTTGGTCCTGAATTAAATGTATCTGCCCCAATTCTCCACTCGCTCTTGGGGGCGTGTCA
CTTTCTAGAGCTCAGCTTGGAGGCTCTGACTGGATATTGCCAGTGTTTAAAATCAGAGTTTGAAGTGAGTGGATGTGGCAGGAGAAACCCTTGGGTTTTTACTACACTTGGGATTGTTGGATATTATATTTGGAAAAATAAGGATGCTTAAGAGCCTAAAGAGCATACATGTATGCTGGGTCACAGAATTGTTAGGAATCTACATCTCCACCCCTCCTCTCCCAATCATACTTTCTTGGCCTTGAATGGATCCTGGCAGAGCTCCAGGGAGACATCTGGGGTCCGTATTGCCATGAAGCCCCTGGGGCTAGGACTCCCTAGCCATTCCTTCTCCACTCCTGGCAGGCTGAGTGAAATAAAGGACTTGTTATTTCATCTCGAGGCCTACCGGAGAGCCTTGCCTTGCAAAGGCAGACAGTCAGTGAGGAAGACTATGTGGCACATGAAGACACCAGAGGTGTTCCTCAGGATCAAAGTATGTACAAGCCTTTGTGAATATTTTTTCCTTCTCACTTGGCAAATACAATTCCTGAGATCAATAACCTCGTCTTTTTAATTTTTTCCTCGTCTTTTTAACTATTTATAAAATATTGAATTATAAAATATGTAATTATAAATACTTTAATTATAAAATATGTAATTATAAATACTTTAATTATAAAATATGTAATTATAAATACTTTATAAAATATGTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATTTAATTATAAACATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATACTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAAAACACAATTACCTCATCTTTTTAAATATTTTTGCAAAATATTTCCCTCCATAATTTCTCCGTTTCCATTTTTATTCTGTTACTTAAATCACACTATGTGTTCTAGAGGTTTTGCTGTGCCAGAACATTTTATCAATGCCCTCGTTTCACTGTCTTTCAATACAAATGAGCCACATTCAGTGGTATGATACACAATAAAGACTCCATTTATTTGTTCCTCCTCCCCCAAGTTTAGCAAAATAACTCAGATCCTGATTTTCTTTAACTTGCAAAAAATGCCATCCTTCTGAGTTCAGAGACCTTCCGAGCCCTGGTGCCAGCTTTGGTGCAGGTCCAGTTCATATGTGCTTCTGCTTATAGTCTACTGCCTACTGCAAGGCTGGCTCACTGTATGGTTTTATCAATATAGGCAGTTTGAATTTTTTCTGTGCTATGTGAAAGTTCAATTGGAAAAGAAGAATAAATGAAGATTTCTTTTAAAAAATTAGAGGATGATAGTAAGTTCTCCTGGAGCAAGCTTCATGTAGGGGTTCATGACTGTGGTTGATTGCAGCTTTTTCAGTAACTCCGTGATGTATATCAGAAATGTGTGGTAGTTTTGAATGGACAGGTCAATCAATCTTTTGGATTCAGCAATAAATTTTTCATAGTAATCAGAGAGTTGGTCTGAAAAATCTTGCAGTTTATATCTAAACTGCTGGTGGTAATCAGAAATTATTTTCTTCGTCGCAATGGCCTGGCTTTTAATTATTTCCTGAGCAGTGGCAGAAAGCTCTGCAATCTTCTCTTTCCCTTTTCCATCTGGATCGGTAAGGATGCTAAGATATTCCTGAATATTTCTGTGCAGAAATTGCTCAACTTGACTTGAGAGTTGGGAAGTAAAGTTAGAGGCACTGACAATATATTCAGAATGGAAGTCCTTAAGAGCAACTAACAGGTTCTTGATCAGACTGACTGTCTTTTCTTCAAGTTCATAATATTTCACTGTCCAGCCAACTATACTTGGATCAAAATATTCTTCACGAAGGGCCATAATGTATTGATGGATCTGCTGTAACTCTTGAGAAGCTTCCTGAAGCTCGTTTTGAATAAATTCATTGAACTTATGAAGATTAAGGCATAGGTTTTCTTTCAACAATTTAAAAACATATGGGATATAATCACTGAAGATTGTGTTGATCTCATCTTGGATATAATTAATAAGATAAGTAAATTTCATCTCTTTCAGCTGTTTAATGTTATCTTCTATTAGTTGGAAAATGAATTGTAAAAGGTCCTGAAGATTACGTAGCACCTCTGTGGTCTTGAGAGACTGAATGGCTTTAAATACCTCTTGGGCTTCTTTTGATAAATCTTTCAACAGTTCCCTATACATCGAGATTACATCTATTAGTTTATGTTTCCTTAACTCGAAAGGAAGTGTAATCACTAGGTCTTGGAAATAGGAAAACAGTATTTCTGAACCATTATGGACTTTCGAATATACCTGGGACAGTACCGTCCCTACCTCCCTTATGAACATAGTGCAAAGTTCCTCCCTAGTGTATATCCCAGGTTTCCCCGGAAACTGGAATCTGGGGAAGTTCAGAAAATCAATGAGTGAGTCAATCAGATGCTTGACTTTCATATGGAATTCTTGAGTAACTCGTACCAAGCCATCAAACACGTTATCCTTGAGTCCCTGGAAACTGGCTTGGCCTTCCTGAGTCAACAGTTCCTGGTACAGATTCTGGGCCTTGTCCTTCCACTCTTGGTAGGTCCCAGTGGTGCCACTGGCTGCTTTCTGGAACCTCACGTCGATATCATCAATTTGCCTAATGGCCCCTTGATAAACCCACTCAGCATTGTTCTGCAGATTTCTTCTCAGCTTTGAAGACACTTCTCTCAGGGTGAGCCCTGTGTGTTCCCAGTGGTACTTGTTGACATAATCATAAAGGACCCCTGTGGCCTTGGGCACGTTGTCTTTCAGAGAGGTTAGCAAGCCAGAAGCTGCCTCTTCTTCCCAATTAACTTTGATCTGAGTTTCCTCATCAGATTCCCGGACCCTCAACTCAGTTTTGAATATGGTGAGTTTTTTATCTGGAGAGGACTAAACAGAGAGAAAAAAAAAAATAACATGTTTTCAATTACTCCAATTACACAATATAGTACACTAAAACTTCATTAGCAGTTAAAAATAAAGATCAGAGAATCTTTCATATACTGAAAGGGATTTATCTTTCATATGTCAGTTCATGTGTTTGTTTTATGGTTAAATAAGTCTACTGTTGTTAATTTCTCTTTATCACATGCCCCAGAAAGGATTTAACAAAAACGCTTGCTGTTTGTCATTTACATTGTGACACTTAAAATTAAAGCCTTCCTAGGACTGAAAACTGGAAGAGGAGTGGGGGGAAGAGAAAGAAGAGGAGAGAGAAGAAGAGTCAGGAAATGACAGATAGGAAAAGAAGAAATAGCAAAAAAGGCAAGTTGGAGCCCACCCTGCAGAGACCCAGAATCCCAACATCAGTACGCATTCTCCAAGCCCATGACAAACTTTTAGTAACAGTCATAGAACCATGTTTGGTCTTCTCCTCTGGTAATGTCACCCTTGATTTGGCCCTGGCAGAGCTTGTAAATGACATGAGAGGAATTTGATGTATCTCATCTAGCAATTCTATTGTGGGGAAGAATTTTAAAGTTTTAAATACTACAGAAACCAGTCCTCTCTGAAAAATATACCCTGCCTATGGCTGAGCTTGCCTATGATTTAGATGATGAGGTATAACCCTCATCTTCCTGGATTTGCCCAGAATTAATAAATAATAGTGCTGATGGGATGTCATGTGTGCATCTAAACATTAAAATCAATCAAGGACTCATTGTAATACTTTCTAGAGAATATTTCCTCAGAGAAGAAGTTGCTTACCGCCTGTCTTTCACCTAGTTTGGGGAATCTCTGAATATTTGGTCCTGAATTAAATGTATCTGCCCCAATTCTCCACTCGCTCTTGGGGGCGTGTCA
Task1_train_3138
A mutation in APOB (apolipoprotein B), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Cardiovascular phenotype
TGGATGTGGCAGGAGAAACCCTTGGGTTTTTACTACACTTGGGATTGTTGGATATTATATTTGGAAAAATAAGGATGCTTAAGAGCCTAAAGAGCATACATGTATGCTGGGTCACAGAATTGTTAGGAATCTACATCTCCACCCCTCCTCTCCCAATCATACTTTCTTGGCCTTGAATGGATCCTGGCAGAGCTCCAGGGAGACATCTGGGGTCCGTATTGCCATGAAGCCCCTGGGGCTAGGACTCCCTAGCCATTCCTTCTCCACTCCTGGCAGGCTGAGTGAAATAAAGGACTTGTTATTTCATCTCGAGGCCTACCGGAGAGCCTTGCCTTGCAAAGGCAGACAGTCAGTGAGGAAGACTATGTGGCACATGAAGACACCAGAGGTGTTCCTCAGGATCAAAGTATGTACAAGCCTTTGTGAATATTTTTTCCTTCTCACTTGGCAAATACAATTCCTGAGATCAATAACCTCGTCTTTTTAATTTTTTCCTCGTCTTTTTAACTATTTATAAAATATTGAATTATAAAATATGTAATTATAAATACTTTAATTATAAAATATGTAATTATAAATACTTTAATTATAAAATATGTAATTATAAATACTTTATAAAATATGTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATTTAATTATAAACATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATACTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAAAACACAATTACCTCATCTTTTTAAATATTTTTGCAAAATATTTCCCTCCATAATTTCTCCGTTTCCATTTTTATTCTGTTACTTAAATCACACTATGTGTTCTAGAGGTTTTGCTGTGCCAGAACATTTTATCAATGCCCTCGTTTCACTGTCTTTCAATACAAATGAGCCACATTCAGTGGTATGATACACAATAAAGACTCCATTTATTTGTTCCTCCTCCCCCAAGTTTAGCAAAATAACTCAGATCCTGATTTTCTTTAACTTGCAAAAAATGCCATCCTTCTGAGTTCAGAGACCTTCCGAGCCCTGGTGCCAGCTTTGGTGCAGGTCCAGTTCATATGTGCTTCTGCTTATAGTCTACTGCCTACTGCAAGGCTGGCTCACTGTATGGTTTTATCAATATAGGCAGTTTGAATTTTTTCTGTGCTATGTGAAAGTTCAATTGGAAAAGAAGAATAAATGAAGATTTCTTTTAAAAAATTAGAGGATGATAGTAAGTTCTCCTGGAGCAAGCTTCATGTAGGGGTTCATGACTGTGGTTGATTGCAGCTTTTTCAGTAACTCCGTGATGTATATCAGAAATGTGTGGTAGTTTTGAATGGACAGGTCAATCAATCTTTTGGATTCAGCAATAAATTTTTCATAGTAATCAGAGAGTTGGTCTGAAAAATCTTGCAGTTTATATCTAAACTGCTGGTGGTAATCAGAAATTATTTTCTTCGTCGCAATGGCCTGGCTTTTAATTATTTCCTGAGCAGTGGCAGAAAGCTCTGCAATCTTCTCTTTCCCTTTTCCATCTGGATCGGTAAGGATGCTAAGATATTCCTGAATATTTCTGTGCAGAAATTGCTCAACTTGACTTGAGAGTTGGGAAGTAAAGTTAGAGGCACTGACAATATATTCAGAATGGAAGTCCTTAAGAGCAACTAACAGGTTCTTGATCAGACTGACTATCTTTTCTTCAAGTTCATAATATTTCACTGTCCAGCCAACTATACTTGGATCAAAATATTCTTCACGAAGGGCCATAATGTATTGATGGATCTGCTGTAACTCTTGAGAAGCTTCCTGAAGCTCGTTTTGAATAAATTCATTGAACTTATGAAGATTAAGGCATAGGTTTTCTTTCAACAATTTAAAAACATATGGGATATAATCACTGAAGATTGTGTTGATCTCATCTTGGATATAATTAATAAGATAAGTAAATTTCATCTCTTTCAGCTGTTTAATGTTATCTTCTATTAGTTGGAAAATGAATTGTAAAAGGTCCTGAAGATTACGTAGCACCTCTGTGGTCTTGAGAGACTGAATGGCTTTAAATACCTCTTGGGCTTCTTTTGATAAATCTTTCAACAGTTCCCTATACATCGAGATTACATCTATTAGTTTATGTTTCCTTAACTCGAAAGGAAGTGTAATCACTAGGTCTTGGAAATAGGAAAACAGTATTTCTGAACCATTATGGACTTTCGAATATACCTGGGACAGTACCGTCCCTACCTCCCTTATGAACATAGTGCAAAGTTCCTCCCTAGTGTATATCCCAGGTTTCCCCGGAAACTGGAATCTGGGGAAGTTCAGAAAATCAATGAGTGAGTCAATCAGATGCTTGACTTTCATATGGAATTCTTGAGTAACTCGTACCAAGCCATCAAACACGTTATCCTTGAGTCCCTGGAAACTGGCTTGGCCTTCCTGAGTCAACAGTTCCTGGTACAGATTCTGGGCCTTGTCCTTCCACTCTTGGTAGGTCCCAGTGGTGCCACTGGCTGCTTTCTGGAACCTCACGTCGATATCATCAATTTGCCTAATGGCCCCTTGATAAACCCACTCAGCATTGTTCTGCAGATTTCTTCTCAGCTTTGAAGACACTTCTCTCAGGGTGAGCCCTGTGTGTTCCCAGTGGTACTTGTTGACATAATCATAAAGGACCCCTGTGGCCTTGGGCACGTTGTCTTTCAGAGAGGTTAGCAAGCCAGAAGCTGCCTCTTCTTCCCAATTAACTTTGATCTGAGTTTCCTCATCAGATTCCCGGACCCTCAACTCAGTTTTGAATATGGTGAGTTTTTTATCTGGAGAGGACTAAACAGAGAGAAAAAAAAAAATAACATGTTTTCAATTACTCCAATTACACAATATAGTACACTAAAACTTCATTAGCAGTTAAAAATAAAGATCAGAGAATCTTTCATATACTGAAAGGGATTTATCTTTCATATGTCAGTTCATGTGTTTGTTTTATGGTTAAATAAGTCTACTGTTGTTAATTTCTCTTTATCACATGCCCCAGAAAGGATTTAACAAAAACGCTTGCTGTTTGTCATTTACATTGTGACACTTAAAATTAAAGCCTTCCTAGGACTGAAAACTGGAAGAGGAGTGGGGGGAAGAGAAAGAAGAGGAGAGAGAAGAAGAGTCAGGAAATGACAGATAGGAAAAGAAGAAATAGCAAAAAAGGCAAGTTGGAGCCCACCCTGCAGAGACCCAGAATCCCAACATCAGTACGCATTCTCCAAGCCCATGACAAACTTTTAGTAACAGTCATAGAACCATGTTTGGTCTTCTCCTCTGGTAATGTCACCCTTGATTTGGCCCTGGCAGAGCTTGTAAATGACATGAGAGGAATTTGATGTATCTCATCTAGCAATTCTATTGTGGGGAAGAATTTTAAAGTTTTAAATACTACAGAAACCAGTCCTCTCTGAAAAATATACCCTGCCTATGGCTGAGCTTGCCTATGATTTAGATGATGAGGTATAACCCTCATCTTCCTGGATTTGCCCAGAATTAATAAATAATAGTGCTGATGGGATGTCATGTGTGCATCTAAACATTAAAATCAATCAAGGACTCATTGTAATACTTTCTAGAGAATATTTCCTCAGAGAAGAAGTTGCTTACCGCCTGTCTTTCACCTAGTTTGGGGAATCTCTGAATATTTGGTCCTGAATTAAATGTATCTGCCCCAATTCTCCACTCGCTCTTGGGGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCA
TGGATGTGGCAGGAGAAACCCTTGGGTTTTTACTACACTTGGGATTGTTGGATATTATATTTGGAAAAATAAGGATGCTTAAGAGCCTAAAGAGCATACATGTATGCTGGGTCACAGAATTGTTAGGAATCTACATCTCCACCCCTCCTCTCCCAATCATACTTTCTTGGCCTTGAATGGATCCTGGCAGAGCTCCAGGGAGACATCTGGGGTCCGTATTGCCATGAAGCCCCTGGGGCTAGGACTCCCTAGCCATTCCTTCTCCACTCCTGGCAGGCTGAGTGAAATAAAGGACTTGTTATTTCATCTCGAGGCCTACCGGAGAGCCTTGCCTTGCAAAGGCAGACAGTCAGTGAGGAAGACTATGTGGCACATGAAGACACCAGAGGTGTTCCTCAGGATCAAAGTATGTACAAGCCTTTGTGAATATTTTTTCCTTCTCACTTGGCAAATACAATTCCTGAGATCAATAACCTCGTCTTTTTAATTTTTTCCTCGTCTTTTTAACTATTTATAAAATATTGAATTATAAAATATGTAATTATAAATACTTTAATTATAAAATATGTAATTATAAATACTTTAATTATAAAATATGTAATTATAAATACTTTATAAAATATGTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATTTAATTATAAACATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATACTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAAAACACAATTACCTCATCTTTTTAAATATTTTTGCAAAATATTTCCCTCCATAATTTCTCCGTTTCCATTTTTATTCTGTTACTTAAATCACACTATGTGTTCTAGAGGTTTTGCTGTGCCAGAACATTTTATCAATGCCCTCGTTTCACTGTCTTTCAATACAAATGAGCCACATTCAGTGGTATGATACACAATAAAGACTCCATTTATTTGTTCCTCCTCCCCCAAGTTTAGCAAAATAACTCAGATCCTGATTTTCTTTAACTTGCAAAAAATGCCATCCTTCTGAGTTCAGAGACCTTCCGAGCCCTGGTGCCAGCTTTGGTGCAGGTCCAGTTCATATGTGCTTCTGCTTATAGTCTACTGCCTACTGCAAGGCTGGCTCACTGTATGGTTTTATCAATATAGGCAGTTTGAATTTTTTCTGTGCTATGTGAAAGTTCAATTGGAAAAGAAGAATAAATGAAGATTTCTTTTAAAAAATTAGAGGATGATAGTAAGTTCTCCTGGAGCAAGCTTCATGTAGGGGTTCATGACTGTGGTTGATTGCAGCTTTTTCAGTAACTCCGTGATGTATATCAGAAATGTGTGGTAGTTTTGAATGGACAGGTCAATCAATCTTTTGGATTCAGCAATAAATTTTTCATAGTAATCAGAGAGTTGGTCTGAAAAATCTTGCAGTTTATATCTAAACTGCTGGTGGTAATCAGAAATTATTTTCTTCGTCGCAATGGCCTGGCTTTTAATTATTTCCTGAGCAGTGGCAGAAAGCTCTGCAATCTTCTCTTTCCCTTTTCCATCTGGATCGGTAAGGATGCTAAGATATTCCTGAATATTTCTGTGCAGAAATTGCTCAACTTGACTTGAGAGTTGGGAAGTAAAGTTAGAGGCACTGACAATATATTCAGAATGGAAGTCCTTAAGAGCAACTAACAGGTTCTTGATCAGACTGACTATCTTTTCTTCAAGTTCATAATATTTCACTGTCCAGCCAACTATACTTGGATCAAAATATTCTTCACGAGGGGCCATAATGTATTGATGGATCTGCTGTAACTCTTGAGAAGCTTCCTGAAGCTCGTTTTGAATAAATTCATTGAACTTATGAAGATTAAGGCATAGGTTTTCTTTCAACAATTTAAAAACATATGGGATATAATCACTGAAGATTGTGTTGATCTCATCTTGGATATAATTAATAAGATAAGTAAATTTCATCTCTTTCAGCTGTTTAATGTTATCTTCTATTAGTTGGAAAATGAATTGTAAAAGGTCCTGAAGATTACGTAGCACCTCTGTGGTCTTGAGAGACTGAATGGCTTTAAATACCTCTTGGGCTTCTTTTGATAAATCTTTCAACAGTTCCCTATACATCGAGATTACATCTATTAGTTTATGTTTCCTTAACTCGAAAGGAAGTGTAATCACTAGGTCTTGGAAATAGGAAAACAGTATTTCTGAACCATTATGGACTTTCGAATATACCTGGGACAGTACCGTCCCTACCTCCCTTATGAACATAGTGCAAAGTTCCTCCCTAGTGTATATCCCAGGTTTCCCCGGAAACTGGAATCTGGGGAAGTTCAGAAAATCAATGAGTGAGTCAATCAGATGCTTGACTTTCATATGGAATTCTTGAGTAACTCGTACCAAGCCATCAAACACGTTATCCTTGAGTCCCTGGAAACTGGCTTGGCCTTCCTGAGTCAACAGTTCCTGGTACAGATTCTGGGCCTTGTCCTTCCACTCTTGGTAGGTCCCAGTGGTGCCACTGGCTGCTTTCTGGAACCTCACGTCGATATCATCAATTTGCCTAATGGCCCCTTGATAAACCCACTCAGCATTGTTCTGCAGATTTCTTCTCAGCTTTGAAGACACTTCTCTCAGGGTGAGCCCTGTGTGTTCCCAGTGGTACTTGTTGACATAATCATAAAGGACCCCTGTGGCCTTGGGCACGTTGTCTTTCAGAGAGGTTAGCAAGCCAGAAGCTGCCTCTTCTTCCCAATTAACTTTGATCTGAGTTTCCTCATCAGATTCCCGGACCCTCAACTCAGTTTTGAATATGGTGAGTTTTTTATCTGGAGAGGACTAAACAGAGAGAAAAAAAAAAATAACATGTTTTCAATTACTCCAATTACACAATATAGTACACTAAAACTTCATTAGCAGTTAAAAATAAAGATCAGAGAATCTTTCATATACTGAAAGGGATTTATCTTTCATATGTCAGTTCATGTGTTTGTTTTATGGTTAAATAAGTCTACTGTTGTTAATTTCTCTTTATCACATGCCCCAGAAAGGATTTAACAAAAACGCTTGCTGTTTGTCATTTACATTGTGACACTTAAAATTAAAGCCTTCCTAGGACTGAAAACTGGAAGAGGAGTGGGGGGAAGAGAAAGAAGAGGAGAGAGAAGAAGAGTCAGGAAATGACAGATAGGAAAAGAAGAAATAGCAAAAAAGGCAAGTTGGAGCCCACCCTGCAGAGACCCAGAATCCCAACATCAGTACGCATTCTCCAAGCCCATGACAAACTTTTAGTAACAGTCATAGAACCATGTTTGGTCTTCTCCTCTGGTAATGTCACCCTTGATTTGGCCCTGGCAGAGCTTGTAAATGACATGAGAGGAATTTGATGTATCTCATCTAGCAATTCTATTGTGGGGAAGAATTTTAAAGTTTTAAATACTACAGAAACCAGTCCTCTCTGAAAAATATACCCTGCCTATGGCTGAGCTTGCCTATGATTTAGATGATGAGGTATAACCCTCATCTTCCTGGATTTGCCCAGAATTAATAAATAATAGTGCTGATGGGATGTCATGTGTGCATCTAAACATTAAAATCAATCAAGGACTCATTGTAATACTTTCTAGAGAATATTTCCTCAGAGAAGAAGTTGCTTACCGCCTGTCTTTCACCTAGTTTGGGGAATCTCTGAATATTTGGTCCTGAATTAAATGTATCTGCCCCAATTCTCCACTCGCTCTTGGGGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCA
Task1_train_3139
A mutation on Chromosome 2 affecting APOB (apolipoprotein B) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Hypercholesterolemia, familial, 1
AGTGCTGATGGGATGTCATGTGTGCATCTAAACATTAAAATCAATCAAGGACTCATTGTAATACTTTCTAGAGAATATTTCCTCAGAGAAGAAGTTGCTTACCGCCTGTCTTTCACCTAGTTTGGGGAATCTCTGAATATTTGGTCCTGAATTAAATGTATCTGCCCCAATTCTCCACTCGCTCTTGGGGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCATATCCATGCCCACGGTGCCTACGGCTGGGGAGGCTGCTGAGGTGGAGATGCCTTTCTTGTCTTTCTGGTAGCGCAGATGGAGATCGGTGAACGCTGGGCTTTTGATATTGAGGTGCGCTTTTCCTTCCCATTCCCTGAAAGCAGAAAAACAGATGAGCTATCACGAAAGGGGTATGGAGATGAAGAAAATCACAATGAGTTTTCAAAAGGTATAAGGTTTCAATTCAATAAAAGCTCCATACTGAAGTCCTTCATATTTGCCATCTTCTTCATATTCTGCACTGAAGTCACGGTGTGCAAATGTTCCTTTAGTCTTAGAGGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAACTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTG
AGTGCTGATGGGATGTCATGTGTGCATCTAAACATTAAAATCAATCAAGGACTCATTGTAATACTTTCTAGAGAATATTTCCTCAGAGAAGAAGTTGCTTACCGCCTGTCTTTCACCTAGTTTGGGGAATCTCTGAATATTTGGTCCTGAATTAAATGTATCTGCCCCAATTCTCCACTCGCTCTTGGGGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCATATCCATGCCCACGGTGCCTACGGCTGGGGAGGCTGCTGAGGTGGAGATGCCTTTCTTGTCTTTCTGGTAGCGCAGATGGAGATCGGTGAACGCTGGGCTTTTGATATTGAGGTGCGCTTTTCCTTCCCATTCCCTGAAAGCAGAAAAACAGATGAGCTATCACGAAAGGGGTATGGAGATGAAGAAAATCACAATGAGTTTTCAAAAGGTATAAGGTTTCAATTCAATAAAAGCTCCATACTGAAGTCCTTCATATTTGCCATCTTCTTCATATTCTGCACTGAAGTCACGGTGTGCAAATGTTCCTTTAGTCTTAGAGGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTTCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAACTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTG
Task1_train_3140
The gene APOB (apolipoprotein B), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Familial hypobetalipoproteinemia 1
GGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCATATCCATGCCCACGGTGCCTACGGCTGGGGAGGCTGCTGAGGTGGAGATGCCTTTCTTGTCTTTCTGGTAGCGCAGATGGAGATCGGTGAACGCTGGGCTTTTGATATTGAGGTGCGCTTTTCCTTCCCATTCCCTGAAAGCAGAAAAACAGATGAGCTATCACGAAAGGGGTATGGAGATGAAGAAAATCACAATGAGTTTTCAAAAGGTATAAGGTTTCAATTCAATAAAAGCTCCATACTGAAGTCCTTCATATTTGCCATCTTCTTCATATTCTGCACTGAAGTCACGGTGTGCAAATGTTCCTTTAGTCTTAGAGGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAACTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAA
GGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCATATCCATGCCCACGGTGCCTACGGCTGGGGAGGCTGCTGAGGTGGAGATGCCTTTCTTGTCTTTCTGGTAGCGCAGATGGAGATCGGTGAACGCTGGGCTTTTGATATTGAGGTGCGCTTTTCCTTCCCATTCCCTGAAAGCAGAAAAACAGATGAGCTATCACGAAAGGGGTATGGAGATGAAGAAAATCACAATGAGTTTTCAAAAGGTATAAGGTTTCAATTCAATAAAAGCTCCATACTGAAGTCCTTCATATTTGCCATCTTCTTCATATTCTGCACTGAAGTCACGGTGTGCAAATGTTCCTTTAGTCTTAGAGGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACAGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAACTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAA
Task1_train_3141
Gene APOB (apolipoprotein B) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Hypercholesterolemia, autosomal dominant, type B
GGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCATATCCATGCCCACGGTGCCTACGGCTGGGGAGGCTGCTGAGGTGGAGATGCCTTTCTTGTCTTTCTGGTAGCGCAGATGGAGATCGGTGAACGCTGGGCTTTTGATATTGAGGTGCGCTTTTCCTTCCCATTCCCTGAAAGCAGAAAAACAGATGAGCTATCACGAAAGGGGTATGGAGATGAAGAAAATCACAATGAGTTTTCAAAAGGTATAAGGTTTCAATTCAATAAAAGCTCCATACTGAAGTCCTTCATATTTGCCATCTTCTTCATATTCTGCACTGAAGTCACGGTGTGCAAATGTTCCTTTAGTCTTAGAGGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAACTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAA
GGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTCCATTTAGAAAAGTCGTCATCTTCATCCATATCCATGCCCACGGTGCCTACGGCTGGGGAGGCTGCTGAGGTGGAGATGCCTTTCTTGTCTTTCTGGTAGCGCAGATGGAGATCGGTGAACGCTGGGCTTTTGATATTGAGGTGCGCTTTTCCTTCCCATTCCCTGAAAGCAGAAAAACAGATGAGCTATCACGAAAGGGGTATGGAGATGAAGAAAATCACAATGAGTTTTCAAAAGGTATAAGGTTTCAATTCAATAAAAGCTCCATACTGAAGTCCTTCATATTTGCCATCTTCTTCATATTCTGCACTGAAGTCACGGTGTGCAAATGTTCCTTTAGTCTTAGAGGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACAGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAACTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAA
Task1_train_3142
This alteration occurs within gene APOB (apolipoprotein B) located on Chromosome 2. Is it associated with a disease or is it a benign variant?
Pathogenic; Familial hypobetalipoproteinemia 1
GGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAACTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAACAGCATTTCACTCCCATGCTCCGTTCTCAGGTACTTGCTGGAGAACTTCACTGACTCCTTCAGAGCCAGCGGATTAATCTTAGGGTTTGAGAGTTGTGCATTTGCTTGAAAATCAAAATTGAGAACTTCTAATTTGGACTCTCCTTTGGCAGTGATGGAAGCTGCGATACCTGCTTCGTTTGCTGAGGTGGTTCCATTCCCTATGTCAGCATTTGCATCTAATGTGAAAAGAGGAGATTGGATTTTCAGAATACTGTATAGCTTGCCAAAAGTAGGTACTTCAATTGTGTGTGAGATGTGGGGAAGCTGGAATTCTGGTATGTGAAGGTCAGGAACTTGAAAATCATTAAGGTTGAGAGTTGGGATTATGAATTCTGGAATTGCGATTTCTGGTAAAC
GGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAAGTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAACAGCATTTCACTCCCATGCTCCGTTCTCAGGTACTTGCTGGAGAACTTCACTGACTCCTTCAGAGCCAGCGGATTAATCTTAGGGTTTGAGAGTTGTGCATTTGCTTGAAAATCAAAATTGAGAACTTCTAATTTGGACTCTCCTTTGGCAGTGATGGAAGCTGCGATACCTGCTTCGTTTGCTGAGGTGGTTCCATTCCCTATGTCAGCATTTGCATCTAATGTGAAAAGAGGAGATTGGATTTTCAGAATACTGTATAGCTTGCCAAAAGTAGGTACTTCAATTGTGTGTGAGATGTGGGGAAGCTGGAATTCTGGTATGTGAAGGTCAGGAACTTGAAAATCATTAAGGTTGAGAGTTGGGATTATGAATTCTGGAATTGCGATTTCTGGTAAAC
Task1_train_3143
A change on Chromosome 2 affects gene APOB (apolipoprotein B). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Hypercholesterolemia, autosomal dominant, type B
GGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAACTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAACAGCATTTCACTCCCATGCTCCGTTCTCAGGTACTTGCTGGAGAACTTCACTGACTCCTTCAGAGCCAGCGGATTAATCTTAGGGTTTGAGAGTTGTGCATTTGCTTGAAAATCAAAATTGAGAACTTCTAATTTGGACTCTCCTTTGGCAGTGATGGAAGCTGCGATACCTGCTTCGTTTGCTGAGGTGGTTCCATTCCCTATGTCAGCATTTGCATCTAATGTGAAAAGAGGAGATTGGATTTTCAGAATACTGTATAGCTTGCCAAAAGTAGGTACTTCAATTGTGTGTGAGATGTGGGGAAGCTGGAATTCTGGTATGTGAAGGTCAGGAACTTGAAAATCATTAAGGTTGAGAGTTGGGATTATGAATTCTGGAATTGCGATTTCTGGTAAAC
GGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGACACTAGATTTTCTACAGTTTGGTTTTTACGTGTAGGGTATACATGTATCTCTTTTCTTACTTAAAATTTTGTGACATTGAGTAATTGTACATCTACTCACAACTAAATACATAATTATTTACTCATAACTCTCATTGAAAATATACAGTATCTAGGAGAGGAGGCAGGATATTTCTTACCATTTAGTTCATATTCTAGGAACTGTACGGTTGAGCTGCATGTGGAATCCAGGACTGTTTCAACATAATCTGCTTTGTTTTTCAAACTGGCACTCCAAGTGGCATTATACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTCGGGGAGTGTTGGTAGGTTGAGGGCAAATGATGAAGTTCTCAGCTTCTTATAGATTTGTATTTCTCTGAAGTCAAGTTTGCACGATGGAACCTGAAGATCTGTAAATGGGACATGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCCAAGGTCAGGGAAATCATGGAAGGAACTGGGCTGACTTGCATGGACCTGAACAAGAGCTGACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAAAAGTAAGAGGTGAGGCTTTCCAAGCTAAGCTTGTGGTCAACTGCTCCTTTAGCGGTAGAGTACAGCATTGAAGAATTGAAATCATACTTAAATTCCATGGAGGAAGAGACAGTAGGTTTTGACTTGGTATTTCCATTAAGTTCTTGCTTGAAATTCATTCTCAAAATTGGAATTTGGGCTTTTGTGGTTGTTGCCACTGACACTTCCATATTTTTCGTGGTTAAGCTCACAGTACTGTTATGACTACCCTCCACAAATTTGTTGCTCAGAGACAGAGCTGTGGCTAAGTTCAATCCCCTTTTTCTTGTCAATCTTGTGGTGCCCTCTAATTTGTACTGCAGTGCATCAATGACAGATGAAGATGAAGAAAGGAGATGAGCAACAATATCTGACTGGTTAAAAAGTTCAGCATTGGTATTCAGTGTGATGACACTTGATTTAAAGGAGAAATCATAGGTAATATTGCCCATGGCAGGAATAAAAATATGGCTTATGGTACACAATTCCTTGAAATCTGGAAGAGAAAGCTTGAGATTTCTAGGGACATGAAGGACTGGCAGCTCTAATGATGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCACAAAGCACAGCCAAAGGATTTGTGATGGAATGCCTGTGTTTGTTTTTCTTATACTGAGCTTTTACACTTAAATCAAATGATTGCTTTGTCGTTTTCAAGAATTCCTTCAAGCCTGTTTTTTCCCATAGAGAGAAATCTTTCAGTGGAGGAGTTGTGATTATTGTGTAAGGTAGACGCATTTCAGGAATTGTTAAAGGAATGTTTAAGAAATCCAGATTTGCTTCTCCATTTATTCCTACATGGGCCTCCATAATGTTCTCGTTGTTTCCAGCAGAGAAATTTTGGTTGTACTTATACTGATTGAACCTAGCACTTACTTGCCAACTTGCTTGCTGGGCACTGGGACTCAGAAACAGTGCATAGTTATTCAGGAAGTCTATCTTCCCTGTTAACCTTAATGGAAAACGAACTTTCAAATTCCCTTCATTGTTTGTGGATGCCGTGATCTCAAATGGCTGGGCTGAAAAGAAAAGAGAATTTTTCAAAGTTCCAATAACCTTTCCATTTAAATGAGCATCATGCCTCCCAGTAAACTCTGCCTTCCCTTCTCCAAACAGTGCCATGCCTTTAGCAGTTAGAACACTGTGGCCCACATGCTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAACAGCATTTCACTCCCATGCTCCGTTCTCAGGTACTTGCTGGAGAACTTCACTGACTCCTTCAGAGCCAGCGGATTAATCTTAGGGTTTGAGAGTTGTGCATTTGCTTGAAAATCAAAATTGAGAACTTCTAATTTGGACTCTCCTTTGGCAGTGATGGAAGCTGCGATACCTGCTTCGTTTGCTGAGGTGGTTCCATTCCCTATGTCAGCATTTGCATCTAATGTGAAAAGAGGAGATTGGATTTTCAGAATACTGTATAGCTTGCCAAAAGTAGGTACTTCAATTGTGTGTGAGATGTGGGGAAGCTGGAATTCTGGTATGTGAAGGTCAGGAACTTGAAAATCATTAAGGTTGAGAGTTGGGATTATGAATTCTGGAATTGCGATTTCTGGTAAAC
Task1_train_3144
This mutation occurs in APOB (apolipoprotein B) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Pathogenic; APOB-related disorder
TCCAAAGGCAGTGAGGGTAGTTTTCAGCATGCTTTCTTTAGGAAGGTAGTTATTTGGATCAAATATAAGATTCCCTTCTATTTTGGCTGAGGCTGGGTCAAGTGATGGAAGAGAAACAGATTTGTAGAGTTGATAGTTCCGAGAGAATTTTCTGAAGTCCATGACAGTTGGAAGTTGAGATTCTTTCAGAGCTTCTTTCACTAACTTTTTCAGACTAGATAAGAAGAAGTATATTTTGAGCTGACACACCATGTTATTATCCTTTGACTCTTGCACCCCAAGTAAATATGGATTTCCAATCACTACCAAAATGTCTTGATTTCATTGACCCTAAGTCTTTGGGTCTAGATCTGCTACACATTTGCACAAGTGTTTGTTTCAGAAGCAAGGGCAGACAGTGGCTATGCCAAAACCTAGGGTTGGAATTCCAGCTCAGGGCCCTCAGTGGTATATGGGGTGAATAGCTCTTACTTACTCTTGGATATCCAATTCTTCTGAGTTCAAGATATTGGCAATATGGGAAGCCACAAAGTTCTTCACTTGCTCATTCTGTTCCCATGGTAGAATTTGGACAATTTTGTTAATATCTGCCTGTGAAGGACTCCTCATCAACATAAGATAGGCAGCCAGTCGCTTATCTCCCGGAGAAGCATCATCAAGGAAAGTCTGAAGAAGAACCTCCTGGTCCTGCAGTCAAAAGAGGAGATGGTTATCACTGTCCTGTGGTCAGAACACAGAACATGCCTGGCAAACACTGGCATTGTCTGCTAGCTCTTTCTTAAGCACAGGTCTAATTTCTCTGTAATCGTTCTTCAAATGCTGGTATTGAATCTTCTTGCCAGTGTTTCCTAGAGCACTATCAAGTAAGGGTTCCCAGAAAAAGCCTGTGGAATGCCTGTTGAATTCAATTCCATTAAAACACATAAATTATGGCCAAGTTGTGATTTGTTTGGAGATCCACCACTAAGTGAAAATCAAGTTGTTTTAACGTAAGTTATTTTAATGTGAGGATAAAGATGAGAAGGGGTAGTAAGAGTTTGGGGCTAATAAATAGGGTAGTTTCCAAAGTTCTGGAGTCTTTGCACCTAAGAGGGGGCCAAGTTGGCTATCCTAGCCTAAGCTTATTGGGGGAAAATTAAGCATGTTTTTCCATGATGAGAGGGATGGTCAATCTGGTAGGTGGACGGTAGGAAGCAAAAACATCTCACGTTCTGCATGTTGACATAGCAGCAAAGTCAAGTATTTCTCTCACGTCACATACTGCTAGGCAGTCAAGTCAATAGGCTTGTTGAAATTTGCAATTAGAAAACAGTAGAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGCAAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATGGCAAAACTCCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTAATGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGAGAGAATTGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGATTCCATCTCGAAAGAAGGAAGGAAGGAAGGAAAGAAGAAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGAAACAGCAGAATAAAGTCAGTAGATGAAATCTAGAGTCTCATTCCCCTAGTACCTTCCAAATCCTTGTTAATAAACTTTCACTTTCAGACCTCTTCTTGTGGACTTTACCTTGTCTTTAGGCTCCATTTTCCGCAGAGCCTGGATGGCAGCTTTCTGGATCATCAGTGATGGCTTTGTACTTTGGACACATTTCAGGATTGAAGACTTGAGTTCTGGAGTTAACTGCTCCATGGTTTGGCCCATATTTCCAATGACCTGCATTGAAGAAAAGAAACAAGAACCCATCAGGGTGCAGGAGAGGGAAGTAAAAGGTGTCCAGGAAAAGTGCTTCTGAAATGATGTATGTCATATAAAAGACTGAGATTACCCGCAGAATCAAATAGGTGTAATCTTCATCCCCAGTGCAGTCATCTTGAATCTGTTCCATCAGGTAATTAGCAATGTCCAGCAGCTCCTGGGTCCCTGTAGGGTTTGTCTTATGATAGCTACAGAATAAGAGAAGAGAGTCAGGACTTGGTAACCCCAGTTAGGTTTGTCTTAAAACCCAAACTTGTGAATTAGAAAAAATAATTATAAAATTCATATGGAATCCAAAAAGAGCCTGAATAGCTGAAGCAATTTTAAGCAAAAAGAACATAGCTGGAGGCATCACATTACCTGACTTCAGATTATACAACAAGGCTATAGTAATCTAAACAGCATGGTACTGGCATAAAAATAGACACATAGATCAATGGAACAGAATACTGAACCCAGAAATAAAGTCACATACTTACAGTCAACGGATCTTTGACAAAATTGACAAAAACATACACTAGGGAAAGGACACCCTTTTCAATAAGTGGTGCTGGGAAAGATGGATTGCCATATGCAGAAGAATAAAACTGGACTCCTATCTGTCACCATATAAAAAAATCAACTCAAGATGGATCAAAGACTTAAATATAAGACCTGAGACTATAAAAATGCAAGAAGAAAACCTAGGGAAAACTTCTCTGGACATTGGCCTAGACAAAGAATTCGTGAATAAGACCTCAAAGGCAAAGACAACAAAAACAAAAAATAGACAAATAGAACTTAATTAAAGTAAAAAGTTTCTGCACAGTAAAACAAATAATCAACAGGGTGGTAACCTGCAGAATGGGAGAAAATATTTGCAAACTATTCATCCAATGGGGTACTAATATCCGGAATGTACAAGCAATTCAAACAACTCAACAAAAAAATCCCCCAAATAATCCCATTAAAAAGTAGGCAAAGGACATGAATAGACATTTTTTTCAAAAGAAGACATACAAATGGCAATAGGCATATGAAAAAATGCATAACATTACTAATCATTAGAGAAATGTAAATTAAAACCACAATGAGATAACATCTTACAAGAGTCAGGAGGGCCATTATTCAAAAGACAAAAAATAACAGTTGTTGGTGAGGATACAGAGAAAAGGAAACAGTTAATCACTGTTGATGGGATTGTAAATAAGTACAACCACTATGGAAAACAATACAGAGATTTCTCAAAGAACTAAAAATAGAACTACCAATAAATCCAACAATCCCATTACTGGGTATATACCTAAAGGAAAAGAAATCATTATATCCAAAGGAAACCTGCACCCATATGTTTATCACAGCACTATTCACAATAGCAAAGACATGGAATCAACCTAAGTGTCTATCAATGGACGATTGGATTAAAAATGTGAAATGTATAGGCAATAAAATACTATTCGGCCATAAAAAGAATAAAATCATGTCATTTGCAGCAACATGGATGGAACTGGAGGTCATTGTCTTAAGTGAAACAGGACAGTCACAGAAAGACAAATATTGCGTGTTGTCATTTATAAGTGGGAGTGAAATAATGTGCACACAAGGACATAGTGTGTGGAATGATAGACAATTGAGACTCAGAAGGTGTGGAAGTGGAGGGAGATGGATGGTGAGAAATTACTTAGTGGGTACACTATATGTTGTCTGGGTGATGGATACCCTGAAAGCCCTGACTTAACTACTGCACAATCTATTCATGTAACAAAATTACACTTGTTCCACATAAATTTATATAAAAATGTAAAAAAGAAAAAGCCAAAAAATTTCATCAAAGGAAAAACCTGCTAGCCTGAGCAACATGGTGAAACCCTGTATCTACCAAGAATACAAAAATTAGCCAGGGCATGGTAGCATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAATTTGAGGCTTCAGTGAGCCGTGACTGCATCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAACAACAACAACAAAAAAAAACAAAACAAACAAACAAAAAAATTCAGAGGAAAAAACTGCTAACTAATATTGAACTGAAGTTAATAATATGCAAG
TCCAAAGGCAGTGAGGGTAGTTTTCAGCATGCTTTCTTTAGGAAGGTAGTTATTTGGATCAAATATAAGATTCCCTTCTATTTTGGCTGAGGCTGGGTCAAGTGATGGAAGAGAAACAGATTTGTAGAGTTGATAGTTCCGAGAGAATTTTCTGAAGTCCATGACAGTTGGAAGTTGAGATTCTTTCAGAGCTTCTTTCACTAACTTTTTCAGACTAGATAAGAAGAAGTATATTTTGAGCTGACACACCATGTTATTATCCTTTGACTCTTGCACCCCAAGTAAATATGGATTTCCAATCACTACCAAAATGTCTTGATTTCATTGACCCTAAGTCTTTGGGTCTAGATCTGCTACACATTTGCACAAGTGTTTGTTTCAGAAGCAAGGGCAGACAGTGGCTATGCCAAAACCTAGGGTTGGAATTCCAGCTCAGGGCCCTCAGTGGTATATGGGGTGAATAGCTCTTACTTACTCTTGGATATCCAATTCTTCTGAGTTCAAGATATTGGCAATATGGGAAGCCACAAAGTTCTTCACTTGCTCATTCTGTTCCCATGGTAGAATTTGGACAATTTTGTTAATATCTGCCTGTGAAGGACTCCTCATCAACATAAGATAGGCAGCCAGTCGCTTATCTCCCGGAGAAGCATCATCAAGGAAAGTCTGAAGAAGAACCTCCTGGTCCTGCAGTCAAAAGAGGAGATGGTTATCACTGTCCTGTGGTCAGAACACAGAACATGCCTGGCAAACACTGGCATTGTCTGCTAGCTCTTTCTTAAGCACAGGTCTAATTTCTCTGTAATCGTTCTTCAAATGCTGGTATTGAATCTTCTTGCCAGTGTTTCCTAGAGCACTATCAAGTAAGGGTTCCCAGAAAAAGCCTGTGGAATGCCTGTTGAATTCAATTCCATTAAAACACATAAATTATGGCCAAGTTGTGATTTGTTTGGAGATCCACCACTAAGTGAAAATCAAGTTGTTTTAACGTAAGTTATTTTAATGTGAGGATAAAGATGAGAAGGGGTAGTAAGAGTTTGGGGCTAATAAATAGGGTAGTTTCCAAAGTTCTGGAGTCTTTGCACCTAAGAGGGGGCCAAGTTGGCTATCCTAGCCTAAGCTTATTGGGGGAAAATTAAGCATGTTTTTCCATGATGAGAGGGATGGTCAATCTGGTAGGTGGACGGTAGGAAGCAAAAACATCTCACGTTCTGCATGTTGACATAGCAGCAAAGTCAAGTATTTCTCTCACGTCACATACTGCTAGGCAGTCAAGTCAATAGGCTTGTTGAAATTTGCAATTAGAAAACAGTAGAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGCAAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATGGCAAAACTCCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTAATGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGAGAGAATTGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGATTCCATCTCGAAAGAAGGAAGGAAGGAAGGAAAGAAGAAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGAAACAGCAGAATAAAGTCAGTAGATGAAATCTAGAGTCTCATTCCCCTAGTACCTTCCAAATCCTTGTTAATAAACTTTCACTTTCAGACCTCTTCTTGTGGACTTTACCTTGTCTTTAGGCTCCATTTTCCGCAGAGCCTGGATGGCAGCTTTCTGGATCATCAGTGATGGCTTTGTACTTTGGACACATTTCAGGATTGAAGACTTGAGTTCTGGAGTTAACTGCTCCATGGTTTGGCCCATATTTCCAATGACCTGCATTGAAGAAAAGAAACAAGAACCCATCAGGGTGCAGGAGAGGGAAGTAAAAGGTGTCCAGGAAAAGTGCTTCTGAAATGATGTATGTCATATAAAAGACTGAGATTACCCACAGAATCAAATAGGTGTAATCTTCATCCCCAGTGCAGTCATCTTGAATCTGTTCCATCAGGTAATTAGCAATGTCCAGCAGCTCCTGGGTCCCTGTAGGGTTTGTCTTATGATAGCTACAGAATAAGAGAAGAGAGTCAGGACTTGGTAACCCCAGTTAGGTTTGTCTTAAAACCCAAACTTGTGAATTAGAAAAAATAATTATAAAATTCATATGGAATCCAAAAAGAGCCTGAATAGCTGAAGCAATTTTAAGCAAAAAGAACATAGCTGGAGGCATCACATTACCTGACTTCAGATTATACAACAAGGCTATAGTAATCTAAACAGCATGGTACTGGCATAAAAATAGACACATAGATCAATGGAACAGAATACTGAACCCAGAAATAAAGTCACATACTTACAGTCAACGGATCTTTGACAAAATTGACAAAAACATACACTAGGGAAAGGACACCCTTTTCAATAAGTGGTGCTGGGAAAGATGGATTGCCATATGCAGAAGAATAAAACTGGACTCCTATCTGTCACCATATAAAAAAATCAACTCAAGATGGATCAAAGACTTAAATATAAGACCTGAGACTATAAAAATGCAAGAAGAAAACCTAGGGAAAACTTCTCTGGACATTGGCCTAGACAAAGAATTCGTGAATAAGACCTCAAAGGCAAAGACAACAAAAACAAAAAATAGACAAATAGAACTTAATTAAAGTAAAAAGTTTCTGCACAGTAAAACAAATAATCAACAGGGTGGTAACCTGCAGAATGGGAGAAAATATTTGCAAACTATTCATCCAATGGGGTACTAATATCCGGAATGTACAAGCAATTCAAACAACTCAACAAAAAAATCCCCCAAATAATCCCATTAAAAAGTAGGCAAAGGACATGAATAGACATTTTTTTCAAAAGAAGACATACAAATGGCAATAGGCATATGAAAAAATGCATAACATTACTAATCATTAGAGAAATGTAAATTAAAACCACAATGAGATAACATCTTACAAGAGTCAGGAGGGCCATTATTCAAAAGACAAAAAATAACAGTTGTTGGTGAGGATACAGAGAAAAGGAAACAGTTAATCACTGTTGATGGGATTGTAAATAAGTACAACCACTATGGAAAACAATACAGAGATTTCTCAAAGAACTAAAAATAGAACTACCAATAAATCCAACAATCCCATTACTGGGTATATACCTAAAGGAAAAGAAATCATTATATCCAAAGGAAACCTGCACCCATATGTTTATCACAGCACTATTCACAATAGCAAAGACATGGAATCAACCTAAGTGTCTATCAATGGACGATTGGATTAAAAATGTGAAATGTATAGGCAATAAAATACTATTCGGCCATAAAAAGAATAAAATCATGTCATTTGCAGCAACATGGATGGAACTGGAGGTCATTGTCTTAAGTGAAACAGGACAGTCACAGAAAGACAAATATTGCGTGTTGTCATTTATAAGTGGGAGTGAAATAATGTGCACACAAGGACATAGTGTGTGGAATGATAGACAATTGAGACTCAGAAGGTGTGGAAGTGGAGGGAGATGGATGGTGAGAAATTACTTAGTGGGTACACTATATGTTGTCTGGGTGATGGATACCCTGAAAGCCCTGACTTAACTACTGCACAATCTATTCATGTAACAAAATTACACTTGTTCCACATAAATTTATATAAAAATGTAAAAAAGAAAAAGCCAAAAAATTTCATCAAAGGAAAAACCTGCTAGCCTGAGCAACATGGTGAAACCCTGTATCTACCAAGAATACAAAAATTAGCCAGGGCATGGTAGCATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAATTTGAGGCTTCAGTGAGCCGTGACTGCATCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAACAACAACAACAAAAAAAAACAAAACAAACAAACAAAAAAATTCAGAGGAAAAAACTGCTAACTAATATTGAACTGAAGTTAATAATATGCAAG
Task1_train_3145
This alteration in APOB (apolipoprotein B) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Hypercholesterolemia, autosomal dominant, type B
TCCAAAGGCAGTGAGGGTAGTTTTCAGCATGCTTTCTTTAGGAAGGTAGTTATTTGGATCAAATATAAGATTCCCTTCTATTTTGGCTGAGGCTGGGTCAAGTGATGGAAGAGAAACAGATTTGTAGAGTTGATAGTTCCGAGAGAATTTTCTGAAGTCCATGACAGTTGGAAGTTGAGATTCTTTCAGAGCTTCTTTCACTAACTTTTTCAGACTAGATAAGAAGAAGTATATTTTGAGCTGACACACCATGTTATTATCCTTTGACTCTTGCACCCCAAGTAAATATGGATTTCCAATCACTACCAAAATGTCTTGATTTCATTGACCCTAAGTCTTTGGGTCTAGATCTGCTACACATTTGCACAAGTGTTTGTTTCAGAAGCAAGGGCAGACAGTGGCTATGCCAAAACCTAGGGTTGGAATTCCAGCTCAGGGCCCTCAGTGGTATATGGGGTGAATAGCTCTTACTTACTCTTGGATATCCAATTCTTCTGAGTTCAAGATATTGGCAATATGGGAAGCCACAAAGTTCTTCACTTGCTCATTCTGTTCCCATGGTAGAATTTGGACAATTTTGTTAATATCTGCCTGTGAAGGACTCCTCATCAACATAAGATAGGCAGCCAGTCGCTTATCTCCCGGAGAAGCATCATCAAGGAAAGTCTGAAGAAGAACCTCCTGGTCCTGCAGTCAAAAGAGGAGATGGTTATCACTGTCCTGTGGTCAGAACACAGAACATGCCTGGCAAACACTGGCATTGTCTGCTAGCTCTTTCTTAAGCACAGGTCTAATTTCTCTGTAATCGTTCTTCAAATGCTGGTATTGAATCTTCTTGCCAGTGTTTCCTAGAGCACTATCAAGTAAGGGTTCCCAGAAAAAGCCTGTGGAATGCCTGTTGAATTCAATTCCATTAAAACACATAAATTATGGCCAAGTTGTGATTTGTTTGGAGATCCACCACTAAGTGAAAATCAAGTTGTTTTAACGTAAGTTATTTTAATGTGAGGATAAAGATGAGAAGGGGTAGTAAGAGTTTGGGGCTAATAAATAGGGTAGTTTCCAAAGTTCTGGAGTCTTTGCACCTAAGAGGGGGCCAAGTTGGCTATCCTAGCCTAAGCTTATTGGGGGAAAATTAAGCATGTTTTTCCATGATGAGAGGGATGGTCAATCTGGTAGGTGGACGGTAGGAAGCAAAAACATCTCACGTTCTGCATGTTGACATAGCAGCAAAGTCAAGTATTTCTCTCACGTCACATACTGCTAGGCAGTCAAGTCAATAGGCTTGTTGAAATTTGCAATTAGAAAACAGTAGAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGCAAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATGGCAAAACTCCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTAATGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGAGAGAATTGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGATTCCATCTCGAAAGAAGGAAGGAAGGAAGGAAAGAAGAAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGAAACAGCAGAATAAAGTCAGTAGATGAAATCTAGAGTCTCATTCCCCTAGTACCTTCCAAATCCTTGTTAATAAACTTTCACTTTCAGACCTCTTCTTGTGGACTTTACCTTGTCTTTAGGCTCCATTTTCCGCAGAGCCTGGATGGCAGCTTTCTGGATCATCAGTGATGGCTTTGTACTTTGGACACATTTCAGGATTGAAGACTTGAGTTCTGGAGTTAACTGCTCCATGGTTTGGCCCATATTTCCAATGACCTGCATTGAAGAAAAGAAACAAGAACCCATCAGGGTGCAGGAGAGGGAAGTAAAAGGTGTCCAGGAAAAGTGCTTCTGAAATGATGTATGTCATATAAAAGACTGAGATTACCCGCAGAATCAAATAGGTGTAATCTTCATCCCCAGTGCAGTCATCTTGAATCTGTTCCATCAGGTAATTAGCAATGTCCAGCAGCTCCTGGGTCCCTGTAGGGTTTGTCTTATGATAGCTACAGAATAAGAGAAGAGAGTCAGGACTTGGTAACCCCAGTTAGGTTTGTCTTAAAACCCAAACTTGTGAATTAGAAAAAATAATTATAAAATTCATATGGAATCCAAAAAGAGCCTGAATAGCTGAAGCAATTTTAAGCAAAAAGAACATAGCTGGAGGCATCACATTACCTGACTTCAGATTATACAACAAGGCTATAGTAATCTAAACAGCATGGTACTGGCATAAAAATAGACACATAGATCAATGGAACAGAATACTGAACCCAGAAATAAAGTCACATACTTACAGTCAACGGATCTTTGACAAAATTGACAAAAACATACACTAGGGAAAGGACACCCTTTTCAATAAGTGGTGCTGGGAAAGATGGATTGCCATATGCAGAAGAATAAAACTGGACTCCTATCTGTCACCATATAAAAAAATCAACTCAAGATGGATCAAAGACTTAAATATAAGACCTGAGACTATAAAAATGCAAGAAGAAAACCTAGGGAAAACTTCTCTGGACATTGGCCTAGACAAAGAATTCGTGAATAAGACCTCAAAGGCAAAGACAACAAAAACAAAAAATAGACAAATAGAACTTAATTAAAGTAAAAAGTTTCTGCACAGTAAAACAAATAATCAACAGGGTGGTAACCTGCAGAATGGGAGAAAATATTTGCAAACTATTCATCCAATGGGGTACTAATATCCGGAATGTACAAGCAATTCAAACAACTCAACAAAAAAATCCCCCAAATAATCCCATTAAAAAGTAGGCAAAGGACATGAATAGACATTTTTTTCAAAAGAAGACATACAAATGGCAATAGGCATATGAAAAAATGCATAACATTACTAATCATTAGAGAAATGTAAATTAAAACCACAATGAGATAACATCTTACAAGAGTCAGGAGGGCCATTATTCAAAAGACAAAAAATAACAGTTGTTGGTGAGGATACAGAGAAAAGGAAACAGTTAATCACTGTTGATGGGATTGTAAATAAGTACAACCACTATGGAAAACAATACAGAGATTTCTCAAAGAACTAAAAATAGAACTACCAATAAATCCAACAATCCCATTACTGGGTATATACCTAAAGGAAAAGAAATCATTATATCCAAAGGAAACCTGCACCCATATGTTTATCACAGCACTATTCACAATAGCAAAGACATGGAATCAACCTAAGTGTCTATCAATGGACGATTGGATTAAAAATGTGAAATGTATAGGCAATAAAATACTATTCGGCCATAAAAAGAATAAAATCATGTCATTTGCAGCAACATGGATGGAACTGGAGGTCATTGTCTTAAGTGAAACAGGACAGTCACAGAAAGACAAATATTGCGTGTTGTCATTTATAAGTGGGAGTGAAATAATGTGCACACAAGGACATAGTGTGTGGAATGATAGACAATTGAGACTCAGAAGGTGTGGAAGTGGAGGGAGATGGATGGTGAGAAATTACTTAGTGGGTACACTATATGTTGTCTGGGTGATGGATACCCTGAAAGCCCTGACTTAACTACTGCACAATCTATTCATGTAACAAAATTACACTTGTTCCACATAAATTTATATAAAAATGTAAAAAAGAAAAAGCCAAAAAATTTCATCAAAGGAAAAACCTGCTAGCCTGAGCAACATGGTGAAACCCTGTATCTACCAAGAATACAAAAATTAGCCAGGGCATGGTAGCATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAATTTGAGGCTTCAGTGAGCCGTGACTGCATCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAACAACAACAACAAAAAAAAACAAAACAAACAAACAAAAAAATTCAGAGGAAAAAACTGCTAACTAATATTGAACTGAAGTTAATAATATGCAAG
TCCAAAGGCAGTGAGGGTAGTTTTCAGCATGCTTTCTTTAGGAAGGTAGTTATTTGGATCAAATATAAGATTCCCTTCTATTTTGGCTGAGGCTGGGTCAAGTGATGGAAGAGAAACAGATTTGTAGAGTTGATAGTTCCGAGAGAATTTTCTGAAGTCCATGACAGTTGGAAGTTGAGATTCTTTCAGAGCTTCTTTCACTAACTTTTTCAGACTAGATAAGAAGAAGTATATTTTGAGCTGACACACCATGTTATTATCCTTTGACTCTTGCACCCCAAGTAAATATGGATTTCCAATCACTACCAAAATGTCTTGATTTCATTGACCCTAAGTCTTTGGGTCTAGATCTGCTACACATTTGCACAAGTGTTTGTTTCAGAAGCAAGGGCAGACAGTGGCTATGCCAAAACCTAGGGTTGGAATTCCAGCTCAGGGCCCTCAGTGGTATATGGGGTGAATAGCTCTTACTTACTCTTGGATATCCAATTCTTCTGAGTTCAAGATATTGGCAATATGGGAAGCCACAAAGTTCTTCACTTGCTCATTCTGTTCCCATGGTAGAATTTGGACAATTTTGTTAATATCTGCCTGTGAAGGACTCCTCATCAACATAAGATAGGCAGCCAGTCGCTTATCTCCCGGAGAAGCATCATCAAGGAAAGTCTGAAGAAGAACCTCCTGGTCCTGCAGTCAAAAGAGGAGATGGTTATCACTGTCCTGTGGTCAGAACACAGAACATGCCTGGCAAACACTGGCATTGTCTGCTAGCTCTTTCTTAAGCACAGGTCTAATTTCTCTGTAATCGTTCTTCAAATGCTGGTATTGAATCTTCTTGCCAGTGTTTCCTAGAGCACTATCAAGTAAGGGTTCCCAGAAAAAGCCTGTGGAATGCCTGTTGAATTCAATTCCATTAAAACACATAAATTATGGCCAAGTTGTGATTTGTTTGGAGATCCACCACTAAGTGAAAATCAAGTTGTTTTAACGTAAGTTATTTTAATGTGAGGATAAAGATGAGAAGGGGTAGTAAGAGTTTGGGGCTAATAAATAGGGTAGTTTCCAAAGTTCTGGAGTCTTTGCACCTAAGAGGGGGCCAAGTTGGCTATCCTAGCCTAAGCTTATTGGGGGAAAATTAAGCATGTTTTTCCATGATGAGAGGGATGGTCAATCTGGTAGGTGGACGGTAGGAAGCAAAAACATCTCACGTTCTGCATGTTGACATAGCAGCAAAGTCAAGTATTTCTCTCACGTCACATACTGCTAGGCAGTCAAGTCAATAGGCTTGTTGAAATTTGCAATTAGAAAACAGTAGAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGCAAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATGGCAAAACTCCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTAATGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGAGAGAATTGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGATTCCATCTCGAAAGAAGGAAGGAAGGAAGGAAAGAAGAAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGAAACAGCAGAATAAAGTCAGTAGATGAAATCTAGAGTCTCATTCCCCTAGTACCTTCCAAATCCTTGTTAATAAACTTTCACTTTCAGACCTCTTCTTGTGGACTTTACCTTGTCTTTAGGCTCCATTTTCCGCAGAGCCTGGATGGCAGCTTTCTGGATCATCAGTGATGGCTTTGTACTTTGGACACATTTCAGGATTGAAGACTTGAGTTCTGGAGTTAACTGCTCCATGGTTTGGCCCATATTTCCAATGACCTGCATTGAAGAAAAGAAACAAGAACCCATCAGGGTGCAGGAGAGGGAAGTAAAAGGTGTCCAGGAAAAGTGCTTCTGAAATGATGTATGTCATATAAAAGACTGAGATTACCCACAGAATCAAATAGGTGTAATCTTCATCCCCAGTGCAGTCATCTTGAATCTGTTCCATCAGGTAATTAGCAATGTCCAGCAGCTCCTGGGTCCCTGTAGGGTTTGTCTTATGATAGCTACAGAATAAGAGAAGAGAGTCAGGACTTGGTAACCCCAGTTAGGTTTGTCTTAAAACCCAAACTTGTGAATTAGAAAAAATAATTATAAAATTCATATGGAATCCAAAAAGAGCCTGAATAGCTGAAGCAATTTTAAGCAAAAAGAACATAGCTGGAGGCATCACATTACCTGACTTCAGATTATACAACAAGGCTATAGTAATCTAAACAGCATGGTACTGGCATAAAAATAGACACATAGATCAATGGAACAGAATACTGAACCCAGAAATAAAGTCACATACTTACAGTCAACGGATCTTTGACAAAATTGACAAAAACATACACTAGGGAAAGGACACCCTTTTCAATAAGTGGTGCTGGGAAAGATGGATTGCCATATGCAGAAGAATAAAACTGGACTCCTATCTGTCACCATATAAAAAAATCAACTCAAGATGGATCAAAGACTTAAATATAAGACCTGAGACTATAAAAATGCAAGAAGAAAACCTAGGGAAAACTTCTCTGGACATTGGCCTAGACAAAGAATTCGTGAATAAGACCTCAAAGGCAAAGACAACAAAAACAAAAAATAGACAAATAGAACTTAATTAAAGTAAAAAGTTTCTGCACAGTAAAACAAATAATCAACAGGGTGGTAACCTGCAGAATGGGAGAAAATATTTGCAAACTATTCATCCAATGGGGTACTAATATCCGGAATGTACAAGCAATTCAAACAACTCAACAAAAAAATCCCCCAAATAATCCCATTAAAAAGTAGGCAAAGGACATGAATAGACATTTTTTTCAAAAGAAGACATACAAATGGCAATAGGCATATGAAAAAATGCATAACATTACTAATCATTAGAGAAATGTAAATTAAAACCACAATGAGATAACATCTTACAAGAGTCAGGAGGGCCATTATTCAAAAGACAAAAAATAACAGTTGTTGGTGAGGATACAGAGAAAAGGAAACAGTTAATCACTGTTGATGGGATTGTAAATAAGTACAACCACTATGGAAAACAATACAGAGATTTCTCAAAGAACTAAAAATAGAACTACCAATAAATCCAACAATCCCATTACTGGGTATATACCTAAAGGAAAAGAAATCATTATATCCAAAGGAAACCTGCACCCATATGTTTATCACAGCACTATTCACAATAGCAAAGACATGGAATCAACCTAAGTGTCTATCAATGGACGATTGGATTAAAAATGTGAAATGTATAGGCAATAAAATACTATTCGGCCATAAAAAGAATAAAATCATGTCATTTGCAGCAACATGGATGGAACTGGAGGTCATTGTCTTAAGTGAAACAGGACAGTCACAGAAAGACAAATATTGCGTGTTGTCATTTATAAGTGGGAGTGAAATAATGTGCACACAAGGACATAGTGTGTGGAATGATAGACAATTGAGACTCAGAAGGTGTGGAAGTGGAGGGAGATGGATGGTGAGAAATTACTTAGTGGGTACACTATATGTTGTCTGGGTGATGGATACCCTGAAAGCCCTGACTTAACTACTGCACAATCTATTCATGTAACAAAATTACACTTGTTCCACATAAATTTATATAAAAATGTAAAAAAGAAAAAGCCAAAAAATTTCATCAAAGGAAAAACCTGCTAGCCTGAGCAACATGGTGAAACCCTGTATCTACCAAGAATACAAAAATTAGCCAGGGCATGGTAGCATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAATTTGAGGCTTCAGTGAGCCGTGACTGCATCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAACAACAACAACAAAAAAAAACAAAACAAACAAACAAAAAAATTCAGAGGAAAAAACTGCTAACTAATATTGAACTGAAGTTAATAATATGCAAG
Task1_train_3146
This variant affects gene APOB (apolipoprotein B) located on Chromosome 2. Evaluate its biological effect and specify any disease association.
Pathogenic; Hypercholesterolemia, autosomal dominant, type B
TCCAAAGGCAGTGAGGGTAGTTTTCAGCATGCTTTCTTTAGGAAGGTAGTTATTTGGATCAAATATAAGATTCCCTTCTATTTTGGCTGAGGCTGGGTCAAGTGATGGAAGAGAAACAGATTTGTAGAGTTGATAGTTCCGAGAGAATTTTCTGAAGTCCATGACAGTTGGAAGTTGAGATTCTTTCAGAGCTTCTTTCACTAACTTTTTCAGACTAGATAAGAAGAAGTATATTTTGAGCTGACACACCATGTTATTATCCTTTGACTCTTGCACCCCAAGTAAATATGGATTTCCAATCACTACCAAAATGTCTTGATTTCATTGACCCTAAGTCTTTGGGTCTAGATCTGCTACACATTTGCACAAGTGTTTGTTTCAGAAGCAAGGGCAGACAGTGGCTATGCCAAAACCTAGGGTTGGAATTCCAGCTCAGGGCCCTCAGTGGTATATGGGGTGAATAGCTCTTACTTACTCTTGGATATCCAATTCTTCTGAGTTCAAGATATTGGCAATATGGGAAGCCACAAAGTTCTTCACTTGCTCATTCTGTTCCCATGGTAGAATTTGGACAATTTTGTTAATATCTGCCTGTGAAGGACTCCTCATCAACATAAGATAGGCAGCCAGTCGCTTATCTCCCGGAGAAGCATCATCAAGGAAAGTCTGAAGAAGAACCTCCTGGTCCTGCAGTCAAAAGAGGAGATGGTTATCACTGTCCTGTGGTCAGAACACAGAACATGCCTGGCAAACACTGGCATTGTCTGCTAGCTCTTTCTTAAGCACAGGTCTAATTTCTCTGTAATCGTTCTTCAAATGCTGGTATTGAATCTTCTTGCCAGTGTTTCCTAGAGCACTATCAAGTAAGGGTTCCCAGAAAAAGCCTGTGGAATGCCTGTTGAATTCAATTCCATTAAAACACATAAATTATGGCCAAGTTGTGATTTGTTTGGAGATCCACCACTAAGTGAAAATCAAGTTGTTTTAACGTAAGTTATTTTAATGTGAGGATAAAGATGAGAAGGGGTAGTAAGAGTTTGGGGCTAATAAATAGGGTAGTTTCCAAAGTTCTGGAGTCTTTGCACCTAAGAGGGGGCCAAGTTGGCTATCCTAGCCTAAGCTTATTGGGGGAAAATTAAGCATGTTTTTCCATGATGAGAGGGATGGTCAATCTGGTAGGTGGACGGTAGGAAGCAAAAACATCTCACGTTCTGCATGTTGACATAGCAGCAAAGTCAAGTATTTCTCTCACGTCACATACTGCTAGGCAGTCAAGTCAATAGGCTTGTTGAAATTTGCAATTAGAAAACAGTAGAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGCAAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATGGCAAAACTCCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTAATGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGAGAGAATTGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGATTCCATCTCGAAAGAAGGAAGGAAGGAAGGAAAGAAGAAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGAAACAGCAGAATAAAGTCAGTAGATGAAATCTAGAGTCTCATTCCCCTAGTACCTTCCAAATCCTTGTTAATAAACTTTCACTTTCAGACCTCTTCTTGTGGACTTTACCTTGTCTTTAGGCTCCATTTTCCGCAGAGCCTGGATGGCAGCTTTCTGGATCATCAGTGATGGCTTTGTACTTTGGACACATTTCAGGATTGAAGACTTGAGTTCTGGAGTTAACTGCTCCATGGTTTGGCCCATATTTCCAATGACCTGCATTGAAGAAAAGAAACAAGAACCCATCAGGGTGCAGGAGAGGGAAGTAAAAGGTGTCCAGGAAAAGTGCTTCTGAAATGATGTATGTCATATAAAAGACTGAGATTACCCGCAGAATCAAATAGGTGTAATCTTCATCCCCAGTGCAGTCATCTTGAATCTGTTCCATCAGGTAATTAGCAATGTCCAGCAGCTCCTGGGTCCCTGTAGGGTTTGTCTTATGATAGCTACAGAATAAGAGAAGAGAGTCAGGACTTGGTAACCCCAGTTAGGTTTGTCTTAAAACCCAAACTTGTGAATTAGAAAAAATAATTATAAAATTCATATGGAATCCAAAAAGAGCCTGAATAGCTGAAGCAATTTTAAGCAAAAAGAACATAGCTGGAGGCATCACATTACCTGACTTCAGATTATACAACAAGGCTATAGTAATCTAAACAGCATGGTACTGGCATAAAAATAGACACATAGATCAATGGAACAGAATACTGAACCCAGAAATAAAGTCACATACTTACAGTCAACGGATCTTTGACAAAATTGACAAAAACATACACTAGGGAAAGGACACCCTTTTCAATAAGTGGTGCTGGGAAAGATGGATTGCCATATGCAGAAGAATAAAACTGGACTCCTATCTGTCACCATATAAAAAAATCAACTCAAGATGGATCAAAGACTTAAATATAAGACCTGAGACTATAAAAATGCAAGAAGAAAACCTAGGGAAAACTTCTCTGGACATTGGCCTAGACAAAGAATTCGTGAATAAGACCTCAAAGGCAAAGACAACAAAAACAAAAAATAGACAAATAGAACTTAATTAAAGTAAAAAGTTTCTGCACAGTAAAACAAATAATCAACAGGGTGGTAACCTGCAGAATGGGAGAAAATATTTGCAAACTATTCATCCAATGGGGTACTAATATCCGGAATGTACAAGCAATTCAAACAACTCAACAAAAAAATCCCCCAAATAATCCCATTAAAAAGTAGGCAAAGGACATGAATAGACATTTTTTTCAAAAGAAGACATACAAATGGCAATAGGCATATGAAAAAATGCATAACATTACTAATCATTAGAGAAATGTAAATTAAAACCACAATGAGATAACATCTTACAAGAGTCAGGAGGGCCATTATTCAAAAGACAAAAAATAACAGTTGTTGGTGAGGATACAGAGAAAAGGAAACAGTTAATCACTGTTGATGGGATTGTAAATAAGTACAACCACTATGGAAAACAATACAGAGATTTCTCAAAGAACTAAAAATAGAACTACCAATAAATCCAACAATCCCATTACTGGGTATATACCTAAAGGAAAAGAAATCATTATATCCAAAGGAAACCTGCACCCATATGTTTATCACAGCACTATTCACAATAGCAAAGACATGGAATCAACCTAAGTGTCTATCAATGGACGATTGGATTAAAAATGTGAAATGTATAGGCAATAAAATACTATTCGGCCATAAAAAGAATAAAATCATGTCATTTGCAGCAACATGGATGGAACTGGAGGTCATTGTCTTAAGTGAAACAGGACAGTCACAGAAAGACAAATATTGCGTGTTGTCATTTATAAGTGGGAGTGAAATAATGTGCACACAAGGACATAGTGTGTGGAATGATAGACAATTGAGACTCAGAAGGTGTGGAAGTGGAGGGAGATGGATGGTGAGAAATTACTTAGTGGGTACACTATATGTTGTCTGGGTGATGGATACCCTGAAAGCCCTGACTTAACTACTGCACAATCTATTCATGTAACAAAATTACACTTGTTCCACATAAATTTATATAAAAATGTAAAAAAGAAAAAGCCAAAAAATTTCATCAAAGGAAAAACCTGCTAGCCTGAGCAACATGGTGAAACCCTGTATCTACCAAGAATACAAAAATTAGCCAGGGCATGGTAGCATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAATTTGAGGCTTCAGTGAGCCGTGACTGCATCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAACAACAACAACAAAAAAAAACAAAACAAACAAACAAAAAAATTCAGAGGAAAAAACTGCTAACTAATATTGAACTGAAGTTAATAATATGCAAG
TCCAAAGGCAGTGAGGGTAGTTTTCAGCATGCTTTCTTTAGGAAGGTAGTTATTTGGATCAAATATAAGATTCCCTTCTATTTTGGCTGAGGCTGGGTCAAGTGATGGAAGAGAAACAGATTTGTAGAGTTGATAGTTCCGAGAGAATTTTCTGAAGTCCATGACAGTTGGAAGTTGAGATTCTTTCAGAGCTTCTTTCACTAACTTTTTCAGACTAGATAAGAAGAAGTATATTTTGAGCTGACACACCATGTTATTATCCTTTGACTCTTGCACCCCAAGTAAATATGGATTTCCAATCACTACCAAAATGTCTTGATTTCATTGACCCTAAGTCTTTGGGTCTAGATCTGCTACACATTTGCACAAGTGTTTGTTTCAGAAGCAAGGGCAGACAGTGGCTATGCCAAAACCTAGGGTTGGAATTCCAGCTCAGGGCCCTCAGTGGTATATGGGGTGAATAGCTCTTACTTACTCTTGGATATCCAATTCTTCTGAGTTCAAGATATTGGCAATATGGGAAGCCACAAAGTTCTTCACTTGCTCATTCTGTTCCCATGGTAGAATTTGGACAATTTTGTTAATATCTGCCTGTGAAGGACTCCTCATCAACATAAGATAGGCAGCCAGTCGCTTATCTCCCGGAGAAGCATCATCAAGGAAAGTCTGAAGAAGAACCTCCTGGTCCTGCAGTCAAAAGAGGAGATGGTTATCACTGTCCTGTGGTCAGAACACAGAACATGCCTGGCAAACACTGGCATTGTCTGCTAGCTCTTTCTTAAGCACAGGTCTAATTTCTCTGTAATCGTTCTTCAAATGCTGGTATTGAATCTTCTTGCCAGTGTTTCCTAGAGCACTATCAAGTAAGGGTTCCCAGAAAAAGCCTGTGGAATGCCTGTTGAATTCAATTCCATTAAAACACATAAATTATGGCCAAGTTGTGATTTGTTTGGAGATCCACCACTAAGTGAAAATCAAGTTGTTTTAACGTAAGTTATTTTAATGTGAGGATAAAGATGAGAAGGGGTAGTAAGAGTTTGGGGCTAATAAATAGGGTAGTTTCCAAAGTTCTGGAGTCTTTGCACCTAAGAGGGGGCCAAGTTGGCTATCCTAGCCTAAGCTTATTGGGGGAAAATTAAGCATGTTTTTCCATGATGAGAGGGATGGTCAATCTGGTAGGTGGACGGTAGGAAGCAAAAACATCTCACGTTCTGCATGTTGACATAGCAGCAAAGTCAAGTATTTCTCTCACGTCACATACTGCTAGGCAGTCAAGTCAATAGGCTTGTTGAAATTTGCAATTAGAAAACAGTAGAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGCAAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATGGCAAAACTCCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTAATGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGAGAGAATTGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGATTCCATCTCGAAAGAAGGAAGGAAGGAAGGAAAGAAGAAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGAAACAGCAGAATAAAGTCAGTAGATGAAATCTAGAGTCTCATTCCCCTAGTACCTTCCAAATCCTTGTTAATAAACTTTCACTTTCAGACCTCTTCTTGTGGACTTTACCTTGTCTTTAGGCTCCATTTTCCGCAGAGCCTGGATGGCAGCTTTCTGGATCATCAGTGATGGCTTTGTACTTTGGACACATTTCAGGATTGAAGACTTGAGTTCTGGAGTTAACTGCTCCATGGTTTGGCCCATATTTCCAATGACCTGCATTGAAGAAAAGAAACAAGAACCCATCAGGGTGCAGGAGAGGGAAGTAAAAGGTGTCCAGGAAAAGTGCTTCTGAAATGATGTATGTCATATAAAAGACTGAGATTACCCACAGAATCAAATAGGTGTAATCTTCATCCCCAGTGCAGTCATCTTGAATCTGTTCCATCAGGTAATTAGCAATGTCCAGCAGCTCCTGGGTCCCTGTAGGGTTTGTCTTATGATAGCTACAGAATAAGAGAAGAGAGTCAGGACTTGGTAACCCCAGTTAGGTTTGTCTTAAAACCCAAACTTGTGAATTAGAAAAAATAATTATAAAATTCATATGGAATCCAAAAAGAGCCTGAATAGCTGAAGCAATTTTAAGCAAAAAGAACATAGCTGGAGGCATCACATTACCTGACTTCAGATTATACAACAAGGCTATAGTAATCTAAACAGCATGGTACTGGCATAAAAATAGACACATAGATCAATGGAACAGAATACTGAACCCAGAAATAAAGTCACATACTTACAGTCAACGGATCTTTGACAAAATTGACAAAAACATACACTAGGGAAAGGACACCCTTTTCAATAAGTGGTGCTGGGAAAGATGGATTGCCATATGCAGAAGAATAAAACTGGACTCCTATCTGTCACCATATAAAAAAATCAACTCAAGATGGATCAAAGACTTAAATATAAGACCTGAGACTATAAAAATGCAAGAAGAAAACCTAGGGAAAACTTCTCTGGACATTGGCCTAGACAAAGAATTCGTGAATAAGACCTCAAAGGCAAAGACAACAAAAACAAAAAATAGACAAATAGAACTTAATTAAAGTAAAAAGTTTCTGCACAGTAAAACAAATAATCAACAGGGTGGTAACCTGCAGAATGGGAGAAAATATTTGCAAACTATTCATCCAATGGGGTACTAATATCCGGAATGTACAAGCAATTCAAACAACTCAACAAAAAAATCCCCCAAATAATCCCATTAAAAAGTAGGCAAAGGACATGAATAGACATTTTTTTCAAAAGAAGACATACAAATGGCAATAGGCATATGAAAAAATGCATAACATTACTAATCATTAGAGAAATGTAAATTAAAACCACAATGAGATAACATCTTACAAGAGTCAGGAGGGCCATTATTCAAAAGACAAAAAATAACAGTTGTTGGTGAGGATACAGAGAAAAGGAAACAGTTAATCACTGTTGATGGGATTGTAAATAAGTACAACCACTATGGAAAACAATACAGAGATTTCTCAAAGAACTAAAAATAGAACTACCAATAAATCCAACAATCCCATTACTGGGTATATACCTAAAGGAAAAGAAATCATTATATCCAAAGGAAACCTGCACCCATATGTTTATCACAGCACTATTCACAATAGCAAAGACATGGAATCAACCTAAGTGTCTATCAATGGACGATTGGATTAAAAATGTGAAATGTATAGGCAATAAAATACTATTCGGCCATAAAAAGAATAAAATCATGTCATTTGCAGCAACATGGATGGAACTGGAGGTCATTGTCTTAAGTGAAACAGGACAGTCACAGAAAGACAAATATTGCGTGTTGTCATTTATAAGTGGGAGTGAAATAATGTGCACACAAGGACATAGTGTGTGGAATGATAGACAATTGAGACTCAGAAGGTGTGGAAGTGGAGGGAGATGGATGGTGAGAAATTACTTAGTGGGTACACTATATGTTGTCTGGGTGATGGATACCCTGAAAGCCCTGACTTAACTACTGCACAATCTATTCATGTAACAAAATTACACTTGTTCCACATAAATTTATATAAAAATGTAAAAAAGAAAAAGCCAAAAAATTTCATCAAAGGAAAAACCTGCTAGCCTGAGCAACATGGTGAAACCCTGTATCTACCAAGAATACAAAAATTAGCCAGGGCATGGTAGCATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAATTTGAGGCTTCAGTGAGCCGTGACTGCATCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAACAACAACAACAAAAAAAAACAAAACAAACAAACAAAAAAATTCAGAGGAAAAAACTGCTAACTAATATTGAACTGAAGTTAATAATATGCAAG
Task1_train_3147
A genomic change on Chromosome 2 affects APOB (apolipoprotein B). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Familial hypobetalipoproteinemia 1
TCCAAAGGCAGTGAGGGTAGTTTTCAGCATGCTTTCTTTAGGAAGGTAGTTATTTGGATCAAATATAAGATTCCCTTCTATTTTGGCTGAGGCTGGGTCAAGTGATGGAAGAGAAACAGATTTGTAGAGTTGATAGTTCCGAGAGAATTTTCTGAAGTCCATGACAGTTGGAAGTTGAGATTCTTTCAGAGCTTCTTTCACTAACTTTTTCAGACTAGATAAGAAGAAGTATATTTTGAGCTGACACACCATGTTATTATCCTTTGACTCTTGCACCCCAAGTAAATATGGATTTCCAATCACTACCAAAATGTCTTGATTTCATTGACCCTAAGTCTTTGGGTCTAGATCTGCTACACATTTGCACAAGTGTTTGTTTCAGAAGCAAGGGCAGACAGTGGCTATGCCAAAACCTAGGGTTGGAATTCCAGCTCAGGGCCCTCAGTGGTATATGGGGTGAATAGCTCTTACTTACTCTTGGATATCCAATTCTTCTGAGTTCAAGATATTGGCAATATGGGAAGCCACAAAGTTCTTCACTTGCTCATTCTGTTCCCATGGTAGAATTTGGACAATTTTGTTAATATCTGCCTGTGAAGGACTCCTCATCAACATAAGATAGGCAGCCAGTCGCTTATCTCCCGGAGAAGCATCATCAAGGAAAGTCTGAAGAAGAACCTCCTGGTCCTGCAGTCAAAAGAGGAGATGGTTATCACTGTCCTGTGGTCAGAACACAGAACATGCCTGGCAAACACTGGCATTGTCTGCTAGCTCTTTCTTAAGCACAGGTCTAATTTCTCTGTAATCGTTCTTCAAATGCTGGTATTGAATCTTCTTGCCAGTGTTTCCTAGAGCACTATCAAGTAAGGGTTCCCAGAAAAAGCCTGTGGAATGCCTGTTGAATTCAATTCCATTAAAACACATAAATTATGGCCAAGTTGTGATTTGTTTGGAGATCCACCACTAAGTGAAAATCAAGTTGTTTTAACGTAAGTTATTTTAATGTGAGGATAAAGATGAGAAGGGGTAGTAAGAGTTTGGGGCTAATAAATAGGGTAGTTTCCAAAGTTCTGGAGTCTTTGCACCTAAGAGGGGGCCAAGTTGGCTATCCTAGCCTAAGCTTATTGGGGGAAAATTAAGCATGTTTTTCCATGATGAGAGGGATGGTCAATCTGGTAGGTGGACGGTAGGAAGCAAAAACATCTCACGTTCTGCATGTTGACATAGCAGCAAAGTCAAGTATTTCTCTCACGTCACATACTGCTAGGCAGTCAAGTCAATAGGCTTGTTGAAATTTGCAATTAGAAAACAGTAGAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGCAAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATGGCAAAACTCCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTAATGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGAGAGAATTGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGATTCCATCTCGAAAGAAGGAAGGAAGGAAGGAAAGAAGAAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGAAACAGCAGAATAAAGTCAGTAGATGAAATCTAGAGTCTCATTCCCCTAGTACCTTCCAAATCCTTGTTAATAAACTTTCACTTTCAGACCTCTTCTTGTGGACTTTACCTTGTCTTTAGGCTCCATTTTCCGCAGAGCCTGGATGGCAGCTTTCTGGATCATCAGTGATGGCTTTGTACTTTGGACACATTTCAGGATTGAAGACTTGAGTTCTGGAGTTAACTGCTCCATGGTTTGGCCCATATTTCCAATGACCTGCATTGAAGAAAAGAAACAAGAACCCATCAGGGTGCAGGAGAGGGAAGTAAAAGGTGTCCAGGAAAAGTGCTTCTGAAATGATGTATGTCATATAAAAGACTGAGATTACCCGCAGAATCAAATAGGTGTAATCTTCATCCCCAGTGCAGTCATCTTGAATCTGTTCCATCAGGTAATTAGCAATGTCCAGCAGCTCCTGGGTCCCTGTAGGGTTTGTCTTATGATAGCTACAGAATAAGAGAAGAGAGTCAGGACTTGGTAACCCCAGTTAGGTTTGTCTTAAAACCCAAACTTGTGAATTAGAAAAAATAATTATAAAATTCATATGGAATCCAAAAAGAGCCTGAATAGCTGAAGCAATTTTAAGCAAAAAGAACATAGCTGGAGGCATCACATTACCTGACTTCAGATTATACAACAAGGCTATAGTAATCTAAACAGCATGGTACTGGCATAAAAATAGACACATAGATCAATGGAACAGAATACTGAACCCAGAAATAAAGTCACATACTTACAGTCAACGGATCTTTGACAAAATTGACAAAAACATACACTAGGGAAAGGACACCCTTTTCAATAAGTGGTGCTGGGAAAGATGGATTGCCATATGCAGAAGAATAAAACTGGACTCCTATCTGTCACCATATAAAAAAATCAACTCAAGATGGATCAAAGACTTAAATATAAGACCTGAGACTATAAAAATGCAAGAAGAAAACCTAGGGAAAACTTCTCTGGACATTGGCCTAGACAAAGAATTCGTGAATAAGACCTCAAAGGCAAAGACAACAAAAACAAAAAATAGACAAATAGAACTTAATTAAAGTAAAAAGTTTCTGCACAGTAAAACAAATAATCAACAGGGTGGTAACCTGCAGAATGGGAGAAAATATTTGCAAACTATTCATCCAATGGGGTACTAATATCCGGAATGTACAAGCAATTCAAACAACTCAACAAAAAAATCCCCCAAATAATCCCATTAAAAAGTAGGCAAAGGACATGAATAGACATTTTTTTCAAAAGAAGACATACAAATGGCAATAGGCATATGAAAAAATGCATAACATTACTAATCATTAGAGAAATGTAAATTAAAACCACAATGAGATAACATCTTACAAGAGTCAGGAGGGCCATTATTCAAAAGACAAAAAATAACAGTTGTTGGTGAGGATACAGAGAAAAGGAAACAGTTAATCACTGTTGATGGGATTGTAAATAAGTACAACCACTATGGAAAACAATACAGAGATTTCTCAAAGAACTAAAAATAGAACTACCAATAAATCCAACAATCCCATTACTGGGTATATACCTAAAGGAAAAGAAATCATTATATCCAAAGGAAACCTGCACCCATATGTTTATCACAGCACTATTCACAATAGCAAAGACATGGAATCAACCTAAGTGTCTATCAATGGACGATTGGATTAAAAATGTGAAATGTATAGGCAATAAAATACTATTCGGCCATAAAAAGAATAAAATCATGTCATTTGCAGCAACATGGATGGAACTGGAGGTCATTGTCTTAAGTGAAACAGGACAGTCACAGAAAGACAAATATTGCGTGTTGTCATTTATAAGTGGGAGTGAAATAATGTGCACACAAGGACATAGTGTGTGGAATGATAGACAATTGAGACTCAGAAGGTGTGGAAGTGGAGGGAGATGGATGGTGAGAAATTACTTAGTGGGTACACTATATGTTGTCTGGGTGATGGATACCCTGAAAGCCCTGACTTAACTACTGCACAATCTATTCATGTAACAAAATTACACTTGTTCCACATAAATTTATATAAAAATGTAAAAAAGAAAAAGCCAAAAAATTTCATCAAAGGAAAAACCTGCTAGCCTGAGCAACATGGTGAAACCCTGTATCTACCAAGAATACAAAAATTAGCCAGGGCATGGTAGCATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAATTTGAGGCTTCAGTGAGCCGTGACTGCATCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAACAACAACAACAAAAAAAAACAAAACAAACAAACAAAAAAATTCAGAGGAAAAAACTGCTAACTAATATTGAACTGAAGTTAATAATATGCAAG
TCCAAAGGCAGTGAGGGTAGTTTTCAGCATGCTTTCTTTAGGAAGGTAGTTATTTGGATCAAATATAAGATTCCCTTCTATTTTGGCTGAGGCTGGGTCAAGTGATGGAAGAGAAACAGATTTGTAGAGTTGATAGTTCCGAGAGAATTTTCTGAAGTCCATGACAGTTGGAAGTTGAGATTCTTTCAGAGCTTCTTTCACTAACTTTTTCAGACTAGATAAGAAGAAGTATATTTTGAGCTGACACACCATGTTATTATCCTTTGACTCTTGCACCCCAAGTAAATATGGATTTCCAATCACTACCAAAATGTCTTGATTTCATTGACCCTAAGTCTTTGGGTCTAGATCTGCTACACATTTGCACAAGTGTTTGTTTCAGAAGCAAGGGCAGACAGTGGCTATGCCAAAACCTAGGGTTGGAATTCCAGCTCAGGGCCCTCAGTGGTATATGGGGTGAATAGCTCTTACTTACTCTTGGATATCCAATTCTTCTGAGTTCAAGATATTGGCAATATGGGAAGCCACAAAGTTCTTCACTTGCTCATTCTGTTCCCATGGTAGAATTTGGACAATTTTGTTAATATCTGCCTGTGAAGGACTCCTCATCAACATAAGATAGGCAGCCAGTCGCTTATCTCCCGGAGAAGCATCATCAAGGAAAGTCTGAAGAAGAACCTCCTGGTCCTGCAGTCAAAAGAGGAGATGGTTATCACTGTCCTGTGGTCAGAACACAGAACATGCCTGGCAAACACTGGCATTGTCTGCTAGCTCTTTCTTAAGCACAGGTCTAATTTCTCTGTAATCGTTCTTCAAATGCTGGTATTGAATCTTCTTGCCAGTGTTTCCTAGAGCACTATCAAGTAAGGGTTCCCAGAAAAAGCCTGTGGAATGCCTGTTGAATTCAATTCCATTAAAACACATAAATTATGGCCAAGTTGTGATTTGTTTGGAGATCCACCACTAAGTGAAAATCAAGTTGTTTTAACGTAAGTTATTTTAATGTGAGGATAAAGATGAGAAGGGGTAGTAAGAGTTTGGGGCTAATAAATAGGGTAGTTTCCAAAGTTCTGGAGTCTTTGCACCTAAGAGGGGGCCAAGTTGGCTATCCTAGCCTAAGCTTATTGGGGGAAAATTAAGCATGTTTTTCCATGATGAGAGGGATGGTCAATCTGGTAGGTGGACGGTAGGAAGCAAAAACATCTCACGTTCTGCATGTTGACATAGCAGCAAAGTCAAGTATTTCTCTCACGTCACATACTGCTAGGCAGTCAAGTCAATAGGCTTGTTGAAATTTGCAATTAGAAAACAGTAGAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGCAAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATGGCAAAACTCCATCTCTACTAAAAAATACAAAAATTAGCTGGGTGTAATGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGAGAGAATTGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGATTCCATCTCGAAAGAAGGAAGGAAGGAAGGAAAGAAGAAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGAAACAGCAGAATAAAGTCAGTAGATGAAATCTAGAGTCTCATTCCCCTAGTACCTTCCAAATCCTTGTTAATAAACTTTCACTTTCAGACCTCTTCTTGTGGACTTTACCTTGTCTTTAGGCTCCATTTTCCGCAGAGCCTGGATGGCAGCTTTCTGGATCATCAGTGATGGCTTTGTACTTTGGACACATTTCAGGATTGAAGACTTGAGTTCTGGAGTTAACTGCTCCATGGTTTGGCCCATATTTCCAATGACCTGCATTGAAGAAAAGAAACAAGAACCCATCAGGGTGCAGGAGAGGGAAGTAAAAGGTGTCCAGGAAAAGTGCTTCTGAAATGATGTATGTCATATAAAAGACTGAGATTACCCACAGAATCAAATAGGTGTAATCTTCATCCCCAGTGCAGTCATCTTGAATCTGTTCCATCAGGTAATTAGCAATGTCCAGCAGCTCCTGGGTCCCTGTAGGGTTTGTCTTATGATAGCTACAGAATAAGAGAAGAGAGTCAGGACTTGGTAACCCCAGTTAGGTTTGTCTTAAAACCCAAACTTGTGAATTAGAAAAAATAATTATAAAATTCATATGGAATCCAAAAAGAGCCTGAATAGCTGAAGCAATTTTAAGCAAAAAGAACATAGCTGGAGGCATCACATTACCTGACTTCAGATTATACAACAAGGCTATAGTAATCTAAACAGCATGGTACTGGCATAAAAATAGACACATAGATCAATGGAACAGAATACTGAACCCAGAAATAAAGTCACATACTTACAGTCAACGGATCTTTGACAAAATTGACAAAAACATACACTAGGGAAAGGACACCCTTTTCAATAAGTGGTGCTGGGAAAGATGGATTGCCATATGCAGAAGAATAAAACTGGACTCCTATCTGTCACCATATAAAAAAATCAACTCAAGATGGATCAAAGACTTAAATATAAGACCTGAGACTATAAAAATGCAAGAAGAAAACCTAGGGAAAACTTCTCTGGACATTGGCCTAGACAAAGAATTCGTGAATAAGACCTCAAAGGCAAAGACAACAAAAACAAAAAATAGACAAATAGAACTTAATTAAAGTAAAAAGTTTCTGCACAGTAAAACAAATAATCAACAGGGTGGTAACCTGCAGAATGGGAGAAAATATTTGCAAACTATTCATCCAATGGGGTACTAATATCCGGAATGTACAAGCAATTCAAACAACTCAACAAAAAAATCCCCCAAATAATCCCATTAAAAAGTAGGCAAAGGACATGAATAGACATTTTTTTCAAAAGAAGACATACAAATGGCAATAGGCATATGAAAAAATGCATAACATTACTAATCATTAGAGAAATGTAAATTAAAACCACAATGAGATAACATCTTACAAGAGTCAGGAGGGCCATTATTCAAAAGACAAAAAATAACAGTTGTTGGTGAGGATACAGAGAAAAGGAAACAGTTAATCACTGTTGATGGGATTGTAAATAAGTACAACCACTATGGAAAACAATACAGAGATTTCTCAAAGAACTAAAAATAGAACTACCAATAAATCCAACAATCCCATTACTGGGTATATACCTAAAGGAAAAGAAATCATTATATCCAAAGGAAACCTGCACCCATATGTTTATCACAGCACTATTCACAATAGCAAAGACATGGAATCAACCTAAGTGTCTATCAATGGACGATTGGATTAAAAATGTGAAATGTATAGGCAATAAAATACTATTCGGCCATAAAAAGAATAAAATCATGTCATTTGCAGCAACATGGATGGAACTGGAGGTCATTGTCTTAAGTGAAACAGGACAGTCACAGAAAGACAAATATTGCGTGTTGTCATTTATAAGTGGGAGTGAAATAATGTGCACACAAGGACATAGTGTGTGGAATGATAGACAATTGAGACTCAGAAGGTGTGGAAGTGGAGGGAGATGGATGGTGAGAAATTACTTAGTGGGTACACTATATGTTGTCTGGGTGATGGATACCCTGAAAGCCCTGACTTAACTACTGCACAATCTATTCATGTAACAAAATTACACTTGTTCCACATAAATTTATATAAAAATGTAAAAAAGAAAAAGCCAAAAAATTTCATCAAAGGAAAAACCTGCTAGCCTGAGCAACATGGTGAAACCCTGTATCTACCAAGAATACAAAAATTAGCCAGGGCATGGTAGCATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTCAGCCCAGGAATTTGAGGCTTCAGTGAGCCGTGACTGCATCACTGCACTCCAGCCTGGGTGACACAGTGAGACCATCTCAAAAAAACAACAACAACAAAAAAAAACAAAACAAACAAACAAAAAAATTCAGAGGAAAAAACTGCTAACTAATATTGAACTGAAGTTAATAATATGCAAG
Task1_train_3148
This variant impacts the gene PTRHD1, LOC129933272 (peptidyl-tRNA hydrolase domain containing 1| ATAC-STARR-seq lymphoblastoid active region 15435) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
Pathogenic; Parkinsonian disorder
TAAGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACCATGCCCGGCCCCTAGTGGAAGGATTTCTAAAAGCACATCCACTTCCACTTTCCTCCACCCCTCCCACTCTACCTCACTGAAACCTAGAGGGGTTTTCCTTCTGCTGGGATGGCTCCCACTTGTTTATTAAAGGGAGAGTACAATATTCTCTAACATCCTTCTGAAATTGTTTCTGGGTCATCCTTACTGCCAATTCACCCATGCTGAATCCCATTCCAGGAAGTATTAAAACGATCACTCAGAAAATTATTATTTTTGTGTTATTTTGCATAAAGTTTATCTCTTACCTATGAAGGCAGAAGCCACTAAGCTACTCAGAGGCTTGTTTTAATAAATTAGAGAATGCCAGTATTGCGACTCTTAACCTGCTGAGTCCTTCTGGCAGAGCTCTGCTGGAGGACTCATCAGCTTCTTCAGCCTCGGGCAGCAGCAGAGCATAGTGAGATACAGTGAGGCTCTGGAATCAGACTACTGGACTCCAAACTCTTGCTGACTGTGTGATCGTGGATAAGTTAGGTGACTTCGCTGGCCTCTTCGTCCCTTTATAAAACAGGAATAATGCTTCCTAATGGGGATCAATGAAATCAGGCTTGGACCTGTGCCTGGCACACACTAAGCACTCAATAAATGTAGTTAATCCTGGTATTTTCTTATATTTTATTGGCCCTTCTGACTACAGCGGCACCTCAATGTAATCAGTAGCGACTCCTAAGTCCCTTTCTTGAGTCATGACTAACAACTAAGAATCATGAGACCCTCTTTTAAACTCAGGGGAGTCACTTAATCCCTGTAGGCTTCAGAGAGTTTCACCTGCGACAAGAGGAGTCTAACCTGATTTCTTGAGACCTCTTACTAGGAAGAAAATCTAAGTGAAAAGCCAGCAGCTTCTGTTCTGCCTACACAGATTCTCAAGGCATTTTTCCTACAGGTTACCGCTTGATGTTTCACTATCCAGCAGCAATTTTTCTCTTGAAAGATAATCTATCTTTGTCAGTTACCCATGAAGGGATTACTCCACCCCTCCACCTGAGTTCTGGCTTAAAGCCGTTTTTCCTTATTATAAAAAGCCGTTTATTATTAAAGCCGTTTTTCCTTATTATAAAATATGTGCTTAAGGTAGAAAATTTTAAAAATACAGATTAAGCATTAGGAAATAACCAAAATCTCACCATGCACTACTTAATATGTAGATGTATTTCTTTAGTTTTTCCTTTCAAAGTCTGGATCATTCTGTATATATAGTTCAGTTAGCTTCGCATCATGAGCACTCTTCCCGACCACTAAATATGCTTCAAAACCATAAGGGCTCCCATGAATATCCTTGTGCAAAGCTCTTTGGGTGCATCTGATTATTTTCTTAGGCTACATCTCTAGCAGCAGGATAGAGAGTCAAAGGGTAAGGGTGAGATTTGTTTGGTCATCTGCAAACAGAACCTGACTGCTATTTTAAAAGGTGTACCGATTTACACACCTGGTGCCTGGTCTAGCTGAAGCTAGGTTCAATTTATACTAACGTTTTTAGTATTTATTTTCAAATAATTTGGCGTCCTACCCAGGTAAATACTCAGTTTGACTTCACTTTGCACTGTCCCTTCGGGCTCGGTTTTGCAGGAGGACAGCACTTTGGGGCATGGCTTTAAAAAGTCGGCCAGTGCACAGGCGGAACAGCGGGGACACAGGAGCCACCACTTTACCGCGAGCCCAGCAGGGGGCGGAGGACTGCTGTCCACTCTTCACACAGTCAGGCCCTTCCCAAGGGCGCACCTCCAGGGAAACAGCTCCAGTCTAAATGTTAACGATCACCCCAACTCCCGCCGCACCCACTCCCCGCAGCCAGGCCTTCGGACCGAAGACCACACCCACTTCCGCCCTCGATGTCTCAGCACCTCCCCCTCCGCCCGAGTGCCTCACCTCGAGGACCACTTTGCGCATGCGCCCCAGCTCTTGGAGGTAAGCGGCTGTGTGCGGGTGGTCGCGGTGAGTGTGCAAGGCCGCGGTGGCCGCGTGACAAGCCTGCGCTACCAGTGCGCCCGCCGGCCAGGAGAACGGAGCTTGTGATAGATCCTTTCGTAACACCAAGTATTGTACCAGGACCTGCGGCTCCGCCCCAGAGGCCGCCATCTTCCTGACCACCCGAAAGGCCGGACCTACTCCCCGGTGCATCTTGGGATCAGGGCGGGGCCCTGAGCGCCGCCATGCTTTTGTACGGCAGGATCGCAAAGCACGCCGGGACCGGTTGGTTTGGTTTTGAAGACGTGGATGGCGGGAATTCTCGCTTCTGGCCTGGGTGAGCTAGAAGGGAGAAGGTAGGGGAAAGACCCATTGTCGGACCGGACCGTGGCCAGGGTGGCGGGCTGAACGGCCTTCTTAAAACTCCTTCCGTGGCCGGGAAGCCCGCTGGACCAGAGTAGCCGTGGCCTCGGGAGCGCGCCGGGGCCGCGGGATGGGCGCGGGGGTGGGCATGGACTCTGCTGGCTCGGACGATGGGAGAGGGCGGGCGGCTCAGGAAAGGGGATCCTAGCCGTGACATTTGTGTCATCCGCGGCCCAGGGGTTGTGCCTGAGTGGTGTGTGCCCTGCCGTCTGGGTTTGAATGGGACTAGATGTGATGTGACTGTTGCCATTTTTCTTTTATTAGCAAGGACATTGGAGTCCCTATCACCGGTTGCCTAGACAACTTCATGGGAAGGCCCTTGGGAATCTGAGATGGAGCAGGCGAACCCTTTACGTCCAGATGGCGAGTCCAAAGGAGGTATTCAGAGGGTCGCCGCCTCCTTCCTGCTGCTGCCCAAAGATGACCCGCAGGCTGAGAGAGCCCTTTCCTCCTGGAACTGACGTGGGACCTGGCCTGTTTGGGAGCAGAATAGTGAAAGGAACTAACATTGAAGACAAAGGGACAGGCAGCCAAGATTATTCGAGGAGGAAAAATGGCTTCGTTTCTAGGCTCCCACCCCTTTTGAAACGGATAAGTTGCATCCATCATATGCTCAGTGTTTATATTCTGAACTGCGGTTCTAGCCAGGGAGGTCCCTTTCCTCTCCCCGGATTTTTTGGGCCATGTATGCATTACTCTTGAGGGAGGGCCAGTGTAGGGCAGTGACTTTAGTGTTGGCTAGAACTGGTTTTGAGTGTTGGCTCTGCCATGATAAATATTGTGACCTTAGGCAAGTCACTTTATTCTCTGCCTCTGTTTCTTCATCTGGAAAATGGAGGTGAAAATAGCACTGTAGTTGTGGTTGTGGAAAAAGTATTTCTTTTGTGGTGGAAAAGTATTGAACTCAGACTTTTCAAGTGAAGCATTTAGCACATGTCTAATATATAGGAAATATTCAATGAAAGGCTTAATTCTTTACATACTTTGTGTCTTAAAATGTAGAAGGTGTTTAAAGAATGCTTGTTAGAGTTGCTTAGAATTACGAAACTATTACTTTTACTTAGTCCTTAGTCAATCCTTTGGAAACTGAGATTTGCGTTTGAATTTCTGTCCAGGAGTAAGTTGCTTTCTTCTTTAGTGCCTAGTAATATTTGTGGACAGTTCTGGTTTTGTGTGACTTTATGTTCTTTGCTACTAATACTTTTTAGAACTTTGAAATACTTACTCAAGCCTGATGCCTAAATCCAAAGGGTTCTACGTTAGTACTTTGGGAAAGCTTGCCATAAAACCTAACTTAAATTACAGTTTTAAAAAGAATTTCTGAGCGCGTCAGTGAATTTGGTTATCCTATTTTTCTCTGGGTCATCATTATCATTGATAACAGAGAAGTAACTATATTCAGCCTAAGATGACTTAAGCTGAGACTTTAGATAATAAAAGTATATGGGGTAAGATTTATTGTTACTTTAAGACTAAAAATAAGTTTGGTGACTTTATGTAGTGGAAACATGCTACACTCAGGAGTAACCTGTTCTCTAGTCCAGGCCTTATTTCATTTCTGTTAAAGTAAGTGATGAGGTGGAAGTTTTGGATTATCAAGAGACTTAGACCAGTCTCCTTATTCTCTACCCAAAACAATATTTAAACACTTAGCTGTTACCCATACTGGTTTTATCCCTCTGC
TAAGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACCATGCCCGGCCCCTAGTGGAAGGATTTCTAAAAGCACATCCACTTCCACTTTCCTCCACCCCTCCCACTCTACCTCACTGAAACCTAGAGGGGTTTTCCTTCTGCTGGGATGGCTCCCACTTGTTTATTAAAGGGAGAGTACAATATTCTCTAACATCCTTCTGAAATTGTTTCTGGGTCATCCTTACTGCCAATTCACCCATGCTGAATCCCATTCCAGGAAGTATTAAAACGATCACTCAGAAAATTATTATTTTTGTGTTATTTTGCATAAAGTTTATCTCTTACCTATGAAGGCAGAAGCCACTAAGCTACTCAGAGGCTTGTTTTAATAAATTAGAGAATGCCAGTATTGCGACTCTTAACCTGCTGAGTCCTTCTGGCAGAGCTCTGCTGGAGGACTCATCAGCTTCTTCAGCCTCGGGCAGCAGCAGAGCATAGTGAGATACAGTGAGGCTCTGGAATCAGACTACTGGACTCCAAACTCTTGCTGACTGTGTGATCGTGGATAAGTTAGGTGACTTCGCTGGCCTCTTCGTCCCTTTATAAAACAGGAATAATGCTTCCTAATGGGGATCAATGAAATCAGGCTTGGACCTGTGCCTGGCACACACTAAGCACTCAATAAATGTAGTTAATCCTGGTATTTTCTTATATTTTATTGGCCCTTCTGACTACAGCGGCACCTCAATGTAATCAGTAGCGACTCCTAAGTCCCTTTCTTGAGTCATGACTAACAACTAAGAATCATGAGACCCTCTTTTAAACTCAGGGGAGTCACTTAATCCCTGTAGGCTTCAGAGAGTTTCACCTGCGACAAGAGGAGTCTAACCTGATTTCTTGAGACCTCTTACTAGGAAGAAAATCTAAGTGAAAAGCCAGCAGCTTCTGTTCTGCCTACACAGATTCTCAAGGCATTTTTCCTACAGGTTACCGCTTGATGTTTCACTATCCAGCAGCAATTTTTCTCTTGAAAGATAATCTATCTTTGTCAGTTACCCATGAAGGGATTACTCCACCCCTCCACCTGAGTTCTGGCTTAAAGCCGTTTTTCCTTATTATAAAAAGCCGTTTATTATTAAAGCCGTTTTTCCTTATTATAAAATATGTGCTTAAGGTAGAAAATTTTAAAAATACAGATTAAGCATTAGGAAATAACCAAAATCTCACCATGCACTACTTAATATGTAGATGTATTTCTTTAGTTTTTCCTTTCAAAGTCTGGATCATTCTGTATATATAGTTCAGTTAGCTTCGCATCATGAGCACTCTTCCCGACCACTAAATATGCTTCAAAACCATAAGGGCTCCCATGAATATCCTTGTGCAAAGCTCTTTGGGTGCATCTGATTATTTTCTTAGGCTACATCTCTAGCAGCAGGATAGAGAGTCAAAGGGTAAGGGTGAGATTTGTTTGGTCATCTGCAAACAGAACCTGACTGCTATTTTAAAAGGTGTACCGATTTACACACCTGGTGCCTGGTCTAGCTGAAGCTAGGTTCAATTTATACTAACGTTTTTAGTATTTATTTTCAAATAATTTGGCGTCCTACCCAGGTAAATACTCAGTTTGACTTCACTTTGCACTGTCCCTTCGGGCTCGGTTTTGCAGGAGGACAGCACTTTGGGGCATGGCTTTAAAAAGTCGGCCAGTGCACAGGCGGAACAGCGGGGACACAGGAGCCACCACTTTACCGCGAGCCCAGCAGGGGGCGGAGGACTGCTGTCCACTCTTCACACAGTCAGGCCCTTCCCAAGGGCGCACCTCCAGGGAAACAGCTCCAGTCTAAATGTTAACGATCACCCCAACTCCCGCCGCACCCACTCCCCGCAGCCAGGCCTTCGGACCGAAGACCACACCCACTTCCGCCCTCGATGTCTCAGCACCTCCCCCTCCGCCCGAGTGCCTCACCTCGAGGACCACTTTGCGCATGCGCCCCAGCTCTTGGAGGTAAGCGGCTGTGTGCGGGTGGTCGCGGTGAGTGTGCAAGGCCGCGGTGGCCGCGTGATAAGCCTGCGCTACCAGTGCGCCCGCCGGCCAGGAGAACGGAGCTTGTGATAGATCCTTTCGTAACACCAAGTATTGTACCAGGACCTGCGGCTCCGCCCCAGAGGCCGCCATCTTCCTGACCACCCGAAAGGCCGGACCTACTCCCCGGTGCATCTTGGGATCAGGGCGGGGCCCTGAGCGCCGCCATGCTTTTGTACGGCAGGATCGCAAAGCACGCCGGGACCGGTTGGTTTGGTTTTGAAGACGTGGATGGCGGGAATTCTCGCTTCTGGCCTGGGTGAGCTAGAAGGGAGAAGGTAGGGGAAAGACCCATTGTCGGACCGGACCGTGGCCAGGGTGGCGGGCTGAACGGCCTTCTTAAAACTCCTTCCGTGGCCGGGAAGCCCGCTGGACCAGAGTAGCCGTGGCCTCGGGAGCGCGCCGGGGCCGCGGGATGGGCGCGGGGGTGGGCATGGACTCTGCTGGCTCGGACGATGGGAGAGGGCGGGCGGCTCAGGAAAGGGGATCCTAGCCGTGACATTTGTGTCATCCGCGGCCCAGGGGTTGTGCCTGAGTGGTGTGTGCCCTGCCGTCTGGGTTTGAATGGGACTAGATGTGATGTGACTGTTGCCATTTTTCTTTTATTAGCAAGGACATTGGAGTCCCTATCACCGGTTGCCTAGACAACTTCATGGGAAGGCCCTTGGGAATCTGAGATGGAGCAGGCGAACCCTTTACGTCCAGATGGCGAGTCCAAAGGAGGTATTCAGAGGGTCGCCGCCTCCTTCCTGCTGCTGCCCAAAGATGACCCGCAGGCTGAGAGAGCCCTTTCCTCCTGGAACTGACGTGGGACCTGGCCTGTTTGGGAGCAGAATAGTGAAAGGAACTAACATTGAAGACAAAGGGACAGGCAGCCAAGATTATTCGAGGAGGAAAAATGGCTTCGTTTCTAGGCTCCCACCCCTTTTGAAACGGATAAGTTGCATCCATCATATGCTCAGTGTTTATATTCTGAACTGCGGTTCTAGCCAGGGAGGTCCCTTTCCTCTCCCCGGATTTTTTGGGCCATGTATGCATTACTCTTGAGGGAGGGCCAGTGTAGGGCAGTGACTTTAGTGTTGGCTAGAACTGGTTTTGAGTGTTGGCTCTGCCATGATAAATATTGTGACCTTAGGCAAGTCACTTTATTCTCTGCCTCTGTTTCTTCATCTGGAAAATGGAGGTGAAAATAGCACTGTAGTTGTGGTTGTGGAAAAAGTATTTCTTTTGTGGTGGAAAAGTATTGAACTCAGACTTTTCAAGTGAAGCATTTAGCACATGTCTAATATATAGGAAATATTCAATGAAAGGCTTAATTCTTTACATACTTTGTGTCTTAAAATGTAGAAGGTGTTTAAAGAATGCTTGTTAGAGTTGCTTAGAATTACGAAACTATTACTTTTACTTAGTCCTTAGTCAATCCTTTGGAAACTGAGATTTGCGTTTGAATTTCTGTCCAGGAGTAAGTTGCTTTCTTCTTTAGTGCCTAGTAATATTTGTGGACAGTTCTGGTTTTGTGTGACTTTATGTTCTTTGCTACTAATACTTTTTAGAACTTTGAAATACTTACTCAAGCCTGATGCCTAAATCCAAAGGGTTCTACGTTAGTACTTTGGGAAAGCTTGCCATAAAACCTAACTTAAATTACAGTTTTAAAAAGAATTTCTGAGCGCGTCAGTGAATTTGGTTATCCTATTTTTCTCTGGGTCATCATTATCATTGATAACAGAGAAGTAACTATATTCAGCCTAAGATGACTTAAGCTGAGACTTTAGATAATAAAAGTATATGGGGTAAGATTTATTGTTACTTTAAGACTAAAAATAAGTTTGGTGACTTTATGTAGTGGAAACATGCTACACTCAGGAGTAACCTGTTCTCTAGTCCAGGCCTTATTTCATTTCTGTTAAAGTAAGTGATGAGGTGGAAGTTTTGGATTATCAAGAGACTTAGACCAGTCTCCTTATTCTCTACCCAAAACAATATTTAAACACTTAGCTGTTACCCATACTGGTTTTATCCCTCTGC
Task1_train_3149
A genomic change on Chromosome 2 affects DNMT3A (DNA methyltransferase 3 alpha). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; not provided
TCCCATTATAAAATATATATCTCTATATGCCACATATCTACACCCCATCTACCCAGGCAAGCACCTGCCCGTCGGGCCCTCACCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTA
TCCCATTATAAAATATATATCTCTATATGCCACATATCTACACCCCATCTACCCAGGCAAGCACCTGCCCGTCGGGCCCTCACCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAGAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTA
Task1_train_3150
This alteration in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
TCTATATGCCACATATCTACACCCCATCTACCCAGGCAAGCACCTGCCCGTCGGGCCCTCACCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCC
TCTATATGCCACATATCTACACCCCATCTACCCAGGCAAGCACCTGCCCGTCGGGCCCTCACCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGGAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCC
Task1_train_3151
A genetic alteration is present in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCAGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
Task1_train_3152
This gene mutation involves DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
Pathogenic; Neurodevelopmental disorder
CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCAGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
Task1_train_3153
A genetic alteration is present in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Acute myeloid leukemia
CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCAGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
Task1_train_3154
This mutation occurs in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Inborn genetic diseases
CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCAGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
Task1_train_3155
Consider this mutation in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Is this a benign change or a disease-causing variant?
Pathogenic; Neoplasm
CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCGGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
CCCTGGAGCCAACAATGCCATCCCTTCCTACTACTGACGCCAGGCCGCCTGCCTTGTAGGAAGTAGAACAAAGTGTTGAGCACTTGGGGCTCCAGGTGCTGCTGACTCGAGGTAAGAGCACAGCTATCATCAGACCAAGTACTAGAAAAGAAATACACACCACTCCAATCACACACACAAGGAGAGAGACGGCCGGTCCTCCCTCCAGCCCTGACACACCCGACTCAAGAGGAGGGGAAGTAGAAGAGAAGAGTGACAAGCCCAGAAGGCAGACCTTGGGGACTCCCTGGCCGCCCAGCTGTCACCATGCCCAGTGGCCCACCTGGCCCGAGGGGTGGGAGCCAGGGCACCAGAGCCACCGCTAACTCAGAAGCACCCTGCTCCCGCACCTTGGTTTGAAACCTAAAGGGAAGGGTGTTGGGTTTTTGTTTTCTTAAAGAAAATCTTAAAACAAACATAATTATAACCAGAACCATAAGAATAATTATAATAAAAGGTGTCATCAGCCTCCCAGTATAAAACTGCAGCCTTTGGAGATGACCAAAAACATCACATTCCAGGGGCCGGGAGCCGCCTTGTGCACAGAGGGGTGGATGGTGGGGGCCTCATAAAAGAACACACAAAAGGCGACTTAGACAGGAAAGCACCAGTACGTTTTGTATGTTTTTTTATTTGCTCCAGGTGGGGTTTTGACTGTCACTTTCCCACACTCTGGATTAGTTCTGATCCCACCACAAGGAGCCCTCGAATTGGCTAAAGTGAGAAACTGGGCCTGAAGACTCCGTACCCTCTGCCATCTTGCCGAGGGAGTCTCCTTTTAGAAAACAATCAAAGGGTTATTGCATGAGTCTGGATGAATCCCACTCTCAGCTGTCCACGGGCCCGACCACCTCATCTAGCCCCCTTTTTGGCAGGGAGAACCTGGCTCCCAAGTTCTCCTCCTTCACTTCGTTACAAACCAAGGGGAAGAGCCCACCGTGAGAACGCGCCATCTGCAAGCTGTCTCCCTTTCTCCATCCTTGGTGAAACCCTTTGCGCAGAAGGCAACGTGGAAGCTGATGTTTTTACTCATCTCGCTGTTTGAAAGCACCATTATGAAGTCGGGTTGTACAGTAGTTAACAGTACCTTTTATATATATATCTCATATCTATCATATATATATAAACTGTAAACAAGAGGTAACAGCGGCTTCTAGAAACTGATTTTCTTCAAGGTTTCCTGTGTGGTAGGCACCTGAAATACTGTAGAAAAATGTCTTGTGTGGTGTTCTCGTCTCCCTGCTGCTAACTGGGTTCTGTTTTGCGTGACCAGGAATGGTGCTGGCACGACAGCTCAGTGGCTGGGAGGGAATGCTGCCGCCTGAGTGTCTCTCTCTTTCCGTCCCCTGCTTGTGCTCCTATCTGATCAGGCTAGAGACAACAAAAAAAAGATATATAGTAAAAAAAAAAACCCAAAAAAAAAAAACAAAAAACAAAAAAAAAAACAACCCAATATATAGATTTCTATAGAATTTCCTTTTTTCCTCTCTCCCACCTTTCCTCTGCAAGGTATTGTTACTATTTTTTGTTACTGATTTTTGCTGCAATAACCTTCTTGTTTCAGTCACAGCAAGAAACAAAACCCAAACAAACAGAAAACCCCTCTGAAAAGAGTAGAAAATAAAAGGTCTGACCGAAAAAAAAGGGAAGGGGGAGGAAGGGAAGGGAGCTTGGTTTTGTTTTTAAATAGGACTGAAGAATAACATTGAAAAATCAGGAGATGATGTCCAACCCTTTTCGCAAGGCAAAGCCCTCCGGTATTTCCGCCTCTGTGGTTTTTGTTTTAAATTCCTTTTTCTCTTCTGGGTGCTGATACTTCTCTCCATCCTCATGTTCTTGGTGTTTTATTATGTTTTGTGTTTTTTGTTTGTTTGTTTAACTTTGTGTCGCTACCTCAGTTTGCCCCCATGTCCCTTACACACACGCAAAATACTCCTTCAGCGGAGCGAAGAGGTGGCGGATGACTGGCACGCTCCATGACCGGCCCAGCAGTCTCTGCCTCGCCAAGCAGCTCATGTTGGAGACGTCAGTATAGTGGACTGGGAAACCAAATACCCTGGGGGAGAAAAGGCAGAGAGGGCAGGGTGAGTGCTGGCCAGACCAGGCTGCCCGGAAGCCGTCTAACCACACAGCAGGACCCGGAGGACCAGCAGCCACCCGAAGTGCAGGGACAGGGGCACTCACACCCACCAACTCCTCTGACGCCTGCTTAGTTCTGCCGAATCTTCTGTCCTTTATAAACAACCCGGCACTCAGATCACCAACCATGTGCCAGGCACTGTGCTGGTTTCTGTGACCTTAAAGGTAGTAAGGTCATCACTGCCTAGAGTTTCACAACCCAGCAGAAATAAGAGTAATTTTGAACAATCCCTCAGAAATACCTCCAGGACACACTCTCTAGTTCTCCTCTCCTGCAGGGTTAGCTCGGCAACGTACACCTGGAGTCTGCATGTAACGAACACGTAGCCCTAGCATCCTCCCCATCAAGAGCAGGGAAGGCGAAAAAGGAGCCGAACTCCTGCCTGACTTCAGAAGCTGAAGGATTTCCTGTTTGCTCTGGTTGTTTGTGTAAATGGTCTCTTTGTCTGGCTAAATCCTAGTTACACTCAGAGAACAAGAAGGTCATCCAGCCCCGAAAGTCCCATTTGCATCAAATCAGGGTGTTGAGGCTGCGAGGTCTGCCTGGCCCTATGCTGGCTTGGTTTACAAAAGACCTATAAAATTGGCACCACAAGTTAAGGTCCTGTCACTGCAGTGGTTCCCTGGGGGATCAGCAGGGTCTCTGGGAGACAAGGCAGCAGGGGATTTCCTAGACTCCTCTTTTTTTTTTTTTTCCCTTTGAGATGGAATCTCTCTGTTGCACAGGCTGGAGCACAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCTCCTGGCCCCTAGACTCCTCTTACTTGGGACCAGCCTTAAAATACCCAGGAGCCTGGGGTGTCAGGAGTCCACCCCAGGAGTCTGCCATGTTGGGAAATGCTTGATAAAACCCACTGTTCCCAGGACGTTTGTGGAAAACAAGTCAGGTGGGAAAGGCAGAGGACCCCCGCAGCAAGCACAGCAATCAGAACAGCCACACCGCAGCCAGATGCCAGCACAACCCGGGTACCTTTCCATTTCAGTGCACCATAAGATGTCCTCTTTCTCATTCATGAAGACAGGAAAATGCTGGTCTTTGCCCTGCTTTATGGAGTTTGACCTCGTAGTAATGGTCCTCACTTTGCTGAACTAGATGAAGAGGAGAAAAGAGGAATAAGCACGAATTCATTCACCAGCCAACACTGGTCATGCGTCTACCAAATATGCCAGGTACTCGCCAAACCCTGACAGGGCCTGGTCCACCCAGGGGGCTGGGTATGGCTCTGAGTGAGCAGAGTTCGCAGGGCAGGAGCCTCCACAGACCCCACAGCCTCACTTTTCTTCCTACTTGGAGGTCACCTGGCCAATCTTAGATCCATCTAGCCACAGACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGTGCGATCTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTAATGCCTCAGACTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTCAGACAGGGTTTCACCGTGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTATTGGGATTATAGGCGTGAGCCACCGCACCCGGCCTAGCCACAGACTTTAGAAGTAGAAGCTGTAGCCACTGTACTTTCCAAGTCTTCCAAA
Task1_train_3156
A mutation found in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Heyn-Sproul-Jackson syndrome
CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATTGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
Task1_train_3157
Mutation context: Chromosome 2, Gene DNMT3A (DNA methyltransferase 3 alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Acute myeloid leukemia
CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATTGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
Task1_train_3158
The following genetic variant occurs in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATTGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
Task1_train_3159
A sequence alteration has been identified in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Is it disease-inducing or harmless?
Pathogenic; Inborn genetic diseases
CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATTGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
Task1_train_3160
Assess the clinical impact of this variant on gene DNMT3A (DNA methyltransferase 3 alpha), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
CAACAAGCCCTCGATAGCAACTCTACCAAACATGTATGAGATGGGGAAGGTCCTACAACCTCATGGGAATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATTGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCG
Task1_train_3161
This variant impacts the gene DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
AATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTG
AATAGCAAGGAGGGAGATTATTTGACCGAGGCCAGGTGAAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCAATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTG
Task1_train_3162
Given this variant in gene DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
AAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCT
AAATGATGTCTCCTAGTTATACCAAGTATACCAAGCAGCCCACCATGGAGGTTTAACACCCATGACTCAGAACACTCTGGAAAACGCTTCCCTCCACAATGGACAGGGACTGAGCGGCTCTCAGCATGCTTTTGAATTGCCAACTCTGGACAATTTATTTCGCCTAAAAAGCCTTTTTATAATGCCAGTTTTATAACTGATGAAATGAATTTTCTTCATTCCTAGATATTAAAATCTTTATCTGTGTAACCTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGTGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCT
Task1_train_3163
Here is a genetic alteration in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; not provided
CTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAG
CTAACTGAAGAAAATCTCTCCAAAAAAGGACCTGAAGCCAACAAAGTGTGTGATTAGTAAAATTAAGTTAAGCAGAACCCTGAACTTGCATGCAGCCGCTGCAAGATTCCCTCTCCTGGAACAGGCTGTGGCCACAACTCCCCTTCCCAGCCCCAAAGCCATGCCCCATGGCTTTGCCTCAGGAGAATCTAAGAACCAGAGGGCTCGGGACACATCACCAATGTCAGAAAACCAACTACCTAACTCAGCAGCACAGGACTCTTCTTTGGTATAAAGAGAGTACTTTTAAAGGTCCTGCTTTAAGACCACTAGTTGTTGGTTTCAGACGAGTATTTTCTATACCCTGACTCCTCTTCCTCCTCAAGGAAAAGGAAATAAGGAACATGGCAGAGCAGCTAGTCATTCAGCAGAGGCCGGCCAGAGAGGGCCCGGCTCAGGGGCTTCCCCACTATGGGTCATCCCACCTGCAGTCCCAGCCCACAGCCCCCCAGGCCCAGGAGCTTTCACCAACCTGTTCATACCGGGAAGGTTACCCCAGAAGTAGCGGGCCCTGTGTGCAGCTGACACTTCTTTGGCATCAATCATCACAGGGTTGGACTACAAAACAGGAGACGGTTTGAAGATGAGCCAAGGAGGAGCATGAAACAGCGCCGGCATGCTGCTGGGGTCGAGCCTTAAAGCCTCAAAGCCTCTTACTTCTCTCTCAGGAGCCACACACTGGGCTAGCCTGCAGCCTCCAGGAGAAGCTGGAATTACACCTAGCCACATTCCACAAGCTGTCACTGGAACGTTCTAGATCAGCATTGTCCAAATGAACTTCTGCGATGGTGGGTTGTCCTCTACACTGTTCAATTCAGTGGCCACTAGCCCACTAGTACAGGTGGCTATTTTGTACCTAAAATGAGGCCAATGTGATTGAGGAGCTGAATGGTTAATGTTAATGTAAACAGCCGCATGTGGCTGGTGGCTACCATATTGCACAGTGCTGCTCTAGACTACCCAGAGGCTGGGAGAGCCCAGGCTCCAGCGAGTATGGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGATGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAG
Task1_train_3164
This mutation is located in gene DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
GGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCAGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAGCCGGGAAGCCCTTGGCTGGGGGGGCAGGGCAGAGGGGTGGATGTGTCTTCACAATCTCCTAGGACGCTTTCTGCAGTGTCCAGAGTCACATGAAGCAAACAATGCCTGCAGGGTGACCCAGCATCTCCTAAAGGTTTTCCTAAGGAGGGAATGGTTCAAGTATATATTCTATCAGGATGCTTGTCACAGCACTACTTATAATAATAATAAAAAAAATAGTAAATGACCTAATAGGGGTTCGTTAAATAAATTACGGCACTTTGACTCAATGGAACCTTACGCAACACTTACAAATAAAGAATGTAGCTTTGGCCGGGTCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCAGCCTGGCCAACACGGTGAAACACCGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGT
GGGTGTGTTTACCATGAGCCCTGATTAGAACTCAAACAGACGCCTGCTCACACTTACAGTCAGAACACCAGCTCACAGTGTGACCCACCCCAAGACTCAGGAGCACAGGTGGGCTCAAGCTCCCAGAAGGGCCACTCCAAGCACGCCTCTGGCAGCAGAAGCCCTCTGCACGCGGCTCAGACTTGGCTCAGGGTTAAACGGGGACTCACATGATAAGGAATGAAAACTGAGCTAAGTCTTGTTTTCTTCTCAGGTGCCTGTCATGGTACCAGGGAGTGAGGATAGGCCCTTCTTGCTCAGGGAAAACTGATTTTGTCCTCTCAAAGATCCTGGTGTGTAACAAACACCATACAGAATACCCAACCCCAGGAGTCTGGCACCCCACCTGATTGAGTGACAGGTCCTTCAACCCCGGAGGTCCACACCCACAATGCCACCTCTTAGAGTGAGACCACTGGTTCTTTCCGAGGTAGGCCTCTAACCCTGCTTCCTCCCTTTCTATCCAGGAAGCCTGGGGCTTCCCAAACAGGCCCCTTGCAAAGCAGAAGTCACCAGTCCCCAGCTCCACAATGCAGATGAGACAGGATGAAGCAGCAGTCCAAGGTAGAAGCCATTAGTGAGCTGGCCAAACCAAGGTTGCTGGCTATACCTCGAGAAATCGCGAGATGTCCCTCTTGTCACTAACGCCCATGGCCACCACATTCTCAAAGAGCCAGAAGAAGGGGCGATCATCTCCCTCCTTGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGCCCTCTGAGAGGTCGGAAGAGAAAGCCATCAGCTGGGGCTGTCTGCATAGGACAGTGGTGTGGCTCGGGCACGGGGAGGGCACGGGAAGACAGGGTCATCGGGAATAGCTGTCCCAGGGCAGAAATATCCAAGGAGGAAGCCTATGTGCGGAAGCACCAGCTGAGAAGGTGGAGGGGACAGGATGGTACCTACCGTAGAGGCCCTTGCGAGCAGGGTTGACGATGGAGAGGTCATTGCAGGGACTGCCCCCAATCACCAGATCGAATGGGCCCCACTCCTGGATCTGGGAGGATAAAGGCAACGTGATGGGCCTGCTGTCCAGGGACAGAGGCAGACAGGAAGAAAGAGAAATTATCTGTGAACTTGGCAAAGAAGTCCTTTGACACGAAAGAGAGGAGACCCAGCTGCTCTGCAGGCTCACGACCCTAGCTGCAACCATGGACAAGTCCTAAACAAGAACGGGACCAAGTTGGATCATTTCTTAGGCCAATGGGGAAACTAGTATCACCCAGGCAGGCAACACAGCCACCCACTGGGAAGGTGACCCAAGTGGACGGCTGAGTCTGAAGGTACCTGGCATGCTGAGTGTCTTAGGCAGGGTGTCTGGGCCATGTGAATGTCCTCCAGTTGCCCTTCAGGACTCCAGAGGGCCTGTAGTCATGCTTAAGGGAAGACCCTGCCTGAGCCTCCCAGATATGGAAGCTGATAAAGCTATTTGCCAAAAGTATTGGGAGGACAGGAACCTCTCTCTAATCCAAAGAGCTCTACTAGAAACTGTCCAGAAACCAGCCCAGGGAGTAGCCAGAGCTCAAGTAGGCACTATGTTGCCCAAGCTAGTCTTAAACCCCTGGCCTCAAGGGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGCATTATAGGCATGAGCCACCATGCCTAGCCCAAATTCCCATTTCAATTTGCCCTTTACCCTCTCAAGACAGAGGACAAATGGAAGATAAGGAGAAAAAGAGGCTGGGGCAAAGGGTGAAGAGAAAGAGGGCAAATGAACAAAATGAAAGGAGGCAAGGGCTGCCTCCAGGTGCTGAGTGTGCAGGGAGGGGAAGACGGGCTGCGCCCCACAGCATGGACATACATGCTTCTGTGTGACGCTGCGGACGTCCCCGACGTACATGATCTTCCCCTGGTGCCGCACCATGCCCACCGTGATGGAGTCCTCACACACCTCCGAGGCAATGTAGCGGTCCACCTGAATGCCCAAGTCCTTCAGCACCGGGAGCCCTGCACCAGCCAGCAGACAGCACCGTTACTTGGAGCCATCTCCCTGGCACCCTGGTCTCGGCAGGTGAGCCTGCTGGCCAACAGGACCCATGGGGTCAGCTGTAGGCCCAAGTCCTATCTTTTCCCTGAAGATGCCTTAAATCCTTTCTGGATCCAACTGGAGTATCCATAGTAAGGACATCGAGGCTCTGTCTCATGCCTCGTTTGGCCTATCTGGAAGGCAGTCAAAGCTGCAGAAAACTGACCGGAGAGTACATGGTTCCAGGATCCAGGAAGAATCACAGCTGACTTTTTGGGGGCCTTTTCTTTGTTGTTGTCCGTCTACAACTTGGTCCTTCCATACCCTCTTATCACCTCCTGCTACAATTCTACCCCACCCTTTGACTCAACCTGAATGTTCCCTGCTCCACAAAGGTTTCATAAATGCCCTGCCCCACCCAGTAGCCCCTGGAATCACCGCCCCCTCCGCTATGAGTCCCCAGCTCTGTGCATCCCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAGCCGGGAAGCCCTTGGCTGGGGGGGCAGGGCAGAGGGGTGGATGTGTCTTCACAATCTCCTAGGACGCTTTCTGCAGTGTCCAGAGTCACATGAAGCAAACAATGCCTGCAGGGTGACCCAGCATCTCCTAAAGGTTTTCCTAAGGAGGGAATGGTTCAAGTATATATTCTATCAGGATGCTTGTCACAGCACTACTTATAATAATAATAAAAAAAATAGTAAATGACCTAATAGGGGTTCGTTAAATAAATTACGGCACTTTGACTCAATGGAACCTTACGCAACACTTACAAATAAAGAATGTAGCTTTGGCCGGGTCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCAGCCTGGCCAACACGGTGAAACACCGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGT
Task1_train_3165
Here’s a variant in DNMT3A (DNA methyltransferase 3 alpha) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
CCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAGCCGGGAAGCCCTTGGCTGGGGGGGCAGGGCAGAGGGGTGGATGTGTCTTCACAATCTCCTAGGACGCTTTCTGCAGTGTCCAGAGTCACATGAAGCAAACAATGCCTGCAGGGTGACCCAGCATCTCCTAAAGGTTTTCCTAAGGAGGGAATGGTTCAAGTATATATTCTATCAGGATGCTTGTCACAGCACTACTTATAATAATAATAAAAAAAATAGTAAATGACCTAATAGGGGTTCGTTAAATAAATTACGGCACTTTGACTCAATGGAACCTTACGCAACACTTACAAATAAAGAATGTAGCTTTGGCCGGGTCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCAGCCTGGCCAACACGGTGAAACACCGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGTTTCCACTTCACACACAAGCTTCCCCTTTGGGATAATATTTTAACAGCTGTGAAGCTAACCATCATTTCGTTTTGCCAGAGTTGCCCACACACCTGGCTCCCCCATCCTGGGACAAGGCGGCCAGCACCTCTTGGGCCTGCACCCCTCACCTGTAGCGATTCCATCAAAGAGAGACAGCACCCGGATGGGCTTCCTCTTCTCAGCTGGGACAGGTGGGTAAACCTTTGGAGGGTCCTAAGCAGTGAGCACAACAGGTCAGATGCAGGCCCAGCGGTGTCCCAAGCTCCCACCCAGCGCTGGCCCTCCAGCCAGGCTCCTAGACCCACACACCCTGCGCACAGCTCAGGCCCCACAACCAAGGCTCAGCCAAGGGAGCTCGAGACCGCGCCCCAGGCCCAGCACTCACAAATTCCTGGTCGTGGTTATTAGCGAAGAACATCTGGAGCCGGGAGGGCCAGTCCTCTCGCCGCCGCAGCAGCCCGTAGGTACCCTTGTGCCCGCACATGTAGCAGTTCCAGGGGTCTTCCTTAATGGCTGCCTGGGCAGCCCCCGGCCCCACCAAGAGGTCCACACACTCCACGCAAAAGCACCTGGAAGGAGACCCAGTGAGCAGAGGAGACTCTCAGCCCTGGTCCGGGGAGGCCAAGGTGTGCTACCTGGAATGGAAAGACCGGGTCTGGAGCATGGCTAGGGGGTGGAGGGTCTGTGGGGAAGGGAGAGGAGGGGAGGCGGTGGGCGGCGGGAGCCTGGGGCCCAGCTAAGGAGACCACTGGAGGCCACAACAGCCTCACCTGCAGCAGTTGTTGTTTCCGCACATGAGCACCTCACGGCCCCCACAGCAGATGGTGCAGTAGGACTGGTAGCCGTCGTCGTCGTACTGGTACGCACACTCCAGAAAGCAGTTCTAGACAGCAGCGGGAAGGGTCAGAAACCACCAGGACGGGTCCCAGGACGGCCAGGACGAAGGGAGGCTCCACACCTGGCCTCACAGAGCCTAAGCCCTGAAGACATGACCCCGCCACCACCTTAGCCAGGGTCAGGCCCCAGCTGCAGATCTGGGAAGGGGAAACCTCATCTGCCTGTGCACCGCCATGGACAGAACCAAAGAGCAGCCTGAGAACAAGGCCAGGGAGGGGGCTGCACCACCACCTTGGGCCTTCCTGCAGCCCTGGGTTTTTCTCCTGGGCTCCCCAGGGCACGGCAACCCTGCTACACTCTGCCTGAGCTTGTCCCCGCTGCTCTGCTCCCATCCCCACATCTGGGGACTAAAATGGGGCTTGAGAGAGGTAAAGAATCTTTCAGAGGAGAAAAATGAGAGCAAGTCAAAAGCTTGAAACCCAAGGGCCCGTGTCATCAGGACTCTGCTTCCAGAGGAAGCTCTGAAGTCTACATCACACGCACACCGGGTGTCACCCTGTACATGCCCAGAAGCGGTGGACACAGTCAGCCAGAAGGCCGAAGGGCCGGCCTCAACGGCACCTCTCCTGGGTGGGTGTGCTCCTACCTTGCAGTTTTGGCACATTCCTCCAACGAAGAGGGGGTGTTCCAGGGTAACATTGAGGCTCCCACAGGAGATGCAGATGTCTGGAAAGCAGAGGGAGGGGATGGGGTGAGTACCACCGAAGGGCCTCTCCCTCCCCGGGCCGGAGCCCAGCACCAGACCAGCCACAAAAAAGGGGTGTGCCAGAGCGGCAGCCAGAAAAGAGTCCAGGGTGCCCCACGGAAAAGGGAGGCACTGTGACCCCAGTCTCGAACGCCATCATCTCAGAGCACCAATGCCACCATCCACAAACAGGGATGGAGTGACAGCAGGACAGAAACCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAG
CCTTGCCTCCCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAGCCGGGAAGCCCTTGGCTGGGGGGGCAGGGCAGAGGGGTGGATGTGTCTTCACAATCTCCTAGGACGCTTTCTGCAGTGTCCAGAGTCACATGAAGCAAACAATGCCTGCAGGGTGACCCAGCATCTCCTAAAGGTTTTCCTAAGGAGGGAATGGTTCAAGTATATATTCTATCAGGATGCTTGTCACAGCACTACTTATAATAATAATAAAAAAAATAGTAAATGACCTAATAGGGGTTCGTTAAATAAATTACGGCACTTTGACTCAATGGAACCTTACGCAACACTTACAAATAAAGAATGTAGCTTTGGCCGGGTCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCAGCCTGGCCAACACGGTGAAACACCGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGTTTCCACTTCACACACAAGCTTCCCCTTTGGGATAATATTTTAACAGCTGTGAAGCTAACCATCATTTCGTTTTGCCAGAGTTGCCCACACACCTGGCTCCCCCATCCTGGGACAAGGCGGCCAGCACCTCTTGGGCCTGCACCCCTCACCTGTAGCGATTCCATCAAAGAGAGACAGCACCCGGATGGGCTTCCTCTTCTCAGCTGGGACAGGTGGGTAAACCTTTGGAGGGTCCTAAGCAGTGAGCACAACAGGTCAGATGCAGGCCCAGCGGTGTCCCAAGCTCCCACCCAGCGCTGGCCCTCCAGCCAGGCTCCTAGACCCACACACCCTGCGCACAGCTCAGGCCCCACAACCAAGGCTCAGCCAAGGGAGCTCGAGACCGCGCCCCAGGCCCAGCACTCACAAATTCCTGGTCGTGGTTATTAGCGAAGAACATCTGGAGCCGGGAGGGCCAGTCCTCTCGCCGCCGCAGCAGCCCGTAGGTACCCTTGTGCCCGAACATGTAGCAGTTCCAGGGGTCTTCCTTAATGGCTGCCTGGGCAGCCCCCGGCCCCACCAAGAGGTCCACACACTCCACGCAAAAGCACCTGGAAGGAGACCCAGTGAGCAGAGGAGACTCTCAGCCCTGGTCCGGGGAGGCCAAGGTGTGCTACCTGGAATGGAAAGACCGGGTCTGGAGCATGGCTAGGGGGTGGAGGGTCTGTGGGGAAGGGAGAGGAGGGGAGGCGGTGGGCGGCGGGAGCCTGGGGCCCAGCTAAGGAGACCACTGGAGGCCACAACAGCCTCACCTGCAGCAGTTGTTGTTTCCGCACATGAGCACCTCACGGCCCCCACAGCAGATGGTGCAGTAGGACTGGTAGCCGTCGTCGTCGTACTGGTACGCACACTCCAGAAAGCAGTTCTAGACAGCAGCGGGAAGGGTCAGAAACCACCAGGACGGGTCCCAGGACGGCCAGGACGAAGGGAGGCTCCACACCTGGCCTCACAGAGCCTAAGCCCTGAAGACATGACCCCGCCACCACCTTAGCCAGGGTCAGGCCCCAGCTGCAGATCTGGGAAGGGGAAACCTCATCTGCCTGTGCACCGCCATGGACAGAACCAAAGAGCAGCCTGAGAACAAGGCCAGGGAGGGGGCTGCACCACCACCTTGGGCCTTCCTGCAGCCCTGGGTTTTTCTCCTGGGCTCCCCAGGGCACGGCAACCCTGCTACACTCTGCCTGAGCTTGTCCCCGCTGCTCTGCTCCCATCCCCACATCTGGGGACTAAAATGGGGCTTGAGAGAGGTAAAGAATCTTTCAGAGGAGAAAAATGAGAGCAAGTCAAAAGCTTGAAACCCAAGGGCCCGTGTCATCAGGACTCTGCTTCCAGAGGAAGCTCTGAAGTCTACATCACACGCACACCGGGTGTCACCCTGTACATGCCCAGAAGCGGTGGACACAGTCAGCCAGAAGGCCGAAGGGCCGGCCTCAACGGCACCTCTCCTGGGTGGGTGTGCTCCTACCTTGCAGTTTTGGCACATTCCTCCAACGAAGAGGGGGTGTTCCAGGGTAACATTGAGGCTCCCACAGGAGATGCAGATGTCTGGAAAGCAGAGGGAGGGGATGGGGTGAGTACCACCGAAGGGCCTCTCCCTCCCCGGGCCGGAGCCCAGCACCAGACCAGCCACAAAAAAGGGGTGTGCCAGAGCGGCAGCCAGAAAAGAGTCCAGGGTGCCCCACGGAAAAGGGAGGCACTGTGACCCCAGTCTCGAACGCCATCATCTCAGAGCACCAATGCCACCATCCACAAACAGGGATGGAGTGACAGCAGGACAGAAACCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAG
Task1_train_3166
Mutation context: Chromosome 2, Gene DNMT3A (DNA methyltransferase 3 alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; not provided
CCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAGCCGGGAAGCCCTTGGCTGGGGGGGCAGGGCAGAGGGGTGGATGTGTCTTCACAATCTCCTAGGACGCTTTCTGCAGTGTCCAGAGTCACATGAAGCAAACAATGCCTGCAGGGTGACCCAGCATCTCCTAAAGGTTTTCCTAAGGAGGGAATGGTTCAAGTATATATTCTATCAGGATGCTTGTCACAGCACTACTTATAATAATAATAAAAAAAATAGTAAATGACCTAATAGGGGTTCGTTAAATAAATTACGGCACTTTGACTCAATGGAACCTTACGCAACACTTACAAATAAAGAATGTAGCTTTGGCCGGGTCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCAGCCTGGCCAACACGGTGAAACACCGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGTTTCCACTTCACACACAAGCTTCCCCTTTGGGATAATATTTTAACAGCTGTGAAGCTAACCATCATTTCGTTTTGCCAGAGTTGCCCACACACCTGGCTCCCCCATCCTGGGACAAGGCGGCCAGCACCTCTTGGGCCTGCACCCCTCACCTGTAGCGATTCCATCAAAGAGAGACAGCACCCGGATGGGCTTCCTCTTCTCAGCTGGGACAGGTGGGTAAACCTTTGGAGGGTCCTAAGCAGTGAGCACAACAGGTCAGATGCAGGCCCAGCGGTGTCCCAAGCTCCCACCCAGCGCTGGCCCTCCAGCCAGGCTCCTAGACCCACACACCCTGCGCACAGCTCAGGCCCCACAACCAAGGCTCAGCCAAGGGAGCTCGAGACCGCGCCCCAGGCCCAGCACTCACAAATTCCTGGTCGTGGTTATTAGCGAAGAACATCTGGAGCCGGGAGGGCCAGTCCTCTCGCCGCCGCAGCAGCCCGTAGGTACCCTTGTGCCCGCACATGTAGCAGTTCCAGGGGTCTTCCTTAATGGCTGCCTGGGCAGCCCCCGGCCCCACCAAGAGGTCCACACACTCCACGCAAAAGCACCTGGAAGGAGACCCAGTGAGCAGAGGAGACTCTCAGCCCTGGTCCGGGGAGGCCAAGGTGTGCTACCTGGAATGGAAAGACCGGGTCTGGAGCATGGCTAGGGGGTGGAGGGTCTGTGGGGAAGGGAGAGGAGGGGAGGCGGTGGGCGGCGGGAGCCTGGGGCCCAGCTAAGGAGACCACTGGAGGCCACAACAGCCTCACCTGCAGCAGTTGTTGTTTCCGCACATGAGCACCTCACGGCCCCCACAGCAGATGGTGCAGTAGGACTGGTAGCCGTCGTCGTCGTACTGGTACGCACACTCCAGAAAGCAGTTCTAGACAGCAGCGGGAAGGGTCAGAAACCACCAGGACGGGTCCCAGGACGGCCAGGACGAAGGGAGGCTCCACACCTGGCCTCACAGAGCCTAAGCCCTGAAGACATGACCCCGCCACCACCTTAGCCAGGGTCAGGCCCCAGCTGCAGATCTGGGAAGGGGAAACCTCATCTGCCTGTGCACCGCCATGGACAGAACCAAAGAGCAGCCTGAGAACAAGGCCAGGGAGGGGGCTGCACCACCACCTTGGGCCTTCCTGCAGCCCTGGGTTTTTCTCCTGGGCTCCCCAGGGCACGGCAACCCTGCTACACTCTGCCTGAGCTTGTCCCCGCTGCTCTGCTCCCATCCCCACATCTGGGGACTAAAATGGGGCTTGAGAGAGGTAAAGAATCTTTCAGAGGAGAAAAATGAGAGCAAGTCAAAAGCTTGAAACCCAAGGGCCCGTGTCATCAGGACTCTGCTTCCAGAGGAAGCTCTGAAGTCTACATCACACGCACACCGGGTGTCACCCTGTACATGCCCAGAAGCGGTGGACACAGTCAGCCAGAAGGCCGAAGGGCCGGCCTCAACGGCACCTCTCCTGGGTGGGTGTGCTCCTACCTTGCAGTTTTGGCACATTCCTCCAACGAAGAGGGGGTGTTCCAGGGTAACATTGAGGCTCCCACAGGAGATGCAGATGTCTGGAAAGCAGAGGGAGGGGATGGGGTGAGTACCACCGAAGGGCCTCTCCCTCCCCGGGCCGGAGCCCAGCACCAGACCAGCCACAAAAAAGGGGTGTGCCAGAGCGGCAGCCAGAAAAGAGTCCAGGGTGCCCCACGGAAAAGGGAGGCACTGTGACCCCAGTCTCGAACGCCATCATCTCAGAGCACCAATGCCACCATCCACAAACAGGGATGGAGTGACAGCAGGACAGAAACCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTC
CCCATCAGAGCAGTTTCCATTCCTCACTCAGCCCTCTCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAGCCGGGAAGCCCTTGGCTGGGGGGGCAGGGCAGAGGGGTGGATGTGTCTTCACAATCTCCTAGGACGCTTTCTGCAGTGTCCAGAGTCACATGAAGCAAACAATGCCTGCAGGGTGACCCAGCATCTCCTAAAGGTTTTCCTAAGGAGGGAATGGTTCAAGTATATATTCTATCAGGATGCTTGTCACAGCACTACTTATAATAATAATAAAAAAAATAGTAAATGACCTAATAGGGGTTCGTTAAATAAATTACGGCACTTTGACTCAATGGAACCTTACGCAACACTTACAAATAAAGAATGTAGCTTTGGCCGGGTCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCAGCCTGGCCAACACGGTGAAACACCGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGTTTCCACTTCACACACAAGCTTCCCCTTTGGGATAATATTTTAACAGCTGTGAAGCTAACCATCATTTCGTTTTGCCAGAGTTGCCCACACACCTGGCTCCCCCATCCTGGGACAAGGCGGCCAGCACCTCTTGGGCCTGCACCCCTCACCTGTAGCGATTCCATCAAAGAGAGACAGCACCCGGATGGGCTTCCTCTTCTCAGCTGGGACAGGTGGGTAAACCTTTGGAGGGTCCTAAGCAGTGAGCACAACAGGTCAGATGCAGGCCCAGCGGTGTCCCAAGCTCCCACCCAGCGCTGGCCCTCCAGCCAGGCTCCTAGACCCACACACCCTGCGCACAGCTCAGGCCCCACAACCAAGGCTCAGCCAAGGGAGCTCGAGACCGCGCCCCAGGCCCAGCACTCACAAATTCCTGGTCGTGGTTATTAGCGAAGAACATCTGGAGCCGGGAGGGCCAGTCCTCTCGCCGCCGCAGCAGCCCGTAGGTACCCTTGTGCCCGCACATGTAGTAGTTCCAGGGGTCTTCCTTAATGGCTGCCTGGGCAGCCCCCGGCCCCACCAAGAGGTCCACACACTCCACGCAAAAGCACCTGGAAGGAGACCCAGTGAGCAGAGGAGACTCTCAGCCCTGGTCCGGGGAGGCCAAGGTGTGCTACCTGGAATGGAAAGACCGGGTCTGGAGCATGGCTAGGGGGTGGAGGGTCTGTGGGGAAGGGAGAGGAGGGGAGGCGGTGGGCGGCGGGAGCCTGGGGCCCAGCTAAGGAGACCACTGGAGGCCACAACAGCCTCACCTGCAGCAGTTGTTGTTTCCGCACATGAGCACCTCACGGCCCCCACAGCAGATGGTGCAGTAGGACTGGTAGCCGTCGTCGTCGTACTGGTACGCACACTCCAGAAAGCAGTTCTAGACAGCAGCGGGAAGGGTCAGAAACCACCAGGACGGGTCCCAGGACGGCCAGGACGAAGGGAGGCTCCACACCTGGCCTCACAGAGCCTAAGCCCTGAAGACATGACCCCGCCACCACCTTAGCCAGGGTCAGGCCCCAGCTGCAGATCTGGGAAGGGGAAACCTCATCTGCCTGTGCACCGCCATGGACAGAACCAAAGAGCAGCCTGAGAACAAGGCCAGGGAGGGGGCTGCACCACCACCTTGGGCCTTCCTGCAGCCCTGGGTTTTTCTCCTGGGCTCCCCAGGGCACGGCAACCCTGCTACACTCTGCCTGAGCTTGTCCCCGCTGCTCTGCTCCCATCCCCACATCTGGGGACTAAAATGGGGCTTGAGAGAGGTAAAGAATCTTTCAGAGGAGAAAAATGAGAGCAAGTCAAAAGCTTGAAACCCAAGGGCCCGTGTCATCAGGACTCTGCTTCCAGAGGAAGCTCTGAAGTCTACATCACACGCACACCGGGTGTCACCCTGTACATGCCCAGAAGCGGTGGACACAGTCAGCCAGAAGGCCGAAGGGCCGGCCTCAACGGCACCTCTCCTGGGTGGGTGTGCTCCTACCTTGCAGTTTTGGCACATTCCTCCAACGAAGAGGGGGTGTTCCAGGGTAACATTGAGGCTCCCACAGGAGATGCAGATGTCTGGAAAGCAGAGGGAGGGGATGGGGTGAGTACCACCGAAGGGCCTCTCCCTCCCCGGGCCGGAGCCCAGCACCAGACCAGCCACAAAAAAGGGGTGTGCCAGAGCGGCAGCCAGAAAAGAGTCCAGGGTGCCCCACGGAAAAGGGAGGCACTGTGACCCCAGTCTCGAACGCCATCATCTCAGAGCACCAATGCCACCATCCACAAACAGGGATGGAGTGACAGCAGGACAGAAACCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTC
Task1_train_3167
Here is a variant affecting DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
TCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAGCCGGGAAGCCCTTGGCTGGGGGGGCAGGGCAGAGGGGTGGATGTGTCTTCACAATCTCCTAGGACGCTTTCTGCAGTGTCCAGAGTCACATGAAGCAAACAATGCCTGCAGGGTGACCCAGCATCTCCTAAAGGTTTTCCTAAGGAGGGAATGGTTCAAGTATATATTCTATCAGGATGCTTGTCACAGCACTACTTATAATAATAATAAAAAAAATAGTAAATGACCTAATAGGGGTTCGTTAAATAAATTACGGCACTTTGACTCAATGGAACCTTACGCAACACTTACAAATAAAGAATGTAGCTTTGGCCGGGTCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCAGCCTGGCCAACACGGTGAAACACCGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGTTTCCACTTCACACACAAGCTTCCCCTTTGGGATAATATTTTAACAGCTGTGAAGCTAACCATCATTTCGTTTTGCCAGAGTTGCCCACACACCTGGCTCCCCCATCCTGGGACAAGGCGGCCAGCACCTCTTGGGCCTGCACCCCTCACCTGTAGCGATTCCATCAAAGAGAGACAGCACCCGGATGGGCTTCCTCTTCTCAGCTGGGACAGGTGGGTAAACCTTTGGAGGGTCCTAAGCAGTGAGCACAACAGGTCAGATGCAGGCCCAGCGGTGTCCCAAGCTCCCACCCAGCGCTGGCCCTCCAGCCAGGCTCCTAGACCCACACACCCTGCGCACAGCTCAGGCCCCACAACCAAGGCTCAGCCAAGGGAGCTCGAGACCGCGCCCCAGGCCCAGCACTCACAAATTCCTGGTCGTGGTTATTAGCGAAGAACATCTGGAGCCGGGAGGGCCAGTCCTCTCGCCGCCGCAGCAGCCCGTAGGTACCCTTGTGCCCGCACATGTAGCAGTTCCAGGGGTCTTCCTTAATGGCTGCCTGGGCAGCCCCCGGCCCCACCAAGAGGTCCACACACTCCACGCAAAAGCACCTGGAAGGAGACCCAGTGAGCAGAGGAGACTCTCAGCCCTGGTCCGGGGAGGCCAAGGTGTGCTACCTGGAATGGAAAGACCGGGTCTGGAGCATGGCTAGGGGGTGGAGGGTCTGTGGGGAAGGGAGAGGAGGGGAGGCGGTGGGCGGCGGGAGCCTGGGGCCCAGCTAAGGAGACCACTGGAGGCCACAACAGCCTCACCTGCAGCAGTTGTTGTTTCCGCACATGAGCACCTCACGGCCCCCACAGCAGATGGTGCAGTAGGACTGGTAGCCGTCGTCGTCGTACTGGTACGCACACTCCAGAAAGCAGTTCTAGACAGCAGCGGGAAGGGTCAGAAACCACCAGGACGGGTCCCAGGACGGCCAGGACGAAGGGAGGCTCCACACCTGGCCTCACAGAGCCTAAGCCCTGAAGACATGACCCCGCCACCACCTTAGCCAGGGTCAGGCCCCAGCTGCAGATCTGGGAAGGGGAAACCTCATCTGCCTGTGCACCGCCATGGACAGAACCAAAGAGCAGCCTGAGAACAAGGCCAGGGAGGGGGCTGCACCACCACCTTGGGCCTTCCTGCAGCCCTGGGTTTTTCTCCTGGGCTCCCCAGGGCACGGCAACCCTGCTACACTCTGCCTGAGCTTGTCCCCGCTGCTCTGCTCCCATCCCCACATCTGGGGACTAAAATGGGGCTTGAGAGAGGTAAAGAATCTTTCAGAGGAGAAAAATGAGAGCAAGTCAAAAGCTTGAAACCCAAGGGCCCGTGTCATCAGGACTCTGCTTCCAGAGGAAGCTCTGAAGTCTACATCACACGCACACCGGGTGTCACCCTGTACATGCCCAGAAGCGGTGGACACAGTCAGCCAGAAGGCCGAAGGGCCGGCCTCAACGGCACCTCTCCTGGGTGGGTGTGCTCCTACCTTGCAGTTTTGGCACATTCCTCCAACGAAGAGGGGGTGTTCCAGGGTAACATTGAGGCTCCCACAGGAGATGCAGATGTCTGGAAAGCAGAGGGAGGGGATGGGGTGAGTACCACCGAAGGGCCTCTCCCTCCCCGGGCCGGAGCCCAGCACCAGACCAGCCACAAAAAAGGGGTGTGCCAGAGCGGCAGCCAGAAAAGAGTCCAGGGTGCCCCACGGAAAAGGGAGGCACTGTGACCCCAGTCTCGAACGCCATCATCTCAGAGCACCAATGCCACCATCCACAAACAGGGATGGAGTGACAGCAGGACAGAAACCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCC
TCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGCAGCATGGAGCTGAGAACAGAAGACAAACATCTGGCCGGGGAAGCCATCCCCTCCGCCTCACCCTCTAACCAGGGTCCCTGGGTTGAGACTGCCTATCTCCCTCTGGCCAAAGACATGAATTCTAAGAAGAGCTATTCCTTTCTTAAAAGCCGGGAAGCCCTTGGCTGGGGGGGCAGGGCAGAGGGGTGGATGTGTCTTCACAATCTCCTAGGACGCTTTCTGCAGTGTCCAGAGTCACATGAAGCAAACAATGCCTGCAGGGTGACCCAGCATCTCCTAAAGGTTTTCCTAAGGAGGGAATGGTTCAAGTATATATTCTATCAGGATGCTTGTCACAGCACTACTTATAATAATAATAAAAAAAATAGTAAATGACCTAATAGGGGTTCGTTAAATAAATTACGGCACTTTGACTCAATGGAACCTTACGCAACACTTACAAATAAAGAATGTAGCTTTGGCCGGGTCTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAAGAGATCGAGACCAGCCTGGCCAACACGGTGAAACACCGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCAAGATGGCACCACTGCACTCCAGCCTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGTTTCCACTTCACACACAAGCTTCCCCTTTGGGATAATATTTTAACAGCTGTGAAGCTAACCATCATTTCGTTTTGCCAGAGTTGCCCACACACCTGGCTCCCCCATCCTGGGACAAGGCGGCCAGCACCTCTTGGGCCTGCACCCCTCACCTGTAGCGATTCCATCAAAGAGAGACAGCACCCGGATGGGCTTCCTCTTCTCAGCTGGGACAGGTGGGTAAACCTTTGGAGGGTCCTAAGCAGTGAGCACAACAGGTCAGATGCAGGCCCAGCGGTGTCCCAAGCTCCCACCCAGCGCTGGCCCTCCAGCCAGGCTCCTAGACCCACACACCCTGCGCACAGCTCAGGCCCCACAACCAAGGCTCAGCCAAGGGAGCTCGAGACCGCGCCCCAGGCCCAGCACTCACAAATTCCTGGTCGTGGTTATTAGCGAAGAACATCTGGAGCCGGGAGGGCCAGTCCTCTCGCCGCCGCAGCAGCCCGTAGGTACCCTTGTGCCCGCACATGTAGCAGTTCCAGGGGTCTTCCTTAATGGCTGCCTGGGCAGCCCCCGGCCCCACCAAGAGGTCCACACACTCCACGCAAAAGCACCTGGAAGGAGACCCAGTGAGCAGAGGAGACTCTCAGCCCTGGTCCGGGGAGGCCAAGGTGTGCTACCTGGAATGGAAAGACCGGGTCTGGAGCATGGCTAGGGGGTGGAGGGTCTGTGGGGAAGGGAGAGGAGGGGAGGCGGTGGGCGGCGGGAGCCTGGGGCCCAGCTAAGGAGACCACTGGAGGCCACAACAGCCTCACCTGCAGCAGTTGTTGTTTCCGCACTTGAGCACCTCACGGCCCCCACAGCAGATGGTGCAGTAGGACTGGTAGCCGTCGTCGTCGTACTGGTACGCACACTCCAGAAAGCAGTTCTAGACAGCAGCGGGAAGGGTCAGAAACCACCAGGACGGGTCCCAGGACGGCCAGGACGAAGGGAGGCTCCACACCTGGCCTCACAGAGCCTAAGCCCTGAAGACATGACCCCGCCACCACCTTAGCCAGGGTCAGGCCCCAGCTGCAGATCTGGGAAGGGGAAACCTCATCTGCCTGTGCACCGCCATGGACAGAACCAAAGAGCAGCCTGAGAACAAGGCCAGGGAGGGGGCTGCACCACCACCTTGGGCCTTCCTGCAGCCCTGGGTTTTTCTCCTGGGCTCCCCAGGGCACGGCAACCCTGCTACACTCTGCCTGAGCTTGTCCCCGCTGCTCTGCTCCCATCCCCACATCTGGGGACTAAAATGGGGCTTGAGAGAGGTAAAGAATCTTTCAGAGGAGAAAAATGAGAGCAAGTCAAAAGCTTGAAACCCAAGGGCCCGTGTCATCAGGACTCTGCTTCCAGAGGAAGCTCTGAAGTCTACATCACACGCACACCGGGTGTCACCCTGTACATGCCCAGAAGCGGTGGACACAGTCAGCCAGAAGGCCGAAGGGCCGGCCTCAACGGCACCTCTCCTGGGTGGGTGTGCTCCTACCTTGCAGTTTTGGCACATTCCTCCAACGAAGAGGGGGTGTTCCAGGGTAACATTGAGGCTCCCACAGGAGATGCAGATGTCTGGAAAGCAGAGGGAGGGGATGGGGTGAGTACCACCGAAGGGCCTCTCCCTCCCCGGGCCGGAGCCCAGCACCAGACCAGCCACAAAAAAGGGGTGTGCCAGAGCGGCAGCCAGAAAAGAGTCCAGGGTGCCCCACGGAAAAGGGAGGCACTGTGACCCCAGTCTCGAACGCCATCATCTCAGAGCACCAATGCCACCATCCACAAACAGGGATGGAGTGACAGCAGGACAGAAACCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCC
Task1_train_3168
Here is a genetic alteration in DNMT3A (DNA methyltransferase 3 alpha) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
CTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGTTTCCACTTCACACACAAGCTTCCCCTTTGGGATAATATTTTAACAGCTGTGAAGCTAACCATCATTTCGTTTTGCCAGAGTTGCCCACACACCTGGCTCCCCCATCCTGGGACAAGGCGGCCAGCACCTCTTGGGCCTGCACCCCTCACCTGTAGCGATTCCATCAAAGAGAGACAGCACCCGGATGGGCTTCCTCTTCTCAGCTGGGACAGGTGGGTAAACCTTTGGAGGGTCCTAAGCAGTGAGCACAACAGGTCAGATGCAGGCCCAGCGGTGTCCCAAGCTCCCACCCAGCGCTGGCCCTCCAGCCAGGCTCCTAGACCCACACACCCTGCGCACAGCTCAGGCCCCACAACCAAGGCTCAGCCAAGGGAGCTCGAGACCGCGCCCCAGGCCCAGCACTCACAAATTCCTGGTCGTGGTTATTAGCGAAGAACATCTGGAGCCGGGAGGGCCAGTCCTCTCGCCGCCGCAGCAGCCCGTAGGTACCCTTGTGCCCGCACATGTAGCAGTTCCAGGGGTCTTCCTTAATGGCTGCCTGGGCAGCCCCCGGCCCCACCAAGAGGTCCACACACTCCACGCAAAAGCACCTGGAAGGAGACCCAGTGAGCAGAGGAGACTCTCAGCCCTGGTCCGGGGAGGCCAAGGTGTGCTACCTGGAATGGAAAGACCGGGTCTGGAGCATGGCTAGGGGGTGGAGGGTCTGTGGGGAAGGGAGAGGAGGGGAGGCGGTGGGCGGCGGGAGCCTGGGGCCCAGCTAAGGAGACCACTGGAGGCCACAACAGCCTCACCTGCAGCAGTTGTTGTTTCCGCACATGAGCACCTCACGGCCCCCACAGCAGATGGTGCAGTAGGACTGGTAGCCGTCGTCGTCGTACTGGTACGCACACTCCAGAAAGCAGTTCTAGACAGCAGCGGGAAGGGTCAGAAACCACCAGGACGGGTCCCAGGACGGCCAGGACGAAGGGAGGCTCCACACCTGGCCTCACAGAGCCTAAGCCCTGAAGACATGACCCCGCCACCACCTTAGCCAGGGTCAGGCCCCAGCTGCAGATCTGGGAAGGGGAAACCTCATCTGCCTGTGCACCGCCATGGACAGAACCAAAGAGCAGCCTGAGAACAAGGCCAGGGAGGGGGCTGCACCACCACCTTGGGCCTTCCTGCAGCCCTGGGTTTTTCTCCTGGGCTCCCCAGGGCACGGCAACCCTGCTACACTCTGCCTGAGCTTGTCCCCGCTGCTCTGCTCCCATCCCCACATCTGGGGACTAAAATGGGGCTTGAGAGAGGTAAAGAATCTTTCAGAGGAGAAAAATGAGAGCAAGTCAAAAGCTTGAAACCCAAGGGCCCGTGTCATCAGGACTCTGCTTCCAGAGGAAGCTCTGAAGTCTACATCACACGCACACCGGGTGTCACCCTGTACATGCCCAGAAGCGGTGGACACAGTCAGCCAGAAGGCCGAAGGGCCGGCCTCAACGGCACCTCTCCTGGGTGGGTGTGCTCCTACCTTGCAGTTTTGGCACATTCCTCCAACGAAGAGGGGGTGTTCCAGGGTAACATTGAGGCTCCCACAGGAGATGCAGATGTCTGGAAAGCAGAGGGAGGGGATGGGGTGAGTACCACCGAAGGGCCTCTCCCTCCCCGGGCCGGAGCCCAGCACCAGACCAGCCACAAAAAAGGGGTGTGCCAGAGCGGCAGCCAGAAAAGAGTCCAGGGTGCCCCACGGAAAAGGGAGGCACTGTGACCCCAGTCTCGAACGCCATCATCTCAGAGCACCAATGCCACCATCCACAAACAGGGATGGAGTGACAGCAGGACAGAAACCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCCTCATTTACCTTCTGGTGGCTCCAGGCCCTTAGGGCCAGAAGGCTGGAAGCCCCCCAGGGCCCATTCAATCATGGGCTTGTTCTGCACCTCCACGGCCTTGGCAGTGTCACTCTCATCGCTGTCGTGGCACACCGGGAACAGCTTCCCCGCGCGGCTGCTGGCCACCTGGAGGGTGACACGCCAGGGTTGGGGTTGTCAGGACAGGCTGGAAGGCAGATGGGTCAGGCTCAAGGCCAGACTCTGAGTAGTGAGGGTGGCACAGGCAAGATGGGGAGGAACCGCTGAGGAGGAGCGGGATGTGCATACGGGCGAGCGAGGTGGAGAGAAAGGAGTCGCTGCCTCCTGGGCCTCCGTTCTGCTCAAGCCCGACCTGCACTCCAACTTCCAGGCCTCCTAGTGCTCTAGGCTCCTCCTCCGAGCTCCCAGCAGGGACACTCACCTGCAGGACCTCGTAGATGGCTTTGCGGTACATGGGCTGCTTGTTGTACGTGGCCTGGTGGAACGCACTGCAAAACGAGCTCAGCGGCATCAGCTTCTCAACACACACCTGGGGGGACAAGCCAGGCCTTGTTTGCCGAGGCTTACACTTGCAAGCACCCACCCCATGCCTTGCAACTGGCAGGGGCTGGGAGCCTCGAGAGTCAGTCTCAGCCCTGGAGGGGACCAGATACAGTGATAAATAATTACCCGATGCAAAGAGGAGTCCAGACCAAGAGTAGGGAAGTACCTGAGTGCAGGTGGAAAGGAATTCTAGTGAATAGG
CTGGGCAACAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTAGCTTTATATCGCTTGACATGAAAAAGCAATCATAATATAATAAATGCAAGGCAAGTTACAAAACCGTGTGCATTCACTACCCACTTAATTTATCTATCTATGGATGTATGGTTATATAAACACAAACGCACAGAAAAAAATCTGAAAAGGACATATGCCAAAATATTAATAAAAGGATAATGGGTGATTTAAATAAGTCTTCTTTAGACTATCTTGTGTATAATCAAAACACAACAGAACTGTGTATGTTTCTGTCTTGCTGAATCTGTCCTTTGAGGCTCTGTGAAATCTCTGTGAATCTGACTAATGATCACTCGGCCTCTGTGGCTGAATCTTCCTTACTAAGGAAGCGCCCAGCAGGCAGGCTGCTTTACCACCTGTTTTACTTTTTTATTTTTGGTCAAATCTAAGTCCACGGACTGCATACGTTTCCACTTCACACACAAGCTTCCCCTTTGGGATAATATTTTAACAGCTGTGAAGCTAACCATCATTTCGTTTTGCCAGAGTTGCCCACACACCTGGCTCCCCCATCCTGGGACAAGGCGGCCAGCACCTCTTGGGCCTGCACCCCTCACCTGTAGCGATTCCATCAAAGAGAGACAGCACCCGGATGGGCTTCCTCTTCTCAGCTGGGACAGGTGGGTAAACCTTTGGAGGGTCCTAAGCAGTGAGCACAACAGGTCAGATGCAGGCCCAGCGGTGTCCCAAGCTCCCACCCAGCGCTGGCCCTCCAGCCAGGCTCCTAGACCCACACACCCTGCGCACAGCTCAGGCCCCACAACCAAGGCTCAGCCAAGGGAGCTCGAGACCGCGCCCCAGGCCCAGCACTCACAAATTCCTGGTCGTGGTTATTAGCGAAGAACATCTGGAGCCGGGAGGGCCAGTCCTCTCGCCGCCGCAGCAGCCCGTAGGTACCCTTGTGCCCGCACATGTAGCAGTTCCAGGGGTCTTCCTTAATGGCTGCCTGGGCAGCCCCCGGCCCCACCAAGAGGTCCACACACTCCACGCAAAAGCACCTGGAAGGAGACCCAGTGAGCAGAGGAGACTCTCAGCCCTGGTCCGGGGAGGCCAAGGTGTGCTACCTGGAATGGAAAGACCGGGTCTGGAGCATGGCTAGGGGGTGGAGGGTCTGTGGGGAAGGGAGAGGAGGGGAGGCGGTGGGCGGCGGGAGCCTGGGGCCCAGCTAAGGAGACCACTGGAGGCCACAACAGCCTCACCTGCAGCAGTTGTTGTTTCCGCACATGAGCACCTCACGGCCCCCACAGCAGATGGTGCAGTAGGACTGGTAGCCGTCGTCGTCGTACTGGTACGCACACTCCAGAAAGCAGTTCTAGACAGCAGCGGGAAGGGTCAGAAACCACCAGGACGGGTCCCAGGACGGCCAGGACGAAGGGAGGCTCCACACCTGGCCTCACAGAGCCTAAGCCCTGAAGACATGACCCCGCCACCACCTTAGCCAGGGTCAGGCCCCAGCTGCAGATCTGGGAAGGGGAAACCTCATCTGCCTGTGCACCGCCATGGACAGAACCAAAGAGCAGCCTGAGAACAAGGCCAGGGAGGGGGCTGCACCACCACCTTGGGCCTTCCTGCAGCCCTGGGTTTTTCTCCTGGGCTCCCCAGGGCACGGCAACCCTGCTACACTCTGCCTGAGCTTGTCCCCGCTGCTCTGCTCCCATCCCCACATCTGGGGACTAAAATGGGGCTTGAGAGAGGTAAAGAATCTTTCAGAGGAGAAAAATGAGAGCAAGTCAAAAGCTTGAAACCCAAGGGCCCGTGTCATCAGGACTCTGCTTCCAGAGGAAGCTCTGAAGTCTACATCACACGCACACCGGGTGTCACCCTGTACATGCCCAGAAGCGGTGGACACAGTCAGCCAGAAGGCCGAAGGGCCGGCCTCAACGGCACCTCTCCTGGGTGGGTGTGCTCCTACCTTGCAGTTTTGGCACATTCCTCCAACGAAGAGGGGGTGTTCCAGGGTAACATTGAGGCTCCCACAGGAGATGGAGATGTCTGGAAAGCAGAGGGAGGGGATGGGGTGAGTACCACCGAAGGGCCTCTCCCTCCCCGGGCCGGAGCCCAGCACCAGACCAGCCACAAAAAAGGGGTGTGCCAGAGCGGCAGCCAGAAAAGAGTCCAGGGTGCCCCACGGAAAAGGGAGGCACTGTGACCCCAGTCTCGAACGCCATCATCTCAGAGCACCAATGCCACCATCCACAAACAGGGATGGAGTGACAGCAGGACAGAAACCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCCTCATTTACCTTCTGGTGGCTCCAGGCCCTTAGGGCCAGAAGGCTGGAAGCCCCCCAGGGCCCATTCAATCATGGGCTTGTTCTGCACCTCCACGGCCTTGGCAGTGTCACTCTCATCGCTGTCGTGGCACACCGGGAACAGCTTCCCCGCGCGGCTGCTGGCCACCTGGAGGGTGACACGCCAGGGTTGGGGTTGTCAGGACAGGCTGGAAGGCAGATGGGTCAGGCTCAAGGCCAGACTCTGAGTAGTGAGGGTGGCACAGGCAAGATGGGGAGGAACCGCTGAGGAGGAGCGGGATGTGCATACGGGCGAGCGAGGTGGAGAGAAAGGAGTCGCTGCCTCCTGGGCCTCCGTTCTGCTCAAGCCCGACCTGCACTCCAACTTCCAGGCCTCCTAGTGCTCTAGGCTCCTCCTCCGAGCTCCCAGCAGGGACACTCACCTGCAGGACCTCGTAGATGGCTTTGCGGTACATGGGCTGCTTGTTGTACGTGGCCTGGTGGAACGCACTGCAAAACGAGCTCAGCGGCATCAGCTTCTCAACACACACCTGGGGGGACAAGCCAGGCCTTGTTTGCCGAGGCTTACACTTGCAAGCACCCACCCCATGCCTTGCAACTGGCAGGGGCTGGGAGCCTCGAGAGTCAGTCTCAGCCCTGGAGGGGACCAGATACAGTGATAAATAATTACCCGATGCAAAGAGGAGTCCAGACCAAGAGTAGGGAAGTACCTGAGTGCAGGTGGAAAGGAATTCTAGTGAATAGG
Task1_train_3169
A variant was discovered in gene DNMT3A (DNA methyltransferase 3 alpha), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Heyn-Sproul-Jackson syndrome
CCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCCTCATTTACCTTCTGGTGGCTCCAGGCCCTTAGGGCCAGAAGGCTGGAAGCCCCCCAGGGCCCATTCAATCATGGGCTTGTTCTGCACCTCCACGGCCTTGGCAGTGTCACTCTCATCGCTGTCGTGGCACACCGGGAACAGCTTCCCCGCGCGGCTGCTGGCCACCTGGAGGGTGACACGCCAGGGTTGGGGTTGTCAGGACAGGCTGGAAGGCAGATGGGTCAGGCTCAAGGCCAGACTCTGAGTAGTGAGGGTGGCACAGGCAAGATGGGGAGGAACCGCTGAGGAGGAGCGGGATGTGCATACGGGCGAGCGAGGTGGAGAGAAAGGAGTCGCTGCCTCCTGGGCCTCCGTTCTGCTCAAGCCCGACCTGCACTCCAACTTCCAGGCCTCCTAGTGCTCTAGGCTCCTCCTCCGAGCTCCCAGCAGGGACACTCACCTGCAGGACCTCGTAGATGGCTTTGCGGTACATGGGCTGCTTGTTGTACGTGGCCTGGTGGAACGCACTGCAAAACGAGCTCAGCGGCATCAGCTTCTCAACACACACCTGGGGGGACAAGCCAGGCCTTGTTTGCCGAGGCTTACACTTGCAAGCACCCACCCCATGCCTTGCAACTGGCAGGGGCTGGGAGCCTCGAGAGTCAGTCTCAGCCCTGGAGGGGACCAGATACAGTGATAAATAATTACCCGATGCAAAGAGGAGTCCAGACCAAGAGTAGGGAAGTACCTGAGTGCAGGTGGAAAGGAATTCTAGTGAATAGGTTCCTGGAAGGCTAAAACTGGGCCAGCATCCTAGCTCTCTGAGCCACAGGTGCAACCTAATTATCCCTACAGCTTCTTCCACCCACCACAGGCAGAGTAGGGGTGAGCAGAACCCACTTCCATCACCCCAATTCCAGACTGCCCCCAGCCAAAACCACAGGCCCTGGGATCAAGAACCTTCCCCCACCCCAGGCTACTGCCAAACCCCACAACTTACCACTGAGAATTTGCCGTCTCCGAACCACATGACCCAGCGGGTGCCTTCAGCTGCTCGGCTCCGGCCCGTCATCCACCAAGACACAATGCGGCCTGGCCACCAGGAGAAGCCCCGCAGTTTCCCCCACACCAGCTCCCCAATGCCAAAGCCCCGGCCGTCCTGGAGCCCCAAGGAGCAGAAATCATTACACAGTGGTCACGAGGCCCTGCCACCCTGATCCCCCCATGGCAACCCCAGCCCTGGGCATCTGGGGGGCAGGACAGCCAGGAGGGAGCTCCATCTGAATGAGGCAAGACAGAGCAAAATCGGGGAGACGAAGAGGCCCGGGGTCAGGTGGAGAGAGCGAGCGGCCCGTGGGAGATGGAGAGAGGAGAGCAGGACGGGAGGAGCTGGCAGTGGAAGGCCCCCGGAAAGAGCTGGCCACGGCTGGTGAAGAAGCCGCTCACCTCGTACTCTGGCTCGTCATCGCCTGCTTTGGTGGCATTCTTGTCCCCAGCATCGGACCCCACGGGCTCAGGCGTGGTAGCCACAGTGGGGGATGCGGGGTCAGTGGGCTGCTGCACAGCAGGAGGGCTGGCCTCCTCCACCTTCTGAGACTCCCCGGGCCCCTGGTTTTCTTCCACAGCATTCATTCCTGCAATGACCTTGGCTTTCTTCTCAGCCTGGGGAAACAAAAAACAAAAAGTCACCTTGACCTCTCCAGGAATTAGCAAGGCCACCTGACACTCAAGGGGACCATGTTTGTCAAAACCCGGAACAGTGACAGAAGGTCAAGGGCTGGAGAGAGCCAACCAGCTGCCTTGCCGTGAAAAATGGAAAGACTTGAAGTAGAGAGGTGAACTCAAGTCACACAATTCCAGCCTTCTTTTCTGCCTTTTAGGAAACCTTCCTCCCAGATCTAATCTTCCTCAATCTCATCAGCATATCGGTTGCCTACCCTATGATACGGAAATGTTATTTATTTATTTTTTTTTTTGGAGACAGAGTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCGCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATATTGACCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATTTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTAGCCTACGTTAATGTTTTTTTTTTAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATTCATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTAGCATTATACCGTATATCTCCTAATGCTATCCCTCCCCCTACCTATGGAGATGTTAATTCTATCCAAATATTAATCAGGCACTATTGTTTAGACACAGATATTGGTTCCACCCTCTCCTATCTTCTTAATCAAGACTAGGATCTTCAGCCAGGCATGTGCCTGTAATCCCAGTTACTGAGCAGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGTCACCAAAAATTTAAAAAGCAAGGGGGACCCTCTCTTCTTCTCCACAATTCCCCTGGGCAATCAATCCTTCCTATTCCTGGTTTCCAGGCCACAATTCTAGTTTTGTGATGTCTGCTGACGAAGAAATCACTGCTCTGGGTTTAAAGAGCCCATCTCCCCCCAGCACATGCTCAAACACCATAGGAAGCTCCCCAAGAGCCTGTCTGTTCCCATGCTCAGACGCCATGCTGGAGTTCTTATGGATCACACCCAGTGTGTATTGTTACCAGATTCGACCCCTTCTATGTGCACCCTTCAGATCCATAAATACATGTATTCATTCAGTTATTTACTGAGCAGGCACTATAGACCAGGCGTGCTCTCTGCCATCCCACCAACAAATTAATAAGCCAAACCCCAGTTATTCTCCCATTGCACAGCCTCCATCCTTTCACCGTATCAC
CCTGCTCATGAGAAGCAGCCCTGGTTCCAGGTTACTCAGGAGGGATTCCCGGGGTAATCCTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCCTCATTTACCTTCTGGTGGCTCCAGGCCCTTAGGGCCAGAAGGCTGGAAGCCCCCCAGGGCCCATTCAATCATGGGCTTGTTCTGCACCTCCACGGCCTTGGCAGTGTCACTCTCATCGCTGTCGTGGCACACCGGGAACAGCTTCCCCGCGCGGCTGCTGGCCACCTGGAGGGTGACACGCCAGGGTTGGGGTTGTCAGGACAGGCTGGAAGGCAGATGGGTCAGGCTCAAGGCCAGACTCTGAGTAGTGAGGGTGGCACAGGCAAGATGGGGAGGAACCGCTGAGGAGGAGCGGGATGTGCATACGGGCGAGCGAGGTGGAGAGAAAGGAGTCGCTGCCTCCTGGGCCTCCGTTCTGCTCAAGCCCGACCTGCACTCCAACTTCCAGGCCTCCTAGTGCTCTAGGCTCCTCCTCCGAGCTCCCAGCAGGGACACTCACCTGCAGGACCTCGTAGATGGCTTTGCGGTACATGGGCTGCTTGTTGTACGTGGCCTGGTGGAACGCACTGCAAAACGAGCTCAGCGGCATCAGCTTCTCAACACACACCTGGGGGGACAAGCCAGGCCTTGTTTGCCGAGGCTTACACTTGCAAGCACCCACCCCATGCCTTGCAACTGGCAGGGGCTGGGAGCCTCGAGAGTCAGTCTCAGCCCTGGAGGGGACCAGATACAGTGATAAATAATTACCCGATGCAAAGAGGAGTCCAGACCAAGAGTAGGGAAGTACCTGAGTGCAGGTGGAAAGGAATTCTAGTGAATAGGTTCCTGGAAGGCTAAAACTGGGCCAGCATCCTAGCTCTCTGAGCCACAGGTGCAACCTAATTATCCCTACAGCTTCTTCCACCCACCACAGGCAGAGTAGGGGTGAGCAGAACCCACTTCCATCACCCCAATTCCAGACTGCCCCCAGCCAAAACCACAGGCCCTGGGATCAAGAACCTTCCCCCACCCCAGGCTACTGCCAAACCCCACAACTTACCACTGAGAATTTGCCGTCTCCGAACCGCATGACCCAGCGGGTGCCTTCAGCTGCTCGGCTCCGGCCCGTCATCCACCAAGACACAATGCGGCCTGGCCACCAGGAGAAGCCCCGCAGTTTCCCCCACACCAGCTCCCCAATGCCAAAGCCCCGGCCGTCCTGGAGCCCCAAGGAGCAGAAATCATTACACAGTGGTCACGAGGCCCTGCCACCCTGATCCCCCCATGGCAACCCCAGCCCTGGGCATCTGGGGGGCAGGACAGCCAGGAGGGAGCTCCATCTGAATGAGGCAAGACAGAGCAAAATCGGGGAGACGAAGAGGCCCGGGGTCAGGTGGAGAGAGCGAGCGGCCCGTGGGAGATGGAGAGAGGAGAGCAGGACGGGAGGAGCTGGCAGTGGAAGGCCCCCGGAAAGAGCTGGCCACGGCTGGTGAAGAAGCCGCTCACCTCGTACTCTGGCTCGTCATCGCCTGCTTTGGTGGCATTCTTGTCCCCAGCATCGGACCCCACGGGCTCAGGCGTGGTAGCCACAGTGGGGGATGCGGGGTCAGTGGGCTGCTGCACAGCAGGAGGGCTGGCCTCCTCCACCTTCTGAGACTCCCCGGGCCCCTGGTTTTCTTCCACAGCATTCATTCCTGCAATGACCTTGGCTTTCTTCTCAGCCTGGGGAAACAAAAAACAAAAAGTCACCTTGACCTCTCCAGGAATTAGCAAGGCCACCTGACACTCAAGGGGACCATGTTTGTCAAAACCCGGAACAGTGACAGAAGGTCAAGGGCTGGAGAGAGCCAACCAGCTGCCTTGCCGTGAAAAATGGAAAGACTTGAAGTAGAGAGGTGAACTCAAGTCACACAATTCCAGCCTTCTTTTCTGCCTTTTAGGAAACCTTCCTCCCAGATCTAATCTTCCTCAATCTCATCAGCATATCGGTTGCCTACCCTATGATACGGAAATGTTATTTATTTATTTTTTTTTTTGGAGACAGAGTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCGCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATATTGACCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATTTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTAGCCTACGTTAATGTTTTTTTTTTAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATTCATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTAGCATTATACCGTATATCTCCTAATGCTATCCCTCCCCCTACCTATGGAGATGTTAATTCTATCCAAATATTAATCAGGCACTATTGTTTAGACACAGATATTGGTTCCACCCTCTCCTATCTTCTTAATCAAGACTAGGATCTTCAGCCAGGCATGTGCCTGTAATCCCAGTTACTGAGCAGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGTCACCAAAAATTTAAAAAGCAAGGGGGACCCTCTCTTCTTCTCCACAATTCCCCTGGGCAATCAATCCTTCCTATTCCTGGTTTCCAGGCCACAATTCTAGTTTTGTGATGTCTGCTGACGAAGAAATCACTGCTCTGGGTTTAAAGAGCCCATCTCCCCCCAGCACATGCTCAAACACCATAGGAAGCTCCCCAAGAGCCTGTCTGTTCCCATGCTCAGACGCCATGCTGGAGTTCTTATGGATCACACCCAGTGTGTATTGTTACCAGATTCGACCCCTTCTATGTGCACCCTTCAGATCCATAAATACATGTATTCATTCAGTTATTTACTGAGCAGGCACTATAGACCAGGCGTGCTCTCTGCCATCCCACCAACAAATTAATAAGCCAAACCCCAGTTATTCTCCCATTGCACAGCCTCCATCCTTTCACCGTATCAC
Task1_train_3170
With a mutation on Chromosome 2 in gene DNMT3A (DNA methyltransferase 3 alpha), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Tatton-Brown-Rahman overgrowth syndrome
CTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCCTCATTTACCTTCTGGTGGCTCCAGGCCCTTAGGGCCAGAAGGCTGGAAGCCCCCCAGGGCCCATTCAATCATGGGCTTGTTCTGCACCTCCACGGCCTTGGCAGTGTCACTCTCATCGCTGTCGTGGCACACCGGGAACAGCTTCCCCGCGCGGCTGCTGGCCACCTGGAGGGTGACACGCCAGGGTTGGGGTTGTCAGGACAGGCTGGAAGGCAGATGGGTCAGGCTCAAGGCCAGACTCTGAGTAGTGAGGGTGGCACAGGCAAGATGGGGAGGAACCGCTGAGGAGGAGCGGGATGTGCATACGGGCGAGCGAGGTGGAGAGAAAGGAGTCGCTGCCTCCTGGGCCTCCGTTCTGCTCAAGCCCGACCTGCACTCCAACTTCCAGGCCTCCTAGTGCTCTAGGCTCCTCCTCCGAGCTCCCAGCAGGGACACTCACCTGCAGGACCTCGTAGATGGCTTTGCGGTACATGGGCTGCTTGTTGTACGTGGCCTGGTGGAACGCACTGCAAAACGAGCTCAGCGGCATCAGCTTCTCAACACACACCTGGGGGGACAAGCCAGGCCTTGTTTGCCGAGGCTTACACTTGCAAGCACCCACCCCATGCCTTGCAACTGGCAGGGGCTGGGAGCCTCGAGAGTCAGTCTCAGCCCTGGAGGGGACCAGATACAGTGATAAATAATTACCCGATGCAAAGAGGAGTCCAGACCAAGAGTAGGGAAGTACCTGAGTGCAGGTGGAAAGGAATTCTAGTGAATAGGTTCCTGGAAGGCTAAAACTGGGCCAGCATCCTAGCTCTCTGAGCCACAGGTGCAACCTAATTATCCCTACAGCTTCTTCCACCCACCACAGGCAGAGTAGGGGTGAGCAGAACCCACTTCCATCACCCCAATTCCAGACTGCCCCCAGCCAAAACCACAGGCCCTGGGATCAAGAACCTTCCCCCACCCCAGGCTACTGCCAAACCCCACAACTTACCACTGAGAATTTGCCGTCTCCGAACCACATGACCCAGCGGGTGCCTTCAGCTGCTCGGCTCCGGCCCGTCATCCACCAAGACACAATGCGGCCTGGCCACCAGGAGAAGCCCCGCAGTTTCCCCCACACCAGCTCCCCAATGCCAAAGCCCCGGCCGTCCTGGAGCCCCAAGGAGCAGAAATCATTACACAGTGGTCACGAGGCCCTGCCACCCTGATCCCCCCATGGCAACCCCAGCCCTGGGCATCTGGGGGGCAGGACAGCCAGGAGGGAGCTCCATCTGAATGAGGCAAGACAGAGCAAAATCGGGGAGACGAAGAGGCCCGGGGTCAGGTGGAGAGAGCGAGCGGCCCGTGGGAGATGGAGAGAGGAGAGCAGGACGGGAGGAGCTGGCAGTGGAAGGCCCCCGGAAAGAGCTGGCCACGGCTGGTGAAGAAGCCGCTCACCTCGTACTCTGGCTCGTCATCGCCTGCTTTGGTGGCATTCTTGTCCCCAGCATCGGACCCCACGGGCTCAGGCGTGGTAGCCACAGTGGGGGATGCGGGGTCAGTGGGCTGCTGCACAGCAGGAGGGCTGGCCTCCTCCACCTTCTGAGACTCCCCGGGCCCCTGGTTTTCTTCCACAGCATTCATTCCTGCAATGACCTTGGCTTTCTTCTCAGCCTGGGGAAACAAAAAACAAAAAGTCACCTTGACCTCTCCAGGAATTAGCAAGGCCACCTGACACTCAAGGGGACCATGTTTGTCAAAACCCGGAACAGTGACAGAAGGTCAAGGGCTGGAGAGAGCCAACCAGCTGCCTTGCCGTGAAAAATGGAAAGACTTGAAGTAGAGAGGTGAACTCAAGTCACACAATTCCAGCCTTCTTTTCTGCCTTTTAGGAAACCTTCCTCCCAGATCTAATCTTCCTCAATCTCATCAGCATATCGGTTGCCTACCCTATGATACGGAAATGTTATTTATTTATTTTTTTTTTTGGAGACAGAGTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCGCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATATTGACCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATTTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTAGCCTACGTTAATGTTTTTTTTTTAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATTCATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTAGCATTATACCGTATATCTCCTAATGCTATCCCTCCCCCTACCTATGGAGATGTTAATTCTATCCAAATATTAATCAGGCACTATTGTTTAGACACAGATATTGGTTCCACCCTCTCCTATCTTCTTAATCAAGACTAGGATCTTCAGCCAGGCATGTGCCTGTAATCCCAGTTACTGAGCAGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGTCACCAAAAATTTAAAAAGCAAGGGGGACCCTCTCTTCTTCTCCACAATTCCCCTGGGCAATCAATCCTTCCTATTCCTGGTTTCCAGGCCACAATTCTAGTTTTGTGATGTCTGCTGACGAAGAAATCACTGCTCTGGGTTTAAAGAGCCCATCTCCCCCCAGCACATGCTCAAACACCATAGGAAGCTCCCCAAGAGCCTGTCTGTTCCCATGCTCAGACGCCATGCTGGAGTTCTTATGGATCACACCCAGTGTGTATTGTTACCAGATTCGACCCCTTCTATGTGCACCCTTCAGATCCATAAATACATGTATTCATTCAGTTATTTACTGAGCAGGCACTATAGACCAGGCGTGCTCTCTGCCATCCCACCAACAAATTAATAAGCCAAACCCCAGTTATTCTCCCATTGCACAGCCTCCATCCTTTCACCGTATCACACTCGTCTTTCAGGCTACGATCCACGCGCCCATTCCTTCTCACAACCCGCTCCAGGATC
CTCAAGTCCTGACCCCTGCCCCAATCCTCCCAGGCCGAGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCCTCATTTACCTTCTGGTGGCTCCAGGCCCTTAGGGCCAGAAGGCTGGAAGCCCCCCAGGGCCCATTCAATCATGGGCTTGTTCTGCACCTCCACGGCCTTGGCAGTGTCACTCTCATCGCTGTCGTGGCACACCGGGAACAGCTTCCCCGCGCGGCTGCTGGCCACCTGGAGGGTGACACGCCAGGGTTGGGGTTGTCAGGACAGGCTGGAAGGCAGATGGGTCAGGCTCAAGGCCAGACTCTGAGTAGTGAGGGTGGCACAGGCAAGATGGGGAGGAACCGCTGAGGAGGAGCGGGATGTGCATACGGGCGAGCGAGGTGGAGAGAAAGGAGTCGCTGCCTCCTGGGCCTCCGTTCTGCTCAAGCCCGACCTGCACTCCAACTTCCAGGCCTCCTAGTGCTCTAGGCTCCTCCTCCGAGCTCCCAGCAGGGACACTCACCTGCAGGACCTCGTAGATGGCTTTGCGGTACATGGGCTGCTTGTTGTACGTGGCCTGGTGGAACGCACTGCAAAACGAGCTCAGCGGCATCAGCTTCTCAACACACACCTGGGGGGACAAGCCAGGCCTTGTTTGCCGAGGCTTACACTTGCAAGCACCCACCCCATGCCTTGCAACTGGCAGGGGCTGGGAGCCTCGAGAGTCAGTCTCAGCCCTGGAGGGGACCAGATACAGTGATAAATAATTACCCGATGCAAAGAGGAGTCCAGACCAAGAGTAGGGAAGTACCTGAGTGCAGGTGGAAAGGAATTCTAGTGAATAGGTTCCTGGAAGGCTAAAACTGGGCCAGCATCCTAGCTCTCTGAGCCACAGGTGCAACCTAATTATCCCTACAGCTTCTTCCACCCACCACAGGCAGAGTAGGGGTGAGCAGAACCCACTTCCATCACCCCAATTCCAGACTGCCCCCAGCCAAAACCACAGGCCCTGGGATCAAGAACCTTCCCCCACCCCAGGCTACTGCCAAACCCCACAACTTACCACTGAGAATTTGCCGTCTCCGAACCACATGACCCAGCGGGTGCCTTCAGCTGCTCGGCTCCGGCCCGTCATCCACCAAGACACATTGCGGCCTGGCCACCAGGAGAAGCCCCGCAGTTTCCCCCACACCAGCTCCCCAATGCCAAAGCCCCGGCCGTCCTGGAGCCCCAAGGAGCAGAAATCATTACACAGTGGTCACGAGGCCCTGCCACCCTGATCCCCCCATGGCAACCCCAGCCCTGGGCATCTGGGGGGCAGGACAGCCAGGAGGGAGCTCCATCTGAATGAGGCAAGACAGAGCAAAATCGGGGAGACGAAGAGGCCCGGGGTCAGGTGGAGAGAGCGAGCGGCCCGTGGGAGATGGAGAGAGGAGAGCAGGACGGGAGGAGCTGGCAGTGGAAGGCCCCCGGAAAGAGCTGGCCACGGCTGGTGAAGAAGCCGCTCACCTCGTACTCTGGCTCGTCATCGCCTGCTTTGGTGGCATTCTTGTCCCCAGCATCGGACCCCACGGGCTCAGGCGTGGTAGCCACAGTGGGGGATGCGGGGTCAGTGGGCTGCTGCACAGCAGGAGGGCTGGCCTCCTCCACCTTCTGAGACTCCCCGGGCCCCTGGTTTTCTTCCACAGCATTCATTCCTGCAATGACCTTGGCTTTCTTCTCAGCCTGGGGAAACAAAAAACAAAAAGTCACCTTGACCTCTCCAGGAATTAGCAAGGCCACCTGACACTCAAGGGGACCATGTTTGTCAAAACCCGGAACAGTGACAGAAGGTCAAGGGCTGGAGAGAGCCAACCAGCTGCCTTGCCGTGAAAAATGGAAAGACTTGAAGTAGAGAGGTGAACTCAAGTCACACAATTCCAGCCTTCTTTTCTGCCTTTTAGGAAACCTTCCTCCCAGATCTAATCTTCCTCAATCTCATCAGCATATCGGTTGCCTACCCTATGATACGGAAATGTTATTTATTTATTTTTTTTTTTGGAGACAGAGTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCGCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATATTGACCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATTTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTAGCCTACGTTAATGTTTTTTTTTTAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATTCATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTAGCATTATACCGTATATCTCCTAATGCTATCCCTCCCCCTACCTATGGAGATGTTAATTCTATCCAAATATTAATCAGGCACTATTGTTTAGACACAGATATTGGTTCCACCCTCTCCTATCTTCTTAATCAAGACTAGGATCTTCAGCCAGGCATGTGCCTGTAATCCCAGTTACTGAGCAGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGTCACCAAAAATTTAAAAAGCAAGGGGGACCCTCTCTTCTTCTCCACAATTCCCCTGGGCAATCAATCCTTCCTATTCCTGGTTTCCAGGCCACAATTCTAGTTTTGTGATGTCTGCTGACGAAGAAATCACTGCTCTGGGTTTAAAGAGCCCATCTCCCCCCAGCACATGCTCAAACACCATAGGAAGCTCCCCAAGAGCCTGTCTGTTCCCATGCTCAGACGCCATGCTGGAGTTCTTATGGATCACACCCAGTGTGTATTGTTACCAGATTCGACCCCTTCTATGTGCACCCTTCAGATCCATAAATACATGTATTCATTCAGTTATTTACTGAGCAGGCACTATAGACCAGGCGTGCTCTCTGCCATCCCACCAACAAATTAATAAGCCAAACCCCAGTTATTCTCCCATTGCACAGCCTCCATCCTTTCACCGTATCACACTCGTCTTTCAGGCTACGATCCACGCGCCCATTCCTTCTCACAACCCGCTCCAGGATC
Task1_train_3171
This genomic variant is located on Chromosome 2, within the DNMT3A (DNA methyltransferase 3 alpha) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Inborn genetic diseases
AGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCCTCATTTACCTTCTGGTGGCTCCAGGCCCTTAGGGCCAGAAGGCTGGAAGCCCCCCAGGGCCCATTCAATCATGGGCTTGTTCTGCACCTCCACGGCCTTGGCAGTGTCACTCTCATCGCTGTCGTGGCACACCGGGAACAGCTTCCCCGCGCGGCTGCTGGCCACCTGGAGGGTGACACGCCAGGGTTGGGGTTGTCAGGACAGGCTGGAAGGCAGATGGGTCAGGCTCAAGGCCAGACTCTGAGTAGTGAGGGTGGCACAGGCAAGATGGGGAGGAACCGCTGAGGAGGAGCGGGATGTGCATACGGGCGAGCGAGGTGGAGAGAAAGGAGTCGCTGCCTCCTGGGCCTCCGTTCTGCTCAAGCCCGACCTGCACTCCAACTTCCAGGCCTCCTAGTGCTCTAGGCTCCTCCTCCGAGCTCCCAGCAGGGACACTCACCTGCAGGACCTCGTAGATGGCTTTGCGGTACATGGGCTGCTTGTTGTACGTGGCCTGGTGGAACGCACTGCAAAACGAGCTCAGCGGCATCAGCTTCTCAACACACACCTGGGGGGACAAGCCAGGCCTTGTTTGCCGAGGCTTACACTTGCAAGCACCCACCCCATGCCTTGCAACTGGCAGGGGCTGGGAGCCTCGAGAGTCAGTCTCAGCCCTGGAGGGGACCAGATACAGTGATAAATAATTACCCGATGCAAAGAGGAGTCCAGACCAAGAGTAGGGAAGTACCTGAGTGCAGGTGGAAAGGAATTCTAGTGAATAGGTTCCTGGAAGGCTAAAACTGGGCCAGCATCCTAGCTCTCTGAGCCACAGGTGCAACCTAATTATCCCTACAGCTTCTTCCACCCACCACAGGCAGAGTAGGGGTGAGCAGAACCCACTTCCATCACCCCAATTCCAGACTGCCCCCAGCCAAAACCACAGGCCCTGGGATCAAGAACCTTCCCCCACCCCAGGCTACTGCCAAACCCCACAACTTACCACTGAGAATTTGCCGTCTCCGAACCACATGACCCAGCGGGTGCCTTCAGCTGCTCGGCTCCGGCCCGTCATCCACCAAGACACAATGCGGCCTGGCCACCAGGAGAAGCCCCGCAGTTTCCCCCACACCAGCTCCCCAATGCCAAAGCCCCGGCCGTCCTGGAGCCCCAAGGAGCAGAAATCATTACACAGTGGTCACGAGGCCCTGCCACCCTGATCCCCCCATGGCAACCCCAGCCCTGGGCATCTGGGGGGCAGGACAGCCAGGAGGGAGCTCCATCTGAATGAGGCAAGACAGAGCAAAATCGGGGAGACGAAGAGGCCCGGGGTCAGGTGGAGAGAGCGAGCGGCCCGTGGGAGATGGAGAGAGGAGAGCAGGACGGGAGGAGCTGGCAGTGGAAGGCCCCCGGAAAGAGCTGGCCACGGCTGGTGAAGAAGCCGCTCACCTCGTACTCTGGCTCGTCATCGCCTGCTTTGGTGGCATTCTTGTCCCCAGCATCGGACCCCACGGGCTCAGGCGTGGTAGCCACAGTGGGGGATGCGGGGTCAGTGGGCTGCTGCACAGCAGGAGGGCTGGCCTCCTCCACCTTCTGAGACTCCCCGGGCCCCTGGTTTTCTTCCACAGCATTCATTCCTGCAATGACCTTGGCTTTCTTCTCAGCCTGGGGAAACAAAAAACAAAAAGTCACCTTGACCTCTCCAGGAATTAGCAAGGCCACCTGACACTCAAGGGGACCATGTTTGTCAAAACCCGGAACAGTGACAGAAGGTCAAGGGCTGGAGAGAGCCAACCAGCTGCCTTGCCGTGAAAAATGGAAAGACTTGAAGTAGAGAGGTGAACTCAAGTCACACAATTCCAGCCTTCTTTTCTGCCTTTTAGGAAACCTTCCTCCCAGATCTAATCTTCCTCAATCTCATCAGCATATCGGTTGCCTACCCTATGATACGGAAATGTTATTTATTTATTTTTTTTTTTGGAGACAGAGTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCGCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATATTGACCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATTTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTAGCCTACGTTAATGTTTTTTTTTTAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATTCATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTAGCATTATACCGTATATCTCCTAATGCTATCCCTCCCCCTACCTATGGAGATGTTAATTCTATCCAAATATTAATCAGGCACTATTGTTTAGACACAGATATTGGTTCCACCCTCTCCTATCTTCTTAATCAAGACTAGGATCTTCAGCCAGGCATGTGCCTGTAATCCCAGTTACTGAGCAGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGTCACCAAAAATTTAAAAAGCAAGGGGGACCCTCTCTTCTTCTCCACAATTCCCCTGGGCAATCAATCCTTCCTATTCCTGGTTTCCAGGCCACAATTCTAGTTTTGTGATGTCTGCTGACGAAGAAATCACTGCTCTGGGTTTAAAGAGCCCATCTCCCCCCAGCACATGCTCAAACACCATAGGAAGCTCCCCAAGAGCCTGTCTGTTCCCATGCTCAGACGCCATGCTGGAGTTCTTATGGATCACACCCAGTGTGTATTGTTACCAGATTCGACCCCTTCTATGTGCACCCTTCAGATCCATAAATACATGTATTCATTCAGTTATTTACTGAGCAGGCACTATAGACCAGGCGTGCTCTCTGCCATCCCACCAACAAATTAATAAGCCAAACCCCAGTTATTCTCCCATTGCACAGCCTCCATCCTTTCACCGTATCACACTCGTCTTTCAGGCTACGATCCACGCGCCCATTCCTTCTCACAACCCGCTCCAGGATCCCTACAAAGGAGAATGAAATCCTTGATACTTAGCTCT
AGGGTCCTGAGCCAGATCCACCAGCACCAGGCTGAGGGCGACAGCCCCAGGATGAGAGAGGTGAGCAAAGGTGAAAGGCTGAAAGGGGACCTGTAGGTGAGTTCAGTCACACCCAAGAGGGGCTGCCCTTCTGTGGCCACTGGGGAGTCCCACACCCTGAAGACCAGCCCACGCCATTGACAGGAGAGCAGAATCATGGCACCAGAAAGACAGACAGTGCACGAAGCACGGTGAAGGTGGTGTGACACGCAGGACGTGGCCCCTGGTCCCATGTCATTCAAACCTTCCTAAGTGCCTCTGCTACTCTGCCCCATGCCACACTAGGAGTGCCAGAGTTCCCAGGCAACAAACTTACCCTCAATGTTCCGGCACTTCTGCCGCACCTCGTACACCAGCCGCTCTGCAAGGGGAGGAGAGCTGGCGTCAGAGGAGGCCGCGCCTGCTCCTCGGATGCAGGCCTCCTGGTGCCACCCTCTCCAGAAGCAGGCCAACTACCTCTTGTGCGCTCATCAATAATCTCCTTGACCTTGGGCTTCTCCGCTGTGCTCTTCCGGGGCTTTTTGGCTGGTGGAGGTGGTGCGTAGGCAGCTGCCTCAGGTTCCACCCACATGTCCGTGTACACTTCTTTGTAGGGATTCTTCTCTTCTGGAGGAGGAAAGCAGGTGCCAAGGTCAGTTACAGGCTGACAGGAAACTCCAGCCCCTTCCCCCACCCTCCTTACAGTGGGGTGCGGCCTGGTCTCCAACTTGTTCCCACCTCCCAACTCTACGGTTCTAGCCAACCAACAGAGAGCAGGTCATTCAAGTCCTGACCCCAGGGCAAGAGAGACCCCGGCTGTTCCCACTGGGCCCCTCTGTGGAGGCCTTGGCAGCCCTCCCTAAGCATGGCTTTCCCAGCCCTGGTGTGGATCTGCCTGGCGGGCAGGGGTCCCAGAAAGCTGGGTGCCCTCATTTACCTTCTGGTGGCTCCAGGCCCTTAGGGCCAGAAGGCTGGAAGCCCCCCAGGGCCCATTCAATCATGGGCTTGTTCTGCACCTCCACGGCCTTGGCAGTGTCACTCTCATCGCTGTCGTGGCACACCGGGAACAGCTTCCCCGCGCGGCTGCTGGCCACCTGGAGGGTGACACGCCAGGGTTGGGGTTGTCAGGACAGGCTGGAAGGCAGATGGGTCAGGCTCAAGGCCAGACTCTGAGTAGTGAGGGTGGCACAGGCAAGATGGGGAGGAACCGCTGAGGAGGAGCGGGATGTGCATACGGGCGAGCGAGGTGGAGAGAAAGGAGTCGCTGCCTCCTGGGCCTCCGTTCTGCTCAAGCCCGACCTGCACTCCAACTTCCAGGCCTCCTAGTGCTCTAGGCTCCTCCTCCGAGCTCCCAGCAGGGACACTCACCTGCAGGACCTCGTAGATGGCTTTGCGGTACATGGGCTGCTTGTTGTACGTGGCCTGGTGGAACGCACTGCAAAACGAGCTCAGCGGCATCAGCTTCTCAACACACACCTGGGGGGACAAGCCAGGCCTTGTTTGCCGAGGCTTACACTTGCAAGCACCCACCCCATGCCTTGCAACTGGCAGGGGCTGGGAGCCTCGAGAGTCAGTCTCAGCCCTGGAGGGGACCAGATACAGTGATAAATAATTACCCGATGCAAAGAGGAGTCCAGACCAAGAGTAGGGAAGTACCTGAGTGCAGGTGGAAAGGAATTCTAGTGAATAGGTTCCTGGAAGGCTAAAACTGGGCCAGCATCCTAGCTCTCTGAGCCACAGGTGCAACCTAATTATCCCTACAGCTTCTTCCACCCACCACAGGCAGAGTAGGGGTGAGCAGAACCCACTTCCATCACCCCAATTCCAGACTGCCCCCAGCCAAAACCACAGGCCCTGGGATCAAGAACCTTCCCCCACCCCAGGCTACTGCCAAACCCCACAACTTACCACTGAGAATTTGCCGTCTCCGAACCACATGACCCAGCGGGTGCCTTCAGCTGCTCGGCTCCGGCCCGTCATCCACCAAGACACAATGCGGCCTGGCCACCAGGAGAAGCCCCGCAGTTTCCACCACACCAGCTCCCCAATGCCAAAGCCCCGGCCGTCCTGGAGCCCCAAGGAGCAGAAATCATTACACAGTGGTCACGAGGCCCTGCCACCCTGATCCCCCCATGGCAACCCCAGCCCTGGGCATCTGGGGGGCAGGACAGCCAGGAGGGAGCTCCATCTGAATGAGGCAAGACAGAGCAAAATCGGGGAGACGAAGAGGCCCGGGGTCAGGTGGAGAGAGCGAGCGGCCCGTGGGAGATGGAGAGAGGAGAGCAGGACGGGAGGAGCTGGCAGTGGAAGGCCCCCGGAAAGAGCTGGCCACGGCTGGTGAAGAAGCCGCTCACCTCGTACTCTGGCTCGTCATCGCCTGCTTTGGTGGCATTCTTGTCCCCAGCATCGGACCCCACGGGCTCAGGCGTGGTAGCCACAGTGGGGGATGCGGGGTCAGTGGGCTGCTGCACAGCAGGAGGGCTGGCCTCCTCCACCTTCTGAGACTCCCCGGGCCCCTGGTTTTCTTCCACAGCATTCATTCCTGCAATGACCTTGGCTTTCTTCTCAGCCTGGGGAAACAAAAAACAAAAAGTCACCTTGACCTCTCCAGGAATTAGCAAGGCCACCTGACACTCAAGGGGACCATGTTTGTCAAAACCCGGAACAGTGACAGAAGGTCAAGGGCTGGAGAGAGCCAACCAGCTGCCTTGCCGTGAAAAATGGAAAGACTTGAAGTAGAGAGGTGAACTCAAGTCACACAATTCCAGCCTTCTTTTCTGCCTTTTAGGAAACCTTCCTCCCAGATCTAATCTTCCTCAATCTCATCAGCATATCGGTTGCCTACCCTATGATACGGAAATGTTATTTATTTATTTTTTTTTTTGGAGACAGAGTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCGCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATATTGACCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATTTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTAGCCTACGTTAATGTTTTTTTTTTAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATTCATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTAGCATTATACCGTATATCTCCTAATGCTATCCCTCCCCCTACCTATGGAGATGTTAATTCTATCCAAATATTAATCAGGCACTATTGTTTAGACACAGATATTGGTTCCACCCTCTCCTATCTTCTTAATCAAGACTAGGATCTTCAGCCAGGCATGTGCCTGTAATCCCAGTTACTGAGCAGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGTCACCAAAAATTTAAAAAGCAAGGGGGACCCTCTCTTCTTCTCCACAATTCCCCTGGGCAATCAATCCTTCCTATTCCTGGTTTCCAGGCCACAATTCTAGTTTTGTGATGTCTGCTGACGAAGAAATCACTGCTCTGGGTTTAAAGAGCCCATCTCCCCCCAGCACATGCTCAAACACCATAGGAAGCTCCCCAAGAGCCTGTCTGTTCCCATGCTCAGACGCCATGCTGGAGTTCTTATGGATCACACCCAGTGTGTATTGTTACCAGATTCGACCCCTTCTATGTGCACCCTTCAGATCCATAAATACATGTATTCATTCAGTTATTTACTGAGCAGGCACTATAGACCAGGCGTGCTCTCTGCCATCCCACCAACAAATTAATAAGCCAAACCCCAGTTATTCTCCCATTGCACAGCCTCCATCCTTTCACCGTATCACACTCGTCTTTCAGGCTACGATCCACGCGCCCATTCCTTCTCACAACCCGCTCCAGGATCCCTACAAAGGAGAATGAAATCCTTGATACTTAGCTCT
Task1_train_3172
Located on Chromosome 2, this mutation impacts GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; not specified
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
Task1_train_3173
A variant was discovered on Chromosome 2, affecting GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Mitochondrial trifunctional protein deficiency
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
Task1_train_3174
Mutation context: Chromosome 2, Gene GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
Task1_train_3175
The gene GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Mitochondrial trifunctional protein deficiency
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
Task1_train_3176
Consider this mutation in GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha) on Chromosome 2. Is this a benign change or a disease-causing variant?
Pathogenic; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
Task1_train_3177
The following genetic variant occurs in GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; HADHA-related disorder
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
Task1_train_3178
A mutation on Chromosome 2 affecting GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
Task1_train_3179
Assess the clinical impact of this variant on gene GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Mitochondrial trifunctional protein deficiency 1
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
Task1_train_3180
A genetic alteration is present in GAREM2, HADHA (GRB2 associated regulator of MAPK1 subtype 2| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Inborn genetic diseases
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTCCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
CTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAAAATCATTTTTGAAATCGCCAGTGATAAGGGCTCTGTGTTTAGAAAACTTTCTTCCACGAGGGCTTCTGTAACTCTTTGGTCTCAGGAACTGCTTAGAACTTTGTAACTAATGGTGCTAGTTATGTTTCCTTGAGGCTACTCACCTAGGAAGCCCTTGGACACCATCTGTGTCAGCAGTTCTGGGTTTCCACCTCCAAACCGCTCCCCAAAGACTTTGCCCAGATCTTCCGCCACATGTTTCGCTACATCCACACCAACTTCATCCACCAGTGTGGCGGCACCCACAGGAAAGCCAAAGCTTGTGGTCAGGGAATCCAGCTTCTTCGGGTCAACTCCTTCCTGAACAGGAAGCGATGCAGGGACCTCAGGGGAAGGGCAGCCCAAATCCCCCCAAAGGGCTCCCTGTACTGGCTCCAAACACTGCCTTGTGTAAAACCCACTTCTGAGTGTCACCTGACCAGGCCCAGGACTGGTGCTATTTCATTCAGGGAAGCACAAAGAAGTTTGGGGCCACAAGTGGAAAGTCTGAGCCTTCTCTAATCTACAGCACTTTAAGGACGTTTAGAGATGACTAAATTCTTCATTTTCTTCTTGTTTGCATTTCTGAATCTCAATAATAAGGAGATTGCATGACAGACGGCTGAGTGTGTCATGACCAACAGAAGAAACATCATCAAAGAGGAGCACTCAGAGCCCTGTGATCCCCAAGTCTGGGTAAGTGCCCAGCGAGGAGGATCCCTCTCCTTTCCTGCCAGAATGACCTCGATGGCTACTGGAGAGGTCTGTGTGCTGTGGAAACAGATGCAGCACCAGTTGAACCAAGCGGGCCCTGTTCTGGATGGTCCCTGCCTCAGAGAGGTGCAGAAACAGCATAGAAGACATGCTGGGGGGTGGGGTGCCTTTAGCTTGCTGGAACAGTGAGGAGGCTGTGGGGCAGAGGGAAAGCTCTGCCCCTTTCAGTGCAGTATAAGCCCAACTTCCGACTGCTGTGCAGAGAGAGGGCACCAGGGACCTTCCTAGACAAGAGCAGGAGTTGGTGTATCAGAAGGAAGCTTGGTCCTTATCTTGACATCATGAGTTTTAGAGTGACTGAAGGAGTGGAAGATGCCGCAAACACTCTGGAGAGCAATACCAACCTGGAGGATTCGGATGACTTCAGACATCATGGGCGCAAGACACCTGGTAGTATAGAAGCCAGGTCCATCCTGCCAAGGAAGAGAACATGAGCTCCCTGGCCCTGCTGCTGGGACTGAGTCTGAAACACTCTACCTTTCCCAGGGTCACTTCAAAGTCATTTGAAAGTCACTGTAAAACTTAAGGTGACTTAAAATCTCAATCAGAATCCTTAAAAATGAAATTGCAGGGGAAGCCGTACTAGGGGTAGCCTGGCTTGAATCAAACAGTACAGCAGATAGTTTCATGGTCACCTTCAAGGTCTGGGATGGCTGGGAGAACCCTGCCACATCCTAGATACTCCCCACTCCCACCTTGACTCAGTGGGACAGTCAATACCACCGTCCATCCTGGAGACAACCCAGGGGAAAATCATATCAAAGTCTGGTCATTTGCCCCAGAATATTTATAAACAAGCCTGGAGGTAAAAGGAGTCTTATTAGAACTTTTCAAAAACTCTGCAGCTCTGTTATACAGCCCCTTACCTTAACCACAATGATGACCTTCCCCTGCTTGAGACCAACTGCTACAGCTGAAGCACTGGTGTCTTTGGAAGTTTTCTCGGTCGTGATAATCTGCAGCAGCTGCATCTTGTCCACGGGAGAGAAGTAGTGCATGCCAATCACCTGGCAAGGGGAACCAAAAGCCAACAGATCGGAGAATGCGGGTGAGGAACCTGAGAGCATTCCTTCTCTGCTAGGAAAACACTAGAAAGAAAGGTGGCTGTGATATAGGAATACTGCTTGACATAGCTGAGTGGTTTGGTTCCATGGGTCTTTGATAAAAGTTTAGTATGTTTAGGGAGAGCACATTGGAATCCTCCTCTTCCATTTGCTTCTAAGGTTTTTCACTACAGACATCTGATCCTCCCAACAATCAGTGCCAAAACCACAGCTCGAGGCCAAACTAGATTTATTGGGGAACGACGGATGAAGGTTCCACTTATATTAATGATACTGATGGTTTAGATAAGAGGATCCAGTTTTTTTGGGCGGGGGTGGGGCAGGCAGAAGAATTAATGTGTTGGGCTGTCAGAGAAGTATTTGCATTTTACACAGATGGGTCTCACCACCAGGATACTAGGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCCCTCTCACTTTAGCTATAAGGTACAACAAGTGATATCTGTAATTTTTGGCTGCTCATTATCTACCTGCTCTTCAATACATTTACCACTTATTCCTTACATTTAATCCATTACAACCCTATGAACTGGTCAGCCTAATTATCTAGATGAGGAAAAAAGGTATCAAGAGGTTAGTAGTACAGAGTCAGTCAGCATATGACGGGGTGGGATTCCATCACAGGTCTGTCTATCTCCAATGCCATTATGTAATACACAGATCAAGTAAATGTTATGTAAACTTATCAATCCAAAAGTTGTTTCTAACCCCTAAAGTGTTCTTTTACTTACATCTGAAATACTTAGGACCTGATTCAGACTCAGTACTCCTGAGCAAAAGGAATTAGCCTTTATTGATGTAGAATTTCTATATAATAAAATGCACAGATCTTGAAGTGTTCACATCAATGAGTTTTGACAACTGTATATACATCCATATAATCACTAACCCAAGCAAAATATATTTACATCACTCAGAAAGTTGTGCCAAAGATGACCAACTCATCCTGGATGGCTGGGGATTTCCCAATTTGTGGCACTGAGGGTCCTGTATCCCTTGCTCCCGGGCAAACCAAGATGGTTGGTCACCCTATTTTGTCTTTTTGGCCTTACTTTTAAATGAATGACAAAAGGCAAGCAGGTGAGAAAAGCTGTCCTAGATACTTGGAGGGCAGAACTGCAAAGTGTGATGCTTGCTCTGCTCCGATGGCGGGGAGAGGTTACCATCAAATGAACAGCAACGGCATCGCCTGTACTGATTTTAGATGCCACACAGATGTCTTGAGTGATATGACATGGCCAGACTGTCCATCTGTAGACTATCGGCTGCAACTTCTCCCTATGACCTTTAGCCTGCCATCATTGAGCCTGCCTCTGTCAGGTCCCCGCATCACTTCTAATCTGCTGTGTGCTAGGAAACTAGATTACCTTGCATTAGCAAGCTAGAAGAGTAGGAATAAATAGGCTTTTGTGTTTTCAGTACATAGAATTTGTATTAACACTTTCAGCTGCTTAAAGTTCTTTTATAATTCCTGCCTACCTTCGGCTGGTTCTGGTTAGCAGAGGCTAACTGGTATCCTCCAGAGAAGTGAGTTGTTTTACTTCTCTTTGAATGATTTCACTTCCCCTTAATTACTCTGGTTGAGAGCAAAAATAAATTTCTGGGCATCATTCCAAATACTCACAGAAAG
Task1_train_3181
This is a variant in HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; Mitochondrial trifunctional protein deficiency
GCTCTTCACTTATTAGAACTGATGGAATGCGTTATTCATATGAAAGATTAATTTGTAAAGAGACAATAGATAAGGAATTCCAGTTATCATCCAAGGCAAGGGGGAAGGGGCCTAGAGAAATAATAGTGGAAGAATTACTGATAACTGGGAAAGCAGGAAGGGGGACACCCTATCTACAATGTTCATTATTCAATTTTCAGTTTAACATATTTTGCCTTGGGTATCTTATAGCTTATTCTTCATTTCTAAGATGATGCTAACTTTTTCTTCAATGTCTTTCCCAAGTTAGGTCAACTCCTATATTTATCCTGTTTTTCTGCCCATTTAGTTCTGAGTTTTTGAATTTTTGATTCAAGGCAGTTTTTTTTCTGATTTGCAAATGCTGATTTAAGAATATTTAAATCAAGTTCTGTTATAGTCTTCTTCTGCATTGTGGTTGTTTTTTGGGGGACAGAATTTTCATAAACTTCAGTATTCTGATTCTCATTTTCTCTTTTTTTCTTATATTAGCTTTTTGTGGGTGCTGTCTTTCTTTTTTGCATACTGACTACACAATACCACCTTTTCCAAGGGGTATTTTATTGTTACATGGAGATGTATACTACCTCCATACGACAATAAATGCTCAGGCAGGAGGAGTCTGGAGTTAATAAATTAAGACACTAGGTTTTTTAATTTAAGAGTACCCTCTTCTGTTGCAAAGTGCAGTTTCTTTAATTGACAGCATTCTTTGTGTACATGGAGGGATACGGTGGGGAGGGGTAGAAGTTGGTGTATCTAGGTTTTGTAATTTTGCAGGATGCTTCTCTGCCTTCTATTTATGCCGTGCACAGGGAATGGGTGGCTTTGTTTTCCTTATTAATCTGTTGATTTTTGTAGAATGTGTAAAGAGATACAGGTTTAAGTGGCCATAATTTTCCTCCTGCAACATGGAAGTAATTTACCCTGCTCATCGAATGCAAGGTACTATCAAGGTTAGGTGGAACAAATGCAATTGGCTCTTCAGATGGGATTGATAGCAGTCACTAAATGTTTGAGAGAAGCAGTTAAGGTTGTATTTCAGATTCTAATTGGAAATCAGCCCTCTTGGTTAGAATCTTACCTGTTTCACCCGGACTTCTTATCCATTTTATTTTGTATTTTGTATTTGTAATCTCATTAAAGGTGAGAGGATGGAGAAGGCAGTATCATTAGCTGCTTCTCTTAAATCCCCCACAGCAGTTCAGCTAGAACAGCTGAACCTCAGGACTACTGACATTTCGAACTGGATATTTCTTTATGGTGGGGACTATCTGTGCATTATAGGATGGTTAGCAGCATCCCTGGCCTCCACCCACAGATGCCAGTAGCATCCCTCCCTCCCTAGTTGTGACAACCAAAAATGTTCCCAGGCATTGTCAAATGTCCCCCTGGGAGGCAAAATTGTCCACGCTGAGAACCACAGAGCTACAAGTTGCATCATTAAACATAGACTCTGAAGAGCTATTAGGCAGCGTAATATGGAAAAAGGCTGGCTTATGGCAATACACATGAAAGAGGCAAACAGACTTTCCAATACTTAGGTTGTAAGCTAAAAGAAGGACAAGATTTTAACAATTACAATGAGGTTTTATGTTTTTTAATGAGGAAGAAGTGTGAGTTCCCAGAGATGACATCTCAAATCACAGGGAGAGAGATGATCATTGAACAGTGCAGAGGGAGTGTGTGGTTTGGGAAGGGGGACCTAAACCAGACTTCTAGGCAACATCAATATGTGACAAGAAAGCCTCTATAGGAATGACCAGAGGGGTTTGGAAAAAACTCAGAACAGGCAGAACTTTGAAAGCCAAAAAGTTTTTAGTAGACATAAGGGCTCAAATGTGCTCAGGAAAGAAGTTGAGGGCAAGACTGAATTAAGATACAGATCTAGCTCTGTAGATCTTCAAAGCCTCTGTGAACTTTGCACACAGTAAAATTCACAAGGGCTTCCTACGTAGAGTTTAACTTACTTAACATCCTTCTGTGGAGCTCCAAATTTATTCTTCTTGCACAGGACCTGACCATGGTAGAGTCCCATCAAGGCCTTTGATTCTTTGGTCATTACAAGCTCTCCAAATTTCTGAAAAGTAAAGGGGAATGAGAAAAGGTAGAACTTCACAGTCTAGGTTATATGGATTCCTTCAGTTCAGGTTCCTCTGAAGAGCAGAGGTAATGCATGTGAAGCCTGAGTCCCTGGGGATGCGGGGGAGTTTGGGGGTTCAGTGCTGCAGAAGTCTGTCTCTCACTGATGTGTCTTGTCTTTACTTGTCTTATCTGGAGCACTTTCCAACTACTGTGTTGAAGAAAGTTTTGGATATAACTAAGCTCTCAGATTCTTTACACCAGAGGTGTGGTAACCTTTTTCATAAAACTAGAGTCTCAGGGCCAAAATGAGCCTCCACAATCATCTCAAACCAACCCTCTCATTTTACAGATTGGGAAGAGGAGGTCCAAAGAAATGGAGTGACTTTGCTCAAGGCTATACTGCCTCAAAGTGGCAGAAATGGAACTTGAACCAAGACAGTATGACTCTGAACTCCAGTTCTTTTTTTTTGAGATGGAGTCTCGCACTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGCTACAGGTGCCCACCACCACGCCTGGCTAATTTTTTGTATCTGTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTCGCCTCGAACTCCGGTTCTTTTTCCACTGTAGCAGGCTGCCCACGTGGGACTTACCACTTTTAAAAGTAGCTTAATTTATGGAGAAAAAGTCTCAACTTGGTGGTTAAAGGCATAATATCTAGGATTTGACAGATCCTGTCTCTGCCACTGCCCCATTGTGAAGCTTTCTTCATCCTTAAAAATGGGAAAAACAATACCCATTTTACAGTATTGTTCTGGGGGATTAAATGAGAACACTAGTAAAATGACCAGGGTCTCAAGGTTAGCTATTATTAATATCACTAGGATATAATGGTAAGATTGCATGGTTACAAAGAGCATTTCAAAAGAATCCCTCTAATAAAGTTGCTTTCATGACCCAAAAGAACATAAAATGACAACACAATCAATGCTTTACTAATCTTGATACAGGATGTTTTATCTAATAAACCAGTGATTTTCAAACATGGGCAAAAGATTCATCAATGGTCAGAAATTTAGTGGGTGCCAATAAGCATTACATATATAAAAAGCGGAATACACAGAAAATACTGAGCACAATGCACACAGGACAGTTACTGATTCGTGAAACTTATTCCTCAATTTTTCTGTACGTATGTTTATGTGCACTTGGTTATATTTTTAAAAAATCAGAAATGCCCAATGAGACATCTAGTACCAGAAGTGTTTTTCTGGTACTTGTCCTGAGCTCTTCAGATTTTTTTTTTTGTCCTTTTACAGGTTGAGCATCCCTAATCTGAAAATCCAAAATCCAAAATGCTCCAAAATCCAACTTTTTGAGTGCCAACATGATGTCATGGGCAAGATATTACACATGTTATGAGCTGCAGTCAAAACTGTTTTATGTGAAAAATTATTAAAAATAATGTATGATATTACCATCAGGCTATGTGTATAAGGTGTATATGAAATTAATTTCATGTTTAGACTCTGATCCCATTCCCAAGATCTCTCATCATATATATGCAAATATTCCACTATCTGACAAAGTCTGAAATCTGAAATGTTTCTAGTCCCAAACATTTTGGATAAGAGATATTCAACTTTATAAAAGAGCAACCATTCTTCGATGATCGTTTAAAACTTAAAAACAAACACAAATCACTTAAATCTGCAACATCACCAAGTTGCTAGAAAAGTACACAGGTAAAGCTGGTACATACATCTCTTCTGTCTTCGTCTTTTAGTGGGTACAAGATACTTCCTTTCCTTTTCCAATTTACCAAAAAATTCAATTTCATCATCTC
GCTCTTCACTTATTAGAACTGATGGAATGCGTTATTCATATGAAAGATTAATTTGTAAAGAGACAATAGATAAGGAATTCCAGTTATCATCCAAGGCAAGGGGGAAGGGGCCTAGAGAAATAATAGTGGAAGAATTACTGATAACTGGGAAAGCAGGAAGGGGGACACCCTATCTACAATGTTCATTATTCAATTTTCAGTTTAACATATTTTGCCTTGGGTATCTTATAGCTTATTCTTCATTTCTAAGATGATGCTAACTTTTTCTTCAATGTCTTTCCCAAGTTAGGTCAACTCCTATATTTATCCTGTTTTTCTGCCCATTTAGTTCTGAGTTTTTGAATTTTTGATTCAAGGCAGTTTTTTTTCTGATTTGCAAATGCTGATTTAAGAATATTTAAATCAAGTTCTGTTATAGTCTTCTTCTGCATTGTGGTTGTTTTTTGGGGGACAGAATTTTCATAAACTTCAGTATTCTGATTCTCATTTTCTCTTTTTTTCTTATATTAGCTTTTTGTGGGTGCTGTCTTTCTTTTTTGCATACTGACTACACAATACCACCTTTTCCAAGGGGTATTTTATTGTTACATGGAGATGTATACTACCTCCATACGACAATAAATGCTCAGGCAGGAGGAGTCTGGAGTTAATAAATTAAGACACTAGGTTTTTTAATTTAAGAGTACCCTCTTCTGTTGCAAAGTGCAGTTTCTTTAATTGACAGCATTCTTTGTGTACATGGAGGGATACGGTGGGGAGGGGTAGAAGTTGGTGTATCTAGGTTTTGTAATTTTGCAGGATGCTTCTCTGCCTTCTATTTATGCCGTGCACAGGGAATGGGTGGCTTTGTTTTCCTTATTAATCTGTTGATTTTTGTAGAATGTGTAAAGAGATACAGGTTTAAGTGGCCATAATTTTCCTCCTGCAACATGGAAGTAATTTACCCTGCTCATCGAATGCAAGGTACTATCAAGGTTAGGTGGAACAAATGCAATTGGCTCTTCAGATGGGATTGATAGCAGTCACTAAATGTTTGAGAGAAGCAGTTAAGGTTGTATTTCAGATTCTAATTGGAAATCAGCCCTCTTGGTTAGAATCTTACCTGTTTCACCCGGACTTCTTATCCATTTTATTTTGTATTTTGTATTTGTAATCTCATTAAAGGTGAGAGGATGGAGAAGGCAGTATCATTAGCTGCTTCTCTTAAATCCCCCACAGCAGTTCAGCTAGAACAGCTGAACCTCAGGACTACTGACATTTCGAACTGGATATTTCTTTATGGTGGGGACTATCTGTGCATTATAGGATGGTTAGCAGCATCCCTGGCCTCCACCCACAGATGCCAGTAGCATCCCTCCCTCCCTAGTTGTGACAACCAAAAATGTTCCCAGGCATTGTCAAATGTCCCCCTGGGAGGCAAAATTGTCCACGCTGAGAACCACAGAGCTACAAGTTGCATCATTAAACATAGACTCTGAAGAGCTATTAGGCAGCGTAATATGGAAAAAGGCTGGCTTATGGCAATACACATGAAAGAGGCAAACAGACTTTCCAATACTTAGGTTGTAAGCTAAAAGAAGGACAAGATTTTAACAATTACAATGAGGTTTTATGTTTTTTAATGAGGAAGAAGTGTGAGTTCCCAGAGATGACATCTCAAATCACAGGGAGAGAGATGATCATTGAACAGTGCAGAGGGAGTGTGTGGTTTGGGAAGGGGGACCTAAACCAGACTTCTAGGCAACATCAATATGTGACAAGAAAGCCTCTATAGGAATGACCAGAGGGGTTTGGAAAAAACTCAGAACAGGCAGAACTTTGAAAGCCAAAAAGTTTTTAGTAGACATAAGGGCTCAAATGTGCTCAGGAAAGAAGTTGAGGGCAAGACTGAATTAAGATACAGATCTAGCTCTGTAGATCTTCAAAGCCTCTGTGAACTTTGCACACAGTAAAATTCACAAGGGCTTCCTACGTAGAGTTTAACTTACTTAACATCCTTCTGTGGAGCTCCAAATTTATTCTTCTTGCACAGGACCTGACCATGGTAGGGTCCCATCAAGGCCTTTGATTCTTTGGTCATTACAAGCTCTCCAAATTTCTGAAAAGTAAAGGGGAATGAGAAAAGGTAGAACTTCACAGTCTAGGTTATATGGATTCCTTCAGTTCAGGTTCCTCTGAAGAGCAGAGGTAATGCATGTGAAGCCTGAGTCCCTGGGGATGCGGGGGAGTTTGGGGGTTCAGTGCTGCAGAAGTCTGTCTCTCACTGATGTGTCTTGTCTTTACTTGTCTTATCTGGAGCACTTTCCAACTACTGTGTTGAAGAAAGTTTTGGATATAACTAAGCTCTCAGATTCTTTACACCAGAGGTGTGGTAACCTTTTTCATAAAACTAGAGTCTCAGGGCCAAAATGAGCCTCCACAATCATCTCAAACCAACCCTCTCATTTTACAGATTGGGAAGAGGAGGTCCAAAGAAATGGAGTGACTTTGCTCAAGGCTATACTGCCTCAAAGTGGCAGAAATGGAACTTGAACCAAGACAGTATGACTCTGAACTCCAGTTCTTTTTTTTTGAGATGGAGTCTCGCACTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGCTACAGGTGCCCACCACCACGCCTGGCTAATTTTTTGTATCTGTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTCGCCTCGAACTCCGGTTCTTTTTCCACTGTAGCAGGCTGCCCACGTGGGACTTACCACTTTTAAAAGTAGCTTAATTTATGGAGAAAAAGTCTCAACTTGGTGGTTAAAGGCATAATATCTAGGATTTGACAGATCCTGTCTCTGCCACTGCCCCATTGTGAAGCTTTCTTCATCCTTAAAAATGGGAAAAACAATACCCATTTTACAGTATTGTTCTGGGGGATTAAATGAGAACACTAGTAAAATGACCAGGGTCTCAAGGTTAGCTATTATTAATATCACTAGGATATAATGGTAAGATTGCATGGTTACAAAGAGCATTTCAAAAGAATCCCTCTAATAAAGTTGCTTTCATGACCCAAAAGAACATAAAATGACAACACAATCAATGCTTTACTAATCTTGATACAGGATGTTTTATCTAATAAACCAGTGATTTTCAAACATGGGCAAAAGATTCATCAATGGTCAGAAATTTAGTGGGTGCCAATAAGCATTACATATATAAAAAGCGGAATACACAGAAAATACTGAGCACAATGCACACAGGACAGTTACTGATTCGTGAAACTTATTCCTCAATTTTTCTGTACGTATGTTTATGTGCACTTGGTTATATTTTTAAAAAATCAGAAATGCCCAATGAGACATCTAGTACCAGAAGTGTTTTTCTGGTACTTGTCCTGAGCTCTTCAGATTTTTTTTTTTGTCCTTTTACAGGTTGAGCATCCCTAATCTGAAAATCCAAAATCCAAAATGCTCCAAAATCCAACTTTTTGAGTGCCAACATGATGTCATGGGCAAGATATTACACATGTTATGAGCTGCAGTCAAAACTGTTTTATGTGAAAAATTATTAAAAATAATGTATGATATTACCATCAGGCTATGTGTATAAGGTGTATATGAAATTAATTTCATGTTTAGACTCTGATCCCATTCCCAAGATCTCTCATCATATATATGCAAATATTCCACTATCTGACAAAGTCTGAAATCTGAAATGTTTCTAGTCCCAAACATTTTGGATAAGAGATATTCAACTTTATAAAAGAGCAACCATTCTTCGATGATCGTTTAAAACTTAAAAACAAACACAAATCACTTAAATCTGCAACATCACCAAGTTGCTAGAAAAGTACACAGGTAAAGCTGGTACATACATCTCTTCTGTCTTCGTCTTTTAGTGGGTACAAGATACTTCCTTTCCTTTTCCAATTTACCAAAAAATTCAATTTCATCATCTC
Task1_train_3182
This is a variant in HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; not specified
CTAGGCTTTGGATATTTTTTTCCTTTTTCAGCTTTATACAGAGGATTGGATCTTTAGTTTTCCTTTAACTGATAATAAAACATTGAAAGGAAATAAGTTTACCTGAGATTCACAGAGATAACCGGCATCACTCCCTTGCTCAATTCCAGTCTTTACCACCTAAAAAACATATAAAGCACTTGCTCAGCGTTGGAATAGATTGGCGAGATGTACAATAATGCTGAATAAAATTGCCAGTGTTGTTAGTCCTCAAAGAGTAAGTCAAAAGTCTAGACTGGAATGAGAAAGAGAAGAGGACTGAGGATCTGGCTGCTCTCGACTGACTTAATTCTCCATCTTTGAGGCTACTGCTAAATCTAGCATAACATGGCCATGAGAAGGAAAGACAAAGCTTGAATTACTCTTCCGGCTTCTCTCCTGATCTTCAAATGTAGGCAGATCCTCAACTTCCACTTTCAGCCCTTTTCACTCTCTACACTTTCTCCCTCAGATGCATGACCTAGTTTATCACATTAATGAACTCTACAAAATTCAATGTAACATTTGGGGTAAGTACTATCCTAAGTACAATGGCAAATATAAAAGATGAAAAAAATAACCCTGTACTTACTCACTATCATAATTTATGAGAATGACAAATTTTTAGAAATAAGCAAATTGACATCTCTAACTCTGACTTCTCTGTCTAAACTACTGTTGCTTGAATTTCCCAAAATATCTGAACTCAATATATCTGAACCTAACTCATAACCTCTCTTTGGCAAGCCTGTTGCTGCTTTCCTATTTTTACTATTCTATCTCAGGGCCTTATTCAAAGCTCAAGCCTGGATTATCAGGACAGTTTTGCTAATTCACTGCTCTACTTTGTCTCTCCTTCGAAACCATTTTTACCCACTACCATGAAAATGGCTCTCTAGAATCTTTATCGGACAAAGGTAAAATTTCTCAATTCATTATTACCAACCTTCTAAAATCCAGCTTCAATCTGCCTTTCTTCAGACTAACATCTCATTATCCCCCACAAATACTGGTCTCACTAATGTTCCTTGAAGAGCTTGTTTTCCAGCTTCCATAACTTTGCTCTAAATGCCCACCCTCCTTGGCAATACTTTCCCTCCTTCACCTATCCTCCACCCAGCTTTCAGGGTTGGGGTCAGATCCCATGAGGCACTTACTGATCTCTTTGTCTCATGGTAATTGTTGCCTCCTCTGTCCCACTCATCTGGCATTAATCTTATGCTGCCTTATATCTCTTAAAGGCTATCCACCTTAACACATATATATATCTAACTTCCCCAGTCCAGCCTGTGAGACGAAGGCAGGTGGGGGCATGTTTCATATTTTATGTGCTTTGGTGCCTTCTACTCAAGATATACTTGCTGACTGACCCATTCACCAATTCTGAAGTCTTTGGTTATATACTCTCTTAATCTTGGACTTTCCACACTGAAAAGTTCTAAGTTTTAAAGTCTACTGTTGGAGATTTCTTGAATCCTGTGATCATTTTAATTATTCTCATTGATCTTTTGCAGAGCTTCTCTACATCATTACATCTTTTTTATAATTACAGCAATGAAGAAGTCCTTGAGGGATTTTAGGTACTGACAATGATGTTGACCAAGAATAGAACAGAGCCATCAATTTTGTTTCAACTACTTTTTGGTTAGTGCCTGACACTCTAATGGCTTTGTGATACTGATATGACTTAGGTTCCTTTCCTGGTTTTCTGGTTTGTTACTGATACATTTAACTGCATCAATCAATGAGTAAGTCCAGCACTGATTTTCCCCAAATATATCACTTTATATGAGTCCTTACAGCTTGCTATGCCCTTCCCTTATTTTTGGTAAATACTTTAATAGCAGAATTAAGAAATTTAGTACTCAACATACATGGTCCAGAATGGCAATAAGGAGGAGTGATCTATATAAAGGAAGGAAATATGAGAAAAGTGGGAATATTGGGTAAGACTCACATCAATTATTTTCAGAGGTGCAGGATAAAGGCCTTTAGTCTGCTTTCGCACTTTTTCTTCCACTTTTTTGTAAACCTGTTGCCTGACAAATGGAATAGTCATGGCATACGCTGTCAATTCTGTAAAATAAAATGCTTTTAGATATTTACTATAAAGAGCCTAGATTCCCTTGTTAGTTTATGCTCTAAACTCTATAAAAATGAAGTAATTCTAGCTATCTGCAAGAACTGCTCTTTATTCTGATACACACAATATAAATTTCAACCTAAGCACTACCTTAAACATGCTAAGTGATGAATGTTAAAGCTGGGCCTTGGGTACATGAGTGTTTATAACACTGTTATCTAGTCTTTTTGTGTTCATGCTTAACATTTTCTAAAATGAAAAGTTTTCTATGACTCAAGGGTCATCATAAGGAAAAAAAAGGTTTTAAAAATTGGCTTTAACTGGATAGTGTAAAGTTGAGGAGTTGTTACATCTCCTACCTAAGGCTGACTTTATGCTTTGAGTAAATAATGCATTTACCACTTCCTCATTTTGAATCTACAGCAAATAAAATTAAATTCTCAGGAAAGAAGCTTTGCCTTTGTTCTTTAACAATGATACTCACTTTCCACCAATCCCTTGTCTCTCTTTGGAGAGATCTTCTTATCAGCTAGTCCTTTGGCAAAAGTAATTGCAACTTCTTCTAGGTATTCTATTGTCCGTTCCTCTGGAGGTTTTAGTCCTGGTCCTATAAAAATGAATGCAACACTGGAATGCAAATCAGGCTTAGACCAGTCCCAGGTAGTGAAAAACCCAGACTTGCCAAAGCCAAAGGCCCTAGCACAGCGTTCCATTTCAGACTGGAGACTGGTAGGTGGCAAAGTCATAAACCAAGAAGTCAAAGAAGGGAAATCACAATGAATAGAGGAGAAACAATATGCTCTAGGTAGAAAACGCGGTCTTTAACTGTTTCATTTGGTTTCCACTTCTGAGTAGAATGTAGTATGTAACACACACAAAAGGAATGCATTATGTCTACTGCAACCTGCATTCTTGCTGCAAAACTGGAAAGAAAAAAGAAGAAATCATGAAATCATTTGTAAAGACACTGGGGAGCTATGGAAGTAACAAGGACAACATGAACTAAAATTCTAGAGAGCAAGAGCCTATCTTAGCTGAACTGATGATTGCTGATCATTTTCTTTTCAGGGATGTGTAATGCTTTTGGGCATGGACTGAAGACTGGACTTGACTCAAGCAGAAGGAAAGTGAAACCATCAGAGTTTTTGGTGGTCATGTACAACAGATTAGAAGCTAGAAGAAACCAAGTGCAAAGCCAGTTTTCCCCAAGGAACATTTGTGAAAGTCTAAGATGGTACACAAGGAGGAAGGGGCTAGCTCAGAGAGGTTGAGTGAAATCTCTCATAGTATCATGATGTTTAATAGATAAGGTACTTCTATGGAGAAGGGGGCCTGAAACCAATATGCAACTGATTTTCCACGCAAGGCCTCTGCCAGATCTTGAACCTGCTTGGGGCAAGAGGTTACAGAGCTAGGCTCAAAAAATCTGAAGAACAAGTACAGTGGTTCATGCCTATAATCCCAGCACTTTGGAAGACTGACACAGGAGGATTGCTCAAGACCAGCCTGGGCAACATAGTGAGACCCCACCTCTATTTAAAAGGAATCCAAAGAACACAATTTATAGTGCTGTGAAAACAGACACCTACCAGGCTCTCAATCAAAAGTCTGTAAGAGCCACATTGGAGGAGGTGGCTGGGGTCAAAATGGCAATCTTGTGCAGTACTGTGGTACTTAGGAAACAAAATCCCAACTGAGGGAACCCATAGCAGACATACAACCAATCTCTCCCTTAAGACATTTGACCTATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTAACCTAGGCTGGAGTGCAGCAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATTACAGGTGCATGCCACTGTGCCCAGCTAAATTTTCTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTTGAATTCCTGACCTCAAATGATCT
CTAGGCTTTGGATATTTTTTTCCTTTTTCAGCTTTATACAGAGGATTGGATCTTTAGTTTTCCTTTAACTGATAATAAAACATTGAAAGGAAATAAGTTTACCTGAGATTCACAGAGATAACCGGCATCACTCCCTTGCTCAATTCCAGTCTTTACCACCTAAAAAACATATAAAGCACTTGCTCAGCGTTGGAATAGATTGGCGAGATGTACAATAATGCTGAATAAAATTGCCAGTGTTGTTAGTCCTCAAAGAGTAAGTCAAAAGTCTAGACTGGAATGAGAAAGAGAAGAGGACTGAGGATCTGGCTGCTCTCGACTGACTTAATTCTCCATCTTTGAGGCTACTGCTAAATCTAGCATAACATGGCCATGAGAAGGAAAGACAAAGCTTGAATTACTCTTCCGGCTTCTCTCCTGATCTTCAAATGTAGGCAGATCCTCAACTTCCACTTTCAGCCCTTTTCACTCTCTACACTTTCTCCCTCAGATGCATGACCTAGTTTATCACATTAATGAACTCTACAAAATTCAATGTAACATTTGGGGTAAGTACTATCCTAAGTACAATGGCAAATATAAAAGATGAAAAAAATAACCCTGTACTTACTCACTATCATAATTTATGAGAATGACAAATTTTTAGAAATAAGCAAATTGACATCTCTAACTCTGACTTCTCTGTCTAAACTACTGTTGCTTGAATTTCCCAAAATATCTGAACTCAATATATCTGAACCTAACTCATAACCTCTCTTTGGCAAGCCTGTTGCTGCTTTCCTATTTTTACTATTCTATCTCAGGGCCTTATTCAAAGCTCAAGCCTGGATTATCAGGACAGTTTTGCTAATTCACTGCTCTACTTTGTCTCTCCTTCGAAACCATTTTTACCCACTACCATGAAAATGGCTCTCTAGAATCTTTATCGGACAAAGGTAAAATTTCTCAATTCATTATTACCAACCTTCTAAAATCCAGCTTCAATCTGCCTTTCTTCAGACTAACATCTCATTATCCCCCACAAATACTGGTCTCACTAATGTTCCTTGAAGAGCTTGTTTTCCAGCTTCCATAACTTTGCTCTAAATGCCCACCCTCCTTGGCAATACTTTCCCTCCTTCACCTATCCTCCACCCAGCTTTCAGGGTTGGGGTCAGATCCCATGAGGCACTTACTGATCTCTTTGTCTCATGGTAATTGTTGCCTCCTCTGTCCCACTCATCTGGCATTAATCTTATGCTGCCTTATATCTCTTAAAGGCTATCCACCTTAACACATATATATATCTAACTTCCCCAGTCCAGCCTGTGAGACGAAGGCAGGTGGGGGCATGTTTCATATTTTATGTGCTTTGGTGCCTTCTACTCAAGATATACTTGCTGACTGACCCATTCACCAATTCTGAAGTCTTTGGTTATATACTCTCTTAATCTTGGACTTTCCACACTGAAAAGTTCTAAGTTTTAAAGTCTACTGTTGGAGATTTCTTGAATCCTGTGATCATTTTAATTATTCTCATTGATCTTTTGCAGAGCTTCTCTACATCATTACATCTTTTTTATAATTACAGCAATGAAGAAGTCCTTGAGGGATTTTAGGTACTGACAATGATGTTGACCAAGAATAGAACAGAGCCATCAATTTTGTTTCAACTACTTTTTGGTTAGTGCCTGACACTCTAATGGCTTTGTGATACTGATATGACTTAGGTTCCTTTCCTGGTTTTCTGGTTTGTTACTGATACATTTAACTGCATCAATCAATGAGTAAGTCCAGCACTGATTTTCCCCAAATATATCACTTTATATGAGTCCTTACAGCTTGCTATGCCCTTCCCTTATTTTTGGTAAATACTTTAATAGCAGAATTAAGAAATTTAGTACTCAACATACATGGTCCAGAATGGCAATAAGGAGGAGTGATCTATATAAAGGAAGGAAATATGAGAAAAGTGGGAATATTGGGTAAGACTCACATCAATTATTTTCAGAGGTGCAGGATAAAGGCCTTTAGTCTGCTTTCGCACTTTTTCTTCCACTTTTTTGTAATCCTGTTGCCTGACAAATGGAATAGTCATGGCATACGCTGTCAATTCTGTAAAATAAAATGCTTTTAGATATTTACTATAAAGAGCCTAGATTCCCTTGTTAGTTTATGCTCTAAACTCTATAAAAATGAAGTAATTCTAGCTATCTGCAAGAACTGCTCTTTATTCTGATACACACAATATAAATTTCAACCTAAGCACTACCTTAAACATGCTAAGTGATGAATGTTAAAGCTGGGCCTTGGGTACATGAGTGTTTATAACACTGTTATCTAGTCTTTTTGTGTTCATGCTTAACATTTTCTAAAATGAAAAGTTTTCTATGACTCAAGGGTCATCATAAGGAAAAAAAAGGTTTTAAAAATTGGCTTTAACTGGATAGTGTAAAGTTGAGGAGTTGTTACATCTCCTACCTAAGGCTGACTTTATGCTTTGAGTAAATAATGCATTTACCACTTCCTCATTTTGAATCTACAGCAAATAAAATTAAATTCTCAGGAAAGAAGCTTTGCCTTTGTTCTTTAACAATGATACTCACTTTCCACCAATCCCTTGTCTCTCTTTGGAGAGATCTTCTTATCAGCTAGTCCTTTGGCAAAAGTAATTGCAACTTCTTCTAGGTATTCTATTGTCCGTTCCTCTGGAGGTTTTAGTCCTGGTCCTATAAAAATGAATGCAACACTGGAATGCAAATCAGGCTTAGACCAGTCCCAGGTAGTGAAAAACCCAGACTTGCCAAAGCCAAAGGCCCTAGCACAGCGTTCCATTTCAGACTGGAGACTGGTAGGTGGCAAAGTCATAAACCAAGAAGTCAAAGAAGGGAAATCACAATGAATAGAGGAGAAACAATATGCTCTAGGTAGAAAACGCGGTCTTTAACTGTTTCATTTGGTTTCCACTTCTGAGTAGAATGTAGTATGTAACACACACAAAAGGAATGCATTATGTCTACTGCAACCTGCATTCTTGCTGCAAAACTGGAAAGAAAAAAGAAGAAATCATGAAATCATTTGTAAAGACACTGGGGAGCTATGGAAGTAACAAGGACAACATGAACTAAAATTCTAGAGAGCAAGAGCCTATCTTAGCTGAACTGATGATTGCTGATCATTTTCTTTTCAGGGATGTGTAATGCTTTTGGGCATGGACTGAAGACTGGACTTGACTCAAGCAGAAGGAAAGTGAAACCATCAGAGTTTTTGGTGGTCATGTACAACAGATTAGAAGCTAGAAGAAACCAAGTGCAAAGCCAGTTTTCCCCAAGGAACATTTGTGAAAGTCTAAGATGGTACACAAGGAGGAAGGGGCTAGCTCAGAGAGGTTGAGTGAAATCTCTCATAGTATCATGATGTTTAATAGATAAGGTACTTCTATGGAGAAGGGGGCCTGAAACCAATATGCAACTGATTTTCCACGCAAGGCCTCTGCCAGATCTTGAACCTGCTTGGGGCAAGAGGTTACAGAGCTAGGCTCAAAAAATCTGAAGAACAAGTACAGTGGTTCATGCCTATAATCCCAGCACTTTGGAAGACTGACACAGGAGGATTGCTCAAGACCAGCCTGGGCAACATAGTGAGACCCCACCTCTATTTAAAAGGAATCCAAAGAACACAATTTATAGTGCTGTGAAAACAGACACCTACCAGGCTCTCAATCAAAAGTCTGTAAGAGCCACATTGGAGGAGGTGGCTGGGGTCAAAATGGCAATCTTGTGCAGTACTGTGGTACTTAGGAAACAAAATCCCAACTGAGGGAACCCATAGCAGACATACAACCAATCTCTCCCTTAAGACATTTGACCTATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTAACCTAGGCTGGAGTGCAGCAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATTACAGGTGCATGCCACTGTGCCCAGCTAAATTTTCTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTTGAATTCCTGACCTCAAATGATCT
Task1_train_3183
This gene mutation involves HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
Pathogenic; Mitochondrial trifunctional protein deficiency
CATACCATTACTTGTAACATACTTTTTGGTTTATACATTCTGTGATATGGAGAGGGAGGCAGCTAGACAAGGATGTGAATACCAAGAGGTAGAGATTATTGGGGGGCAACTTGGAGGCTGGCTACCAAAGTCTTTGTTGGTAAATCTTGTGGGATTTTTTTGGTTTTGATTTTTTGTTGTTGTTGTTAAAACATGCTTCAAAATTAAGAAATTATAAAAGGTGTGTGATGACAAGTCTTCCACCCCTGACCCCTAGTTACCCAGTTCCCTTTCTTCCAGCCAACAATTATTTTTAACATCTTTATTATACTTCCAGGGGGATTTTATACTGATACAAGGAAATGTACATAATATTTTTCCTCTTTTAACATGAATGATAGCATGCTGTACAGCTATTTTGCACCTTGCTTTCTTCACTTAATGATACAGCTTAAAATGGTTCCGAATTGGTGCATAATCATTTCCTTACCTTTTACAGCTGCATAGTATTTCACAGGGGTGTTGTAGCATGGTTTACTTACCCATTTTCCTATTTTTTGGTTATTCTAATTTTTGACTATTACAGTAACAATATGGATTATGTCCTGTGTGTGAGTAATATCCATGAAGTCAGTTCATGGAAGTGGAATTGCTGGTTCAAACATTAGTTTCAGTTATAGTTTTCATGGATAATTACCAAATTGCCCTCCCCATGGACTGTGCCAGTTCTCTTGGCAGCAGTATATGAGAATATCTATTTGCACATACTCTTACCTACACAGAGTATATATCAAACCTTTGAATCTTTGCTACTTTGAGAGACAATTATATCTGTGGTTTTAATTTGAATTCTTCTTATGAGTGAAATTGAACATCTTTTCATATACTTAAGAACCATTTGTATTTCCTTTTCTGTGGTCTGTTCATATTCTGTGCCTATTTGTCTGCTAGTGTTTTCCTTAGTAATCTGTAGGAACTCATTGTTAGAAATTTAGTCTTTTTTGGAGGGGTGGGGGAAAGTTGTTAATATATTTTACATATTTTTTAACATATAGGGTTATTATATGTTTTACTTTTTTATTGTTTTGAAACAATACAGTATCAAACTTTGAAAAAGTTGCAAGTGCAGTACTACAAACTTTTTTTAGTAGCAGTTGAGATTAAGTTGCTGACATGATGCTTCACCATCCCTATTTAGTGTATATTCCCTTCAGATACAAACATTCCACAAAGCCTTCTACATAATCATAGTACAGCCTTCAGAATCGTGAAACTAATACTAATGGTTTTATTATCACGCCTAGCAGTCTCTCTGCTTCTTTGACCCTAAAGGAGAGGAGCACACACTCTAGAGGTAGACTTCCTAGGTTCAAATTCCAGCTCTGGGCCTGGTGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGATGGATCACCTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCATGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGACTGAACCTGGGAGGCAAAGATTGCAGTGAACCGAGATTGCACCACTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAAATTCCAGCTCTGCCACTCACTAGTTGTAGGTCTTTTGGCAAGTCACTCAATCCTACTATGCCTCAATTTCCTTATCTCTTACAAAGGATGTAATAATCATGCCTCCTTTGTAGGTCATTGTGAAGATTAGATGGTTAATGCTTAGAATAGTGGTTGCTGCAATGTGAAAACCATGTTGGTGTTCCTATCATAATAATATTATTAGATGAAGAATAGTTGATAAGATTAAGTTTTAATGTTTTCTAGTAGCCATGGATGAGGTTATCAGAGTTCATAGACTACAATGTAAACTACAAATTGTTCAGCTAATCCAGGATATACTTTTGTTCTTCTCTTTTTAGATTCCAGAATGACTATCTTGACTTACCCCTTTAAAAATCTTCCCACTGCATCAAAATGGGCCCTCAGATTTTGTAAGTTTATTATTATTTTTTTATTTTTAGAGATTGGATTTGGATTTATAAACATCTCGCACAGATACTGAATGGTATTGCTTTTTGTAAACAGTTTATTTTGTCTTCCAGCCATAAGACCTCTGAGCTGTTCCTCCCAGCTACGAGCTGCCCCAGGTACAGTAATTTGTAAAATAAATATTTCTGATTTAAATGTTAGATTCCAGATTCTATAGTTTGTGAACTCTGAATAAAAACCAAAACTAATTTGCTAATTCTCCCCTTTTTATGAGCACATGAACATCTCTGTTGCCTTCAAATTAAAAAATTATAGGTCCAATCAATAATGATACTACATTATTTAGGATTAGGCTTGAGGATGTTAATGGGAGGCTGTTTTCTGGGATTTGAACCTGCTGGAGTCATGGAGGTTCCATAAACCTCGTTGGTCAGTTTATTTATCCTCTTGCTGTCCGTCCTGGAGGTGAATGGCATACAAATGCTCTTGAGACCTGCTATGGAACCAAAAGTTAACTTTAAATTTGCAATTTGTGAAATGCTTCTCTATTGATGAATATCTTCTTCTCCCATGTGCAAGAGGGCCCATTCCTGAAATAGAAGTGATTAGGAACTAGTTAATAACAGAAAGTTGTTTAGTTAATATGAAATGAAAGAGTAAGGAAATGTGTTGATTTTATATGGTCATTTACACCCTTAGTAAACCCAATGAATTAGGCTTCTTTACTGCAGATTTTTGTAGAATCTGCTGTAGGTTTTTATCTTCACTGGCTAGTGCTAAAAACACCCTGACAAATTCTTAACATTTTTCTCCTTGCCTAGATTCTGTATTGACCCATGCCTTTGATTTTGGTTTTATTATGGTATTTCTACCTGTATAATAATAGAAAAAATACCTTCCAGGCTGGGTGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATGGCCTGAGGTCAGGAGTTTGAGACCAGCTTGGTCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACACGAGAATCTTTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGGTCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGGCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAATCCTGGGATTTGGTTCCCAGGATTCAGAAGACCTGTACTCTCTTCCAGCTCTACCTCTTTCTGGGCAGTGTGGCCTTGAACTGGTCACTTTACTTCCCTGTGCTTGGTTTCTTCATCTAAAAAAGGAATATATAATAAGTCTAGTCTTGTCAGCCTCATATAGTTATGAGATATCTCAAAGCACTTTAAAAACTATAAATTCACTGTAAGTGCAAGATGGTATTTTTCTATTATTGCCTAATCCCAACTAGAGAAGTTTCATATTGTCATATAACAAATATATTTCCTGTGGCCTTTACATTCTAACTAGAATATAGGTTTGTAGTAGCCCCATAAATAATTCCTGTCTGTCTTGTTTTGCCTTTTCCCTAATTCTAATGTTGACCCAGGTCTTTGCTTTGCAAAGTCACACAAATAGACCTGATCCTTGCCAAGTGGGAGAAGGTCATTCTGAATACCAGCAGAGGAAACCAAGTATCTGGTGTTTAAACTATTCCTTATATTGCTCTGTAACTGTTTCTGATGTTTGTGTCTCCCCAACTGTATTGTAAGCCCTGTGAGTCTTTAGCTTTTTGGTATCCCCAGTGTATAACATGGTGTTCCGCAAATATAACAGTGTCCCACAAGTAACTTGCATTAACGCTGATGATGATAGTGGTACCAGAAGGCACGTGATAAAACAATGGGAAGTGGCCAGCTGATTTGAGGGAGGAAGCAGGCATGTGCCTGTGCTGAGCAGGTTTTAGGTTGCAGTAATTTTTTTTTTGTTTTAA
CATACCATTACTTGTAACATACTTTTTGGTTTATACATTCTGTGATATGGAGAGGGAGGCAGCTAGACAAGGATGTGAATACCAAGAGGTAGAGATTATTGGGGGGCAACTTGGAGGCTGGCTACCAAAGTCTTTGTTGGTAAATCTTGTGGGATTTTTTTGGTTTTGATTTTTTGTTGTTGTTGTTAAAACATGCTTCAAAATTAAGAAATTATAAAAGGTGTGTGATGACAAGTCTTCCACCCCTGACCCCTAGTTACCCAGTTCCCTTTCTTCCAGCCAACAATTATTTTTAACATCTTTATTATACTTCCAGGGGGATTTTATACTGATACAAGGAAATGTACATAATATTTTTCCTCTTTTAACATGAATGATAGCATGCTGTACAGCTATTTTGCACCTTGCTTTCTTCACTTAATGATACAGCTTAAAATGGTTCCGAATTGGTGCATAATCATTTCCTTACCTTTTACAGCTGCATAGTATTTCACAGGGGTGTTGTAGCATGGTTTACTTACCCATTTTCCTATTTTTTGGTTATTCTAATTTTTGACTATTACAGTAACAATATGGATTATGTCCTGTGTGTGAGTAATATCCATGAAGTCAGTTCATGGAAGTGGAATTGCTGGTTCAAACATTAGTTTCAGTTATAGTTTTCATGGATAATTACCAAATTGCCCTCCCCATGGACTGTGCCAGTTCTCTTGGCAGCAGTATATGAGAATATCTATTTGCACATACTCTTACCTACACAGAGTATATATCAAACCTTTGAATCTTTGCTACTTTGAGAGACAATTATATCTGTGGTTTTAATTTGAATTCTTCTTATGAGTGAAATTGAACATCTTTTCATATACTTAAGAACCATTTGTATTTCCTTTTCTGTGGTCTGTTCATATTCTGTGCCTATTTGTCTGCTAGTGTTTTCCTTAGTAATCTGTAGGAACTCATTGTTAGAAATTTAGTCTTTTTTGGAGGGGTGGGGGAAAGTTGTTAATATATTTTACATATTTTTTAACATATAGGGTTATTATATGTTTTACTTTTTTATTGTTTTGAAACAATACAGTATCAAACTTTGAAAAAGTTGCAAGTGCAGTACTACAAACTTTTTTTAGTAGCAGTTGAGATTAAGTTGCTGACATGATGCTTCACCATCCCTATTTAGTGTATATTCCCTTCAGATACAAACATTCCACAAAGCCTTCTACATAATCATAGTACAGCCTTCAGAATCGTGAAACTAATACTAATGGTTTTATTATCACGCCTAGCAGTCTCTCTGCTTCTTTGACCCTAAAGGAGAGGAGCACACACTCTAGAGGTAGACTTCCTAGGTTCAAATTCCAGCTCTGGGCCTGGTGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGATGGATCACCTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCATGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGACTGAACCTGGGAGGCAAAGATTGCAGTGAACCGAGATTGCACCACTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAAATTCCAGCTCTGCCACTCACTAGTTGTAGGTCTTTTGGCAAGTCACTCAATCCTACTATGCCTCAATTTCCTTATCTCTTACAAAGGATGTAATAATCATGCCTCCTTTGTAGGTCATTGTGAAGATTAGATGGTTAATGCTTAGAATAGTGGTTGCTGCAATGTGAAAACCATGTTGGTGTTCCTATCATAATAATATTATTAGATGAAGAATAGTTGATAAGATTAAGTTTTAATGTTTTCTAGTAGCCATGGATGAGGTTATCAGAGTTCATAGACTACAATGTAAACTACAAATTGTTCAGCTAATCCAGGATATACTTTTGTTCTTCTCTTTTTAGATTCCAGAGTGACTATCTTGACTTACCCCTTTAAAAATCTTCCCACTGCATCAAAATGGGCCCTCAGATTTTGTAAGTTTATTATTATTTTTTTATTTTTAGAGATTGGATTTGGATTTATAAACATCTCGCACAGATACTGAATGGTATTGCTTTTTGTAAACAGTTTATTTTGTCTTCCAGCCATAAGACCTCTGAGCTGTTCCTCCCAGCTACGAGCTGCCCCAGGTACAGTAATTTGTAAAATAAATATTTCTGATTTAAATGTTAGATTCCAGATTCTATAGTTTGTGAACTCTGAATAAAAACCAAAACTAATTTGCTAATTCTCCCCTTTTTATGAGCACATGAACATCTCTGTTGCCTTCAAATTAAAAAATTATAGGTCCAATCAATAATGATACTACATTATTTAGGATTAGGCTTGAGGATGTTAATGGGAGGCTGTTTTCTGGGATTTGAACCTGCTGGAGTCATGGAGGTTCCATAAACCTCGTTGGTCAGTTTATTTATCCTCTTGCTGTCCGTCCTGGAGGTGAATGGCATACAAATGCTCTTGAGACCTGCTATGGAACCAAAAGTTAACTTTAAATTTGCAATTTGTGAAATGCTTCTCTATTGATGAATATCTTCTTCTCCCATGTGCAAGAGGGCCCATTCCTGAAATAGAAGTGATTAGGAACTAGTTAATAACAGAAAGTTGTTTAGTTAATATGAAATGAAAGAGTAAGGAAATGTGTTGATTTTATATGGTCATTTACACCCTTAGTAAACCCAATGAATTAGGCTTCTTTACTGCAGATTTTTGTAGAATCTGCTGTAGGTTTTTATCTTCACTGGCTAGTGCTAAAAACACCCTGACAAATTCTTAACATTTTTCTCCTTGCCTAGATTCTGTATTGACCCATGCCTTTGATTTTGGTTTTATTATGGTATTTCTACCTGTATAATAATAGAAAAAATACCTTCCAGGCTGGGTGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATGGCCTGAGGTCAGGAGTTTGAGACCAGCTTGGTCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACACGAGAATCTTTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGGTCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGGCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAATCCTGGGATTTGGTTCCCAGGATTCAGAAGACCTGTACTCTCTTCCAGCTCTACCTCTTTCTGGGCAGTGTGGCCTTGAACTGGTCACTTTACTTCCCTGTGCTTGGTTTCTTCATCTAAAAAAGGAATATATAATAAGTCTAGTCTTGTCAGCCTCATATAGTTATGAGATATCTCAAAGCACTTTAAAAACTATAAATTCACTGTAAGTGCAAGATGGTATTTTTCTATTATTGCCTAATCCCAACTAGAGAAGTTTCATATTGTCATATAACAAATATATTTCCTGTGGCCTTTACATTCTAACTAGAATATAGGTTTGTAGTAGCCCCATAAATAATTCCTGTCTGTCTTGTTTTGCCTTTTCCCTAATTCTAATGTTGACCCAGGTCTTTGCTTTGCAAAGTCACACAAATAGACCTGATCCTTGCCAAGTGGGAGAAGGTCATTCTGAATACCAGCAGAGGAAACCAAGTATCTGGTGTTTAAACTATTCCTTATATTGCTCTGTAACTGTTTCTGATGTTTGTGTCTCCCCAACTGTATTGTAAGCCCTGTGAGTCTTTAGCTTTTTGGTATCCCCAGTGTATAACATGGTGTTCCGCAAATATAACAGTGTCCCACAAGTAACTTGCATTAACGCTGATGATGATAGTGGTACCAGAAGGCACGTGATAAAACAATGGGAAGTGGCCAGCTGATTTGAGGGAGGAAGCAGGCATGTGCCTGTGCTGAGCAGGTTTTAGGTTGCAGTAATTTTTTTTTTGTTTTAA
Task1_train_3184
Assess the clinical impact of this variant on gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Mitochondrial trifunctional protein deficiency 2
TTTTTTTTTTTTAACACAGAACCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTACCATCATAGCTCACTGCAGGCTCAAACTCTTGAGCTCAAGAGATCATCCTGCCTTAGGATCCCAAGTAGCTGGGTCTACAGGTGCTCCACCACACCCAGCTAATTTTTAAATTTTTTGTGGAGACGGGATCTCGCCATGTTGCCCAGGCTGGTCTTAAACCTCTGGCCTCAAGTGATCCTTCTACCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTCATCCCAAAAAGTACTCTTAACAGAAGTAAAAGATTAGCACAGATCTCTATACTTGTGTTTTTTAAAAAGTAAGGTCAGGTTTAAAATTTGGGGGTTCTAACCGTAGTTAACCTCTTTTTTTGCTCTCCATACCTGAGGAACATTACCATTGGCGTGGTTCCTCTGTGAATAATGTGGCTGGCTGCAGCAGGGATTATCAACTGGAGGAGTGTATCTCTAGGAAGGTACTTCAGCATCTGAGGCATGAGTAAATAGTTTACAACCTGCCAGGCTTTCAACCTAGGTGCTTCAGATATGATATTTTCCCACAAAGATATGGTCTTCCTTCCTTCACCACTACCATACTTGTAAATCATTGCTTTAGATGGCACAGCTCTTTCCTTCACTTTCTCCTTACATCCTTGTCATTTTTATAAATCACTGAAAACCCCACTAACAAACTTTAGCAAAACTGTGGGATATTTTGTAGCATCAGCTCTTAGTGTGAGGAGGCAAGGAAGCCTGAAAGATTTAGTAATCATGTGCTCATCTAGTAACATCAAGGCCCAGGTGGGCACCCCACCTCATGTGTGGCGGGGAATGATGCCCGTGACTGGGGGCGTTCGCCACTCTAGGCAGCATGTGACCAACTCCTGGTTAGAGAAACAGAATACTGGCCAGTGGCCATAAGGAGAGAGGGGGCCTGCCTTACGTTTCAACAGCTGTAATTTCTCTGCTTTGCAGCAGAAGTTAACATTCTCTTTATAGGATAAAAAATCTTTATTAAAACTAAAGCTGGGAGCATATAAATATGCAAGATGTTCTGGTTTGGAATATGATTTGTTCAAGAGTTGGTCCAATGGATATTCCTAGAAGTTGACGTCCATATGGCAGGAATGAAACTTGTTTTTCTCTAACGTGTTGAATGTGTTTTTAGTCATTTAAGAAAATTACCTTAATTCTTCTGAAAAGTTGAAAACTTTAATTACAGATGTTGTACAAAGCTGATAACTGTCATTCAGCTTTTTAATCAAGAAGCTTAAATTGGAATGGTATGTTATTTTCTGTAAAAGATATTCATGAAGTATAACCTGTGCCCTGTAGGTGTTGGCTTGATTGCTTCTGGCCAGTGTGATGTGATCGTGGCAGGTGGTGTTGAGTTGATGTCCGATGTCCCTATTCGTCACTCAAGGAAAATGAGAAAACTGATGCTTGATCTCAATAAGGCCAAATCTATGGGCCAGCGACTGTCTTTAATCTCTAAATTCCGATTTAATTTCCTAGCACCTGAGGTAAGGCTTGTGTTTGCAGGGCATCCCACTGCAGAGATTTAGAATTAGGTATGGCAGTGTGGACTCTGCTATGCTGTAATAGGTGTAGATTCTGTAGTTACAGGAAAGGGTTAATTACTTGCTCAAGATGGAAAAAAAAGATAGTGGTTAGAAAACTTTAATTTGTGAGCCCTCTTTAGAGATCCTCTTTAGAGATCCTCTGCTTGTCTTGGACTTGATTGATTAATGGTAGACAAATAGATTTTAACTTTTCCAAATAACACAGAACAATCCTAGGTGTTAGCATAACACCGGTTAACAGTGTACCTGCTCCTTGGATATCTCCTTTCCCAGCTCCCTGCGGTTTCTGAGTTCTCCACCAGTGAGACCATGGGCCACTCTGCAGACCGACTGGCCGCTGCCTTTGCTGTTTCTCGGCTGGAACAGGATGAATATGCACTGCGCTCTCACAGTCTAGCCAAGAAGGCACAGGATGAAGGACTCCTTTCTGATGTGGTACCCTTCAAAGTACCAGGTGAAATGAAATGCTTCATGACACTTATTAGGGAGTTCTGAATTGCTCCTAAAACTCAAAAACATCCCGAGTGATTTTTCCATAAGTATGTTGGTTCTGTTTCCAAAGTATTCAGCCTTTATTCTTAAATATGGATGCAAATTTTGATTTATGTTGTAACAATAGGTTAACATTTTTTAATGTTTCTATAAGAGTGTCCTTTTAAGATCTGAGCACTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGTCAACAGCGTGAGACTTCATCTCTAATTAAAAAAAAAAAAAAGAAAAACAGAGTCTCCTTTTAGATCTTGCTGATATATTTTAGTTCTTACATACATGCCTGTTTTTAAAATTCCTGAATCGTCTGACTTCTGTATAGAATAGCCAACTGTGAATGAATGTCTTAAGAAAATAGGGTGTCCTATTTTTAGTAAAGCATTTAGATGATTTCCCAATTGTCTTTTAAGACTTTAGTTTAAAATTTGATAATATGATAATTATAAAACACTTTCCTTCTAGTGAATAGGTAAGGTTTATATTTCATTTGTTTTTGTAATTTTTAAAGCATATTTCTGTGGAGAAGATATATAAGGCTTGTGGTTCCATAGAGTTAAAAAAATTCATTTTTTTAATAGGAAAAGATACAGTTACCAAAGATAATGGCATCCGTCCTTCCTCACTGGAGCAGATGGCCAAACTAAAACCTGCATTCATCAAGCCCTACGGCACAGTGACAGCTGCAAATTCTTCTTTCTTGGTAACTGTCAATGTTATTTGTATTTAGTAGTGACTTTTCTATTTCTGTACTCTCTGTAGAAAAGCCTAATATAACTTTTTGTGTGTGTTATGAATAGAGGGTTAAAAATATAGTTATTCATTTTAATGTGAAAGTGGAGTCATTAAAAAAAAAATAGAATCACGGTTTTAAGGCCCGAGAAGTCACCTAATCCAGCCACCATTCTGCCACAAAAGCTCTTCCTTTCAGGCACTTAACCAGTCAAAAACTTCTATTGCTTATGGTGGGCCCTGGAAATGAAAAGAATAGACAATTGCAATATAGTGAGATGCTGTGATGGCTGTAAGGCTTAGGTCGAACCCCTGACCCAGATGGGGGGACAGTCAGAGAGTCTTCTTGGAAGAGGTAACACTTGAGCAGCAAATCTTGAAGGAAGAGTAAAAGCCAACTCAGGAAGGATTTTAAAAGGCATTTCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGAGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTTAATCCCGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCCTGGAGGCGTGGAGGTTGCGGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGCACAAGAGCGAAACTCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCATTTTGGACAAAGGGAATAGCAAATGCAAAATCAAGGAAGTATGAGAGCAAGGGGTTCTTTGGGGAAAAGTTAGGTTGGAGCATAAGGTATGAACTGGGAAGTCGCAGAAGACAAGGAAAAGCAGGCAGAAAGAGTAACAGGATACCTCTTCCAGCCCTGATTGTTAGAAAACTGCTTTACACTGACCCCAATATTATTTTCCTGTAAGCATCATGGAACAAATCTACCACTGTTTGTTTTGTGTTTTTTTTTTAACTTATCAACATGTAGCTTCATATCCTTCCATGCTTTTCTGACTCCTCAATTAAACATCTTTATTGATTCTGCTGCTGCTTGTAAGATGTGATTTCTCTTCTCTTACCACCTTGGGTATAGTCTTCTGGATATAGGCCATCTGGTCAGAGTTTCTCTTACAATGTAACTCTCCTACCTGGCCATAAAGTCTTGAAAACAT
TTTTTTTTTTTTAACACAGAACCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTACCATCATAGCTCACTGCAGGCTCAAACTCTTGAGCTCAAGAGATCATCCTGCCTTAGGATCCCAAGTAGCTGGGTCTACAGGTGCTCCACCACACCCAGCTAATTTTTAAATTTTTTGTGGAGACGGGATCTCGCCATGTTGCCCAGGCTGGTCTTAAACCTCTGGCCTCAAGTGATCCTTCTACCTCAGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTCATCCCAAAAAGTACTCTTAACAGAAGTAAAAGATTAGCACAGATCTCTATACTTGTGTTTTTTAAAAAGTAAGGTCAGGTTTAAAATTTGGGGGTTCTAACCGTAGTTAACCTCTTTTTTTGCTCTCCATACCTGAGGAACATTACCATTGGCGTGGTTCCTCTGTGAATAATGTGGCTGGCTGCAGCAGGGATTATCAACTGGAGGAGTGTATCTCTAGGAAGGTACTTCAGCATCTGAGGCATGAGTAAATAGTTTACAACCTGCCAGGCTTTCAACCTAGGTGCTTCAGATATGATATTTTCCCACAAAGATATGGTCTTCCTTCCTTCACCACTACCATACTTGTAAATCATTGCTTTAGATGGCACAGCTCTTTCCTTCACTTTCTCCTTACATCCTTGTCATTTTTATAAATCACTGAAAACCCCACTAACAAACTTTAGCAAAACTGTGGGATATTTTGTAGCATCAGCTCTTAGTGTGAGGAGGCAAGGAAGCCTGAAAGATTTAGTAATCATGTGCTCATCTAGTAACATCAAGGCCCAGGTGGGCACCCCACCTCATGTGTGGCGGGGAATGATGCCCGTGACTGGGGGCGTTCGCCACTCTAGGCAGCATGTGACCAACTCCTGGTTAGAGAAACAGAATACTGGCCAGTGGCCATAAGGAGAGAGGGGGCCTGCCTTACGTTTCAACAGCTGTAATTTCTCTGCTTTGCAGCAGAAGTTAACATTCTCTTTATAGGATAAAAAATCTTTATTAAAACTAAAGCTGGGAGCATATAAATATGCAAGATGTTCTGGTTTGGAATATGATTTGTTCAAGAGTTGGTCCAATGGATATTCCTAGAAGTTGACGTCCATATGGCAGGAATGAAACTTGTTTTTCTCTAACGTGTTGAATGTGTTTTTAGTCATTTAAGAAAATTACCTTAATTCTTCTGAAAAGTTGAAAACTTTAATTACAGATGTTGTACAAAGCTGATAACTGTCATTCAGCTTTTTAATCAAGAAGCTTAAATTGGAATGGTATGTTATTTTCTGTAAAAGATATTCATGAAGTATAACCTGTGCCCTGTAGGTGTTGGCTTGATTGCTTCTGGCCAGTGTGATGTGATCGTGGCAGGTGGTGTTGAGTTGATGTCCGATGTCCCTATTCGTCACTCAAGGAAAATGAGAAAACTGATGCTTGATCTCAATAAGGCCAAATCTATGGGCCAGCGACTGTCTTTAATCTCTAAATTCCGATTTAATTTCCTAGCACCTGAGGTAAGGCTTGTGTTTGCAGGGCATCCCACTGCAGAGATTTAGAATTAGGTATGGCAGTGTGGACTCTGCTATGCTGTAATAGGTGTAGATTCTGTAGTTACAGGAAAGGGTTAATTACTTGCTCAAGATGGAAAAAAAAGATAGTGGTTAGAAAACTTTAATTTGTGAGCCCTCTTTAGAGATCCTCTTTAGAGATCCTCTGCTTGTCTTGGACTTGATTGATTAATGGTAGACAAATAGATTTTAACTTTTCCAAATAACACAGAACAATCCTAGGTGTTAGCATAACACCGGTTAACAGTGTACCTGCTCCTTGGATATCTCCTTTCCCAGCTCCCTGCGGTTTCTGAGTTCTCCACCAGTGAGACCATGGGCCACTCTGCAGACCGACTGGCCGCTGCCTTTGCTGTTTCTCGGCTGGAACAGGATGAATATGCACTGCGCTCTCACAGTCTAGCCAAGAAGGCACAGGATGAAGGACTCCTTTCTGGTGTGGTACCCTTCAAAGTACCAGGTGAAATGAAATGCTTCATGACACTTATTAGGGAGTTCTGAATTGCTCCTAAAACTCAAAAACATCCCGAGTGATTTTTCCATAAGTATGTTGGTTCTGTTTCCAAAGTATTCAGCCTTTATTCTTAAATATGGATGCAAATTTTGATTTATGTTGTAACAATAGGTTAACATTTTTTAATGTTTCTATAAGAGTGTCCTTTTAAGATCTGAGCACTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGTCAACAGCGTGAGACTTCATCTCTAATTAAAAAAAAAAAAAAGAAAAACAGAGTCTCCTTTTAGATCTTGCTGATATATTTTAGTTCTTACATACATGCCTGTTTTTAAAATTCCTGAATCGTCTGACTTCTGTATAGAATAGCCAACTGTGAATGAATGTCTTAAGAAAATAGGGTGTCCTATTTTTAGTAAAGCATTTAGATGATTTCCCAATTGTCTTTTAAGACTTTAGTTTAAAATTTGATAATATGATAATTATAAAACACTTTCCTTCTAGTGAATAGGTAAGGTTTATATTTCATTTGTTTTTGTAATTTTTAAAGCATATTTCTGTGGAGAAGATATATAAGGCTTGTGGTTCCATAGAGTTAAAAAAATTCATTTTTTTAATAGGAAAAGATACAGTTACCAAAGATAATGGCATCCGTCCTTCCTCACTGGAGCAGATGGCCAAACTAAAACCTGCATTCATCAAGCCCTACGGCACAGTGACAGCTGCAAATTCTTCTTTCTTGGTAACTGTCAATGTTATTTGTATTTAGTAGTGACTTTTCTATTTCTGTACTCTCTGTAGAAAAGCCTAATATAACTTTTTGTGTGTGTTATGAATAGAGGGTTAAAAATATAGTTATTCATTTTAATGTGAAAGTGGAGTCATTAAAAAAAAAATAGAATCACGGTTTTAAGGCCCGAGAAGTCACCTAATCCAGCCACCATTCTGCCACAAAAGCTCTTCCTTTCAGGCACTTAACCAGTCAAAAACTTCTATTGCTTATGGTGGGCCCTGGAAATGAAAAGAATAGACAATTGCAATATAGTGAGATGCTGTGATGGCTGTAAGGCTTAGGTCGAACCCCTGACCCAGATGGGGGGACAGTCAGAGAGTCTTCTTGGAAGAGGTAACACTTGAGCAGCAAATCTTGAAGGAAGAGTAAAAGCCAACTCAGGAAGGATTTTAAAAGGCATTTCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGAGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTTAATCCCGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCCTGGAGGCGTGGAGGTTGCGGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGCACAAGAGCGAAACTCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCATTTTGGACAAAGGGAATAGCAAATGCAAAATCAAGGAAGTATGAGAGCAAGGGGTTCTTTGGGGAAAAGTTAGGTTGGAGCATAAGGTATGAACTGGGAAGTCGCAGAAGACAAGGAAAAGCAGGCAGAAAGAGTAACAGGATACCTCTTCCAGCCCTGATTGTTAGAAAACTGCTTTACACTGACCCCAATATTATTTTCCTGTAAGCATCATGGAACAAATCTACCACTGTTTGTTTTGTGTTTTTTTTTTAACTTATCAACATGTAGCTTCATATCCTTCCATGCTTTTCTGACTCCTCAATTAAACATCTTTATTGATTCTGCTGCTGCTTGTAAGATGTGATTTCTCTTCTCTTACCACCTTGGGTATAGTCTTCTGGATATAGGCCATCTGGTCAGAGTTTCTCTTACAATGTAACTCTCCTACCTGGCCATAAAGTCTTGAAAACAT
Task1_train_3185
Chromosome 2 houses a mutation in gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Mitochondrial trifunctional protein deficiency
TGGTGCATCTGCAATGTTAATCATGGCGGAGGAAAAGGCTCTGGCCATGGGTTATAAGCCGAAGGCATATTTGAGGTAAAGTAAATGTTCAAACAAATCATCTCTGATTTCTTTATTTTATTACCAAAGCTCACCTCTCTATTTTTTTACCTAGGGATTTTATGTATGTGTCTCAGGATCCAAAAGATCAACTATTACTTGGGTAGGTAGCAGTTTGTATCCTTGGACTATAATCACAAGTATTTGATTGCCTATGTTTTATTATACTGGTTAATAAATGATTAACACTGGTTTATTATTTATTTGTTTATTACACTGGTTTGAGAGTATATTAAGCCCTGAGTTCATAATTGGTTTATGTGGTGGTTTTTTTAAAAAAAATAATAGTAATCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAGCCCTATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGTTTTGGCAAGAGAATGGCATGAACCCGAGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCT
TGGTGCATCTGCAATGTTAATCATGGCGGAGGAAAAGGCTCTGGCCATGGGTTATAAGCCGAAGGCATATTTGAGGTAAAGTAAATGTTCAAACAAATCATCTCTGATTTCTTTATTTTATTACCAAAGCTCACCTCTCTATTTTTTTACCTAGGGATTTTATGTATGTGTCTCAGGATCCAAAAGATCAACTATTACTTGGGTAGGTAGCAGTTTGTATCCTTGGACTATAATCACAAGTATTTGATTGCCTATGTTTTATTATACTGGTTAATAAATGATTAACACTGGTTTATTATTTATTTGTTTATTACACTGGTTTGAGAGTATATTAAGCCCTGAGTTCATAATTGGTTTATGTGGTGGTTTTTTTAAAAAAAATAATAGTAATCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAGCCCTATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGTTTTGGCAAGAGAATGGCATGAACCCGAGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAGATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCT
Task1_train_3186
A variant affecting Chromosome 2, within the gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Mitochondrial trifunctional protein deficiency 1
TGGTGCATCTGCAATGTTAATCATGGCGGAGGAAAAGGCTCTGGCCATGGGTTATAAGCCGAAGGCATATTTGAGGTAAAGTAAATGTTCAAACAAATCATCTCTGATTTCTTTATTTTATTACCAAAGCTCACCTCTCTATTTTTTTACCTAGGGATTTTATGTATGTGTCTCAGGATCCAAAAGATCAACTATTACTTGGGTAGGTAGCAGTTTGTATCCTTGGACTATAATCACAAGTATTTGATTGCCTATGTTTTATTATACTGGTTAATAAATGATTAACACTGGTTTATTATTTATTTGTTTATTACACTGGTTTGAGAGTATATTAAGCCCTGAGTTCATAATTGGTTTATGTGGTGGTTTTTTTAAAAAAAATAATAGTAATCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAGCCCTATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGTTTTGGCAAGAGAATGGCATGAACCCGAGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCT
TGGTGCATCTGCAATGTTAATCATGGCGGAGGAAAAGGCTCTGGCCATGGGTTATAAGCCGAAGGCATATTTGAGGTAAAGTAAATGTTCAAACAAATCATCTCTGATTTCTTTATTTTATTACCAAAGCTCACCTCTCTATTTTTTTACCTAGGGATTTTATGTATGTGTCTCAGGATCCAAAAGATCAACTATTACTTGGGTAGGTAGCAGTTTGTATCCTTGGACTATAATCACAAGTATTTGATTGCCTATGTTTTATTATACTGGTTAATAAATGATTAACACTGGTTTATTATTTATTTGTTTATTACACTGGTTTGAGAGTATATTAAGCCCTGAGTTCATAATTGGTTTATGTGGTGGTTTTTTTAAAAAAAATAATAGTAATCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAGCCCTATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGTTTTGGCAAGAGAATGGCATGAACCCGAGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAGATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCT
Task1_train_3187
This gene mutation involves HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
Pathogenic; Mitochondrial trifunctional protein deficiency
GCAATGTTAATCATGGCGGAGGAAAAGGCTCTGGCCATGGGTTATAAGCCGAAGGCATATTTGAGGTAAAGTAAATGTTCAAACAAATCATCTCTGATTTCTTTATTTTATTACCAAAGCTCACCTCTCTATTTTTTTACCTAGGGATTTTATGTATGTGTCTCAGGATCCAAAAGATCAACTATTACTTGGGTAGGTAGCAGTTTGTATCCTTGGACTATAATCACAAGTATTTGATTGCCTATGTTTTATTATACTGGTTAATAAATGATTAACACTGGTTTATTATTTATTTGTTTATTACACTGGTTTGAGAGTATATTAAGCCCTGAGTTCATAATTGGTTTATGTGGTGGTTTTTTTAAAAAAAATAATAGTAATCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAGCCCTATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGTTTTGGCAAGAGAATGGCATGAACCCGAGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAA
GCAATGTTAATCATGGCGGAGGAAAAGGCTCTGGCCATGGGTTATAAGCCGAAGGCATATTTGAGGTAAAGTAAATGTTCAAACAAATCATCTCTGATTTCTTTATTTTATTACCAAAGCTCACCTCTCTATTTTTTTACCTAGGGATTTTATGTATGTGTCTCAGGATCCAAAAGATCAACTATTACTTGGGTAGGTAGCAGTTTGTATCCTTGGACTATAATCACAAGTATTTGATTGCCTATGTTTTATTATACTGGTTAATAAATGATTAACACTGGTTTATTATTTATTTGTTTATTACACTGGTTTGAGAGTATATTAAGCCCTGAGTTCATAATTGGTTTATGTGGTGGTTTTTTTAAAAAAAATAATAGTAATCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAGCCCTATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGTTTTGGCAAGAGAATGGCATGAACCCGAGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGTCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAA
Task1_train_3188
A variant affecting Chromosome 2, within the gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Mitochondrial trifunctional protein deficiency 2
AGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTTGAGGCGGGTAGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAATTATAAAAACTAGCCTAGTGTGGTGGTGTGCGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCAGCCTGGTGACAGAGAGAGACTCTGTCTCAAAAATAAAGTAAATGAAATAAATCTTACGTTTAAAAGCCCTTTTTCATGGATTTTCCTCAGAGACTTTGCAGAAACCAAGGGGTCAGTTATTTATCAGTTGGAACATTTTGGACTTTATGATCACAAATGCTTTTTAATCTGTGTAACTTCATCTACAGAAAACCATGGTCCATTAAGACTAGAGCGATCCCTCTATCTCTTCATGCCAGGCTTCTACCAGGGAGATAACCTGTACACATTACTCACGAGCATAGTGCGTAATCCACATAGGGTAATGTCTGCAGATTTGAGTATGTGTTCCCTAATTCTTTATCTAGCATGTAGAGTATAAATAACACAATACTGGATGCTTTTAT
AGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAAATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTTGAGGCGGGTAGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAATTATAAAAACTAGCCTAGTGTGGTGGTGTGCGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCAGCCTGGTGACAGAGAGAGACTCTGTCTCAAAAATAAAGTAAATGAAATAAATCTTACGTTTAAAAGCCCTTTTTCATGGATTTTCCTCAGAGACTTTGCAGAAACCAAGGGGTCAGTTATTTATCAGTTGGAACATTTTGGACTTTATGATCACAAATGCTTTTTAATCTGTGTAACTTCATCTACAGAAAACCATGGTCCATTAAGACTAGAGCGATCCCTCTATCTCTTCATGCCAGGCTTCTACCAGGGAGATAACCTGTACACATTACTCACGAGCATAGTGCGTAATCCACATAGGGTAATGTCTGCAGATTTGAGTATGTGTTCCCTAATTCTTTATCTAGCATGTAGAGTATAAATAACACAATACTGGATGCTTTTAT
Task1_train_3189
Gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Mitochondrial trifunctional protein deficiency 2
TGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTTGAGGCGGGTAGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAATTATAAAAACTAGCCTAGTGTGGTGGTGTGCGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCAGCCTGGTGACAGAGAGAGACTCTGTCTCAAAAATAAAGTAAATGAAATAAATCTTACGTTTAAAAGCCCTTTTTCATGGATTTTCCTCAGAGACTTTGCAGAAACCAAGGGGTCAGTTATTTATCAGTTGGAACATTTTGGACTTTATGATCACAAATGCTTTTTAATCTGTGTAACTTCATCTACAGAAAACCATGGTCCATTAAGACTAGAGCGATCCCTCTATCTCTTCATGCCAGGCTTCTACCAGGGAGATAACCTGTACACATTACTCACGAGCATAGTGCGTAATCCACATAGGGTAATGTCTGCAGATTTGAGTATGTGTTCCCTAATTCTTTATCTAGCATGTAGAGTATAAATAACACAATACTGGATGCTTTTATGGATGAACAAGGAATAATACCTAGCACCTTTCT
TGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGGGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTTGAGGCGGGTAGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAATTATAAAAACTAGCCTAGTGTGGTGGTGTGCGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCAGCCTGGTGACAGAGAGAGACTCTGTCTCAAAAATAAAGTAAATGAAATAAATCTTACGTTTAAAAGCCCTTTTTCATGGATTTTCCTCAGAGACTTTGCAGAAACCAAGGGGTCAGTTATTTATCAGTTGGAACATTTTGGACTTTATGATCACAAATGCTTTTTAATCTGTGTAACTTCATCTACAGAAAACCATGGTCCATTAAGACTAGAGCGATCCCTCTATCTCTTCATGCCAGGCTTCTACCAGGGAGATAACCTGTACACATTACTCACGAGCATAGTGCGTAATCCACATAGGGTAATGTCTGCAGATTTGAGTATGTGTTCCCTAATTCTTTATCTAGCATGTAGAGTATAAATAACACAATACTGGATGCTTTTATGGATGAACAAGGAATAATACCTAGCACCTTTCT
Task1_train_3190
Assess the clinical impact of this variant on gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Mitochondrial trifunctional protein deficiency
TGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGTGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTTGAGGCGGGTAGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAATTATAAAAACTAGCCTAGTGTGGTGGTGTGCGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCAGCCTGGTGACAGAGAGAGACTCTGTCTCAAAAATAAAGTAAATGAAATAAATCTTACGTTTAAAAGCCCTTTTTCATGGATTTTCCTCAGAGACTTTGCAGAAACCAAGGGGTCAGTTATTTATCAGTTGGAACATTTTGGACTTTATGATCACAAATGCTTTTTAATCTGTGTAACTTCATCTACAGAAAACCATGGTCCATTAAGACTAGAGCGATCCCTCTATCTCTTCATGCCAGGCTTCTACCAGGGAGATAACCTGTACACATTACTCACGAGCATAGTGCGTAATCCACATAGGGTAATGTCTGCAGATTTGAGTATGTGTTCCCTAATTCTTTATCTAGCATGTAGAGTATAAATAACACAATACTGGATGCTTTTATGGATGAACAAGGAATAATACCTAGCACCTTTCT
TGGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAATAAAATAGTAGTAATCCTTTCCATTGGTATATCATGTTACAGTTTTGGATTATTTTCCATTTTTTTCCTATAAGTTTTACATATATATATGGACACACACAACTTATATTCTTTTTCATTAAGATAGCATATGCATTTTTTCATATGGCTACACACCCTGCTACACAATCTTCCTAATATAGCCTTTTATAAAAGCCTCCCCATGTTTAGACTCTGTTCCGTTCCCTCACAAGGCTGTAGCCTCTAGCCTCCACTGTGACGTTCACATCAGTCAAGCCCTTTCCCTTGCCTTGCTCTTTGAACTCTGTTCTTCCAGTTCTTCATGTTATTAGCTTGTCCTTATCCCTCACTGTTTATTTATTATCAATTTCTCTGACTCTGCAACATAAGAGTAGAGGGCATGTCTGTACAGTTTCACTATTTTATCTTTAACATTTCATTAATCAGTACAGAAAAATCAAAGAATGAGTGAAAAGACATTAGAGTACCTATGTAAAACTCAGTTTGGGGAATATGAAGGAGCTCTTAGTTTAAAAATTAAAGTTTTAAGATATTACTTATTTTTTCTTTGCAGACCAACATATGCTACTCCAAAAGTTCTAGAAAAGGCAGGATTGACCATGAATGATATTGATGCTTTTGAATTTCATGAAGCTTTCTCGGTAAGTAATTTGAAAGACACATATGAAGGGACTATAGTCATAAAAAATGTCATCCATATTTGTGGGAGAGAGCAAGGCATGGTTTATGATGTGAGTAGAGCAGGAGTGGACCTGCATATTTTAAGTACTGATTCACACTGCTGGGAGGGGCCCGAGGGGAGGGAAGCAAGGGCCACACATACAGTGTTGGAGAACATACCAAATTGCTTCTTTAGGAAATTGCCATTGAAAACTGATACAAAGATTTGTTCAACTTTACTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCCAGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTTTCTTGTCTCAGCCTCCCGAGTAGCTGGGACAAGCAGGCGCCTGCCACCATGCCCGACTAATTTTTTTTATATTTTTAATAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCGATTTGTTCAACTTTAAACCATACCTAAAGTTGTTAAACTTTCACAAACCATTCCTATAAGAAAGCGTAGAGGAACATGAATAACGAGGTTCTTATTCGATTATTTTCTCTTCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTACATGGGTAGAAAAACCAAGGTGAGTTTCTAATTTTAAAAAATGCGTGAATTTTCAAAGCACGTTAATAATTGGATCTTAGTTACCTGTTCTTAAGAATATGAAGGGAAAGCTTCTCTTTCTTTTGAAGAATTTTGTCTTTCATTAAAGATATTTATTTCTTAGTGTAAAAGTAGAAATTCTTGTATTTCATTAAATATATTTATTTCTTAGTTTAAAAATAGAAATTATTTAGCAAAAATAAAATTCTGTGTTTTTTGTTCCTTGCATTCTGACATTAGATGAAAAATAAATGGACTCCTGACTTTTAATATTGACCTAGACTTACTTTCTTTTGCAGTAAAATTATTTGTAATATGTCTGACGTTACGTATTTTCCTCTATCTCTCTTACTTCGTAGTACTAAGAGCCTAGCTTGATTCTGATCTTAAGTAAACTTATCTTTACATTTGTGTCTTTGGGGGAGCCAGGTTGGATTGCCTCCTTTGGAGAAGTTTAATAACTGGGGTGGATCTCTGTCCCTGGGACACCCATTTGGAGCCACTGGCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTTAGGGGCTGCGTGTGCAGCTGGAGGGCAGGTACGTTACAGTGGTGTCATAGGACCCTCCAGAGAGTCATTTTCTTGGAATGACTAGAATGTATGATTTAGTTTGAAACCTTCTTAAAGCAATATTTTTGATGACCTGGGGGTGGGGAGTGGGGAGGGATAACAGCTGTAATTCTGATAAAACTTTTTGTTTTTTGGGTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTAATATCTTAGCTCACTGCAACCTCCACTTCCCGGATTCAGGTGATTCTCGTGCCTCAGCCTCCCGAGCAGTTGAGATTACAGGTGTGCACCACCATGTCCAGTTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTAGTCTCGAATTGCCGACTTCAAGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCATGCCCTGCCATAATTCTGATAATTCTTTGGAAGGAAACAGCTATTTAAACCCAAGCTATTTTTCCCCAATATAATGTTTATTTTTTACTTATAAATATATGCTGATTATGAAAATTGTGGAATATATGAAAAGTATATAGAAAAAGTTAGAATCATCTATAATCTCCCCATCAGACATTAACATTATTAACATCTTGATATATTTTCTTCTTTAATAATTAACTTTTATTTATCTAGTCACCATAAGACTTTATAAAATCTCTCCAAGAGAGAAACTATCTTTCTAGAGAACTGAATTATACCTTAACTGGGGAGTTAATTTACTTCTGGATAACTTACTGCTGTTCAGCTGGGGAAATATATTGTTGACAGATTTTTTCCTTTCTACTTCACTTGCATTAGAGACCCAACTTCCTGACTGCTGTAGCATCTCACTCTAGGAATAAAATCCAAAAGGAAGATTGTAGTTTGTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCGCGAGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCAAGCCCGGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGCCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTGTTTTTGTTTTTTTTTTTTTTTTTTAATCCCGATGTGAACAGATTTTCTCTTCCTCTAGATTACAGAAACTTCCTGTTCCTGATCAAAATGAATAAATATTTAAAAGCATAAACTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTTGAGGCGGGTAGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAATTATAAAAACTAGCCTAGTGTGGTGGTGTGCGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCAGCCTGGTGACAGAGAGAGACTCTGTCTCAAAAATAAAGTAAATGAAATAAATCTTACGTTTAAAAGCCCTTTTTCATGGATTTTCCTCAGAGACTTTGCAGAAACCAAGGGGTCAGTTATTTATCAGTTGGAACATTTTGGACTTTATGATCACAAATGCTTTTTAATCTGTGTAACTTCATCTACAGAAAACCATGGTCCATTAAGACTAGAGCGATCCCTCTATCTCTTCATGCCAGGCTTCTACCAGGGAGATAACCTGTACACATTACTCACGAGCATAGTGCGTAATCCACATAGGGTAATGTCTGCAGATTTGAGTATGTGTTCCCTAATTCTTTATCTAGCATGTAGAGTATAAATAACACAATACTGGATGCTTTTATGGATGAACAAGGAATAATACCTAGCACCTTTCT
Task1_train_3191
This sequence change occurs on Chromosome 2, altering SELENOI (selenoprotein I). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Spastic paraplegia 81, autosomal recessive
GGCGGGGCAGAGGCGCTCCCCACATCCCAGACGATGGGCAGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCCAGATGGGGTGGCGGCCGGGCAGAGGCTGCAATCTTGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGCCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAATACGAAAACCAGTCAGGCGTGGCGGCGTGCGCCTGCAATTGCAGGCACTCCGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGATTGCAGTGAGCCGAGATGGCAGCAGTATAGTCCAGCTTCGGCTCGGCATGAGAGGGAGACCATGGGGAGAGGGAAACCATGGGGAGAGGGAGACCATGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGCGCATTCCCTCCTCTTGAAATGACATACTTCTTTATCTCTTATCAGCTGAAATCCAACTCATTCTTTATGTCCTCTACTCAGATTTCACTTGCCTGAAAAGCCATTCTAGATTATCTTAGCCTAAAGAGAACCTTTCCCTTATCTGTACTCTTTTATGGTTTGTGATATACCATACCTTTATTATCATGTTTTGTTCCTTTCTCTTTTTAATTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCATCCCCGGCTAAGTTTTTGTATTTTTAGTAGAGACAGGGTTTGGCCATGTTGGCCAGGCTGGTCTTGGACTCCTAACCTCAGGGGATCCTCCTGCCTTGGCCTCCGAAAGTGCTGGGATCATAGGCGTGAGCCACCACACCCGGCCTGTTCCTTTCTCAATTGTAAATTCTCTGAGGGCACAGTTTATTCTAAGATTCTTCCAATCCTTATAGCACCAAGAATAGTGCATTAGTTTCAGTAAATTCAATTCTTATATTTGCTGAATATCCACTGTGTGCATTTTCTGAAAGCATTTAAAATTATGGAGGCAGTAGGTCTATAAAGAAGTGATTATGATTTCAAACAGGATAGAATAGATGTTGTGACTGAAGTACTTTTGGATCCTAGAGCAAGGAGGGGTGAGATAAGTTGTGATGAATTACTATGGCATGTTCGCTGGAAGCTTGAGAATTTGTAGCTAGTGAAACAACCCAATTGTTCCATAGATTTGGAGGTATTCAGACTCCAACTAAAATGCTACTTTCTCAGATCTAAAATTGACACCATTCAGTGTAATATGACATTTTGATTTTTAGATTAAACTTTGAAGAATTATATATTTTATTTCTGAAATCTTTGTTTTTTGTTTAAAATTTTTTTTAGAGGCAGGATCTCGCTCTGTTGCCCAGACTGGAATGCAGTGGCATGATCATAGCTCACTGCAGGTTCAAACTCCTGGGCTCAAACAATCTTCCCACCTCAGCCTCCTGAGTAGCAGGAACTACAGGTGCGCACCACCATGCGTGGCTAATTTTTAAATTTTTTGTAAAGACAGAGTTTTGCTATGTTGCCCAGGCTGGTCTCAAACTTGTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGACACTGTGCCTGGCCCTAAACTCTTTGAAGTGTAGAATTAAATAATTAGATTTTTATAGTACCAGCTGATAGCTATACTTAACATTCCTGTGATAAGCTGATTTGTTTTGTTTTTTCCTCCAGTTTATTAAAGAAGACTTTCTCCATCCTGGTGCATACGTTGAACTTTTCCTGTGGTTTGTTTTTGTTGCAGATGGTGTGGACGGAAAGCAAGCTCGCAGAACCAATTCTAGCACTCCCTTAGGGGAGCTTTTTGATCATGGCCTGGATAGTTGGTCATGTGTTTACTTTGTTGTGACTGTTTATTCCATCTTTGGAAGAGGATCAACTGGTGTCAGTGTTTTTGTTCTTTATCTCCTGCTATGGGTAGTTTTGTTTTCTTTCATCCTGTCCCACTGGGAAAAGTATAACACAGGGATTCTTTTCCTGCCATGGGGATATGACATTAGCCAGGTGGTAAGTATGTGTTCTACCTTAAATTTTCAGTATTACCATGATACTTTTGGAAAGCTTTTGTCATTGCTTATTTATTGCTCTTAGGCTTTTTTGATTAGAATTGATATGTACTTAAAAATTTTTTATTTTTATTTATGGAAAATTTCAAAAATAGAATAGTATAGTGAATAGTAAAGTAGAGAGAATATTTAGGAAAAAGTAGAGAGAATAGACCCTAATGTACCCATTGCTGAGGCTGAGGCCTCCCGAGTAGCTGAGATTACAGGTGCCCACTATCACGCCTGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCTGGGCTGGTCTCTAACTCCTGACCTCAAGTGATCTTCCTGCCTTGGCTTCCCGAAGTGTTAGGATTACAGGCATGAGCCACCGTGCTCGACCCTTCTCAATTATTTTAAAGGAAATTTCTGATATTATATGATAAATACTTCGCTATATATCTCTAAATGATAAAAGCTTCCTTTAAAAAAACAATCACAATGCCAGTATTACACCAAAAATTTAACCATTTCTTAATGTTATTGCATGTTCATTTGAACTCTTGATTTTGGAAAGAAAGATATGCACATATAATTGAATGGTTGGCTTTTTGTGTTCATTGCCACCTTTTCAGTGTGTAGAGAGATTTCTTTTTTCTTACTTTAATGGCCTTGCTATTAACTCTCCCTGCCTTGAATCCCAGCTTTTTGTGTTGCCATTTTGCCCATTTGCACCTAAGTCTCCAGTAAAGAAATCAGAAGTTGGAGTGTTTGTTGAAGTGGTTGGGTGGGTAAATTTGGATCATCTTACAACTTAACCAATTTATGAGTTGCTGTTAAAGTGCTCCAAATGATGGCCAGTTGCTTGCATTGTCTACAAGTTAGTTATTTTATAGCATTGTTGGCTAAAAGATTGTATTTTTTTTTTTTTTTTTTTGAGACAGAATTTCGCTATTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAGGCGATTCTTCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTGGAACTCCTGACACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCCCCACGTCCAGCCAAAAGATTGTATTTTTAAAGGTAAGAAGACTTGCCACATACCAAATATAAGCATACTTCTTGCCTTTACTAAAACTGTTTGACTTGACTTAATGCTGCATAAAGCATGGTGACTCCTGATCTTTCTAGCGTTAATGCTTCTGTATGCTTTTGTCTGCATTTTCCTTCCAGACTATTTCTTTTGTCTACATAGTGACTGCAGTTGTGGGAGTTGAGGCCTGGTATGAACCTTTCCTGTTTAATTTCTTATATAGAGACCTATTCACTGCAATGATTATTGGTAAGAAGCTCCATGTTGAAGCCTGTTTTAACCATCACTTTGTTATCAAAAGAGCCGGTATTTGACTATAACAAGCAACAACACCCTTTGCCTCACAAAACCTCCAGGAAGCAGAACAACCCTACAACCTTGTAGGATTTCAGCCTAACCATTAAGAAAAATAAGGTTTCCCTGTTTTTGGGGTTTTTTTGTTCAGCATCAGCTATTTCTAATCAGAGGGAAATACCAAAATAGATCACATAAGCCTGATAAAGTGACTATTCAAATTAACCTAGGCTGTATTGGAGGGT
GGCGGGGCAGAGGCGCTCCCCACATCCCAGACGATGGGCAGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCCAGATGGGGTGGCGGCCGGGCAGAGGCTGCAATCTTGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGCCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAATACGAAAACCAGTCAGGCGTGGCGGCGTGCGCCTGCAATTGCAGGCACTCCGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGATTGCAGTGAGCCGAGATGGCAGCAGTATAGTCCAGCTTCGGCTCGGCATGAGAGGGAGACCATGGGGAGAGGGAAACCATGGGGAGAGGGAGACCATGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGCGCATTCCCTCCTCTTGAAATGACATACTTCTTTATCTCTTATCAGCTGAAATCCAACTCATTCTTTATGTCCTCTACTCAGATTTCACTTGCCTGAAAAGCCATTCTAGATTATCTTAGCCTAAAGAGAACCTTTCCCTTATCTGTACTCTTTTATGGTTTGTGATATACCATACCTTTATTATCATGTTTTGTTCCTTTCTCTTTTTAATTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCATCCCCGGCTAAGTTTTTGTATTTTTAGTAGAGACAGGGTTTGGCCATGTTGGCCAGGCTGGTCTTGGACTCCTAACCTCAGGGGATCCTCCTGCCTTGGCCTCCGAAAGTGCTGGGATCATAGGCGTGAGCCACCACACCCGGCCTGTTCCTTTCTCAATTGTAAATTCTCTGAGGGCACAGTTTATTCTAAGATTCTTCCAATCCTTATAGCACCAAGAATAGTGCATTAGTTTCAGTAAATTCAATTCTTATATTTGCTGAATATCCACTGTGTGCATTTTCTGAAAGCATTTAAAATTATGGAGGCAGTAGGTCTATAAAGAAGTGATTATGATTTCAAACAGGATAGAATAGATGTTGTGACTGAAGTACTTTTGGATCCTAGAGCAAGGAGGGGTGAGATAAGTTGTGATGAATTACTATGGCATGTTCGCTGGAAGCTTGAGAATTTGTAGCTAGTGAAACAACCCAATTGTTCCATAGATTTGGAGGTATTCAGACTCCAACTAAAATGCTACTTTCTCAGATCTAAAATTGACACCATTCAGTGTAATATGACATTTTGATTTTTAGATTAAACTTTGAAGAATTATATATTTTATTTCTGAAATCTTTGTTTTTTGTTTAAAATTTTTTTTAGAGGCAGGATCTCGCTCTGTTGCCCAGACTGGAATGCAGTGGCATGATCATAGCTCACTGCAGGTTCAAACTCCTGGGCTCAAACAATCTTCCCACCTCAGCCTCCTGAGTAGCAGGAACTACAGGTGCGCACCACCATGCGTGGCTAATTTTTAAATTTTTTGTAAAGACAGAGTTTTGCTATGTTGCCCAGGCTGGTCTCAAACTTGTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGACACTGTGCCTGGCCCTAAACTCTTTGAAGTGTAGAATTAAATAATTAGATTTTTATAGTACCAGCTGATAGCTATACTTAACATTCCTGTGATAAGCTGATTTGTTTTGTTTTTTCCTCCAGTTTATTAAAGAAGACTTTCTCCATCCTGGTGCATACGTTGAACTTTTCCTGTGGTTTGTTTTTGTTGCAGATGGTGTGGACGGAAAGCAAGCTCCCAGAACCAATTCTAGCACTCCCTTAGGGGAGCTTTTTGATCATGGCCTGGATAGTTGGTCATGTGTTTACTTTGTTGTGACTGTTTATTCCATCTTTGGAAGAGGATCAACTGGTGTCAGTGTTTTTGTTCTTTATCTCCTGCTATGGGTAGTTTTGTTTTCTTTCATCCTGTCCCACTGGGAAAAGTATAACACAGGGATTCTTTTCCTGCCATGGGGATATGACATTAGCCAGGTGGTAAGTATGTGTTCTACCTTAAATTTTCAGTATTACCATGATACTTTTGGAAAGCTTTTGTCATTGCTTATTTATTGCTCTTAGGCTTTTTTGATTAGAATTGATATGTACTTAAAAATTTTTTATTTTTATTTATGGAAAATTTCAAAAATAGAATAGTATAGTGAATAGTAAAGTAGAGAGAATATTTAGGAAAAAGTAGAGAGAATAGACCCTAATGTACCCATTGCTGAGGCTGAGGCCTCCCGAGTAGCTGAGATTACAGGTGCCCACTATCACGCCTGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCTGGGCTGGTCTCTAACTCCTGACCTCAAGTGATCTTCCTGCCTTGGCTTCCCGAAGTGTTAGGATTACAGGCATGAGCCACCGTGCTCGACCCTTCTCAATTATTTTAAAGGAAATTTCTGATATTATATGATAAATACTTCGCTATATATCTCTAAATGATAAAAGCTTCCTTTAAAAAAACAATCACAATGCCAGTATTACACCAAAAATTTAACCATTTCTTAATGTTATTGCATGTTCATTTGAACTCTTGATTTTGGAAAGAAAGATATGCACATATAATTGAATGGTTGGCTTTTTGTGTTCATTGCCACCTTTTCAGTGTGTAGAGAGATTTCTTTTTTCTTACTTTAATGGCCTTGCTATTAACTCTCCCTGCCTTGAATCCCAGCTTTTTGTGTTGCCATTTTGCCCATTTGCACCTAAGTCTCCAGTAAAGAAATCAGAAGTTGGAGTGTTTGTTGAAGTGGTTGGGTGGGTAAATTTGGATCATCTTACAACTTAACCAATTTATGAGTTGCTGTTAAAGTGCTCCAAATGATGGCCAGTTGCTTGCATTGTCTACAAGTTAGTTATTTTATAGCATTGTTGGCTAAAAGATTGTATTTTTTTTTTTTTTTTTTTGAGACAGAATTTCGCTATTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAGGCGATTCTTCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTGGAACTCCTGACACCTCAGGTGATCTGCCCGTCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCCCCACGTCCAGCCAAAAGATTGTATTTTTAAAGGTAAGAAGACTTGCCACATACCAAATATAAGCATACTTCTTGCCTTTACTAAAACTGTTTGACTTGACTTAATGCTGCATAAAGCATGGTGACTCCTGATCTTTCTAGCGTTAATGCTTCTGTATGCTTTTGTCTGCATTTTCCTTCCAGACTATTTCTTTTGTCTACATAGTGACTGCAGTTGTGGGAGTTGAGGCCTGGTATGAACCTTTCCTGTTTAATTTCTTATATAGAGACCTATTCACTGCAATGATTATTGGTAAGAAGCTCCATGTTGAAGCCTGTTTTAACCATCACTTTGTTATCAAAAGAGCCGGTATTTGACTATAACAAGCAACAACACCCTTTGCCTCACAAAACCTCCAGGAAGCAGAACAACCCTACAACCTTGTAGGATTTCAGCCTAACCATTAAGAAAAATAAGGTTTCCCTGTTTTTGGGGTTTTTTTGTTCAGCATCAGCTATTTCTAATCAGAGGGAAATACCAAAATAGATCACATAAGCCTGATAAAGTGACTATTCAAATTAACCTAGGCTGTATTGGAGGGT
Task1_train_3192
The variant affects gene OTOF (otoferlin), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Auditory neuropathy, autosomal recessive, 1
AAGTGGGATGTTGTAGTGAACCTTGGCCTCATAATGACCCTTGGCCTGTGACAGGACCCAGACATTCTGGACGGTATGGTTCCCGCTTCCACAGATGCTACTGTATACAAGAGGCTGGGGGAGGAAGAGGTGGGGCAGGCTAGATTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGGGAGAGCCAGCGTGGCTCGCAAGGGTGGCAAAGAAGGAGGGCCCTGGGAAAAATGTAACGACTTTCACCCTTTCTTTTCCAGATCAACTCTGAACTGCAAGTTCCTCCCACTCAGGTGTTGCGGGTACCCACAAAATGAGCTGGACCGCCAAAGGCTGATGTGTTAGGGCTGGCCTGATGCTGGTGTCTGTGCCGGAGCCAGCTCATATCACCCACTGGGCCGCACCTGGGCCTGCTCTCTGGATTTTCCAGGGCTGTCTTTATAGCCTGTCGAAATAAGGAGCCAGAGGAGTTACCTGTGTCCTGCATTATGATTAAAGCCTTTTAAAGTTGTGGCTGAATCTCTTTAAAGAGGTCAGGTCTAGCAAGACCAGGCCCTTGCCCCTACCTCTGTGTCATGAGGGGACTTTGCCCCAGGCTCAGATAGTGGTGTGAGTCAGAGGCCGAGGCCAGTAGCGTGGGGCTCCTTTCTTGCTTTCAGGGGAACTGGTTTCTGTGGGTGGAGGCTAGAGCTTTTGGGCCCTTGTGGGGCCTTAAGCCTTCAGACTGGCCCCAGACCTGAAGGATTCTTTCGGTGCTTTGGGGGCCCCTGGGCCCAGGCTGGTGTGCCCTTTGGGCTATGGTGTAAGACTCCTCCTGTGGGCAGCCTGGGTGGGCAGCCCTGTGCCTGAGGCCTGCCTTGAACCCTGGGCCACCAGAGGCCACTTGAAGGGGAAAGGCCATGGGAGCCCTGCTGGTACTGAATCTGCCAGCCTAGAGAACTGCTGCCTCTGCCCCGCACCTGCGGCTGCTCCTCTCAGCTTGACCAGTGCAGACCTGTCAGCTCAGTGCTTGACTTCTTTTATTTAGAGAAAAATCACCACTCAAGAAAAGAAAAACAGCCAACAGAAACCCAGACACAGGCAGGGGCAGCACTTGACGGGCCAGCTCCCAGCTGCAGCTGAAAGGGCTGGAAGGGCAAGGGGGCAGGGGTGGGAGGACAGGGTGTGCCCGGGATGGGGAGTCCCCTCTGCTGCTTCTCACAGCTCCTCAGCTGGGCCTGGAGGCGCTGGCTGGGGCAGAGGGAGCTCTGGGAAGCCATGGAAACCCACAGGCAGGACAGGCGACCCCCTGGGAAGTGAGAGGAGCCAAGTGGAGCCCAGCAGTGGCAGAAGCAGCCGCGCTGGGACTTGTGGGCAGGGTCTGGCCCCTGCTGCGGATCAAAGACCGGTGCTATCTGCAGGGGTCACGGCGGGGATACCTTTTGCTCGTTCATTCTTTTTAAAGCCCTGGGCACTGACCCATGGTCCTTGGTTAATTTCACTAAAGCTTCAATCCTGTACTTGGAAGACCTGGGGAGGGTTTCAGGAGTCTTCCTCTGGAGCCTGGGCCTGAAGAAGGGTGGCGCCTCAGCCAGGTGGGGCAAGAGAGACCCATTCCAGGTCCCCACCCCATCCAAGGCTCCCCAGCCCACAGGCAGGGGTCAGAGGGGCGGGACTGGGCAAGCCGCAGCCTGGGGCAGTGAGGACAGGCGGCCCCCGCAAGCAGGAGGCAGGCTCGGCCCAAGGCATGAAGAGTGGACGCTGGGCTCCTCAGGCTCCCCAGGGGAGATGGGAAAGAGTCCAAGCCACTGAAAGGAAATGCGGCAGGGCTGGGGAGCGGCTGGCGGGAGCTGGCGGCCTTCATGCCCCAAGGAGCTTTTTGACCATGTAGCCAGGGAGGCTGTAGAGGAAGAGCCCCAACATGAGCAGCCCCAACAGCGCCAGCACGATCTTGATGATGAGCCACTTGTACCGGGTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCCGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGG
AAGTGGGATGTTGTAGTGAACCTTGGCCTCATAATGACCCTTGGCCTGTGACAGGACCCAGACATTCTGGACGGTATGGTTCCCGCTTCCACAGATGCTACTGTATACAAGAGGCTGGGGGAGGAAGAGGTGGGGCAGGCTAGATTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGGGAGAGCCAGCGTGGCTCGCAAGGGTGGCAAAGAAGGAGGGCCCTGGGAAAAATGTAACGACTTTCACCCTTTCTTTTCCAGATCAACTCTGAACTGCAAGTTCCTCCCACTCAGGTGTTGCGGGTACCCACAAAATGAGCTGGACCGCCAAAGGCTGATGTGTTAGGGCTGGCCTGATGCTGGTGTCTGTGCCGGAGCCAGCTCATATCACCCACTGGGCCGCACCTGGGCCTGCTCTCTGGATTTTCCAGGGCTGTCTTTATAGCCTGTCGAAATAAGGAGCCAGAGGAGTTACCTGTGTCCTGCATTATGATTAAAGCCTTTTAAAGTTGTGGCTGAATCTCTTTAAAGAGGTCAGGTCTAGCAAGACCAGGCCCTTGCCCCTACCTCTGTGTCATGAGGGGACTTTGCCCCAGGCTCAGATAGTGGTGTGAGTCAGAGGCCGAGGCCAGTAGCGTGGGGCTCCTTTCTTGCTTTCAGGGGAACTGGTTTCTGTGGGTGGAGGCTAGAGCTTTTGGGCCCTTGTGGGGCCTTAAGCCTTCAGACTGGCCCCAGACCTGAAGGATTCTTTCGGTGCTTTGGGGGCCCCTGGGCCCAGGCTGGTGTGCCCTTTGGGCTATGGTGTAAGACTCCTCCTGTGGGCAGCCTGGGTGGGCAGCCCTGTGCCTGAGGCCTGCCTTGAACCCTGGGCCACCAGAGGCCACTTGAAGGGGAAAGGCCATGGGAGCCCTGCTGGTACTGAATCTGCCAGCCTAGAGAACTGCTGCCTCTGCCCCGCACCTGCGGCTGCTCCTCTCAGCTTGACCAGTGCAGACCTGTCAGCTCAGTGCTTGACTTCTTTTATTTAGAGAAAAATCACCACTCAAGAAAAGAAAAACAGCCAACAGAAACCCAGACACAGGCAGGGGCAGCACTTGACGGGCCAGCTCCCAGCTGCAGCTGAAAGGGCTGGAAGGGCAAGGGGGCAGGGGTGGGAGGACAGGGTGTGCCCGGGATGGGGAGTCCCCTCTGCTGCTTCTCACAGCTCCTCAGCTGGGCCTGGAGGCGCTGGCTGGGGCAGAGGGAGCTCTGGGAAGCCATGGAAACCCACAGGCAGGACAGGCGACCCCCTGGGAAGTGAGAGGAGCCAAGTGGAGCCCAGCAGTGGCAGAAGCAGCCGCGCTGGGACTTGTGGGCAGGGTCTGGCCCCTGCTGCGGATCAAAGACCGGTGCTATCTGCAGGGGTCACGGCGGGGATACCTTTTGCTCGTTCATTCTTTTTAAAGCCCTGGGCACTGACCCATGGTCCTTGGTTAATTTCACTAAAGCTTCAATCCTGTACTTGGAAGACCTGGGGAGGGTTTCAGGAGTCTTCCTCTGGAGCCTGGGCCTGAAGAAGGGTGGCGCCTCAGCCAGGTGGGGCAAGAGAGACCCATTCCAGGTCCCCACCCCATCCAAGGCTCCCCAGCCCACAGGCAGGGGTCAGAGGGGCGGGACTGGGCAAGCCGCAGCCTGGGGCAGTGAGGACAGGCGGCCCCCGCAAGCAGGAGGCAGGCTCGGCCCAAGGCATGAAGAGTGGACGCTGGGCTCCTCAGGCTCCCCAGGGGAGATGGGAAAGAGTCCAAGCCACTGAAAGGAAATGCGGCAGGGCTGGGGAGCGGCTGGCGGGAGCTGGCGGCCTTCATGCCCCAAGGAGCTTTTTGACCATGTAGCCACGGAGGCTGTAGAGGAAGAGCCCCAACATGAGCAGCCCCAACAGCGCCAGCACGATCTTGATGATGAGCCACTTGTACCGGGTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCCGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGG
Task1_train_3193
This genomic variant is located on Chromosome 2, within the OTOF (otoferlin) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Autosomal recessive nonsyndromic hearing loss 9
TTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGGGAGAGCCAGCGTGGCTCGCAAGGGTGGCAAAGAAGGAGGGCCCTGGGAAAAATGTAACGACTTTCACCCTTTCTTTTCCAGATCAACTCTGAACTGCAAGTTCCTCCCACTCAGGTGTTGCGGGTACCCACAAAATGAGCTGGACCGCCAAAGGCTGATGTGTTAGGGCTGGCCTGATGCTGGTGTCTGTGCCGGAGCCAGCTCATATCACCCACTGGGCCGCACCTGGGCCTGCTCTCTGGATTTTCCAGGGCTGTCTTTATAGCCTGTCGAAATAAGGAGCCAGAGGAGTTACCTGTGTCCTGCATTATGATTAAAGCCTTTTAAAGTTGTGGCTGAATCTCTTTAAAGAGGTCAGGTCTAGCAAGACCAGGCCCTTGCCCCTACCTCTGTGTCATGAGGGGACTTTGCCCCAGGCTCAGATAGTGGTGTGAGTCAGAGGCCGAGGCCAGTAGCGTGGGGCTCCTTTCTTGCTTTCAGGGGAACTGGTTTCTGTGGGTGGAGGCTAGAGCTTTTGGGCCCTTGTGGGGCCTTAAGCCTTCAGACTGGCCCCAGACCTGAAGGATTCTTTCGGTGCTTTGGGGGCCCCTGGGCCCAGGCTGGTGTGCCCTTTGGGCTATGGTGTAAGACTCCTCCTGTGGGCAGCCTGGGTGGGCAGCCCTGTGCCTGAGGCCTGCCTTGAACCCTGGGCCACCAGAGGCCACTTGAAGGGGAAAGGCCATGGGAGCCCTGCTGGTACTGAATCTGCCAGCCTAGAGAACTGCTGCCTCTGCCCCGCACCTGCGGCTGCTCCTCTCAGCTTGACCAGTGCAGACCTGTCAGCTCAGTGCTTGACTTCTTTTATTTAGAGAAAAATCACCACTCAAGAAAAGAAAAACAGCCAACAGAAACCCAGACACAGGCAGGGGCAGCACTTGACGGGCCAGCTCCCAGCTGCAGCTGAAAGGGCTGGAAGGGCAAGGGGGCAGGGGTGGGAGGACAGGGTGTGCCCGGGATGGGGAGTCCCCTCTGCTGCTTCTCACAGCTCCTCAGCTGGGCCTGGAGGCGCTGGCTGGGGCAGAGGGAGCTCTGGGAAGCCATGGAAACCCACAGGCAGGACAGGCGACCCCCTGGGAAGTGAGAGGAGCCAAGTGGAGCCCAGCAGTGGCAGAAGCAGCCGCGCTGGGACTTGTGGGCAGGGTCTGGCCCCTGCTGCGGATCAAAGACCGGTGCTATCTGCAGGGGTCACGGCGGGGATACCTTTTGCTCGTTCATTCTTTTTAAAGCCCTGGGCACTGACCCATGGTCCTTGGTTAATTTCACTAAAGCTTCAATCCTGTACTTGGAAGACCTGGGGAGGGTTTCAGGAGTCTTCCTCTGGAGCCTGGGCCTGAAGAAGGGTGGCGCCTCAGCCAGGTGGGGCAAGAGAGACCCATTCCAGGTCCCCACCCCATCCAAGGCTCCCCAGCCCACAGGCAGGGGTCAGAGGGGCGGGACTGGGCAAGCCGCAGCCTGGGGCAGTGAGGACAGGCGGCCCCCGCAAGCAGGAGGCAGGCTCGGCCCAAGGCATGAAGAGTGGACGCTGGGCTCCTCAGGCTCCCCAGGGGAGATGGGAAAGAGTCCAAGCCACTGAAAGGAAATGCGGCAGGGCTGGGGAGCGGCTGGCGGGAGCTGGCGGCCTTCATGCCCCAAGGAGCTTTTTGACCATGTAGCCAGGGAGGCTGTAGAGGAAGAGCCCCAACATGAGCAGCCCCAACAGCGCCAGCACGATCTTGATGATGAGCCACTTGTACCGGGTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCCGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTG
TTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGGGAGAGCCAGCGTGGCTCGCAAGGGTGGCAAAGAAGGAGGGCCCTGGGAAAAATGTAACGACTTTCACCCTTTCTTTTCCAGATCAACTCTGAACTGCAAGTTCCTCCCACTCAGGTGTTGCGGGTACCCACAAAATGAGCTGGACCGCCAAAGGCTGATGTGTTAGGGCTGGCCTGATGCTGGTGTCTGTGCCGGAGCCAGCTCATATCACCCACTGGGCCGCACCTGGGCCTGCTCTCTGGATTTTCCAGGGCTGTCTTTATAGCCTGTCGAAATAAGGAGCCAGAGGAGTTACCTGTGTCCTGCATTATGATTAAAGCCTTTTAAAGTTGTGGCTGAATCTCTTTAAAGAGGTCAGGTCTAGCAAGACCAGGCCCTTGCCCCTACCTCTGTGTCATGAGGGGACTTTGCCCCAGGCTCAGATAGTGGTGTGAGTCAGAGGCCGAGGCCAGTAGCGTGGGGCTCCTTTCTTGCTTTCAGGGGAACTGGTTTCTGTGGGTGGAGGCTAGAGCTTTTGGGCCCTTGTGGGGCCTTAAGCCTTCAGACTGGCCCCAGACCTGAAGGATTCTTTCGGTGCTTTGGGGGCCCCTGGGCCCAGGCTGGTGTGCCCTTTGGGCTATGGTGTAAGACTCCTCCTGTGGGCAGCCTGGGTGGGCAGCCCTGTGCCTGAGGCCTGCCTTGAACCCTGGGCCACCAGAGGCCACTTGAAGGGGAAAGGCCATGGGAGCCCTGCTGGTACTGAATCTGCCAGCCTAGAGAACTGCTGCCTCTGCCCCGCACCTGCGGCTGCTCCTCTCAGCTTGACCAGTGCAGACCTGTCAGCTCAGTGCTTGACTTCTTTTATTTAGAGAAAAATCACCACTCAAGAAAAGAAAAACAGCCAACAGAAACCCAGACACAGGCAGGGGCAGCACTTGACGGGCCAGCTCCCAGCTGCAGCTGAAAGGGCTGGAAGGGCAAGGGGGCAGGGGTGGGAGGACAGGGTGTGCCCGGGATGGGGAGTCCCCTCTGCTGCTTCTCACAGCTCCTCAGCTGGGCCTGGAGGCGCTGGCTGGGGCAGAGGGAGCTCTGGGAAGCCATGGAAACCCACAGGCAGGACAGGCGACCCCCTGGGAAGTGAGAGGAGCCAAGTGGAGCCCAGCAGTGGCAGAAGCAGCCGCGCTGGGACTTGTGGGCAGGGTCTGGCCCCTGCTGCGGATCAAAGACCGGTGCTATCTGCAGGGGTCACGGCGGGGATACCTTTTGCTCGTTCATTCTTTTTAAAGCCCTGGGCACTGACCCATGGTCCTTGGTTAATTTCACTAAAGCTTCAATCCTGTACTTGGAAGACCTGGGGAGGGTTTCAGGAGTCTTCCTCTGGAGCCTGGGCCTGAAGAAGGGTGGCGCCTCAGCCAGGTGGGGCAAGAGAGACCCATTCCAGGTCCCCACCCCATCCAAGGCTCCCCAGCCCACAGGCAGGGGTCAGAGGGGCGGGACTGGGCAAGCCGCAGCCTGGGGCAGTGAGGACAGGCGGCCCCCGCAAGCAGGAGGCAGGCTCGGCCCAAGGCATGAAGAGTGGACGCTGGGCTCCTCAGGCTCCCCAGGGGAGATGGGAAAGAGTCCAAGCCACTGAAAGGAAATGCGGCAGGGCTGGGGAGCGGCTGGCGGGAGCTGGCGGCCTTCATGCCCCAAGGAGCTTTTTGACCATGTAGCCAGGGAGGCTGTAGAGGAAGAGCCCCAACATGAGCAGCCCCAACAGCGCCAGCACGATCTTGATGATGAGCCACTTGTACCGGGTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCTGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTG
Task1_train_3194
A genetic alteration is present in OTOF (otoferlin) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; OTOF-related disorder
TTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGGGAGAGCCAGCGTGGCTCGCAAGGGTGGCAAAGAAGGAGGGCCCTGGGAAAAATGTAACGACTTTCACCCTTTCTTTTCCAGATCAACTCTGAACTGCAAGTTCCTCCCACTCAGGTGTTGCGGGTACCCACAAAATGAGCTGGACCGCCAAAGGCTGATGTGTTAGGGCTGGCCTGATGCTGGTGTCTGTGCCGGAGCCAGCTCATATCACCCACTGGGCCGCACCTGGGCCTGCTCTCTGGATTTTCCAGGGCTGTCTTTATAGCCTGTCGAAATAAGGAGCCAGAGGAGTTACCTGTGTCCTGCATTATGATTAAAGCCTTTTAAAGTTGTGGCTGAATCTCTTTAAAGAGGTCAGGTCTAGCAAGACCAGGCCCTTGCCCCTACCTCTGTGTCATGAGGGGACTTTGCCCCAGGCTCAGATAGTGGTGTGAGTCAGAGGCCGAGGCCAGTAGCGTGGGGCTCCTTTCTTGCTTTCAGGGGAACTGGTTTCTGTGGGTGGAGGCTAGAGCTTTTGGGCCCTTGTGGGGCCTTAAGCCTTCAGACTGGCCCCAGACCTGAAGGATTCTTTCGGTGCTTTGGGGGCCCCTGGGCCCAGGCTGGTGTGCCCTTTGGGCTATGGTGTAAGACTCCTCCTGTGGGCAGCCTGGGTGGGCAGCCCTGTGCCTGAGGCCTGCCTTGAACCCTGGGCCACCAGAGGCCACTTGAAGGGGAAAGGCCATGGGAGCCCTGCTGGTACTGAATCTGCCAGCCTAGAGAACTGCTGCCTCTGCCCCGCACCTGCGGCTGCTCCTCTCAGCTTGACCAGTGCAGACCTGTCAGCTCAGTGCTTGACTTCTTTTATTTAGAGAAAAATCACCACTCAAGAAAAGAAAAACAGCCAACAGAAACCCAGACACAGGCAGGGGCAGCACTTGACGGGCCAGCTCCCAGCTGCAGCTGAAAGGGCTGGAAGGGCAAGGGGGCAGGGGTGGGAGGACAGGGTGTGCCCGGGATGGGGAGTCCCCTCTGCTGCTTCTCACAGCTCCTCAGCTGGGCCTGGAGGCGCTGGCTGGGGCAGAGGGAGCTCTGGGAAGCCATGGAAACCCACAGGCAGGACAGGCGACCCCCTGGGAAGTGAGAGGAGCCAAGTGGAGCCCAGCAGTGGCAGAAGCAGCCGCGCTGGGACTTGTGGGCAGGGTCTGGCCCCTGCTGCGGATCAAAGACCGGTGCTATCTGCAGGGGTCACGGCGGGGATACCTTTTGCTCGTTCATTCTTTTTAAAGCCCTGGGCACTGACCCATGGTCCTTGGTTAATTTCACTAAAGCTTCAATCCTGTACTTGGAAGACCTGGGGAGGGTTTCAGGAGTCTTCCTCTGGAGCCTGGGCCTGAAGAAGGGTGGCGCCTCAGCCAGGTGGGGCAAGAGAGACCCATTCCAGGTCCCCACCCCATCCAAGGCTCCCCAGCCCACAGGCAGGGGTCAGAGGGGCGGGACTGGGCAAGCCGCAGCCTGGGGCAGTGAGGACAGGCGGCCCCCGCAAGCAGGAGGCAGGCTCGGCCCAAGGCATGAAGAGTGGACGCTGGGCTCCTCAGGCTCCCCAGGGGAGATGGGAAAGAGTCCAAGCCACTGAAAGGAAATGCGGCAGGGCTGGGGAGCGGCTGGCGGGAGCTGGCGGCCTTCATGCCCCAAGGAGCTTTTTGACCATGTAGCCAGGGAGGCTGTAGAGGAAGAGCCCCAACATGAGCAGCCCCAACAGCGCCAGCACGATCTTGATGATGAGCCACTTGTACCGGGTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCCGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTG
TTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGGGAGAGCCAGCGTGGCTCGCAAGGGTGGCAAAGAAGGAGGGCCCTGGGAAAAATGTAACGACTTTCACCCTTTCTTTTCCAGATCAACTCTGAACTGCAAGTTCCTCCCACTCAGGTGTTGCGGGTACCCACAAAATGAGCTGGACCGCCAAAGGCTGATGTGTTAGGGCTGGCCTGATGCTGGTGTCTGTGCCGGAGCCAGCTCATATCACCCACTGGGCCGCACCTGGGCCTGCTCTCTGGATTTTCCAGGGCTGTCTTTATAGCCTGTCGAAATAAGGAGCCAGAGGAGTTACCTGTGTCCTGCATTATGATTAAAGCCTTTTAAAGTTGTGGCTGAATCTCTTTAAAGAGGTCAGGTCTAGCAAGACCAGGCCCTTGCCCCTACCTCTGTGTCATGAGGGGACTTTGCCCCAGGCTCAGATAGTGGTGTGAGTCAGAGGCCGAGGCCAGTAGCGTGGGGCTCCTTTCTTGCTTTCAGGGGAACTGGTTTCTGTGGGTGGAGGCTAGAGCTTTTGGGCCCTTGTGGGGCCTTAAGCCTTCAGACTGGCCCCAGACCTGAAGGATTCTTTCGGTGCTTTGGGGGCCCCTGGGCCCAGGCTGGTGTGCCCTTTGGGCTATGGTGTAAGACTCCTCCTGTGGGCAGCCTGGGTGGGCAGCCCTGTGCCTGAGGCCTGCCTTGAACCCTGGGCCACCAGAGGCCACTTGAAGGGGAAAGGCCATGGGAGCCCTGCTGGTACTGAATCTGCCAGCCTAGAGAACTGCTGCCTCTGCCCCGCACCTGCGGCTGCTCCTCTCAGCTTGACCAGTGCAGACCTGTCAGCTCAGTGCTTGACTTCTTTTATTTAGAGAAAAATCACCACTCAAGAAAAGAAAAACAGCCAACAGAAACCCAGACACAGGCAGGGGCAGCACTTGACGGGCCAGCTCCCAGCTGCAGCTGAAAGGGCTGGAAGGGCAAGGGGGCAGGGGTGGGAGGACAGGGTGTGCCCGGGATGGGGAGTCCCCTCTGCTGCTTCTCACAGCTCCTCAGCTGGGCCTGGAGGCGCTGGCTGGGGCAGAGGGAGCTCTGGGAAGCCATGGAAACCCACAGGCAGGACAGGCGACCCCCTGGGAAGTGAGAGGAGCCAAGTGGAGCCCAGCAGTGGCAGAAGCAGCCGCGCTGGGACTTGTGGGCAGGGTCTGGCCCCTGCTGCGGATCAAAGACCGGTGCTATCTGCAGGGGTCACGGCGGGGATACCTTTTGCTCGTTCATTCTTTTTAAAGCCCTGGGCACTGACCCATGGTCCTTGGTTAATTTCACTAAAGCTTCAATCCTGTACTTGGAAGACCTGGGGAGGGTTTCAGGAGTCTTCCTCTGGAGCCTGGGCCTGAAGAAGGGTGGCGCCTCAGCCAGGTGGGGCAAGAGAGACCCATTCCAGGTCCCCACCCCATCCAAGGCTCCCCAGCCCACAGGCAGGGGTCAGAGGGGCGGGACTGGGCAAGCCGCAGCCTGGGGCAGTGAGGACAGGCGGCCCCCGCAAGCAGGAGGCAGGCTCGGCCCAAGGCATGAAGAGTGGACGCTGGGCTCCTCAGGCTCCCCAGGGGAGATGGGAAAGAGTCCAAGCCACTGAAAGGAAATGCGGCAGGGCTGGGGAGCGGCTGGCGGGAGCTGGCGGCCTTCATGCCCCAAGGAGCTTTTTGACCATGTAGCCAGGGAGGCTGTAGAGGAAGAGCCCCAACATGAGCAGCCCCAACAGCGCCAGCACGATCTTGATGATGAGCCACTTGTACCGGGTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCTGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTG
Task1_train_3195
Gene OTOF (otoferlin) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Inborn genetic diseases
TTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGGGAGAGCCAGCGTGGCTCGCAAGGGTGGCAAAGAAGGAGGGCCCTGGGAAAAATGTAACGACTTTCACCCTTTCTTTTCCAGATCAACTCTGAACTGCAAGTTCCTCCCACTCAGGTGTTGCGGGTACCCACAAAATGAGCTGGACCGCCAAAGGCTGATGTGTTAGGGCTGGCCTGATGCTGGTGTCTGTGCCGGAGCCAGCTCATATCACCCACTGGGCCGCACCTGGGCCTGCTCTCTGGATTTTCCAGGGCTGTCTTTATAGCCTGTCGAAATAAGGAGCCAGAGGAGTTACCTGTGTCCTGCATTATGATTAAAGCCTTTTAAAGTTGTGGCTGAATCTCTTTAAAGAGGTCAGGTCTAGCAAGACCAGGCCCTTGCCCCTACCTCTGTGTCATGAGGGGACTTTGCCCCAGGCTCAGATAGTGGTGTGAGTCAGAGGCCGAGGCCAGTAGCGTGGGGCTCCTTTCTTGCTTTCAGGGGAACTGGTTTCTGTGGGTGGAGGCTAGAGCTTTTGGGCCCTTGTGGGGCCTTAAGCCTTCAGACTGGCCCCAGACCTGAAGGATTCTTTCGGTGCTTTGGGGGCCCCTGGGCCCAGGCTGGTGTGCCCTTTGGGCTATGGTGTAAGACTCCTCCTGTGGGCAGCCTGGGTGGGCAGCCCTGTGCCTGAGGCCTGCCTTGAACCCTGGGCCACCAGAGGCCACTTGAAGGGGAAAGGCCATGGGAGCCCTGCTGGTACTGAATCTGCCAGCCTAGAGAACTGCTGCCTCTGCCCCGCACCTGCGGCTGCTCCTCTCAGCTTGACCAGTGCAGACCTGTCAGCTCAGTGCTTGACTTCTTTTATTTAGAGAAAAATCACCACTCAAGAAAAGAAAAACAGCCAACAGAAACCCAGACACAGGCAGGGGCAGCACTTGACGGGCCAGCTCCCAGCTGCAGCTGAAAGGGCTGGAAGGGCAAGGGGGCAGGGGTGGGAGGACAGGGTGTGCCCGGGATGGGGAGTCCCCTCTGCTGCTTCTCACAGCTCCTCAGCTGGGCCTGGAGGCGCTGGCTGGGGCAGAGGGAGCTCTGGGAAGCCATGGAAACCCACAGGCAGGACAGGCGACCCCCTGGGAAGTGAGAGGAGCCAAGTGGAGCCCAGCAGTGGCAGAAGCAGCCGCGCTGGGACTTGTGGGCAGGGTCTGGCCCCTGCTGCGGATCAAAGACCGGTGCTATCTGCAGGGGTCACGGCGGGGATACCTTTTGCTCGTTCATTCTTTTTAAAGCCCTGGGCACTGACCCATGGTCCTTGGTTAATTTCACTAAAGCTTCAATCCTGTACTTGGAAGACCTGGGGAGGGTTTCAGGAGTCTTCCTCTGGAGCCTGGGCCTGAAGAAGGGTGGCGCCTCAGCCAGGTGGGGCAAGAGAGACCCATTCCAGGTCCCCACCCCATCCAAGGCTCCCCAGCCCACAGGCAGGGGTCAGAGGGGCGGGACTGGGCAAGCCGCAGCCTGGGGCAGTGAGGACAGGCGGCCCCCGCAAGCAGGAGGCAGGCTCGGCCCAAGGCATGAAGAGTGGACGCTGGGCTCCTCAGGCTCCCCAGGGGAGATGGGAAAGAGTCCAAGCCACTGAAAGGAAATGCGGCAGGGCTGGGGAGCGGCTGGCGGGAGCTGGCGGCCTTCATGCCCCAAGGAGCTTTTTGACCATGTAGCCAGGGAGGCTGTAGAGGAAGAGCCCCAACATGAGCAGCCCCAACAGCGCCAGCACGATCTTGATGATGAGCCACTTGTACCGGGTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCCGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTG
TTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGGGAGAGCCAGCGTGGCTCGCAAGGGTGGCAAAGAAGGAGGGCCCTGGGAAAAATGTAACGACTTTCACCCTTTCTTTTCCAGATCAACTCTGAACTGCAAGTTCCTCCCACTCAGGTGTTGCGGGTACCCACAAAATGAGCTGGACCGCCAAAGGCTGATGTGTTAGGGCTGGCCTGATGCTGGTGTCTGTGCCGGAGCCAGCTCATATCACCCACTGGGCCGCACCTGGGCCTGCTCTCTGGATTTTCCAGGGCTGTCTTTATAGCCTGTCGAAATAAGGAGCCAGAGGAGTTACCTGTGTCCTGCATTATGATTAAAGCCTTTTAAAGTTGTGGCTGAATCTCTTTAAAGAGGTCAGGTCTAGCAAGACCAGGCCCTTGCCCCTACCTCTGTGTCATGAGGGGACTTTGCCCCAGGCTCAGATAGTGGTGTGAGTCAGAGGCCGAGGCCAGTAGCGTGGGGCTCCTTTCTTGCTTTCAGGGGAACTGGTTTCTGTGGGTGGAGGCTAGAGCTTTTGGGCCCTTGTGGGGCCTTAAGCCTTCAGACTGGCCCCAGACCTGAAGGATTCTTTCGGTGCTTTGGGGGCCCCTGGGCCCAGGCTGGTGTGCCCTTTGGGCTATGGTGTAAGACTCCTCCTGTGGGCAGCCTGGGTGGGCAGCCCTGTGCCTGAGGCCTGCCTTGAACCCTGGGCCACCAGAGGCCACTTGAAGGGGAAAGGCCATGGGAGCCCTGCTGGTACTGAATCTGCCAGCCTAGAGAACTGCTGCCTCTGCCCCGCACCTGCGGCTGCTCCTCTCAGCTTGACCAGTGCAGACCTGTCAGCTCAGTGCTTGACTTCTTTTATTTAGAGAAAAATCACCACTCAAGAAAAGAAAAACAGCCAACAGAAACCCAGACACAGGCAGGGGCAGCACTTGACGGGCCAGCTCCCAGCTGCAGCTGAAAGGGCTGGAAGGGCAAGGGGGCAGGGGTGGGAGGACAGGGTGTGCCCGGGATGGGGAGTCCCCTCTGCTGCTTCTCACAGCTCCTCAGCTGGGCCTGGAGGCGCTGGCTGGGGCAGAGGGAGCTCTGGGAAGCCATGGAAACCCACAGGCAGGACAGGCGACCCCCTGGGAAGTGAGAGGAGCCAAGTGGAGCCCAGCAGTGGCAGAAGCAGCCGCGCTGGGACTTGTGGGCAGGGTCTGGCCCCTGCTGCGGATCAAAGACCGGTGCTATCTGCAGGGGTCACGGCGGGGATACCTTTTGCTCGTTCATTCTTTTTAAAGCCCTGGGCACTGACCCATGGTCCTTGGTTAATTTCACTAAAGCTTCAATCCTGTACTTGGAAGACCTGGGGAGGGTTTCAGGAGTCTTCCTCTGGAGCCTGGGCCTGAAGAAGGGTGGCGCCTCAGCCAGGTGGGGCAAGAGAGACCCATTCCAGGTCCCCACCCCATCCAAGGCTCCCCAGCCCACAGGCAGGGGTCAGAGGGGCGGGACTGGGCAAGCCGCAGCCTGGGGCAGTGAGGACAGGCGGCCCCCGCAAGCAGGAGGCAGGCTCGGCCCAAGGCATGAAGAGTGGACGCTGGGCTCCTCAGGCTCCCCAGGGGAGATGGGAAAGAGTCCAAGCCACTGAAAGGAAATGCGGCAGGGCTGGGGAGCGGCTGGCGGGAGCTGGCGGCCTTCATGCCCCAAGGAGCTTTTTGACCATGTAGCCAGGGAGGCTGTAGAGGAAGAGCCCCAACATGAGCAGCCCCAACAGCGCCAGCACGATCTTGATGATGAGCCACTTGTACCGGGTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCTGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTG
Task1_train_3196
This gene mutation involves OTOF (otoferlin) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
Pathogenic; Autosomal recessive nonsyndromic hearing loss 9
GTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCCGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTGGCGAGGGGCCAAGACCAAGAGGGAAGCTGTCCTGGGCTGTGTGTGCAGTTCTAGGCACCCCTCTGGCCATCAAGGCTGGCCATGGCCCCAGAGGCCACCACTGGAGCTGGCTCTTCTGCAAAAGCTAGGAAGGGAAGAGCATAGTTTCTCTCCGCTAGATGGGGCCTTTCCCAGGGAAGGTCCTGCTCTCCAGTATTCCTAGCCCATCCTCTGGTTCAAAGGGACGTTGTGGGATTCAGGGTTGGCAGAGGGCAGGGAGGAGGCTCCCCTGTAATGAGGCTGTGGCCCAGGAAGAGATGGGGTGTCTGGGGATCGTCTCCTTCCTGTTCCAGCGCCTCCAAGAGCCAGAGTGGGGAGGGGCTGGGCCGGCAGGGCACTCACTTGGGTTTCTCTAGGGGGTCAGGTTCATTGCGGGCCAGGCCCACTGGGTTCTTCTCTGCCTCCTCTGCTGTCAGTAAATGCAGCTCAGCCTCCACCTTGCCCTGCAGAGGACAGACAGGTCCCAGCGTCCAGGCTGCGTGCTGGGCCCTTGGCACCCCAGCCAGTCCCAGCCCTGCCTACTGCCCGAGCAGGAAGGGGTGCGCACCGTGAGCTCAAACTCATCGTTCTCATTGCGGGCCAGGAGGGGCCACCAGCCTTTGACGCGCTTTTGCTTGAAGATGGACACGAGGGGCACGTCCACCTCCCCGGTGGCCATCTCCATGGTGCACTGCTTGGCTGTCTTTGCGCCCCGCGGGAACCGGTTCAGGTCCAGCTCGATGGCCCCTGTGGCAACCTCAGTGTCAGCTCAGAGTGAACAGGGCTGGGGTGGGGCGGGGTGGGGGTGGGGGTCTGGGCTCCTCGGCCCCTTGTTTGCTGAGTGCAGACCTCCCTGAGCCCACATCTCATCCTCCTGCCTCACTCCCAGCAACTGGCCTCAATGCAGGCATCCTCGTGGGCTTGCTAGGCAGCCCCAGCCCCCATGCTTTACTCAGGTCCTTCTTTCACCCCAGAGGGTCTCTCCTGGGGTCTCCCCTGCCACTCCCTGCCATGCATCCATTCTGTCAAAGTCCTGCTAATCCCACAAGCTTTTGCAGATGCAGATTAGAGTTTTAGGGAGAATCCCTGCTTTACAGAGAAGCAACCTGAGGCCCAGGGAGGTTTCCCGACTCCCTTAGGGAGCCTCTCCCCTCCCCCATCATCACTGACTGCCCCCTCCTTGGTGTGTCCAAAGCTTGTTGTCAGCCTGGTTATGACACTGAGAACATCTGCCTAGGGACGGTTAGGTGGGTCCTTGGGGGCGGAACCCCGTCGGACACCCCTGGCTCTGATGGACTGGAAGCAATGACCCCTTGTCCCCCCAAGGCAGGGCTCTCCCTGTCCCCGCCAACCCGGCCCCTGCCTCTTCTCAGTTCTGGATCCTGAACCCCCATCCCTGCCCTGCTCTGCACCCAGGAAGTCGTCAGCGGAGAAGTGGTCCGCATCCCAGATCTGCAGGGTGAGCCGCGCGGGGATCTTGTACTCGGTCTCGTCCCAGGAGAACATGGACTCCTTCTTGGAGATGACGATCTTCTCCTCCGCCGCCAGGTAGTCGAAGGGGAACAGGTAGCGCCAGTTGAAGTTGCCCTCGCCAGTGAGGGAGTGGTAGTGGACGTCTGTGTCCTGCTTGTCCTCCTGCTGGCCCTTCAGCCACCTGTGGGCGCCACATCTCCAGACCCGCAGCCAGGCTGGTGGGGCCTCTCCCACCCACAGCCACCTTCCCTCTGCCTCCTCTCCTGCCCCCCGGGAAGCAAGCCCCACCCAGCTCAGTCCCTCCCATGCAGGGACTGCTCACCCACCCCCTCACGAAGATGTCACTGGACTTCTCCCCTGTGAAGAAGTCGTCGTCCTCCAAGACCACCTCATCTGTGTTCCAGATGATGACCCGCAGCTCGTACCTGGGCCCAGGGAGAGAAGGCTGGTTAGCAGCCCCAGGTGGGGGTTATGCCAGGGTGCCAGGGCTGGGA
GTGCAGATGAGGTACTTGATGGACTTGAGAGGGTTGAGGAACCAGACGAAGGCCGTGTCGGGCCGGCTGGGAAGTGGAAGAGAGGAGCCGGTCAGCCAGTGGGCAGGAGCTGCCTCCCAGTGCACCCCATCCTCTGTCCTTCTGGACCCCCAAAAGCCCTGCCATGGCCCCAGCCCCAAAAGCAGTGAATGCTGGAGCCAGGGTTTAAACCCATTTCTAAGTACCCGACTTGCTGCTTACAAAACTCTATCCTCCCTGCAGCACCTTTGGGGCCCGAATCTCCTCCTAAGGCCTAGATGGGAGCTACTTGCAGCATGGGGCAGCCTTGGCCCTGCAGGCAGTTCTCATCGTTAGGAAGCTCCTGCGGTTAGCTCGTTCTATGTGCTGCCCCACGTCCTTGGTAAGACTGGTGCTTCACAACCTCTTCCTTTCTGATGGACATAAATGGCTGTTCCCACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGTTTTCACAGGCAAGTGAGGCACCTCTATCAACCTCGGTTTCTTCATGTATAAAATGGGGTTACAAGCAGTACCTACCTCCTGGGTTTGGCGCAATGGCACAGTGAGCCAGTGCCTGGGGAGCTCTGAGCACCTGCAGTTGGGTGTTCAGGCCATGGTGGCTATGAAATGTTTGAGTTGAATGGAATTATTATCCTGAAGGGCAGAAAACAACAGCCCTGGACTGGGAGGTCACACACGGGTGAGAGCCATTTCCAGACCTGTTGGCTAACCCTGGCCACACCCTTCCCTTTTCCCTGTCCATAGCTCAGCTTCTTTCTGCCAATGAAATTGGGTTAGAGTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAATTGGGTTACAGTCTGGGAGAAACATGGCTGGGAGCAGAGGTGGTGTGCAAAGAACACAGGATTGGAAATTTGGAAACCTTGGCTTGAGTCCCGGCTCTACCCTAATTTGCTGGGTAACCTTGAGCAAGCTACTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCTGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTGGCGAGGGGCCAAGACCAAGAGGGAAGCTGTCCTGGGCTGTGTGTGCAGTTCTAGGCACCCCTCTGGCCATCAAGGCTGGCCATGGCCCCAGAGGCCACCACTGGAGCTGGCTCTTCTGCAAAAGCTAGGAAGGGAAGAGCATAGTTTCTCTCCGCTAGATGGGGCCTTTCCCAGGGAAGGTCCTGCTCTCCAGTATTCCTAGCCCATCCTCTGGTTCAAAGGGACGTTGTGGGATTCAGGGTTGGCAGAGGGCAGGGAGGAGGCTCCCCTGTAATGAGGCTGTGGCCCAGGAAGAGATGGGGTGTCTGGGGATCGTCTCCTTCCTGTTCCAGCGCCTCCAAGAGCCAGAGTGGGGAGGGGCTGGGCCGGCAGGGCACTCACTTGGGTTTCTCTAGGGGGTCAGGTTCATTGCGGGCCAGGCCCACTGGGTTCTTCTCTGCCTCCTCTGCTGTCAGTAAATGCAGCTCAGCCTCCACCTTGCCCTGCAGAGGACAGACAGGTCCCAGCGTCCAGGCTGCGTGCTGGGCCCTTGGCACCCCAGCCAGTCCCAGCCCTGCCTACTGCCCGAGCAGGAAGGGGTGCGCACCGTGAGCTCAAACTCATCGTTCTCATTGCGGGCCAGGAGGGGCCACCAGCCTTTGACGCGCTTTTGCTTGAAGATGGACACGAGGGGCACGTCCACCTCCCCGGTGGCCATCTCCATGGTGCACTGCTTGGCTGTCTTTGCGCCCCGCGGGAACCGGTTCAGGTCCAGCTCGATGGCCCCTGTGGCAACCTCAGTGTCAGCTCAGAGTGAACAGGGCTGGGGTGGGGCGGGGTGGGGGTGGGGGTCTGGGCTCCTCGGCCCCTTGTTTGCTGAGTGCAGACCTCCCTGAGCCCACATCTCATCCTCCTGCCTCACTCCCAGCAACTGGCCTCAATGCAGGCATCCTCGTGGGCTTGCTAGGCAGCCCCAGCCCCCATGCTTTACTCAGGTCCTTCTTTCACCCCAGAGGGTCTCTCCTGGGGTCTCCCCTGCCACTCCCTGCCATGCATCCATTCTGTCAAAGTCCTGCTAATCCCACAAGCTTTTGCAGATGCAGATTAGAGTTTTAGGGAGAATCCCTGCTTTACAGAGAAGCAACCTGAGGCCCAGGGAGGTTTCCCGACTCCCTTAGGGAGCCTCTCCCCTCCCCCATCATCACTGACTGCCCCCTCCTTGGTGTGTCCAAAGCTTGTTGTCAGCCTGGTTATGACACTGAGAACATCTGCCTAGGGACGGTTAGGTGGGTCCTTGGGGGCGGAACCCCGTCGGACACCCCTGGCTCTGATGGACTGGAAGCAATGACCCCTTGTCCCCCCAAGGCAGGGCTCTCCCTGTCCCCGCCAACCCGGCCCCTGCCTCTTCTCAGTTCTGGATCCTGAACCCCCATCCCTGCCCTGCTCTGCACCCAGGAAGTCGTCAGCGGAGAAGTGGTCCGCATCCCAGATCTGCAGGGTGAGCCGCGCGGGGATCTTGTACTCGGTCTCGTCCCAGGAGAACATGGACTCCTTCTTGGAGATGACGATCTTCTCCTCCGCCGCCAGGTAGTCGAAGGGGAACAGGTAGCGCCAGTTGAAGTTGCCCTCGCCAGTGAGGGAGTGGTAGTGGACGTCTGTGTCCTGCTTGTCCTCCTGCTGGCCCTTCAGCCACCTGTGGGCGCCACATCTCCAGACCCGCAGCCAGGCTGGTGGGGCCTCTCCCACCCACAGCCACCTTCCCTCTGCCTCCTCTCCTGCCCCCCGGGAAGCAAGCCCCACCCAGCTCAGTCCCTCCCATGCAGGGACTGCTCACCCACCCCCTCACGAAGATGTCACTGGACTTCTCCCCTGTGAAGAAGTCGTCGTCCTCCAAGACCACCTCATCTGTGTTCCAGATGATGACCCGCAGCTCGTACCTGGGCCCAGGGAGAGAAGGCTGGTTAGCAGCCCCAGGTGGGGGTTATGCCAGGGTGCCAGGGCTGGGA
Task1_train_3197
This mutation is located in gene OTOF (otoferlin) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Autosomal recessive nonsyndromic hearing loss 9
CTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTGGCGAGGGGCCAAGACCAAGAGGGAAGCTGTCCTGGGCTGTGTGTGCAGTTCTAGGCACCCCTCTGGCCATCAAGGCTGGCCATGGCCCCAGAGGCCACCACTGGAGCTGGCTCTTCTGCAAAAGCTAGGAAGGGAAGAGCATAGTTTCTCTCCGCTAGATGGGGCCTTTCCCAGGGAAGGTCCTGCTCTCCAGTATTCCTAGCCCATCCTCTGGTTCAAAGGGACGTTGTGGGATTCAGGGTTGGCAGAGGGCAGGGAGGAGGCTCCCCTGTAATGAGGCTGTGGCCCAGGAAGAGATGGGGTGTCTGGGGATCGTCTCCTTCCTGTTCCAGCGCCTCCAAGAGCCAGAGTGGGGAGGGGCTGGGCCGGCAGGGCACTCACTTGGGTTTCTCTAGGGGGTCAGGTTCATTGCGGGCCAGGCCCACTGGGTTCTTCTCTGCCTCCTCTGCTGTCAGTAAATGCAGCTCAGCCTCCACCTTGCCCTGCAGAGGACAGACAGGTCCCAGCGTCCAGGCTGCGTGCTGGGCCCTTGGCACCCCAGCCAGTCCCAGCCCTGCCTACTGCCCGAGCAGGAAGGGGTGCGCACCGTGAGCTCAAACTCATCGTTCTCATTGCGGGCCAGGAGGGGCCACCAGCCTTTGACGCGCTTTTGCTTGAAGATGGACACGAGGGGCACGTCCACCTCCCCGGTGGCCATCTCCATGGTGCACTGCTTGGCTGTCTTTGCGCCCCGCGGGAACCGGTTCAGGTCCAGCTCGATGGCCCCTGTGGCAACCTCAGTGTCAGCTCAGAGTGAACAGGGCTGGGGTGGGGCGGGGTGGGGGTGGGGGTCTGGGCTCCTCGGCCCCTTGTTTGCTGAGTGCAGACCTCCCTGAGCCCACATCTCATCCTCCTGCCTCACTCCCAGCAACTGGCCTCAATGCAGGCATCCTCGTGGGCTTGCTAGGCAGCCCCAGCCCCCATGCTTTACTCAGGTCCTTCTTTCACCCCAGAGGGTCTCTCCTGGGGTCTCCCCTGCCACTCCCTGCCATGCATCCATTCTGTCAAAGTCCTGCTAATCCCACAAGCTTTTGCAGATGCAGATTAGAGTTTTAGGGAGAATCCCTGCTTTACAGAGAAGCAACCTGAGGCCCAGGGAGGTTTCCCGACTCCCTTAGGGAGCCTCTCCCCTCCCCCATCATCACTGACTGCCCCCTCCTTGGTGTGTCCAAAGCTTGTTGTCAGCCTGGTTATGACACTGAGAACATCTGCCTAGGGACGGTTAGGTGGGTCCTTGGGGGCGGAACCCCGTCGGACACCCCTGGCTCTGATGGACTGGAAGCAATGACCCCTTGTCCCCCCAAGGCAGGGCTCTCCCTGTCCCCGCCAACCCGGCCCCTGCCTCTTCTCAGTTCTGGATCCTGAACCCCCATCCCTGCCCTGCTCTGCACCCAGGAAGTCGTCAGCGGAGAAGTGGTCCGCATCCCAGATCTGCAGGGTGAGCCGCGCGGGGATCTTGTACTCGGTCTCGTCCCAGGAGAACATGGACTCCTTCTTGGAGATGACGATCTTCTCCTCCGCCGCCAGGTAGTCGAAGGGGAACAGGTAGCGCCAGTTGAAGTTGCCCTCGCCAGTGAGGGAGTGGTAGTGGACGTCTGTGTCCTGCTTGTCCTCCTGCTGGCCCTTCAGCCACCTGTGGGCGCCACATCTCCAGACCCGCAGCCAGGCTGGTGGGGCCTCTCCCACCCACAGCCACCTTCCCTCTGCCTCCTCTCCTGCCCCCCGGGAAGCAAGCCCCACCCAGCTCAGTCCCTCCCATGCAGGGACTGCTCACCCACCCCCTCACGAAGATGTCACTGGACTTCTCCCCTGTGAAGAAGTCGTCGTCCTCCAAGACCACCTCATCTGTGTTCCAGATGATGACCCGCAGCTCGTACCTGGGCCCAGGGAGAGAAGGCTGGTTAGCAGCCCCAGGTGGGGGTTATGCCAGGGTGCCAGGGCTGGGATGGGGCAGGCGGAGAGAAGCCCTGGGGTCTTGGGGTCAGCACAGGGCCTGGGCCAGGCTGGGGCTGGAGGAGTGGTTTGGGGTTGGGGGAGCAGAGGCATGAGTGAGAAGGCCCACCAGGCACATGGCTGTGGGCGGTGGGGGTGGGGTGAGGGGAGGAAGCCACCCTCTGTCTCAGATGCTAGTTCCAAGAGAAGTCTGCATTTAAGCCCAGTAGCCAGCAATGGAAGCCCATGGAAGCTGTATGTCCCTGTCCCCAAAGAGGATTTTCCCCTCAAGGTTTAATTGTAATTATGAATGATGTAGTTCATTTCAATCATTAAGAGTGAGGCTGAGTCATTCACTAAAAATTGATCTGAGCATGGCTCTCCTGGGATTGCAGACAGGGCTGCGAGCCCAGAGTGGCCCAGTGAGTTGGGTGCCCCCTAATGACAGGCCCTGGAACAGCTGACTCATGGCCTCAGGTTTCCAGGACATTCCTGGCAGAATTTGCTGCATGATTTGCTGGGGCCAGCGCCAAATGGAAATGCAGGGTCACTTGTCATAAAGAATTTCAAGATGGCAACATAGGAGCATGGAAACAAGAGTGGGACCCTGTGTGGCTTCCTCCATCCCTGAAGCTGGCCCTGAATCCAGTCACTGTCTGACAGCTGGACTTGAACCTGCCGCTTTATGGATGGGAAACCCGGGTTCTTTTCACTCTACCACCTCCTGCCTCTTCCAGGCACTCACTCCTGGATTCATCACTGGCAGGCACTCCAAAGAAAACTTGGCGGAACATCACACTAGCCTGGATGTGAGGATGACGCAGGGCCGGCTCCCAGGGGTTCTGTGTGTTGTGAAGGAGTGCGTCAGTGTGGGCATGTGTGTGGGTGTCCGTGGGAGTGCTATGCTGTGTGTGTGTGTGTGCATGAGATGCATGTGTATGGGCGCGTAGACCGTGTAGATACAATGCACCGGAGTGTGCTGTGTGGGGCTTGTCTCGCTCACTGATGCAGGGTGGAAGGCGTTGTCCTGCCTTAGCACGTGGGGACTCTCCAGGGCAGGCCCTAAACTCTATCGATTGGTTGGTCAGTTTCTCCCCTATAAGGCCCAGTGGCCACACCCAGGCCCCAGGGATGCCAACTGGCCAAGGCCATCTGGACCTGAGCCCCCCGCAGGAAGGGTTGGGCCGTGGTGGGAAGTGGGTGGGGTGGGCCGGAAGGGAGTAGCGCTGGGCCCCAGGCCGCTCACTTCTTGGGCTTCCGAGGTGAGATGTCCAGAGGCGTCCCAGGGGCTGGCATGTCCATGGGGAACATGTCCACCCACAGCTCCAGGCGGCCCTGAGGAAGAGGGTTGTGGCAGATCTCCCAGGGCCTTCTCCCTCTGCCCAGGAAGATCAGCTCTCCTCTCCCTCCTAACCTTTGTTCTGTCAAGGACCCAGTTCATCAGTTTCCATCTTTGGATGCCAGGAATTCCTATGATGTCACCAATAGCCAATCACAGCTTCTGAGGGAGACAACCCAGGTCTCTGCCTGAGCTGATGTAATTCTCACTCAAAGCAAAGACCCTTGC
CTTCACCTCTTTGGCTTAATGTGGAAAAGTGTAAAATAGTCATTTCTAGTTCTGAGAGTCTATTCTGTCATGAAAGCTTGAAAGTTGCTGTGCATGTTTGTGTGGGCTTAAGTGTGTGCCTGTGTGTGCTTGAGTGCATGTGTATGCACTTGTGCGTGGCACATGTGTGCATACATGCTTGTGTGTGTTTGTGTGCACATGTATGCATATTTGTGTTTGTGGATGTGTGCGTGTATATGTGTGTGTGTGCACGCGCCTGCCTAGCCCTTGGTCCAGAGGAAGAAGTAAGAAATATCAGACCCAGGAGGCCACTGGGCTCAGGCCCCGAGGATTTTCTTGACCAGGTAGCCAGGCACAGAGTAGAGGAACAGGGCGAGGAGGAGGAGCAGCAGCAGGAGCAGCAACAGTTTGAGGAGCAGCCAGCGATACGTGTGCCACAAGAAGTAGCGAGCCGACTTGAGAGGGTTCAGGAACCAGATGAAGCTCGTGTCGGGCCGGCTGGAGTATGAAGGGTAGAGAGCGCAGAGGAGGGACAGGGAGGAGAAGGGATTGGGTGTGGCGAGGGGCCAAGACCAAGAGGGAAGCTGTCCTGGGCTGTGTGTGCAGTTCTAGGCACCCCTCTGGCCATCAAGGCTGGCCATGGCCCCAGAGGCCACCACTGGAGCTGGCTCTTCTGCAAAAGCTAGGAAGGGAAGAGCATAGTTTCTCTCCGCTAGATGGGGCCTTTCCCAGGGAAGGTCCTGCTCTCCAGTATTCCTAGCCCATCCTCTGGTTCAAAGGGACGTTGTGGGATTCAGGGTTGGCAGAGGGCAGGGAGGAGGCTCCCCTGTAATGAGGCTGTGGCCCAGGAAGAGATGGGGTGTCTGGGGATCGTCTCCTTCCTGTTCCAGCGCCTCCAAGAGCCAGAGTGGGGAGGGGCTGGGCCGGCAGGGCACTCACTTGGGTTTCTCTAGGGGGTCAGGTTCATTGCGGGCCAGGCCCACTGGGTTCTTCTCTGCCTCCTCTGCTGTCAGTAAATGCAGCTCAGCCTCCACCTTGCCCTGCAGAGGACAGACAGGTCCCAGCGTCCAGGCTGCGTGCTGGGCCCTTGGCACCCCAGCCAGTCCCAGCCCTGCCTACTGCCCGAGCAGGAAGGGGTGCGCACCGTGAGCTCAAACTCATCGTTCTCATTGCGGGCCAGGAGGGGCCACCAGCCTTTGACGCGCTTTTGCTTGAAGATGGACACGAGGGGCACGTCCACCTCCCCGGTGGCCATCTCCATGGTGCACTGCTTGGCTGTCTTTGCGCCCCGCGGGAACCGGTTCAGGTCCAGCTCGATGGCCCCTGTGGCAACCTCAGTGTCAGCTCAGAGTGAACAGGGCTGGGGTGGGGCGGGGTGGGGGTGGGGGTCTGGGCTCCTCGGCCCCTTGTTTGCTGAGTGCAGACCTCCCTGAGCCCACATCTCATCCTCCTGCCTCACTCCCAGCAACTGGCCTCAATGCAGGCATCCTCGTGGGCTTGCTAGGCAGCCCCAGCCCCCATGCTTTACTCAGGTCCTTCTTTCACCCCAGAGGGTCTCTCCTGGGGTCTCCCCTGCCACTCCCTGCCATGCATCCATTCTGTCAAAGTCCTGCTAATCCCACAAGCTTTTGCAGATGCAGATTAGAGTTTTAGGGAGAATCCCTGCTTTACAGAGAAGCAACCTGAGGCCCAGGGAGGTTTCCCGACTCCCTTAGGGAGCCTCTCCCCTCCCCCATCATCACTGACTGCCCCCTCCTTGGTGTGTCCAAAGCTTGTTGTCAGCCTGGTTATGACACTGAGAACATCTGCCTAGGGACGGTTAGGTGGGTCCTTGGGGGCGGAACCCCGTCGGACACCCCTGGCTCTGATGGACTGGAAGCAATGACCCCTTGTCCCCCCAAGGCAGGGCTCTCCCTGTCCCCGCCAACCCGGCCCCTGCCTCTTCTCAGTTCTGGATCCTGAACCCCCATCCCTGCCCTGCTCTGCACCCAGGAAGTCGTCAGCGGAGAAGTGGTCCGCATCCCAGATCTGCAGGGTGAGCCGCGCGGCGATCTTGTACTCGGTCTCGTCCCAGGAGAACATGGACTCCTTCTTGGAGATGACGATCTTCTCCTCCGCCGCCAGGTAGTCGAAGGGGAACAGGTAGCGCCAGTTGAAGTTGCCCTCGCCAGTGAGGGAGTGGTAGTGGACGTCTGTGTCCTGCTTGTCCTCCTGCTGGCCCTTCAGCCACCTGTGGGCGCCACATCTCCAGACCCGCAGCCAGGCTGGTGGGGCCTCTCCCACCCACAGCCACCTTCCCTCTGCCTCCTCTCCTGCCCCCCGGGAAGCAAGCCCCACCCAGCTCAGTCCCTCCCATGCAGGGACTGCTCACCCACCCCCTCACGAAGATGTCACTGGACTTCTCCCCTGTGAAGAAGTCGTCGTCCTCCAAGACCACCTCATCTGTGTTCCAGATGATGACCCGCAGCTCGTACCTGGGCCCAGGGAGAGAAGGCTGGTTAGCAGCCCCAGGTGGGGGTTATGCCAGGGTGCCAGGGCTGGGATGGGGCAGGCGGAGAGAAGCCCTGGGGTCTTGGGGTCAGCACAGGGCCTGGGCCAGGCTGGGGCTGGAGGAGTGGTTTGGGGTTGGGGGAGCAGAGGCATGAGTGAGAAGGCCCACCAGGCACATGGCTGTGGGCGGTGGGGGTGGGGTGAGGGGAGGAAGCCACCCTCTGTCTCAGATGCTAGTTCCAAGAGAAGTCTGCATTTAAGCCCAGTAGCCAGCAATGGAAGCCCATGGAAGCTGTATGTCCCTGTCCCCAAAGAGGATTTTCCCCTCAAGGTTTAATTGTAATTATGAATGATGTAGTTCATTTCAATCATTAAGAGTGAGGCTGAGTCATTCACTAAAAATTGATCTGAGCATGGCTCTCCTGGGATTGCAGACAGGGCTGCGAGCCCAGAGTGGCCCAGTGAGTTGGGTGCCCCCTAATGACAGGCCCTGGAACAGCTGACTCATGGCCTCAGGTTTCCAGGACATTCCTGGCAGAATTTGCTGCATGATTTGCTGGGGCCAGCGCCAAATGGAAATGCAGGGTCACTTGTCATAAAGAATTTCAAGATGGCAACATAGGAGCATGGAAACAAGAGTGGGACCCTGTGTGGCTTCCTCCATCCCTGAAGCTGGCCCTGAATCCAGTCACTGTCTGACAGCTGGACTTGAACCTGCCGCTTTATGGATGGGAAACCCGGGTTCTTTTCACTCTACCACCTCCTGCCTCTTCCAGGCACTCACTCCTGGATTCATCACTGGCAGGCACTCCAAAGAAAACTTGGCGGAACATCACACTAGCCTGGATGTGAGGATGACGCAGGGCCGGCTCCCAGGGGTTCTGTGTGTTGTGAAGGAGTGCGTCAGTGTGGGCATGTGTGTGGGTGTCCGTGGGAGTGCTATGCTGTGTGTGTGTGTGTGCATGAGATGCATGTGTATGGGCGCGTAGACCGTGTAGATACAATGCACCGGAGTGTGCTGTGTGGGGCTTGTCTCGCTCACTGATGCAGGGTGGAAGGCGTTGTCCTGCCTTAGCACGTGGGGACTCTCCAGGGCAGGCCCTAAACTCTATCGATTGGTTGGTCAGTTTCTCCCCTATAAGGCCCAGTGGCCACACCCAGGCCCCAGGGATGCCAACTGGCCAAGGCCATCTGGACCTGAGCCCCCCGCAGGAAGGGTTGGGCCGTGGTGGGAAGTGGGTGGGGTGGGCCGGAAGGGAGTAGCGCTGGGCCCCAGGCCGCTCACTTCTTGGGCTTCCGAGGTGAGATGTCCAGAGGCGTCCCAGGGGCTGGCATGTCCATGGGGAACATGTCCACCCACAGCTCCAGGCGGCCCTGAGGAAGAGGGTTGTGGCAGATCTCCCAGGGCCTTCTCCCTCTGCCCAGGAAGATCAGCTCTCCTCTCCCTCCTAACCTTTGTTCTGTCAAGGACCCAGTTCATCAGTTTCCATCTTTGGATGCCAGGAATTCCTATGATGTCACCAATAGCCAATCACAGCTTCTGAGGGAGACAACCCAGGTCTCTGCCTGAGCTGATGTAATTCTCACTCAAAGCAAAGACCCTTGC
Task1_train_3198
Here is a genetic alteration in OTOF (otoferlin) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Bilateral sensorineural hearing impairment
GCCCCACCCAGCTCAGTCCCTCCCATGCAGGGACTGCTCACCCACCCCCTCACGAAGATGTCACTGGACTTCTCCCCTGTGAAGAAGTCGTCGTCCTCCAAGACCACCTCATCTGTGTTCCAGATGATGACCCGCAGCTCGTACCTGGGCCCAGGGAGAGAAGGCTGGTTAGCAGCCCCAGGTGGGGGTTATGCCAGGGTGCCAGGGCTGGGATGGGGCAGGCGGAGAGAAGCCCTGGGGTCTTGGGGTCAGCACAGGGCCTGGGCCAGGCTGGGGCTGGAGGAGTGGTTTGGGGTTGGGGGAGCAGAGGCATGAGTGAGAAGGCCCACCAGGCACATGGCTGTGGGCGGTGGGGGTGGGGTGAGGGGAGGAAGCCACCCTCTGTCTCAGATGCTAGTTCCAAGAGAAGTCTGCATTTAAGCCCAGTAGCCAGCAATGGAAGCCCATGGAAGCTGTATGTCCCTGTCCCCAAAGAGGATTTTCCCCTCAAGGTTTAATTGTAATTATGAATGATGTAGTTCATTTCAATCATTAAGAGTGAGGCTGAGTCATTCACTAAAAATTGATCTGAGCATGGCTCTCCTGGGATTGCAGACAGGGCTGCGAGCCCAGAGTGGCCCAGTGAGTTGGGTGCCCCCTAATGACAGGCCCTGGAACAGCTGACTCATGGCCTCAGGTTTCCAGGACATTCCTGGCAGAATTTGCTGCATGATTTGCTGGGGCCAGCGCCAAATGGAAATGCAGGGTCACTTGTCATAAAGAATTTCAAGATGGCAACATAGGAGCATGGAAACAAGAGTGGGACCCTGTGTGGCTTCCTCCATCCCTGAAGCTGGCCCTGAATCCAGTCACTGTCTGACAGCTGGACTTGAACCTGCCGCTTTATGGATGGGAAACCCGGGTTCTTTTCACTCTACCACCTCCTGCCTCTTCCAGGCACTCACTCCTGGATTCATCACTGGCAGGCACTCCAAAGAAAACTTGGCGGAACATCACACTAGCCTGGATGTGAGGATGACGCAGGGCCGGCTCCCAGGGGTTCTGTGTGTTGTGAAGGAGTGCGTCAGTGTGGGCATGTGTGTGGGTGTCCGTGGGAGTGCTATGCTGTGTGTGTGTGTGTGCATGAGATGCATGTGTATGGGCGCGTAGACCGTGTAGATACAATGCACCGGAGTGTGCTGTGTGGGGCTTGTCTCGCTCACTGATGCAGGGTGGAAGGCGTTGTCCTGCCTTAGCACGTGGGGACTCTCCAGGGCAGGCCCTAAACTCTATCGATTGGTTGGTCAGTTTCTCCCCTATAAGGCCCAGTGGCCACACCCAGGCCCCAGGGATGCCAACTGGCCAAGGCCATCTGGACCTGAGCCCCCCGCAGGAAGGGTTGGGCCGTGGTGGGAAGTGGGTGGGGTGGGCCGGAAGGGAGTAGCGCTGGGCCCCAGGCCGCTCACTTCTTGGGCTTCCGAGGTGAGATGTCCAGAGGCGTCCCAGGGGCTGGCATGTCCATGGGGAACATGTCCACCCACAGCTCCAGGCGGCCCTGAGGAAGAGGGTTGTGGCAGATCTCCCAGGGCCTTCTCCCTCTGCCCAGGAAGATCAGCTCTCCTCTCCCTCCTAACCTTTGTTCTGTCAAGGACCCAGTTCATCAGTTTCCATCTTTGGATGCCAGGAATTCCTATGATGTCACCAATAGCCAATCACAGCTTCTGAGGGAGACAACCCAGGTCTCTGCCTGAGCTGATGTAATTCTCACTCAAAGCAAAGACCCTTGCCATTCAAGTTACCCTGAGGGGCCTTGGTGGGAAGGTGCCTGCCAGGCTTTCTGGAATGCAGCGGACAGCGTGAGGCCTGGCTTCTACCTTTACTGACTCAGGTTGGGGATCCCTGGTCCCCAATACCCAAGAACCCCAGTCTTGGCCATGCAAGTGTCACCTGCTCGATGCCCGGCTTGTCGGGGTTGAGCAGCGGCCTCGTCTCCACATGCTCTGGCACCAGGCGGCAGCCTGCGCGGGGGATGTCCTCCCAGTGCCTCAGGGCCAACAGCGCCACATGCTCGTCTGTGGGCTTCCTCTGACCTGTGGGTGCCGGCGGCTCAGCTGCACACATGGCTCAGCAGAACCAGAAGACCTTTGCTGGGACTAGGGACTTAGGAGCACAAAGAAGCCTCTATGCCATCACCTGTCTACCCCACCTCCTTTTCACTGTTGGGGAAACTGAGGCACAGAAGGAGAAGTGGCTTGCCCAGGGTCTCAGCTGCCCCACAGGGCCAAGAGAGGTCTGTGCCCTTGGTCCTCTGCTTGGGGAAGTTGACTGGAGAGCCCTGCTGGGCTGAGAGAAGGGTCAGGGAGGGGAGAATCCACTTCCTGTCCCAGCACCTGAAAGTGATCAGATACCAGCACAGACACCTCCCAATTCTCTGCTTCTCTGGGAAGTGCCTCATGGACAGAGAAGTAAGGAGAGTTTAAGGATTAGAGCCAGATGGACCTGGGCCGATGCCCTCGCTCTGCCTCTAAAGAGCCACATGACCTTGGGCGAGTCACTAGAAGTAGGATCTTGGTTTGTTTATCTGCAGAATGGGATGCAGATAGCCTCTCTACCTCACTGGGATTTGGACAGAGAGAAAGCAGGTGGGGCTGCCCTGTAGGAGGGGTGGAAGCACAGAGGCTGGGCAGACAGGAACGGGGCTCTGGGGTGATGAGCAGAGGGTCACTAAGACCAGGTTTAGGCTGAGGACACCCCAGGCTAGGCTGTGAGGTTCCCCAGGGAAGTGTGGGCCCCTCCTGGCCTCTGAAACCCCCTGGAGAGGGGGCAGGCGGCTGCATCCAGTGCCCCATTACCGTTCTCGTCCTCAATCTCAGAGGGCCCAGTGAAGACGCGGTTGGCCACCTTCACTCTCCCAGGGGGCCCAAAGTGGGGGCCGTCCACTTTGCCGTCTTTGCAGAGGCGGGTCAGGATCTGGCTGGGCTTCATGGGGTCCCGCCAGATATTGTAGCCATGTCTGTGGGAGGGGACACACAGGCTTGGAGGGGCTGGGTGGGACTAAGCCATCCTGGATGACAGCTGGTCGTGGCCAGTTCTCTAAAGTTGGCTGTTGCCCTCATCAGCAAGTGAGCCTGATTCCTCCTGCCCTGGGCCCCAGGCTCACCTGAGACACTAGGGCTGCTGGAGGCTGAACCTTCCTGCCCTGGGCCTTGGACCACATATCAGTGTCCCCAGCCTAGCCCCACTGCATCCCCTCACTGTGCCCACTCCTCTGGAACCTCAGAGACTCCCATGAGGAAACTGAAAACCAGAGAGGTGAAGGGACTTGGCCAGGGTCACACAGCCTATAAGTGGCAGAGCTGGCCCAGATCCCCAGGGGACTCTTTCTGTCCTCCTCTTGCTAGCCCCCACCTTCCCTAGCCCACTTGTCTCTCCTCGTCCTGCCTCCTCTGTCCTGGAATCCACTGTCCCTCTCCTTGTTTTGGGATCTGCAGTCCTGTCCCCTGAAGACTGTGCCCAGGGACTGTAGGGGCAGAGGCCTGGCCTGGGACAGAAACCACAATGTCTAACCTCTCAAATCACCAGGATCTGAATCTCATTTTAGAGTGGAGGCAAAGCAGGCACACTGCCCCCGCCCTCTGCCCCATGCCCCACATACGTGGAGTAGGTCTGGGCGATGCCGCAGGTGGCGCGGTGCTTGCTGTAGAAGCGGTTCTCCAGGTCGATCTTGGTTTCCCCAATGAGGTCATCAGTGCCCACCAGGTCCCAGTCATACACAGCCACCGTCAGCATGGATTCCATGGGGAAGGAGGCCTCGATGTCAAAGGACCTGGTGGGGTGGAGTTAGGAGAAGGGCTTAAGGATTGGCTAGGGTGGGAGGTGTTCTGGGTTGGAGAAGTAGGGGTGTGGCAGGGGAGGGCACCAAGAAGCCTTACTTCCCAAAGACAGGGTTGAGCTGCTTGGAGATGTAGTTCTCCTTGTCGCGGATGTCAGTCTTGCCTAGCCGGATGGCGATGTAGGGGTCAGCTTTGCCGTTGATGTCAGCAGGGTGCAGGTCCGTGGCCTGGAATGGGGAGAAGGGCTGCCTGAGCAGGCTCCCATGCCCTGCTCATCTTCAGTG
GCCCCACCCAGCTCAGTCCCTCCCATGCAGGGACTGCTCACCCACCCCCTCACGAAGATGTCACTGGACTTCTCCCCTGTGAAGAAGTCGTCGTCCTCCAAGACCACCTCATCTGTGTTCCAGATGATGACCCGCAGCTCGTACCTGGGCCCAGGGAGAGAAGGCTGGTTAGCAGCCCCAGGTGGGGGTTATGCCAGGGTGCCAGGGCTGGGATGGGGCAGGCGGAGAGAAGCCCTGGGGTCTTGGGGTCAGCACAGGGCCTGGGCCAGGCTGGGGCTGGAGGAGTGGTTTGGGGTTGGGGGAGCAGAGGCATGAGTGAGAAGGCCCACCAGGCACATGGCTGTGGGCGGTGGGGGTGGGGTGAGGGGAGGAAGCCACCCTCTGTCTCAGATGCTAGTTCCAAGAGAAGTCTGCATTTAAGCCCAGTAGCCAGCAATGGAAGCCCATGGAAGCTGTATGTCCCTGTCCCCAAAGAGGATTTTCCCCTCAAGGTTTAATTGTAATTATGAATGATGTAGTTCATTTCAATCATTAAGAGTGAGGCTGAGTCATTCACTAAAAATTGATCTGAGCATGGCTCTCCTGGGATTGCAGACAGGGCTGCGAGCCCAGAGTGGCCCAGTGAGTTGGGTGCCCCCTAATGACAGGCCCTGGAACAGCTGACTCATGGCCTCAGGTTTCCAGGACATTCCTGGCAGAATTTGCTGCATGATTTGCTGGGGCCAGCGCCAAATGGAAATGCAGGGTCACTTGTCATAAAGAATTTCAAGATGGCAACATAGGAGCATGGAAACAAGAGTGGGACCCTGTGTGGCTTCCTCCATCCCTGAAGCTGGCCCTGAATCCAGTCACTGTCTGACAGCTGGACTTGAACCTGCCGCTTTATGGATGGGAAACCCGGGTTCTTTTCACTCTACCACCTCCTGCCTCTTCCAGGCACTCACTCCTGGATTCATCACTGGCAGGCACTCCAAAGAAAACTTGGCGGAACATCACACTAGCCTGGATGTGAGGATGACGCAGGGCCGGCTCCCAGGGGTTCTGTGTGTTGTGAAGGAGTGCGTCAGTGTGGGCATGTGTGTGGGTGTCCGTGGGAGTGCTATGCTGTGTGTGTGTGTGTGCATGAGATGCATGTGTATGGGCGCGTAGACCGTGTAGATACAATGCACCGGAGTGTGCTGTGTGGGGCTTGTCTCGCTCACTGATGCAGGGTGGAAGGCGTTGTCCTGCCTTAGCACGTGGGGACTCTCCAGGGCAGGCCCTAAACTCTATCGATTGGTTGGTCAGTTTCTCCCCTATAAGGCCCAGTGGCCACACCCAGGCCCCAGGGATGCCAACTGGCCAAGGCCATCTGGACCTGAGCCCCCCGCAGGAAGGGTTGGGCCGTGGTGGGAAGTGGGTGGGGTGGGCCGGAAGGGAGTAGCGCTGGGCCCCAGGCCGCTCACTTCTTGGGCTTCCGAGGTGAGATGTCCAGAGGCGTCCCAGGGGCTGGCATGTCCATGGGGAACATGTCCACCCACAGCTCCAGGCGGCCCTGAGGAAGAGGGTTGTGGCAGATCTCCCAGGGCCTTCTCCCTCTGCCCAGGAAGATCAGCTCTCCTCTCCCTCCTAACCTTTGTTCTGTCAAGGACCCAGTTCATCAGTTTCCATCTTTGGATGCCAGGAATTCCTATGATGTCACCAATAGCCAATCACAGCTTCTGAGGGAGACAACCCAGGTCTCTGCCTGAGCTGATGTAATTCTCACTCAAAGCAAAGACCCTTGCCATTCAAGTTACCCTGAGGGGCCTTGGTGGGAAGGTGCCTGCCAGGCTTTCTGGAATGCAGCGGACAGCGTGAGGCCTGGCTTCTACCTTTACTGACTCAGGTTGGGGATCCCTGGTCCCCAATACCCAAGAACCCCAGTCTTGGCCATGCAAGTGTCACCTGCTCGATGCCCGGCTTGTCGGGGTTGAGCAGCGGCCTCGTCTCCACATGCTCTGGCACCAGGCGGCAGCCTGCGCGGGGGATGTCCTCCCAGTGCCTCAGGGCCAACAGCGCCACATGCTTGTCTGTGGGCTTCCTCTGACCTGTGGGTGCCGGCGGCTCAGCTGCACACATGGCTCAGCAGAACCAGAAGACCTTTGCTGGGACTAGGGACTTAGGAGCACAAAGAAGCCTCTATGCCATCACCTGTCTACCCCACCTCCTTTTCACTGTTGGGGAAACTGAGGCACAGAAGGAGAAGTGGCTTGCCCAGGGTCTCAGCTGCCCCACAGGGCCAAGAGAGGTCTGTGCCCTTGGTCCTCTGCTTGGGGAAGTTGACTGGAGAGCCCTGCTGGGCTGAGAGAAGGGTCAGGGAGGGGAGAATCCACTTCCTGTCCCAGCACCTGAAAGTGATCAGATACCAGCACAGACACCTCCCAATTCTCTGCTTCTCTGGGAAGTGCCTCATGGACAGAGAAGTAAGGAGAGTTTAAGGATTAGAGCCAGATGGACCTGGGCCGATGCCCTCGCTCTGCCTCTAAAGAGCCACATGACCTTGGGCGAGTCACTAGAAGTAGGATCTTGGTTTGTTTATCTGCAGAATGGGATGCAGATAGCCTCTCTACCTCACTGGGATTTGGACAGAGAGAAAGCAGGTGGGGCTGCCCTGTAGGAGGGGTGGAAGCACAGAGGCTGGGCAGACAGGAACGGGGCTCTGGGGTGATGAGCAGAGGGTCACTAAGACCAGGTTTAGGCTGAGGACACCCCAGGCTAGGCTGTGAGGTTCCCCAGGGAAGTGTGGGCCCCTCCTGGCCTCTGAAACCCCCTGGAGAGGGGGCAGGCGGCTGCATCCAGTGCCCCATTACCGTTCTCGTCCTCAATCTCAGAGGGCCCAGTGAAGACGCGGTTGGCCACCTTCACTCTCCCAGGGGGCCCAAAGTGGGGGCCGTCCACTTTGCCGTCTTTGCAGAGGCGGGTCAGGATCTGGCTGGGCTTCATGGGGTCCCGCCAGATATTGTAGCCATGTCTGTGGGAGGGGACACACAGGCTTGGAGGGGCTGGGTGGGACTAAGCCATCCTGGATGACAGCTGGTCGTGGCCAGTTCTCTAAAGTTGGCTGTTGCCCTCATCAGCAAGTGAGCCTGATTCCTCCTGCCCTGGGCCCCAGGCTCACCTGAGACACTAGGGCTGCTGGAGGCTGAACCTTCCTGCCCTGGGCCTTGGACCACATATCAGTGTCCCCAGCCTAGCCCCACTGCATCCCCTCACTGTGCCCACTCCTCTGGAACCTCAGAGACTCCCATGAGGAAACTGAAAACCAGAGAGGTGAAGGGACTTGGCCAGGGTCACACAGCCTATAAGTGGCAGAGCTGGCCCAGATCCCCAGGGGACTCTTTCTGTCCTCCTCTTGCTAGCCCCCACCTTCCCTAGCCCACTTGTCTCTCCTCGTCCTGCCTCCTCTGTCCTGGAATCCACTGTCCCTCTCCTTGTTTTGGGATCTGCAGTCCTGTCCCCTGAAGACTGTGCCCAGGGACTGTAGGGGCAGAGGCCTGGCCTGGGACAGAAACCACAATGTCTAACCTCTCAAATCACCAGGATCTGAATCTCATTTTAGAGTGGAGGCAAAGCAGGCACACTGCCCCCGCCCTCTGCCCCATGCCCCACATACGTGGAGTAGGTCTGGGCGATGCCGCAGGTGGCGCGGTGCTTGCTGTAGAAGCGGTTCTCCAGGTCGATCTTGGTTTCCCCAATGAGGTCATCAGTGCCCACCAGGTCCCAGTCATACACAGCCACCGTCAGCATGGATTCCATGGGGAAGGAGGCCTCGATGTCAAAGGACCTGGTGGGGTGGAGTTAGGAGAAGGGCTTAAGGATTGGCTAGGGTGGGAGGTGTTCTGGGTTGGAGAAGTAGGGGTGTGGCAGGGGAGGGCACCAAGAAGCCTTACTTCCCAAAGACAGGGTTGAGCTGCTTGGAGATGTAGTTCTCCTTGTCGCGGATGTCAGTCTTGCCTAGCCGGATGGCGATGTAGGGGTCAGCTTTGCCGTTGATGTCAGCAGGGTGCAGGTCCGTGGCCTGGAATGGGGAGAAGGGCTGCCTGAGCAGGCTCCCATGCCCTGCTCATCTTCAGTG
Task1_train_3199
A sequence alteration has been identified in OTOF (otoferlin) on Chromosome 2. Is it disease-inducing or harmless?
Pathogenic; Autosomal recessive nonsyndromic hearing loss 9
GCTGGACTTGAACCTGCCGCTTTATGGATGGGAAACCCGGGTTCTTTTCACTCTACCACCTCCTGCCTCTTCCAGGCACTCACTCCTGGATTCATCACTGGCAGGCACTCCAAAGAAAACTTGGCGGAACATCACACTAGCCTGGATGTGAGGATGACGCAGGGCCGGCTCCCAGGGGTTCTGTGTGTTGTGAAGGAGTGCGTCAGTGTGGGCATGTGTGTGGGTGTCCGTGGGAGTGCTATGCTGTGTGTGTGTGTGTGCATGAGATGCATGTGTATGGGCGCGTAGACCGTGTAGATACAATGCACCGGAGTGTGCTGTGTGGGGCTTGTCTCGCTCACTGATGCAGGGTGGAAGGCGTTGTCCTGCCTTAGCACGTGGGGACTCTCCAGGGCAGGCCCTAAACTCTATCGATTGGTTGGTCAGTTTCTCCCCTATAAGGCCCAGTGGCCACACCCAGGCCCCAGGGATGCCAACTGGCCAAGGCCATCTGGACCTGAGCCCCCCGCAGGAAGGGTTGGGCCGTGGTGGGAAGTGGGTGGGGTGGGCCGGAAGGGAGTAGCGCTGGGCCCCAGGCCGCTCACTTCTTGGGCTTCCGAGGTGAGATGTCCAGAGGCGTCCCAGGGGCTGGCATGTCCATGGGGAACATGTCCACCCACAGCTCCAGGCGGCCCTGAGGAAGAGGGTTGTGGCAGATCTCCCAGGGCCTTCTCCCTCTGCCCAGGAAGATCAGCTCTCCTCTCCCTCCTAACCTTTGTTCTGTCAAGGACCCAGTTCATCAGTTTCCATCTTTGGATGCCAGGAATTCCTATGATGTCACCAATAGCCAATCACAGCTTCTGAGGGAGACAACCCAGGTCTCTGCCTGAGCTGATGTAATTCTCACTCAAAGCAAAGACCCTTGCCATTCAAGTTACCCTGAGGGGCCTTGGTGGGAAGGTGCCTGCCAGGCTTTCTGGAATGCAGCGGACAGCGTGAGGCCTGGCTTCTACCTTTACTGACTCAGGTTGGGGATCCCTGGTCCCCAATACCCAAGAACCCCAGTCTTGGCCATGCAAGTGTCACCTGCTCGATGCCCGGCTTGTCGGGGTTGAGCAGCGGCCTCGTCTCCACATGCTCTGGCACCAGGCGGCAGCCTGCGCGGGGGATGTCCTCCCAGTGCCTCAGGGCCAACAGCGCCACATGCTCGTCTGTGGGCTTCCTCTGACCTGTGGGTGCCGGCGGCTCAGCTGCACACATGGCTCAGCAGAACCAGAAGACCTTTGCTGGGACTAGGGACTTAGGAGCACAAAGAAGCCTCTATGCCATCACCTGTCTACCCCACCTCCTTTTCACTGTTGGGGAAACTGAGGCACAGAAGGAGAAGTGGCTTGCCCAGGGTCTCAGCTGCCCCACAGGGCCAAGAGAGGTCTGTGCCCTTGGTCCTCTGCTTGGGGAAGTTGACTGGAGAGCCCTGCTGGGCTGAGAGAAGGGTCAGGGAGGGGAGAATCCACTTCCTGTCCCAGCACCTGAAAGTGATCAGATACCAGCACAGACACCTCCCAATTCTCTGCTTCTCTGGGAAGTGCCTCATGGACAGAGAAGTAAGGAGAGTTTAAGGATTAGAGCCAGATGGACCTGGGCCGATGCCCTCGCTCTGCCTCTAAAGAGCCACATGACCTTGGGCGAGTCACTAGAAGTAGGATCTTGGTTTGTTTATCTGCAGAATGGGATGCAGATAGCCTCTCTACCTCACTGGGATTTGGACAGAGAGAAAGCAGGTGGGGCTGCCCTGTAGGAGGGGTGGAAGCACAGAGGCTGGGCAGACAGGAACGGGGCTCTGGGGTGATGAGCAGAGGGTCACTAAGACCAGGTTTAGGCTGAGGACACCCCAGGCTAGGCTGTGAGGTTCCCCAGGGAAGTGTGGGCCCCTCCTGGCCTCTGAAACCCCCTGGAGAGGGGGCAGGCGGCTGCATCCAGTGCCCCATTACCGTTCTCGTCCTCAATCTCAGAGGGCCCAGTGAAGACGCGGTTGGCCACCTTCACTCTCCCAGGGGGCCCAAAGTGGGGGCCGTCCACTTTGCCGTCTTTGCAGAGGCGGGTCAGGATCTGGCTGGGCTTCATGGGGTCCCGCCAGATATTGTAGCCATGTCTGTGGGAGGGGACACACAGGCTTGGAGGGGCTGGGTGGGACTAAGCCATCCTGGATGACAGCTGGTCGTGGCCAGTTCTCTAAAGTTGGCTGTTGCCCTCATCAGCAAGTGAGCCTGATTCCTCCTGCCCTGGGCCCCAGGCTCACCTGAGACACTAGGGCTGCTGGAGGCTGAACCTTCCTGCCCTGGGCCTTGGACCACATATCAGTGTCCCCAGCCTAGCCCCACTGCATCCCCTCACTGTGCCCACTCCTCTGGAACCTCAGAGACTCCCATGAGGAAACTGAAAACCAGAGAGGTGAAGGGACTTGGCCAGGGTCACACAGCCTATAAGTGGCAGAGCTGGCCCAGATCCCCAGGGGACTCTTTCTGTCCTCCTCTTGCTAGCCCCCACCTTCCCTAGCCCACTTGTCTCTCCTCGTCCTGCCTCCTCTGTCCTGGAATCCACTGTCCCTCTCCTTGTTTTGGGATCTGCAGTCCTGTCCCCTGAAGACTGTGCCCAGGGACTGTAGGGGCAGAGGCCTGGCCTGGGACAGAAACCACAATGTCTAACCTCTCAAATCACCAGGATCTGAATCTCATTTTAGAGTGGAGGCAAAGCAGGCACACTGCCCCCGCCCTCTGCCCCATGCCCCACATACGTGGAGTAGGTCTGGGCGATGCCGCAGGTGGCGCGGTGCTTGCTGTAGAAGCGGTTCTCCAGGTCGATCTTGGTTTCCCCAATGAGGTCATCAGTGCCCACCAGGTCCCAGTCATACACAGCCACCGTCAGCATGGATTCCATGGGGAAGGAGGCCTCGATGTCAAAGGACCTGGTGGGGTGGAGTTAGGAGAAGGGCTTAAGGATTGGCTAGGGTGGGAGGTGTTCTGGGTTGGAGAAGTAGGGGTGTGGCAGGGGAGGGCACCAAGAAGCCTTACTTCCCAAAGACAGGGTTGAGCTGCTTGGAGATGTAGTTCTCCTTGTCGCGGATGTCAGTCTTGCCTAGCCGGATGGCGATGTAGGGGTCAGCTTTGCCGTTGATGTCAGCAGGGTGCAGGTCCGTGGCCTGGAATGGGGAGAAGGGCTGCCTGAGCAGGCTCCCATGCCCTGCTCATCTTCAGTGCCCCTGCCAGGCTGCCTGAGGGTCCTATGACAGTGAAGGGCAGGGGCAGGAGCACTGGACCCCTCAGGAGGCTTGCTGTGTGACCCTAGGCAAGTGGCTACCCCTCTCTGGGCGTTGACTTCTTCCTCTAGAAAAGATAAAGACTAGACCAAATGATCTCCCTGGTGCCTCCCAGTCTGGGGCTGTCAGTATGCAGCTTCTTCTTCTTTTTTTTTTCCTTTGAGACAGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCAGCCTCCTCAGTAGCTGGGATTACAGGTGCGTGGCACTGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTAACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAACCATTGCACCTGGCCAGTATGCAGCTTCTTTGCTCTCTCCCAGATGGGAGGATGAGGAGACTTGCAAGGAGGGAAAGCGACGGGAGTCTCACCCGGACCACATAGACTCGGACCAGCACATTGATGGGGTCATTGCTCGGGATGCCCTGGAACATGCCGTAGGTGGAGTCGTAGCCGGCTTCCCGGGACACGTCCTCTGGGAGTGGCACTTTGTACACGCAGAGGGAGCCCTGGGCAAGACAAATGTGGGTCAGGGTGTAGGTTTGCCTGGCAAGGGTGGCATTCAAAATAGCTAACAGCACCAGGAGGGCTGGACCCTGATGTGGCAGGGCCTTCACCCTTTAACTGCTGAGTCATGGGAGAGTCCAGGGCT
GCTGGACTTGAACCTGCCGCTTTATGGATGGGAAACCCGGGTTCTTTTCACTCTACCACCTCCTGCCTCTTCCAGGCACTCACTCCTGGATTCATCACTGGCAGGCACTCCAAAGAAAACTTGGCGGAACATCACACTAGCCTGGATGTGAGGATGACGCAGGGCCGGCTCCCAGGGGTTCTGTGTGTTGTGAAGGAGTGCGTCAGTGTGGGCATGTGTGTGGGTGTCCGTGGGAGTGCTATGCTGTGTGTGTGTGTGTGCATGAGATGCATGTGTATGGGCGCGTAGACCGTGTAGATACAATGCACCGGAGTGTGCTGTGTGGGGCTTGTCTCGCTCACTGATGCAGGGTGGAAGGCGTTGTCCTGCCTTAGCACGTGGGGACTCTCCAGGGCAGGCCCTAAACTCTATCGATTGGTTGGTCAGTTTCTCCCCTATAAGGCCCAGTGGCCACACCCAGGCCCCAGGGATGCCAACTGGCCAAGGCCATCTGGACCTGAGCCCCCCGCAGGAAGGGTTGGGCCGTGGTGGGAAGTGGGTGGGGTGGGCCGGAAGGGAGTAGCGCTGGGCCCCAGGCCGCTCACTTCTTGGGCTTCCGAGGTGAGATGTCCAGAGGCGTCCCAGGGGCTGGCATGTCCATGGGGAACATGTCCACCCACAGCTCCAGGCGGCCCTGAGGAAGAGGGTTGTGGCAGATCTCCCAGGGCCTTCTCCCTCTGCCCAGGAAGATCAGCTCTCCTCTCCCTCCTAACCTTTGTTCTGTCAAGGACCCAGTTCATCAGTTTCCATCTTTGGATGCCAGGAATTCCTATGATGTCACCAATAGCCAATCACAGCTTCTGAGGGAGACAACCCAGGTCTCTGCCTGAGCTGATGTAATTCTCACTCAAAGCAAAGACCCTTGCCATTCAAGTTACCCTGAGGGGCCTTGGTGGGAAGGTGCCTGCCAGGCTTTCTGGAATGCAGCGGACAGCGTGAGGCCTGGCTTCTACCTTTACTGACTCAGGTTGGGGATCCCTGGTCCCCAATACCCAAGAACCCCAGTCTTGGCCATGCAAGTGTCACCTGCTCGATGCCCGGCTTGTCGGGGTTGAGCAGCGGCCTCGTCTCCACATGCTCTGGCACCAGGCGGCAGCCTGCGCGGGGGATGTCCTCCCAGTGCCTCAGGGCCAACAGCGCCACATGCTCGTCTGTGGGCTTCCTCTGACCTGTGGGTGCCGGCGGCTCAGCTGCACACATGGCTCAGCAGAACCAGAAGACCTTTGCTGGGACTAGGGACTTAGGAGCACAAAGAAGCCTCTATGCCATCACCTGTCTACCCCACCTCCTTTTCACTGTTGGGGAAACTGAGGCACAGAAGGAGAAGTGGCTTGCCCAGGGTCTCAGCTGCCCCACAGGGCCAAGAGAGGTCTGTGCCCTTGGTCCTCTGCTTGGGGAAGTTGACTGGAGAGCCCTGCTGGGCTGAGAGAAGGGTCAGGGAGGGGAGAATCCACTTCCTGTCCCAGCACCTGAAAGTGATCAGATACCAGCACAGACACCTCCCAATTCTCTGCTTCTCTGGGAAGTGCCTCATGGACAGAGAAGTAAGGAGAGTTTAAGGATTAGAGCCAGATGGACCTGGGCCGATGCCCTCGCTCTGCCTCTAAAGAGCCACATGACCTTGGGCGAGTCACTAGAAGTAGGATCTTGGTTTGTTTATCTGCAGAATGGGATGCAGATAGCCTCTCTACCTCACTGGGATTTGGACAGAGAGAAAGCAGGTGGGGCTGCCCTGTAGGAGGGGTGGAAGCACAGAGGCTGGGCAGACAGGAACGGGGCTCTGGGGTGATGAGCAGAGGGTCACTAAGACCAGGTTTAGGCTGAGGACACCCCAGGCTAGGCTGTGAGGTTCCCCAGGGAAGTGTGGGCCCCTCCTGGCCTCTGAAACCCCCTGGAGAGGGGGCAGGCGGCTGCATCCAGTGCCCCATTACCGTTCTCGTCCTCAATCTCAGAGGGCCCAGTGAAGACGCGGTTGGCCACCTTCACTCTCCCAGGGGGCCCAAAGTGGGTGCCGTCCACTTTGCCGTCTTTGCAGAGGCGGGTCAGGATCTGGCTGGGCTTCATGGGGTCCCGCCAGATATTGTAGCCATGTCTGTGGGAGGGGACACACAGGCTTGGAGGGGCTGGGTGGGACTAAGCCATCCTGGATGACAGCTGGTCGTGGCCAGTTCTCTAAAGTTGGCTGTTGCCCTCATCAGCAAGTGAGCCTGATTCCTCCTGCCCTGGGCCCCAGGCTCACCTGAGACACTAGGGCTGCTGGAGGCTGAACCTTCCTGCCCTGGGCCTTGGACCACATATCAGTGTCCCCAGCCTAGCCCCACTGCATCCCCTCACTGTGCCCACTCCTCTGGAACCTCAGAGACTCCCATGAGGAAACTGAAAACCAGAGAGGTGAAGGGACTTGGCCAGGGTCACACAGCCTATAAGTGGCAGAGCTGGCCCAGATCCCCAGGGGACTCTTTCTGTCCTCCTCTTGCTAGCCCCCACCTTCCCTAGCCCACTTGTCTCTCCTCGTCCTGCCTCCTCTGTCCTGGAATCCACTGTCCCTCTCCTTGTTTTGGGATCTGCAGTCCTGTCCCCTGAAGACTGTGCCCAGGGACTGTAGGGGCAGAGGCCTGGCCTGGGACAGAAACCACAATGTCTAACCTCTCAAATCACCAGGATCTGAATCTCATTTTAGAGTGGAGGCAAAGCAGGCACACTGCCCCCGCCCTCTGCCCCATGCCCCACATACGTGGAGTAGGTCTGGGCGATGCCGCAGGTGGCGCGGTGCTTGCTGTAGAAGCGGTTCTCCAGGTCGATCTTGGTTTCCCCAATGAGGTCATCAGTGCCCACCAGGTCCCAGTCATACACAGCCACCGTCAGCATGGATTCCATGGGGAAGGAGGCCTCGATGTCAAAGGACCTGGTGGGGTGGAGTTAGGAGAAGGGCTTAAGGATTGGCTAGGGTGGGAGGTGTTCTGGGTTGGAGAAGTAGGGGTGTGGCAGGGGAGGGCACCAAGAAGCCTTACTTCCCAAAGACAGGGTTGAGCTGCTTGGAGATGTAGTTCTCCTTGTCGCGGATGTCAGTCTTGCCTAGCCGGATGGCGATGTAGGGGTCAGCTTTGCCGTTGATGTCAGCAGGGTGCAGGTCCGTGGCCTGGAATGGGGAGAAGGGCTGCCTGAGCAGGCTCCCATGCCCTGCTCATCTTCAGTGCCCCTGCCAGGCTGCCTGAGGGTCCTATGACAGTGAAGGGCAGGGGCAGGAGCACTGGACCCCTCAGGAGGCTTGCTGTGTGACCCTAGGCAAGTGGCTACCCCTCTCTGGGCGTTGACTTCTTCCTCTAGAAAAGATAAAGACTAGACCAAATGATCTCCCTGGTGCCTCCCAGTCTGGGGCTGTCAGTATGCAGCTTCTTCTTCTTTTTTTTTTCCTTTGAGACAGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCAGCCTCCTCAGTAGCTGGGATTACAGGTGCGTGGCACTGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTAACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAACCATTGCACCTGGCCAGTATGCAGCTTCTTTGCTCTCTCCCAGATGGGAGGATGAGGAGACTTGCAAGGAGGGAAAGCGACGGGAGTCTCACCCGGACCACATAGACTCGGACCAGCACATTGATGGGGTCATTGCTCGGGATGCCCTGGAACATGCCGTAGGTGGAGTCGTAGCCGGCTTCCCGGGACACGTCCTCTGGGAGTGGCACTTTGTACACGCAGAGGGAGCCCTGGGCAAGACAAATGTGGGTCAGGGTGTAGGTTTGCCTGGCAAGGGTGGCATTCAAAATAGCTAACAGCACCAGGAGGGCTGGACCCTGATGTGGCAGGGCCTTCACCCTTTAACTGCTGAGTCATGGGAGAGTCCAGGGCT