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_22700
Assess the clinical impact of this variant on gene BBS2 (Bardet-Biedl syndrome 2), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Bardet-Biedl syndrome 2
AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACATCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACAGCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
Task1_train_22701
A change on Chromosome 16 affects gene BBS2 (Bardet-Biedl syndrome 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Retinitis pigmentosa 74
AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACATCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACAGCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
Task1_train_22702
A genetic alteration is present in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Familial hypokalemia-hypomagnesemia
CCAGACCCTAACTCACCTCTTTCATCCCCTGACAGCTCAAATTTCCACCACTGCCTCCCTGCAATGGCTTAGGCACCTCTGGTAACAAGAGTGCTGCTCCCATGCCACCTGCATGCAAGGTGTGGCCTCAGAGTGCTGGCAAAATCGGGTCCTGATCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGTGGGAGGCTGAGGTAGGAGACTCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCATCCAGGGTCAGGTGGTTGGGGTGACTTGAGACCCCATCTCTACAAAAAGTAAAAACAAATTAGCCAAACATGATGGTGTATGCCTGTGGCCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTCTTGAAGTCTGGTGGTTGAGGCTTCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGAACCTGTCTCAAAAAAAAAAAAAAAATTATATAATTCATCTATTCAAAACTACTAAATAATTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACGATGGTGCGATCTGGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGATCCATCCACCTCAGCCTCCCAATATTAAATAAATTTTTTAAATCCAAATACTAATATGAGAGGTTTTTGAACTCTCATAGAGTAGGACCCAGAGTGTGTCCTCAGGCTAAGGGAGGACACCACCCCTCATATTGTCTTATGCCCAGTTTCTGCTTCCAAAGAAAGAAAAAGTAAAAATTAAAAGGCAGAAATGAAATCCACAAGCAGACAGCCCGGCGCCACACCCTGGGCCTGGTAGTTAAAGATCGAGCCCTGACCTAATCGGTTATGTAATCTATAGATTACAGACATTTTATAGAAATGCACTTTGAAAATCCCTGTCCTGTTTTGTTCCAATCTAATGATCGGTGCATGCAGCCCCCAGTCACGTACCCCCTGCTTGCTCAATCAATCACGACCCTCTCACATGCACCCCCTTAGAGTTGTGAGCCCTGAAAAGGGACAGGAATTGCTCACTCTGGGAGCTCGGCTCTTGAGACAGGAGTCTTGCCGATGCCCCCCGGCCGAATAAACCCCTTCCTTCTTTAAGTCGGTGTTTGAGGAGTTTTGACTGCAGCTCGTCCTGCTACAAAGCCACCAGGCTATCTCTAGGATCCCTTATGGGGCCCCTCAGGGTCCTCTCTGACAACTCCTTCTTGGGTCCTGGCTGAAGATCTCTGCTGCCCCCAGACTCAGAAGAGCCACTCCAGGACTCAGGGAGTGGCTGGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAGGTAAGTGCTGTCTCAGAAGACTGGCCACTTCCCTGCTGTGTGACCTCGACCCAGCTACCTAACCTCTCTGAGCCTCAGTTCTGTCATCTGTGCCATGGGGATGGAGGAGCGTCTTCTTCCTGGGTTGAGAGGCCCCAGTGAAATAGTGGAGCTGCAGAAATCTGGGCACATGTTGGAATGTATATTAGCCAATCACTAGCAACCCAAAGCTAGAGTGGGAGGCCTAGAGAGGTAATGAGCTTCCAGTGAGTAGAAGCATGCAAGCAGGTTGCACACCCCTGAAAGAGACAGGGCAAGAAGGGCCTGGGAAGGTTCACCTCAGAGAGAGGGCTCGCCGGGTTTGCTGCCCGGGAGGCTGGACTGTGAAGAGTGGAGGGCTGGAAGGTGGATTGTCATGACCCCTGTCTGGCCTCACTTTTCCCATATGACAATTGGGCTGAATTGTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAGCGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAAGGATCCACCCACCTTGGCCTCCCAACGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGC
CCAGACCCTAACTCACCTCTTTCATCCCCTGACAGCTCAAATTTCCACCACTGCCTCCCTGCAATGGCTTAGGCACCTCTGGTAACAAGAGTGCTGCTCCCATGCCACCTGCATGCAAGGTGTGGCCTCAGAGTGCTGGCAAAATCGGGTCCTGATCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGTGGGAGGCTGAGGTAGGAGACTCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCATCCAGGGTCAGGTGGTTGGGGTGACTTGAGACCCCATCTCTACAAAAAGTAAAAACAAATTAGCCAAACATGATGGTGTATGCCTGTGGCCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTCTTGAAGTCTGGTGGTTGAGGCTTCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGAACCTGTCTCAAAAAAAAAAAAAAAATTATATAATTCATCTATTCAAAACTACTAAATAATTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACGATGGTGCGATCTGGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGATCCATCCACCTCAGCCTCCCAATATTAAATAAATTTTTTAAATCCAAATACTAATATGAGAGGTTTTTGAACTCTCATAGAGTAGGACCCAGAGTGTGTCCTCAGGCTAAGGGAGGACACCACCCCTCATATTGTCTTATGCCCAGTTTCTGCTTCCAAAGAAAGAAAAAGTAAAAATTAAAAGGCAGAAATGAAATCCACAAGCAGACAGCCCGGCGCCACACCCTGGGCCTGGTAGTTAAAGATCGAGCCCTGACCTAATCGGTTATGTAATCTATAGATTACAGACATTTTATAGAAATGCACTTTGAAAATCCCTGTCCTGTTTTGTTCCAATCTAATGATCGGTGCATGCAGCCCCCAGTCACGTACCCCCTGCTTGCTCAATCAATCACGACCCTCTCACATGCACCCCCTTAGAGTTGTGAGCCCTGAAAAGGGACAGGAATTGCTCACTCTGGGAGCTCGGCTCTTGAGACAGGAGTCTTGCCGATGCCCCCCGGCCGAATAAACCCCTTCCTTCTTTAAGTCGGTGTTTGAGGAGTTTTGACTGCAGCTCGTCCTGCTACAAAGCCACCAGGCTATCTCTAGGATCCCTTATGGGGCCCCTCAGGGTCCTCTCTGACAACTCCTTCTTGGGTCCTGGCTGAAGATCTCTGCTGCCCCCAGACTCAGAAGAGCCACTCCAGGACTCAGGGAGTGGCTGGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAGTGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAGGTAAGTGCTGTCTCAGAAGACTGGCCACTTCCCTGCTGTGTGACCTCGACCCAGCTACCTAACCTCTCTGAGCCTCAGTTCTGTCATCTGTGCCATGGGGATGGAGGAGCGTCTTCTTCCTGGGTTGAGAGGCCCCAGTGAAATAGTGGAGCTGCAGAAATCTGGGCACATGTTGGAATGTATATTAGCCAATCACTAGCAACCCAAAGCTAGAGTGGGAGGCCTAGAGAGGTAATGAGCTTCCAGTGAGTAGAAGCATGCAAGCAGGTTGCACACCCCTGAAAGAGACAGGGCAAGAAGGGCCTGGGAAGGTTCACCTCAGAGAGAGGGCTCGCCGGGTTTGCTGCCCGGGAGGCTGGACTGTGAAGAGTGGAGGGCTGGAAGGTGGATTGTCATGACCCCTGTCTGGCCTCACTTTTCCCATATGACAATTGGGCTGAATTGTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAGCGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAAGGATCCACCCACCTTGGCCTCCCAACGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGC
Task1_train_22703
An alteration has been detected in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Familial hypokalemia-hypomagnesemia
ACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGTGGGAGGCTGAGGTAGGAGACTCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCATCCAGGGTCAGGTGGTTGGGGTGACTTGAGACCCCATCTCTACAAAAAGTAAAAACAAATTAGCCAAACATGATGGTGTATGCCTGTGGCCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTCTTGAAGTCTGGTGGTTGAGGCTTCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGAACCTGTCTCAAAAAAAAAAAAAAAATTATATAATTCATCTATTCAAAACTACTAAATAATTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACGATGGTGCGATCTGGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGATCCATCCACCTCAGCCTCCCAATATTAAATAAATTTTTTAAATCCAAATACTAATATGAGAGGTTTTTGAACTCTCATAGAGTAGGACCCAGAGTGTGTCCTCAGGCTAAGGGAGGACACCACCCCTCATATTGTCTTATGCCCAGTTTCTGCTTCCAAAGAAAGAAAAAGTAAAAATTAAAAGGCAGAAATGAAATCCACAAGCAGACAGCCCGGCGCCACACCCTGGGCCTGGTAGTTAAAGATCGAGCCCTGACCTAATCGGTTATGTAATCTATAGATTACAGACATTTTATAGAAATGCACTTTGAAAATCCCTGTCCTGTTTTGTTCCAATCTAATGATCGGTGCATGCAGCCCCCAGTCACGTACCCCCTGCTTGCTCAATCAATCACGACCCTCTCACATGCACCCCCTTAGAGTTGTGAGCCCTGAAAAGGGACAGGAATTGCTCACTCTGGGAGCTCGGCTCTTGAGACAGGAGTCTTGCCGATGCCCCCCGGCCGAATAAACCCCTTCCTTCTTTAAGTCGGTGTTTGAGGAGTTTTGACTGCAGCTCGTCCTGCTACAAAGCCACCAGGCTATCTCTAGGATCCCTTATGGGGCCCCTCAGGGTCCTCTCTGACAACTCCTTCTTGGGTCCTGGCTGAAGATCTCTGCTGCCCCCAGACTCAGAAGAGCCACTCCAGGACTCAGGGAGTGGCTGGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAGGTAAGTGCTGTCTCAGAAGACTGGCCACTTCCCTGCTGTGTGACCTCGACCCAGCTACCTAACCTCTCTGAGCCTCAGTTCTGTCATCTGTGCCATGGGGATGGAGGAGCGTCTTCTTCCTGGGTTGAGAGGCCCCAGTGAAATAGTGGAGCTGCAGAAATCTGGGCACATGTTGGAATGTATATTAGCCAATCACTAGCAACCCAAAGCTAGAGTGGGAGGCCTAGAGAGGTAATGAGCTTCCAGTGAGTAGAAGCATGCAAGCAGGTTGCACACCCCTGAAAGAGACAGGGCAAGAAGGGCCTGGGAAGGTTCACCTCAGAGAGAGGGCTCGCCGGGTTTGCTGCCCGGGAGGCTGGACTGTGAAGAGTGGAGGGCTGGAAGGTGGATTGTCATGACCCCTGTCTGGCCTCACTTTTCCCATATGACAATTGGGCTGAATTGTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAGCGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAAGGATCCACCCACCTTGGCCTCCCAACGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTG
ACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGTGGGAGGCTGAGGTAGGAGACTCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCATCCAGGGTCAGGTGGTTGGGGTGACTTGAGACCCCATCTCTACAAAAAGTAAAAACAAATTAGCCAAACATGATGGTGTATGCCTGTGGCCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTCTTGAAGTCTGGTGGTTGAGGCTTCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGAACCTGTCTCAAAAAAAAAAAAAAAATTATATAATTCATCTATTCAAAACTACTAAATAATTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACGATGGTGCGATCTGGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGATCCATCCACCTCAGCCTCCCAATATTAAATAAATTTTTTAAATCCAAATACTAATATGAGAGGTTTTTGAACTCTCATAGAGTAGGACCCAGAGTGTGTCCTCAGGCTAAGGGAGGACACCACCCCTCATATTGTCTTATGCCCAGTTTCTGCTTCCAAAGAAAGAAAAAGTAAAAATTAAAAGGCAGAAATGAAATCCACAAGCAGACAGCCCGGCGCCACACCCTGGGCCTGGTAGTTAAAGATCGAGCCCTGACCTAATCGGTTATGTAATCTATAGATTACAGACATTTTATAGAAATGCACTTTGAAAATCCCTGTCCTGTTTTGTTCCAATCTAATGATCGGTGCATGCAGCCCCCAGTCACGTACCCCCTGCTTGCTCAATCAATCACGACCCTCTCACATGCACCCCCTTAGAGTTGTGAGCCCTGAAAAGGGACAGGAATTGCTCACTCTGGGAGCTCGGCTCTTGAGACAGGAGTCTTGCCGATGCCCCCCGGCCGAATAAACCCCTTCCTTCTTTAAGTCGGTGTTTGAGGAGTTTTGACTGCAGCTCGTCCTGCTACAAAGCCACCAGGCTATCTCTAGGATCCCTTATGGGGCCCCTCAGGGTCCTCTCTGACAACTCCTTCTTGGGTCCTGGCTGAAGATCTCTGCTGCCCCCAGACTCAGAAGAGCCACTCCAGGACTCAGGGAGTGGCTGGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACATGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAGGTAAGTGCTGTCTCAGAAGACTGGCCACTTCCCTGCTGTGTGACCTCGACCCAGCTACCTAACCTCTCTGAGCCTCAGTTCTGTCATCTGTGCCATGGGGATGGAGGAGCGTCTTCTTCCTGGGTTGAGAGGCCCCAGTGAAATAGTGGAGCTGCAGAAATCTGGGCACATGTTGGAATGTATATTAGCCAATCACTAGCAACCCAAAGCTAGAGTGGGAGGCCTAGAGAGGTAATGAGCTTCCAGTGAGTAGAAGCATGCAAGCAGGTTGCACACCCCTGAAAGAGACAGGGCAAGAAGGGCCTGGGAAGGTTCACCTCAGAGAGAGGGCTCGCCGGGTTTGCTGCCCGGGAGGCTGGACTGTGAAGAGTGGAGGGCTGGAAGGTGGATTGTCATGACCCCTGTCTGGCCTCACTTTTCCCATATGACAATTGGGCTGAATTGTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAGCGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAAGGATCCACCCACCTTGGCCTCCCAACGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTG
Task1_train_22704
A genetic alteration is present in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Familial hypokalemia-hypomagnesemia
CCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGTGGGAGGCTGAGGTAGGAGACTCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCATCCAGGGTCAGGTGGTTGGGGTGACTTGAGACCCCATCTCTACAAAAAGTAAAAACAAATTAGCCAAACATGATGGTGTATGCCTGTGGCCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTCTTGAAGTCTGGTGGTTGAGGCTTCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGAACCTGTCTCAAAAAAAAAAAAAAAATTATATAATTCATCTATTCAAAACTACTAAATAATTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACGATGGTGCGATCTGGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGATCCATCCACCTCAGCCTCCCAATATTAAATAAATTTTTTAAATCCAAATACTAATATGAGAGGTTTTTGAACTCTCATAGAGTAGGACCCAGAGTGTGTCCTCAGGCTAAGGGAGGACACCACCCCTCATATTGTCTTATGCCCAGTTTCTGCTTCCAAAGAAAGAAAAAGTAAAAATTAAAAGGCAGAAATGAAATCCACAAGCAGACAGCCCGGCGCCACACCCTGGGCCTGGTAGTTAAAGATCGAGCCCTGACCTAATCGGTTATGTAATCTATAGATTACAGACATTTTATAGAAATGCACTTTGAAAATCCCTGTCCTGTTTTGTTCCAATCTAATGATCGGTGCATGCAGCCCCCAGTCACGTACCCCCTGCTTGCTCAATCAATCACGACCCTCTCACATGCACCCCCTTAGAGTTGTGAGCCCTGAAAAGGGACAGGAATTGCTCACTCTGGGAGCTCGGCTCTTGAGACAGGAGTCTTGCCGATGCCCCCCGGCCGAATAAACCCCTTCCTTCTTTAAGTCGGTGTTTGAGGAGTTTTGACTGCAGCTCGTCCTGCTACAAAGCCACCAGGCTATCTCTAGGATCCCTTATGGGGCCCCTCAGGGTCCTCTCTGACAACTCCTTCTTGGGTCCTGGCTGAAGATCTCTGCTGCCCCCAGACTCAGAAGAGCCACTCCAGGACTCAGGGAGTGGCTGGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAGGTAAGTGCTGTCTCAGAAGACTGGCCACTTCCCTGCTGTGTGACCTCGACCCAGCTACCTAACCTCTCTGAGCCTCAGTTCTGTCATCTGTGCCATGGGGATGGAGGAGCGTCTTCTTCCTGGGTTGAGAGGCCCCAGTGAAATAGTGGAGCTGCAGAAATCTGGGCACATGTTGGAATGTATATTAGCCAATCACTAGCAACCCAAAGCTAGAGTGGGAGGCCTAGAGAGGTAATGAGCTTCCAGTGAGTAGAAGCATGCAAGCAGGTTGCACACCCCTGAAAGAGACAGGGCAAGAAGGGCCTGGGAAGGTTCACCTCAGAGAGAGGGCTCGCCGGGTTTGCTGCCCGGGAGGCTGGACTGTGAAGAGTGGAGGGCTGGAAGGTGGATTGTCATGACCCCTGTCTGGCCTCACTTTTCCCATATGACAATTGGGCTGAATTGTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAGCGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAAGGATCCACCCACCTTGGCCTCCCAACGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTC
CCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGTGGGAGGCTGAGGTAGGAGACTCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCATCCAGGGTCAGGTGGTTGGGGTGACTTGAGACCCCATCTCTACAAAAAGTAAAAACAAATTAGCCAAACATGATGGTGTATGCCTGTGGCCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTCTTGAAGTCTGGTGGTTGAGGCTTCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGAACCTGTCTCAAAAAAAAAAAAAAAATTATATAATTCATCTATTCAAAACTACTAAATAATTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACGATGGTGCGATCTGGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGATCCATCCACCTCAGCCTCCCAATATTAAATAAATTTTTTAAATCCAAATACTAATATGAGAGGTTTTTGAACTCTCATAGAGTAGGACCCAGAGTGTGTCCTCAGGCTAAGGGAGGACACCACCCCTCATATTGTCTTATGCCCAGTTTCTGCTTCCAAAGAAAGAAAAAGTAAAAATTAAAAGGCAGAAATGAAATCCACAAGCAGACAGCCCGGCGCCACACCCTGGGCCTGGTAGTTAAAGATCGAGCCCTGACCTAATCGGTTATGTAATCTATAGATTACAGACATTTTATAGAAATGCACTTTGAAAATCCCTGTCCTGTTTTGTTCCAATCTAATGATCGGTGCATGCAGCCCCCAGTCACGTACCCCCTGCTTGCTCAATCAATCACGACCCTCTCACATGCACCCCCTTAGAGTTGTGAGCCCTGAAAAGGGACAGGAATTGCTCACTCTGGGAGCTCGGCTCTTGAGACAGGAGTCTTGCCGATGCCCCCCGGCCGAATAAACCCCTTCCTTCTTTAAGTCGGTGTTTGAGGAGTTTTGACTGCAGCTCGTCCTGCTACAAAGCCACCAGGCTATCTCTAGGATCCCTTATGGGGCCCCTCAGGGTCCTCTCTGACAACTCCTTCTTGGGTCCTGGCTGAAGATCTCTGCTGCCCCCAGACTCAGAAGAGCCACTCCAGGACTCAGGGAGTGGCTGGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGGTGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAGGTAAGTGCTGTCTCAGAAGACTGGCCACTTCCCTGCTGTGTGACCTCGACCCAGCTACCTAACCTCTCTGAGCCTCAGTTCTGTCATCTGTGCCATGGGGATGGAGGAGCGTCTTCTTCCTGGGTTGAGAGGCCCCAGTGAAATAGTGGAGCTGCAGAAATCTGGGCACATGTTGGAATGTATATTAGCCAATCACTAGCAACCCAAAGCTAGAGTGGGAGGCCTAGAGAGGTAATGAGCTTCCAGTGAGTAGAAGCATGCAAGCAGGTTGCACACCCCTGAAAGAGACAGGGCAAGAAGGGCCTGGGAAGGTTCACCTCAGAGAGAGGGCTCGCCGGGTTTGCTGCCCGGGAGGCTGGACTGTGAAGAGTGGAGGGCTGGAAGGTGGATTGTCATGACCCCTGTCTGGCCTCACTTTTCCCATATGACAATTGGGCTGAATTGTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAGCGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAAGGATCCACCCACCTTGGCCTCCCAACGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTC
Task1_train_22705
A mutation found in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; not provided
CCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGTGGGAGGCTGAGGTAGGAGACTCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCATCCAGGGTCAGGTGGTTGGGGTGACTTGAGACCCCATCTCTACAAAAAGTAAAAACAAATTAGCCAAACATGATGGTGTATGCCTGTGGCCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTCTTGAAGTCTGGTGGTTGAGGCTTCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGAACCTGTCTCAAAAAAAAAAAAAAAATTATATAATTCATCTATTCAAAACTACTAAATAATTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACGATGGTGCGATCTGGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGATCCATCCACCTCAGCCTCCCAATATTAAATAAATTTTTTAAATCCAAATACTAATATGAGAGGTTTTTGAACTCTCATAGAGTAGGACCCAGAGTGTGTCCTCAGGCTAAGGGAGGACACCACCCCTCATATTGTCTTATGCCCAGTTTCTGCTTCCAAAGAAAGAAAAAGTAAAAATTAAAAGGCAGAAATGAAATCCACAAGCAGACAGCCCGGCGCCACACCCTGGGCCTGGTAGTTAAAGATCGAGCCCTGACCTAATCGGTTATGTAATCTATAGATTACAGACATTTTATAGAAATGCACTTTGAAAATCCCTGTCCTGTTTTGTTCCAATCTAATGATCGGTGCATGCAGCCCCCAGTCACGTACCCCCTGCTTGCTCAATCAATCACGACCCTCTCACATGCACCCCCTTAGAGTTGTGAGCCCTGAAAAGGGACAGGAATTGCTCACTCTGGGAGCTCGGCTCTTGAGACAGGAGTCTTGCCGATGCCCCCCGGCCGAATAAACCCCTTCCTTCTTTAAGTCGGTGTTTGAGGAGTTTTGACTGCAGCTCGTCCTGCTACAAAGCCACCAGGCTATCTCTAGGATCCCTTATGGGGCCCCTCAGGGTCCTCTCTGACAACTCCTTCTTGGGTCCTGGCTGAAGATCTCTGCTGCCCCCAGACTCAGAAGAGCCACTCCAGGACTCAGGGAGTGGCTGGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAGGTAAGTGCTGTCTCAGAAGACTGGCCACTTCCCTGCTGTGTGACCTCGACCCAGCTACCTAACCTCTCTGAGCCTCAGTTCTGTCATCTGTGCCATGGGGATGGAGGAGCGTCTTCTTCCTGGGTTGAGAGGCCCCAGTGAAATAGTGGAGCTGCAGAAATCTGGGCACATGTTGGAATGTATATTAGCCAATCACTAGCAACCCAAAGCTAGAGTGGGAGGCCTAGAGAGGTAATGAGCTTCCAGTGAGTAGAAGCATGCAAGCAGGTTGCACACCCCTGAAAGAGACAGGGCAAGAAGGGCCTGGGAAGGTTCACCTCAGAGAGAGGGCTCGCCGGGTTTGCTGCCCGGGAGGCTGGACTGTGAAGAGTGGAGGGCTGGAAGGTGGATTGTCATGACCCCTGTCTGGCCTCACTTTTCCCATATGACAATTGGGCTGAATTGTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAGCGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAAGGATCCACCCACCTTGGCCTCCCAACGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTCTCCTCCATGAAGGGAAGGAAAAGGTTTGCTATAGTGAGGAGCAGGATTAAGTTTCCAGACAGTAGACAATCAAGGACACTTGG
CCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGTGGGAGGCTGAGGTAGGAGACTCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCATCCAGGGTCAGGTGGTTGGGGTGACTTGAGACCCCATCTCTACAAAAAGTAAAAACAAATTAGCCAAACATGATGGTGTATGCCTGTGGCCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTCTTGAAGTCTGGTGGTTGAGGCTTCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGAACCTGTCTCAAAAAAAAAAAAAAAATTATATAATTCATCTATTCAAAACTACTAAATAATTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACGATGGTGCGATCTGGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGATCCATCCACCTCAGCCTCCCAATATTAAATAAATTTTTTAAATCCAAATACTAATATGAGAGGTTTTTGAACTCTCATAGAGTAGGACCCAGAGTGTGTCCTCAGGCTAAGGGAGGACACCACCCCTCATATTGTCTTATGCCCAGTTTCTGCTTCCAAAGAAAGAAAAAGTAAAAATTAAAAGGCAGAAATGAAATCCACAAGCAGACAGCCCGGCGCCACACCCTGGGCCTGGTAGTTAAAGATCGAGCCCTGACCTAATCGGTTATGTAATCTATAGATTACAGACATTTTATAGAAATGCACTTTGAAAATCCCTGTCCTGTTTTGTTCCAATCTAATGATCGGTGCATGCAGCCCCCAGTCACGTACCCCCTGCTTGCTCAATCAATCACGACCCTCTCACATGCACCCCCTTAGAGTTGTGAGCCCTGAAAAGGGACAGGAATTGCTCACTCTGGGAGCTCGGCTCTTGAGACAGGAGTCTTGCCGATGCCCCCCGGCCGAATAAACCCCTTCCTTCTTTAAGTCGGTGTTTGAGGAGTTTTGACTGCAGCTCGTCCTGCTACAAAGCCACCAGGCTATCTCTAGGATCCCTTATGGGGCCCCTCAGGGTCCTCTCTGACAACTCCTTCTTGGGTCCTGGCTGAAGATCTCTGCTGCCCCCAGACTCAGAAGAGCCACTCCAGGACTCAGGGAGTGGCTGGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGTACTCCTTCCTCAAGGTAAGTGCTGTCTCAGAAGACTGGCCACTTCCCTGCTGTGTGACCTCGACCCAGCTACCTAACCTCTCTGAGCCTCAGTTCTGTCATCTGTGCCATGGGGATGGAGGAGCGTCTTCTTCCTGGGTTGAGAGGCCCCAGTGAAATAGTGGAGCTGCAGAAATCTGGGCACATGTTGGAATGTATATTAGCCAATCACTAGCAACCCAAAGCTAGAGTGGGAGGCCTAGAGAGGTAATGAGCTTCCAGTGAGTAGAAGCATGCAAGCAGGTTGCACACCCCTGAAAGAGACAGGGCAAGAAGGGCCTGGGAAGGTTCACCTCAGAGAGAGGGCTCGCCGGGTTTGCTGCCCGGGAGGCTGGACTGTGAAGAGTGGAGGGCTGGAAGGTGGATTGTCATGACCCCTGTCTGGCCTCACTTTTCCCATATGACAATTGGGCTGAATTGTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAGCGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAAGGATCCACCCACCTTGGCCTCCCAACGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTCTCCTCCATGAAGGGAAGGAAAAGGTTTGCTATAGTGAGGAGCAGGATTAAGTTTCCAGACAGTAGACAATCAAGGACACTTGG
Task1_train_22706
The following genetic variant occurs in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Familial hypokalemia-hypomagnesemia
CTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTCTCCTCCATGAAGGGAAGGAAAAGGTTTGCTATAGTGAGGAGCAGGATTAAGTTTCCAGACAGTAGACAATCAAGGACACTTGGCTTTGGAGACATTATGGGACTTTACAGAGGGGATCTTATGGGATGTAGAAGGCTTTAGCCCTGCTCCGGGAGGCAGGAGGCTGGGGTTCTGATCTTAACGCTGCCAACTGGCTGTGCCTCCGTTTCTCCATCTGAACCACGAGCCCTCCCCGACCCCCAGATGCTCTTATTCAGAGCTGGGATCTCCCTCCTGGGCTGTGTTGCCAGAGCCGGGAACGGCCCTGCAACTCAGTGGGGCCAGCGACCACACCAGCCCCTCCCACCTGGAAGCTTCAGCCTCCATCTCGGCCTCTGGCTTTGCTTTAAATTTGGAAGCTGAAGTCACAGCCACCTGAGCTCTGATATCTGCTCTTACATGGGGCGCTGGCTCACCTGGCATTTGCTGAGCTCCCTGTAAATGCCAGGCTCTGGATCAACTGCTGACCACTGGGGCCATGGTCGGGGCTGGCAGACACAGGATCCTGGGCTTGGGATGGATACAGTGAGGGCTAACAGTGCTGGTAGCCTAGCGTCAGGACTCAACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAG
CTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTCTCCTCCATGAAGGGAAGGAAAAGGTTTGCTATAGTGAGGAGCAGGATTAAGTTTCCAGACAGTAGACAATCAAGGACACTTGGCTTTGGAGACATTATGGGACTTTACAGAGGGGATCTTATGGGATGTAGAAGGCTTTAGCCCTGCTCCGGGAGGCAGGAGGCTGGGGTTCTGATCTTAACGCTGCCAACTGGCTGTGCCTCCGTTTCTCCATCTGAACCACGAGCCCTCCCCGACCCCCAGATGCTCTTATTCAGAGCTGGGATCTCCCTCCTGGGCTGTGTTGCCAGAGCCGGGAACGGCCCTGCAACTCAGTGGGGCCAGCGACCACACCAGCCCCTCCCACCTGGAAGCTTCAGCCTCCATCTCGGCCTCTGGCTTTGCTTTAAATTTGGAAGCTGAAGTCACAGCCACCTGAGCTCTGATATCTGCTCTTACATGGGGCGCTGGCTCACCTGGCATTTGCTGAGCTCCCTGTAAATGCCAGGCTCTGGATCAACTGCTGACCACTGGGGCCATGGTCGGGGCTGGCAGACACAGGATCCTGGGCTTGGGATGGATACAGTGAGGGCTAACAGTGCTGGTAGCCTAGCGTCAGGACTCAACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTTGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAG
Task1_train_22707
This variant affects the gene SLC12A3 (solute carrier family 12 member 3) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Familial hypokalemia-hypomagnesemia
TGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTCTCCTCCATGAAGGGAAGGAAAAGGTTTGCTATAGTGAGGAGCAGGATTAAGTTTCCAGACAGTAGACAATCAAGGACACTTGGCTTTGGAGACATTATGGGACTTTACAGAGGGGATCTTATGGGATGTAGAAGGCTTTAGCCCTGCTCCGGGAGGCAGGAGGCTGGGGTTCTGATCTTAACGCTGCCAACTGGCTGTGCCTCCGTTTCTCCATCTGAACCACGAGCCCTCCCCGACCCCCAGATGCTCTTATTCAGAGCTGGGATCTCCCTCCTGGGCTGTGTTGCCAGAGCCGGGAACGGCCCTGCAACTCAGTGGGGCCAGCGACCACACCAGCCCCTCCCACCTGGAAGCTTCAGCCTCCATCTCGGCCTCTGGCTTTGCTTTAAATTTGGAAGCTGAAGTCACAGCCACCTGAGCTCTGATATCTGCTCTTACATGGGGCGCTGGCTCACCTGGCATTTGCTGAGCTCCCTGTAAATGCCAGGCTCTGGATCAACTGCTGACCACTGGGGCCATGGTCGGGGCTGGCAGACACAGGATCCTGGGCTTGGGATGGATACAGTGAGGGCTAACAGTGCTGGTAGCCTAGCGTCAGGACTCAACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTC
TGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTCTCCTCCATGAAGGGAAGGAAAAGGTTTGCTATAGTGAGGAGCAGGATTAAGTTTCCAGACAGTAGACAATCAAGGACACTTGGCTTTGGAGACATTATGGGACTTTACAGAGGGGATCTTATGGGATGTAGAAGGCTTTAGCCCTGCTCCGGGAGGCAGGAGGCTGGGGTTCTGATCTTAACGCTGCCAACTGGCTGTGCCTCCGTTTCTCCATCTGAACCACGAGCCCTCCCCGACCCCCAGATGCTCTTATTCAGAGCTGGGATCTCCCTCCTGGGCTGTGTTGCCAGAGCCGGGAACGGCCCTGCAACTCAGTGGGGCCAGCGACCACACCAGCCCCTCCCACCTGGAAGCTTCAGCCTCCATCTCGGCCTCTGGCTTTGCTTTAAATTTGGAAGCTGAAGTCACAGCCACCTGAGCTCTGATATCTGCTCTTACATGGGGCGCTGGCTCACCTGGCATTTGCTGAGCTCCCTGTAAATGCCAGGCTCTGGATCAACTGCTGACCACTGGGGCCATGGTCGGGGCTGGCAGACACAGGATCCTGGGCTTGGGATGGATACAGTGAGGGCTAACAGTGCTGGTAGCCTAGCGTCAGGACTCAACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCAGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTC
Task1_train_22708
This gene mutation involves SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; Familial hypokalemia-hypomagnesemia
GGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTCTCCTCCATGAAGGGAAGGAAAAGGTTTGCTATAGTGAGGAGCAGGATTAAGTTTCCAGACAGTAGACAATCAAGGACACTTGGCTTTGGAGACATTATGGGACTTTACAGAGGGGATCTTATGGGATGTAGAAGGCTTTAGCCCTGCTCCGGGAGGCAGGAGGCTGGGGTTCTGATCTTAACGCTGCCAACTGGCTGTGCCTCCGTTTCTCCATCTGAACCACGAGCCCTCCCCGACCCCCAGATGCTCTTATTCAGAGCTGGGATCTCCCTCCTGGGCTGTGTTGCCAGAGCCGGGAACGGCCCTGCAACTCAGTGGGGCCAGCGACCACACCAGCCCCTCCCACCTGGAAGCTTCAGCCTCCATCTCGGCCTCTGGCTTTGCTTTAAATTTGGAAGCTGAAGTCACAGCCACCTGAGCTCTGATATCTGCTCTTACATGGGGCGCTGGCTCACCTGGCATTTGCTGAGCTCCCTGTAAATGCCAGGCTCTGGATCAACTGCTGACCACTGGGGCCATGGTCGGGGCTGGCAGACACAGGATCCTGGGCTTGGGATGGATACAGTGAGGGCTAACAGTGCTGGTAGCCTAGCGTCAGGACTCAACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCA
GGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTCTCCTCCATGAAGGGAAGGAAAAGGTTTGCTATAGTGAGGAGCAGGATTAAGTTTCCAGACAGTAGACAATCAAGGACACTTGGCTTTGGAGACATTATGGGACTTTACAGAGGGGATCTTATGGGATGTAGAAGGCTTTAGCCCTGCTCCGGGAGGCAGGAGGCTGGGGTTCTGATCTTAACGCTGCCAACTGGCTGTGCCTCCGTTTCTCCATCTGAACCACGAGCCCTCCCCGACCCCCAGATGCTCTTATTCAGAGCTGGGATCTCCCTCCTGGGCTGTGTTGCCAGAGCCGGGAACGGCCCTGCAACTCAGTGGGGCCAGCGACCACACCAGCCCCTCCCACCTGGAAGCTTCAGCCTCCATCTCGGCCTCTGGCTTTGCTTTAAATTTGGAAGCTGAAGTCACAGCCACCTGAGCTCTGATATCTGCTCTTACATGGGGCGCTGGCTCACCTGGCATTTGCTGAGCTCCCTGTAAATGCCAGGCTCTGGATCAACTGCTGACCACTGGGGCCATGGTCGGGGCTGGCAGACACAGGATCCTGGGCTTGGGATGGATACAGTGAGGGCTAACAGTGCTGGTAGCCTAGCGTCAGGACTCAACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTATGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCA
Task1_train_22709
A genetic alteration is present in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Familial hypokalemia-hypomagnesemia
AACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGC
AACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCTGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGC
Task1_train_22710
A variant on Chromosome 16 in gene SLC12A3 (solute carrier family 12 member 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Familial hypokalemia-hypomagnesemia
ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCT
ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCAGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCT
Task1_train_22711
This alteration in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; SLC12A3-related disorder
ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCT
ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCAGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCT
Task1_train_22712
Mutation context: Chromosome 16, Gene SLC12A3 (solute carrier family 12 member 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Inborn genetic diseases
ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCT
ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCAGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCT
Task1_train_22713
A sequence alteration has been identified in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it disease-inducing or harmless?
Pathogenic; not provided
GTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGT
GTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGAGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGT
Task1_train_22714
Here is a genetic alteration in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Familial hypokalemia-hypomagnesemia
AGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACT
AGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCCTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACT
Task1_train_22715
This variant impacts the gene SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
Pathogenic; Familial hypokalemia-hypomagnesemia
GATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACTGCTATATTCCCAACTCCTTGAACAGATCCTGCTGCATAATGGGTGTTGAATGAATGAGTGAGTGAATAATGGAGAAACGGGCCCTGGGCAAATCATTTTCTGGCGGGGCTTCCCAGAGAGGTAGAACAAAACTATCTGACCTCTGGGGTCCTTCGCCCCCTCCAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTATTTAGTGGGGACGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTACCGGGGTATGTGCTGATCAAGGCCCTGACCATGGCTCTGGGGACAGGGACTCTCTACCCAGGAATCTGGCCCATTGTGTGGACACTGGGAGGATGGGATTACCCAATCCCATGGTCAGGGGCTGCCTGCCCAGTGGGTCCCAGCAAGGGGGGTCAAGCCCTCCAGGTGAGCCTTACTCATCAGGCCTTGCTTTTCCAGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATATCTGGTGACCTCAAGGTGAGCAGAATACTTGCCCCTCCTGTGTCCTGGCACTGCACAGGGGCTATGAGCAGAATCCTGCCCCCTGCTCTAGTGGCATCTGCCGCTGACCTGGGAGGCAGGGCTTCTAAAATCCAGTCCAGTCCAACTCAGCTCAGTTCAACCCAATCCAACCGATTCCATTCCGTTCTGAGGTTGTTTATGAAGACCAGCTGCGTTCTAGGCTTGAGGGACACCACAGAATGGCTAGGTTCCTCCCTAGTTCCCAGAACTCTCAGCCTTAGGGGAAGACTGGCCCAGCTGTGACCTTAAGAGCCCAGCCTTGCTCATGCACATCTTTGCTGGGCTGACATCCTCCCAGGGCTCCCCACTGCCTTGCTGCAGGCAGGCTTCTTGGCTTGGCATTCAAGGCTCCAGCCTGCCTGTCTAGCCTCATCCCTGACCAGTGCCACCCTTCCCATGAGCCTGCTGCAGCCCTGAGGCTCTACTGCTTTGCCCGTGTTACCTCGTCCCTCCTCCACGCCTTTGCCTGTGCTGCGCTCTCTACCTGCAACTCCGTACGCTTGCTTTTTTACCCTGAAAGTCTGTTCTGTTTCTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCGCACCCGGTTAATATTTGTATTTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATTCGCCTGGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACCATGCCTAGCCTCTTTTATTTATTTTATTTTATTTTTTTTTTTTTGAGATGAAGTCTCGGTCTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGTTGAGACTACAGGCACCTGCCACCACGCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAAGTGATCCACCCGATTTGTCTTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTTCTCCTGGCCTGTTTCTCTTTCAAATACCGCCTTCAACTATCATCTCTCCCAGCCCTTCCATCAGAGTCATGGTTCCCCAGCATAATGATGTTGGGCCAAACGCGTATCTGTTGCCCCGGCATCTGGAGAACGGAGACTTGCCTCTGTCTCCCTATTCCCTCCCAGCTCAGAGCCTGGCACATACTAGGTGCTCTGTACATGTTTGTTGACTGAATCATGGTGAAATGCAGTGTTTGAGCAGTAGCACAAAGTGCTGCACCAGCAGGGAGAAGGAGAGACTGATGTTGGCAGGGGTTCCAGCAGAATTTCTGGGTGCAGGAGGCGCCAGAGCTGGGCTTTGAAAGGTGACAAGCTGGCAGAACCTTTGCTCAAGGGAGGTGGCAGGCAAGAGGGGGTGATGAATGGGGAGCTAGCCCCACACTGGAAATCACAGCTAACCCCTACCCCAAACCT
GATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACTGCTATATTCCCAACTCCTTGAACAGATCCTGCTGCATAATGGGTGTTGAATGAATGAGTGAGTGAATAATGGAGAAACGGGCCCTGGGCAAATCATTTTCTGGCGGGGCTTCCCAGAGAGGTAGAACAAAACTATCTGACCTCTGGGGTCCTTCGCCCCCTCCAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTATTTAGTGGGGCCGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTACCGGGGTATGTGCTGATCAAGGCCCTGACCATGGCTCTGGGGACAGGGACTCTCTACCCAGGAATCTGGCCCATTGTGTGGACACTGGGAGGATGGGATTACCCAATCCCATGGTCAGGGGCTGCCTGCCCAGTGGGTCCCAGCAAGGGGGGTCAAGCCCTCCAGGTGAGCCTTACTCATCAGGCCTTGCTTTTCCAGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATATCTGGTGACCTCAAGGTGAGCAGAATACTTGCCCCTCCTGTGTCCTGGCACTGCACAGGGGCTATGAGCAGAATCCTGCCCCCTGCTCTAGTGGCATCTGCCGCTGACCTGGGAGGCAGGGCTTCTAAAATCCAGTCCAGTCCAACTCAGCTCAGTTCAACCCAATCCAACCGATTCCATTCCGTTCTGAGGTTGTTTATGAAGACCAGCTGCGTTCTAGGCTTGAGGGACACCACAGAATGGCTAGGTTCCTCCCTAGTTCCCAGAACTCTCAGCCTTAGGGGAAGACTGGCCCAGCTGTGACCTTAAGAGCCCAGCCTTGCTCATGCACATCTTTGCTGGGCTGACATCCTCCCAGGGCTCCCCACTGCCTTGCTGCAGGCAGGCTTCTTGGCTTGGCATTCAAGGCTCCAGCCTGCCTGTCTAGCCTCATCCCTGACCAGTGCCACCCTTCCCATGAGCCTGCTGCAGCCCTGAGGCTCTACTGCTTTGCCCGTGTTACCTCGTCCCTCCTCCACGCCTTTGCCTGTGCTGCGCTCTCTACCTGCAACTCCGTACGCTTGCTTTTTTACCCTGAAAGTCTGTTCTGTTTCTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCGCACCCGGTTAATATTTGTATTTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATTCGCCTGGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACCATGCCTAGCCTCTTTTATTTATTTTATTTTATTTTTTTTTTTTTGAGATGAAGTCTCGGTCTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGTTGAGACTACAGGCACCTGCCACCACGCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAAGTGATCCACCCGATTTGTCTTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTTCTCCTGGCCTGTTTCTCTTTCAAATACCGCCTTCAACTATCATCTCTCCCAGCCCTTCCATCAGAGTCATGGTTCCCCAGCATAATGATGTTGGGCCAAACGCGTATCTGTTGCCCCGGCATCTGGAGAACGGAGACTTGCCTCTGTCTCCCTATTCCCTCCCAGCTCAGAGCCTGGCACATACTAGGTGCTCTGTACATGTTTGTTGACTGAATCATGGTGAAATGCAGTGTTTGAGCAGTAGCACAAAGTGCTGCACCAGCAGGGAGAAGGAGAGACTGATGTTGGCAGGGGTTCCAGCAGAATTTCTGGGTGCAGGAGGCGCCAGAGCTGGGCTTTGAAAGGTGACAAGCTGGCAGAACCTTTGCTCAAGGGAGGTGGCAGGCAAGAGGGGGTGATGAATGGGGAGCTAGCCCCACACTGGAAATCACAGCTAACCCCTACCCCAAACCT
Task1_train_22716
The gene SLC12A3 (solute carrier family 12 member 3) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Familial hypokalemia-hypomagnesemia
ATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACTGCTATATTCCCAACTCCTTGAACAGATCCTGCTGCATAATGGGTGTTGAATGAATGAGTGAGTGAATAATGGAGAAACGGGCCCTGGGCAAATCATTTTCTGGCGGGGCTTCCCAGAGAGGTAGAACAAAACTATCTGACCTCTGGGGTCCTTCGCCCCCTCCAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTATTTAGTGGGGACGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTACCGGGGTATGTGCTGATCAAGGCCCTGACCATGGCTCTGGGGACAGGGACTCTCTACCCAGGAATCTGGCCCATTGTGTGGACACTGGGAGGATGGGATTACCCAATCCCATGGTCAGGGGCTGCCTGCCCAGTGGGTCCCAGCAAGGGGGGTCAAGCCCTCCAGGTGAGCCTTACTCATCAGGCCTTGCTTTTCCAGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATATCTGGTGACCTCAAGGTGAGCAGAATACTTGCCCCTCCTGTGTCCTGGCACTGCACAGGGGCTATGAGCAGAATCCTGCCCCCTGCTCTAGTGGCATCTGCCGCTGACCTGGGAGGCAGGGCTTCTAAAATCCAGTCCAGTCCAACTCAGCTCAGTTCAACCCAATCCAACCGATTCCATTCCGTTCTGAGGTTGTTTATGAAGACCAGCTGCGTTCTAGGCTTGAGGGACACCACAGAATGGCTAGGTTCCTCCCTAGTTCCCAGAACTCTCAGCCTTAGGGGAAGACTGGCCCAGCTGTGACCTTAAGAGCCCAGCCTTGCTCATGCACATCTTTGCTGGGCTGACATCCTCCCAGGGCTCCCCACTGCCTTGCTGCAGGCAGGCTTCTTGGCTTGGCATTCAAGGCTCCAGCCTGCCTGTCTAGCCTCATCCCTGACCAGTGCCACCCTTCCCATGAGCCTGCTGCAGCCCTGAGGCTCTACTGCTTTGCCCGTGTTACCTCGTCCCTCCTCCACGCCTTTGCCTGTGCTGCGCTCTCTACCTGCAACTCCGTACGCTTGCTTTTTTACCCTGAAAGTCTGTTCTGTTTCTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCGCACCCGGTTAATATTTGTATTTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATTCGCCTGGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACCATGCCTAGCCTCTTTTATTTATTTTATTTTATTTTTTTTTTTTTGAGATGAAGTCTCGGTCTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGTTGAGACTACAGGCACCTGCCACCACGCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAAGTGATCCACCCGATTTGTCTTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTTCTCCTGGCCTGTTTCTCTTTCAAATACCGCCTTCAACTATCATCTCTCCCAGCCCTTCCATCAGAGTCATGGTTCCCCAGCATAATGATGTTGGGCCAAACGCGTATCTGTTGCCCCGGCATCTGGAGAACGGAGACTTGCCTCTGTCTCCCTATTCCCTCCCAGCTCAGAGCCTGGCACATACTAGGTGCTCTGTACATGTTTGTTGACTGAATCATGGTGAAATGCAGTGTTTGAGCAGTAGCACAAAGTGCTGCACCAGCAGGGAGAAGGAGAGACTGATGTTGGCAGGGGTTCCAGCAGAATTTCTGGGTGCAGGAGGCGCCAGAGCTGGGCTTTGAAAGGTGACAAGCTGGCAGAACCTTTGCTCAAGGGAGGTGGCAGGCAAGAGGGGGTGATGAATGGGGAGCTAGCCCCACACTGGAAATCACAGCTAACCCCTACCCCAAACCTC
ATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACTGCTATATTCCCAACTCCTTGAACAGATCCTGCTGCATAATGGGTGTTGAATGAATGAGTGAGTGAATAATGGAGAAACGGGCCCTGGGCAAATCATTTTCTGGCGGGGCTTCCCAGAGAGGTAGAACAAAACTATCTGACCTCTGGGGTCCTTCGCCCCCTCCAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTATTTAGTGGGGATGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTACCGGGGTATGTGCTGATCAAGGCCCTGACCATGGCTCTGGGGACAGGGACTCTCTACCCAGGAATCTGGCCCATTGTGTGGACACTGGGAGGATGGGATTACCCAATCCCATGGTCAGGGGCTGCCTGCCCAGTGGGTCCCAGCAAGGGGGGTCAAGCCCTCCAGGTGAGCCTTACTCATCAGGCCTTGCTTTTCCAGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATATCTGGTGACCTCAAGGTGAGCAGAATACTTGCCCCTCCTGTGTCCTGGCACTGCACAGGGGCTATGAGCAGAATCCTGCCCCCTGCTCTAGTGGCATCTGCCGCTGACCTGGGAGGCAGGGCTTCTAAAATCCAGTCCAGTCCAACTCAGCTCAGTTCAACCCAATCCAACCGATTCCATTCCGTTCTGAGGTTGTTTATGAAGACCAGCTGCGTTCTAGGCTTGAGGGACACCACAGAATGGCTAGGTTCCTCCCTAGTTCCCAGAACTCTCAGCCTTAGGGGAAGACTGGCCCAGCTGTGACCTTAAGAGCCCAGCCTTGCTCATGCACATCTTTGCTGGGCTGACATCCTCCCAGGGCTCCCCACTGCCTTGCTGCAGGCAGGCTTCTTGGCTTGGCATTCAAGGCTCCAGCCTGCCTGTCTAGCCTCATCCCTGACCAGTGCCACCCTTCCCATGAGCCTGCTGCAGCCCTGAGGCTCTACTGCTTTGCCCGTGTTACCTCGTCCCTCCTCCACGCCTTTGCCTGTGCTGCGCTCTCTACCTGCAACTCCGTACGCTTGCTTTTTTACCCTGAAAGTCTGTTCTGTTTCTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCGCACCCGGTTAATATTTGTATTTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATTCGCCTGGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACCATGCCTAGCCTCTTTTATTTATTTTATTTTATTTTTTTTTTTTTGAGATGAAGTCTCGGTCTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGTTGAGACTACAGGCACCTGCCACCACGCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAAGTGATCCACCCGATTTGTCTTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTTCTCCTGGCCTGTTTCTCTTTCAAATACCGCCTTCAACTATCATCTCTCCCAGCCCTTCCATCAGAGTCATGGTTCCCCAGCATAATGATGTTGGGCCAAACGCGTATCTGTTGCCCCGGCATCTGGAGAACGGAGACTTGCCTCTGTCTCCCTATTCCCTCCCAGCTCAGAGCCTGGCACATACTAGGTGCTCTGTACATGTTTGTTGACTGAATCATGGTGAAATGCAGTGTTTGAGCAGTAGCACAAAGTGCTGCACCAGCAGGGAGAAGGAGAGACTGATGTTGGCAGGGGTTCCAGCAGAATTTCTGGGTGCAGGAGGCGCCAGAGCTGGGCTTTGAAAGGTGACAAGCTGGCAGAACCTTTGCTCAAGGGAGGTGGCAGGCAAGAGGGGGTGATGAATGGGGAGCTAGCCCCACACTGGAAATCACAGCTAACCCCTACCCCAAACCTC
Task1_train_22717
The gene SLC12A3 (solute carrier family 12 member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Familial hypokalemia-hypomagnesemia
TGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACTGCTATATTCCCAACTCCTTGAACAGATCCTGCTGCATAATGGGTGTTGAATGAATGAGTGAGTGAATAATGGAGAAACGGGCCCTGGGCAAATCATTTTCTGGCGGGGCTTCCCAGAGAGGTAGAACAAAACTATCTGACCTCTGGGGTCCTTCGCCCCCTCCAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTATTTAGTGGGGACGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTACCGGGGTATGTGCTGATCAAGGCCCTGACCATGGCTCTGGGGACAGGGACTCTCTACCCAGGAATCTGGCCCATTGTGTGGACACTGGGAGGATGGGATTACCCAATCCCATGGTCAGGGGCTGCCTGCCCAGTGGGTCCCAGCAAGGGGGGTCAAGCCCTCCAGGTGAGCCTTACTCATCAGGCCTTGCTTTTCCAGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATATCTGGTGACCTCAAGGTGAGCAGAATACTTGCCCCTCCTGTGTCCTGGCACTGCACAGGGGCTATGAGCAGAATCCTGCCCCCTGCTCTAGTGGCATCTGCCGCTGACCTGGGAGGCAGGGCTTCTAAAATCCAGTCCAGTCCAACTCAGCTCAGTTCAACCCAATCCAACCGATTCCATTCCGTTCTGAGGTTGTTTATGAAGACCAGCTGCGTTCTAGGCTTGAGGGACACCACAGAATGGCTAGGTTCCTCCCTAGTTCCCAGAACTCTCAGCCTTAGGGGAAGACTGGCCCAGCTGTGACCTTAAGAGCCCAGCCTTGCTCATGCACATCTTTGCTGGGCTGACATCCTCCCAGGGCTCCCCACTGCCTTGCTGCAGGCAGGCTTCTTGGCTTGGCATTCAAGGCTCCAGCCTGCCTGTCTAGCCTCATCCCTGACCAGTGCCACCCTTCCCATGAGCCTGCTGCAGCCCTGAGGCTCTACTGCTTTGCCCGTGTTACCTCGTCCCTCCTCCACGCCTTTGCCTGTGCTGCGCTCTCTACCTGCAACTCCGTACGCTTGCTTTTTTACCCTGAAAGTCTGTTCTGTTTCTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCGCACCCGGTTAATATTTGTATTTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATTCGCCTGGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACCATGCCTAGCCTCTTTTATTTATTTTATTTTATTTTTTTTTTTTTGAGATGAAGTCTCGGTCTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGTTGAGACTACAGGCACCTGCCACCACGCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAAGTGATCCACCCGATTTGTCTTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTTCTCCTGGCCTGTTTCTCTTTCAAATACCGCCTTCAACTATCATCTCTCCCAGCCCTTCCATCAGAGTCATGGTTCCCCAGCATAATGATGTTGGGCCAAACGCGTATCTGTTGCCCCGGCATCTGGAGAACGGAGACTTGCCTCTGTCTCCCTATTCCCTCCCAGCTCAGAGCCTGGCACATACTAGGTGCTCTGTACATGTTTGTTGACTGAATCATGGTGAAATGCAGTGTTTGAGCAGTAGCACAAAGTGCTGCACCAGCAGGGAGAAGGAGAGACTGATGTTGGCAGGGGTTCCAGCAGAATTTCTGGGTGCAGGAGGCGCCAGAGCTGGGCTTTGAAAGGTGACAAGCTGGCAGAACCTTTGCTCAAGGGAGGTGGCAGGCAAGAGGGGGTGATGAATGGGGAGCTAGCCCCACACTGGAAATCACAGCTAACCCCTACCCCAAACCTCCAGTCTCATTTGGAAGGCGCTCCTTGATGCATTTTCTTAAGCAAATTAAGAGCTGTGCATTGAGCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGAAGGCCAGAGCAGGTGGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGGCTAACATGATGAAACTGTTTTAGTCTCCACTAAAAACATAAAAATTAGCCGGGTGTGGTGGTGGGTTCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTGCTAGAACCCGGAAGGCGGAGGTTGCAGTGAGCCAAGATGGCGCCACTACACTCCAGCCTGGGTGACAGAGCGGAACTCCATCTCAAACCTCACCC
TGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACTGCTATATTCCCAACTCCTTGAACAGATCCTGCTGCATAATGGGTGTTGAATGAATGAGTGAGTGAATAATGGAGAAACGGGCCCTGGGCAAATCATTTTCTGGCGGGGCTTCCCAGAGAGGTAGAACAAAACTATCTGACCTCTGGGGTCCTTCGCCCCCTCCAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTATTTAGTGGGGACGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTACCGGGGTATGTGCTGATCAAGGCCCTGACCATGGCTCTGGGGACAGGGACTCTCTACCCAGGAATCTGGCCCATTGTGTGGACACTGGGAGGATGGGATTACCCAATCCCATGGTCAGGGGCTGCCTGCCCAGTGGGTCCCAGCAAGGGGGGTCAAGCCCTCCAGGTGAGCCTTACTCATCAGGCCTTGCTTTTCCAGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAAGATATCTGGTGACCTCAAGGTGAGCAGAATACTTGCCCCTCCTGTGTCCTGGCACTGCACAGGGGCTATGAGCAGAATCCTGCCCCCTGCTCTAGTGGCATCTGCCGCTGACCTGGGAGGCAGGGCTTCTAAAATCCAGTCCAGTCCAACTCAGCTCAGTTCAACCCAATCCAACCGATTCCATTCCGTTCTGAGGTTGTTTATGAAGACCAGCTGCGTTCTAGGCTTGAGGGACACCACAGAATGGCTAGGTTCCTCCCTAGTTCCCAGAACTCTCAGCCTTAGGGGAAGACTGGCCCAGCTGTGACCTTAAGAGCCCAGCCTTGCTCATGCACATCTTTGCTGGGCTGACATCCTCCCAGGGCTCCCCACTGCCTTGCTGCAGGCAGGCTTCTTGGCTTGGCATTCAAGGCTCCAGCCTGCCTGTCTAGCCTCATCCCTGACCAGTGCCACCCTTCCCATGAGCCTGCTGCAGCCCTGAGGCTCTACTGCTTTGCCCGTGTTACCTCGTCCCTCCTCCACGCCTTTGCCTGTGCTGCGCTCTCTACCTGCAACTCCGTACGCTTGCTTTTTTACCCTGAAAGTCTGTTCTGTTTCTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCGCACCCGGTTAATATTTGTATTTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATTCGCCTGGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACCATGCCTAGCCTCTTTTATTTATTTTATTTTATTTTTTTTTTTTTGAGATGAAGTCTCGGTCTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGTTGAGACTACAGGCACCTGCCACCACGCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAAGTGATCCACCCGATTTGTCTTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTTCTCCTGGCCTGTTTCTCTTTCAAATACCGCCTTCAACTATCATCTCTCCCAGCCCTTCCATCAGAGTCATGGTTCCCCAGCATAATGATGTTGGGCCAAACGCGTATCTGTTGCCCCGGCATCTGGAGAACGGAGACTTGCCTCTGTCTCCCTATTCCCTCCCAGCTCAGAGCCTGGCACATACTAGGTGCTCTGTACATGTTTGTTGACTGAATCATGGTGAAATGCAGTGTTTGAGCAGTAGCACAAAGTGCTGCACCAGCAGGGAGAAGGAGAGACTGATGTTGGCAGGGGTTCCAGCAGAATTTCTGGGTGCAGGAGGCGCCAGAGCTGGGCTTTGAAAGGTGACAAGCTGGCAGAACCTTTGCTCAAGGGAGGTGGCAGGCAAGAGGGGGTGATGAATGGGGAGCTAGCCCCACACTGGAAATCACAGCTAACCCCTACCCCAAACCTCCAGTCTCATTTGGAAGGCGCTCCTTGATGCATTTTCTTAAGCAAATTAAGAGCTGTGCATTGAGCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGAAGGCCAGAGCAGGTGGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGGCTAACATGATGAAACTGTTTTAGTCTCCACTAAAAACATAAAAATTAGCCGGGTGTGGTGGTGGGTTCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTGCTAGAACCCGGAAGGCGGAGGTTGCAGTGAGCCAAGATGGCGCCACTACACTCCAGCCTGGGTGACAGAGCGGAACTCCATCTCAAACCTCACCC
Task1_train_22718
Located on Chromosome 16, this mutation impacts SLC12A3 (solute carrier family 12 member 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; not provided
GGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACTGCTATATTCCCAACTCCTTGAACAGATCCTGCTGCATAATGGGTGTTGAATGAATGAGTGAGTGAATAATGGAGAAACGGGCCCTGGGCAAATCATTTTCTGGCGGGGCTTCCCAGAGAGGTAGAACAAAACTATCTGACCTCTGGGGTCCTTCGCCCCCTCCAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTATTTAGTGGGGACGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTACCGGGGTATGTGCTGATCAAGGCCCTGACCATGGCTCTGGGGACAGGGACTCTCTACCCAGGAATCTGGCCCATTGTGTGGACACTGGGAGGATGGGATTACCCAATCCCATGGTCAGGGGCTGCCTGCCCAGTGGGTCCCAGCAAGGGGGGTCAAGCCCTCCAGGTGAGCCTTACTCATCAGGCCTTGCTTTTCCAGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATATCTGGTGACCTCAAGGTGAGCAGAATACTTGCCCCTCCTGTGTCCTGGCACTGCACAGGGGCTATGAGCAGAATCCTGCCCCCTGCTCTAGTGGCATCTGCCGCTGACCTGGGAGGCAGGGCTTCTAAAATCCAGTCCAGTCCAACTCAGCTCAGTTCAACCCAATCCAACCGATTCCATTCCGTTCTGAGGTTGTTTATGAAGACCAGCTGCGTTCTAGGCTTGAGGGACACCACAGAATGGCTAGGTTCCTCCCTAGTTCCCAGAACTCTCAGCCTTAGGGGAAGACTGGCCCAGCTGTGACCTTAAGAGCCCAGCCTTGCTCATGCACATCTTTGCTGGGCTGACATCCTCCCAGGGCTCCCCACTGCCTTGCTGCAGGCAGGCTTCTTGGCTTGGCATTCAAGGCTCCAGCCTGCCTGTCTAGCCTCATCCCTGACCAGTGCCACCCTTCCCATGAGCCTGCTGCAGCCCTGAGGCTCTACTGCTTTGCCCGTGTTACCTCGTCCCTCCTCCACGCCTTTGCCTGTGCTGCGCTCTCTACCTGCAACTCCGTACGCTTGCTTTTTTACCCTGAAAGTCTGTTCTGTTTCTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCGCACCCGGTTAATATTTGTATTTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATTCGCCTGGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACCATGCCTAGCCTCTTTTATTTATTTTATTTTATTTTTTTTTTTTTGAGATGAAGTCTCGGTCTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGTTGAGACTACAGGCACCTGCCACCACGCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAAGTGATCCACCCGATTTGTCTTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTTCTCCTGGCCTGTTTCTCTTTCAAATACCGCCTTCAACTATCATCTCTCCCAGCCCTTCCATCAGAGTCATGGTTCCCCAGCATAATGATGTTGGGCCAAACGCGTATCTGTTGCCCCGGCATCTGGAGAACGGAGACTTGCCTCTGTCTCCCTATTCCCTCCCAGCTCAGAGCCTGGCACATACTAGGTGCTCTGTACATGTTTGTTGACTGAATCATGGTGAAATGCAGTGTTTGAGCAGTAGCACAAAGTGCTGCACCAGCAGGGAGAAGGAGAGACTGATGTTGGCAGGGGTTCCAGCAGAATTTCTGGGTGCAGGAGGCGCCAGAGCTGGGCTTTGAAAGGTGACAAGCTGGCAGAACCTTTGCTCAAGGGAGGTGGCAGGCAAGAGGGGGTGATGAATGGGGAGCTAGCCCCACACTGGAAATCACAGCTAACCCCTACCCCAAACCTCCAGTCTCATTTGGAAGGCGCTCCTTGATGCATTTTCTTAAGCAAATTAAGAGCTGTGCATTGAGCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGAAGGCCAGAGCAGGTGGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGGCTAACATGATGAAACTGTTTTAGTCTCCACTAAAAACATAAAAATTAGCCGGGTGTGGTGGTGGGTTCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTGCTAGAACCCGGAAGGCGGAGGTTGCAGTGAGCCAAGATGGCGCCACTACACTCCAGCCTGGGTGACAGAGCGGAACTCCATCTCAAACCTCACCCCCCCGCA
GGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACTGCTATATTCCCAACTCCTTGAACAGATCCTGCTGCATAATGGGTGTTGAATGAATGAGTGAGTGAATAATGGAGAAACGGGCCCTGGGCAAATCATTTTCTGGCGGGGCTTCCCAGAGAGGTAGAACAAAACTATCTGACCTCTGGGGTCCTTCGCCCCCTCCAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTATTTAGTGGGGACGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTACCGGGGTATGTGCTGATCAAGGCCCTGACCATGGCTCTGGGGACAGGGACTCTCTACCCAGGAATCTGGCCCATTGTGTGGACACTGGGAGGATGGGATTACCCAATCCCATGGTCAGGGGCTGCCTGCCCAGTGGGTCCCAGCAAGGGGGGTCAAGCCCTCCAGGTGAGCCTTACTCATCAGGCCTTGCTTTTCCAGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATATCTAGTGACCTCAAGGTGAGCAGAATACTTGCCCCTCCTGTGTCCTGGCACTGCACAGGGGCTATGAGCAGAATCCTGCCCCCTGCTCTAGTGGCATCTGCCGCTGACCTGGGAGGCAGGGCTTCTAAAATCCAGTCCAGTCCAACTCAGCTCAGTTCAACCCAATCCAACCGATTCCATTCCGTTCTGAGGTTGTTTATGAAGACCAGCTGCGTTCTAGGCTTGAGGGACACCACAGAATGGCTAGGTTCCTCCCTAGTTCCCAGAACTCTCAGCCTTAGGGGAAGACTGGCCCAGCTGTGACCTTAAGAGCCCAGCCTTGCTCATGCACATCTTTGCTGGGCTGACATCCTCCCAGGGCTCCCCACTGCCTTGCTGCAGGCAGGCTTCTTGGCTTGGCATTCAAGGCTCCAGCCTGCCTGTCTAGCCTCATCCCTGACCAGTGCCACCCTTCCCATGAGCCTGCTGCAGCCCTGAGGCTCTACTGCTTTGCCCGTGTTACCTCGTCCCTCCTCCACGCCTTTGCCTGTGCTGCGCTCTCTACCTGCAACTCCGTACGCTTGCTTTTTTACCCTGAAAGTCTGTTCTGTTTCTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCGCACCCGGTTAATATTTGTATTTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATTCGCCTGGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACCATGCCTAGCCTCTTTTATTTATTTTATTTTATTTTTTTTTTTTTGAGATGAAGTCTCGGTCTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGTTGAGACTACAGGCACCTGCCACCACGCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAAGTGATCCACCCGATTTGTCTTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTTCTCCTGGCCTGTTTCTCTTTCAAATACCGCCTTCAACTATCATCTCTCCCAGCCCTTCCATCAGAGTCATGGTTCCCCAGCATAATGATGTTGGGCCAAACGCGTATCTGTTGCCCCGGCATCTGGAGAACGGAGACTTGCCTCTGTCTCCCTATTCCCTCCCAGCTCAGAGCCTGGCACATACTAGGTGCTCTGTACATGTTTGTTGACTGAATCATGGTGAAATGCAGTGTTTGAGCAGTAGCACAAAGTGCTGCACCAGCAGGGAGAAGGAGAGACTGATGTTGGCAGGGGTTCCAGCAGAATTTCTGGGTGCAGGAGGCGCCAGAGCTGGGCTTTGAAAGGTGACAAGCTGGCAGAACCTTTGCTCAAGGGAGGTGGCAGGCAAGAGGGGGTGATGAATGGGGAGCTAGCCCCACACTGGAAATCACAGCTAACCCCTACCCCAAACCTCCAGTCTCATTTGGAAGGCGCTCCTTGATGCATTTTCTTAAGCAAATTAAGAGCTGTGCATTGAGCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGAAGGCCAGAGCAGGTGGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGGCTAACATGATGAAACTGTTTTAGTCTCCACTAAAAACATAAAAATTAGCCGGGTGTGGTGGTGGGTTCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTGCTAGAACCCGGAAGGCGGAGGTTGCAGTGAGCCAAGATGGCGCCACTACACTCCAGCCTGGGTGACAGAGCGGAACTCCATCTCAAACCTCACCCCCCCGCA
Task1_train_22719
This alteration in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Familial hypokalemia-hypomagnesemia
AAAGTGCCTAGAAGAGTGGAACACATGCTGTGTTCGTGAAGGCTTGTGATCACTGTTAAGAAAATACGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTG
AAAGTGCCTAGAAGAGTGGAACACATGCTGTGTTCGTGAAGGCTTGTGATCACTGTTAAGAAAATACGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGTGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTG
Task1_train_22720
A variant was discovered on Chromosome 16, affecting SLC12A3 (solute carrier family 12 member 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; not provided
AAGTGCCTAGAAGAGTGGAACACATGCTGTGTTCGTGAAGGCTTGTGATCACTGTTAAGAAAATACGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGG
AAGTGCCTAGAAGAGTGGAACACATGCTGTGTTCGTGAAGGCTTGTGATCACTGTTAAGAAAATACGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCCTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGG
Task1_train_22721
The gene SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; not provided
CGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCC
CGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCCGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCC
Task1_train_22722
This mutation occurs in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Familial hypokalemia-hypomagnesemia
GAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCA
GAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTACAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCA
Task1_train_22723
Assess the clinical impact of this variant on gene SLC12A3 (solute carrier family 12 member 3), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Familial hypokalemia-hypomagnesemia
GGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTG
GGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGTACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTG
Task1_train_22724
A genetic alteration is present in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Familial hypokalemia-hypomagnesemia
CTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCC
CTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGGGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCC
Task1_train_22725
This variant lies on Chromosome 16 and affects the gene SLC12A3 (solute carrier family 12 member 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Inborn genetic diseases
AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCA
AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACAGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCA
Task1_train_22726
A mutation on Chromosome 16 affecting SLC12A3 (solute carrier family 12 member 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Familial aortopathy
AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCA
AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACAGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCA
Task1_train_22727
A genetic alteration is present in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Familial hypokalemia-hypomagnesemia
AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCA
AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACAGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCA
Task1_train_22728
Located on Chromosome 16, this mutation impacts SLC12A3 (solute carrier family 12 member 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Familial hypokalemia-hypomagnesemia
GTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCACTATTACCCAAGGTAAGCTTTTCAGACACCAGGCACTACTGGGTCCTGGACCACATGAAGAGGTGGCAGGGATGGAAAAGTCTGGTCAGACTTGATGTTCCCCGGCCCCGTCTCTGCTTCCTGCTCACCGGGGCCCAGAAACACATTTCCCTGCAATGTACCCTGATGCAGATTCGATGTCCTTTCATCTGGGGGGGGGTCTGACTTGACTTCAGACTGAGGACCATGATCTCAGATGCTCCGGGCAGGGTTCTTAGGTGATTACATGAAATCATGGACAGAGGACCTGGCACATTGGTGCACGTCGTGTTTTGGGATCCCCAGAAGCAGGCCCCGAGACAAGGATTAATATGTAAAAGTTTATCTGGGGTGCTGGGGGCAGTAGCAGGGGAGGGGAACAGGGAGACAGGGAAGAGGAAGCAG
GTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTGTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCACTATTACCCAAGGTAAGCTTTTCAGACACCAGGCACTACTGGGTCCTGGACCACATGAAGAGGTGGCAGGGATGGAAAAGTCTGGTCAGACTTGATGTTCCCCGGCCCCGTCTCTGCTTCCTGCTCACCGGGGCCCAGAAACACATTTCCCTGCAATGTACCCTGATGCAGATTCGATGTCCTTTCATCTGGGGGGGGGTCTGACTTGACTTCAGACTGAGGACCATGATCTCAGATGCTCCGGGCAGGGTTCTTAGGTGATTACATGAAATCATGGACAGAGGACCTGGCACATTGGTGCACGTCGTGTTTTGGGATCCCCAGAAGCAGGCCCCGAGACAAGGATTAATATGTAAAAGTTTATCTGGGGTGCTGGGGGCAGTAGCAGGGGAGGGGAACAGGGAGACAGGGAAGAGGAAGCAG
Task1_train_22729
A sequence alteration has been identified in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it disease-inducing or harmless?
Pathogenic; Familial hypokalemia-hypomagnesemia
CTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCACTATTACCCAAGGTAAGCTTTTCAGACACCAGGCACTACTGGGTCCTGGACCACATGAAGAGGTGGCAGGGATGGAAAAGTCTGGTCAGACTTGATGTTCCCCGGCCCCGTCTCTGCTTCCTGCTCACCGGGGCCCAGAAACACATTTCCCTGCAATGTACCCTGATGCAGATTCGATGTCCTTTCATCTGGGGGGGGGTCTGACTTGACTTCAGACTGAGGACCATGATCTCAGATGCTCCGGGCAGGGTTCTTAGGTGATTACATGAAATCATGGACAGAGGACCTGGCACATTGGTGCACGTCGTGTTTTGGGATCCCCAGAAGCAGGCCCCGAGACAAGGATTAATATGTAAAAGTTTATCTGGGGTGCTGGGGGCAGTAGCAGGGGAGGGGAACAGGGAGACAGGGAAGAGGAAGCAGTTCTTGGGTGGGTTACCACTGGGGTACCAGTGGGGTGGAGCTGTGTTACGGTCTTAGGTGTCCTGGGCCACATTGCAAAATGTATTTCTGGCCAGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCAAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAAGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTCCGTCTCAAAAAAAAAAAAAAAGAAAAGTATTTCTTGCTGTCATTTGTGGTCAAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCC
CTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCAGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCACTATTACCCAAGGTAAGCTTTTCAGACACCAGGCACTACTGGGTCCTGGACCACATGAAGAGGTGGCAGGGATGGAAAAGTCTGGTCAGACTTGATGTTCCCCGGCCCCGTCTCTGCTTCCTGCTCACCGGGGCCCAGAAACACATTTCCCTGCAATGTACCCTGATGCAGATTCGATGTCCTTTCATCTGGGGGGGGGTCTGACTTGACTTCAGACTGAGGACCATGATCTCAGATGCTCCGGGCAGGGTTCTTAGGTGATTACATGAAATCATGGACAGAGGACCTGGCACATTGGTGCACGTCGTGTTTTGGGATCCCCAGAAGCAGGCCCCGAGACAAGGATTAATATGTAAAAGTTTATCTGGGGTGCTGGGGGCAGTAGCAGGGGAGGGGAACAGGGAGACAGGGAAGAGGAAGCAGTTCTTGGGTGGGTTACCACTGGGGTACCAGTGGGGTGGAGCTGTGTTACGGTCTTAGGTGTCCTGGGCCACATTGCAAAATGTATTTCTGGCCAGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCAAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAAGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTCCGTCTCAAAAAAAAAAAAAAAGAAAAGTATTTCTTGCTGTCATTTGTGGTCAAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCC
Task1_train_22730
This alteration occurs within gene SLC12A3 (solute carrier family 12 member 3) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
Pathogenic; Familial hypokalemia-hypomagnesemia
GGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCACTATTACCCAAGGTAAGCTTTTCAGACACCAGGCACTACTGGGTCCTGGACCACATGAAGAGGTGGCAGGGATGGAAAAGTCTGGTCAGACTTGATGTTCCCCGGCCCCGTCTCTGCTTCCTGCTCACCGGGGCCCAGAAACACATTTCCCTGCAATGTACCCTGATGCAGATTCGATGTCCTTTCATCTGGGGGGGGGTCTGACTTGACTTCAGACTGAGGACCATGATCTCAGATGCTCCGGGCAGGGTTCTTAGGTGATTACATGAAATCATGGACAGAGGACCTGGCACATTGGTGCACGTCGTGTTTTGGGATCCCCAGAAGCAGGCCCCGAGACAAGGATTAATATGTAAAAGTTTATCTGGGGTGCTGGGGGCAGTAGCAGGGGAGGGGAACAGGGAGACAGGGAAGAGGAAGCAGTTCTTGGGTGGGTTACCACTGGGGTACCAGTGGGGTGGAGCTGTGTTACGGTCTTAGGTGTCCTGGGCCACATTGCAAAATGTATTTCTGGCCAGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCAAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAAGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTCCGTCTCAAAAAAAAAAAAAAAGAAAAGTATTTCTTGCTGTCATTTGTGGTCAAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCCTGTCTGGGGTCCCCCACCCTGGGAAGGAGGGTGCCAAGCCAGTCCTTGGCAGAGTTGCCCAACAGGCTGTCCTCTCTCTCCCTGGGTCCCCGAAGCTGAGCTCAACACCATAGCCCCCATCATTTCCAACTTCTTCCTCTGCTCCTATGCCCTCATCAACTTCAGCTGCTTCCACGCCTCCATCACCAACTCGCCTGGTAAGCAAACCCTTCACCCACCTCAGGAGGAGGCACCCAGGGGGCAGGAGGAACTGGGGCATGGGGTGGGAGTGGGAGGCATGGGTGGAGGTTGGCAGCCCAAGGTCACCTCTCAATTTAAAACCATTGAAAGGGAACATTAATATAATAATAGCAGCTCTCGGCTGGGCTCGGTGGCTCATGCCTGTAATCCTAGCATTTTTGGGAGGCGGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGTGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAACACAAAAATTAGCCAGATGTGGTAGCGGTCACCTGTAATCCAAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGAAAGGGGAGGTTACAGTGAGCAGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAATAATAGTAATAATAATAATGATAATAATAATAGCGGCTCTCCTTTCTCGCGCACTGACAGTGTGCACTTTACATGGATTCATACATTGCTTACCATCTGTAGGGGTTTTCCAGTCTTTTCCTTCCCCAGTTTTACAGGAATCAGGAGCCTGGTTCTTCAGAGAAAGAGAATTGCCCAAAGTCACAGCTAGGGCTGTCACAGACAGTGCTGCAGGTTGCACACTGCATAACTCTAGGAGGCACCATTCATATCATAGATTTCATATATTTGCATGTTTATGATGGAAAACTTCTGGCAGATGGCAATAAAGAGGCTTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGG
GGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCACTATTACCCAAGGTAAGCTTTTCAGACACCAGGCACTACTGGGTCCTGGACCACATGAAGAGGTGGCAGGGATGGAAAAGTCTGGTCAGACTTGATGTTCCCCGGCCCCGTCTCTGCTTCCTGCTCACCGGGGCCCAGAAACACATTTCCCTGCAATGTACCCTGATGCAGATTCGATGTCCTTTCATCTGGGGGGGGGTCTGACTTGACTTCAGACTGAGGACCATGATCTCAGATGCTCCGGGCAGGGTTCTTAGGTGATTACATGAAATCATGGACAGAGGACCTGGCACATTGGTGCACGTCGTGTTTTGGGATCCCCAGAAGCAGGCCCCGAGACAAGGATTAATATGTAAAAGTTTATCTGGGGTGCTGGGGGCAGTAGCAGGGGAGGGGAACAGGGAGACAGGGAAGAGGAAGCAGTTCTTGGGTGGGTTACCACTGGGGTACCAGTGGGGTGGAGCTGTGTTACGGTCTTAGGTGTCCTGGGCCACATTGCAAAATGTATTTCTGGCCAGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCAAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAAGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTCCGTCTCAAAAAAAAAAAAAAAGAAAAGTATTTCTTGCTGTCATTTGTGGTCAAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCCTGTCTGGGGTCCCCCACCCTGGGAAGGAGGGTGCCAAGCCAGTCCTTGGCAGAGTTGCCCAACAGGCTGTCCTCTCTCTCCCTGGGTCCCCGAAGCTGAGCTCAACACCATAGCCCCCATCATTTCCAACTTCTTCCTCTGCTCCTGTGCCCTCATCAACTTCAGCTGCTTCCACGCCTCCATCACCAACTCGCCTGGTAAGCAAACCCTTCACCCACCTCAGGAGGAGGCACCCAGGGGGCAGGAGGAACTGGGGCATGGGGTGGGAGTGGGAGGCATGGGTGGAGGTTGGCAGCCCAAGGTCACCTCTCAATTTAAAACCATTGAAAGGGAACATTAATATAATAATAGCAGCTCTCGGCTGGGCTCGGTGGCTCATGCCTGTAATCCTAGCATTTTTGGGAGGCGGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGTGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAACACAAAAATTAGCCAGATGTGGTAGCGGTCACCTGTAATCCAAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGAAAGGGGAGGTTACAGTGAGCAGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAATAATAGTAATAATAATAATGATAATAATAATAGCGGCTCTCCTTTCTCGCGCACTGACAGTGTGCACTTTACATGGATTCATACATTGCTTACCATCTGTAGGGGTTTTCCAGTCTTTTCCTTCCCCAGTTTTACAGGAATCAGGAGCCTGGTTCTTCAGAGAAAGAGAATTGCCCAAAGTCACAGCTAGGGCTGTCACAGACAGTGCTGCAGGTTGCACACTGCATAACTCTAGGAGGCACCATTCATATCATAGATTTCATATATTTGCATGTTTATGATGGAAAACTTCTGGCAGATGGCAATAAAGAGGCTTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGG
Task1_train_22731
Here is a mutation in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; not provided
GAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCACTATTACCCAAGGTAAGCTTTTCAGACACCAGGCACTACTGGGTCCTGGACCACATGAAGAGGTGGCAGGGATGGAAAAGTCTGGTCAGACTTGATGTTCCCCGGCCCCGTCTCTGCTTCCTGCTCACCGGGGCCCAGAAACACATTTCCCTGCAATGTACCCTGATGCAGATTCGATGTCCTTTCATCTGGGGGGGGGTCTGACTTGACTTCAGACTGAGGACCATGATCTCAGATGCTCCGGGCAGGGTTCTTAGGTGATTACATGAAATCATGGACAGAGGACCTGGCACATTGGTGCACGTCGTGTTTTGGGATCCCCAGAAGCAGGCCCCGAGACAAGGATTAATATGTAAAAGTTTATCTGGGGTGCTGGGGGCAGTAGCAGGGGAGGGGAACAGGGAGACAGGGAAGAGGAAGCAGTTCTTGGGTGGGTTACCACTGGGGTACCAGTGGGGTGGAGCTGTGTTACGGTCTTAGGTGTCCTGGGCCACATTGCAAAATGTATTTCTGGCCAGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCAAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAAGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTCCGTCTCAAAAAAAAAAAAAAAGAAAAGTATTTCTTGCTGTCATTTGTGGTCAAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCCTGTCTGGGGTCCCCCACCCTGGGAAGGAGGGTGCCAAGCCAGTCCTTGGCAGAGTTGCCCAACAGGCTGTCCTCTCTCTCCCTGGGTCCCCGAAGCTGAGCTCAACACCATAGCCCCCATCATTTCCAACTTCTTCCTCTGCTCCTATGCCCTCATCAACTTCAGCTGCTTCCACGCCTCCATCACCAACTCGCCTGGTAAGCAAACCCTTCACCCACCTCAGGAGGAGGCACCCAGGGGGCAGGAGGAACTGGGGCATGGGGTGGGAGTGGGAGGCATGGGTGGAGGTTGGCAGCCCAAGGTCACCTCTCAATTTAAAACCATTGAAAGGGAACATTAATATAATAATAGCAGCTCTCGGCTGGGCTCGGTGGCTCATGCCTGTAATCCTAGCATTTTTGGGAGGCGGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGTGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAACACAAAAATTAGCCAGATGTGGTAGCGGTCACCTGTAATCCAAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGAAAGGGGAGGTTACAGTGAGCAGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAATAATAGTAATAATAATAATGATAATAATAATAGCGGCTCTCCTTTCTCGCGCACTGACAGTGTGCACTTTACATGGATTCATACATTGCTTACCATCTGTAGGGGTTTTCCAGTCTTTTCCTTCCCCAGTTTTACAGGAATCAGGAGCCTGGTTCTTCAGAGAAAGAGAATTGCCCAAAGTCACAGCTAGGGCTGTCACAGACAGTGCTGCAGGTTGCACACTGCATAACTCTAGGAGGCACCATTCATATCATAGATTTCATATATTTGCATGTTTATGATGGAAAACTTCTGGCAGATGGCAATAAAGAGGCTTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGG
GAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCACTATTACCCAAGGTAAGCTTTTCAGACACCAGGCACTACTGGGTCCTGGACCACATGAAGAGGTGGCAGGGATGGAAAAGTCTGGTCAGACTTGATGTTCCCCGGCCCCGTCTCTGCTTCCTGCTCACCGGGGCCCAGAAACACATTTCCCTGCAATGTACCCTGATGCAGATTCGATGTCCTTTCATCTGGGGGGGGGTCTGACTTGACTTCAGACTGAGGACCATGATCTCAGATGCTCCGGGCAGGGTTCTTAGGTGATTACATGAAATCATGGACAGAGGACCTGGCACATTGGTGCACGTCGTGTTTTGGGATCCCCAGAAGCAGGCCCCGAGACAAGGATTAATATGTAAAAGTTTATCTGGGGTGCTGGGGGCAGTAGCAGGGGAGGGGAACAGGGAGACAGGGAAGAGGAAGCAGTTCTTGGGTGGGTTACCACTGGGGTACCAGTGGGGTGGAGCTGTGTTACGGTCTTAGGTGTCCTGGGCCACATTGCAAAATGTATTTCTGGCCAGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCAAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAAGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTCCGTCTCAAAAAAAAAAAAAAAGAAAAGTATTTCTTGCTGTCATTTGTGGTCAAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCCTGTCTGGGGTCCCCCACCCTGGGAAGGAGGGTGCCAAGCCAGTCCTTGGCAGAGTTGCCCAACAGGCTGTCCTCTCTCTCCCTGGGTCCCCGAAGCTGAGCTCAACACCATAGCCCCCATCATTTCCAACTTCTTCCTCTGCTCCTATGCCCTCATCAACTTCGGCTGCTTCCACGCCTCCATCACCAACTCGCCTGGTAAGCAAACCCTTCACCCACCTCAGGAGGAGGCACCCAGGGGGCAGGAGGAACTGGGGCATGGGGTGGGAGTGGGAGGCATGGGTGGAGGTTGGCAGCCCAAGGTCACCTCTCAATTTAAAACCATTGAAAGGGAACATTAATATAATAATAGCAGCTCTCGGCTGGGCTCGGTGGCTCATGCCTGTAATCCTAGCATTTTTGGGAGGCGGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGTGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAACACAAAAATTAGCCAGATGTGGTAGCGGTCACCTGTAATCCAAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGAAAGGGGAGGTTACAGTGAGCAGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAATAATAGTAATAATAATAATGATAATAATAATAGCGGCTCTCCTTTCTCGCGCACTGACAGTGTGCACTTTACATGGATTCATACATTGCTTACCATCTGTAGGGGTTTTCCAGTCTTTTCCTTCCCCAGTTTTACAGGAATCAGGAGCCTGGTTCTTCAGAGAAAGAGAATTGCCCAAAGTCACAGCTAGGGCTGTCACAGACAGTGCTGCAGGTTGCACACTGCATAACTCTAGGAGGCACCATTCATATCATAGATTTCATATATTTGCATGTTTATGATGGAAAACTTCTGGCAGATGGCAATAAAGAGGCTTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGG
Task1_train_22732
Given this variant in gene SLC12A3 (solute carrier family 12 member 3) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Familial hypokalemia-hypomagnesemia
AAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCCTGTCTGGGGTCCCCCACCCTGGGAAGGAGGGTGCCAAGCCAGTCCTTGGCAGAGTTGCCCAACAGGCTGTCCTCTCTCTCCCTGGGTCCCCGAAGCTGAGCTCAACACCATAGCCCCCATCATTTCCAACTTCTTCCTCTGCTCCTATGCCCTCATCAACTTCAGCTGCTTCCACGCCTCCATCACCAACTCGCCTGGTAAGCAAACCCTTCACCCACCTCAGGAGGAGGCACCCAGGGGGCAGGAGGAACTGGGGCATGGGGTGGGAGTGGGAGGCATGGGTGGAGGTTGGCAGCCCAAGGTCACCTCTCAATTTAAAACCATTGAAAGGGAACATTAATATAATAATAGCAGCTCTCGGCTGGGCTCGGTGGCTCATGCCTGTAATCCTAGCATTTTTGGGAGGCGGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGTGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAACACAAAAATTAGCCAGATGTGGTAGCGGTCACCTGTAATCCAAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGAAAGGGGAGGTTACAGTGAGCAGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAATAATAGTAATAATAATAATGATAATAATAATAGCGGCTCTCCTTTCTCGCGCACTGACAGTGTGCACTTTACATGGATTCATACATTGCTTACCATCTGTAGGGGTTTTCCAGTCTTTTCCTTCCCCAGTTTTACAGGAATCAGGAGCCTGGTTCTTCAGAGAAAGAGAATTGCCCAAAGTCACAGCTAGGGCTGTCACAGACAGTGCTGCAGGTTGCACACTGCATAACTCTAGGAGGCACCATTCATATCATAGATTTCATATATTTGCATGTTTATGATGGAAAACTTCTGGCAGATGGCAATAAAGAGGCTTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGC
AAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCCTGTCTGGGGTCCCCCACCCTGGGAAGGAGGGTGCCAAGCCAGTCCTTGGCAGAGTTGCCCAACAGGCTGTCCTCTCTCTCCCTGGGTCCCCGAAGCTGAGCTCAACACCATAGCCCCCATCATTTCCAACTTCTTCCTCTGCTCCTATGCCCTCATCAACTTCAGCTGCTTCCACGCCTCCATCACCAACTCGCCTGGTAAGCAAACCCTTCACCCACCTCAGGAGGAGGCACCCAGGGGGCAGGAGGAACTGGGGCATGGGGTGGGAGTGGGAGGCATGGGTGGAGGTTGGCAGCCCAAGGTCACCTCTCAATTTAAAACCATTGAAAGGGAACATTAATATAATAATAGCAGCTCTCGGCTGGGCTCGGTGGCTCATGCCTGTAATCCTAGCATTTTTGGGAGGCGGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGTGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAACACAAAAATTAGCCAGATGTGGTAGCGGTCACCTGTAATCCAAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGAAAGGGGAGGTTACAGTGAGCAGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAATAATAGTAATAATAATAATGATAATAATAATAGCGGCTCTCCTTTCTCGCGCACTGACAGTGTGCACTTTACATGGATTCATACATTGCTTACCATCTGTAGGGGTTTTCCAGTCTTTTCCTTCCCCAGTTTTACAGGAATCAGGAGCCTGGTTCTTCAGAGAAAGAGAATTGCCCAAAGTCACAGCTAGGGCTGTCACAGACAGTGCTGCAGGTTGCACACTGCATAACTCTAGGAGGCACCATTCATATCATAGATTTCATATATTTGCATGTTTATGATGGAAAACTTCTGGCAGATGGCAATAAAGAGGCTTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGTGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGC
Task1_train_22733
Consider a variant on Chromosome 16 in gene SLC12A3 (solute carrier family 12 member 3). Determine its clinical classification and disease relevance.
Pathogenic; Familial hypokalemia-hypomagnesemia
TTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCA
TTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCCGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCA
Task1_train_22734
Gene SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Familial hypokalemia-hypomagnesemia
TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTT
TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGTCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTT
Task1_train_22735
The gene SLC12A3 (solute carrier family 12 member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Familial hypokalemia-hypomagnesemia
CTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGT
CTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACTGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGT
Task1_train_22736
The gene SLC12A3 (solute carrier family 12 member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Familial hypokalemia-hypomagnesemia
TGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTT
TGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCAGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTT
Task1_train_22737
This gene mutation involves SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; Familial hypokalemia-hypomagnesemia
CACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCTATCTCAGCCCCCCAGAGTGCTCGGTTTACAGGCATGAGCCACCATGCCTGGCCAGAGCCCCAACTTTCTTATGTCTCCAGATGTGCTGGTTCTGGGCACTTTCTCGGAATGCCCAGGACCTGGGAAACTGACTTGGAAGCCTGTGGGGGCTTGTGTCACCTTGGCCAATTCTAACTCTTGGGGGCACTGGGAGGGATGTAGGGTGTTGGTGACCAAGCGAGAACTAGAATCGAGGATTCTGGAATTCAGATATTTCCTCCCATCAGTCATCTTTCTCCCAATAAAGTTTTGTTTTGTGCAAAACAAAAATTTTTAAGATTATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGAGAATCAGCACATCTGGAGACATCAGAAAGTTGGGGCTCTGGCCAGGTGGATCACCAACTCTGCCCCTCTGATGGGTTCCCCATCTCACCCCTATCCCCTGGCAGGCCGCAGGTCTCGGGAGAATGAAGCCCAACATTCTGGTGGTTGGGTTCAAGAAGAACTGGCAGTCGGCTCACCCGGCCACAGTGGAAGACTACATTGGCATCCTCCAGTGAGTCGGGGGAGAGGAAGGGGCTTGGGGTCTGTTAATTTGGGCCCATTGGGCCTTGAGAAGTGGAAAAGAAGTAGTGGGTGCTTAAAAAGTTGAGTCCTGCTGGGCAAAGTGGCTGGCATCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAGCTCACTTGAGCCCAGGAGTTGAAGGCTGCAGTGAGCAAAGATTGCACTGCTGCACTCCAGCCTAGGCGAAAGAGCAAGACCCCATCTTTGAAAAAGAAGTTGAGTCCATTTTCTCAAAGCTAAAGAAGAAACACGCTGAGGCTGAAGATGCCCGTCTCTGACCTGTGAGTCATGGACACCAAAGCCAGCTGGGGCCAGGCAGGTAGCACCATGAGTGAAGTGGGCCAGGCCAGGGGTGATAGGGAGCAGTGGAGACTGTGGCAACCCAGAGAGAGTGGCTCCTACTTGGCTCGTGTCCATGCAGAATGGGCTCTAGTGCCCGTG
CACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACATGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCTATCTCAGCCCCCCAGAGTGCTCGGTTTACAGGCATGAGCCACCATGCCTGGCCAGAGCCCCAACTTTCTTATGTCTCCAGATGTGCTGGTTCTGGGCACTTTCTCGGAATGCCCAGGACCTGGGAAACTGACTTGGAAGCCTGTGGGGGCTTGTGTCACCTTGGCCAATTCTAACTCTTGGGGGCACTGGGAGGGATGTAGGGTGTTGGTGACCAAGCGAGAACTAGAATCGAGGATTCTGGAATTCAGATATTTCCTCCCATCAGTCATCTTTCTCCCAATAAAGTTTTGTTTTGTGCAAAACAAAAATTTTTAAGATTATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGAGAATCAGCACATCTGGAGACATCAGAAAGTTGGGGCTCTGGCCAGGTGGATCACCAACTCTGCCCCTCTGATGGGTTCCCCATCTCACCCCTATCCCCTGGCAGGCCGCAGGTCTCGGGAGAATGAAGCCCAACATTCTGGTGGTTGGGTTCAAGAAGAACTGGCAGTCGGCTCACCCGGCCACAGTGGAAGACTACATTGGCATCCTCCAGTGAGTCGGGGGAGAGGAAGGGGCTTGGGGTCTGTTAATTTGGGCCCATTGGGCCTTGAGAAGTGGAAAAGAAGTAGTGGGTGCTTAAAAAGTTGAGTCCTGCTGGGCAAAGTGGCTGGCATCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAGCTCACTTGAGCCCAGGAGTTGAAGGCTGCAGTGAGCAAAGATTGCACTGCTGCACTCCAGCCTAGGCGAAAGAGCAAGACCCCATCTTTGAAAAAGAAGTTGAGTCCATTTTCTCAAAGCTAAAGAAGAAACACGCTGAGGCTGAAGATGCCCGTCTCTGACCTGTGAGTCATGGACACCAAAGCCAGCTGGGGCCAGGCAGGTAGCACCATGAGTGAAGTGGGCCAGGCCAGGGGTGATAGGGAGCAGTGGAGACTGTGGCAACCCAGAGAGAGTGGCTCCTACTTGGCTCGTGTCCATGCAGAATGGGCTCTAGTGCCCGTG
Task1_train_22738
A mutation found in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Familial hypokalemia-hypomagnesemia
ACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCTATCTCAGCCCCCCAGAGTGCTCGGTTTACAGGCATGAGCCACCATGCCTGGCCAGAGCCCCAACTTTCTTATGTCTCCAGATGTGCTGGTTCTGGGCACTTTCTCGGAATGCCCAGGACCTGGGAAACTGACTTGGAAGCCTGTGGGGGCTTGTGTCACCTTGGCCAATTCTAACTCTTGGGGGCACTGGGAGGGATGTAGGGTGTTGGTGACCAAGCGAGAACTAGAATCGAGGATTCTGGAATTCAGATATTTCCTCCCATCAGTCATCTTTCTCCCAATAAAGTTTTGTTTTGTGCAAAACAAAAATTTTTAAGATTATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGAGAATCAGCACATCTGGAGACATCAGAAAGTTGGGGCTCTGGCCAGGTGGATCACCAACTCTGCCCCTCTGATGGGTTCCCCATCTCACCCCTATCCCCTGGCAGGCCGCAGGTCTCGGGAGAATGAAGCCCAACATTCTGGTGGTTGGGTTCAAGAAGAACTGGCAGTCGGCTCACCCGGCCACAGTGGAAGACTACATTGGCATCCTCCAGTGAGTCGGGGGAGAGGAAGGGGCTTGGGGTCTGTTAATTTGGGCCCATTGGGCCTTGAGAAGTGGAAAAGAAGTAGTGGGTGCTTAAAAAGTTGAGTCCTGCTGGGCAAAGTGGCTGGCATCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAGCTCACTTGAGCCCAGGAGTTGAAGGCTGCAGTGAGCAAAGATTGCACTGCTGCACTCCAGCCTAGGCGAAAGAGCAAGACCCCATCTTTGAAAAAGAAGTTGAGTCCATTTTCTCAAAGCTAAAGAAGAAACACGCTGAGGCTGAAGATGCCCGTCTCTGACCTGTGAGTCATGGACACCAAAGCCAGCTGGGGCCAGGCAGGTAGCACCATGAGTGAAGTGGGCCAGGCCAGGGGTGATAGGGAGCAGTGGAGACTGTGGCAACCCAGAGAGAGTGGCTCCTACTTGGCTCGTGTCCATGCAGAATGGGCTCTAGTGCCCGTGCAGAAATGTGGGCCCAATGTTGCCAGATCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACACTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGTGCCCGGCCACCAGATCTTTTAATTTTTCAGAGTAACTGCAAATGTGAGTTTTTAGGTGAGAACCTCATGCCTCCCTGTGGGCTCCAGAAGGTGCACAGGGAACCAGCTCAAGAGCTCTGAGGCGGTGCCCCTGAACAGGGAAGTGAAACCAGGACCTGAGGACGGAACTCCCTGGGGACTTCAGGGCTGACTCCAAACTCTTCATCAGTGCTTGCTGTGTGATGTCCAGAGATGCCTCCCTCAGTGGCTTTTCTGTGTTGATGTTGTTGTGTGAGGTATCACTGAACAACATGAGGCTGAGGGTTGGGGCCCTGAGACCTGCTTCCAGGTATGCTGTTAACCAGCTGTAGGACTCGGAGCAATCCTCTCAGCAGGTGCTAACAGAATTACAGCAGCAACTGATAGAATACCTGATCTCCAGCCTCCCTCCAGCTCCAACATTCCAAACCTTCAAAAAGCAGGGCCTGAAAGTTCCTTGTCCTGGAGATATGTGATCTAAGGAGCCCAGGGAGGGCAGTGCGCAGCCCATTGGCCCAAACCCCAGTGGTGGGCGGGCTCTTGGGCACTGTGTCAATCAGGCAGTACATACACCTTTGGAACAAGAGTCTTCCAGACATCTTTAATTATTTTATTTTATTTATTTTTGAGACAGAGTCTTGTTCTGTCGCCCCGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCCTCAGTCTCCCAAGTAGCTGTGATTACAGGTGCCCACCACCACGCCCGGCTAATTTTTGTACGTTTTAGTAGAAATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCGTAAACCACTGCGCCCGGCCTCCAGACATCTTTATAGACAGCCTATTGCAGGAGTAAAGCTCCTCTCATGAGCATGTCTGTCCTTTGGTCCACAGTCTCAGCCATGTGATTCTAATCCCAGCTGCTCACTCCCTTAGCTGTGTGACCATGGGCAAGTTACTCTCCAAAACTCAGTTTTTGCATCCATAGAATGGAGGGAATAATTACCATCCCCACCTCCATGGGCAGAG
ACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCTATCTCAGCCCCCCAGAGTGCTCGGTTTACAGGCATGAGCCACCATGCCTGGCCAGAGCCCCAACTTTCTTATGTCTCCAGATGTGCTGGTTCTGGGCACTTTCTCGGAATGCCCAGGACCTGGGAAACTGACTTGGAAGCCTGTGGGGGCTTGTGTCACCTTGGCCAATTCTAACTCTTGGGGGCACTGGGAGGGATGTAGGGTGTTGGTGACCAAGCGAGAACTAGAATCGAGGATTCTGGAATTCAGATATTTCCTCCCATCAGTCATCTTTCTCCCAATAAAGTTTTGTTTTGTGCAAAACAAAAATTTTTAAGATTATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGAGAATCAGCACATCTGGAGACATCAGAAAGTTGGGGCTCTGGCCAGGTGGATCACCAACTCTGCCCCTCTGATGGGTTCCCCATCTCACCCCTATCCCCTGGCAGGCCGCAGGTCTCAGGAGAATGAAGCCCAACATTCTGGTGGTTGGGTTCAAGAAGAACTGGCAGTCGGCTCACCCGGCCACAGTGGAAGACTACATTGGCATCCTCCAGTGAGTCGGGGGAGAGGAAGGGGCTTGGGGTCTGTTAATTTGGGCCCATTGGGCCTTGAGAAGTGGAAAAGAAGTAGTGGGTGCTTAAAAAGTTGAGTCCTGCTGGGCAAAGTGGCTGGCATCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAGCTCACTTGAGCCCAGGAGTTGAAGGCTGCAGTGAGCAAAGATTGCACTGCTGCACTCCAGCCTAGGCGAAAGAGCAAGACCCCATCTTTGAAAAAGAAGTTGAGTCCATTTTCTCAAAGCTAAAGAAGAAACACGCTGAGGCTGAAGATGCCCGTCTCTGACCTGTGAGTCATGGACACCAAAGCCAGCTGGGGCCAGGCAGGTAGCACCATGAGTGAAGTGGGCCAGGCCAGGGGTGATAGGGAGCAGTGGAGACTGTGGCAACCCAGAGAGAGTGGCTCCTACTTGGCTCGTGTCCATGCAGAATGGGCTCTAGTGCCCGTGCAGAAATGTGGGCCCAATGTTGCCAGATCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACACTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGTGCCCGGCCACCAGATCTTTTAATTTTTCAGAGTAACTGCAAATGTGAGTTTTTAGGTGAGAACCTCATGCCTCCCTGTGGGCTCCAGAAGGTGCACAGGGAACCAGCTCAAGAGCTCTGAGGCGGTGCCCCTGAACAGGGAAGTGAAACCAGGACCTGAGGACGGAACTCCCTGGGGACTTCAGGGCTGACTCCAAACTCTTCATCAGTGCTTGCTGTGTGATGTCCAGAGATGCCTCCCTCAGTGGCTTTTCTGTGTTGATGTTGTTGTGTGAGGTATCACTGAACAACATGAGGCTGAGGGTTGGGGCCCTGAGACCTGCTTCCAGGTATGCTGTTAACCAGCTGTAGGACTCGGAGCAATCCTCTCAGCAGGTGCTAACAGAATTACAGCAGCAACTGATAGAATACCTGATCTCCAGCCTCCCTCCAGCTCCAACATTCCAAACCTTCAAAAAGCAGGGCCTGAAAGTTCCTTGTCCTGGAGATATGTGATCTAAGGAGCCCAGGGAGGGCAGTGCGCAGCCCATTGGCCCAAACCCCAGTGGTGGGCGGGCTCTTGGGCACTGTGTCAATCAGGCAGTACATACACCTTTGGAACAAGAGTCTTCCAGACATCTTTAATTATTTTATTTTATTTATTTTTGAGACAGAGTCTTGTTCTGTCGCCCCGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCCTCAGTCTCCCAAGTAGCTGTGATTACAGGTGCCCACCACCACGCCCGGCTAATTTTTGTACGTTTTAGTAGAAATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCGTAAACCACTGCGCCCGGCCTCCAGACATCTTTATAGACAGCCTATTGCAGGAGTAAAGCTCCTCTCATGAGCATGTCTGTCCTTTGGTCCACAGTCTCAGCCATGTGATTCTAATCCCAGCTGCTCACTCCCTTAGCTGTGTGACCATGGGCAAGTTACTCTCCAAAACTCAGTTTTTGCATCCATAGAATGGAGGGAATAATTACCATCCCCACCTCCATGGGCAGAG
Task1_train_22739
An alteration has been detected in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
Pathogenic; not provided
AAAAAAAAAAAAAGATGTAATAGAAAACCAGGAAAGAGGGGAGAGGAAAATGCCTGCAGGAAGATGCCAGAATATGAAAATACATAATGACCATGGGAACCGGGCATTTTGGTCCACTGAGTAGGGATGTGTTTTGCATTTTAAAGTCATATATGACTGCAGACTCTGAATTAGAAATATTTAGAGAGGCTGGGTGTGGTGGCTCGTTTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCGCTTGAGTCTAGGAGTTCAACACCAGCCTGGGTAACATAGCAAGACCCCATCTCTACTAAAACAAAAAATTAACCAGGTGTGGTGGCACGTGTCTGGAGTCTCAGCTACTTGGGAAGCTGAGATGGGAGGATCGCTTGAGGCCAGGAGTTTGAGGCTGCAGTGAGCCGTGATTGCACCACTGCACTCCAGCCTGGCTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGGAAATATCTAGAGGTGTGAAAGCAATAACGTGTATGGCAACAAATGAGAGGCAGTGCTGGAGAGACTGGGAGCTTGGAGTCCGCGTCTCTTGCAGCCAGGAGCTGGGTCCGTTCATTTGTGCCATTGCTGAGGGCATGTCTGGCACACGGATGCCACCAATATTTACAGAGCAGTAACTCCACTCCTGACCAACGCTGCTCTTGGTGCTGGGGTTACAGGCACACCAAAAGCCAAAAAGCCTCTGCTCTTGAGAAGCTGACGCTCCAGAGGGAAAAGCAGACACTTGCCAGTGGACCCATAAGTTATTTCAGATTGTGAGAGTGTCTGGAGAAAACGGGTGCAGGGCGTAGTGGCCAGGGAAGGCCTCCCTCAGGAGGGGGCCTTTTGCTGAGGAGGCCAGGGCTAGGGGAAGTATGTTCCAGCTCAGGGCGCACCCACCGCCACGGCCCAAGGTGGGGATGAACGTGGCCTGTTTGAGGGGCAAGAGGAGGCCATGCGCGACTGGAATGTGAGGAGCCGGGCAGGAGGCAGGTCAGAGGGAGGCCAAGGCCAGGTGCAGTGGGGCTGTGGAGGCCAGGTGGGGCATCGGGACTTTCTTCCTAGCATTAAGGGAGCCCTGTCAAGGAGGAACCCACGGTGCCCTCAGACAAGGAGAGCCTGTGAACAAAGCTGCCTCTTCTTTTGCAGTTAACCCCGTGTTTGACCCAGCGGAGGACGGGAAGGAAGCCAGCGCCAGAGGTGCCAGGCCATCAGTCTCTGGCGCTTGTCAGTGTTCCCACTCAGAGCTCAGGGCACTCTAGCCCTGTGGGGTGGCTAGGGGTGGGCCACTTGGGAACTTGGTCGAGGACAGGTGGTTTTTTCTTGTGACGGTGGTGCCTGAGTAACTGGAGTTGGGAACTGGAGGGGCTTGGCCGTGTCAAAGATTGCCAGCAGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTGTGGGAGGCTGAGGCAGGAGTTCCAGGCTGCAGTGAGCTGTGACCGCACCACTACATTGCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAATATTGCCAGGAGGTGGAGAATTCAGGGTCACGGCATCATGGGGACCCACCTAGCAGGCTCTGGGGCCCTTGTCCCACCCCTGCCAAGGCCCCTCTAGCCATGCAGGGTGGGGTGGGATTTTCCTTCGTCCTCTCCCACCATCACTCCGGGAGACAGGGGGCCTGAAGTGCAGGCGGGAGGGCTGCTGTGGGCATTTGTGAAGGGTGCAGGAGGTGTTTAAGGGAATGGAGAGTGCACTTCCCTACCTACCCAGAGGGCTCTGGGACTGCCCCCACCCCCAGTACTCACCAGAATCCCGGGAGAGAGAAGCTGAAAGCAGGGCAGGGGCACATCACAGCACTGAGCGTCCTGGGCCCCGGTTCCTGTTCCACCTGCCAGAGAACCCGTGTTCAACATCAGAAGGGGCGTTGGCGGGGCCCTGGGCCAGGCCTGCCTGGATGCGCGGCTGCTGGCTCTGCTCTGACCCGCCCCCACCTCCTGCAGTGGACCCCAAGGCCCTGGTGAAGGAGGAGCAGGCCACCACCATCTTCCAGTCGGAGCAGGGCAAGAAGACCATAGACATCTACTGGCTCTTTGACGATGGAGGTCAGTGACCCCCTTGGATCAGCCCTCCTGCCCGGCGGGGGCGGGGTGGTGGTGGTCTTCCTTCCTTCTCCTTCCTGGCCTGCTCTCAAAGGGGACAGGGGCTCCTGGGCCCAGCAGTGAGCTCAGGGGAGCCCAGAGGGACCCCTCTGTCTGGCCTCTAGTTTTTTGGTTATAAAATGGGAAGCTTTGAGAGAAGAGCTGAAGTCGCCATGAGATGGAAACTTCTGACTGGATGGCCCTTAGGGGCACAGGCAGGTGATATAAATGGGGAGATGGGCGGTGCCCAGGAAAGCTGGAGGAATATTTTTCACTTCACAATGAAATATAACCTCTCCCATTAAAAAACAAAAAAAGTGACTTTAAGCTTTATTGCTCCTACCTTTGATAGAGTCACAGATAGAAAGAAAATGTCTTCGCTCCAATGGAACGAGTCCTATTAATAACTGCCAAAATAGGCTGAGCACTTACTACCTGGCTGACAGGGAATTCCCTACCTAATCCAGTCCCCAGGTAGGAGCTGTCATGATTAACTCCGCTTTATAAATAAGGAAAATGAGGCACAGAGGATTACAAGGTGATATGTGACAGCTGGCCCTTGGTCTTGTGTGGAGAGACAACAGAGAGGGATGAGGGCTCCCACACGCTGGTCAAATATTCACTCTTCAAGAACTGCCAATGACCTCGATTTTTATGTGAAACTCCTCAATTATTAAATGACTTTTGTTTTTTATTATTCTTTTTGAGACGGAGTCTTACTTTGTCGCCCAGGCTGAAGTGCAGTGGCATGATGTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGGCTGCCACCACACCCAGCTAATTTTTGTATTTTTATTTTTATTTTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGAGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGTGCACCATCAGGCCCAGCTAATTTTTTGTGTTATTAGTAGAGATAGGGTTTTACCATGTTGGCCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCATAGTGCTGGGATTATAGGCATGAGCCATGGCGCCCGGCCGCCAGCTTGTTTATTTAAATATGCTGCACAAGCACAAATAAACCCTACCCCACAGAGCACCGTGTGCGACTTGAATTCAGTCAGCCATGTTCATTATACAGATGGGTCGACTGGGGTCCAGCGAGGAGAGGAAGGGGTTTGCTAATGGCAGAGCGGGGCAGGAACTCACATAGTGCTCTGTCCTGAGTGTATTCTTGTCATGACTCACGGGGACTCTCCTTGCCAGGCCTCACCCTCCTCATTCCCTATCTCCTTGGCCGCAAGAGGAGGTGGAGCAAATGCAAGATCCGTGTGTTCGTAGGCGGCCAGATTAACAGGATGGACCAGGAGAGAAAGGCGTAAGTGTGGAGGGCTGGCCTGGGGGTGACTGCAGGGACCAGTGTCATCTTAGCTCCACCCAAGGCTGTCCCCTACCCTAGATCCTCTACCACCACCCCCAGGTGGGCACTGAGATTGTCCCAAAGCCCAGGGCCAGCTCTCTCCAGGCCATGGCAGTGGGCAGGAGCAGGAGCAGGTTTCTCTCCATTCCAGAAGTTGTTCTGGTTTCCTGCCCCCTTCAATAAATGCAGATGCCCTAGGCTTTGCTACGACAGGGAGGGGAGTTAGGTTGTAAAGTCACAAATCTCTGGGTTTGGATAACAAGAAGCATAAAAATAAGAAAGAAAAGGAATCCATTTTTTAAATTTAAAGTTAAGA
AAAAAAAAAAAAAGATGTAATAGAAAACCAGGAAAGAGGGGAGAGGAAAATGCCTGCAGGAAGATGCCAGAATATGAAAATACATAATGACCATGGGAACCGGGCATTTTGGTCCACTGAGTAGGGATGTGTTTTGCATTTTAAAGTCATATATGACTGCAGACTCTGAATTAGAAATATTTAGAGAGGCTGGGTGTGGTGGCTCGTTTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCGCTTGAGTCTAGGAGTTCAACACCAGCCTGGGTAACATAGCAAGACCCCATCTCTACTAAAACAAAAAATTAACCAGGTGTGGTGGCACGTGTCTGGAGTCTCAGCTACTTGGGAAGCTGAGATGGGAGGATCGCTTGAGGCCAGGAGTTTGAGGCTGCAGTGAGCCGTGATTGCACCACTGCACTCCAGCCTGGCTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGGAAATATCTAGAGGTGTGAAAGCAATAACGTGTATGGCAACAAATGAGAGGCAGTGCTGGAGAGACTGGGAGCTTGGAGTCCGCGTCTCTTGCAGCCAGGAGCTGGGTCCGTTCATTTGTGCCATTGCTGAGGGCATGTCTGGCACACGGATGCCACCAATATTTACAGAGCAGTAACTCCACTCCTGACCAACGCTGCTCTTGGTGCTGGGGTTACAGGCACACCAAAAGCCAAAAAGCCTCTGCTCTTGAGAAGCTGACGCTCCAGAGGGAAAAGCAGACACTTGCCAGTGGACCCATAAGTTATTTCAGATTGTGAGAGTGTCTGGAGAAAACGGGTGCAGGGCGTAGTGGCCAGGGAAGGCCTCCCTCAGGAGGGGGCCTTTTGCTGAGGAGGCCAGGGCTAGGGGAAGTATGTTCCAGCTCAGGGCGCACCCACCGCCACGGCCCAAGGTGGGGATGAACGTGGCCTGTTTGAGGGGCAAGAGGAGGCCATGCGCGACTGGAATGTGAGGAGCCGGGCAGGAGGCAGGTCAGAGGGAGGCCAAGGCCAGGTGCAGTGGGGCTGTGGAGGCCAGGTGGGGCATCGGGACTTTCTTCCTAGCATTAAGGGAGCCCTGTCAAGGAGGAACCCACGGTGCCCTCAGACAAGGAGAGCCTGTGAACAAAGCTGCCTCTTCTTTTGCAGTTAACCCCGTGTTTGACCCAGCGGAGGACGGGAAGGAAGCCAGCGCCAGAGGTGCCAGGCCATCAGTCTCTGGCGCTTGTCAGTGTTCCCACTCAGAGCTCAGGGCACTCTAGCCCTGTGGGGTGGCTAGGGGTGGGCCACTTGGGAACTTGGTCGAGGACAGGTGGTTTTTTCTTGTGACGGTGGTGCCTGAGTAACTGGAGTTGGGAACTGGAGGGGCTTGGCCGTGTCAAAGATTGCCAGCAGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTGTGGGAGGCTGAGGCAGGAGTTCCAGGCTGCAGTGAGCTGTGACCGCACCACTACATTGCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAATATTGCCAGGAGGTGGAGAATTCAGGGTCACGGCATCATGGGGACCCACCTAGCAGGCTCTGGGGCCCTTGTCCCACCCCTGCCAAGGCCCCTCTAGCCATGCAGGGTGGGGTGGGATTTTCCTTCGTCCTCTCCCACCATCACTCCGGGAGACAGGGGGCCTGAAGTGCAGGCGGGAGGGCTGCTGTGGGCATTTGTGAAGGGTGCAGGAGGTGTTTAAGGGAATGGAGAGTGCACTTCCCTACCTACCCAGAGGGCTCTGGGACTGCCCCCACCCCCAGTACTCACCAGAATCCCGGGAGAGAGAAGCTGAAAGCAGGGCAGGGGCACATCACAGCACTGAGCGTCCTGGGCCCCGGTTCCTGTTCCACCTGCCAGAGAACCCGTGTTCAACATCAGAAGGGGCGTTGGCGGGGCCCTGGGCCAGGCCTGCCTGGATGCGCGGCTGCTGGCTCTGCTCTGACCCGCCCCCACCTCCTGCAGAGGACCCCAAGGCCCTGGTGAAGGAGGAGCAGGCCACCACCATCTTCCAGTCGGAGCAGGGCAAGAAGACCATAGACATCTACTGGCTCTTTGACGATGGAGGTCAGTGACCCCCTTGGATCAGCCCTCCTGCCCGGCGGGGGCGGGGTGGTGGTGGTCTTCCTTCCTTCTCCTTCCTGGCCTGCTCTCAAAGGGGACAGGGGCTCCTGGGCCCAGCAGTGAGCTCAGGGGAGCCCAGAGGGACCCCTCTGTCTGGCCTCTAGTTTTTTGGTTATAAAATGGGAAGCTTTGAGAGAAGAGCTGAAGTCGCCATGAGATGGAAACTTCTGACTGGATGGCCCTTAGGGGCACAGGCAGGTGATATAAATGGGGAGATGGGCGGTGCCCAGGAAAGCTGGAGGAATATTTTTCACTTCACAATGAAATATAACCTCTCCCATTAAAAAACAAAAAAAGTGACTTTAAGCTTTATTGCTCCTACCTTTGATAGAGTCACAGATAGAAAGAAAATGTCTTCGCTCCAATGGAACGAGTCCTATTAATAACTGCCAAAATAGGCTGAGCACTTACTACCTGGCTGACAGGGAATTCCCTACCTAATCCAGTCCCCAGGTAGGAGCTGTCATGATTAACTCCGCTTTATAAATAAGGAAAATGAGGCACAGAGGATTACAAGGTGATATGTGACAGCTGGCCCTTGGTCTTGTGTGGAGAGACAACAGAGAGGGATGAGGGCTCCCACACGCTGGTCAAATATTCACTCTTCAAGAACTGCCAATGACCTCGATTTTTATGTGAAACTCCTCAATTATTAAATGACTTTTGTTTTTTATTATTCTTTTTGAGACGGAGTCTTACTTTGTCGCCCAGGCTGAAGTGCAGTGGCATGATGTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGGCTGCCACCACACCCAGCTAATTTTTGTATTTTTATTTTTATTTTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGAGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGTGCACCATCAGGCCCAGCTAATTTTTTGTGTTATTAGTAGAGATAGGGTTTTACCATGTTGGCCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCATAGTGCTGGGATTATAGGCATGAGCCATGGCGCCCGGCCGCCAGCTTGTTTATTTAAATATGCTGCACAAGCACAAATAAACCCTACCCCACAGAGCACCGTGTGCGACTTGAATTCAGTCAGCCATGTTCATTATACAGATGGGTCGACTGGGGTCCAGCGAGGAGAGGAAGGGGTTTGCTAATGGCAGAGCGGGGCAGGAACTCACATAGTGCTCTGTCCTGAGTGTATTCTTGTCATGACTCACGGGGACTCTCCTTGCCAGGCCTCACCCTCCTCATTCCCTATCTCCTTGGCCGCAAGAGGAGGTGGAGCAAATGCAAGATCCGTGTGTTCGTAGGCGGCCAGATTAACAGGATGGACCAGGAGAGAAAGGCGTAAGTGTGGAGGGCTGGCCTGGGGGTGACTGCAGGGACCAGTGTCATCTTAGCTCCACCCAAGGCTGTCCCCTACCCTAGATCCTCTACCACCACCCCCAGGTGGGCACTGAGATTGTCCCAAAGCCCAGGGCCAGCTCTCTCCAGGCCATGGCAGTGGGCAGGAGCAGGAGCAGGTTTCTCTCCATTCCAGAAGTTGTTCTGGTTTCCTGCCCCCTTCAATAAATGCAGATGCCCTAGGCTTTGCTACGACAGGGAGGGGAGTTAGGTTGTAAAGTCACAAATCTCTGGGTTTGGATAACAAGAAGCATAAAAATAAGAAAGAAAAGGAATCCATTTTTTAAATTTAAAGTTAAGA
Task1_train_22740
The gene SLC12A3 (solute carrier family 12 member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Familial hypokalemia-hypomagnesemia
CCACCTAGCAGGCTCTGGGGCCCTTGTCCCACCCCTGCCAAGGCCCCTCTAGCCATGCAGGGTGGGGTGGGATTTTCCTTCGTCCTCTCCCACCATCACTCCGGGAGACAGGGGGCCTGAAGTGCAGGCGGGAGGGCTGCTGTGGGCATTTGTGAAGGGTGCAGGAGGTGTTTAAGGGAATGGAGAGTGCACTTCCCTACCTACCCAGAGGGCTCTGGGACTGCCCCCACCCCCAGTACTCACCAGAATCCCGGGAGAGAGAAGCTGAAAGCAGGGCAGGGGCACATCACAGCACTGAGCGTCCTGGGCCCCGGTTCCTGTTCCACCTGCCAGAGAACCCGTGTTCAACATCAGAAGGGGCGTTGGCGGGGCCCTGGGCCAGGCCTGCCTGGATGCGCGGCTGCTGGCTCTGCTCTGACCCGCCCCCACCTCCTGCAGTGGACCCCAAGGCCCTGGTGAAGGAGGAGCAGGCCACCACCATCTTCCAGTCGGAGCAGGGCAAGAAGACCATAGACATCTACTGGCTCTTTGACGATGGAGGTCAGTGACCCCCTTGGATCAGCCCTCCTGCCCGGCGGGGGCGGGGTGGTGGTGGTCTTCCTTCCTTCTCCTTCCTGGCCTGCTCTCAAAGGGGACAGGGGCTCCTGGGCCCAGCAGTGAGCTCAGGGGAGCCCAGAGGGACCCCTCTGTCTGGCCTCTAGTTTTTTGGTTATAAAATGGGAAGCTTTGAGAGAAGAGCTGAAGTCGCCATGAGATGGAAACTTCTGACTGGATGGCCCTTAGGGGCACAGGCAGGTGATATAAATGGGGAGATGGGCGGTGCCCAGGAAAGCTGGAGGAATATTTTTCACTTCACAATGAAATATAACCTCTCCCATTAAAAAACAAAAAAAGTGACTTTAAGCTTTATTGCTCCTACCTTTGATAGAGTCACAGATAGAAAGAAAATGTCTTCGCTCCAATGGAACGAGTCCTATTAATAACTGCCAAAATAGGCTGAGCACTTACTACCTGGCTGACAGGGAATTCCCTACCTAATCCAGTCCCCAGGTAGGAGCTGTCATGATTAACTCCGCTTTATAAATAAGGAAAATGAGGCACAGAGGATTACAAGGTGATATGTGACAGCTGGCCCTTGGTCTTGTGTGGAGAGACAACAGAGAGGGATGAGGGCTCCCACACGCTGGTCAAATATTCACTCTTCAAGAACTGCCAATGACCTCGATTTTTATGTGAAACTCCTCAATTATTAAATGACTTTTGTTTTTTATTATTCTTTTTGAGACGGAGTCTTACTTTGTCGCCCAGGCTGAAGTGCAGTGGCATGATGTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGGCTGCCACCACACCCAGCTAATTTTTGTATTTTTATTTTTATTTTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGAGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGTGCACCATCAGGCCCAGCTAATTTTTTGTGTTATTAGTAGAGATAGGGTTTTACCATGTTGGCCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCATAGTGCTGGGATTATAGGCATGAGCCATGGCGCCCGGCCGCCAGCTTGTTTATTTAAATATGCTGCACAAGCACAAATAAACCCTACCCCACAGAGCACCGTGTGCGACTTGAATTCAGTCAGCCATGTTCATTATACAGATGGGTCGACTGGGGTCCAGCGAGGAGAGGAAGGGGTTTGCTAATGGCAGAGCGGGGCAGGAACTCACATAGTGCTCTGTCCTGAGTGTATTCTTGTCATGACTCACGGGGACTCTCCTTGCCAGGCCTCACCCTCCTCATTCCCTATCTCCTTGGCCGCAAGAGGAGGTGGAGCAAATGCAAGATCCGTGTGTTCGTAGGCGGCCAGATTAACAGGATGGACCAGGAGAGAAAGGCGTAAGTGTGGAGGGCTGGCCTGGGGGTGACTGCAGGGACCAGTGTCATCTTAGCTCCACCCAAGGCTGTCCCCTACCCTAGATCCTCTACCACCACCCCCAGGTGGGCACTGAGATTGTCCCAAAGCCCAGGGCCAGCTCTCTCCAGGCCATGGCAGTGGGCAGGAGCAGGAGCAGGTTTCTCTCCATTCCAGAAGTTGTTCTGGTTTCCTGCCCCCTTCAATAAATGCAGATGCCCTAGGCTTTGCTACGACAGGGAGGGGAGTTAGGTTGTAAAGTCACAAATCTCTGGGTTTGGATAACAAGAAGCATAAAAATAAGAAAGAAAAGGAATCCATTTTTTAAATTTAAAGTTAAGAAAAGACAAGAAAAATAGAAAAAAAAAAAGATAAAAAGAAAAACAAAAAACAAATCTCCTCCAGGAGGAACCTGTATGAAATGAAGGATGGGCTGGGCCAAGGCAGCTGGATCCAGGAGTCCAGGAGTTCGAGACCAACCTGGGTGACATGGCAAAATCCTGTCTCTATGTTTTAAATTTTTATATATTTTAATTTTTTTTTTTTTTTTTGAGATGGATTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGACGCAATCTCGGCTCATTGCAACCTCCGCCCCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAACCAGGATTAGAGGCGTGCGCTACCATGCCCAGATAGTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCCAGCCAATATTTTAAATTTTTATATAAATATTTTATATATATTTAAAAATTTATATATAATTTTTTGAAAAAAGGAAATGAAGGCTGGAGAACACGCCTCCTCCTGAGAAATGAAGTAGGGGCTAGAATCCTTTAGGGCATCAGTCCCCAACCTTTTTGGCACCAGGGACTGGTTTCGTGGAAGACAATTTTTCCACAGGCTTGGGGGAGAGTGGTGGTTTTGGGATGGTTCAAGCTCATTACATTTATTGTGCACTTTATTTCTATTATGATTACATGGTAACATATAATTTAAAAATGATACAACTCACCATAATGTAGAATCAGTGGGAGCCCCGAGCTTGTTTTCCTGCAACTAGATGGTTCCATTTGGGAGTGATGGGAGACAGTGACAGATCATCAGGAGGGTTCATGGCCCTCTAAGATCCTGCAAGAGGGTTTGTGGCCCTCTAAGAGTCTAATGCCACTGCTGATCTGACAGGAGGCAGAGGTCAGATGGTAATGAAAGCGATGAGGAGCTGCTGTAAATACAGATAAAGCTGCATTCACTGCCATGCACCCGGTTCCTAACAGGCCATGGTCAGTACCTGTTGGCAGCCCCGGGGGTCAGGGGCCCCTGCTTTAAGGCAGTGTCTCCAATGCATGGGATGCAGACTCTGGGTGAGACAAGAGGTGACTTTAGTGGCCAGGGGTTGAGGCAGCAAATACCACTGAGTCTTTTGGTGAGAAGTGCCTTTTAATTCTCCTCCAATTCTGGGGCTGATTCTGCAGAAAGTCCTGGTTTAGCCTTGGCCCGTCCTTCCCTTTGGTAACCTGTGCTTGTCTCCCGGAGCAAGAGGAGTAGGCTGGATGCATGGGCTTGGCAGGCAATGGCATCTGGCCAGAACTTAGTGACCCTGGTTTATCGACATGGGTTTTATTGGACACCTCTCCCTGGCAAGAGGTGCTGGTTTTCTGTTTAAAATTGTGATGTTGGCTGGGCACAGTGGCTCTGCCTATAGATCTTGGCACTCTGGCAGCAGGCCAAGGCAGGGGATTGCTTGAGGCCAAGGGTTTGAGACCAGGCTGGGCAACATAGTGAGAGCCCATCTCTACCAAAAAACTTAAAAAAAAAATTAACTG
CCACCTAGCAGGCTCTGGGGCCCTTGTCCCACCCCTGCCAAGGCCCCTCTAGCCATGCAGGGTGGGGTGGGATTTTCCTTCGTCCTCTCCCACCATCACTCCGGGAGACAGGGGGCCTGAAGTGCAGGCGGGAGGGCTGCTGTGGGCATTTGTGAAGGGTGCAGGAGGTGTTTAAGGGAATGGAGAGTGCACTTCCCTACCTACCCAGAGGGCTCTGGGACTGCCCCCACCCCCAGTACTCACCAGAATCCCGGGAGAGAGAAGCTGAAAGCAGGGCAGGGGCACATCACAGCACTGAGCGTCCTGGGCCCCGGTTCCTGTTCCACCTGCCAGAGAACCCGTGTTCAACATCAGAAGGGGCGTTGGCGGGGCCCTGGGCCAGGCCTGCCTGGATGCGCGGCTGCTGGCTCTGCTCTGACCCGCCCCCACCTCCTGCAGTGGACCCCAAGGCCCTGGTGAAGGAGGAGCAGGCCACCACCATCTTCCAGTCGGAGCAGGGCAAGAAGACCATAGACATCTACTGGCTCTTTGACGATGGAGGTCAGTGACCCCCTTGGATCAGCCCTCCTGCCCGGCGGGGGCGGGGTGGTGGTGGTCTTCCTTCCTTCTCCTTCCTGGCCTGCTCTCAAAGGGGACAGGGGCTCCTGGGCCCAGCAGTGAGCTCAGGGGAGCCCAGAGGGACCCCTCTGTCTGGCCTCTAGTTTTTTGGTTATAAAATGGGAAGCTTTGAGAGAAGAGCTGAAGTCGCCATGAGATGGAAACTTCTGACTGGATGGCCCTTAGGGGCACAGGCAGGTGATATAAATGGGGAGATGGGCGGTGCCCAGGAAAGCTGGAGGAATATTTTTCACTTCACAATGAAATATAACCTCTCCCATTAAAAAACAAAAAAAGTGACTTTAAGCTTTATTGCTCCTACCTTTGATAGAGTCACAGATAGAAAGAAAATGTCTTCGCTCCAATGGAACGAGTCCTATTAATAACTGCCAAAATAGGCTGAGCACTTACTACCTGGCTGACAGGGAATTCCCTACCTAATCCAGTCCCCAGGTAGGAGCTGTCATGATTAACTCCGCTTTATAAATAAGGAAAATGAGGCACAGAGGATTACAAGGTGATATGTGACAGCTGGCCCTTGGTCTTGTGTGGAGAGACAACAGAGAGGGATGAGGGCTCCCACACGCTGGTCAAATATTCACTCTTCAAGAACTGCCAATGACCTCGATTTTTATGTGAAACTCCTCAATTATTAAATGACTTTTGTTTTTTATTATTCTTTTTGAGACGGAGTCTTACTTTGTCGCCCAGGCTGAAGTGCAGTGGCATGATGTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGGCTGCCACCACACCCAGCTAATTTTTGTATTTTTATTTTTATTTTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGAGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGTGCACCATCAGGCCCAGCTAATTTTTTGTGTTATTAGTAGAGATAGGGTTTTACCATGTTGGCCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCATAGTGCTGGGATTATAGGCATGAGCCATGGCGCCCGGCCGCCAGCTTGTTTATTTAAATATGCTGCACAAGCACAAATAAACCCTACCCCACAGAGCACCGTGTGCGACTTGAATTCAGTCAGCCATGTTCATTATACAGATGGGTCGACTGGGGTCCAGCGAGGAGAGGAAGGGGTTTGCTAATGGCAGAGCGGGGCAGGAACTCACATAGTGCTCTGTCCTGAGTGTATTCTTGTCATGACTCACGGGGACTCTCCTTGCCAGGCCTCACCCTCCTCATTCCCTATCTCCTTGGCTGCAAGAGGAGGTGGAGCAAATGCAAGATCCGTGTGTTCGTAGGCGGCCAGATTAACAGGATGGACCAGGAGAGAAAGGCGTAAGTGTGGAGGGCTGGCCTGGGGGTGACTGCAGGGACCAGTGTCATCTTAGCTCCACCCAAGGCTGTCCCCTACCCTAGATCCTCTACCACCACCCCCAGGTGGGCACTGAGATTGTCCCAAAGCCCAGGGCCAGCTCTCTCCAGGCCATGGCAGTGGGCAGGAGCAGGAGCAGGTTTCTCTCCATTCCAGAAGTTGTTCTGGTTTCCTGCCCCCTTCAATAAATGCAGATGCCCTAGGCTTTGCTACGACAGGGAGGGGAGTTAGGTTGTAAAGTCACAAATCTCTGGGTTTGGATAACAAGAAGCATAAAAATAAGAAAGAAAAGGAATCCATTTTTTAAATTTAAAGTTAAGAAAAGACAAGAAAAATAGAAAAAAAAAAAGATAAAAAGAAAAACAAAAAACAAATCTCCTCCAGGAGGAACCTGTATGAAATGAAGGATGGGCTGGGCCAAGGCAGCTGGATCCAGGAGTCCAGGAGTTCGAGACCAACCTGGGTGACATGGCAAAATCCTGTCTCTATGTTTTAAATTTTTATATATTTTAATTTTTTTTTTTTTTTTTGAGATGGATTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGACGCAATCTCGGCTCATTGCAACCTCCGCCCCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAACCAGGATTAGAGGCGTGCGCTACCATGCCCAGATAGTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCCAGCCAATATTTTAAATTTTTATATAAATATTTTATATATATTTAAAAATTTATATATAATTTTTTGAAAAAAGGAAATGAAGGCTGGAGAACACGCCTCCTCCTGAGAAATGAAGTAGGGGCTAGAATCCTTTAGGGCATCAGTCCCCAACCTTTTTGGCACCAGGGACTGGTTTCGTGGAAGACAATTTTTCCACAGGCTTGGGGGAGAGTGGTGGTTTTGGGATGGTTCAAGCTCATTACATTTATTGTGCACTTTATTTCTATTATGATTACATGGTAACATATAATTTAAAAATGATACAACTCACCATAATGTAGAATCAGTGGGAGCCCCGAGCTTGTTTTCCTGCAACTAGATGGTTCCATTTGGGAGTGATGGGAGACAGTGACAGATCATCAGGAGGGTTCATGGCCCTCTAAGATCCTGCAAGAGGGTTTGTGGCCCTCTAAGAGTCTAATGCCACTGCTGATCTGACAGGAGGCAGAGGTCAGATGGTAATGAAAGCGATGAGGAGCTGCTGTAAATACAGATAAAGCTGCATTCACTGCCATGCACCCGGTTCCTAACAGGCCATGGTCAGTACCTGTTGGCAGCCCCGGGGGTCAGGGGCCCCTGCTTTAAGGCAGTGTCTCCAATGCATGGGATGCAGACTCTGGGTGAGACAAGAGGTGACTTTAGTGGCCAGGGGTTGAGGCAGCAAATACCACTGAGTCTTTTGGTGAGAAGTGCCTTTTAATTCTCCTCCAATTCTGGGGCTGATTCTGCAGAAAGTCCTGGTTTAGCCTTGGCCCGTCCTTCCCTTTGGTAACCTGTGCTTGTCTCCCGGAGCAAGAGGAGTAGGCTGGATGCATGGGCTTGGCAGGCAATGGCATCTGGCCAGAACTTAGTGACCCTGGTTTATCGACATGGGTTTTATTGGACACCTCTCCCTGGCAAGAGGTGCTGGTTTTCTGTTTAAAATTGTGATGTTGGCTGGGCACAGTGGCTCTGCCTATAGATCTTGGCACTCTGGCAGCAGGCCAAGGCAGGGGATTGCTTGAGGCCAAGGGTTTGAGACCAGGCTGGGCAACATAGTGAGAGCCCATCTCTACCAAAAAACTTAAAAAAAAAATTAACTG
Task1_train_22741
The gene SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Familial hypokalemia-hypomagnesemia
CTCACCCCCACTAAGAACTTTCTCCTGGGAAAGCCCCTTTTCTGCAATGCTAAGGAAAGTGTTGCTTGGGAAAAGCAGCATCTGCCTTCTCTGTGATCTCCAAAAAGTAAATAAGATACGAGATTGCTCTGCAGTCTCTGCTCCCTGTCCTGGCTCTGAATGGAAGCTGGGTTCAGTAGGTTTGGTATAGCTCAAGGCTATGGAAGCCTGGGCTAACAGCATGTCCTTGGTGGGAAGGTTAGGTAACCCTTCCTCTGCCTCCCTCTGTCCCTTGGTGGGCCGCATCCTCTGCTCTCTACATAATCCTGGGGCAAGTCTATGCTGCCCTTGCCTAGGCACTGCCCAGGCCTGCCAGCCTCCGCTGCTACTGCACACCAAGACAAATCTGCCCACGGCTCTGCTTTCAAAATTTCACTCCCCAAGATCAGGGACCAGCAACGGCTTGCCTGCTGGGTCCCAGCCTGGTCCTCCAGACTTGTTTCCCATTTCTTCCTCTCTCCCAGCACACTCCATGCATCCCAGCCAGCTCCTCACTGCCCTGTTCCACCCCCCTGCACCCCGATGCCTTCCCTCCTTTTGACTGTTCCCCACCAACCAGTCCAGTGGTCCCTAACCAGGCTGGCACATCAGAATCACCTGGGGCATTACCAAAACCATGTCCTTCCCAGGGGTTCTGACTCAATGATGGGCAAGGGGTTGGGGGGAGGGCCCAGGCAGGTGTATTTTTTTGTTAGTTTGATTTGGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGTCTGGAGTGCAGTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCTACCACGGCCGGCTAATTTTTTGTATTTTTAGTGGAGACGGGGTTTCACTGTGTTAATCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAGGTGTATTGTTTTGAAGGCTTCTTGGGTAATGTTAGTGTAGACCCTCCCCTGCCCCACCCGCTTTGGCCTGTAACAATCTTACCCCTCTTTCACCGTCCAGCCAGACCGCCACCTCTGTGAAGTCTTCCCTGACTGCTACAAACCACAGTAGGCTTCTCCTTCCCTGTTAGATGCAAAGTCAGTGCCATCTGTCTTGCTACTCCTGGGTCTGTACCTAGTTTCTTGTGGGTTATCTTCGCTTCCTCAGCCGCTCTAGAATTTCCTTTATTCAACTTTCCTATTCCTTAGACCTTTGTTACTCAAAGTGTTGTCTGTGGACTAGCAGCATTGCATCCCCTGGGAGTGTGTTAGAAATGCAGAATCCCAGGCCTCACCCCAGACCAGCCGAATCAGAATCAGCGTGGTAACAAGATCCTCAGCAGATGCGTAGACATGTGAAAATTTGGGGTGCGCTAGTACAGAGATGGCCACCAGATACTTGGGAAAGTCTGGTCAATTACTTTTCCGTTTCACTTGTCATCATCTAACCCATTTTGTGGGTATTCGTTTCCTGTCTGCCGCTACCCCCATGTTCTACAAGCGCAGGCTTTGATCTATTTTCCTCACTGCTATGTAGTCAGTAGGTGCTCAGTGAAAATTAGTTGAATGAATAAATACATTTTTAAAACTCTCAGGCTGGGCATGGTGGCTCCAGCCTATAATGCCAGCACTTTGGGAGGCCGAGGCAGGATCACCCGAGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCATGCGTGGTGGCACACATCTGTAATCCCAACTACTCGGGAGGCTGGGGCATGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAATCGAGATTGCACCACTGCACTCCAGCCTGGGAGACAGAGCAAGACGCTGTCTCAAGAAAAAGTAATAACAATAAACCCTCCATGTGTCCTCCAGGATCATTTCTCTGCTGAGCAAGTTCCGACTGGGATTCCATGAAGTCCACATCCTCCCTGACATCAACCAGAACCCTCGGGCTGAGCAGTAAGTTCTGTTTTGGGGCTTCCAGGCAGAAGGGCCAACTGTGTGCCTGGAGACCCCTCTGCCGGCTGCCCCCTTTTTCCTTGGTAGACTAGGAGCAAGGGTCTCTCCTCCAAGCCCTTCCTAGATGTGTCAGAGGGCACAACTTCTGCAGTGGCTGTGGCCGGGGCCTGTCCCCTCCCTGGGGCTGAGGGGACCACAGGGCAAGGCGGCTGCAGCCCCTGACATTGTGTTAACACATTGGTGCTGGGAGAGGGGAAAAGGTGAGTGACCTGGGCAACAACTTCCTTCCTCCTTCCACGCAAGGGCAAGAGCACAGATTTTAAGCAAACCCCTGTGTGAATTTGTAGCAGTGACCAATGGCAGGTTCAGCAGGGACTGTTTGCTTTCCAAATGGTATAACTCCGTCTTCTTCAAATAAGACATTTACAAACAGGATTTGTATTTTGTCAATCAGTGTGCGTGAGGTTTTCCAGGACTGTCTCCTCACTAAGGTATGTTTCCTCCTGACCTCCTAGCCCTAACTTTTCTCTTACGTCTCCCAGCCGTAAGGATGTCCCCCATCTGGACAGGGAAGGAAATCAAGACAAGCAGAAAGGAGCTGTGTAATAGTGATGCATACATTGGCTCCAACCATTTGTTAGGAGCTGTGCTTGGTGCTGCAGAGGCAGAGATGAGGAATCTGCAGCCCCATCCTCCAAGCATGGCTGCAGGCTGGTGAAAGCCAAGGGCAGTTGCAATGCTGCAGAGACAGATCAGGGTGCCAAGGAGAGTAGGATTGTCTCTGTTGGTGGAAAAGCAAAGCCTTGCGAAAGGCTGGCCTTGATGATCAAAAAGAGATCAGGGAGATCTTCCAGGAAGAAGAGACAGCAGGAGCAACATACAGACCCCATCTAGCATCTGATTTTTATTTATTTATTTATTTATTTATTTATGAGATAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCACACCACTGTGCCCGGCTAAATTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCCAGCCTAGCATCTTATTTTAAAAATCCCCTCCATTGACCTTTCATCTGCCTCCAGCAACTGGACCATTTCTCTCCTCCTTGGCACAGCCAGACTTCAAGATGTTTGCACTCTTTGTCGACCCCTCCTCCCTTCCCCTAATCCTCCCGCTCCCAACCCACTGCCCCCGCTGTCTGAGACCACTCTTGCCAGCATCATCAGTGACCTCCACGTTGCCACACCCACAGAGTCCTCTCTCTCTCTACCTTTCAGCTGCACTTGACAGTGATCCTTCTTGAGACCGTTCCTTCTTTTGGCTTCCAAGACACCCCTTCCACTGGTTTCCTCCTGCATCAGGGGCCCTTCCTCCAGTTCGTCTGCTGGTTCTTCATCCTTGACCTCACTCGCCCTTGCTGGCATCCTTGGGGTTTGGCCCTGACCCTTTTCCCTTCTCTCCATTTACTCTGTCCCAGGTGAGCTCATCCATCCTTGTGGCTTCAGATAGCATCATCTGAATGCCAATCAGCCCTACATCTCTCTCTCTCTTTTTTTTTTTTGAGACAGTCTCACTCCATCACCCAGGTTGGAGTACAGTGGTACCATCTCAGCTCACTGCAACTTCCACATCCCAGGTTCAAGTGATTCTCCTGCCTCAGTCCTCTGAGTAGCTGGGATTACAGGTGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGCATTTCGTCAGGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC
CTCACCCCCACTAAGAACTTTCTCCTGGGAAAGCCCCTTTTCTGCAATGCTAAGGAAAGTGTTGCTTGGGAAAAGCAGCATCTGCCTTCTCTGTGATCTCCAAAAAGTAAATAAGATACGAGATTGCTCTGCAGTCTCTGCTCCCTGTCCTGGCTCTGAATGGAAGCTGGGTTCAGTAGGTTTGGTATAGCTCAAGGCTATGGAAGCCTGGGCTAACAGCATGTCCTTGGTGGGAAGGTTAGGTAACCCTTCCTCTGCCTCCCTCTGTCCCTTGGTGGGCCGCATCCTCTGCTCTCTACATAATCCTGGGGCAAGTCTATGCTGCCCTTGCCTAGGCACTGCCCAGGCCTGCCAGCCTCCGCTGCTACTGCACACCAAGACAAATCTGCCCACGGCTCTGCTTTCAAAATTTCACTCCCCAAGATCAGGGACCAGCAACGGCTTGCCTGCTGGGTCCCAGCCTGGTCCTCCAGACTTGTTTCCCATTTCTTCCTCTCTCCCAGCACACTCCATGCATCCCAGCCAGCTCCTCACTGCCCTGTTCCACCCCCCTGCACCCCGATGCCTTCCCTCCTTTTGACTGTTCCCCACCAACCAGTCCAGTGGTCCCTAACCAGGCTGGCACATCAGAATCACCTGGGGCATTACCAAAACCATGTCCTTCCCAGGGGTTCTGACTCAATGATGGGCAAGGGGTTGGGGGGAGGGCCCAGGCAGGTGTATTTTTTTGTTAGTTTGATTTGGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGTCTGGAGTGCAGTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCTACCACGGCCGGCTAATTTTTTGTATTTTTAGTGGAGACGGGGTTTCACTGTGTTAATCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAGGTGTATTGTTTTGAAGGCTTCTTGGGTAATGTTAGTGTAGACCCTCCCCTGCCCCACCCGCTTTGGCCTGTAACAATCTTACCCCTCTTTCACCGTCCAGCCAGACCGCCACCTCTGTGAAGTCTTCCCTGACTGCTACAAACCACAGTAGGCTTCTCCTTCCCTGTTAGATGCAAAGTCAGTGCCATCTGTCTTGCTACTCCTGGGTCTGTACCTAGTTTCTTGTGGGTTATCTTCGCTTCCTCAGCCGCTCTAGAATTTCCTTTATTCAACTTTCCTATTCCTTAGACCTTTGTTACTCAAAGTGTTGTCTGTGGACTAGCAGCATTGCATCCCCTGGGAGTGTGTTAGAAATGCAGAATCCCAGGCCTCACCCCAGACCAGCCGAATCAGAATCAGCGTGGTAACAAGATCCTCAGCAGATGCGTAGACATGTGAAAATTTGGGGTGCGCTAGTACAGAGATGGCCACCAGATACTTGGGAAAGTCTGGTCAATTACTTTTCCGTTTCACTTGTCATCATCTAACCCATTTTGTGGGTATTCGTTTCCTGTCTGCCGCTACCCCCATGTTCTACAAGCGCAGGCTTTGATCTATTTTCCTCACTGCTATGTAGTCAGTAGGTGCTCAGTGAAAATTAGTTGAATGAATAAATACATTTTTAAAACTCTCAGGCTGGGCATGGTGGCTCCAGCCTATAATGCCAGCACTTTGGGAGGCCGAGGCAGGATCACCCGAGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCATGCGTGGTGGCACACATCTGTAATCCCAACTACTCGGGAGGCTGGGGCATGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAATCGAGATTGCACCACTGCACTCCAGCCTGGGAGACAGAGCAAGACGCTGTCTCAAGAAAAAGTAATAACAATAAACCCTCCATGTGTCCTCCAGGATCATTTCTCTGCTGAGCAAGTTCCGACCGGGATTCCATGAAGTCCACATCCTCCCTGACATCAACCAGAACCCTCGGGCTGAGCAGTAAGTTCTGTTTTGGGGCTTCCAGGCAGAAGGGCCAACTGTGTGCCTGGAGACCCCTCTGCCGGCTGCCCCCTTTTTCCTTGGTAGACTAGGAGCAAGGGTCTCTCCTCCAAGCCCTTCCTAGATGTGTCAGAGGGCACAACTTCTGCAGTGGCTGTGGCCGGGGCCTGTCCCCTCCCTGGGGCTGAGGGGACCACAGGGCAAGGCGGCTGCAGCCCCTGACATTGTGTTAACACATTGGTGCTGGGAGAGGGGAAAAGGTGAGTGACCTGGGCAACAACTTCCTTCCTCCTTCCACGCAAGGGCAAGAGCACAGATTTTAAGCAAACCCCTGTGTGAATTTGTAGCAGTGACCAATGGCAGGTTCAGCAGGGACTGTTTGCTTTCCAAATGGTATAACTCCGTCTTCTTCAAATAAGACATTTACAAACAGGATTTGTATTTTGTCAATCAGTGTGCGTGAGGTTTTCCAGGACTGTCTCCTCACTAAGGTATGTTTCCTCCTGACCTCCTAGCCCTAACTTTTCTCTTACGTCTCCCAGCCGTAAGGATGTCCCCCATCTGGACAGGGAAGGAAATCAAGACAAGCAGAAAGGAGCTGTGTAATAGTGATGCATACATTGGCTCCAACCATTTGTTAGGAGCTGTGCTTGGTGCTGCAGAGGCAGAGATGAGGAATCTGCAGCCCCATCCTCCAAGCATGGCTGCAGGCTGGTGAAAGCCAAGGGCAGTTGCAATGCTGCAGAGACAGATCAGGGTGCCAAGGAGAGTAGGATTGTCTCTGTTGGTGGAAAAGCAAAGCCTTGCGAAAGGCTGGCCTTGATGATCAAAAAGAGATCAGGGAGATCTTCCAGGAAGAAGAGACAGCAGGAGCAACATACAGACCCCATCTAGCATCTGATTTTTATTTATTTATTTATTTATTTATTTATGAGATAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCACACCACTGTGCCCGGCTAAATTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCCAGCCTAGCATCTTATTTTAAAAATCCCCTCCATTGACCTTTCATCTGCCTCCAGCAACTGGACCATTTCTCTCCTCCTTGGCACAGCCAGACTTCAAGATGTTTGCACTCTTTGTCGACCCCTCCTCCCTTCCCCTAATCCTCCCGCTCCCAACCCACTGCCCCCGCTGTCTGAGACCACTCTTGCCAGCATCATCAGTGACCTCCACGTTGCCACACCCACAGAGTCCTCTCTCTCTCTACCTTTCAGCTGCACTTGACAGTGATCCTTCTTGAGACCGTTCCTTCTTTTGGCTTCCAAGACACCCCTTCCACTGGTTTCCTCCTGCATCAGGGGCCCTTCCTCCAGTTCGTCTGCTGGTTCTTCATCCTTGACCTCACTCGCCCTTGCTGGCATCCTTGGGGTTTGGCCCTGACCCTTTTCCCTTCTCTCCATTTACTCTGTCCCAGGTGAGCTCATCCATCCTTGTGGCTTCAGATAGCATCATCTGAATGCCAATCAGCCCTACATCTCTCTCTCTCTTTTTTTTTTTTGAGACAGTCTCACTCCATCACCCAGGTTGGAGTACAGTGGTACCATCTCAGCTCACTGCAACTTCCACATCCCAGGTTCAAGTGATTCTCCTGCCTCAGTCCTCTGAGTAGCTGGGATTACAGGTGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGCATTTCGTCAGGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC
Task1_train_22742
A variant has been detected on Chromosome 16 in SLC12A3 (solute carrier family 12 member 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Familial hypokalemia-hypomagnesemia
GTGGAAAAGCAAAGCCTTGCGAAAGGCTGGCCTTGATGATCAAAAAGAGATCAGGGAGATCTTCCAGGAAGAAGAGACAGCAGGAGCAACATACAGACCCCATCTAGCATCTGATTTTTATTTATTTATTTATTTATTTATTTATGAGATAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCACACCACTGTGCCCGGCTAAATTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCCAGCCTAGCATCTTATTTTAAAAATCCCCTCCATTGACCTTTCATCTGCCTCCAGCAACTGGACCATTTCTCTCCTCCTTGGCACAGCCAGACTTCAAGATGTTTGCACTCTTTGTCGACCCCTCCTCCCTTCCCCTAATCCTCCCGCTCCCAACCCACTGCCCCCGCTGTCTGAGACCACTCTTGCCAGCATCATCAGTGACCTCCACGTTGCCACACCCACAGAGTCCTCTCTCTCTCTACCTTTCAGCTGCACTTGACAGTGATCCTTCTTGAGACCGTTCCTTCTTTTGGCTTCCAAGACACCCCTTCCACTGGTTTCCTCCTGCATCAGGGGCCCTTCCTCCAGTTCGTCTGCTGGTTCTTCATCCTTGACCTCACTCGCCCTTGCTGGCATCCTTGGGGTTTGGCCCTGACCCTTTTCCCTTCTCTCCATTTACTCTGTCCCAGGTGAGCTCATCCATCCTTGTGGCTTCAGATAGCATCATCTGAATGCCAATCAGCCCTACATCTCTCTCTCTCTTTTTTTTTTTTGAGACAGTCTCACTCCATCACCCAGGTTGGAGTACAGTGGTACCATCTCAGCTCACTGCAACTTCCACATCCCAGGTTCAAGTGATTCTCCTGCCTCAGTCCTCTGAGTAGCTGGGATTACAGGTGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGCATTTCGTCAGGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCCAGCCCTAAATCTCTGTCTTTAATGATGTGAGTCACATCGCACAGAAGACCCCCAGCAGCTTCTGGTCTCACTTGGGGCAGATAAGGAAGCCCTGCCCGACTGGGCCCTCTCTGCCTGCCTGTCCTCACCTCCTCCCACCCTTCCCTGCACTCACCTTGCTCCAGCACACAGGATCCTTCACTGCTCCTCATATGAGCCAAACACGCTCTGCCTCAGGGCTTCTGCACGTTCAGTTCTGTTCGCTTCTGCACCCCCTGTCCCGTGCATGGCTGGTTTTGCAAGGACAGACTTCCTTCAGGTCCCAGAAGGGCCTTCCCCACCCATTATTCTCTGTCCCAGTACTTGGTTGTCCCTTCATAAGCTTCCACTTCATATTTATTTGCTACTTGCTTATCACCGTGGCTCTGTGAGGACTGGGGACACAATCTGATTTGTTCACTGTTGTGTAGCACAGAGCCTGGTACAGAATCATGCTCTGTAAATACCTGCTGGATGGTCGGGTGGGTCACAGGTCAGTGGTTGTGGGCAACTTGTGAAAGTTCAGTTGGATGCCAGACCCAGCCAGCAGAGCTGAATTCAACATGGAAGCCACTTTGTAAATGGCAGTGTCCGATGGGTTTCAGCCTGAAAATGGGAGCTGTGGCAACACTGCCAGCTCCCCGCAGGGACCTGGCACCCCTAGAAATGGGGTTATCGTCTCAGCCGGCCTCAACCCACTTTCTCGTCCCCAGCACCAAGAGGTTTGAGGACATGATTGCACCCTTCCGTCTGAATGATGGCTTCAAGGATGAGGCCACTGTCAACGAGATGCGGCGGGACTGCCCCTGGAAGATCTCAGATGAGGAGATTACGAAGAACAGAGTCAAGGTGCAGAGAGGGGTGGGGGTGGGAAACGCGACACATCACTGGGTCAGGGACGGGTGTCCTGCATGTCTTGAGCTCCCCCAGCCCCTCCCCTCGATCCTCCACCCTGCCTTCCACTCCGGCCCCTGAGGTATCCTCAAGCCACAGTCGTTCAGGCTGATGGGTAACCCGGCTGTGGAACTCAGTGCTATCCTTGACCTGGGAGCCTGGTCCTCCTGCCCATCTTGAGTGAGCTCTGGCAGTGGGCTTGACTGCCCGGAGTCCTCCTCCTCCTCCTCCTCCTCCACACTTCCTCTATGCCGGGTGGAAGAGATTTCTGAGACTCATGGTGACAGCCAAGGTATAATTAGTCCTGTTAGGCCGGGCATGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAGACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTGTCCTGTGGGCCAACACGGCTGCCTGACCTTCCCTGCTTAGCCTCTAGACCCTACCCCTGCCACAGCTCAGAGCTATGGTGCCCCTTCCTGGACAGCACCTTCAGGACTCTAAGGGCTAAGAAAGGGTGTGTGCCTGTAGCCATGCTGTGAGTGCGTCAAGGTGGGGCAGGCTCTAGGAGTGCGAGCGAGAGCGATGGGGGCAAGGGCCGGGTCCTACTTCTACCCCCAGTGTCAGTCATTCTCCACCACGAGGGAGCTTACCCCCTGGGGGACATTTGGCAACCTCTGGAGACATTTTTGTTTGTCACAACTCGGGGGTGGGGCTGCTACTGTCAGGCAGTGAGGAGAGACCTGCGATGCTGCCAAACATCCTACGATGTGCAGGACACTTCCCACAACAAGGACTTGTATGCCCCAAATAACTACAGTGCAAGGTCCAGAATCCCTTACCCACGTTAACTCCCTTCCCCTCGGTCTCTTGGTCTCCAGGATAGGGCATCCGTCCACGATCAGTTCCTGAGTGTCAATCATTTCTGAATAATTTGAGCTAGGCCTTGGGTTGGAAGGAGTCTCCCACCCCCAACCCAGTCCCACGCAAGTTTGGGGACTTCCCTAATCTGTCAGCCCCGAGACCCTGCCCCAAAGGGCCCATGCAGCCATCTGGCTCTTTGGAAAATGCTGAATAAAACATTGTGTCCGAAGAAGACCTTCCAATACTCTGTTACAGAAGAAGTGGGGCAACCTCTCTTTTATAAAGTATTTTTAGTGTACCAGGCCCTCTGCCGGGTGCTTTTGCATAGGTTGTCTCATTTGATCCTCCCCAAATTCCCCTGGAGAAGGTATCATCATACCCATTTTACAGATGAAGATGGTGAAGGTCAGGGAGACAACCTGACTTGCCCAAGTTCTCTCTGCTATGAAATGTGAGAGCTGAGATCTGAACCTAGTAAGGTGTTCTCTCTTCCCTCTACCCTGCTGGTTATGGTCATAAAGTCAGGCAAGGAAAAGCCACAGAATGCTTCTTGGAGGAGGTGAGCTTGGTGCTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAAATCATGAATCCAGTTGAAAATGTTAATGAGGCCATAGACGTGGTGAAGGATTGAGTGACCTCGATGATATGGGAAGTGACCACTCGGCTTTCTCCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAATGAGATTGTGCTGGATTACTCCCGAGACGCTGCTCTCATCGTCATGTAAGTAGTGCCCGGCTGGTGGGAGGACCAGTCTGTC
GTGGAAAAGCAAAGCCTTGCGAAAGGCTGGCCTTGATGATCAAAAAGAGATCAGGGAGATCTTCCAGGAAGAAGAGACAGCAGGAGCAACATACAGACCCCATCTAGCATCTGATTTTTATTTATTTATTTATTTATTTATTTATGAGATAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCACACCACTGTGCCCGGCTAAATTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCCAGCCTAGCATCTTATTTTAAAAATCCCCTCCATTGACCTTTCATCTGCCTCCAGCAACTGGACCATTTCTCTCCTCCTTGGCACAGCCAGACTTCAAGATGTTTGCACTCTTTGTCGACCCCTCCTCCCTTCCCCTAATCCTCCCGCTCCCAACCCACTGCCCCCGCTGTCTGAGACCACTCTTGCCAGCATCATCAGTGACCTCCACGTTGCCACACCCACAGAGTCCTCTCTCTCTCTACCTTTCAGCTGCACTTGACAGTGATCCTTCTTGAGACCGTTCCTTCTTTTGGCTTCCAAGACACCCCTTCCACTGGTTTCCTCCTGCATCAGGGGCCCTTCCTCCAGTTCGTCTGCTGGTTCTTCATCCTTGACCTCACTCGCCCTTGCTGGCATCCTTGGGGTTTGGCCCTGACCCTTTTCCCTTCTCTCCATTTACTCTGTCCCAGGTGAGCTCATCCATCCTTGTGGCTTCAGATAGCATCATCTGAATGCCAATCAGCCCTACATCTCTCTCTCTCTTTTTTTTTTTTGAGACAGTCTCACTCCATCACCCAGGTTGGAGTACAGTGGTACCATCTCAGCTCACTGCAACTTCCACATCCCAGGTTCAAGTGATTCTCCTGCCTCAGTCCTCTGAGTAGCTGGGATTACAGGTGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGCATTTCGTCAGGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCCAGCCCTAAATCTCTGTCTTTAATGATGTGAGTCACATCGCACAGAAGACCCCCAGCAGCTTCTGGTCTCACTTGGGGCAGATAAGGAAGCCCTGCCCGACTGGGCCCTCTCTGCCTGCCTGTCCTCACCTCCTCCCACCCTTCCCTGCACTCACCTTGCTCCAGCACACAGGATCCTTCACTGCTCCTCATATGAGCCAAACACGCTCTGCCTCAGGGCTTCTGCACGTTCAGTTCTGTTCGCTTCTGCACCCCCTGTCCCGTGCATGGCTGGTTTTGCAAGGACAGACTTCCTTCAGGTCCCAGAAGGGCCTTCCCCACCCATTATTCTCTGTCCCAGTACTTGGTTGTCCCTTCATAAGCTTCCACTTCATATTTATTTGCTACTTGCTTATCACCGTGGCTCTGTGAGGACTGGGGACACAATCTGATTTGTTCACTGTTGTGTAGCACAGAGCCTGGTACAGAATCATGCTCTGTAAATACCTGCTGGATGGTCGGGTGGGTCACAGGTCAGTGGTTGTGGGCAACTTGTGAAAGTTCAGTTGGATGCCAGACCCAGCCAGCAGAGCTGAATTCAACATGGAAGCCACTTTGTAAATGGCAGTGTCCGATGGGTTTCAGCCTGAAAATGGGAGCTGTGGCAACACTGCCAGCTCCCCGCAGGGACCTGGCACCCCTAGAAATGGGGTTATCGTCTCAGCCGGCCTCAACCCACTTTCTCGTCCCCAGCACCAAGAGGTTTGAGGACATGATTGCACCCTTCCGTCTGAATGATGGCTTCAAGGATGAGGCCACTGTCAACGAGATGTGGCGGGACTGCCCCTGGAAGATCTCAGATGAGGAGATTACGAAGAACAGAGTCAAGGTGCAGAGAGGGGTGGGGGTGGGAAACGCGACACATCACTGGGTCAGGGACGGGTGTCCTGCATGTCTTGAGCTCCCCCAGCCCCTCCCCTCGATCCTCCACCCTGCCTTCCACTCCGGCCCCTGAGGTATCCTCAAGCCACAGTCGTTCAGGCTGATGGGTAACCCGGCTGTGGAACTCAGTGCTATCCTTGACCTGGGAGCCTGGTCCTCCTGCCCATCTTGAGTGAGCTCTGGCAGTGGGCTTGACTGCCCGGAGTCCTCCTCCTCCTCCTCCTCCTCCACACTTCCTCTATGCCGGGTGGAAGAGATTTCTGAGACTCATGGTGACAGCCAAGGTATAATTAGTCCTGTTAGGCCGGGCATGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAGACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTGTCCTGTGGGCCAACACGGCTGCCTGACCTTCCCTGCTTAGCCTCTAGACCCTACCCCTGCCACAGCTCAGAGCTATGGTGCCCCTTCCTGGACAGCACCTTCAGGACTCTAAGGGCTAAGAAAGGGTGTGTGCCTGTAGCCATGCTGTGAGTGCGTCAAGGTGGGGCAGGCTCTAGGAGTGCGAGCGAGAGCGATGGGGGCAAGGGCCGGGTCCTACTTCTACCCCCAGTGTCAGTCATTCTCCACCACGAGGGAGCTTACCCCCTGGGGGACATTTGGCAACCTCTGGAGACATTTTTGTTTGTCACAACTCGGGGGTGGGGCTGCTACTGTCAGGCAGTGAGGAGAGACCTGCGATGCTGCCAAACATCCTACGATGTGCAGGACACTTCCCACAACAAGGACTTGTATGCCCCAAATAACTACAGTGCAAGGTCCAGAATCCCTTACCCACGTTAACTCCCTTCCCCTCGGTCTCTTGGTCTCCAGGATAGGGCATCCGTCCACGATCAGTTCCTGAGTGTCAATCATTTCTGAATAATTTGAGCTAGGCCTTGGGTTGGAAGGAGTCTCCCACCCCCAACCCAGTCCCACGCAAGTTTGGGGACTTCCCTAATCTGTCAGCCCCGAGACCCTGCCCCAAAGGGCCCATGCAGCCATCTGGCTCTTTGGAAAATGCTGAATAAAACATTGTGTCCGAAGAAGACCTTCCAATACTCTGTTACAGAAGAAGTGGGGCAACCTCTCTTTTATAAAGTATTTTTAGTGTACCAGGCCCTCTGCCGGGTGCTTTTGCATAGGTTGTCTCATTTGATCCTCCCCAAATTCCCCTGGAGAAGGTATCATCATACCCATTTTACAGATGAAGATGGTGAAGGTCAGGGAGACAACCTGACTTGCCCAAGTTCTCTCTGCTATGAAATGTGAGAGCTGAGATCTGAACCTAGTAAGGTGTTCTCTCTTCCCTCTACCCTGCTGGTTATGGTCATAAAGTCAGGCAAGGAAAAGCCACAGAATGCTTCTTGGAGGAGGTGAGCTTGGTGCTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAAATCATGAATCCAGTTGAAAATGTTAATGAGGCCATAGACGTGGTGAAGGATTGAGTGACCTCGATGATATGGGAAGTGACCACTCGGCTTTCTCCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAATGAGATTGTGCTGGATTACTCCCGAGACGCTGCTCTCATCGTCATGTAAGTAGTGCCCGGCTGGTGGGAGGACCAGTCTGTC
Task1_train_22743
Located on Chromosome 16, this mutation impacts SLC12A3 (solute carrier family 12 member 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Familial hypokalemia-hypomagnesemia
ACATGATTGCACCCTTCCGTCTGAATGATGGCTTCAAGGATGAGGCCACTGTCAACGAGATGCGGCGGGACTGCCCCTGGAAGATCTCAGATGAGGAGATTACGAAGAACAGAGTCAAGGTGCAGAGAGGGGTGGGGGTGGGAAACGCGACACATCACTGGGTCAGGGACGGGTGTCCTGCATGTCTTGAGCTCCCCCAGCCCCTCCCCTCGATCCTCCACCCTGCCTTCCACTCCGGCCCCTGAGGTATCCTCAAGCCACAGTCGTTCAGGCTGATGGGTAACCCGGCTGTGGAACTCAGTGCTATCCTTGACCTGGGAGCCTGGTCCTCCTGCCCATCTTGAGTGAGCTCTGGCAGTGGGCTTGACTGCCCGGAGTCCTCCTCCTCCTCCTCCTCCTCCACACTTCCTCTATGCCGGGTGGAAGAGATTTCTGAGACTCATGGTGACAGCCAAGGTATAATTAGTCCTGTTAGGCCGGGCATGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAGACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTGTCCTGTGGGCCAACACGGCTGCCTGACCTTCCCTGCTTAGCCTCTAGACCCTACCCCTGCCACAGCTCAGAGCTATGGTGCCCCTTCCTGGACAGCACCTTCAGGACTCTAAGGGCTAAGAAAGGGTGTGTGCCTGTAGCCATGCTGTGAGTGCGTCAAGGTGGGGCAGGCTCTAGGAGTGCGAGCGAGAGCGATGGGGGCAAGGGCCGGGTCCTACTTCTACCCCCAGTGTCAGTCATTCTCCACCACGAGGGAGCTTACCCCCTGGGGGACATTTGGCAACCTCTGGAGACATTTTTGTTTGTCACAACTCGGGGGTGGGGCTGCTACTGTCAGGCAGTGAGGAGAGACCTGCGATGCTGCCAAACATCCTACGATGTGCAGGACACTTCCCACAACAAGGACTTGTATGCCCCAAATAACTACAGTGCAAGGTCCAGAATCCCTTACCCACGTTAACTCCCTTCCCCTCGGTCTCTTGGTCTCCAGGATAGGGCATCCGTCCACGATCAGTTCCTGAGTGTCAATCATTTCTGAATAATTTGAGCTAGGCCTTGGGTTGGAAGGAGTCTCCCACCCCCAACCCAGTCCCACGCAAGTTTGGGGACTTCCCTAATCTGTCAGCCCCGAGACCCTGCCCCAAAGGGCCCATGCAGCCATCTGGCTCTTTGGAAAATGCTGAATAAAACATTGTGTCCGAAGAAGACCTTCCAATACTCTGTTACAGAAGAAGTGGGGCAACCTCTCTTTTATAAAGTATTTTTAGTGTACCAGGCCCTCTGCCGGGTGCTTTTGCATAGGTTGTCTCATTTGATCCTCCCCAAATTCCCCTGGAGAAGGTATCATCATACCCATTTTACAGATGAAGATGGTGAAGGTCAGGGAGACAACCTGACTTGCCCAAGTTCTCTCTGCTATGAAATGTGAGAGCTGAGATCTGAACCTAGTAAGGTGTTCTCTCTTCCCTCTACCCTGCTGGTTATGGTCATAAAGTCAGGCAAGGAAAAGCCACAGAATGCTTCTTGGAGGAGGTGAGCTTGGTGCTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAAATCATGAATCCAGTTGAAAATGTTAATGAGGCCATAGACGTGGTGAAGGATTGAGTGACCTCGATGATATGGGAAGTGACCACTCGGCTTTCTCCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAATGAGATTGTGCTGGATTACTCCCGAGACGCTGCTCTCATCGTCATGTAAGTAGTGCCCGGCTGGTGGGAGGACCAGTCTGTCCAGAGTCAGGTGTCTCAGCTCTGGGAAGGGGCTCAGCAGGGGCACCACGGAGGGCCCAAGCCTTCCCCTAGGAAGCAGAAGGGCCAAAGTTCCCATAAACATAGCCCTGGCGATTCTTAGCATGTGGCTGGGCCTGAGCCCGCCCCACACCTGAGCTCCAGCTGGCAGGGGTCGAGGGCCTCACGTGTCCCAGGCATCAGTGACCTCCCCTTGCCATTGCTTTTTCCTGTTGGCTGCCTTTTCCTACCAAATTCCACTTGGCAAAGAGGGAACCCAGCTCTTTCAAGAGGGACATCAACTCCTGGTTGTTCAGGAATTACTTGGCCCTCCTTGGCTATCGGCCATTCCCAGCTGATGTTGGTTCCAAGCCTGAGCAACAGAAACAGAGGCCTGTCCTAGCCCTGGCTGTTCCTACTGGACCCACGTCCAGTTCTGAGCCACCCCTGGGTGTATTAGCCAGGGCTGAGCAAGCAGAATGTGGGATGGAAGGTGAGAGCTATGCAGCAAAGGTCTCAGGGTGGCTCTGCTCTCTCTGAGGCCTGTAAGAAGAACATGATTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGGTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGGTTGCCCCATTTCACTCCAGCCTGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAGGAAGAAGAGGAAGAACATGATCAGCCAAGCCCTCAGCTCAGGGGACAAGGGGTCTTCGCCAAGGTAAGTAACTGGCCTCTCCTACATTTCCTGGGGGCCAACCACCTGGGAATCAGACAGAAGGGATCTTTCGGCTCTGGTGATGTACCCCACTCCCAGACCTGTCACCATCTGACCTGGACTGCAGATGCCAGGTTCTGCATGACAGCCGAAATGTTCGTGGAAACTGCTTGTTCAGAGCCTGAAGCCAGGACCAACTACACAATTTGCAAGGCCTAGGACAAAATGAAAATGTGGGGCACCTTGCTCAGAAACTATTAAGAAGGTCTGTGGTCTTCCCTTTCAAAGCAGTCTCCCTTACATCCTCACATAGGATGTATGGAATTTGTTTTTTAAAAAATCTCACAGTGGTGGAAAGGAGGAGGGGGTAGGGGTTCAACACAACTGATCATAGTTTGATCATTGATGTAGACAGATGATGACGTGGGCATGAAACGTCAGGGTATCATTTTTCAAACTTCACCTGTTTGAACCCTTCTATAAATCTGCAAAATGCATCCTGCCTTGGAGAGCAACCACAAGTGCCTCATCAAGCTTGCTTTCTCTGGCAAGAAGGTCCCCAAAAACCTAGCGCCACACACTGTTCTAGGAAGATGTGCTCAGATAGGAGGGATCCTTCAGCTCTGGTGATACAACCCATTCCCAGACTTGTCACCATCTGACCTAGACTGCAGATGCCAGGATCTAAGGATATTAGATTCATGAGAGGAGACCTCAGAACAAGTGGTCCATTGAGGGTGATAAAAGCAACTCAAACTATTTTCCCCCTACTTCTGTTGCTTGAGTACTGTGTACGTTGCATGCATCCCTTACTGCTGTGTCTGCAATACCCTCTTTCAGGAGAGCACCAGCAATGTTTCTTTTATGTAGTGTAAGTGCCCCTTTGAGAAGATCAAAACAGCAAATGGGTTCAGACTGAAAATGGCCAATGGCTTCTAGCAGATGAGTAGATAAAGCTTGAGGATACGCATCCTCCTAGGTCTCATCAAAGGCTAGAAGCTGAGCAACCAGTTTGGAGACCTGACCTGGAGGTTTCTGGACCTCCAGTCTGTCTTAAGAT
ACATGATTGCACCCTTCCGTCTGAATGATGGCTTCAAGGATGAGGCCACTGTCAACGAGATGCGGCGGGACTGCCCCTGGAAGATCTCAGATGAGGAGATTACGAAGAACAGAGTCAAGGTGCAGAGAGGGGTGGGGGTGGGAAACGCGACACATCACTGGGTCAGGGACGGGTGTCCTGCATGTCTTGAGCTCCCCCAGCCCCTCCCCTCGATCCTCCACCCTGCCTTCCACTCCGGCCCCTGAGGTATCCTCAAGCCACAGTCGTTCAGGCTGATGGGTAACCCGGCTGTGGAACTCAGTGCTATCCTTGACCTGGGAGCCTGGTCCTCCTGCCCATCTTGAGTGAGCTCTGGCAGTGGGCTTGACTGCCCGGAGTCCTCCTCCTCCTCCTCCTCCTCCACACTTCCTCTATGCCGGGTGGAAGAGATTTCTGAGACTCATGGTGACAGCCAAGGTATAATTAGTCCTGTTAGGCCGGGCATGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAGACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTGTCCTGTGGGCCAACACGGCTGCCTGACCTTCCCTGCTTAGCCTCTAGACCCTACCCCTGCCACAGCTCAGAGCTATGGTGCCCCTTCCTGGACAGCACCTTCAGGACTCTAAGGGCTAAGAAAGGGTGTGTGCCTGTAGCCATGCTGTGAGTGCGTCAAGGTGGGGCAGGCTCTAGGAGTGCGAGCGAGAGCGATGGGGGCAAGGGCCGGGTCCTACTTCTACCCCCAGTGTCAGTCATTCTCCACCACGAGGGAGCTTACCCCCTGGGGGACATTTGGCAACCTCTGGAGACATTTTTGTTTGTCACAACTCGGGGGTGGGGCTGCTACTGTCAGGCAGTGAGGAGAGACCTGCGATGCTGCCAAACATCCTACGATGTGCAGGACACTTCCCACAACAAGGACTTGTATGCCCCAAATAACTACAGTGCAAGGTCCAGAATCCCTTACCCACGTTAACTCCCTTCCCCTCGGTCTCTTGGTCTCCAGGATAGGGCATCCGTCCACGATCAGTTCCTGAGTGTCAATCATTTCTGAATAATTTGAGCTAGGCCTTGGGTTGGAAGGAGTCTCCCACCCCCAACCCAGTCCCACGCAAGTTTGGGGACTTCCCTAATCTGTCAGCCCCGAGACCCTGCCCCAAAGGGCCCATGCAGCCATCTGGCTCTTTGGAAAATGCTGAATAAAACATTGTGTCCGAAGAAGACCTTCCAATACTCTGTTACAGAAGAAGTGGGGCAACCTCTCTTTTATAAAGTATTTTTAGTGTACCAGGCCCTCTGCCGGGTGCTTTTGCATAGGTTGTCTCATTTGATCCTCCCCAAATTCCCCTGGAGAAGGTATCATCATACCCATTTTACAGATGAAGATGGTGAAGGTCAGGGAGACAACCTGACTTGCCCAAGTTCTCTCTGCTATGAAATGTGAGAGCTGAGATCTGAACCTAGTAAGGTGTTCTCTCTTCCCTCTACCCTGCTGGTTATGGTCATAAAGTCAGGCAAGGAAAAGCCACAGAATGCTTCTTGGAGGAGGTGAGCTTGGTGCTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAAATCATGAATCCAGTTGAAAATGTTAATGAGGCCATAGACGTGGTGAAGGATTGAGTGACCTCGATGATATGGGAAGTGACCACTCGGCTTTCTCCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAATGAGATTGTGCTGGATTACTTCCGAGACGCTGCTCTCATCGTCATGTAAGTAGTGCCCGGCTGGTGGGAGGACCAGTCTGTCCAGAGTCAGGTGTCTCAGCTCTGGGAAGGGGCTCAGCAGGGGCACCACGGAGGGCCCAAGCCTTCCCCTAGGAAGCAGAAGGGCCAAAGTTCCCATAAACATAGCCCTGGCGATTCTTAGCATGTGGCTGGGCCTGAGCCCGCCCCACACCTGAGCTCCAGCTGGCAGGGGTCGAGGGCCTCACGTGTCCCAGGCATCAGTGACCTCCCCTTGCCATTGCTTTTTCCTGTTGGCTGCCTTTTCCTACCAAATTCCACTTGGCAAAGAGGGAACCCAGCTCTTTCAAGAGGGACATCAACTCCTGGTTGTTCAGGAATTACTTGGCCCTCCTTGGCTATCGGCCATTCCCAGCTGATGTTGGTTCCAAGCCTGAGCAACAGAAACAGAGGCCTGTCCTAGCCCTGGCTGTTCCTACTGGACCCACGTCCAGTTCTGAGCCACCCCTGGGTGTATTAGCCAGGGCTGAGCAAGCAGAATGTGGGATGGAAGGTGAGAGCTATGCAGCAAAGGTCTCAGGGTGGCTCTGCTCTCTCTGAGGCCTGTAAGAAGAACATGATTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGGTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGGTTGCCCCATTTCACTCCAGCCTGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAGGAAGAAGAGGAAGAACATGATCAGCCAAGCCCTCAGCTCAGGGGACAAGGGGTCTTCGCCAAGGTAAGTAACTGGCCTCTCCTACATTTCCTGGGGGCCAACCACCTGGGAATCAGACAGAAGGGATCTTTCGGCTCTGGTGATGTACCCCACTCCCAGACCTGTCACCATCTGACCTGGACTGCAGATGCCAGGTTCTGCATGACAGCCGAAATGTTCGTGGAAACTGCTTGTTCAGAGCCTGAAGCCAGGACCAACTACACAATTTGCAAGGCCTAGGACAAAATGAAAATGTGGGGCACCTTGCTCAGAAACTATTAAGAAGGTCTGTGGTCTTCCCTTTCAAAGCAGTCTCCCTTACATCCTCACATAGGATGTATGGAATTTGTTTTTTAAAAAATCTCACAGTGGTGGAAAGGAGGAGGGGGTAGGGGTTCAACACAACTGATCATAGTTTGATCATTGATGTAGACAGATGATGACGTGGGCATGAAACGTCAGGGTATCATTTTTCAAACTTCACCTGTTTGAACCCTTCTATAAATCTGCAAAATGCATCCTGCCTTGGAGAGCAACCACAAGTGCCTCATCAAGCTTGCTTTCTCTGGCAAGAAGGTCCCCAAAAACCTAGCGCCACACACTGTTCTAGGAAGATGTGCTCAGATAGGAGGGATCCTTCAGCTCTGGTGATACAACCCATTCCCAGACTTGTCACCATCTGACCTAGACTGCAGATGCCAGGATCTAAGGATATTAGATTCATGAGAGGAGACCTCAGAACAAGTGGTCCATTGAGGGTGATAAAAGCAACTCAAACTATTTTCCCCCTACTTCTGTTGCTTGAGTACTGTGTACGTTGCATGCATCCCTTACTGCTGTGTCTGCAATACCCTCTTTCAGGAGAGCACCAGCAATGTTTCTTTTATGTAGTGTAAGTGCCCCTTTGAGAAGATCAAAACAGCAAATGGGTTCAGACTGAAAATGGCCAATGGCTTCTAGCAGATGAGTAGATAAAGCTTGAGGATACGCATCCTCCTAGGTCTCATCAAAGGCTAGAAGCTGAGCAACCAGTTTGGAGACCTGACCTGGAGGTTTCTGGACCTCCAGTCTGTCTTAAGAT
Task1_train_22744
The gene LOC126862361, SLC12A3 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:56946332-56947531| solute carrier family 12 member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
GCCTTGGTCCAACCCACCTTCCCTAATTTTTGAGACCTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCATGCCTGGCCCGGGACATTGCTTTTTAAAGGAGGGTAGGGCTTGTCCCAGGTGAAGCTTTGTGGATGGAACTTCCAAGTGTGACATAGCTGTTTAGTATCCCAGTTACCCTTCTCAGAGGAGGTTGGAGTTGCTGTGAGCAGAGGCTGCTGCGGAGGGAAGATGTCAAGACCTCGGTTCGAATTCCAGCTTTGCCGCCGCTGGCTTAGCTGTCGCGTGCTGGTCAGTACTAAGTGGTGATGACAGCTGCTGACCTTACAGAGCACTCACTGTGTGCCAGGCATTGTGCTGTGCCTGCGTGTGCTTTGCCTGTTTTAGCATCACAAACATCCTGCGAGGGAGGTTTTTGTGTTCTTGCTTTAGGGAAGAGAAACTCTGCAAAGGTCATCTGGCTGAGGAAGTGGCAAAGCCACGACTCGGACGCCAGAGACTGGCTCTGACCTCAGCGCTCCAGCATCCTCCTCCCGCCCCAGTTCTCCCACCTGTGAAGGAGCGCGGTGCTGCGGGCCCTGCCCATTCCCCAGGGGGATGTACTTGGGGAAAACAGACACTCAAGTGAGTCCCACGGAAGGTGCTGGTGCCCCCACTTCATGCGGCACCAGCTGGACCTGTGAGACACTGCTGGAGCCCACAGACCCTCCTGGAGCCCAGAGCTGGGCAGCTGTGGCCATCCCAATGCATTTTTGGAATTCTCCAGATAGTAGAAAAGTCACTTCCTGAAATAGTTGGAAGACATGGCTGGACAGCATTCCCAGGGCATCTTTTTATTCACGCAGCATTGCACAGTTAAGACAAGGGGCCTCCCCATAGGCAGCGGTGGAGTCTTGCTCCCAGGGCCTCCTGCACAGGGCAGGAGGCAGGACAAAGACGCTGAGCTGGACAATGAATGAACAGGAACATATCACATTGCTGTGGCCACAGGCTGGCACAGGGCTGGAGAGGCAAGCCTGGCATGAAGCGGGTGGCCTGATAGGGAAGGGTCGCCCACTTAACAAATATATACTGAGCCTGACTGTATCAGACTGTGTTCTAGGCACTGGGAAAAGGGGGGTGAATAAGGCAGATCTGGCCTCCTTGTGAGCGAACATTCTAATGTGGGGAGACAAGCACATAAATCAGAAGATGCTGTTGGGACTGTGGAGGGCTCTGAAGGCAGTAAAGTGGGGTGATGTGAGGAAGAGGCGTGGGCGGCCTGCCCTGGAGGAGTGATCAGGGAGGAGGTGGGTGCACTTGCCTGACTCAAAGGAAGTGACCAGGTGCAGAGCTGGGGCTGCTCCTTTCCTGGTGGGTGGGGAGAACGTCAAGTGCAAAGGTTGGAGGCAGGAGTGAGCTTGGCATTTTTTTAGGAATGGAAAGAAAGCCACAGGGCATCGGGGGTGAGCAAGGCGAGGGTGGGAGGAGGTGAGGTCGTGGGCTTGGCAAGGACTAGATCCCATAGGGCTTGTGGGCCATGGCTTTGTTTAGAAACGCTTCACGGCAGAAGGTCCATTCTGGGTCAGGTTTGTGCGGAAAGTGGGGAGGTCATTCTTAGGGTGGGTGGAAGGAGCTCTGAGGGACGGTAAACAGACTCGCTGTTCTGAAAACAAACTGGGAGCTGGGCGTGTGGAGCGGCCCCGTGGTAATCTCTCTTCTACCACTTTTTCATGCCTTGCAGCACTTTGCCCATAGGGAGGAAGGGGAAGTGCCCCAGCTCGCTGTACATGGCCTGGCTGGAGACCCTGTCCCAGGACCTCAGACCTCCAGTCATCCTGATCCGAGGAAACCAGGAAAACGTGCTCACCTTTTACTGCCAGTAACTCCAGGCTTTGACATCCCTGTCCACAGCTCTGAGTGTGTGGGATAAGTTGGAACTTGATTGCCTCTAGTCCACAGGGATGAGACTCATGTTCTGTTGCACTTTAAGTGGCAGCATCTGATGATCTCACCGAAAAAGATGGTAGATTTCCAAATCTGGCTGGACTCCACTTCCATGGGACACATTCCCTGGGTCTTGTGTTTATAGGCTAGAGAAATAGCAGATGGAGCTGCAAGGAAAACTCTCTAAAGCATCCTATTCCTTTTAAAGGATTTCTTTTGATTTTGATGACCATTAATTAAGAGTTCAGTCTTTGATTTGTATGCAAATTGGAGTCCCAATGCTGGGCGTGAATCTTGACAGTTTCTACAGACCTTCCTGGGTGAAAGTTCCTAAATCATGCCCTGCTTCCTCCAATAGGAGAATGGGAGCCTCACCTGTAGGACCTACAGGCTCTCTAAGGAATGCAGGTCTCTCTCTGAGCCTCCACAGCCAGGCAAATACATATATATATATTTTTTTTTTAGATGAAGTTTTTTCTCTTGTTGCCCAGGCTAGGGTGTAATGGCATGATCTCAGGTCACTGCAACCTCCTCCCGGGTTCAAGCATTTCTTCTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCACCTGCCATCACACGAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTGTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGTGCTGGGGTTACAGGCCTGAGCCACTGCGCCCGGCCCAGGCAAATTTCTTGAACCACTTCTCACTCCCGTCACTTTCAATAAGGGGTCTTTGATGTCTTCACTGGTTCTTTGGACGAGGGACTTTTCGAACTTTTTTGGTTGCAACACACAGTAAGAAATATACTTCACACTGAGACTTGCAGCGCACACACACGGAAACGACCAAAACAAAAATGTCACAAAACAATACTTACCCTTCCCTGGGGGACGTCCTCCAGTATGTTCTGTTCTGTTTATTTTTCACTGTTGGTTGCAATCCAATAAAATGACTTTGGGATCCACTCATGGGTGGGGACCCACACATTTGAAAGGCATGGCCACCTTTCTGTTGTGCCTTGCATTTGTCCACACACAGGGAGTCTGGCTGAGCTGGGGAAAGGCCACGGCTGGGTGTCATTGCCATTTTCCCAGCTCATCTCACCGGGAAGAAAAGCAGATTGACAGAACACGTGAGGAGGGGTATTGATGGCAGGAGAGTCAAAAAAGAGTTTTAAAGAAGGGGCAAGGTTGAAGGAGTCTAGTGGCAAGGGTAAGATTTCAGGCATGGTTAAGAACAGACGACAAGGATGTCAGGAATGAAGATGTGGAGAGGGGTGTAGAGATGGCAAGGTTGGCAAGGAACAGATAGGCAGGAGCAGGTCCAAGCCAAGCCTAGCCCAAGACCAGGTGAAAGGAGAGGGGAGGAGGAGCCACCTGCAAGAGATGGAAAGAGCAGGCGGCAGAGGGGGCTGGCAGGGAGGGGCTGTTAAGAGTGGGGTTGGAGGTGGGAGAGAAGCTAGGACAAGGGAGATGGAGAAAGGACCTATACCTGGCTCACGGAAGGCCTTCAGGTCACTACACGTTGAACATCCCCAGTGTTTGAGCCCCCAAAGCTAGGGTGCAAGAGCACTGCCATCGAATGCCAGTGGGTGAGGCCAAGTGAGGGTATTTGCAGCTCTAGACATAACCAAGAAGCGTAAAGGTGAGTTGTTTGGTGGTACGACTGCCTGTGCCTTCTTCCGATGGCACTGGGGTGGCTGAAGGAACAGACATCTTTGGGTTTCATCAGCCTCCTCCAAGACTGCTGCAGTGCCTACACTTTAGACTTCAGAAGGAGACTAAAGACTTCTAGAATTTAGAAGGAGATCTGAAGTCTCCTTTCTGGAGTTACAAC
GCCTTGGTCCAACCCACCTTCCCTAATTTTTGAGACCTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCATGCCTGGCCCGGGACATTGCTTTTTAAAGGAGGGTAGGGCTTGTCCCAGGTGAAGCTTTGTGGATGGAACTTCCAAGTGTGACATAGCTGTTTAGTATCCCAGTTACCCTTCTCAGAGGAGGTTGGAGTTGCTGTGAGCAGAGGCTGCTGCGGAGGGAAGATGTCAAGACCTCGGTTCGAATTCCAGCTTTGCCGCCGCTGGCTTAGCTGTCGCGTGCTGGTCAGTACTAAGTGGTGATGACAGCTGCTGACCTTACAGAGCACTCACTGTGTGCCAGGCATTGTGCTGTGCCTGCGTGTGCTTTGCCTGTTTTAGCATCACAAACATCCTGCGAGGGAGGTTTTTGTGTTCTTGCTTTAGGGAAGAGAAACTCTGCAAAGGTCATCTGGCTGAGGAAGTGGCAAAGCCACGACTCGGACGCCAGAGACTGGCTCTGACCTCAGCGCTCCAGCATCCTCCTCCCGCCCCAGTTCTCCCACCTGTGAAGGAGCGCGGTGCTGCGGGCCCTGCCCATTCCCCAGGGGGATGTACTTGGGGAAAACAGACACTCAAGTGAGTCCCACGGAAGGTGCTGGTGCCCCCACTTCATGCGGCACCAGCTGGACCTGTGAGACACTGCTGGAGCCCACAGACCCTCCTGGAGCCCAGAGCTGGGCAGCTGTGGCCATCCCAATGCATTTTTGGAATTCTCCAGATAGTAGAAAAGTCACTTCCTGAAATAGTTGGAAGACATGGCTGGACAGCATTCCCAGGGCATCTTTTTATTCACGCAGCATTGCACAGTTAAGACAAGGGGCCTCCCCATAGGCAGCGGTGGAGTCTTGCTCCCAGGGCCTCCTGCACAGGGCAGGAGGCAGGACAAAGACGCTGAGCTGGACAATGAATGAACAGGAACATATCACATTGCTGTGGCCACAGGCTGGCACAGGGCTGGAGAGGCAAGCCTGGCATGAAGCGGGTGGCCTGATAGGGAAGGGTCGCCCACTTAACAAATATATACTGAGCCTGACTGTATCAGACTGTGTTCTAGGCACTGGGAAAAGGGGGGTGAATAAGGCAGATCTGGCCTCCTTGTGAGCGAACATTCTAATGTGGGGAGACAAGCACATAAATCAGAAGATGCTGTTGGGACTGTGGAGGGCTCTGAAGGCAGTAAAGTGGGGTGATGTGAGGAAGAGGCGTGGGCGGCCTGCCCTGGAGGAGTGATCAGGGAGGAGGTGGGTGCACTTGCCTGACTCAAAGGAAGTGACCAGGTGCAGAGCTGGGGCTGCTCCTTTCCTGGTGGGTGGGGAGAACGTCAAGTGCAAAGGTTGGAGGCAGGAGTGAGCTTGGCATTTTTTTAGGAATGGAAAGAAAGCCACAGGGCATCGGGGGTGAGCAAGGCGAGGGTGGGAGGAGGTGAGGTCGTGGGCTTGGCAAGGACTAGATCCCATAGGGCTTGTGGGCCATGGCTTTGTTTAGAAACGCTTCACGGCAGAAGGTCCATTCTGGGTCAGGTTTGTGCGGAAAGTGGGGAGGTCATTCTTAGGGTGGGTGGAAGGAGCTCTGAGGGACGGTAAACAGACTCGCTGTTCTGAAAACAAACTGGGAGCTGGGCGTGTGGAGCGGCCCCGTGGTAATCTCTCTTCTACCACTTTTTCATGCCTTGCAGCACTTTGCCCATAGGGAGGAAGGGGAAGTGCCCCAGCTCGCTGTACATGGCCTGCCTGGAGACCCTGTCCCAGGACCTCAGACCTCCAGTCATCCTGATCCGAGGAAACCAGGAAAACGTGCTCACCTTTTACTGCCAGTAACTCCAGGCTTTGACATCCCTGTCCACAGCTCTGAGTGTGTGGGATAAGTTGGAACTTGATTGCCTCTAGTCCACAGGGATGAGACTCATGTTCTGTTGCACTTTAAGTGGCAGCATCTGATGATCTCACCGAAAAAGATGGTAGATTTCCAAATCTGGCTGGACTCCACTTCCATGGGACACATTCCCTGGGTCTTGTGTTTATAGGCTAGAGAAATAGCAGATGGAGCTGCAAGGAAAACTCTCTAAAGCATCCTATTCCTTTTAAAGGATTTCTTTTGATTTTGATGACCATTAATTAAGAGTTCAGTCTTTGATTTGTATGCAAATTGGAGTCCCAATGCTGGGCGTGAATCTTGACAGTTTCTACAGACCTTCCTGGGTGAAAGTTCCTAAATCATGCCCTGCTTCCTCCAATAGGAGAATGGGAGCCTCACCTGTAGGACCTACAGGCTCTCTAAGGAATGCAGGTCTCTCTCTGAGCCTCCACAGCCAGGCAAATACATATATATATATTTTTTTTTTAGATGAAGTTTTTTCTCTTGTTGCCCAGGCTAGGGTGTAATGGCATGATCTCAGGTCACTGCAACCTCCTCCCGGGTTCAAGCATTTCTTCTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCACCTGCCATCACACGAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTGTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGTGCTGGGGTTACAGGCCTGAGCCACTGCGCCCGGCCCAGGCAAATTTCTTGAACCACTTCTCACTCCCGTCACTTTCAATAAGGGGTCTTTGATGTCTTCACTGGTTCTTTGGACGAGGGACTTTTCGAACTTTTTTGGTTGCAACACACAGTAAGAAATATACTTCACACTGAGACTTGCAGCGCACACACACGGAAACGACCAAAACAAAAATGTCACAAAACAATACTTACCCTTCCCTGGGGGACGTCCTCCAGTATGTTCTGTTCTGTTTATTTTTCACTGTTGGTTGCAATCCAATAAAATGACTTTGGGATCCACTCATGGGTGGGGACCCACACATTTGAAAGGCATGGCCACCTTTCTGTTGTGCCTTGCATTTGTCCACACACAGGGAGTCTGGCTGAGCTGGGGAAAGGCCACGGCTGGGTGTCATTGCCATTTTCCCAGCTCATCTCACCGGGAAGAAAAGCAGATTGACAGAACACGTGAGGAGGGGTATTGATGGCAGGAGAGTCAAAAAAGAGTTTTAAAGAAGGGGCAAGGTTGAAGGAGTCTAGTGGCAAGGGTAAGATTTCAGGCATGGTTAAGAACAGACGACAAGGATGTCAGGAATGAAGATGTGGAGAGGGGTGTAGAGATGGCAAGGTTGGCAAGGAACAGATAGGCAGGAGCAGGTCCAAGCCAAGCCTAGCCCAAGACCAGGTGAAAGGAGAGGGGAGGAGGAGCCACCTGCAAGAGATGGAAAGAGCAGGCGGCAGAGGGGGCTGGCAGGGAGGGGCTGTTAAGAGTGGGGTTGGAGGTGGGAGAGAAGCTAGGACAAGGGAGATGGAGAAAGGACCTATACCTGGCTCACGGAAGGCCTTCAGGTCACTACACGTTGAACATCCCCAGTGTTTGAGCCCCCAAAGCTAGGGTGCAAGAGCACTGCCATCGAATGCCAGTGGGTGAGGCCAAGTGAGGGTATTTGCAGCTCTAGACATAACCAAGAAGCGTAAAGGTGAGTTGTTTGGTGGTACGACTGCCTGTGCCTTCTTCCGATGGCACTGGGGTGGCTGAAGGAACAGACATCTTTGGGTTTCATCAGCCTCCTCCAAGACTGCTGCAGTGCCTACACTTTAGACTTCAGAAGGAGACTAAAGACTTCTAGAATTTAGAAGGAGATCTGAAGTCTCCTTTCTGGAGTTACAAC
Task1_train_22745
The gene LOC126862361, SLC12A3 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:56946332-56947531| solute carrier family 12 member 3) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Familial hypokalemia-hypomagnesemia
TTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCATGCCTGGCCCGGGACATTGCTTTTTAAAGGAGGGTAGGGCTTGTCCCAGGTGAAGCTTTGTGGATGGAACTTCCAAGTGTGACATAGCTGTTTAGTATCCCAGTTACCCTTCTCAGAGGAGGTTGGAGTTGCTGTGAGCAGAGGCTGCTGCGGAGGGAAGATGTCAAGACCTCGGTTCGAATTCCAGCTTTGCCGCCGCTGGCTTAGCTGTCGCGTGCTGGTCAGTACTAAGTGGTGATGACAGCTGCTGACCTTACAGAGCACTCACTGTGTGCCAGGCATTGTGCTGTGCCTGCGTGTGCTTTGCCTGTTTTAGCATCACAAACATCCTGCGAGGGAGGTTTTTGTGTTCTTGCTTTAGGGAAGAGAAACTCTGCAAAGGTCATCTGGCTGAGGAAGTGGCAAAGCCACGACTCGGACGCCAGAGACTGGCTCTGACCTCAGCGCTCCAGCATCCTCCTCCCGCCCCAGTTCTCCCACCTGTGAAGGAGCGCGGTGCTGCGGGCCCTGCCCATTCCCCAGGGGGATGTACTTGGGGAAAACAGACACTCAAGTGAGTCCCACGGAAGGTGCTGGTGCCCCCACTTCATGCGGCACCAGCTGGACCTGTGAGACACTGCTGGAGCCCACAGACCCTCCTGGAGCCCAGAGCTGGGCAGCTGTGGCCATCCCAATGCATTTTTGGAATTCTCCAGATAGTAGAAAAGTCACTTCCTGAAATAGTTGGAAGACATGGCTGGACAGCATTCCCAGGGCATCTTTTTATTCACGCAGCATTGCACAGTTAAGACAAGGGGCCTCCCCATAGGCAGCGGTGGAGTCTTGCTCCCAGGGCCTCCTGCACAGGGCAGGAGGCAGGACAAAGACGCTGAGCTGGACAATGAATGAACAGGAACATATCACATTGCTGTGGCCACAGGCTGGCACAGGGCTGGAGAGGCAAGCCTGGCATGAAGCGGGTGGCCTGATAGGGAAGGGTCGCCCACTTAACAAATATATACTGAGCCTGACTGTATCAGACTGTGTTCTAGGCACTGGGAAAAGGGGGGTGAATAAGGCAGATCTGGCCTCCTTGTGAGCGAACATTCTAATGTGGGGAGACAAGCACATAAATCAGAAGATGCTGTTGGGACTGTGGAGGGCTCTGAAGGCAGTAAAGTGGGGTGATGTGAGGAAGAGGCGTGGGCGGCCTGCCCTGGAGGAGTGATCAGGGAGGAGGTGGGTGCACTTGCCTGACTCAAAGGAAGTGACCAGGTGCAGAGCTGGGGCTGCTCCTTTCCTGGTGGGTGGGGAGAACGTCAAGTGCAAAGGTTGGAGGCAGGAGTGAGCTTGGCATTTTTTTAGGAATGGAAAGAAAGCCACAGGGCATCGGGGGTGAGCAAGGCGAGGGTGGGAGGAGGTGAGGTCGTGGGCTTGGCAAGGACTAGATCCCATAGGGCTTGTGGGCCATGGCTTTGTTTAGAAACGCTTCACGGCAGAAGGTCCATTCTGGGTCAGGTTTGTGCGGAAAGTGGGGAGGTCATTCTTAGGGTGGGTGGAAGGAGCTCTGAGGGACGGTAAACAGACTCGCTGTTCTGAAAACAAACTGGGAGCTGGGCGTGTGGAGCGGCCCCGTGGTAATCTCTCTTCTACCACTTTTTCATGCCTTGCAGCACTTTGCCCATAGGGAGGAAGGGGAAGTGCCCCAGCTCGCTGTACATGGCCTGGCTGGAGACCCTGTCCCAGGACCTCAGACCTCCAGTCATCCTGATCCGAGGAAACCAGGAAAACGTGCTCACCTTTTACTGCCAGTAACTCCAGGCTTTGACATCCCTGTCCACAGCTCTGAGTGTGTGGGATAAGTTGGAACTTGATTGCCTCTAGTCCACAGGGATGAGACTCATGTTCTGTTGCACTTTAAGTGGCAGCATCTGATGATCTCACCGAAAAAGATGGTAGATTTCCAAATCTGGCTGGACTCCACTTCCATGGGACACATTCCCTGGGTCTTGTGTTTATAGGCTAGAGAAATAGCAGATGGAGCTGCAAGGAAAACTCTCTAAAGCATCCTATTCCTTTTAAAGGATTTCTTTTGATTTTGATGACCATTAATTAAGAGTTCAGTCTTTGATTTGTATGCAAATTGGAGTCCCAATGCTGGGCGTGAATCTTGACAGTTTCTACAGACCTTCCTGGGTGAAAGTTCCTAAATCATGCCCTGCTTCCTCCAATAGGAGAATGGGAGCCTCACCTGTAGGACCTACAGGCTCTCTAAGGAATGCAGGTCTCTCTCTGAGCCTCCACAGCCAGGCAAATACATATATATATATTTTTTTTTTAGATGAAGTTTTTTCTCTTGTTGCCCAGGCTAGGGTGTAATGGCATGATCTCAGGTCACTGCAACCTCCTCCCGGGTTCAAGCATTTCTTCTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCACCTGCCATCACACGAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTGTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGTGCTGGGGTTACAGGCCTGAGCCACTGCGCCCGGCCCAGGCAAATTTCTTGAACCACTTCTCACTCCCGTCACTTTCAATAAGGGGTCTTTGATGTCTTCACTGGTTCTTTGGACGAGGGACTTTTCGAACTTTTTTGGTTGCAACACACAGTAAGAAATATACTTCACACTGAGACTTGCAGCGCACACACACGGAAACGACCAAAACAAAAATGTCACAAAACAATACTTACCCTTCCCTGGGGGACGTCCTCCAGTATGTTCTGTTCTGTTTATTTTTCACTGTTGGTTGCAATCCAATAAAATGACTTTGGGATCCACTCATGGGTGGGGACCCACACATTTGAAAGGCATGGCCACCTTTCTGTTGTGCCTTGCATTTGTCCACACACAGGGAGTCTGGCTGAGCTGGGGAAAGGCCACGGCTGGGTGTCATTGCCATTTTCCCAGCTCATCTCACCGGGAAGAAAAGCAGATTGACAGAACACGTGAGGAGGGGTATTGATGGCAGGAGAGTCAAAAAAGAGTTTTAAAGAAGGGGCAAGGTTGAAGGAGTCTAGTGGCAAGGGTAAGATTTCAGGCATGGTTAAGAACAGACGACAAGGATGTCAGGAATGAAGATGTGGAGAGGGGTGTAGAGATGGCAAGGTTGGCAAGGAACAGATAGGCAGGAGCAGGTCCAAGCCAAGCCTAGCCCAAGACCAGGTGAAAGGAGAGGGGAGGAGGAGCCACCTGCAAGAGATGGAAAGAGCAGGCGGCAGAGGGGGCTGGCAGGGAGGGGCTGTTAAGAGTGGGGTTGGAGGTGGGAGAGAAGCTAGGACAAGGGAGATGGAGAAAGGACCTATACCTGGCTCACGGAAGGCCTTCAGGTCACTACACGTTGAACATCCCCAGTGTTTGAGCCCCCAAAGCTAGGGTGCAAGAGCACTGCCATCGAATGCCAGTGGGTGAGGCCAAGTGAGGGTATTTGCAGCTCTAGACATAACCAAGAAGCGTAAAGGTGAGTTGTTTGGTGGTACGACTGCCTGTGCCTTCTTCCGATGGCACTGGGGTGGCTGAAGGAACAGACATCTTTGGGTTTCATCAGCCTCCTCCAAGACTGCTGCAGTGCCTACACTTTAGACTTCAGAAGGAGACTAAAGACTTCTAGAATTTAGAAGGAGATCTGAAGTCTCCTTTCTGGAGTTACAACCCAAAGGATGTTAGCATTTCTCAGGTCATCCCACTGCAAAGCCCAGA
TTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCATGCCTGGCCCGGGACATTGCTTTTTAAAGGAGGGTAGGGCTTGTCCCAGGTGAAGCTTTGTGGATGGAACTTCCAAGTGTGACATAGCTGTTTAGTATCCCAGTTACCCTTCTCAGAGGAGGTTGGAGTTGCTGTGAGCAGAGGCTGCTGCGGAGGGAAGATGTCAAGACCTCGGTTCGAATTCCAGCTTTGCCGCCGCTGGCTTAGCTGTCGCGTGCTGGTCAGTACTAAGTGGTGATGACAGCTGCTGACCTTACAGAGCACTCACTGTGTGCCAGGCATTGTGCTGTGCCTGCGTGTGCTTTGCCTGTTTTAGCATCACAAACATCCTGCGAGGGAGGTTTTTGTGTTCTTGCTTTAGGGAAGAGAAACTCTGCAAAGGTCATCTGGCTGAGGAAGTGGCAAAGCCACGACTCGGACGCCAGAGACTGGCTCTGACCTCAGCGCTCCAGCATCCTCCTCCCGCCCCAGTTCTCCCACCTGTGAAGGAGCGCGGTGCTGCGGGCCCTGCCCATTCCCCAGGGGGATGTACTTGGGGAAAACAGACACTCAAGTGAGTCCCACGGAAGGTGCTGGTGCCCCCACTTCATGCGGCACCAGCTGGACCTGTGAGACACTGCTGGAGCCCACAGACCCTCCTGGAGCCCAGAGCTGGGCAGCTGTGGCCATCCCAATGCATTTTTGGAATTCTCCAGATAGTAGAAAAGTCACTTCCTGAAATAGTTGGAAGACATGGCTGGACAGCATTCCCAGGGCATCTTTTTATTCACGCAGCATTGCACAGTTAAGACAAGGGGCCTCCCCATAGGCAGCGGTGGAGTCTTGCTCCCAGGGCCTCCTGCACAGGGCAGGAGGCAGGACAAAGACGCTGAGCTGGACAATGAATGAACAGGAACATATCACATTGCTGTGGCCACAGGCTGGCACAGGGCTGGAGAGGCAAGCCTGGCATGAAGCGGGTGGCCTGATAGGGAAGGGTCGCCCACTTAACAAATATATACTGAGCCTGACTGTATCAGACTGTGTTCTAGGCACTGGGAAAAGGGGGGTGAATAAGGCAGATCTGGCCTCCTTGTGAGCGAACATTCTAATGTGGGGAGACAAGCACATAAATCAGAAGATGCTGTTGGGACTGTGGAGGGCTCTGAAGGCAGTAAAGTGGGGTGATGTGAGGAAGAGGCGTGGGCGGCCTGCCCTGGAGGAGTGATCAGGGAGGAGGTGGGTGCACTTGCCTGACTCAAAGGAAGTGACCAGGTGCAGAGCTGGGGCTGCTCCTTTCCTGGTGGGTGGGGAGAACGTCAAGTGCAAAGGTTGGAGGCAGGAGTGAGCTTGGCATTTTTTTAGGAATGGAAAGAAAGCCACAGGGCATCGGGGGTGAGCAAGGCGAGGGTGGGAGGAGGTGAGGTCGTGGGCTTGGCAAGGACTAGATCCCATAGGGCTTGTGGGCCATGGCTTTGTTTAGAAACGCTTCACGGCAGAAGGTCCATTCTGGGTCAGGTTTGTGCGGAAAGTGGGGAGGTCATTCTTAGGGTGGGTGGAAGGAGCTCTGAGGGACGGTAAACAGACTCGCTGTTCTGAAAACAAACTGGGAGCTGGGCGTGTGGAGCGGCCCCGTGGTAATCTCTCTTCTACCACTTTTTCATGCCTTGCAGCACTTTGCCCATAGGGAGGAAGGGGAAGTGCCCCAGCTCGCTGTACATGGCCTGGCTGGAGACCCTGTCCCAGGACCTCAGACCTCCAGTCATCCTGATCCAAGGAAACCAGGAAAACGTGCTCACCTTTTACTGCCAGTAACTCCAGGCTTTGACATCCCTGTCCACAGCTCTGAGTGTGTGGGATAAGTTGGAACTTGATTGCCTCTAGTCCACAGGGATGAGACTCATGTTCTGTTGCACTTTAAGTGGCAGCATCTGATGATCTCACCGAAAAAGATGGTAGATTTCCAAATCTGGCTGGACTCCACTTCCATGGGACACATTCCCTGGGTCTTGTGTTTATAGGCTAGAGAAATAGCAGATGGAGCTGCAAGGAAAACTCTCTAAAGCATCCTATTCCTTTTAAAGGATTTCTTTTGATTTTGATGACCATTAATTAAGAGTTCAGTCTTTGATTTGTATGCAAATTGGAGTCCCAATGCTGGGCGTGAATCTTGACAGTTTCTACAGACCTTCCTGGGTGAAAGTTCCTAAATCATGCCCTGCTTCCTCCAATAGGAGAATGGGAGCCTCACCTGTAGGACCTACAGGCTCTCTAAGGAATGCAGGTCTCTCTCTGAGCCTCCACAGCCAGGCAAATACATATATATATATTTTTTTTTTAGATGAAGTTTTTTCTCTTGTTGCCCAGGCTAGGGTGTAATGGCATGATCTCAGGTCACTGCAACCTCCTCCCGGGTTCAAGCATTTCTTCTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCACCTGCCATCACACGAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTGTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGTGCTGGGGTTACAGGCCTGAGCCACTGCGCCCGGCCCAGGCAAATTTCTTGAACCACTTCTCACTCCCGTCACTTTCAATAAGGGGTCTTTGATGTCTTCACTGGTTCTTTGGACGAGGGACTTTTCGAACTTTTTTGGTTGCAACACACAGTAAGAAATATACTTCACACTGAGACTTGCAGCGCACACACACGGAAACGACCAAAACAAAAATGTCACAAAACAATACTTACCCTTCCCTGGGGGACGTCCTCCAGTATGTTCTGTTCTGTTTATTTTTCACTGTTGGTTGCAATCCAATAAAATGACTTTGGGATCCACTCATGGGTGGGGACCCACACATTTGAAAGGCATGGCCACCTTTCTGTTGTGCCTTGCATTTGTCCACACACAGGGAGTCTGGCTGAGCTGGGGAAAGGCCACGGCTGGGTGTCATTGCCATTTTCCCAGCTCATCTCACCGGGAAGAAAAGCAGATTGACAGAACACGTGAGGAGGGGTATTGATGGCAGGAGAGTCAAAAAAGAGTTTTAAAGAAGGGGCAAGGTTGAAGGAGTCTAGTGGCAAGGGTAAGATTTCAGGCATGGTTAAGAACAGACGACAAGGATGTCAGGAATGAAGATGTGGAGAGGGGTGTAGAGATGGCAAGGTTGGCAAGGAACAGATAGGCAGGAGCAGGTCCAAGCCAAGCCTAGCCCAAGACCAGGTGAAAGGAGAGGGGAGGAGGAGCCACCTGCAAGAGATGGAAAGAGCAGGCGGCAGAGGGGGCTGGCAGGGAGGGGCTGTTAAGAGTGGGGTTGGAGGTGGGAGAGAAGCTAGGACAAGGGAGATGGAGAAAGGACCTATACCTGGCTCACGGAAGGCCTTCAGGTCACTACACGTTGAACATCCCCAGTGTTTGAGCCCCCAAAGCTAGGGTGCAAGAGCACTGCCATCGAATGCCAGTGGGTGAGGCCAAGTGAGGGTATTTGCAGCTCTAGACATAACCAAGAAGCGTAAAGGTGAGTTGTTTGGTGGTACGACTGCCTGTGCCTTCTTCCGATGGCACTGGGGTGGCTGAAGGAACAGACATCTTTGGGTTTCATCAGCCTCCTCCAAGACTGCTGCAGTGCCTACACTTTAGACTTCAGAAGGAGACTAAAGACTTCTAGAATTTAGAAGGAGATCTGAAGTCTCCTTTCTGGAGTTACAACCCAAAGGATGTTAGCATTTCTCAGGTCATCCCACTGCAAAGCCCAGA
Task1_train_22746
A sequence alteration has been identified in LOC126862361, SLC12A3 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:56946332-56947531| solute carrier family 12 member 3) on Chromosome 16. Is it disease-inducing or harmless?
Pathogenic; Familial hypokalemia-hypomagnesemia
TTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCATGCCTGGCCCGGGACATTGCTTTTTAAAGGAGGGTAGGGCTTGTCCCAGGTGAAGCTTTGTGGATGGAACTTCCAAGTGTGACATAGCTGTTTAGTATCCCAGTTACCCTTCTCAGAGGAGGTTGGAGTTGCTGTGAGCAGAGGCTGCTGCGGAGGGAAGATGTCAAGACCTCGGTTCGAATTCCAGCTTTGCCGCCGCTGGCTTAGCTGTCGCGTGCTGGTCAGTACTAAGTGGTGATGACAGCTGCTGACCTTACAGAGCACTCACTGTGTGCCAGGCATTGTGCTGTGCCTGCGTGTGCTTTGCCTGTTTTAGCATCACAAACATCCTGCGAGGGAGGTTTTTGTGTTCTTGCTTTAGGGAAGAGAAACTCTGCAAAGGTCATCTGGCTGAGGAAGTGGCAAAGCCACGACTCGGACGCCAGAGACTGGCTCTGACCTCAGCGCTCCAGCATCCTCCTCCCGCCCCAGTTCTCCCACCTGTGAAGGAGCGCGGTGCTGCGGGCCCTGCCCATTCCCCAGGGGGATGTACTTGGGGAAAACAGACACTCAAGTGAGTCCCACGGAAGGTGCTGGTGCCCCCACTTCATGCGGCACCAGCTGGACCTGTGAGACACTGCTGGAGCCCACAGACCCTCCTGGAGCCCAGAGCTGGGCAGCTGTGGCCATCCCAATGCATTTTTGGAATTCTCCAGATAGTAGAAAAGTCACTTCCTGAAATAGTTGGAAGACATGGCTGGACAGCATTCCCAGGGCATCTTTTTATTCACGCAGCATTGCACAGTTAAGACAAGGGGCCTCCCCATAGGCAGCGGTGGAGTCTTGCTCCCAGGGCCTCCTGCACAGGGCAGGAGGCAGGACAAAGACGCTGAGCTGGACAATGAATGAACAGGAACATATCACATTGCTGTGGCCACAGGCTGGCACAGGGCTGGAGAGGCAAGCCTGGCATGAAGCGGGTGGCCTGATAGGGAAGGGTCGCCCACTTAACAAATATATACTGAGCCTGACTGTATCAGACTGTGTTCTAGGCACTGGGAAAAGGGGGGTGAATAAGGCAGATCTGGCCTCCTTGTGAGCGAACATTCTAATGTGGGGAGACAAGCACATAAATCAGAAGATGCTGTTGGGACTGTGGAGGGCTCTGAAGGCAGTAAAGTGGGGTGATGTGAGGAAGAGGCGTGGGCGGCCTGCCCTGGAGGAGTGATCAGGGAGGAGGTGGGTGCACTTGCCTGACTCAAAGGAAGTGACCAGGTGCAGAGCTGGGGCTGCTCCTTTCCTGGTGGGTGGGGAGAACGTCAAGTGCAAAGGTTGGAGGCAGGAGTGAGCTTGGCATTTTTTTAGGAATGGAAAGAAAGCCACAGGGCATCGGGGGTGAGCAAGGCGAGGGTGGGAGGAGGTGAGGTCGTGGGCTTGGCAAGGACTAGATCCCATAGGGCTTGTGGGCCATGGCTTTGTTTAGAAACGCTTCACGGCAGAAGGTCCATTCTGGGTCAGGTTTGTGCGGAAAGTGGGGAGGTCATTCTTAGGGTGGGTGGAAGGAGCTCTGAGGGACGGTAAACAGACTCGCTGTTCTGAAAACAAACTGGGAGCTGGGCGTGTGGAGCGGCCCCGTGGTAATCTCTCTTCTACCACTTTTTCATGCCTTGCAGCACTTTGCCCATAGGGAGGAAGGGGAAGTGCCCCAGCTCGCTGTACATGGCCTGGCTGGAGACCCTGTCCCAGGACCTCAGACCTCCAGTCATCCTGATCCGAGGAAACCAGGAAAACGTGCTCACCTTTTACTGCCAGTAACTCCAGGCTTTGACATCCCTGTCCACAGCTCTGAGTGTGTGGGATAAGTTGGAACTTGATTGCCTCTAGTCCACAGGGATGAGACTCATGTTCTGTTGCACTTTAAGTGGCAGCATCTGATGATCTCACCGAAAAAGATGGTAGATTTCCAAATCTGGCTGGACTCCACTTCCATGGGACACATTCCCTGGGTCTTGTGTTTATAGGCTAGAGAAATAGCAGATGGAGCTGCAAGGAAAACTCTCTAAAGCATCCTATTCCTTTTAAAGGATTTCTTTTGATTTTGATGACCATTAATTAAGAGTTCAGTCTTTGATTTGTATGCAAATTGGAGTCCCAATGCTGGGCGTGAATCTTGACAGTTTCTACAGACCTTCCTGGGTGAAAGTTCCTAAATCATGCCCTGCTTCCTCCAATAGGAGAATGGGAGCCTCACCTGTAGGACCTACAGGCTCTCTAAGGAATGCAGGTCTCTCTCTGAGCCTCCACAGCCAGGCAAATACATATATATATATTTTTTTTTTAGATGAAGTTTTTTCTCTTGTTGCCCAGGCTAGGGTGTAATGGCATGATCTCAGGTCACTGCAACCTCCTCCCGGGTTCAAGCATTTCTTCTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCACCTGCCATCACACGAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTGTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGTGCTGGGGTTACAGGCCTGAGCCACTGCGCCCGGCCCAGGCAAATTTCTTGAACCACTTCTCACTCCCGTCACTTTCAATAAGGGGTCTTTGATGTCTTCACTGGTTCTTTGGACGAGGGACTTTTCGAACTTTTTTGGTTGCAACACACAGTAAGAAATATACTTCACACTGAGACTTGCAGCGCACACACACGGAAACGACCAAAACAAAAATGTCACAAAACAATACTTACCCTTCCCTGGGGGACGTCCTCCAGTATGTTCTGTTCTGTTTATTTTTCACTGTTGGTTGCAATCCAATAAAATGACTTTGGGATCCACTCATGGGTGGGGACCCACACATTTGAAAGGCATGGCCACCTTTCTGTTGTGCCTTGCATTTGTCCACACACAGGGAGTCTGGCTGAGCTGGGGAAAGGCCACGGCTGGGTGTCATTGCCATTTTCCCAGCTCATCTCACCGGGAAGAAAAGCAGATTGACAGAACACGTGAGGAGGGGTATTGATGGCAGGAGAGTCAAAAAAGAGTTTTAAAGAAGGGGCAAGGTTGAAGGAGTCTAGTGGCAAGGGTAAGATTTCAGGCATGGTTAAGAACAGACGACAAGGATGTCAGGAATGAAGATGTGGAGAGGGGTGTAGAGATGGCAAGGTTGGCAAGGAACAGATAGGCAGGAGCAGGTCCAAGCCAAGCCTAGCCCAAGACCAGGTGAAAGGAGAGGGGAGGAGGAGCCACCTGCAAGAGATGGAAAGAGCAGGCGGCAGAGGGGGCTGGCAGGGAGGGGCTGTTAAGAGTGGGGTTGGAGGTGGGAGAGAAGCTAGGACAAGGGAGATGGAGAAAGGACCTATACCTGGCTCACGGAAGGCCTTCAGGTCACTACACGTTGAACATCCCCAGTGTTTGAGCCCCCAAAGCTAGGGTGCAAGAGCACTGCCATCGAATGCCAGTGGGTGAGGCCAAGTGAGGGTATTTGCAGCTCTAGACATAACCAAGAAGCGTAAAGGTGAGTTGTTTGGTGGTACGACTGCCTGTGCCTTCTTCCGATGGCACTGGGGTGGCTGAAGGAACAGACATCTTTGGGTTTCATCAGCCTCCTCCAAGACTGCTGCAGTGCCTACACTTTAGACTTCAGAAGGAGACTAAAGACTTCTAGAATTTAGAAGGAGATCTGAAGTCTCCTTTCTGGAGTTACAACCCAAAGGATGTTAGCATTTCTCAGGTCATCCCACTGCAAAGCCCAGAAGGCTTGGGGCTCCCAGGCTGCTC
TTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCATGCCTGGCCCGGGACATTGCTTTTTAAAGGAGGGTAGGGCTTGTCCCAGGTGAAGCTTTGTGGATGGAACTTCCAAGTGTGACATAGCTGTTTAGTATCCCAGTTACCCTTCTCAGAGGAGGTTGGAGTTGCTGTGAGCAGAGGCTGCTGCGGAGGGAAGATGTCAAGACCTCGGTTCGAATTCCAGCTTTGCCGCCGCTGGCTTAGCTGTCGCGTGCTGGTCAGTACTAAGTGGTGATGACAGCTGCTGACCTTACAGAGCACTCACTGTGTGCCAGGCATTGTGCTGTGCCTGCGTGTGCTTTGCCTGTTTTAGCATCACAAACATCCTGCGAGGGAGGTTTTTGTGTTCTTGCTTTAGGGAAGAGAAACTCTGCAAAGGTCATCTGGCTGAGGAAGTGGCAAAGCCACGACTCGGACGCCAGAGACTGGCTCTGACCTCAGCGCTCCAGCATCCTCCTCCCGCCCCAGTTCTCCCACCTGTGAAGGAGCGCGGTGCTGCGGGCCCTGCCCATTCCCCAGGGGGATGTACTTGGGGAAAACAGACACTCAAGTGAGTCCCACGGAAGGTGCTGGTGCCCCCACTTCATGCGGCACCAGCTGGACCTGTGAGACACTGCTGGAGCCCACAGACCCTCCTGGAGCCCAGAGCTGGGCAGCTGTGGCCATCCCAATGCATTTTTGGAATTCTCCAGATAGTAGAAAAGTCACTTCCTGAAATAGTTGGAAGACATGGCTGGACAGCATTCCCAGGGCATCTTTTTATTCACGCAGCATTGCACAGTTAAGACAAGGGGCCTCCCCATAGGCAGCGGTGGAGTCTTGCTCCCAGGGCCTCCTGCACAGGGCAGGAGGCAGGACAAAGACGCTGAGCTGGACAATGAATGAACAGGAACATATCACATTGCTGTGGCCACAGGCTGGCACAGGGCTGGAGAGGCAAGCCTGGCATGAAGCGGGTGGCCTGATAGGGAAGGGTCGCCCACTTAACAAATATATACTGAGCCTGACTGTATCAGACTGTGTTCTAGGCACTGGGAAAAGGGGGGTGAATAAGGCAGATCTGGCCTCCTTGTGAGCGAACATTCTAATGTGGGGAGACAAGCACATAAATCAGAAGATGCTGTTGGGACTGTGGAGGGCTCTGAAGGCAGTAAAGTGGGGTGATGTGAGGAAGAGGCGTGGGCGGCCTGCCCTGGAGGAGTGATCAGGGAGGAGGTGGGTGCACTTGCCTGACTCAAAGGAAGTGACCAGGTGCAGAGCTGGGGCTGCTCCTTTCCTGGTGGGTGGGGAGAACGTCAAGTGCAAAGGTTGGAGGCAGGAGTGAGCTTGGCATTTTTTTAGGAATGGAAAGAAAGCCACAGGGCATCGGGGGTGAGCAAGGCGAGGGTGGGAGGAGGTGAGGTCGTGGGCTTGGCAAGGACTAGATCCCATAGGGCTTGTGGGCCATGGCTTTGTTTAGAAACGCTTCACGGCAGAAGGTCCATTCTGGGTCAGGTTTGTGCGGAAAGTGGGGAGGTCATTCTTAGGGTGGGTGGAAGGAGCTCTGAGGGACGGTAAACAGACTCGCTGTTCTGAAAACAAACTGGGAGCTGGGCGTGTGGAGCGGCCCCGTGGTAATCTCTCTTCTACCACTTTTTCATGCCTTGCAGCACTTTGCCCATAGGGAGGAAGGGGAAGTGCCCCAGCTCGCTGTACATGGCCTGGCTGGAGACCCTGTCCCAGGACCTCAGACCTCCAGTCATCCTGATCCGAGGAAACCAGGAAAACGTGCTCATCTTTTACTGCCAGTAACTCCAGGCTTTGACATCCCTGTCCACAGCTCTGAGTGTGTGGGATAAGTTGGAACTTGATTGCCTCTAGTCCACAGGGATGAGACTCATGTTCTGTTGCACTTTAAGTGGCAGCATCTGATGATCTCACCGAAAAAGATGGTAGATTTCCAAATCTGGCTGGACTCCACTTCCATGGGACACATTCCCTGGGTCTTGTGTTTATAGGCTAGAGAAATAGCAGATGGAGCTGCAAGGAAAACTCTCTAAAGCATCCTATTCCTTTTAAAGGATTTCTTTTGATTTTGATGACCATTAATTAAGAGTTCAGTCTTTGATTTGTATGCAAATTGGAGTCCCAATGCTGGGCGTGAATCTTGACAGTTTCTACAGACCTTCCTGGGTGAAAGTTCCTAAATCATGCCCTGCTTCCTCCAATAGGAGAATGGGAGCCTCACCTGTAGGACCTACAGGCTCTCTAAGGAATGCAGGTCTCTCTCTGAGCCTCCACAGCCAGGCAAATACATATATATATATTTTTTTTTTAGATGAAGTTTTTTCTCTTGTTGCCCAGGCTAGGGTGTAATGGCATGATCTCAGGTCACTGCAACCTCCTCCCGGGTTCAAGCATTTCTTCTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCACCTGCCATCACACGAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTGTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGTGCTGGGGTTACAGGCCTGAGCCACTGCGCCCGGCCCAGGCAAATTTCTTGAACCACTTCTCACTCCCGTCACTTTCAATAAGGGGTCTTTGATGTCTTCACTGGTTCTTTGGACGAGGGACTTTTCGAACTTTTTTGGTTGCAACACACAGTAAGAAATATACTTCACACTGAGACTTGCAGCGCACACACACGGAAACGACCAAAACAAAAATGTCACAAAACAATACTTACCCTTCCCTGGGGGACGTCCTCCAGTATGTTCTGTTCTGTTTATTTTTCACTGTTGGTTGCAATCCAATAAAATGACTTTGGGATCCACTCATGGGTGGGGACCCACACATTTGAAAGGCATGGCCACCTTTCTGTTGTGCCTTGCATTTGTCCACACACAGGGAGTCTGGCTGAGCTGGGGAAAGGCCACGGCTGGGTGTCATTGCCATTTTCCCAGCTCATCTCACCGGGAAGAAAAGCAGATTGACAGAACACGTGAGGAGGGGTATTGATGGCAGGAGAGTCAAAAAAGAGTTTTAAAGAAGGGGCAAGGTTGAAGGAGTCTAGTGGCAAGGGTAAGATTTCAGGCATGGTTAAGAACAGACGACAAGGATGTCAGGAATGAAGATGTGGAGAGGGGTGTAGAGATGGCAAGGTTGGCAAGGAACAGATAGGCAGGAGCAGGTCCAAGCCAAGCCTAGCCCAAGACCAGGTGAAAGGAGAGGGGAGGAGGAGCCACCTGCAAGAGATGGAAAGAGCAGGCGGCAGAGGGGGCTGGCAGGGAGGGGCTGTTAAGAGTGGGGTTGGAGGTGGGAGAGAAGCTAGGACAAGGGAGATGGAGAAAGGACCTATACCTGGCTCACGGAAGGCCTTCAGGTCACTACACGTTGAACATCCCCAGTGTTTGAGCCCCCAAAGCTAGGGTGCAAGAGCACTGCCATCGAATGCCAGTGGGTGAGGCCAAGTGAGGGTATTTGCAGCTCTAGACATAACCAAGAAGCGTAAAGGTGAGTTGTTTGGTGGTACGACTGCCTGTGCCTTCTTCCGATGGCACTGGGGTGGCTGAAGGAACAGACATCTTTGGGTTTCATCAGCCTCCTCCAAGACTGCTGCAGTGCCTACACTTTAGACTTCAGAAGGAGACTAAAGACTTCTAGAATTTAGAAGGAGATCTGAAGTCTCCTTTCTGGAGTTACAACCCAAAGGATGTTAGCATTTCTCAGGTCATCCCACTGCAAAGCCCAGAAGGCTTGGGGCTCCCAGGCTGCTC
Task1_train_22747
This genomic variant is located on Chromosome 16, within the RSPRY1 (ring finger and SPRY domain containing 1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
AGCCATTGCTGTCTTAATAGTGAAAACGTCTGTTGCCTCTCATTTCCTTTATCCTTTTCTTTCTCCTGTCTTGTTCCATCCCATTCCATTCTTTTCTCTCCCTTCCCTTTGCCTCCTCCCTCTTTATATATATTTTATTACATATGATTATATATATATATATATATATATATATATCTGAAGACTTTCTGTCTCCATTTTTCTCTTTTTCTTCTATGTTTTCCCTGTAGCAGTAATCAAACTGGGAAAATAAAAAGAATTTTGCCATGAATCTGTCTAAAATAATGGAAATAGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATAGCCTGAGGTCAGGAGTTTGTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAACTGGCTGGGTGTGGTGGCAGCACCTGTAGTCCCAGTTACTCGAGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCACTCCAGCCTGGGTGATAGAGCGAGACTCCTCAAAAATAAGTAAATAAATAAACAAATAAAATAATGGGAGTAATATTTCTCTTCTAATTCCACTGAATTATAAATTTTGTTTATATTATTCCTGGTCAGTGCTCAAGGTATGAGGAATTAATTGTAACTAGCCAGATGTTGTGTAGAGACTACACACTAGCATAGTCTATTCCTTATGTGGCCTGTTCTCCAGCTGTCAGCCTGTTTTGTTTGTTTGTTTGTTTTTTTACTTTTTGCTACCAGCCCATGTAAGTCTCCTATTTCTAAATCTTTACTTCCTTCCAGAATCTAACCAGATTTTACCAGCTTCTTGAAGAGCTGGTTCTTTCATTAGGTTTTTAATGATAAACATACTTTGTGGGATGAGAATGGCCATCCATGAATTCCTGGAGGGCAGGAACTATTCCTTACTCATCTTTATTCTCCTAGTCCAGCGTGGTACCTGGCACAAGGTCCTTAGTCAGTATTTTCAGGCAAAGATAAATTGGTGCATCTTATTCTGAACTTTGTAATAGACATGTGCAACAAACTGATCATTGTGAAAATACAACTTTTGTGATATCAGTTTTCCTTTCCCAAAACAAAGCCTTGCTTACATAACAGAAACACTTTGCAACAACTTGTATGAATTCTGTCAGTTCTTGAGTGAGCTTCCAATGGGAAACTCTATCCTTTTATTCTCCTTGATATCAAATGGTGCTATCATATTTGTATCATAACTTTTTTTTAACAACAAACGTCTGTAATTATTTTATTTAAAACTTGTTAAATTATCCTATGGGTTTAAAGAAAGGAGTTAATTCATTTTTTTAAAGATTTTTCTCTTTTTAACACCTACCTCTTACACAGAAAGACAACTCTTTTTTTATGATAAAAGGAGCCCTTGAAAAAAAATGCACACATCCTTCTAATGTATTTCTATATAGACAGGAAAAACTATACATGTGGTTTTAAAAAAATCAATGATAACTCCTCTGGTCTATAAGAATATGGTTTGGCAATCAACTTTGTAACAGAATGATAAAAAGAAATTATTGATTGATTGCGAATTCTGTTATCCAAAGCTATCTCTTTGTATTGGAAACCTATAAAAATAACCAAAGATAATTCTTCATTAGAATCCTAATATCTATAAAATCAGACTAGGAAAATTTGAGTAATTAAGTGGTCAAGAATCTTTTATTCATTTTCCTTTTTCTCATTTTCTTTTAGAACTGCCATTGGATGTCCAGAATCCCCTGTAGTTGATAATGTTGGGAATAAGCTCTGCAACTTTCTTTGGCATTCAGTTGTTAAAAACAAATAGGATGCAAATTCCTCAACTCCAGGTTATGAAAACAGTACTTGGAAAACTGAAAACTACCTAAATGATCGTCTTTGGTTGGGCCGTGTTCTTAGCGAGCAGAAGCCTTGGCCAGGGTCTGTTGTTGACTCTCGAAGAGCACATAGCCCACTTCCTAGGGACTGGAGGTGCCGCTACTACCATGGGTAATTCCTGTATCTGCCGAGATGACAGTGGAACAGATGACAGTGTTGACACCCAACAGCAACAGGCCGAGAACAGTGCAGTACCCACTGCTGACACAAGGAGCCAACCACGGGACCCTGTTCGGCCACCAAGGAGGGGCCGAGGACCTCATGAGCCAAGGAGAAAGAAACAAAATGTGGATGGGCTAGTGTTGGACACACTGGCAGTAATACGGACTCTTGTAGATAAGTAAGTATCTGACTCACGGTCACCTCCAGTGGAATGAAAAGTGTTCTGCCCGGAACCATGACTTTAGGACTCCTTCAGTTCCTTTAGGACATACTCGCCAAGCCTTGTGCTCACAGGGCAAAGGAGAATATTTTAATGCTCCGCTGATGGCAGAGTAAATGATAAGATTTGATGTTTTTGCTTGCTGTCATCTACTTTGTCTGGAAATGTCTAAATGTTTCTGTAGCAGAAAACACGATAAAGCTATGATCTTTATTAGAGAATAGAGTAAATATGGAGTGAGTTTATGTTGCTAGCTACAATAGGAAATGGTTTCATGAAGGCTCACTGTTAATGGTACATGCCTGTCTATTCCACTGACCTCAGATTCAAGGTAAGTTGTTTTACCAAGAACATGGCTACAGGCAACTTCTCTTGGCAACATAAGGACTAAGGTCAAGGAGAGTTTTCATTATCCTTTATTTGATCCTTTATCCCTTATTTGACTATCTTTAATCCATTTAGGAAGCTTGTCAGTTGATACTGCAAGGCACACCTGTACCTGTTTTGTCTTTTCCTCTGCTTTGTCTACCTCTAAATACAAAATCATAGATTGAATAACAGTGAAATTAAAGGGCATCCAAGTAGAAAAAAACATTTAACTTAAGGTTGTATATTTCAGTAGTTAAGAGCACAAAGCTTAGAACCATGATGGGCCTAGCTCAAGTTCTGGCCCAGTGCCTTACTAACTGCATGACATTGGGTAAGTTACTTCTTGAAGCCTCAGATTCCTCATCTGTAAATGGGGGGATAATATTGTTCCCACAAGGATTATCATGAGATAATGTACATAAGGCATTCAGTGTGGAGCTTTGTACTTAACAGTTGCTCAGTAGATGGTAGTATTTTTTAAAAAGTTACTTATGTGTTCTTTTTGCTTCAGGCCCTGCTAGTAAATTTAAGTATATAAACATTTGATAATCGCATTTATAGAAACCCAGTTTCGTTTAGTTCCTCAAAAATTAAGCATAAAACAGAGTGTACCTGTGAATACAAACGAATTTTTAGAGCTGTATTAAACTTTTCCATAAAATACTGGAGCATTTGTTAGTCTTCGAGAAGAATAATTTTTTGGCCAGACACAATGGCTCATACCTGTAATTCCAACACTTTTGAGAGGCTGAGGTAGAAAGATAGCTGGAGGCCAGGAGTTCAAGACCAGCCTAGGCAACATAGGGAGATCCCATCTCTGCAAAAAAAATTTAAAAATTATCCAGGTACAGTGGCACTTGCCTGTGATCCCAGCTACTCAGGATTCTAAGACCGGAGTACTGCTAGAGTCCAGGAGTTTCCAGCTGCAGTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCAATAGAGCAAGACCCTGTCTCAAAAATTAATTAATCAAAAAAAATTTTTTAAATCCCTTGTACCAAATTGTAATAAAAGTTATCCTTCCCAAATAAGGAAGTAAACCACAAACAATGTTAATTTAAGCTCATTGGAAAAATGGGTGCAGAATAGACTTTGAGAGAGAGAGTTTTTTTGTTTTGTTTTGTTTTTAAAGAGACAGGGTCTCACTTTGTCACCCAGGCTGGCGTACAGTGGCGTGATCATGACTCACTGCAGCCTCAGCCTCCTGGACTCAAACCATCCTCCCACCTCAGCCTCCTAAGTAGCTTGGACTACAGGCGTGTGCTACTGCACCTGGCTAATTTTTAAAAAAGTTTTTGTAGAGCCAGGTCTTGCCATGTTGCCCAGGCTGGTCTCAAATACCTGGACTCAAGCGATTGTCGAGCTTCAGCCTCCTTA
AGCCATTGCTGTCTTAATAGTGAAAACGTCTGTTGCCTCTCATTTCCTTTATCCTTTTCTTTCTCCTGTCTTGTTCCATCCCATTCCATTCTTTTCTCTCCCTTCCCTTTGCCTCCTCCCTCTTTATATATATTTTATTACATATGATTATATATATATATATATATATATATATATCTGAAGACTTTCTGTCTCCATTTTTCTCTTTTTCTTCTATGTTTTCCCTGTAGCAGTAATCAAACTGGGAAAATAAAAAGAATTTTGCCATGAATCTGTCTAAAATAATGGAAATAGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATAGCCTGAGGTCAGGAGTTTGTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAACTGGCTGGGTGTGGTGGCAGCACCTGTAGTCCCAGTTACTCGAGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCACTCCAGCCTGGGTGATAGAGCGAGACTCCTCAAAAATAAGTAAATAAATAAACAAATAAAATAATGGGAGTAATATTTCTCTTCTAATTCCACTGAATTATAAATTTTGTTTATATTATTCCTGGTCAGTGCTCAAGGTATGAGGAATTAATTGTAACTAGCCAGATGTTGTGTAGAGACTACACACTAGCATAGTCTATTCCTTATGTGGCCTGTTCTCCAGCTGTCAGCCTGTTTTGTTTGTTTGTTTGTTTTTTTACTTTTTGCTACCAGCCCATGTAAGTCTCCTATTTCTAAATCTTTACTTCCTTCCAGAATCTAACCAGATTTTACCAGCTTCTTGAAGAGCTGGTTCTTTCATTAGGTTTTTAATGATAAACATACTTTGTGGGATGAGAATGGCCATCCATGAATTCCTGGAGGGCAGGAACTATTCCTTACTCATCTTTATTCTCCTAGTCCAGCGTGGTACCTGGCACAAGGTCCTTAGTCAGTATTTTCAGGCAAAGATAAATTGGTGCATCTTATTCTGAACTTTGTAATAGACATGTGCAACAAACTGATCATTGTGAAAATACAACTTTTGTGATATCAGTTTTCCTTTCCCAAAACAAAGCCTTGCTTACATAACAGAAACACTTTGCAACAACTTGTATGAATTCTGTCAGTTCTTGAGTGAGCTTCCAATGGGAAACTCTATCCTTTTATTCTCCTTGATATCAAATGGTGCTATCATATTTGTATCATAACTTTTTTTTAACAACAAACGTCTGTAATTATTTTATTTAAAACTTGTTAAATTATCCTATGGGTTTAAAGAAAGGAGTTAATTCATTTTTTTAAAGATTTTTCTCTTTTTAACACCTACCTCTTACACAGAAAGACAACTCTTTTTTTATGATAAAAGGAGCCCTTGAAAAAAAATGCACACATCCTTCTAATGTATTTCTATATAGACAGGAAAAACTATACATGTGGTTTTAAAAAAATCAATGATAACTCCTCTGGTCTATAAGAATATGGTTTGGCAATCAACTTTGTAACAGAATGATAAAAAGAAATTATTGATTGATTGCGAATTCTGTTATCCAAAGCTATCTCTTTGTATTGGAAACCTATAAAAATAACCAAAGATAATTCTTCATTAGAATCCTAATATCTATAAAATCAGACTAGGAAAATTTGAGTAATTAAGTGGTCAAGAATCTTTTATTCATTTTCCTTTTTCTCATTTTCTTTTAGAACTGCCATTGGATGTCCAGAATCCCCTGTAGTTGATAATGTTGGGAATAAGCTCTGCAACTTTCTTTGGCATTCAGTTGTTAAAAACAAATAGGATGCAAATTCCTCAACTCCAGGTTATGAAAACAGTACTTGGAAAACTGAAAACTACCTAAATGATCGTCTTTGGTTGGGCCGTGTTCTTAGCGAGCAGAAGCCTTGGCCAGGGTCTGTTGTTGACTCTCGAAGAGCACATAGCCCACTTCCTAGGGACTGGAGGTGCCGCTACTACCATGTGTAATTCCTGTATCTGCCGAGATGACAGTGGAACAGATGACAGTGTTGACACCCAACAGCAACAGGCCGAGAACAGTGCAGTACCCACTGCTGACACAAGGAGCCAACCACGGGACCCTGTTCGGCCACCAAGGAGGGGCCGAGGACCTCATGAGCCAAGGAGAAAGAAACAAAATGTGGATGGGCTAGTGTTGGACACACTGGCAGTAATACGGACTCTTGTAGATAAGTAAGTATCTGACTCACGGTCACCTCCAGTGGAATGAAAAGTGTTCTGCCCGGAACCATGACTTTAGGACTCCTTCAGTTCCTTTAGGACATACTCGCCAAGCCTTGTGCTCACAGGGCAAAGGAGAATATTTTAATGCTCCGCTGATGGCAGAGTAAATGATAAGATTTGATGTTTTTGCTTGCTGTCATCTACTTTGTCTGGAAATGTCTAAATGTTTCTGTAGCAGAAAACACGATAAAGCTATGATCTTTATTAGAGAATAGAGTAAATATGGAGTGAGTTTATGTTGCTAGCTACAATAGGAAATGGTTTCATGAAGGCTCACTGTTAATGGTACATGCCTGTCTATTCCACTGACCTCAGATTCAAGGTAAGTTGTTTTACCAAGAACATGGCTACAGGCAACTTCTCTTGGCAACATAAGGACTAAGGTCAAGGAGAGTTTTCATTATCCTTTATTTGATCCTTTATCCCTTATTTGACTATCTTTAATCCATTTAGGAAGCTTGTCAGTTGATACTGCAAGGCACACCTGTACCTGTTTTGTCTTTTCCTCTGCTTTGTCTACCTCTAAATACAAAATCATAGATTGAATAACAGTGAAATTAAAGGGCATCCAAGTAGAAAAAAACATTTAACTTAAGGTTGTATATTTCAGTAGTTAAGAGCACAAAGCTTAGAACCATGATGGGCCTAGCTCAAGTTCTGGCCCAGTGCCTTACTAACTGCATGACATTGGGTAAGTTACTTCTTGAAGCCTCAGATTCCTCATCTGTAAATGGGGGGATAATATTGTTCCCACAAGGATTATCATGAGATAATGTACATAAGGCATTCAGTGTGGAGCTTTGTACTTAACAGTTGCTCAGTAGATGGTAGTATTTTTTAAAAAGTTACTTATGTGTTCTTTTTGCTTCAGGCCCTGCTAGTAAATTTAAGTATATAAACATTTGATAATCGCATTTATAGAAACCCAGTTTCGTTTAGTTCCTCAAAAATTAAGCATAAAACAGAGTGTACCTGTGAATACAAACGAATTTTTAGAGCTGTATTAAACTTTTCCATAAAATACTGGAGCATTTGTTAGTCTTCGAGAAGAATAATTTTTTGGCCAGACACAATGGCTCATACCTGTAATTCCAACACTTTTGAGAGGCTGAGGTAGAAAGATAGCTGGAGGCCAGGAGTTCAAGACCAGCCTAGGCAACATAGGGAGATCCCATCTCTGCAAAAAAAATTTAAAAATTATCCAGGTACAGTGGCACTTGCCTGTGATCCCAGCTACTCAGGATTCTAAGACCGGAGTACTGCTAGAGTCCAGGAGTTTCCAGCTGCAGTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCAATAGAGCAAGACCCTGTCTCAAAAATTAATTAATCAAAAAAAATTTTTTAAATCCCTTGTACCAAATTGTAATAAAAGTTATCCTTCCCAAATAAGGAAGTAAACCACAAACAATGTTAATTTAAGCTCATTGGAAAAATGGGTGCAGAATAGACTTTGAGAGAGAGAGTTTTTTTGTTTTGTTTTGTTTTTAAAGAGACAGGGTCTCACTTTGTCACCCAGGCTGGCGTACAGTGGCGTGATCATGACTCACTGCAGCCTCAGCCTCCTGGACTCAAACCATCCTCCCACCTCAGCCTCCTAAGTAGCTTGGACTACAGGCGTGTGCTACTGCACCTGGCTAATTTTTAAAAAAGTTTTTGTAGAGCCAGGTCTTGCCATGTTGCCCAGGCTGGTCTCAAATACCTGGACTCAAGCGATTGTCGAGCTTCAGCCTCCTTA
Task1_train_22748
A variant on Chromosome 16 in gene RSPRY1 (ring finger and SPRY domain containing 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
TTAGGAATGCAAGGATGGTACAATTACAGAAATCTTAGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGCCAGGAGTTTGAGACCAGCCTGGCCAAGACAGTGAAACCCCGTCTCTACTACAAATACAAAAAAAATTACCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAAAGAATTGCTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCACTGCACTCCAGCCCAGGCAAAGGCAGGTTTTTTTGAGATGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTACAGTGGTGTGATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCATGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTTGGATTACAGGCGCATGCCACCAGGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGCTCGAACTCCTGACCTAAAGTAATCCACCTGCCTTGGCCTCCGAAAAGTTCTGGGATTACAGGCATGAGTCACCATGCCCAGCCTACAATATAGAAATCTTTAATATAATTACTCAAATAGGCCAGAGGCAGGAGAGGGGCAGTTATCACTTCAAGAATGCTGAGAAAGCATTTGTTAAAATTCAATATCCATTCCTAATGGATGAAATACTACAAAACAGAAATGAATGGACTAAAACAATATAAAATAGGAATGGATGGATACTTCCATAACAATACAAAAAACACATATATTTCAGCCAAATGCTAGTATCTCTTTATTTTTTTATTTTTATTTATTTATTTATTTTTATTTATTTATTTATTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCCGAGCTCAAGTGATTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACCAGTGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAGCTAGCATCTTTTTAATGGTGACACATAGGAAGCATTTCAAGAGATGTTGGGAATAAGATAAGGATGCCTACTGTCACCACTATGACTTACAAAATACACAAAAATCAGTAGCTCTTCTAGCTATATGTATAATAGCAGCCAGTTAGAACATATAATTGAAGATCCCTTTTACCATGGTTAAAAAAAAAAGTGCTATCTAAGAATACATAGCAAGAAATATGTAGAGCGTATATGAAGAAAACTTTTAAACTACCAAAGAGTATAACAGAAGACTTAAATAAATGAGTCTCTTCTTGGATAGGAGGACCTCTCAGTATTGTAAAGGTGACAGTTTTCTCTAAACTCTAAGTTTAATTTGCTCAACATAAAAAGAGCAACATGATTTTTTTCTGGAACTTGACATGCTGATTTAAAAGTTTAAGGCAAGAAAATTCTGAAAGTTAGGGAGATGACAACCATACCACATCTTAAAATACATTAAAATAAATGTTAATAGTTTGGTCCCATTACTATATGACAAGAATGGCAGAATAATGGAATACAATAAAAGCCCAGAAATAGAACTAACTAAAAATGAAAATTTACCATATGACAAAGGCATTGTGTCAAAACTGTGGTGAAAGATGGACTGTTTGGTAAATGATTCTGGGATAAATGGCTAGCTTTCTGGGGAGAAATATTATATCCCTACCTATAAGTGCACATCTGTAAGTATATGCTGTGCACATATAGAGTGTCTGAAAGAATGCATATGAACTTTTTACTTGTTCCACAGACTAAGACAATTGAGGATCAGAAATGTAAGATTTACTTTTTATTTACATATTCATTTTTTTTAAACCATGTATAATTAGTAACCCTTTCAATGAACAAACTTGTTAACATTTTTGATTTAGTTGGCAGGCAGTTGGAGTTTGACCTTTTGAAGCATTAACTTGACTGACTTTTCTGTGTTTCTCCCCAGTGACCTGTGCATGGATTGTGCCTTGCAGCTGGAGACCTGCCCATTGTGTCGTAAAGAAATAGTATCTAGAATCAGACAGATTTCTCATATTTCATGACACATGTGAAGAGGCATCGTGGACTTTTTTCTACTCAATTCCAGCCAATGTTGAAAAGAAAAAGAAAAAAAAAACTCTCTAATCAGTTGTACACACATTGAAACTTATAGCCATGGCCAGATTTTATGCTAAAAATGGTAGTTTGTCAAAGACAAAATTCTCTTAGAATCTAATCCAACTTGCCAGCCCTGAGAAAATCCCTTTTAAGGCCAAGGAAAGCTGAATGCTAGCAGCCAGGCCTGTGGTACTTCCATGAGAAACCATAGCAGACAATGCCCTCCCAAGTACTGAAATCACACTGGAATCCCCCTTGTTGGGTTCATTTGATTGTTTAACACAGGATGTGTTGTGTCATTCTGAAGTTTTTATTTGGGGCAGAAGTCTTTATGGAGATGTAAATGACAGCGTTTCTGGGTTATGCATAACTTCTCACTGGTCAGAGACACCGGTGTGTCAAGCATGGATATTGCATTGCAAGACTTGAATCTATAAAAATTAGAATCACACAGTCAGTACTACAAGCAAAACAGAGAACCTGAAAGAAGGTGCACAGACTGTAAGAAAAAACCCAAGTTTGTGATATTTCAGTGATTCCAAAGAACATTCTAGGTTTTTTGTTTGTTTTTTTGTTTTTTGGGTTTTTTTTTTTTACTGCAGAAAATTGGTGGTATTTTCACATTCATAGTGTTTCTATCCAATTTCAGTACCCACATTTAATGAGGAAAAAATGTTTTACCAATGAAGGAGGAATTCTTAAATTAGCTGTAATGTTAGGTTGGAGAAAATTTGGTATTTAGGGTATTTTCAAGGTACCATCAAATCAGATTTCTGTTTTTTTGTTAAAAAAAATTTTTTTAATCAGTATTGTTTTTACAAGTAATATACTTTGAAACTCTTGAACTAATAGTCTCAAAAACTCTAGAGGACAGTCTGAGAACACGTATTTCTATTGTTCTAAATAAATACATGTTTTTGAATAGTTCAATCATGAATTATTGACTATGTCTTCATCAAAAGTGTTAATCCCTCTCAGGGTCTCTGGTGAAGACCTTCAAGAGTTTGGTTTTTTCTCCCAGGAAATTGGAAGGTAGAATTGTAAATTCATAGAACTTCTTTTATAATGGTGTACCTCAGCAGCTGCCTTTCAATTTATGCCAAGTCCTTACAGAGTTTATACTTGAATAGTAAATATGTCTTCTGAGTTTTACAGTGTCTTAAACTCAATGCACATTTTTTTTTCTTCTTTTTCCACCCCTTCTTGTTTGTAGTTCATTATACCTGTCCTATTACAGAACTGATTTCCTTCCTGGCTGTACATGTTGGGGTGCTGGATTTTTTTCCGTGTCTTTAGTCTTCCATAAATCCACACACACACACACACACAAAAAATATATATATATATAAATATATATGTAGGATACATGTTCTCTTCTTTAGCTTGTGGTGAATACAGTAATTTGCATTGAAGAATAAAACATCTGTTGCCTTTTTTGACTAAGATTTCACAACTTTCATTGGTGTATACTGCTAAGGTTCCAAGACATTATACTCTCAGACTTTAAGGGCTACTTTTGGGAGTAGGAGAGAATCAAGTATTAGAATTAAGAATAAGGCCACTTACTCATCCAGCAGATTGTTATTGAGCACCTAATATGTGCTGGGCACTGTGCCTATGTGGCATACAAAATATGCTTGTAGAGCTTATGTCTAATAAGCTTGTCTAATTATTGTCTATTATTATGTCTAACAGTAATTTGGAAGTGGTCCAGCTGAGACTAAAGGTAGTCTGTACATTTAGTAGAGAGAGGGAAAAATAGATGGAATTAATAGATAATTTGCGAGGCAAAGGAATGCAGGAGCCTAACAGCTTTCTAAAAATCTACCCTTGAAGTTTGTTCCTAAGGTGGGGAGAAGACAATATATTTGTGTTTATTGTAACAGATTTTTAGTGGAAAAGAATAGGGTCCT
TTAGGAATGCAAGGATGGTACAATTACAGAAATCTTAGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGCCAGGAGTTTGAGACCAGCCTGGCCAAGACAGTGAAACCCCGTCTCTACTACAAATACAAAAAAAATTACCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAAAGAATTGCTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCACTGCACTCCAGCCCAGGCAAAGGCAGGTTTTTTTGAGATGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTACAGTGGTGTGATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCATGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTTGGATTACAGGCGCATGCCACCAGGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGCTCGAACTCCTGACCTAAAGTAATCCACCTGCCTTGGCCTCCGAAAAGTTCTGGGATTACAGGCATGAGTCACCATGCCCAGCCTACAATATAGAAATCTTTAATATAATTACTCAAATAGGCCAGAGGCAGGAGAGGGGCAGTTATCACTTCAAGAATGCTGAGAAAGCATTTGTTAAAATTCAATATCCATTCCTAATGGATGAAATACTACAAAACAGAAATGAATGGACTAAAACAATATAAAATAGGAATGGATGGATACTTCCATAACAATACAAAAAACACATATATTTCAGCCAAATGCTAGTATCTCTTTATTTTTTTATTTTTATTTATTTATTTATTTTTATTTATTTATTTATTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCCGAGCTCAAGTGATTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACCAGTGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAGCTAGCATCTTTTTAATGGTGACACATAGGAAGCATTTCAAGAGATGTTGGGAATAAGATAAGGATGCCTACTGTCACCACTATGACTTACAAAATACACAAAAATCAGTAGCTCTTCTAGCTATATGTATAATAGCAGCCAGTTAGAACATATAATTGAAGATCCCTTTTACCATGGTTAAAAAAAAAAGTGCTATCTAAGAATACATAGCAAGAAATATGTAGAGCGTATATGAAGAAAACTTTTAAACTACCAAAGAGTATAACAGAAGACTTAAATAAATGAGTCTCTTCTTGGATAGGAGGACCTCTCAGTATTGTAAAGGTGACAGTTTTCTCTAAACTCTAAGTTTAATTTGCTCAACATAAAAAGAGCAACATGATTTTTTTCTGGAACTTGACATGCTGATTTAAAAGTTTAAGGCAAGAAAATTCTGAAAGTTAGGGAGATGACAACCATACCACATCTTAAAATACATTAAAATAAATGTTAATAGTTTGGTCCCATTACTATATGACAAGAATGGCAGAATAATGGAATACAATAAAAGCCCAGAAATAGAACTAACTAAAAATGAAAATTTACCATATGACAAAGGCATTGTGTCAAAACTGTGGTGAAAGATGGACTGTTTGGTAAATGATTCTGGGATAAATGGCTAGCTTTCTGGGGAGAAATATTATATCCCTACCTATAAGTGCACATCTGTAAGTATATGCTGTGCACATATAGAGTGTCTGAAAGAATGCATATGAACTTTTTACTTGTTCCACAGACTAAGACAATTGAGGATCAGAAATGTAAGATTTACTTTTTATTTACATATTCATTTTTTTTAAACCATGTATAATTAGTAACCCTTTCAATGAACAAACTTGTTAACATTTTTGATTTAGTTGGCAGGCAGTTGGAGTTTGACCTTTTGAAGCATTAACTTGACTGACTTTTCTGTGTTTCTCCCCAGTGACCTGTGCATGGATTATGCCTTGCAGCTGGAGACCTGCCCATTGTGTCGTAAAGAAATAGTATCTAGAATCAGACAGATTTCTCATATTTCATGACACATGTGAAGAGGCATCGTGGACTTTTTTCTACTCAATTCCAGCCAATGTTGAAAAGAAAAAGAAAAAAAAAACTCTCTAATCAGTTGTACACACATTGAAACTTATAGCCATGGCCAGATTTTATGCTAAAAATGGTAGTTTGTCAAAGACAAAATTCTCTTAGAATCTAATCCAACTTGCCAGCCCTGAGAAAATCCCTTTTAAGGCCAAGGAAAGCTGAATGCTAGCAGCCAGGCCTGTGGTACTTCCATGAGAAACCATAGCAGACAATGCCCTCCCAAGTACTGAAATCACACTGGAATCCCCCTTGTTGGGTTCATTTGATTGTTTAACACAGGATGTGTTGTGTCATTCTGAAGTTTTTATTTGGGGCAGAAGTCTTTATGGAGATGTAAATGACAGCGTTTCTGGGTTATGCATAACTTCTCACTGGTCAGAGACACCGGTGTGTCAAGCATGGATATTGCATTGCAAGACTTGAATCTATAAAAATTAGAATCACACAGTCAGTACTACAAGCAAAACAGAGAACCTGAAAGAAGGTGCACAGACTGTAAGAAAAAACCCAAGTTTGTGATATTTCAGTGATTCCAAAGAACATTCTAGGTTTTTTGTTTGTTTTTTTGTTTTTTGGGTTTTTTTTTTTTACTGCAGAAAATTGGTGGTATTTTCACATTCATAGTGTTTCTATCCAATTTCAGTACCCACATTTAATGAGGAAAAAATGTTTTACCAATGAAGGAGGAATTCTTAAATTAGCTGTAATGTTAGGTTGGAGAAAATTTGGTATTTAGGGTATTTTCAAGGTACCATCAAATCAGATTTCTGTTTTTTTGTTAAAAAAAATTTTTTTAATCAGTATTGTTTTTACAAGTAATATACTTTGAAACTCTTGAACTAATAGTCTCAAAAACTCTAGAGGACAGTCTGAGAACACGTATTTCTATTGTTCTAAATAAATACATGTTTTTGAATAGTTCAATCATGAATTATTGACTATGTCTTCATCAAAAGTGTTAATCCCTCTCAGGGTCTCTGGTGAAGACCTTCAAGAGTTTGGTTTTTTCTCCCAGGAAATTGGAAGGTAGAATTGTAAATTCATAGAACTTCTTTTATAATGGTGTACCTCAGCAGCTGCCTTTCAATTTATGCCAAGTCCTTACAGAGTTTATACTTGAATAGTAAATATGTCTTCTGAGTTTTACAGTGTCTTAAACTCAATGCACATTTTTTTTTCTTCTTTTTCCACCCCTTCTTGTTTGTAGTTCATTATACCTGTCCTATTACAGAACTGATTTCCTTCCTGGCTGTACATGTTGGGGTGCTGGATTTTTTTCCGTGTCTTTAGTCTTCCATAAATCCACACACACACACACACACAAAAAATATATATATATATAAATATATATGTAGGATACATGTTCTCTTCTTTAGCTTGTGGTGAATACAGTAATTTGCATTGAAGAATAAAACATCTGTTGCCTTTTTTGACTAAGATTTCACAACTTTCATTGGTGTATACTGCTAAGGTTCCAAGACATTATACTCTCAGACTTTAAGGGCTACTTTTGGGAGTAGGAGAGAATCAAGTATTAGAATTAAGAATAAGGCCACTTACTCATCCAGCAGATTGTTATTGAGCACCTAATATGTGCTGGGCACTGTGCCTATGTGGCATACAAAATATGCTTGTAGAGCTTATGTCTAATAAGCTTGTCTAATTATTGTCTATTATTATGTCTAACAGTAATTTGGAAGTGGTCCAGCTGAGACTAAAGGTAGTCTGTACATTTAGTAGAGAGAGGGAAAAATAGATGGAATTAATAGATAATTTGCGAGGCAAAGGAATGCAGGAGCCTAACAGCTTTCTAAAAATCTACCCTTGAAGTTTGTTCCTAAGGTGGGGAGAAGACAATATATTTGTGTTTATTGTAACAGATTTTTAGTGGAAAAGAATAGGGTCCT
Task1_train_22749
A variant was discovered in gene COQ9, LOC112469007 (coenzyme Q9| Sharpr-MPRA regulatory region 5957), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
AAAACATAAAATTAACTAACTGAAGCTCTTGTGCACATACATGTCACTGCCTGGCCTCTGGGTGACCAGTACCAAGTGGGCCTAACCAGCCTGCTGTGCAATCCAAGTCAGCCATTGCCCCTCTCTGGGCCTCAGTTTCCCTGCCAGCTTTAGCAGAATGGTAGGAAGGCACAATTACAACCTGCAAATGAGACCTAAGAAACCTACTATGTGCCTGTCCCTACACGGGAGACAGACAAGAAGACACTTGTTCCCTGCCCTCAAGAGAACGCTCTGTCTAGACACTTAGACTAAGACCTTAGAGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGCAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCGACTCCGGGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCACCCACCACCACACCCAGCTAATTTTTGTATTCTTTGTAGAGATGCGGTTTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAAGTGATCCACACGCCGCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCTGGCCCAGAATTTTTTTTAAAAAGTGAGAATCAACAATGAAACAGGAACGTCTCCAGGCATTTGGCGTGTGTCAGGAATTAGGGTTTCAGAAAGGATACCCAAATGTTAGTTTCCACAGGAAAGGCTCATTCAAAGATGGATGGATAGAACTCAGAAACAAATCCTTATGGAGAGGAGTGTTTTACCTAAAACCAGAAATATGGATCTAAAATTTTAACCTTTGGGGTAAGTTTTGGCTTAGGAGGTCTTCCCCGCACCCGTGCAGGGGGGAGCCGGATATTCTGAAAAGACTAGATTTGACAAGGGGTGTGCAAAGCACAACTTTAACAGACACAATGATGGGGTCTGACTGCAAACACAAAATCGACAGAATCACATGCTCTTGTCGTCAGTTACTCTTAGCCCAAAAACCGTTTACTTCTTCCTACTAAGCCTTCTCTGATGACACCCCCGTGAAGTGCTCTGTTAGTGGCTAGACCGTGACCTCCTTGAGCCATCCAGAGCTTGGCACTCAGTAATGTCAGAATGAAGGGCACCAGCCTTTCCCGAACTTGCAGATCCTACAAATCACCCGAGGGAGTGGTTAAAATGAGATTCCTGGACCACACCCAGACCCACTCAATCAATCCTTCTGGACAAAGGCCTAGCTGTCTGTTCTAGTAACAAGCATCCTTCCGATCTGGATACTTAATTATATCAACTCAACACGCTGGGGGTTCGGACAAGTTGCAGGTTCGAAATTACAATCGTGAGCTCAGGTACCCCCCGACTCCAAGGCTTTCGTGCTTTGCTGCCAGGAACCCCCAGGGACCAAAACGTCACGGGGACTGAGGCCCAAGGTCACAACGATTGGCTACTGGTAGGACCGGGTCTCAGAACCAGGTCTCCCCGATCCCAAGCTCGGAGCCGTTTCTCCTCAGCGTGGTGTCCCCGGGGCCTCAGAGTAGGGCCGGCTGCGCAAGGGACGAGGCAGCCGGGGAACGGCAGAAATTCCCAGTCAGGACCCCAGGGAGGTTAGGGCCGGCCCTGGCCCCTCACACCGACTTCTCAGGAATAAACCAGCCGGGGCTTTCAGCGGGGCGGCCGTGGCTGCGTTCCCATCGAGGAACGGGGTGGGAAGAGAAAATGAGAGGATGTGGGAACGAGGGTGGGCCGGGAGGGGACAGTTGAGGGAGCTCTGGCGCTCAGCTGGCCCCCACCACTCTCACCTGCCGCCTGGGCTCGCTCCCGGCTTCTCTCCAGCCGTCGACTCCACGCCTTGCGCCTCTCGCGAGAGGAGGAGGCTCCACGGAGCGACGACTTCCGCCCTCCTTAGGGCCGTGGTCCCGTAGCTACCGGTCGCGTCGCCGTGGGCGACGTGCCCGCTTCCAAAATGGCGGCGGCGGCGGTATCTGGTGCGCTTGGCCGGGCGGGCTGGAGGCTCCTGCAGCTGCGATGCCTGCCCGGTGAGGGGGCTGCCAAGCCGGGGAGAGGCGGGGAGCGCGGAGGGGGCGCGAGGCCGGCTTCAGCTGGGTTCGACGGTGGGGGGAAGAGGCCGTTGGGGCGGCCCACGAGCAAGGTGAGGTGAAGGGCATCGGCGCGGGCTCGGGCGAGCCGCCTGGCTAGCTTCGGCCCTGCTCCGCTGTCTGTGAGGGGCAGATGCAGCGGGGCAGGGCCTGTCACCCCCATTTCATGGAGTTGGCAGAGCCTCAGAGAGGGCTCGGGGTACGAAAGTCACGCAGCCTGAGCCTGTTGGTTACAGAACTGGCAGTCGCAGACCCATTCTCAAGTCCATTGCCAAGTCCACTGGAAGGACAGGTGGACACGGCCACAGAGAGCCTAGTCCATTGTTTCCCGAAAGCCAGCCGTTTCCTCACCACTTCACGAATTCTGTGATACTCTCTTACCACCTTTGCCACTATGTACTCAGTATTTTTATTTTTAAATAGGAGTTCTTAAAGAGGAAACTTTATATCATTGTCATAAATGGAAAACTAATATCGCCTTCCTTAATTAGAACGTATGCATTAACACTTTAGCATACATACATAACTGATGAAACGTTCACCTGTATTTCACCTAAAATCTTCTCATGACCCTCAGTGGTACTACAGTCATACTTTGCATCTGCTCCTTCCTTTTCAAAGTTTTGCGGATATTTGTGCCGTATCTTTCAGTACATGTATTAAAATATTGATATTTTGGCACATACTATTCTGTTTCTTTTTTTTCTTTTTTTTTTTTTTCTGAGACAGGGTCTGGCTCCTCAGCCTCCCAAGGAGCTGGGACTACAAGTGCGTGCCACCCTACTTGGCTTAATTTTGTTGTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAGCCTCTACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGGGGTTGTGCCACCATGCCCAGCTAATTTTTTATTTTTAGTAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCCAAAACTCCTGACCTCAAGTTATCTGCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCCACCGCCTAGCCCCCTTTTGTTGTATTTATACAAAATTCCAAACTAAAGATGTGTAGTAAAAGTAATGTCTATGACCCCGCAAATCCACCAAGAGAAATGAAGGTATGTGTCTACAAAAAAGTTAGTACAAGTATATTCATAGCAATTTTATTCATAGTAGCCAAACACAGAAACAGTCCAGTTGTCTAGCAACAGAATAGTATTTTTTTTATGGAATACTATTCTGCAATAAAAACTAAAAATCAGTCAAAGAGAAAGCTGGACACTAAAGTGATAAGGACCATTTTTAATCAGTAATAACTATTGCAATAGGGAAAAGAGTCTAGCATGAACGGAGCCCAACCTTGAGTTTAGAGCATGCAGAAGTCACTGGGTGTTTCAAAGAAAAAATGAGGGAGGAGGGAGGAAGGCAGGTGGGGACTCAGTAGAGTCAGGATAGTGAATAATTATAAATAAGATTGGTCTGCTAGCTGGCAGTTAACAAAGTTAGGATTCTGTTTTCCCACAGGGAGACAAGCCCTATCCTTCTTAAGTGTTAGCCTGAACAAACAGTAAAATTTTTTTTGACAGCCTTGAGTTTTCTCAGGCAGGCACTTTAAAGGGGGGTAGGGTTATCTTAAGGGATGTGGCCCTGAGTGATGCTTATGTTAGTGTGTGTTCAAGTCTTTATAGGCCAAGGTTGAGGCCTAGATAAGAAGAGGGCTCAGAGGAGCCTGGTTAGAGCCTGATCAAGGAGAGAATCTTTGCCAGATATACTGATAGGCATAAAAATATGGATCAATCTCAAAAATATACTAAGTGGTCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGGTTGCTTGAGCCGAGGAGTTCAAGACCATCTTGGGCAACATAGCAAGACTCTGTCTCTATTTAAAC
AAAACATAAAATTAACTAACTGAAGCTCTTGTGCACATACATGTCACTGCCTGGCCTCTGGGTGACCAGTACCAAGTGGGCCTAACCAGCCTGCTGTGCAATCCAAGTCAGCCATTGCCCCTCTCTGGGCCTCAGTTTCCCTGCCAGCTTTAGCAGAATGGTAGGAAGGCACAATTACAACCTGCAAATGAGACCTAAGAAACCTACTATGTGCCTGTCCCTACACGGGAGACAGACAAGAAGACACTTGTTCCCTGCCCTCAAGAGAACGCTCTGTCTAGACACTTAGACTAAGACCTTAGAGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGCAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCGACTCCGGGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCACCCACCACCACACCCAGCTAATTTTTGTATTCTTTGTAGAGATGCGGTTTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAAGTGATCCACACGCCGCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCTGGCCCAGAATTTTTTTTAAAAAGTGAGAATCAACAATGAAACAGGAACGTCTCCAGGCATTTGGCGTGTGTCAGGAATTAGGGTTTCAGAAAGGATACCCAAATGTTAGTTTCCACAGGAAAGGCTCATTCAAAGATGGATGGATAGAACTCAGAAACAAATCCTTATGGAGAGGAGTGTTTTACCTAAAACCAGAAATATGGATCTAAAATTTTAACCTTTGGGGTAAGTTTTGGCTTAGGAGGTCTTCCCCGCACCCGTGCAGGGGGGAGCCGGATATTCTGAAAAGACTAGATTTGACAAGGGGTGTGCAAAGCACAACTTTAACAGACACAATGATGGGGTCTGACTGCAAACACAAAATCGACAGAATCACATGCTCTTGTCGTCAGTTACTCTTAGCCCAAAAACCGTTTACTTCTTCCTACTAAGCCTTCTCTGATGACACCCCCGTGAAGTGCTCTGTTAGTGGCTAGACCGTGACCTCCTTGAGCCATCCAGAGCTTGGCACTCAGTAATGTCAGAATGAAGGGCACCAGCCTTTCCCGAACTTGCAGATCCTACAAATCACCCGAGGGAGTGGTTAAAATGAGATTCCTGGACCACACCCAGACCCACTCAATCAATCCTTCTGGACAAAGGCCTAGCTGTCTGTTCTAGTAACAAGCATCCTTCCGATCTGGATACTTAATTATATCAACTCAACACGCTGGGGGTTCGGACAAGTTGCAGGTTCGAAATTACAATCGTGAGCTCAGGTACCCCCCGACTCCAAGGCTTTCGTGCTTTGCTGCCAGGAACCCCCAGGGACCAAAACGTCACGGGGACTGAGGCCCAAGGTCACAACGATTGGCTACTGGTAGGACCGGGTCTCAGAACCAGGTCTCCCCGATCCCAAGCTCGGAGCCGTTTCTCCTCAGCGTGGTGTCCCCGGGGCCTCAGAGTAGGGCCGGCTGCGCAAGGGACGAGGCAGCCGGGGAACGGCAGAAATTCCCAGTCAGGACCCCAGGGAGGTTAGGGCCGGCCCTGGCCCCTCACACCGACTTCTCAGGAATAAACCAGCCGGGGCTTTCAGCGGGGCGGCCGTGGCTGCGTTCCCATCGAGGAACGGGGTGGGAAGAGAAAATGAGAGGATGTGGGAACGAGGGTGGGCCGGGAGGGGACAGTTGAGGGAGCTCTGGCGCTCAGCTGGCCCCCACCACTCTCACCTGCCGCCTGGGCTCGCTCCCGGCTTCTCTCCAGCCGTCGACTCCACGCCTTGCGCCTCTCGCGAGAGGAGGAGGCTCCACGGAGCGACGACTTCCGCCCTCCTTAGGGCCGTGGTCCCGTAGCTACCGGTCGCGTCGCCGTGGGCGACGTGCCCGCTTCCAAAATGGCGGCGGCGGCGGTATCTGGTGCGCTTGGCCGGGCGGGCTGGAGGCTCCTGCAGCTGCGATGCCTGCCCAGTGAGGGGGCTGCCAAGCCGGGGAGAGGCGGGGAGCGCGGAGGGGGCGCGAGGCCGGCTTCAGCTGGGTTCGACGGTGGGGGGAAGAGGCCGTTGGGGCGGCCCACGAGCAAGGTGAGGTGAAGGGCATCGGCGCGGGCTCGGGCGAGCCGCCTGGCTAGCTTCGGCCCTGCTCCGCTGTCTGTGAGGGGCAGATGCAGCGGGGCAGGGCCTGTCACCCCCATTTCATGGAGTTGGCAGAGCCTCAGAGAGGGCTCGGGGTACGAAAGTCACGCAGCCTGAGCCTGTTGGTTACAGAACTGGCAGTCGCAGACCCATTCTCAAGTCCATTGCCAAGTCCACTGGAAGGACAGGTGGACACGGCCACAGAGAGCCTAGTCCATTGTTTCCCGAAAGCCAGCCGTTTCCTCACCACTTCACGAATTCTGTGATACTCTCTTACCACCTTTGCCACTATGTACTCAGTATTTTTATTTTTAAATAGGAGTTCTTAAAGAGGAAACTTTATATCATTGTCATAAATGGAAAACTAATATCGCCTTCCTTAATTAGAACGTATGCATTAACACTTTAGCATACATACATAACTGATGAAACGTTCACCTGTATTTCACCTAAAATCTTCTCATGACCCTCAGTGGTACTACAGTCATACTTTGCATCTGCTCCTTCCTTTTCAAAGTTTTGCGGATATTTGTGCCGTATCTTTCAGTACATGTATTAAAATATTGATATTTTGGCACATACTATTCTGTTTCTTTTTTTTCTTTTTTTTTTTTTTCTGAGACAGGGTCTGGCTCCTCAGCCTCCCAAGGAGCTGGGACTACAAGTGCGTGCCACCCTACTTGGCTTAATTTTGTTGTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAGCCTCTACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGGGGTTGTGCCACCATGCCCAGCTAATTTTTTATTTTTAGTAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCCAAAACTCCTGACCTCAAGTTATCTGCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCCACCGCCTAGCCCCCTTTTGTTGTATTTATACAAAATTCCAAACTAAAGATGTGTAGTAAAAGTAATGTCTATGACCCCGCAAATCCACCAAGAGAAATGAAGGTATGTGTCTACAAAAAAGTTAGTACAAGTATATTCATAGCAATTTTATTCATAGTAGCCAAACACAGAAACAGTCCAGTTGTCTAGCAACAGAATAGTATTTTTTTTATGGAATACTATTCTGCAATAAAAACTAAAAATCAGTCAAAGAGAAAGCTGGACACTAAAGTGATAAGGACCATTTTTAATCAGTAATAACTATTGCAATAGGGAAAAGAGTCTAGCATGAACGGAGCCCAACCTTGAGTTTAGAGCATGCAGAAGTCACTGGGTGTTTCAAAGAAAAAATGAGGGAGGAGGGAGGAAGGCAGGTGGGGACTCAGTAGAGTCAGGATAGTGAATAATTATAAATAAGATTGGTCTGCTAGCTGGCAGTTAACAAAGTTAGGATTCTGTTTTCCCACAGGGAGACAAGCCCTATCCTTCTTAAGTGTTAGCCTGAACAAACAGTAAAATTTTTTTTGACAGCCTTGAGTTTTCTCAGGCAGGCACTTTAAAGGGGGGTAGGGTTATCTTAAGGGATGTGGCCCTGAGTGATGCTTATGTTAGTGTGTGTTCAAGTCTTTATAGGCCAAGGTTGAGGCCTAGATAAGAAGAGGGCTCAGAGGAGCCTGGTTAGAGCCTGATCAAGGAGAGAATCTTTGCCAGATATACTGATAGGCATAAAAATATGGATCAATCTCAAAAATATACTAAGTGGTCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGGTTGCTTGAGCCGAGGAGTTCAAGACCATCTTGGGCAACATAGCAAGACTCTGTCTCTATTTAAAC
Task1_train_22750
Given this variant in gene ADGRG1 (adhesion G protein-coupled receptor G1) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; not provided
GGTCATGATAGGAAGCGCCCTTCCCCTCTGGCTCCTGTAGAGGGCGTCGCGGATGCATTGATCCTTTAGTTCCTTCACTGTCCATCCCCACAGCCTTTATCCAGCAACCTCTGTACAGCCAGGGCCTGCCCACAGAGATGGATCAGGTGCTCCCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTAGAACCCTCATGCCAGATTCTAGATAAGATAATCCCGTCACTCTGGGTTCAGGAGGGAGGTACTACGATTAGCCCGATTTTGAGTGACTTACACAAGGTCCTGCAGCGGGCAAAAGGTGGAACTGAGACTGGAACTCAGCTGGACTCTGGACAGCCACTCCCCCGCCTTTTTTTTTTTAAAGCAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAGTTATAGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGTGATCCTTCCACCTCAGCCTCCCTAGTAGCTGGGACCACAGGCATACACCGCCATGCCTGGCTAATTTTGTTTATTTATTGTAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCTGAATTCCTGTGCTCAAGCGATCCTCCTTTCTCAGCCTCCCAAAGCGCTGGGATTACAGACATAAGTCACCACGCCTGGCCTCACTGCCTCTTGGGGAGCGGCCTCTGGCCGCTCTGGGGAGGTCCATGGGCTTTTTCCACACTTGCTTCCCCACCTCACCTCCCACATCCATGCCACACTGGCCTCCTCTTCTGCAGGGCCAGCCCAACCACCACACAGTCCACACTCCCAGCTAACACTCCTGGTCTCTTCCAGGTGGTGACTTCCAAGAGTGACTCCGTCGGAGGAAAATGACTCCCCAGTCGCTGCTGCAGACGACACTGTTCCTGCTGAGTCTGCTCTTCCTGGTCCAAGGCAGGTCTTCCCAGGGGTGCCCTGGGCTGTTGGAACTTACGTTAAAATGCCCCTGTGCCTAGGGTGGCTGCCAGCACACATGCTAACTCCTTTAGGCAGTTACAGCTCGGCTAGTGGAGGGTACCTTGGAGAAAAGCAAAAGACACTCCTTCCTTCTGGCAGGTGCAGCCCTGCAGTGCACAGCTTAGGGTATGGAATATGGATGGGGTACTGGCCCCACTCACCTCTGCAGCCAGAGCATTCTTGTGCAGTGTACCACCTGCACAACCGTCTATGTCAGCCATGGCCTCATTAAATACTTCATTGCTGTTAAAAATATGTTTTCCCCTTGAAATTACTATTCGTTTTCAGTTTCCTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAGTTTCCTCTTTTTATAGTTTGATGCTGATAAGTTTTGAGTGGGAAAGACTAACACATTTTTGTAGACCCTTGGAATGTGTGTGAATCTCAGGCTCCAGGTTCACATGTACTCAGCCTAGGTCCTGTCCCCTTCCATGCCTCTGGTCAGCCCCTGCCACGGGGTCCCATCTGCAGCCTCTGCCTCCTCAGGTGCCCACGGCAGGGGCCACAGGGAAGACTTTCGCTTCTGCAGCCAGCGGAACCAGACACACAGGAGCAGCCTCCACTACAAACCCACACCAGACCTGCGCATCTCCATCGAGAACTCCGAAGAGGCCCTCACAGTCCATGCCCCTTTCCCTGCAGCCCACCCTGCTTCCCGATCCTTCCCTGACCCCAGGGGCCTCTACCACTTCTGCCTCTACTGGAACCGACATGCTGGGAGATTACATCTTCTCTATGGCAAGCGTGACTTCTTGCTGAGTGACAAAGCCTCTAGCCTCCTCTGCTTCCAGCACCAGGAGGAGAGCCTGGCTCAGGGCCCCCCGCTGTTAGCCACTTCTGTCACCTCCTGGTGGAGCCCTCAGAACATCAGCCTGCCCAGTGCCGCCAGCTTCACCTTCTCCTTCCACAGTAAGGCAACTTCCAGGCGGAGGGAACAACTGGGCAGTGGTCTAGAGGCAGGGAAGGCAAAATGCAAAGTGGACTGGGCTCACAATATCAGATCATGAAGACTGGGCTTTGCTCACAGGCACTGGGGAGCCAGTGAAGGTGTCTGAGGAGGGGAGGAGTGTAATCCAAGTGCTAGGATTACAGGCATGAACCACTGCGCTCGGCCCCACTGTCCCTTGATGGTTACTTTGTGGGCAGGCAGGGGTGAGGATGGAAGGGCAAGGGCCCGTCCTGAGGCTGCAGAGAAGGTCTTGGTGAAGGAGGATGAGGTCTGAATAGGGTGAGAGAGCAGAGACTGGAAAGGGACTGAAGATCAAGAGCCCCAGGAAGAATTCTTCCTCAGCATCAGTGTAGACTGTTTATTTCCTTTCACAGAGGAGGAAACTGGGGCACAGAGAGGATGCCCAAAGCTGCACAGCTAGCCAATGGGAGAGCCAGGATTTGAACCCAGCAGCTGATTGGAGTGGGGTAGGGGTGAGGGGCGGAGTATGAGAGGTCAAAGGTCAGGAAAGCAGTGGGGTTGACTCTGAGGTCCAGAAGCTGCATCTTCCCCCTTGAGTGTGACAGGTACATGTGGCCACTGCCATTCAGCACCATTAAATGCTGAATGGTGGCCAGGAAGGGAGGAGCATCAGAAGGAGCTTGAAGGTTTACTGGGGGGTTTTCATGTCTTTCCAGCACCTCAAGTTTGAGGCAGGGCTTTCAGGGGTGGGGGGCACAGCACTTTGATTGTGTCAGTGTAACAGGCTAATGATTATGTCCAGTGCAACAGGCAGGCCCAGGCCCGTCAGTGGTGGGGGGTTCCCCACACCCCAGGCTGGGATTCTGCCCCGCAACCTGGGAGGATTTAGGGCAAAGTTGATCCTAGTTGCAAATTGGCATTCTGAAGACCAGACTGAACTTGGTCTTGTTTGGCCTGTAGAGGGTTTTTAAAAAACATGGACCAGGGATTTCAAATCACCTAAAACCCAGGCTTTCTCGGTTATGCATTCAAAAGATGGAGCTACCCAGGGCCTGCCTTCCTCAGTGGCACAGAAAGTATACCCTCCAACCCCCACTGTTTGTCTTCCTCATCTGAGTCCCAGCTAATCCCTGGAGACACCTTAGTCGGCCGCCTTAGTAGGCCGCCCACGCTACCTGGGCAGAGGGGCCCGAGCCTGGAGTCAGGGAGGCTGGTGGGTGTGGAGTCCCAGGAACCACCACCAAGCCCCGCACATCCCTCCTAAGGAGGCCTGGCTGGGCCCTCTCTGCTCCGTGTGTGTAGCCGAAGGTGTCTGCGGAGGGTGCTGAGCAAGGCACATCCCACCCCATCCCGCTGGGGCTGGCATTGCTGGCGGGTTCTGTAAGACACAACCCCCACGGGTTGGCCTCATCTGAGTGGCCTTGGCAGAGTCCACTCTGCTTCTTGAAGCCTCAGTTTCCCCTTTGTAAAGTAAAGATCGAGGCATTCAGAGTCATGTCAGGGTGGTAGGGGGCAGAATGGGAGGGTCCTGGGACCTGAATCGGCAGCCTCGGCGGGGGCCTGTCCACCCCTCCCCCAGGTCCTCCCCACACGGCCGCTCACAATGCCTCGGTGGACATGTGCGAGCTCAAAAGGGACCTCCAGCTGCTCAGCCAGTTCCTGAAGCATCCCC
GGTCATGATAGGAAGCGCCCTTCCCCTCTGGCTCCTGTAGAGGGCGTCGCGGATGCATTGATCCTTTAGTTCCTTCACTGTCCATCCCCACAGCCTTTATCCAGCAACCTCTGTACAGCCAGGGCCTGCCCACAGAGATGGATCAGGTGCTCCCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTAGAACCCTCATGCCAGATTCTAGATAAGATAATCCCGTCACTCTGGGTTCAGGAGGGAGGTACTACGATTAGCCCGATTTTGAGTGACTTACACAAGGTCCTGCAGCGGGCAAAAGGTGGAACTGAGACTGGAACTCAGCTGGACTCTGGACAGCCACTCCCCCGCCTTTTTTTTTTTAAAGCAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAGTTATAGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGTGATCCTTCCACCTCAGCCTCCCTAGTAGCTGGGACCACAGGCATACACCGCCATGCCTGGCTAATTTTGTTTATTTATTGTAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCTGAATTCCTGTGCTCAAGCGATCCTCCTTTCTCAGCCTCCCAAAGCGCTGGGATTACAGACATAAGTCACCACGCCTGGCCTCACTGCCTCTTGGGGAGCGGCCTCTGGCCGCTCTGGGGAGGTCCATGGGCTTTTTCCACACTTGCTTCCCCACCTCACCTCCCACATCCATGCCACACTGGCCTCCTCTTCTGCAGGGCCAGCCCAACCACCACACAGTCCACACTCCCAGCTAACACTCCTGGTCTCTTCCAGGTGGTGACTTCCAAGAGTGACTCCGTCGGAGGAAAATGACTCCCCAGTCGCTGCTGCAGACGACACTGTTCCTGCTGAGTCTGCTCTTCCTGGTCCAAGGCAGGTCTTCCCAGGGGTGCCCTGGGCTGTTGGAACTTACGTTAAAATGCCCCTGTGCCTAGGGTGGCTGCCAGCACACATGCTAACTCCTTTAGGCAGTTACAGCTCGGCTAGTGGAGGGTACCTTGGAGAAAAGCAAAAGACACTCCTTCCTTCTGGCAGGTGCAGCCCTGCAGTGCACAGCTTAGGGTATGGAATATGGATGGGGTACTGGCCCCACTCACCTCTGCAGCCAGAGCATTCTTGTGCAGTGTACCACCTGCACAACCGTCTATGTCAGCCATGGCCTCATTAAATACTTCATTGCTGTTAAAAATATGTTTTCCCCTTGAAATTACTATTCGTTTTCAGTTTCCTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAGTTTCCTCTTTTTATAGTTTGATGCTGATAAGTTTTGAGTGGGAAAGACTAACACATTTTTGTAGACCCTTGGAATGTGTGTGAATCTCAGGCTCCAGGTTCACATGTACTCAGCCTAGGTCCTGTCCCCTTCCATGCCTCTGGTCAGCCCCTGCCACGGGGTCCCATCTGCAGCCTCTGCCTCCTCAGGTGCCCACGGCAGGGGCCACAGGGAAGACTTTCGCTTCTGCAGCCAGCAGAACCAGACACACAGGAGCAGCCTCCACTACAAACCCACACCAGACCTGCGCATCTCCATCGAGAACTCCGAAGAGGCCCTCACAGTCCATGCCCCTTTCCCTGCAGCCCACCCTGCTTCCCGATCCTTCCCTGACCCCAGGGGCCTCTACCACTTCTGCCTCTACTGGAACCGACATGCTGGGAGATTACATCTTCTCTATGGCAAGCGTGACTTCTTGCTGAGTGACAAAGCCTCTAGCCTCCTCTGCTTCCAGCACCAGGAGGAGAGCCTGGCTCAGGGCCCCCCGCTGTTAGCCACTTCTGTCACCTCCTGGTGGAGCCCTCAGAACATCAGCCTGCCCAGTGCCGCCAGCTTCACCTTCTCCTTCCACAGTAAGGCAACTTCCAGGCGGAGGGAACAACTGGGCAGTGGTCTAGAGGCAGGGAAGGCAAAATGCAAAGTGGACTGGGCTCACAATATCAGATCATGAAGACTGGGCTTTGCTCACAGGCACTGGGGAGCCAGTGAAGGTGTCTGAGGAGGGGAGGAGTGTAATCCAAGTGCTAGGATTACAGGCATGAACCACTGCGCTCGGCCCCACTGTCCCTTGATGGTTACTTTGTGGGCAGGCAGGGGTGAGGATGGAAGGGCAAGGGCCCGTCCTGAGGCTGCAGAGAAGGTCTTGGTGAAGGAGGATGAGGTCTGAATAGGGTGAGAGAGCAGAGACTGGAAAGGGACTGAAGATCAAGAGCCCCAGGAAGAATTCTTCCTCAGCATCAGTGTAGACTGTTTATTTCCTTTCACAGAGGAGGAAACTGGGGCACAGAGAGGATGCCCAAAGCTGCACAGCTAGCCAATGGGAGAGCCAGGATTTGAACCCAGCAGCTGATTGGAGTGGGGTAGGGGTGAGGGGCGGAGTATGAGAGGTCAAAGGTCAGGAAAGCAGTGGGGTTGACTCTGAGGTCCAGAAGCTGCATCTTCCCCCTTGAGTGTGACAGGTACATGTGGCCACTGCCATTCAGCACCATTAAATGCTGAATGGTGGCCAGGAAGGGAGGAGCATCAGAAGGAGCTTGAAGGTTTACTGGGGGGTTTTCATGTCTTTCCAGCACCTCAAGTTTGAGGCAGGGCTTTCAGGGGTGGGGGGCACAGCACTTTGATTGTGTCAGTGTAACAGGCTAATGATTATGTCCAGTGCAACAGGCAGGCCCAGGCCCGTCAGTGGTGGGGGGTTCCCCACACCCCAGGCTGGGATTCTGCCCCGCAACCTGGGAGGATTTAGGGCAAAGTTGATCCTAGTTGCAAATTGGCATTCTGAAGACCAGACTGAACTTGGTCTTGTTTGGCCTGTAGAGGGTTTTTAAAAAACATGGACCAGGGATTTCAAATCACCTAAAACCCAGGCTTTCTCGGTTATGCATTCAAAAGATGGAGCTACCCAGGGCCTGCCTTCCTCAGTGGCACAGAAAGTATACCCTCCAACCCCCACTGTTTGTCTTCCTCATCTGAGTCCCAGCTAATCCCTGGAGACACCTTAGTCGGCCGCCTTAGTAGGCCGCCCACGCTACCTGGGCAGAGGGGCCCGAGCCTGGAGTCAGGGAGGCTGGTGGGTGTGGAGTCCCAGGAACCACCACCAAGCCCCGCACATCCCTCCTAAGGAGGCCTGGCTGGGCCCTCTCTGCTCCGTGTGTGTAGCCGAAGGTGTCTGCGGAGGGTGCTGAGCAAGGCACATCCCACCCCATCCCGCTGGGGCTGGCATTGCTGGCGGGTTCTGTAAGACACAACCCCCACGGGTTGGCCTCATCTGAGTGGCCTTGGCAGAGTCCACTCTGCTTCTTGAAGCCTCAGTTTCCCCTTTGTAAAGTAAAGATCGAGGCATTCAGAGTCATGTCAGGGTGGTAGGGGGCAGAATGGGAGGGTCCTGGGACCTGAATCGGCAGCCTCGGCGGGGGCCTGTCCACCCCTCCCCCAGGTCCTCCCCACACGGCCGCTCACAATGCCTCGGTGGACATGTGCGAGCTCAAAAGGGACCTCCAGCTGCTCAGCCAGTTCCTGAAGCATCCCC
Task1_train_22751
This alteration occurs within gene ADGRG1 (adhesion G protein-coupled receptor G1) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
Pathogenic; Bilateral frontoparietal polymicrogyria
TCCCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTAGAACCCTCATGCCAGATTCTAGATAAGATAATCCCGTCACTCTGGGTTCAGGAGGGAGGTACTACGATTAGCCCGATTTTGAGTGACTTACACAAGGTCCTGCAGCGGGCAAAAGGTGGAACTGAGACTGGAACTCAGCTGGACTCTGGACAGCCACTCCCCCGCCTTTTTTTTTTTAAAGCAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAGTTATAGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGTGATCCTTCCACCTCAGCCTCCCTAGTAGCTGGGACCACAGGCATACACCGCCATGCCTGGCTAATTTTGTTTATTTATTGTAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCTGAATTCCTGTGCTCAAGCGATCCTCCTTTCTCAGCCTCCCAAAGCGCTGGGATTACAGACATAAGTCACCACGCCTGGCCTCACTGCCTCTTGGGGAGCGGCCTCTGGCCGCTCTGGGGAGGTCCATGGGCTTTTTCCACACTTGCTTCCCCACCTCACCTCCCACATCCATGCCACACTGGCCTCCTCTTCTGCAGGGCCAGCCCAACCACCACACAGTCCACACTCCCAGCTAACACTCCTGGTCTCTTCCAGGTGGTGACTTCCAAGAGTGACTCCGTCGGAGGAAAATGACTCCCCAGTCGCTGCTGCAGACGACACTGTTCCTGCTGAGTCTGCTCTTCCTGGTCCAAGGCAGGTCTTCCCAGGGGTGCCCTGGGCTGTTGGAACTTACGTTAAAATGCCCCTGTGCCTAGGGTGGCTGCCAGCACACATGCTAACTCCTTTAGGCAGTTACAGCTCGGCTAGTGGAGGGTACCTTGGAGAAAAGCAAAAGACACTCCTTCCTTCTGGCAGGTGCAGCCCTGCAGTGCACAGCTTAGGGTATGGAATATGGATGGGGTACTGGCCCCACTCACCTCTGCAGCCAGAGCATTCTTGTGCAGTGTACCACCTGCACAACCGTCTATGTCAGCCATGGCCTCATTAAATACTTCATTGCTGTTAAAAATATGTTTTCCCCTTGAAATTACTATTCGTTTTCAGTTTCCTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAGTTTCCTCTTTTTATAGTTTGATGCTGATAAGTTTTGAGTGGGAAAGACTAACACATTTTTGTAGACCCTTGGAATGTGTGTGAATCTCAGGCTCCAGGTTCACATGTACTCAGCCTAGGTCCTGTCCCCTTCCATGCCTCTGGTCAGCCCCTGCCACGGGGTCCCATCTGCAGCCTCTGCCTCCTCAGGTGCCCACGGCAGGGGCCACAGGGAAGACTTTCGCTTCTGCAGCCAGCGGAACCAGACACACAGGAGCAGCCTCCACTACAAACCCACACCAGACCTGCGCATCTCCATCGAGAACTCCGAAGAGGCCCTCACAGTCCATGCCCCTTTCCCTGCAGCCCACCCTGCTTCCCGATCCTTCCCTGACCCCAGGGGCCTCTACCACTTCTGCCTCTACTGGAACCGACATGCTGGGAGATTACATCTTCTCTATGGCAAGCGTGACTTCTTGCTGAGTGACAAAGCCTCTAGCCTCCTCTGCTTCCAGCACCAGGAGGAGAGCCTGGCTCAGGGCCCCCCGCTGTTAGCCACTTCTGTCACCTCCTGGTGGAGCCCTCAGAACATCAGCCTGCCCAGTGCCGCCAGCTTCACCTTCTCCTTCCACAGTAAGGCAACTTCCAGGCGGAGGGAACAACTGGGCAGTGGTCTAGAGGCAGGGAAGGCAAAATGCAAAGTGGACTGGGCTCACAATATCAGATCATGAAGACTGGGCTTTGCTCACAGGCACTGGGGAGCCAGTGAAGGTGTCTGAGGAGGGGAGGAGTGTAATCCAAGTGCTAGGATTACAGGCATGAACCACTGCGCTCGGCCCCACTGTCCCTTGATGGTTACTTTGTGGGCAGGCAGGGGTGAGGATGGAAGGGCAAGGGCCCGTCCTGAGGCTGCAGAGAAGGTCTTGGTGAAGGAGGATGAGGTCTGAATAGGGTGAGAGAGCAGAGACTGGAAAGGGACTGAAGATCAAGAGCCCCAGGAAGAATTCTTCCTCAGCATCAGTGTAGACTGTTTATTTCCTTTCACAGAGGAGGAAACTGGGGCACAGAGAGGATGCCCAAAGCTGCACAGCTAGCCAATGGGAGAGCCAGGATTTGAACCCAGCAGCTGATTGGAGTGGGGTAGGGGTGAGGGGCGGAGTATGAGAGGTCAAAGGTCAGGAAAGCAGTGGGGTTGACTCTGAGGTCCAGAAGCTGCATCTTCCCCCTTGAGTGTGACAGGTACATGTGGCCACTGCCATTCAGCACCATTAAATGCTGAATGGTGGCCAGGAAGGGAGGAGCATCAGAAGGAGCTTGAAGGTTTACTGGGGGGTTTTCATGTCTTTCCAGCACCTCAAGTTTGAGGCAGGGCTTTCAGGGGTGGGGGGCACAGCACTTTGATTGTGTCAGTGTAACAGGCTAATGATTATGTCCAGTGCAACAGGCAGGCCCAGGCCCGTCAGTGGTGGGGGGTTCCCCACACCCCAGGCTGGGATTCTGCCCCGCAACCTGGGAGGATTTAGGGCAAAGTTGATCCTAGTTGCAAATTGGCATTCTGAAGACCAGACTGAACTTGGTCTTGTTTGGCCTGTAGAGGGTTTTTAAAAAACATGGACCAGGGATTTCAAATCACCTAAAACCCAGGCTTTCTCGGTTATGCATTCAAAAGATGGAGCTACCCAGGGCCTGCCTTCCTCAGTGGCACAGAAAGTATACCCTCCAACCCCCACTGTTTGTCTTCCTCATCTGAGTCCCAGCTAATCCCTGGAGACACCTTAGTCGGCCGCCTTAGTAGGCCGCCCACGCTACCTGGGCAGAGGGGCCCGAGCCTGGAGTCAGGGAGGCTGGTGGGTGTGGAGTCCCAGGAACCACCACCAAGCCCCGCACATCCCTCCTAAGGAGGCCTGGCTGGGCCCTCTCTGCTCCGTGTGTGTAGCCGAAGGTGTCTGCGGAGGGTGCTGAGCAAGGCACATCCCACCCCATCCCGCTGGGGCTGGCATTGCTGGCGGGTTCTGTAAGACACAACCCCCACGGGTTGGCCTCATCTGAGTGGCCTTGGCAGAGTCCACTCTGCTTCTTGAAGCCTCAGTTTCCCCTTTGTAAAGTAAAGATCGAGGCATTCAGAGTCATGTCAGGGTGGTAGGGGGCAGAATGGGAGGGTCCTGGGACCTGAATCGGCAGCCTCGGCGGGGGCCTGTCCACCCCTCCCCCAGGTCCTCCCCACACGGCCGCTCACAATGCCTCGGTGGACATGTGCGAGCTCAAAAGGGACCTCCAGCTGCTCAGCCAGTTCCTGAAGCATCCCCAGAAGGCCTCAAGGAGGCCCTCGGCTGCCCCCGCCAGCCAGTAAGTTTGGCACCTGGGGCTGTGAGGGGAGGCAGGAAGGCATCAGAGATCTGGACCTGGGCAGGGTGGGACCTGGAGTAGGGGCTACTGCGAGGCCTTCCCTGGGACTG
TCCCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTAGAACCCTCATGCCAGATTCTAGATAAGATAATCCCGTCACTCTGGGTTCAGGAGGGAGGTACTACGATTAGCCCGATTTTGAGTGACTTACACAAGGTCCTGCAGCGGGCAAAAGGTGGAACTGAGACTGGAACTCAGCTGGACTCTGGACAGCCACTCCCCCGCCTTTTTTTTTTTAAAGCAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAGTTATAGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGTGATCCTTCCACCTCAGCCTCCCTAGTAGCTGGGACCACAGGCATACACCGCCATGCCTGGCTAATTTTGTTTATTTATTGTAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCTGAATTCCTGTGCTCAAGCGATCCTCCTTTCTCAGCCTCCCAAAGCGCTGGGATTACAGACATAAGTCACCACGCCTGGCCTCACTGCCTCTTGGGGAGCGGCCTCTGGCCGCTCTGGGGAGGTCCATGGGCTTTTTCCACACTTGCTTCCCCACCTCACCTCCCACATCCATGCCACACTGGCCTCCTCTTCTGCAGGGCCAGCCCAACCACCACACAGTCCACACTCCCAGCTAACACTCCTGGTCTCTTCCAGGTGGTGACTTCCAAGAGTGACTCCGTCGGAGGAAAATGACTCCCCAGTCGCTGCTGCAGACGACACTGTTCCTGCTGAGTCTGCTCTTCCTGGTCCAAGGCAGGTCTTCCCAGGGGTGCCCTGGGCTGTTGGAACTTACGTTAAAATGCCCCTGTGCCTAGGGTGGCTGCCAGCACACATGCTAACTCCTTTAGGCAGTTACAGCTCGGCTAGTGGAGGGTACCTTGGAGAAAAGCAAAAGACACTCCTTCCTTCTGGCAGGTGCAGCCCTGCAGTGCACAGCTTAGGGTATGGAATATGGATGGGGTACTGGCCCCACTCACCTCTGCAGCCAGAGCATTCTTGTGCAGTGTACCACCTGCACAACCGTCTATGTCAGCCATGGCCTCATTAAATACTTCATTGCTGTTAAAAATATGTTTTCCCCTTGAAATTACTATTCGTTTTCAGTTTCCTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAGTTTCCTCTTTTTATAGTTTGATGCTGATAAGTTTTGAGTGGGAAAGACTAACACATTTTTGTAGACCCTTGGAATGTGTGTGAATCTCAGGCTCCAGGTTCACATGTACTCAGCCTAGGTCCTGTCCCCTTCCATGCCTCTGGTCAGCCCCTGCCACGGGGTCCCATCTGCAGCCTCTGCCTCCTCAGGTGCCCACGGCAGGGGCCACAGGGAAGACTTTCGCTTCTGCAGCCAGCGGAACCAGACACACAGGAGCAGCCTCCACTACAAACCCACACCAGACCTGCGCATCTCCATCGAGAACTCCGAAGAGGCCCTCACAGTCCATGCCCCTTTCCCTGCAGCCCACCCTGCTTCCCGATCCTTCCCTGACCCCAGGGGCCTCTGCCACTTCTGCCTCTACTGGAACCGACATGCTGGGAGATTACATCTTCTCTATGGCAAGCGTGACTTCTTGCTGAGTGACAAAGCCTCTAGCCTCCTCTGCTTCCAGCACCAGGAGGAGAGCCTGGCTCAGGGCCCCCCGCTGTTAGCCACTTCTGTCACCTCCTGGTGGAGCCCTCAGAACATCAGCCTGCCCAGTGCCGCCAGCTTCACCTTCTCCTTCCACAGTAAGGCAACTTCCAGGCGGAGGGAACAACTGGGCAGTGGTCTAGAGGCAGGGAAGGCAAAATGCAAAGTGGACTGGGCTCACAATATCAGATCATGAAGACTGGGCTTTGCTCACAGGCACTGGGGAGCCAGTGAAGGTGTCTGAGGAGGGGAGGAGTGTAATCCAAGTGCTAGGATTACAGGCATGAACCACTGCGCTCGGCCCCACTGTCCCTTGATGGTTACTTTGTGGGCAGGCAGGGGTGAGGATGGAAGGGCAAGGGCCCGTCCTGAGGCTGCAGAGAAGGTCTTGGTGAAGGAGGATGAGGTCTGAATAGGGTGAGAGAGCAGAGACTGGAAAGGGACTGAAGATCAAGAGCCCCAGGAAGAATTCTTCCTCAGCATCAGTGTAGACTGTTTATTTCCTTTCACAGAGGAGGAAACTGGGGCACAGAGAGGATGCCCAAAGCTGCACAGCTAGCCAATGGGAGAGCCAGGATTTGAACCCAGCAGCTGATTGGAGTGGGGTAGGGGTGAGGGGCGGAGTATGAGAGGTCAAAGGTCAGGAAAGCAGTGGGGTTGACTCTGAGGTCCAGAAGCTGCATCTTCCCCCTTGAGTGTGACAGGTACATGTGGCCACTGCCATTCAGCACCATTAAATGCTGAATGGTGGCCAGGAAGGGAGGAGCATCAGAAGGAGCTTGAAGGTTTACTGGGGGGTTTTCATGTCTTTCCAGCACCTCAAGTTTGAGGCAGGGCTTTCAGGGGTGGGGGGCACAGCACTTTGATTGTGTCAGTGTAACAGGCTAATGATTATGTCCAGTGCAACAGGCAGGCCCAGGCCCGTCAGTGGTGGGGGGTTCCCCACACCCCAGGCTGGGATTCTGCCCCGCAACCTGGGAGGATTTAGGGCAAAGTTGATCCTAGTTGCAAATTGGCATTCTGAAGACCAGACTGAACTTGGTCTTGTTTGGCCTGTAGAGGGTTTTTAAAAAACATGGACCAGGGATTTCAAATCACCTAAAACCCAGGCTTTCTCGGTTATGCATTCAAAAGATGGAGCTACCCAGGGCCTGCCTTCCTCAGTGGCACAGAAAGTATACCCTCCAACCCCCACTGTTTGTCTTCCTCATCTGAGTCCCAGCTAATCCCTGGAGACACCTTAGTCGGCCGCCTTAGTAGGCCGCCCACGCTACCTGGGCAGAGGGGCCCGAGCCTGGAGTCAGGGAGGCTGGTGGGTGTGGAGTCCCAGGAACCACCACCAAGCCCCGCACATCCCTCCTAAGGAGGCCTGGCTGGGCCCTCTCTGCTCCGTGTGTGTAGCCGAAGGTGTCTGCGGAGGGTGCTGAGCAAGGCACATCCCACCCCATCCCGCTGGGGCTGGCATTGCTGGCGGGTTCTGTAAGACACAACCCCCACGGGTTGGCCTCATCTGAGTGGCCTTGGCAGAGTCCACTCTGCTTCTTGAAGCCTCAGTTTCCCCTTTGTAAAGTAAAGATCGAGGCATTCAGAGTCATGTCAGGGTGGTAGGGGGCAGAATGGGAGGGTCCTGGGACCTGAATCGGCAGCCTCGGCGGGGGCCTGTCCACCCCTCCCCCAGGTCCTCCCCACACGGCCGCTCACAATGCCTCGGTGGACATGTGCGAGCTCAAAAGGGACCTCCAGCTGCTCAGCCAGTTCCTGAAGCATCCCCAGAAGGCCTCAAGGAGGCCCTCGGCTGCCCCCGCCAGCCAGTAAGTTTGGCACCTGGGGCTGTGAGGGGAGGCAGGAAGGCATCAGAGATCTGGACCTGGGCAGGGTGGGACCTGGAGTAGGGGCTACTGCGAGGCCTTCCCTGGGACTG
Task1_train_22752
Consider a variant on Chromosome 16 in gene ADGRG1 (adhesion G protein-coupled receptor G1). Determine its clinical classification and disease relevance.
Pathogenic; Bilateral frontoparietal polymicrogyria
CCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTAGAACCCTCATGCCAGATTCTAGATAAGATAATCCCGTCACTCTGGGTTCAGGAGGGAGGTACTACGATTAGCCCGATTTTGAGTGACTTACACAAGGTCCTGCAGCGGGCAAAAGGTGGAACTGAGACTGGAACTCAGCTGGACTCTGGACAGCCACTCCCCCGCCTTTTTTTTTTTAAAGCAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAGTTATAGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGTGATCCTTCCACCTCAGCCTCCCTAGTAGCTGGGACCACAGGCATACACCGCCATGCCTGGCTAATTTTGTTTATTTATTGTAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCTGAATTCCTGTGCTCAAGCGATCCTCCTTTCTCAGCCTCCCAAAGCGCTGGGATTACAGACATAAGTCACCACGCCTGGCCTCACTGCCTCTTGGGGAGCGGCCTCTGGCCGCTCTGGGGAGGTCCATGGGCTTTTTCCACACTTGCTTCCCCACCTCACCTCCCACATCCATGCCACACTGGCCTCCTCTTCTGCAGGGCCAGCCCAACCACCACACAGTCCACACTCCCAGCTAACACTCCTGGTCTCTTCCAGGTGGTGACTTCCAAGAGTGACTCCGTCGGAGGAAAATGACTCCCCAGTCGCTGCTGCAGACGACACTGTTCCTGCTGAGTCTGCTCTTCCTGGTCCAAGGCAGGTCTTCCCAGGGGTGCCCTGGGCTGTTGGAACTTACGTTAAAATGCCCCTGTGCCTAGGGTGGCTGCCAGCACACATGCTAACTCCTTTAGGCAGTTACAGCTCGGCTAGTGGAGGGTACCTTGGAGAAAAGCAAAAGACACTCCTTCCTTCTGGCAGGTGCAGCCCTGCAGTGCACAGCTTAGGGTATGGAATATGGATGGGGTACTGGCCCCACTCACCTCTGCAGCCAGAGCATTCTTGTGCAGTGTACCACCTGCACAACCGTCTATGTCAGCCATGGCCTCATTAAATACTTCATTGCTGTTAAAAATATGTTTTCCCCTTGAAATTACTATTCGTTTTCAGTTTCCTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAGTTTCCTCTTTTTATAGTTTGATGCTGATAAGTTTTGAGTGGGAAAGACTAACACATTTTTGTAGACCCTTGGAATGTGTGTGAATCTCAGGCTCCAGGTTCACATGTACTCAGCCTAGGTCCTGTCCCCTTCCATGCCTCTGGTCAGCCCCTGCCACGGGGTCCCATCTGCAGCCTCTGCCTCCTCAGGTGCCCACGGCAGGGGCCACAGGGAAGACTTTCGCTTCTGCAGCCAGCGGAACCAGACACACAGGAGCAGCCTCCACTACAAACCCACACCAGACCTGCGCATCTCCATCGAGAACTCCGAAGAGGCCCTCACAGTCCATGCCCCTTTCCCTGCAGCCCACCCTGCTTCCCGATCCTTCCCTGACCCCAGGGGCCTCTACCACTTCTGCCTCTACTGGAACCGACATGCTGGGAGATTACATCTTCTCTATGGCAAGCGTGACTTCTTGCTGAGTGACAAAGCCTCTAGCCTCCTCTGCTTCCAGCACCAGGAGGAGAGCCTGGCTCAGGGCCCCCCGCTGTTAGCCACTTCTGTCACCTCCTGGTGGAGCCCTCAGAACATCAGCCTGCCCAGTGCCGCCAGCTTCACCTTCTCCTTCCACAGTAAGGCAACTTCCAGGCGGAGGGAACAACTGGGCAGTGGTCTAGAGGCAGGGAAGGCAAAATGCAAAGTGGACTGGGCTCACAATATCAGATCATGAAGACTGGGCTTTGCTCACAGGCACTGGGGAGCCAGTGAAGGTGTCTGAGGAGGGGAGGAGTGTAATCCAAGTGCTAGGATTACAGGCATGAACCACTGCGCTCGGCCCCACTGTCCCTTGATGGTTACTTTGTGGGCAGGCAGGGGTGAGGATGGAAGGGCAAGGGCCCGTCCTGAGGCTGCAGAGAAGGTCTTGGTGAAGGAGGATGAGGTCTGAATAGGGTGAGAGAGCAGAGACTGGAAAGGGACTGAAGATCAAGAGCCCCAGGAAGAATTCTTCCTCAGCATCAGTGTAGACTGTTTATTTCCTTTCACAGAGGAGGAAACTGGGGCACAGAGAGGATGCCCAAAGCTGCACAGCTAGCCAATGGGAGAGCCAGGATTTGAACCCAGCAGCTGATTGGAGTGGGGTAGGGGTGAGGGGCGGAGTATGAGAGGTCAAAGGTCAGGAAAGCAGTGGGGTTGACTCTGAGGTCCAGAAGCTGCATCTTCCCCCTTGAGTGTGACAGGTACATGTGGCCACTGCCATTCAGCACCATTAAATGCTGAATGGTGGCCAGGAAGGGAGGAGCATCAGAAGGAGCTTGAAGGTTTACTGGGGGGTTTTCATGTCTTTCCAGCACCTCAAGTTTGAGGCAGGGCTTTCAGGGGTGGGGGGCACAGCACTTTGATTGTGTCAGTGTAACAGGCTAATGATTATGTCCAGTGCAACAGGCAGGCCCAGGCCCGTCAGTGGTGGGGGGTTCCCCACACCCCAGGCTGGGATTCTGCCCCGCAACCTGGGAGGATTTAGGGCAAAGTTGATCCTAGTTGCAAATTGGCATTCTGAAGACCAGACTGAACTTGGTCTTGTTTGGCCTGTAGAGGGTTTTTAAAAAACATGGACCAGGGATTTCAAATCACCTAAAACCCAGGCTTTCTCGGTTATGCATTCAAAAGATGGAGCTACCCAGGGCCTGCCTTCCTCAGTGGCACAGAAAGTATACCCTCCAACCCCCACTGTTTGTCTTCCTCATCTGAGTCCCAGCTAATCCCTGGAGACACCTTAGTCGGCCGCCTTAGTAGGCCGCCCACGCTACCTGGGCAGAGGGGCCCGAGCCTGGAGTCAGGGAGGCTGGTGGGTGTGGAGTCCCAGGAACCACCACCAAGCCCCGCACATCCCTCCTAAGGAGGCCTGGCTGGGCCCTCTCTGCTCCGTGTGTGTAGCCGAAGGTGTCTGCGGAGGGTGCTGAGCAAGGCACATCCCACCCCATCCCGCTGGGGCTGGCATTGCTGGCGGGTTCTGTAAGACACAACCCCCACGGGTTGGCCTCATCTGAGTGGCCTTGGCAGAGTCCACTCTGCTTCTTGAAGCCTCAGTTTCCCCTTTGTAAAGTAAAGATCGAGGCATTCAGAGTCATGTCAGGGTGGTAGGGGGCAGAATGGGAGGGTCCTGGGACCTGAATCGGCAGCCTCGGCGGGGGCCTGTCCACCCCTCCCCCAGGTCCTCCCCACACGGCCGCTCACAATGCCTCGGTGGACATGTGCGAGCTCAAAAGGGACCTCCAGCTGCTCAGCCAGTTCCTGAAGCATCCCCAGAAGGCCTCAAGGAGGCCCTCGGCTGCCCCCGCCAGCCAGTAAGTTTGGCACCTGGGGCTGTGAGGGGAGGCAGGAAGGCATCAGAGATCTGGACCTGGGCAGGGTGGGACCTGGAGTAGGGGCTACTGCGAGGCCTTCCCTGGGACTGGA
CCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTAGAACCCTCATGCCAGATTCTAGATAAGATAATCCCGTCACTCTGGGTTCAGGAGGGAGGTACTACGATTAGCCCGATTTTGAGTGACTTACACAAGGTCCTGCAGCGGGCAAAAGGTGGAACTGAGACTGGAACTCAGCTGGACTCTGGACAGCCACTCCCCCGCCTTTTTTTTTTTAAAGCAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAGTTATAGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGTGATCCTTCCACCTCAGCCTCCCTAGTAGCTGGGACCACAGGCATACACCGCCATGCCTGGCTAATTTTGTTTATTTATTGTAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCTGAATTCCTGTGCTCAAGCGATCCTCCTTTCTCAGCCTCCCAAAGCGCTGGGATTACAGACATAAGTCACCACGCCTGGCCTCACTGCCTCTTGGGGAGCGGCCTCTGGCCGCTCTGGGGAGGTCCATGGGCTTTTTCCACACTTGCTTCCCCACCTCACCTCCCACATCCATGCCACACTGGCCTCCTCTTCTGCAGGGCCAGCCCAACCACCACACAGTCCACACTCCCAGCTAACACTCCTGGTCTCTTCCAGGTGGTGACTTCCAAGAGTGACTCCGTCGGAGGAAAATGACTCCCCAGTCGCTGCTGCAGACGACACTGTTCCTGCTGAGTCTGCTCTTCCTGGTCCAAGGCAGGTCTTCCCAGGGGTGCCCTGGGCTGTTGGAACTTACGTTAAAATGCCCCTGTGCCTAGGGTGGCTGCCAGCACACATGCTAACTCCTTTAGGCAGTTACAGCTCGGCTAGTGGAGGGTACCTTGGAGAAAAGCAAAAGACACTCCTTCCTTCTGGCAGGTGCAGCCCTGCAGTGCACAGCTTAGGGTATGGAATATGGATGGGGTACTGGCCCCACTCACCTCTGCAGCCAGAGCATTCTTGTGCAGTGTACCACCTGCACAACCGTCTATGTCAGCCATGGCCTCATTAAATACTTCATTGCTGTTAAAAATATGTTTTCCCCTTGAAATTACTATTCGTTTTCAGTTTCCTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAGTTTCCTCTTTTTATAGTTTGATGCTGATAAGTTTTGAGTGGGAAAGACTAACACATTTTTGTAGACCCTTGGAATGTGTGTGAATCTCAGGCTCCAGGTTCACATGTACTCAGCCTAGGTCCTGTCCCCTTCCATGCCTCTGGTCAGCCCCTGCCACGGGGTCCCATCTGCAGCCTCTGCCTCCTCAGGTGCCCACGGCAGGGGCCACAGGGAAGACTTTCGCTTCTGCAGCCAGCGGAACCAGACACACAGGAGCAGCCTCCACTACAAACCCACACCAGACCTGCGCATCTCCATCGAGAACTCCGAAGAGGCCCTCACAGTCCATGCCCCTTTCCCTGCAGCCCACCCTGCTTCCCGATCCTTCCCTGACCCCAGGGGCCTCTACTACTTCTGCCTCTACTGGAACCGACATGCTGGGAGATTACATCTTCTCTATGGCAAGCGTGACTTCTTGCTGAGTGACAAAGCCTCTAGCCTCCTCTGCTTCCAGCACCAGGAGGAGAGCCTGGCTCAGGGCCCCCCGCTGTTAGCCACTTCTGTCACCTCCTGGTGGAGCCCTCAGAACATCAGCCTGCCCAGTGCCGCCAGCTTCACCTTCTCCTTCCACAGTAAGGCAACTTCCAGGCGGAGGGAACAACTGGGCAGTGGTCTAGAGGCAGGGAAGGCAAAATGCAAAGTGGACTGGGCTCACAATATCAGATCATGAAGACTGGGCTTTGCTCACAGGCACTGGGGAGCCAGTGAAGGTGTCTGAGGAGGGGAGGAGTGTAATCCAAGTGCTAGGATTACAGGCATGAACCACTGCGCTCGGCCCCACTGTCCCTTGATGGTTACTTTGTGGGCAGGCAGGGGTGAGGATGGAAGGGCAAGGGCCCGTCCTGAGGCTGCAGAGAAGGTCTTGGTGAAGGAGGATGAGGTCTGAATAGGGTGAGAGAGCAGAGACTGGAAAGGGACTGAAGATCAAGAGCCCCAGGAAGAATTCTTCCTCAGCATCAGTGTAGACTGTTTATTTCCTTTCACAGAGGAGGAAACTGGGGCACAGAGAGGATGCCCAAAGCTGCACAGCTAGCCAATGGGAGAGCCAGGATTTGAACCCAGCAGCTGATTGGAGTGGGGTAGGGGTGAGGGGCGGAGTATGAGAGGTCAAAGGTCAGGAAAGCAGTGGGGTTGACTCTGAGGTCCAGAAGCTGCATCTTCCCCCTTGAGTGTGACAGGTACATGTGGCCACTGCCATTCAGCACCATTAAATGCTGAATGGTGGCCAGGAAGGGAGGAGCATCAGAAGGAGCTTGAAGGTTTACTGGGGGGTTTTCATGTCTTTCCAGCACCTCAAGTTTGAGGCAGGGCTTTCAGGGGTGGGGGGCACAGCACTTTGATTGTGTCAGTGTAACAGGCTAATGATTATGTCCAGTGCAACAGGCAGGCCCAGGCCCGTCAGTGGTGGGGGGTTCCCCACACCCCAGGCTGGGATTCTGCCCCGCAACCTGGGAGGATTTAGGGCAAAGTTGATCCTAGTTGCAAATTGGCATTCTGAAGACCAGACTGAACTTGGTCTTGTTTGGCCTGTAGAGGGTTTTTAAAAAACATGGACCAGGGATTTCAAATCACCTAAAACCCAGGCTTTCTCGGTTATGCATTCAAAAGATGGAGCTACCCAGGGCCTGCCTTCCTCAGTGGCACAGAAAGTATACCCTCCAACCCCCACTGTTTGTCTTCCTCATCTGAGTCCCAGCTAATCCCTGGAGACACCTTAGTCGGCCGCCTTAGTAGGCCGCCCACGCTACCTGGGCAGAGGGGCCCGAGCCTGGAGTCAGGGAGGCTGGTGGGTGTGGAGTCCCAGGAACCACCACCAAGCCCCGCACATCCCTCCTAAGGAGGCCTGGCTGGGCCCTCTCTGCTCCGTGTGTGTAGCCGAAGGTGTCTGCGGAGGGTGCTGAGCAAGGCACATCCCACCCCATCCCGCTGGGGCTGGCATTGCTGGCGGGTTCTGTAAGACACAACCCCCACGGGTTGGCCTCATCTGAGTGGCCTTGGCAGAGTCCACTCTGCTTCTTGAAGCCTCAGTTTCCCCTTTGTAAAGTAAAGATCGAGGCATTCAGAGTCATGTCAGGGTGGTAGGGGGCAGAATGGGAGGGTCCTGGGACCTGAATCGGCAGCCTCGGCGGGGGCCTGTCCACCCCTCCCCCAGGTCCTCCCCACACGGCCGCTCACAATGCCTCGGTGGACATGTGCGAGCTCAAAAGGGACCTCCAGCTGCTCAGCCAGTTCCTGAAGCATCCCCAGAAGGCCTCAAGGAGGCCCTCGGCTGCCCCCGCCAGCCAGTAAGTTTGGCACCTGGGGCTGTGAGGGGAGGCAGGAAGGCATCAGAGATCTGGACCTGGGCAGGGTGGGACCTGGAGTAGGGGCTACTGCGAGGCCTTCCCTGGGACTGGA
Task1_train_22753
The following genetic variant occurs in ADGRG1 (adhesion G protein-coupled receptor G1) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Bilateral frontoparietal polymicrogyria
GCTGTGAGCACTCCCTGAAGCTCAGTGCCGTCGCAGCCTCTCCCTGGGGCCTCCCGAGAAGGTTCCAGGCCCGAGGATAGCCATCCTAAGTCAGTAGTTCAACCGTGGGATTGAGGACCCTGTGTGGGCACAGTGGCAGGGTCTGCTTCCTATACCAGTCTCCTGGGGCCACCCGTGTGAACAGAAGACCAGCCCCTAAACGCCTGTCCACGCACCCCCCCCCCCCGTTTTTTTTTTTTCGAGACAGGGTCTTGCTTTGTCACCCAGACTGGAGTACAGTGGGGTAATCATGTCTCACTGCAGCCTCAAACTCCTGGTCTCAAGCGATTCTCCCACTTCAGCCTGTGAGCAGCTGGGACTGCAGGCTTGCTACCACACCTGGCTTTAAAAAATTCTTTGCAAGGCTAGGTGCAGTGGCTCACATCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTAGTACATGCCTGTAATTCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAACATTTTTTTATTTTTGTAAAGACAAGGTCTTGCTACGTTGTCCAGGTTGGTCTTGACCTCCGGGGTTCAAGCAGTCCTCTCGCCCTGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCACACACCCCATCTTGAGACTGCCCCCTGAGTGGCTCTGGTTAGCTGGGAACCACCCACACTGCCCACATGGCCACCCCCAAGTTGGCTGCTGTAGGCAGAGCTGGCATCTGAAGCCCCAGACAACAGAACATCATGTGGTTCTCCCAGGGCTATTTGCCCTGGAGTCCTGGATTCTAACCACAAGACTCCCCAGCCAGAGCTGGTAGCAGGGAAGGGAGGGATGAGGAGGGCTGTCATGAGTCAGGCTTGACTTCCTGAAGAAATGGGCTTAGAAGTGGCAGCGTCCAGGAACGGATGGGTGTGTGTGTGTGTGTGCTAGGGTGGGGGGCACGGATCTAGGGGTCCGCATTTGGCTGAGCCCTAAAGGGACCTCTGCAGGAGGAGCAGAGCGAGATCATGGAGTACTCGGTGCTGCTGCCTCGAACACTCTTCCAGAGGACGAAAGGCCGGAGCGGGGAGGCTGAGAAGAGACTCCTCCTGGTGGACTTCAGCAGCCAAGCCCTGTTCCAGGTATGGGGTCCTCACCCTCATGCCTCCCAGGAGAAAGCAGTTTTTTTCTGACAGAGGTGGAAAGAAGGCACGCAGATGAGCTCCTTCCTCTGGGAGTCAAAGCCTTTCCTTGTAAAGTTACAAATTGCACTGCAATGTGCAAATCTCCCTGTGAGAGGGCTAAGCAATGTTCTTCTTACTATAGTGTAAATGACTACATGGGCAAAAGTGGTTCCAGAGGGAGACGCAGCATCTCAAGGCAATGTGCTGGGAGAGGGTTATCTAGAGAGGGTAAGGGGCTTCTGGGCCCTTCTTCTCAGTCCTGAACTCCCTCCCTACTCTCTTCCTCCAACCCCATGTATCTAGGACAAGAATTCCAGCCAAGTCCTGGGTGAGAAGGTCTTGGGGATTGTGGTACAGAACACCAAAGTAGCCAACCTCACGGAGCCCGTGGTGCTCACTTTCCAGCACCAGCTACAGCCGGTGAGTGGGGGCCAGCCATCAAGAGAACAAGCGCCCCTCGGCCATGTCACCCTTTCCTCTCCCTCCCTCCAGACTCATTTGTCTTTATAATGAAACGATTGCCTGATCGAGCAGTCAGGTCCAAATGGGGCGGGTGGTGGCTTGACTGTGTTCTAGACTTCCTCTGCCTGGCCTGTAAAGTTGGAGGGGTGGGGGGCTGTCACAGAAACCACTCTCCTTTCTTGTCCCTACAGAAGAATGTGACTCTGCAATGTGTGTTCTGGGTTGAAGACCCCACATGTGAGTATGCAGGGGTCTCTGGGCTGGACAAGTATCTGGAAGAGAAATAGAGTCCTGGGGGGTGGGGGAGGTGGGGTTAATCACCGAGGGCTTCCTGGAGAAAGGAGGACTTTGAAGAGAGAGCGATGGCAGGCTATGAGTAGGCCGGGTGGAAGAATGACACAGTCGTGCTTTTGGGGGTGGACACAGTGGGGTCCTGGAGGACTGGACTTGATTGGAGCCCCGTGCTGTCCCCTCCTCAGTGAGCAGCCCGGGGCATTGGAGCAGTGCTGGGTGTGAGACCGTCAGGAGAGAAACCCAAACATCCTGCTTCTGCAACCACTTGACCTACTTTGCAGTGCTGATGGTGAGGGTCCCTGCTCCCACCTCGCAGCCACACCCCAGGCCGTGTGCTTGTTCTGTGCAAGCACTTTTCATATATTCAGTCATTTATTCCTCATAACAGCTCTCCAAGGTAGCTTCTATTGTTGTCCCATTTTATAGATGAGGAAATGGAGGCTCAGAGAGGTTAAGCAATTTACCCGTGGCCACACAGCTAGTCAGTGAAAGAGCTGGTTTGTAGAGCCCCTGCTCTTTATTCCCAAATTTTGGTGTGTACGAAAATGCAGATTCCTGGCCCTCACCTAGGGTTCTGATTTGGCAGTGATGGGGCCAAGAGTGTTTCTAATGAGGCCCCTGAGGTGGCCTCCAGTGCCCCCAAGACCTCAGAATTCATGCTCCCAGGACTGTAGGATTCTGCCTGTGGGTATCCACCTGGGGCTTGAACACCCCTGGGTGTGGGAATCTCATTCCCTCACAGGAAACCTATTCCCATGTTAAATGTTATAGAAGAATAATCAATGCCAGGACAGAATAGGGGTTCTCTCATGAAGGGTTCTTGGCCTCTGTGGGTCAGGAAGCCGCTTGAGAATGTGGTCAAATCTAAAGATGCCCCCACTCCAGAAAAATGCACTTATGGGACCACATTCTGCTCAGTTGGGAGAGGGGGTTCTTAGGCTTCCGAGGCCCACCAGGGACCCCAGGTTAGCCCCTCACGCAGGGCAAGCCTCCAGGTTGTGTGGGGGACACAGAGGCCAGCTCTCTCCTGTCTCCTGGGGCCAGGTCTCCTCGGTGGAGGTGGACGCCGTGCACAAGCACTACCTGAGCCTCCTCTCCTACGTGGGCTGTGTCGTCTCTGCCCTGGCCTGCCTTGTCACCATTGCCGCCTACCTCTGCTCCAGGTGAGGCCTGAAAGGGGTGGGACAGGGGAGGGGACCCTCCATTGCACACACCTCCACCAGGGCGCCGCACACATCTCCGGTCATGGCCCGCCCGCATGACCTGGAACTGTGTGTGTGGTTAGGGGAGCTGTTTGGGGTAAGCTGACCCTTGGGGGCCACGTCTCCTCCTCAGATCAGTGGTGTTTGGATAACATAGTATTTACAAATTTTAGCTGTCGACATTGTATTTATTTATTTTTATTTTTATTTTATTATTATTATTTTTTTGAGACAGAGCCTTGCCTCTGTCGCCCAGGCTGGAGTGTAGTAGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTTGTGCCTCAGCCTCCTGAGTAGTTGGGACTACTGGCGCCTGCCACCACACCTGGCTAATCTGTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCCCCCGAAGCGCTGGGATTACAGGCATGAGTCACTGTGCCAGGCTAATTGTCAACATTTAAAATTGAGAGAGTCCACCTAAGAATCTGTTTCTTTCCTAGAGTAAGACAGGAAAGCAAAATAAAAAACTTAAAAAAGGAAAGATTTTTCATTTCTGCCTTTGAATAAGCAGATTTGTGAGAGCACTGGGTGGACACAATAATATCACAGCGGTAATGATCATACTTAACGTGTGTCAAACTTCCCGTGTGCCATGCACTGTTCTAAGTGTTTTACATGTGTGAACTCAATTCATC
GCTGTGAGCACTCCCTGAAGCTCAGTGCCGTCGCAGCCTCTCCCTGGGGCCTCCCGAGAAGGTTCCAGGCCCGAGGATAGCCATCCTAAGTCAGTAGTTCAACCGTGGGATTGAGGACCCTGTGTGGGCACAGTGGCAGGGTCTGCTTCCTATACCAGTCTCCTGGGGCCACCCGTGTGAACAGAAGACCAGCCCCTAAACGCCTGTCCACGCACCCCCCCCCCCCGTTTTTTTTTTTTCGAGACAGGGTCTTGCTTTGTCACCCAGACTGGAGTACAGTGGGGTAATCATGTCTCACTGCAGCCTCAAACTCCTGGTCTCAAGCGATTCTCCCACTTCAGCCTGTGAGCAGCTGGGACTGCAGGCTTGCTACCACACCTGGCTTTAAAAAATTCTTTGCAAGGCTAGGTGCAGTGGCTCACATCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTAGTACATGCCTGTAATTCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAACATTTTTTTATTTTTGTAAAGACAAGGTCTTGCTACGTTGTCCAGGTTGGTCTTGACCTCCGGGGTTCAAGCAGTCCTCTCGCCCTGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCACACACCCCATCTTGAGACTGCCCCCTGAGTGGCTCTGGTTAGCTGGGAACCACCCACACTGCCCACATGGCCACCCCCAAGTTGGCTGCTGTAGGCAGAGCTGGCATCTGAAGCCCCAGACAACAGAACATCATGTGGTTCTCCCAGGGCTATTTGCCCTGGAGTCCTGGATTCTAACCACAAGACTCCCCAGCCAGAGCTGGTAGCAGGGAAGGGAGGGATGAGGAGGGCTGTCATGAGTCAGGCTTGACTTCCTGAAGAAATGGGCTTAGAAGTGGCAGCGTCCAGGAACGGATGGGTGTGTGTGTGTGTGTGCTAGGGTGGGGGGCACGGATCTAGGGGTCCGCATTTGGCTGAGCCCTAAAGGGACCTCTGCAGGAGGAGCAGAGCGAGATCATGGAGTACTCGGTGCTGCTGCCTCGAACACTCTTCCAGAGGACGAAAGGCCGGAGCGGGGAGGCTGAGAAGAGACTCCTCCTGGTGGACTTCAGCAGCCAAGCCCTGTTCCAGGTATGGGGTCCTCACCCTCATGCCTCCCAGGAGAAAGCAGTTTTTTTCTGACAGAGGTGGAAAGAAGGCACGCAGATGAGCTCCTTCCTCTGGGAGTCAAAGCCTTTCCTTGTAAAGTTACAAATTGCACTGCAATGTGCAAATCTCCCTGTGAGAGGGCTAAGCAATGTTCTTCTTACTATAGTGTAAATGACTACATGGGCAAAAGTGGTTCCAGAGGGAGACGCAGCATCTCAAGGCAATGTGCTGGGAGAGGGTTATCTAGAGAGGGTAAGGGGCTTCTGGGCCCTTCTTCTCAGTCCTGAACTCCCTCCCTACTCTCTTCCTCCAACCCCATGTATCTAGGACAAGAATTCCAGCCAAGTCCTGGGTGAGAAGGTCTTGGGGATTGTGGTACAGAACACCAAAGTAGCCAACCTCACGGAGCCCGTGGTGCTCACTTTCCAGCACCAGCTACAGCCGGTGAGTGGGGGCCAGCCATCAAGAGAACAAGCGCCCCTCGGCCATGTCACCCTTTCCTCTCCCTCCCTCCAGACTCATTTGTCTTTATAATGAAACGATTGCCTGATCGAGCAGTCAGGTCCAAATGGGGCGGGTGGTGGCTTGACTGTGTTCTAGACTTCCTCTGCCTGGCCTGTAAAGTTGGAGGGGTGGGGGGCTGTCACAGAAACCACTCTCCTTTCTTGTCCCTACAGAAGAATGTGACTCTGCAAAGTGTGTTCTGGGTTGAAGACCCCACATGTGAGTATGCAGGGGTCTCTGGGCTGGACAAGTATCTGGAAGAGAAATAGAGTCCTGGGGGGTGGGGGAGGTGGGGTTAATCACCGAGGGCTTCCTGGAGAAAGGAGGACTTTGAAGAGAGAGCGATGGCAGGCTATGAGTAGGCCGGGTGGAAGAATGACACAGTCGTGCTTTTGGGGGTGGACACAGTGGGGTCCTGGAGGACTGGACTTGATTGGAGCCCCGTGCTGTCCCCTCCTCAGTGAGCAGCCCGGGGCATTGGAGCAGTGCTGGGTGTGAGACCGTCAGGAGAGAAACCCAAACATCCTGCTTCTGCAACCACTTGACCTACTTTGCAGTGCTGATGGTGAGGGTCCCTGCTCCCACCTCGCAGCCACACCCCAGGCCGTGTGCTTGTTCTGTGCAAGCACTTTTCATATATTCAGTCATTTATTCCTCATAACAGCTCTCCAAGGTAGCTTCTATTGTTGTCCCATTTTATAGATGAGGAAATGGAGGCTCAGAGAGGTTAAGCAATTTACCCGTGGCCACACAGCTAGTCAGTGAAAGAGCTGGTTTGTAGAGCCCCTGCTCTTTATTCCCAAATTTTGGTGTGTACGAAAATGCAGATTCCTGGCCCTCACCTAGGGTTCTGATTTGGCAGTGATGGGGCCAAGAGTGTTTCTAATGAGGCCCCTGAGGTGGCCTCCAGTGCCCCCAAGACCTCAGAATTCATGCTCCCAGGACTGTAGGATTCTGCCTGTGGGTATCCACCTGGGGCTTGAACACCCCTGGGTGTGGGAATCTCATTCCCTCACAGGAAACCTATTCCCATGTTAAATGTTATAGAAGAATAATCAATGCCAGGACAGAATAGGGGTTCTCTCATGAAGGGTTCTTGGCCTCTGTGGGTCAGGAAGCCGCTTGAGAATGTGGTCAAATCTAAAGATGCCCCCACTCCAGAAAAATGCACTTATGGGACCACATTCTGCTCAGTTGGGAGAGGGGGTTCTTAGGCTTCCGAGGCCCACCAGGGACCCCAGGTTAGCCCCTCACGCAGGGCAAGCCTCCAGGTTGTGTGGGGGACACAGAGGCCAGCTCTCTCCTGTCTCCTGGGGCCAGGTCTCCTCGGTGGAGGTGGACGCCGTGCACAAGCACTACCTGAGCCTCCTCTCCTACGTGGGCTGTGTCGTCTCTGCCCTGGCCTGCCTTGTCACCATTGCCGCCTACCTCTGCTCCAGGTGAGGCCTGAAAGGGGTGGGACAGGGGAGGGGACCCTCCATTGCACACACCTCCACCAGGGCGCCGCACACATCTCCGGTCATGGCCCGCCCGCATGACCTGGAACTGTGTGTGTGGTTAGGGGAGCTGTTTGGGGTAAGCTGACCCTTGGGGGCCACGTCTCCTCCTCAGATCAGTGGTGTTTGGATAACATAGTATTTACAAATTTTAGCTGTCGACATTGTATTTATTTATTTTTATTTTTATTTTATTATTATTATTTTTTTGAGACAGAGCCTTGCCTCTGTCGCCCAGGCTGGAGTGTAGTAGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTTGTGCCTCAGCCTCCTGAGTAGTTGGGACTACTGGCGCCTGCCACCACACCTGGCTAATCTGTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCCCCCGAAGCGCTGGGATTACAGGCATGAGTCACTGTGCCAGGCTAATTGTCAACATTTAAAATTGAGAGAGTCCACCTAAGAATCTGTTTCTTTCCTAGAGTAAGACAGGAAAGCAAAATAAAAAACTTAAAAAAGGAAAGATTTTTCATTTCTGCCTTTGAATAAGCAGATTTGTGAGAGCACTGGGTGGACACAATAATATCACAGCGGTAATGATCATACTTAACGTGTGTCAAACTTCCCGTGTGCCATGCACTGTTCTAAGTGTTTTACATGTGTGAACTCAATTCATC
Task1_train_22754
Here is a variant affecting KATNB1 (katanin regulatory subunit B1) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Lissencephaly 6 with microcephaly
GAACAGGGACAAAGTCCTCCTGCCACGGGGGACCATCTGCAGGCAAAGTGAAGAATGAGGAGCTTCGGCAAAATGCCGACTAAGGCCTCCTTAGGTTTTGCCCCACTCCAAGATGGAAGGCCTGAGGCTTCACACTGCCCCCGAAGTTCCTTTCCCATTGGCTATCTGGGAATTGAGTTTTCCAATAATGCGGACGCTGATTGGTCAATCCAGGACGGTTGCTCAAGCCATTGGCGCAGCCGCCATTGGAGGGCGGCTCTCAAAAGTTTTCAGACACAAATTAGGTTCGAGGGAGGAAACGGAGAGGAAAGGGAAAACTTGAGACGGAGGCGGGACTAAGGAAACGGCAGCTTGCATTGGTTTATTAGAGGCCAAGGGGCGGCTCTTGAACGTTCCTTCCTCTTGATTAGTCCTATTTAGGAAAAGAGGGCGGGTACTGAGGAAAAGCGGCAGAAGCGCCTGCTTCCATTGGTCAGTCCTGGCAGGAGGCGGAGCACCCGCGGCAGCTGATTGGTGCGGGAGGCAAGGTGGGCGGGGCTCTGAGCCGGAGGTTTTGTTGTGAGGGTCGGTTGTCAAGCAGCGGCCAATCAAGGCAGGGGATGGAGGCAAGTGGGGGTCGCGCCTGGAGCGGAGCCTCGGCCTCCGGAGCCGCAGCTGCAGGTGGAGTGGGCAAGGGGACGAGGTGGCGAGGGGACGGTGGGCCCTGGGCTGGGCCGAGCCAGGCGGGGCTGGCTGGGCTTGCGGGCAGAGAGCTCTGAGCGTGGGGAGGCTAGAGCCCGTACTCCGCAAGCAGAGGGTTGGGAGGATCAGCCGTGGCCGAGGGACCTGCCCCCGCCCCCGGACGAGAGGGGTCGGGGTGGAGGCCGGAGGGGGCAAAACCAGGGAGGCCGGAAGCAGAGCTGGGGGTCTGCAGAAGGACAGGTAATGAATAGGGAGAAGAGAAGTAGGAGAATGAATGAATGGGAGACCCCGCGAGCATATGGGAAAGGGCAGTAACGGGAGTCTGGCGAGGCAGGGGCCACGTGAGGGATATCGGGAGACAGGATGTGCATAAGTGGGAGACTCAGGGGGCAGGGAGAAAAGGGGGTGTGAACGGAGGACTAGAGAGGCAGACCCGGGGACCCAGGAGAAAGGGGACGGAGGGGAGCGGGCTCATGGGAAAGAGGTGAAGTGGCTGTGGGAAGGAGGTGGGAGGCTCCATGAGGAGGCCTTTTAGAGTTGAAGAGTCATAGCCACTTACGCCCAGACTGGAGGCCTAGTTCCTAGCTCTGTCCTTGGGAATCGCAGGGAGCAGGAGCGGTTCCCTTGCCAGGAGCTGGGGAATTGGACCATCAGGGTCGTCTTCGAGATTCTTTCCAAGGAGGACTTCAGTGGCCGTCTCTGGGATGCCTTTCCTAGGCCCCTAAGCTTAGCTTCTGACTCCGCTCTCCCACATCCCACACGTCAGACAAAAACAACGACTCGCAGGAAATCTATGTGAATTGCAGACACGTGGTCTTCTCCGCCCCACTGCGGCTGCTGCACTTTAGGCAGCCAGCATCCCGGAACAGAGCTGCAGCTCATTATCCTGGCCTCTGGGAGGAGTTTCTTTTTCCTTACGTTCCAAATCACCCTACCTGAGGTGCCCCCTCTGCAGATTCCCAAACCTAATTTGCAGTGCAGCTTCTGACTCTGGTGGCTTTGGTGGGTGTCAGTCTTTATCAAGTGGTCTTGGTGATCCAGGGAGCAACAGCTCTTACCAAGCATTTTCTAACATGACGTCACCTCTTGTTTGTATTGCAGCCCTGTATTGAGCTGAGATGGCTCGAGCCTAACATTCCATGATCCAGGATCGTGACAGATGTGCACAGGCTGCTGCTGTTGCTGCTGTGGGTAATTTGGAACCACGAGGCACCCCAGGGCCAGAAGACGAGGCATTCTGTCTGCCTGGATGTGTGGGAACTCTCTGCCAACTTGATTGGTGGATCTGGGGGGGGATCCACCCCCACCCCACGAGGAAAGCACAGTTTATTTTGTGGGTGGGGCTTCAGGTGCCAGCCAGCTGAAGGATGGCCACCCCTGTGGTCACCAAGACAGCCTGGAAGTTGCGTGAGTGGTTTTCATTTTTCTTTATCACCCCATTTATTCTGTTAGCGGCTTGTTGCTGGGAGGCCTGAACCCACAGCTTTGTTTCCTGTTCTTGGCACAGGAGGAGACTCCTAGACTTGGGAGTAAGATAGACCATTATGTAAATCATGACTGTGGCACTTCTTAGCTGGGTGACACTGGGCAGGTGACTTAACCTCTCTGAGGCTCAGTTTTCTTATATGTACAATGAGATGACGCCTGCATTCTATGGTTGCTGTGAAATTCAAGTGACAGGATGAACCCATCCTAAAGCACTTAGCACAGCATTTCCAGTTAGGCTGACAGTGGGGTGAGAAATCCTGAAAGATGTTCACAGCATTCTCAGACATCTCACAAGTCAAACTTCCCCAGTCAGATAAAAGCATCTTGGGCCTGGGATGGGGGAAGGAGTGGGAGCGAGGAGGGGCGGGCAGAGGGATGCAGACAGGGCTCGGATTGTAACTGATGGGCACTGTCCACTCCCACCATTGCCCTATACAAGTGGATCTGGACTCTTTCATCTGAAGACTTCATACTTTAAGAATTATTGAGGACCCCAGAGTGCTTTTGTTTGTTGGAGTTATATATCTGTCAGTATTTACCACGTTAGAAGTTAATACTGAGACATTTTCAAACAAGAGTATATAATCAAATAGGCCTCTAGTGATGTTCTGGGAAACTCCACCATATGCTTGAGAGCAAATGAGAGTGCAAAAGGCAGATGCCATCTTAGTGTTATTGTGAAAATCCTTTTGTCTTCTCAGACCCCCCGAAAGGATCTTGAGGATCCCAAGCATCCCCAGATCATATTTTGAGAATTCCCCTACACATTGGCACCTTGGTGGGCCCTGCCCCACCTATTGTAACTGGTTGGCATAGCTTTTGTGTGCTCCACCTGGTCACTGTCTGCTGCCAGCTGTCCCTGGGCTGGTTTTCAGGAGCTGGGACAAGACTCCACACTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCACCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCTTCCCGGGTTCATGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGCACCCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTCGTCTCGAACCCCTGACCTCAGGTGATCCACGTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCATGCCTGGCCAAGACTCCACACTTTTTAACCATGAATTTAACCATAAGACTCTGGGCAAAGCTCTTTGCAGGGCCTCTGTTTCCTTGTTTGTAAAGTGAGAGGTTTGGGCCATTTTCATGTTGTTCCCCAAAACTCTAGGGCTCTGGGAGAACCCTGTTATGGTTCCCCAAGGAAGGCACACTTTGGTCAGAGTGGCTTTGTAATTATTGGGATTACGTATTCATCCCTTCGACAGCTGGCCTTTCCCCAGAGCTAGGCACTGGGGAGCCACTGGGGGACAAAGTAGTCAAGGTCTCTGTACAGCGGGAGCTCAGAGCCTGGGGAGAGCAACAGGCAGGAACTGGATAACCGTATCCCTCTGTGTCTCCTCTAGTTGCAAGCTGGTGCCTGTGCTTTGAATCAGTTAGCTGGGGGGTAGGGGTAGGGGTGGGGTGGGAATGCTGCAGGCTGCATGAACAGCAAGTGCAAAGGCCCTGAGGCAGGAGGCTCAGTGTATTGGAAGGACTCAAGGGAGGCCATGGGCAGTGGCACAGCAGCAGGAGGAATGTGGGGCCGCACGGACCTACTGAGTTCTCAGGACCCCAGCCCTCCTGAGGCTGCCGTGCTTTATCATAAAGGCAAGGCCAAGCCATCAGTGTGTGCGAGCAGGAGGTAATGAGATCAGGCGTATTGGGCATCTGCTGCTGCTGCTGATTTCATGTGCACGGTGGTGTCCGTGGGAATCAACTCTGAAGAGCCCAGGGCC
GAACAGGGACAAAGTCCTCCTGCCACGGGGGACCATCTGCAGGCAAAGTGAAGAATGAGGAGCTTCGGCAAAATGCCGACTAAGGCCTCCTTAGGTTTTGCCCCACTCCAAGATGGAAGGCCTGAGGCTTCACACTGCCCCCGAAGTTCCTTTCCCATTGGCTATCTGGGAATTGAGTTTTCCAATAATGCGGACGCTGATTGGTCAATCCAGGACGGTTGCTCAAGCCATTGGCGCAGCCGCCATTGGAGGGCGGCTCTCAAAAGTTTTCAGACACAAATTAGGTTCGAGGGAGGAAACGGAGAGGAAAGGGAAAACTTGAGACGGAGGCGGGACTAAGGAAACGGCAGCTTGCATTGGTTTATTAGAGGCCAAGGGGCGGCTCTTGAACGTTCCTTCCTCTTGATTAGTCCTATTTAGGAAAAGAGGGCGGGTACTGAGGAAAAGCGGCAGAAGCGCCTGCTTCCATTGGTCAGTCCTGGCAGGAGGCGGAGCACCCGCGGCAGCTGATTGGTGCGGGAGGCAAGGTGGGCGGGGCTCTGAGCCGGAGGTTTTGTTGTGAGGGTCGGTTGTCAAGCAGCGGCCAATCAAGGCAGGGGATGGAGGCAAGTGGGGGTCGCGCCTGGAGCGGAGCCTCGGCCTCCGGAGCCGCAGCTGCAGGTGGAGTGGGCAAGGGGACGAGGTGGCGAGGGGACGGTGGGCCCTGGGCTGGGCCGAGCCAGGCGGGGCTGGCTGGGCTTGCGGGCAGAGAGCTCTGAGCGTGGGGAGGCTAGAGCCCGTACTCCGCAAGCAGAGGGTTGGGAGGATCAGCCGTGGCCGAGGGACCTGCCCCCGCCCCCGGACGAGAGGGGTCGGGGTGGAGGCCGGAGGGGGCAAAACCAGGGAGGCCGGAAGCAGAGCTGGGGGTCTGCAGAAGGACAGGTAATGAATAGGGAGAAGAGAAGTAGGAGAATGAATGAATGGGAGACCCCGCGAGCATATGGGAAAGGGCAGTAACGGGAGTCTGGCGAGGCAGGGGCCACGTGAGGGATATCGGGAGACAGGATGTGCATAAGTGGGAGACTCAGGGGGCAGGGAGAAAAGGGGGTGTGAACGGAGGACTAGAGAGGCAGACCCGGGGACCCAGGAGAAAGGGGACGGAGGGGAGCGGGCTCATGGGAAAGAGGTGAAGTGGCTGTGGGAAGGAGGTGGGAGGCTCCATGAGGAGGCCTTTTAGAGTTGAAGAGTCATAGCCACTTACGCCCAGACTGGAGGCCTAGTTCCTAGCTCTGTCCTTGGGAATCGCAGGGAGCAGGAGCGGTTCCCTTGCCAGGAGCTGGGGAATTGGACCATCAGGGTCGTCTTCGAGATTCTTTCCAAGGAGGACTTCAGTGGCCGTCTCTGGGATGCCTTTCCTAGGCCCCTAAGCTTAGCTTCTGACTCCGCTCTCCCACATCCCACACGTCAGACAAAAACAACGACTCGCAGGAAATCTATGTGAATTGCAGACACGTGGTCTTCTCCGCCCCACTGCGGCTGCTGCACTTTAGGCAGCCAGCATCCCGGAACAGAGCTGCAGCTCATTATCCTGGCCTCTGGGAGGAGTTTCTTTTTCCTTACGTTCCAAATCACCCTACCTGAGGTGCCCCCTCTGCAGATTCCCAAACCTAATTTGCAGTGCAGCTTCTGACTCTGGTGGCTTTGGTGGGTGTCAGTCTTTATCAAGTGGTCTTGGTGATCCAGGGAGCAACAGCTCTTACCAAGCATTTTCTAACATGACGTCACCTCTTGTTTGTATTGCAGCCCTGTATTGAGCTGAGATGGCTCGAGCCTAACATTCCATGATCCAGGATCGTGACAGATGTGCACAGGCTGCTGCTGTTGCTGCTGTGGGTAATTTGGAACCACGAGGCACCCCAGGGCCAGAAGACGAGGCATTCTGTCTGCCTGGATGTGTGGGAACTCTCTGCCAACTTGATTGGTGGATCTGGGGGGGGATCCACCCCCACCCCACGAGGAAAGCACAGTTTATTTTGTGGGTGGGGCTTCAGGTGCCAGCCAGCTGAAGGGTGGCCACCCCTGTGGTCACCAAGACAGCCTGGAAGTTGCGTGAGTGGTTTTCATTTTTCTTTATCACCCCATTTATTCTGTTAGCGGCTTGTTGCTGGGAGGCCTGAACCCACAGCTTTGTTTCCTGTTCTTGGCACAGGAGGAGACTCCTAGACTTGGGAGTAAGATAGACCATTATGTAAATCATGACTGTGGCACTTCTTAGCTGGGTGACACTGGGCAGGTGACTTAACCTCTCTGAGGCTCAGTTTTCTTATATGTACAATGAGATGACGCCTGCATTCTATGGTTGCTGTGAAATTCAAGTGACAGGATGAACCCATCCTAAAGCACTTAGCACAGCATTTCCAGTTAGGCTGACAGTGGGGTGAGAAATCCTGAAAGATGTTCACAGCATTCTCAGACATCTCACAAGTCAAACTTCCCCAGTCAGATAAAAGCATCTTGGGCCTGGGATGGGGGAAGGAGTGGGAGCGAGGAGGGGCGGGCAGAGGGATGCAGACAGGGCTCGGATTGTAACTGATGGGCACTGTCCACTCCCACCATTGCCCTATACAAGTGGATCTGGACTCTTTCATCTGAAGACTTCATACTTTAAGAATTATTGAGGACCCCAGAGTGCTTTTGTTTGTTGGAGTTATATATCTGTCAGTATTTACCACGTTAGAAGTTAATACTGAGACATTTTCAAACAAGAGTATATAATCAAATAGGCCTCTAGTGATGTTCTGGGAAACTCCACCATATGCTTGAGAGCAAATGAGAGTGCAAAAGGCAGATGCCATCTTAGTGTTATTGTGAAAATCCTTTTGTCTTCTCAGACCCCCCGAAAGGATCTTGAGGATCCCAAGCATCCCCAGATCATATTTTGAGAATTCCCCTACACATTGGCACCTTGGTGGGCCCTGCCCCACCTATTGTAACTGGTTGGCATAGCTTTTGTGTGCTCCACCTGGTCACTGTCTGCTGCCAGCTGTCCCTGGGCTGGTTTTCAGGAGCTGGGACAAGACTCCACACTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCACCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCTTCCCGGGTTCATGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGCACCCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTCGTCTCGAACCCCTGACCTCAGGTGATCCACGTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCATGCCTGGCCAAGACTCCACACTTTTTAACCATGAATTTAACCATAAGACTCTGGGCAAAGCTCTTTGCAGGGCCTCTGTTTCCTTGTTTGTAAAGTGAGAGGTTTGGGCCATTTTCATGTTGTTCCCCAAAACTCTAGGGCTCTGGGAGAACCCTGTTATGGTTCCCCAAGGAAGGCACACTTTGGTCAGAGTGGCTTTGTAATTATTGGGATTACGTATTCATCCCTTCGACAGCTGGCCTTTCCCCAGAGCTAGGCACTGGGGAGCCACTGGGGGACAAAGTAGTCAAGGTCTCTGTACAGCGGGAGCTCAGAGCCTGGGGAGAGCAACAGGCAGGAACTGGATAACCGTATCCCTCTGTGTCTCCTCTAGTTGCAAGCTGGTGCCTGTGCTTTGAATCAGTTAGCTGGGGGGTAGGGGTAGGGGTGGGGTGGGAATGCTGCAGGCTGCATGAACAGCAAGTGCAAAGGCCCTGAGGCAGGAGGCTCAGTGTATTGGAAGGACTCAAGGGAGGCCATGGGCAGTGGCACAGCAGCAGGAGGAATGTGGGGCCGCACGGACCTACTGAGTTCTCAGGACCCCAGCCCTCCTGAGGCTGCCGTGCTTTATCATAAAGGCAAGGCCAAGCCATCAGTGTGTGCGAGCAGGAGGTAATGAGATCAGGCGTATTGGGCATCTGCTGCTGCTGCTGATTTCATGTGCACGGTGGTGTCCGTGGGAATCAACTCTGAAGAGCCCAGGGCC
Task1_train_22755
A genomic change on Chromosome 16 affects KATNB1 (katanin regulatory subunit B1). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Lissencephaly 6 with microcephaly
GAGGGGAGTGATGTGGGCTCCTCCAGAAGGGCCCAACTTCTAAATCTTTCTCACTCCAAAGTCTGCGGTTTTGCCAGCTCAGTGTCCCGCCCCCACCACCATCTGATTATACTGGGGCATATTTCGTGCAAGGCCTAGAACAGGCACCCAGGAAATACTGATATTATGAATGAATGCCCCTGACTCCAGGGGCAGCAGTCCTGAGGCCCAGTGAGGTGGGGCCCAGCCAGACACTTTCCCTGGGAGGAGTGAGGGCCAGGGGACAGACAGAGCCCTCCAGGTAGGCCAGGGGGAGCGAGCAGTGCCTCCACGGAGAGGACACCAGGCTCGGGCACGGAATGCCAGGGAGAAGGTGCTTTGCCCTCTTTCTGGGTCAGGTGGAAACCTTGAACAGACACGTCTGTGGCTGGAATTCCTCAGGTTTCTGTCCCGACAGTGTCCAGAGGACAGAAGGCTCTCATCGAGACGGGACTAAAGTGGGGCCCAGCTCCCTGGGATCCCCATGGCGAACTCCCAGCGCCCTGGCCCAGGTTTGGGCCCACAGGGAACCCTCGCCCTTGCTGGCGCTGCTGCCTGTGCTGGCTCTGCCCCGACCGGCCCAGGAGGCAGGGTGTCATCAGTGAGATTCAGCCTGCGACTTGTCCCCTGGGTATTCCTGGTGGCCCCTTGGAGCCCAGGTTTCTGGCAAGCAGCTTCCCTGGGCCCAGTTTCCCAACCTCCTTGTGGTCTGAAGCCCGCAGCAGAGACACCCAGGCAGGGTGGAGTCGGAGCTGGGGTGCAGGAGGGGCCTCTGTGGAGCGCCGTGGCTCCAACACCCTTTTCCTTGGCGTCACCCACGCTGGCCTTCCGGGTGCCTCGGGGCGTCAGCACCTTGGGGTTTTCCCCTGGCCTGTGTGGGGAGAACTGTCTTTTTTCTCCCTTCTTTCCAGGAGGAGCTCATGCAGGGATGGGTTCTGAGGCCCGGGCCGCCTCTTGGTTCCCTGCCTGTGCTTTGCTCCCTGCGGAGTCCTCCGAGGCTCCTGTCTGCCATCTCCACGGACCAGGCCAGGGCCTTGGGCTGTCTGCACAGGCTCCTCCTCTGTGTGGTCAGCCCTCACCCCCACCCCAGCTGCTCAGTCTGTTGCCTCCTGCCCCCTCCTCATGAAGCCCACCCTCTGGTGCCCGCCCAGGCCCCCATGCCCACTCTCTCATGGTGACTAGCCCCGAGCCTGCCCAATGTCACGGAGCCCTCGCCTGCTACTAAGCAGCACGTAGGCGCGCTCTGAGGGAGTCCTCAGCATCAGGTGTGAGCAGACACCACGGGCATCCCCACTTTCCAGACGAGGAGCCAGGCCCTCAGAGGACAAGTGACCTAGTAGCCAAGGCCACGCAATAGCAGATCACAGACCTCAGACCAGAACCTGATCCGTGATTGTGAATCTGAGCCGAAGCCCTGTGCAGGCTTACCTGGGGGCAGCTTGTCTAGAGGTGACTTCGGTTGTTCTTAAAGTGTGTTCTCCAAAGCAGGGTTTGTATGTACACACAAGCAGCAGCTGAGAGGTGTGTAGGCAGTGCATGGGTCAATTTTTTTTATTTCAATAATTGTTTTTCTTTTTGTATCATAGAAAGAGTATCATGAGTATATCAAACTTGTAATTTCATGGACATTGCTTAAGCCCAAGCTAATAAAAATAGCAAGTCAATTTTAAAAATTGCGTATAACTAGTCAATATTACCAGGTGATATGCAGAAACAGGAAGAAAATCGTGAAGTCTAAAGGTAGGAAAGACAGGCATGATGAAAGTTGAGAAACAGTGATTTCCGTCTCAGGCCCATGCCCTGCCCTGTCTGCTGGTCCTGCAGCTCATGGTGGACACCAAAGGGGGAGCTGAAGGAGGCAGATCCTTCCACTGGGCTTCAGGTTCCAAAGCGGGTAGCCGAGCAGGGTCACCCCTCCTTCACAAGGCCCCATCGGGCCGCCCTGATGGCCTCTCCCTCTCCTTCCCTGTGTAGAAGAGATCGTCGCGCATGCCAGCAACGTGTCCTCACTGGTGCTGGGCAAAGCCTCCGGGCGGCTGCTGGCTACAGGCGGGGATGACTGCCGCGTCAACCTGTGGTCCATCAACAAGCCCAACTGCATCATGGTGAGCCCCGACAGCTGGCGGGGGGTCAGGACAAGGGCCTGGGGAGGGGACGGGGACAGGGGTTGGAGGCTGAAGAGTGAGCAGCTTCTCAGACTCTCTTGAGCCCAGGGCCCCCTATCCGCTGGGGCCCAGCTCAGGGGTGGAGGGGGCGTGGTGGGGACACCATCAGTGCTTCCCCCAGCTGTCTGCTCAGTGAGGCCCAGGACAGCCCAGCATGGCTGGGACAGTGGCCAGCCCTCAGGAGCGAGGGAGTCACCTGCCTGTGGTACTATTAAGAACTCCAGGCAGGCTGCGTGAGAAGATTAAAATAAGCCCTGGGCCTGTGGTTGAGCCAAAAGACTTGTACCCCTCCCCTCCCACCTGCCCATCTGCCTGCCTGGCAGCAACATGTGGGCGTTTATTTTAATTCATTCCCAGCCTTCATTCCCCAATGAGGATTTGAGGGGACCTGGCTGGAGCTGGTTAGGGAGCTAGTTCTTAAATAGCATCTCCCCACTATTTATGCAGCTATATGTTCAATGCTGGAAACTGTTTTCCAAATAGGAGTGCATAAAGGAGAAAACACAAAATTAACTACATATAGTTCCGTTATCCAAAGGCCACCACAGTTGGTGTTTTGGTGTGAGTCCTTCTAGATGCTGAGACAGATACATATACGTGTACATGCACGTAAGTGCACACTTGTACATGCATGTACACATGTATACACACAAATACTCATACAAGCACACACACATAAATAAAAATACACTGCCACTCTTGTGCAGCCTGGTTTTTAAAAATAACAATGTTGTAAGGATTTGCCTGTGTCAACAAGTATTCTTTTACAACATAATTTTGAATGGCTTAATGGTGTTCCATTGTAGGGATGAGCCGTAATTAGCTTAGCCACACCCTGTTATCAGCAGAGAGGTTGTTTCCGGCTTTTTTTGGCTCTGCTAAAGCACCCTGTGGTGAACATCCTCAGCCACCTAGATCCTTGAGCAGATCCGTGATCACTGCATTCAATCCAAGGGTGTGTGCTTTTGTTAAAGCTTTCAAAACAGATTGCCAAATTGCCCCCCAGAAATCATTTTACATTCTCACCAGCAGCATCGGAACCTGCCCTTTCCTCCCTGCCCCAACCCCCATCCCTTGCCAACCAGGGAGTATCATTGTTGTGACTCTTGGTGAAATAAAGATGAAGAGGAATAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTGGATCACCTGAAGTCAGGAGTTTGAGACCGCCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACGGAGGTTGCAGTAAGCCGAGATGGTGCCACTGCACTCCAGGCTGGGTGATAGAGCAAGATTCCATCTCAAAAGAAAAAGAAAAAGAATATGGCAAAGGATGAATTTCTTAGTAGAAACTTAATCACCTCAGTGTTTTTCTGAGATCCAGGGGGAGAACTGAGATCCACCCCAGCCTCAGCAAGGGTGCCAGGGGTCAGTAATGATGAATTGAATTGTTTTGTTTTACTTTGTTTCTAGGATTCAAATGTGTTTTCTACCCCCATGAAATGCCAAAGTAGTAGCATACACAAGTTGAAAAAGCATCACCAATGACTGACCAAAAATAGGACATGCCACGACCCCCAGAGAAACGGGGCCAACCGTCTGGGGCCTGGCCTGCAGGCTTGTTTTAGAACGCCAGGTGCAGCTGTCAGGCCCCAGCCGGCCTCACCCCGGGCCCCTGCCCTGGCTCACACACACCAGCCTCCCAGGCCTCGCAGTGCCTCCAGCCTGCCGGGGTCTCTCTCCCCTTGGGGTTTCTGTGCACGCTGTCCCCCTGCAGGCCGTCCACTTGGATTTATTTTTA
GAGGGGAGTGATGTGGGCTCCTCCAGAAGGGCCCAACTTCTAAATCTTTCTCACTCCAAAGTCTGCGGTTTTGCCAGCTCAGTGTCCCGCCCCCACCACCATCTGATTATACTGGGGCATATTTCGTGCAAGGCCTAGAACAGGCACCCAGGAAATACTGATATTATGAATGAATGCCCCTGACTCCAGGGGCAGCAGTCCTGAGGCCCAGTGAGGTGGGGCCCAGCCAGACACTTTCCCTGGGAGGAGTGAGGGCCAGGGGACAGACAGAGCCCTCCAGGTAGGCCAGGGGGAGCGAGCAGTGCCTCCACGGAGAGGACACCAGGCTCGGGCACGGAATGCCAGGGAGAAGGTGCTTTGCCCTCTTTCTGGGTCAGGTGGAAACCTTGAACAGACACGTCTGTGGCTGGAATTCCTCAGGTTTCTGTCCCGACAGTGTCCAGAGGACAGAAGGCTCTCATCGAGACGGGACTAAAGTGGGGCCCAGCTCCCTGGGATCCCCATGGCGAACTCCCAGCGCCCTGGCCCAGGTTTGGGCCCACAGGGAACCCTCGCCCTTGCTGGCGCTGCTGCCTGTGCTGGCTCTGCCCCGACCGGCCCAGGAGGCAGGGTGTCATCAGTGAGATTCAGCCTGCGACTTGTCCCCTGGGTATTCCTGGTGGCCCCTTGGAGCCCAGGTTTCTGGCAAGCAGCTTCCCTGGGCCCAGTTTCCCAACCTCCTTGTGGTCTGAAGCCCGCAGCAGAGACACCCAGGCAGGGTGGAGTCGGAGCTGGGGTGCAGGAGGGGCCTCTGTGGAGCGCCGTGGCTCCAACACCCTTTTCCTTGGCGTCACCCACGCTGGCCTTCCGGGTGCCTCGGGGCGTCAGCACCTTGGGGTTTTCCCCTGGCCTGTGTGGGGAGAACTGTCTTTTTTCTCCCTTCTTTCCAGGAGGAGCTCATGCAGGGATGGGTTCTGAGGCCCGGGCCGCCTCTTGGTTCCCTGCCTGTGCTTTGCTCCCTGCGGAGTCCTCCGAGGCTCCTGTCTGCCATCTCCACGGACCAGGCCAGGGCCTTGGGCTGTCTGCACAGGCTCCTCCTCTGTGTGGTCAGCCCTCACCCCCACCCCAGCTGCTCAGTCTGTTGCCTCCTGCCCCCTCCTCATGAAGCCCACCCTCTGGTGCCCGCCCAGGCCCCCATGCCCACTCTCTCATGGTGACTAGCCCCGAGCCTGCCCAATGTCACGGAGCCCTCGCCTGCTACTAAGCAGCACGTAGGCGCGCTCTGAGGGAGTCCTCAGCATCAGGTGTGAGCAGACACCACGGGCATCCCCACTTTCCAGACGAGGAGCCAGGCCCTCAGAGGACAAGTGACCTAGTAGCCAAGGCCACGCAATAGCAGATCACAGACCTCAGACCAGAACCTGATCCGTGATTGTGAATCTGAGCCGAAGCCCTGTGCAGGCTTACCTGGGGGCAGCTTGTCTAGAGGTGACTTCGGTTGTTCTTAAAGTGTGTTCTCCAAAGCAGGGTTTGTATGTACACACAAGCAGCAGCTGAGAGGTGTGTAGGCAGTGCATGGGTCAATTTTTTTTATTTCAATAATTGTTTTTCTTTTTGTATCATAGAAAGAGTATCATGAGTATATCAAACTTGTAATTTCATGGACATTGCTTAAGCCCAAGCTAATAAAAATAGCAAGTCAATTTTAAAAATTGCGTATAACTAGTCAATATTACCAGGTGATATGCAGAAACAGGAAGAAAATCGTGAAGTCTAAAGGTAGGAAAGACAGGCATGATGAAAGTTGAGAAACAGTGATTTCCGTCTCAGGCCCATGCCCTGCCCTGTCTGCTGGTCCTGCAGCTCATGGTGGACACCAAAGGGGGAGCTGAAGGAGGCAGATCCTTCCACTGGGCTTCAGGTTCCAAAGCGGGTAGCCGAGCAGGGTCACCCCTCCTTCACAAGGCCCCATCGGGCCGCCCTGATGGCCTCTCCCTCTCCTTCCCTGTGTAGAAGAGATCGTCGCGCATGCCAGCAACGTGTCCTCACTGGTGCTGGGCAAAGCCTCCTGGCGGCTGCTGGCTACAGGCGGGGATGACTGCCGCGTCAACCTGTGGTCCATCAACAAGCCCAACTGCATCATGGTGAGCCCCGACAGCTGGCGGGGGGTCAGGACAAGGGCCTGGGGAGGGGACGGGGACAGGGGTTGGAGGCTGAAGAGTGAGCAGCTTCTCAGACTCTCTTGAGCCCAGGGCCCCCTATCCGCTGGGGCCCAGCTCAGGGGTGGAGGGGGCGTGGTGGGGACACCATCAGTGCTTCCCCCAGCTGTCTGCTCAGTGAGGCCCAGGACAGCCCAGCATGGCTGGGACAGTGGCCAGCCCTCAGGAGCGAGGGAGTCACCTGCCTGTGGTACTATTAAGAACTCCAGGCAGGCTGCGTGAGAAGATTAAAATAAGCCCTGGGCCTGTGGTTGAGCCAAAAGACTTGTACCCCTCCCCTCCCACCTGCCCATCTGCCTGCCTGGCAGCAACATGTGGGCGTTTATTTTAATTCATTCCCAGCCTTCATTCCCCAATGAGGATTTGAGGGGACCTGGCTGGAGCTGGTTAGGGAGCTAGTTCTTAAATAGCATCTCCCCACTATTTATGCAGCTATATGTTCAATGCTGGAAACTGTTTTCCAAATAGGAGTGCATAAAGGAGAAAACACAAAATTAACTACATATAGTTCCGTTATCCAAAGGCCACCACAGTTGGTGTTTTGGTGTGAGTCCTTCTAGATGCTGAGACAGATACATATACGTGTACATGCACGTAAGTGCACACTTGTACATGCATGTACACATGTATACACACAAATACTCATACAAGCACACACACATAAATAAAAATACACTGCCACTCTTGTGCAGCCTGGTTTTTAAAAATAACAATGTTGTAAGGATTTGCCTGTGTCAACAAGTATTCTTTTACAACATAATTTTGAATGGCTTAATGGTGTTCCATTGTAGGGATGAGCCGTAATTAGCTTAGCCACACCCTGTTATCAGCAGAGAGGTTGTTTCCGGCTTTTTTTGGCTCTGCTAAAGCACCCTGTGGTGAACATCCTCAGCCACCTAGATCCTTGAGCAGATCCGTGATCACTGCATTCAATCCAAGGGTGTGTGCTTTTGTTAAAGCTTTCAAAACAGATTGCCAAATTGCCCCCCAGAAATCATTTTACATTCTCACCAGCAGCATCGGAACCTGCCCTTTCCTCCCTGCCCCAACCCCCATCCCTTGCCAACCAGGGAGTATCATTGTTGTGACTCTTGGTGAAATAAAGATGAAGAGGAATAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTGGATCACCTGAAGTCAGGAGTTTGAGACCGCCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACGGAGGTTGCAGTAAGCCGAGATGGTGCCACTGCACTCCAGGCTGGGTGATAGAGCAAGATTCCATCTCAAAAGAAAAAGAAAAAGAATATGGCAAAGGATGAATTTCTTAGTAGAAACTTAATCACCTCAGTGTTTTTCTGAGATCCAGGGGGAGAACTGAGATCCACCCCAGCCTCAGCAAGGGTGCCAGGGGTCAGTAATGATGAATTGAATTGTTTTGTTTTACTTTGTTTCTAGGATTCAAATGTGTTTTCTACCCCCATGAAATGCCAAAGTAGTAGCATACACAAGTTGAAAAAGCATCACCAATGACTGACCAAAAATAGGACATGCCACGACCCCCAGAGAAACGGGGCCAACCGTCTGGGGCCTGGCCTGCAGGCTTGTTTTAGAACGCCAGGTGCAGCTGTCAGGCCCCAGCCGGCCTCACCCCGGGCCCCTGCCCTGGCTCACACACACCAGCCTCCCAGGCCTCGCAGTGCCTCCAGCCTGCCGGGGTCTCTCTCCCCTTGGGGTTTCTGTGCACGCTGTCCCCCTGCAGGCCGTCCACTTGGATTTATTTTTA
Task1_train_22756
Here is a variant affecting KATNB1 (katanin regulatory subunit B1) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Lissencephaly 6 with microcephaly
GTCTGCAGCCGCATGCCTGGGAGCTACCCTCCGTCCCCCGCACTCTGGACAGGGCCCTGGGTCCCAGGTGGCCTGGCCAGGAGCGCTCACAGCCAGGGGCCTCTTTCCTCTGCAGGTCGGACGCCACCCCGGAGAAGTGAGCCCTTCCCTGCACCCCCAGAGGACGGTGAGTTGGGTGAGCCTGGTTTCCCAAGGTCTCTGATGCCCCCCCGTCCCTCATCTTCTCTTCCTGTGAACCCTCCCAACAAGCCCCTTCCCAGGACCCTCCCCTCTCAGGACACGACCCACACCCTCTCCCGCTGGGTCTCTGCCCTCTGCCTGTTATGTGCCAGGTCCCTGCAAGACCGATAGTGCCCCCGTAGGAGCCTGTGCCCTGGTGTGTGGGGGACAAACATGGACACCACCACACTGGGGGGCCTGCCAGGGGCACTCGGGCTGTGGAGGATGGAGAGGAGTCACTGGGGGCCCACCTTAGATGGGGTCTGCTGTAGACGGGATGATCGGGAGGCTCTCAGGAGGCCCAATGCCTGTCAAGGCCTGGGGGCCAGTGAGAAGAGAGAGAGAGAAGTGCTTCTGGCAGGAAGGGAGCTGAGAGGAGGTGAGCTGGGGCGAGTCCCAGCAAGAGGTCAGGCCCACAAGGCCTCAGCTGGGGGTTTGGATTAAGAAGGGAGAAAAATGATCTGCACTGTGGTTGGAGAACGGGCAGGCATGGGGCCACCTGTCCTGTAGAGTACCCCTGCCCTCCCCTCAGGGACCGTCCTTGCCGTCAGTCCTGGCTTTCCTAGGAGCCTCCACTTCCATCTTGCCAGTCATCCCAGCCCCCTCCACATACATGCCAGTGAAGGGACAGGATGGCCACATCCTAGAGCCCCCTGGGTCCCACCCACAGGCAGACCTAAGGTTGAGTTGGGGGAGAGGGAGGAGGCAGGTCCAGGCCTGCCCCAGGTCCTCTGGAACCCCCACGCCACTGGCCTGCAGCCTCCCCCATGCTCCTGCTCCATCCCCCCATTGCAGATGCTGCCCAGAGTCCCGCCCTGAGCCCTGCCCTTCTTGCCAGGCCCTTCTGGCCGGACCCAGTCATCTTTTCCTTTTGCCTCCAGACGCAGCCACAGCAAAGGAGGCAGCAAAGCCCAGCCCTGCCATGGATGTGCAGTTCCCGGTGCCAAATGTATGTCCATGGAGGGAGCATGGTGTGGGGCCTAGAGAAGGTCCTGACCCAGGGTTGGGGGTGCCTCGGGAGGCAGAGAGGGAGGCCCCAGGCCGGCAACCGCTGAGTTTCACACTTTCAGCTGGAGGTCCTGCCCCGGCCCCCAGTGGTTGCTTCCACACCTGCACCCAAGGCTGAGCCTGCCATCATCCCTGCCACCCGGAACGAGCCCATCGGGCTGAAGGCCTCCGACTTCCTGCCCGTGAGTAGGAGCCCAGCTCGAGGCATGGGTGGAGGTCTGTGGGTGGAGGGCAGAGCTTTGCTGCTGGCTCCTCCCATGCCAGCATCTGGGTGTCCATCCCACGCAGGCCGTGAAGATCCCCCAGCAGGCCGAGCTGGTGGACGAGGATGCCATGTCACAGATCCGCAAAGGCCACGACACCATGTGTGTGGTGCTCACCAGCCGCCACAAGAACCTGGACACTGTGCGGGCTGTGTGGACCATGGGCGACATCAAGGCAAGTGCCCACCCTTGCACAGGGCCTCATCTCGCCCCCCTGCCCCTGCCACCTGCCTGCCCGGGCTTGGGGCAGAACAAGAAGAGGCCACCCATGGGGGACAGTGTGGGATAGGCCATCCCTGACGTCACACCATCTGTTTCCGCCATCATCATCATCATCACAGACTGCCGTTTAGTGAGCATCTGTTTACATGCCTGGCCTTACACTCATTGCGTTAGGTGCAGTGCTGAATACCCACAGCCCCATCAGCACACCCACATTCACGTTCGTACCCCCACCCTCACCCTCACAGGGCCACACTGTCCCCCACTGCCCCACCCCTGACGGTGCTCTGTTTGCACAGACGTCGGTGGACTCCGCTGTGGCCATCAACGACCTGTCGGTGGTGGTGGACCTCCTGAACATCGTCAACCAGAAAGCGTAAGTGGCTGCAGAGGGGGAGTGGGCGGAGGGGCAGGGCTGGGCTGATGGCAGCATGTCCTGGCCTCTCCTAGCTCCCTGTGGAAGCTGGACCTGTGCACCACCGTCCTGCCACAGATTGAGAAGCTTCTGCAGAGCAAGTATGAGAGGTGCGTGTGGGGAAGCCATGCCTGCCTGAAGCAGGGGGAGGGGAGAGGTAAGAAGCCTCCTCCAGAACCATGGGAAGGACCCCCAAGAGCCTGGGTGTTCCTGTGAGCTGGCTGTGAAGCATTGCTGCCCCTCAACAGTCCGGAGGTGGGAGTGGAAACAGGCGTGTGTGGGTGTATGTGTGGGTGTGTCTGTGTCTGTTTCTGCCCCTCTCCTCCTTTGTTCCTTGCTGTTTCTCTTTCTGTCTGTGGCCCTTGGTCCATCTGTGACTTCATCCATCTCCCCCTAAAGCTACGTCCAGACGGGCTGCACCTCCCTGAAGCTGATCCTGCAGCGGTTTCTGCCCCTCATCACAGACATGCTGGCGGCCCCACCCTCTGTGGGTGTGGATATCAGCAGGGAGGAGAGGTGAGGGCAGCGCATGTGTTGGGGGCAGGGGTGCCACAACAGGTGAGGGGACAAAGGCCTGGAGGCCTGGGCCCCTCTTACTGACAGTCCTGCTGGGACAGAGTACAGAGGAGGCGTTGGTCTGGGGCCATGGCTCAGGGTGTGGGTGGGCTTAGCCAGAGCTGGGTTCCTCCATGGCCTGGCTGTGCCCACAATCCCTGGCAGGGCCTGGGTGGTTCCCCTCTGGGCCTCCGCCTTCCCTTGGGAGGAAGGGCTGGAGCAGTTAGGACAGCAAAGGCCCTGGGGTTGGGTGTGGGTGGTGGTGGTGCCAGCTAGCCCCTCAGGCACTGCCCTCTCTACAGGCTGCATAAGTGCCGGCTCTGCTACAAGCAGCTTAAGAGCATCAGCGGCCTGGTCAAGAGCAAGTCAGGCCTGAGCGGCCGCCATGGCAGTACCTTCCGCGAGCTGCACCTGCTCATGGCCAGTCTGGACTGAGGAAAGCAGTGGGCAGGGGCGCTCGGCAGCCCACAGGGCCTGGCCTCAGCCCCCACTCCTGTTCCTTGTGCACCCACTGGCCCATGAGCCTCTGCCTGGCCCCTGCTGCTGTCCTGTGGCCGTCCTGGAGGAGGTGATGCTGGTCCCTGGCCACCTCTACAGCCCTGAACTCTTGAGACAACTCTCTCCAGCAATAGCTGCCCAGCTTTGCCCAACTGTTGCTTCTTGGGGCAGCGAACTGAGCCCTGGGGCTGCTGCTGTAATTTATAAGGCAAATTTTATTAAATTTGTAACTATTCCCAGGTTTCCTTGTGGGGAATGTTTTCTGCTGGCCACAGGGCTCCCCGGGCCCAGGAGTGCCTGCCCCATGGTTTGAGATGAGGCCACACCCCCTCCAAGCCCGGGGGTGGGGCTCTGGGCCATGTGGCCAGCAGGGGGCAGCAGAGAATCAGGCCTCTGGGACAGCACCAGTTCAGCCAGTGCAGACTGGGAAGGAAGGGGAGGCGGCAACCACCCTTCCACCACTGGGTGTTGAGGTTAGGGGTGGCCCCCACCAGCCCGTTCCTCCCCACCTCAGCTACACTCAAGCTGTCTTATGGACACCCCCAGGATGCCTCCAGGGGCAGGACTAGAAGGGCACCTGCCCCTTCCTCTGAGCAGGGCTCCGATCAGCTGTCACTCCCTGCTGGAGTCCCCAGCACTGGCTGGCGGGAAAGGGCTCCCTGCTCCGTGGGCACTGCGACAGGTGGGCCCCCTCCTGCTCCCAAGGCAGGGACCAGGTACAGCCCCGCCCCGGGGTGGTCAGGGTCCTCGGCACTGGAGGAAGGTGGCGTGGACCTCTGGCCAGTTCACTGAAGAGGGAAAAGGCCAGGGCAAAGAGTGGGCAGTGGGTGGTGCCCAGCAGTAACCTGGAAGCCCAGCATGGTTTGGGCAAGGCTTTGATAGCCTTTGAAGCTCTCTCCAGCCTTAGTTTCCTTCC
GTCTGCAGCCGCATGCCTGGGAGCTACCCTCCGTCCCCCGCACTCTGGACAGGGCCCTGGGTCCCAGGTGGCCTGGCCAGGAGCGCTCACAGCCAGGGGCCTCTTTCCTCTGCAGGTCGGACGCCACCCCGGAGAAGTGAGCCCTTCCCTGCACCCCCAGAGGACGGTGAGTTGGGTGAGCCTGGTTTCCCAAGGTCTCTGATGCCCCCCCGTCCCTCATCTTCTCTTCCTGTGAACCCTCCCAACAAGCCCCTTCCCAGGACCCTCCCCTCTCAGGACACGACCCACACCCTCTCCCGCTGGGTCTCTGCCCTCTGCCTGTTATGTGCCAGGTCCCTGCAAGACCGATAGTGCCCCCGTAGGAGCCTGTGCCCTGGTGTGTGGGGGACAAACATGGACACCACCACACTGGGGGGCCTGCCAGGGGCACTCGGGCTGTGGAGGATGGAGAGGAGTCACTGGGGGCCCACCTTAGATGGGGTCTGCTGTAGACGGGATGATCGGGAGGCTCTCAGGAGGCCCAATGCCTGTCAAGGCCTGGGGGCCAGTGAGAAGAGAGAGAGAGAAGTGCTTCTGGCAGGAAGGGAGCTGAGAGGAGGTGAGCTGGGGCGAGTCCCAGCAAGAGGTCAGGCCCACAAGGCCTCAGCTGGGGGTTTGGATTAAGAAGGGAGAAAAATGATCTGCACTGTGGTTGGAGAACGGGCAGGCATGGGGCCACCTGTCCTGTAGAGTACCCCTGCCCTCCCCTCAGGGACCGTCCTTGCCGTCAGTCCTGGCTTTCCTAGGAGCCTCCACTTCCATCTTGCCAGTCATCCCAGCCCCCTCCACATACATGCCAGTGAAGGGACAGGATGGCCACATCCTAGAGCCCCCTGGGTCCCACCCACAGGCAGACCTAAGGTTGAGTTGGGGGAGAGGGAGGAGGCAGGTCCAGGCCTGCCCCAGGTCCTCTGGAACCCCCACGCCACTGGCCTGCAGCCTCCCCCATGCTCCTGCTCCATCCCCCCATTGCAGATGCTGCCCAGAGTCCCGCCCTGAGCCCTGCCCTTCTTGCCAGGCCCTTCTGGCCGGACCCAGTCATCTTTTCCTTTTGCCTCCAGACGCAGCCACAGCAAAGGAGGCAGCAAAGCCCAGCCCTGCCATGGATGTGCAGTTCCCGGTGCCAAATGTATGTCCATGGAGGGAGCATGGTGTGGGGCCTAGAGAAGGTCCTGACCCAGGGTTGGGGGTGCCTCGGGAGGCAGAGAGGGAGGCCCCAGGCCGGCAACCGCTGAGTTTCACACTTTCAGCTGGAGGTCCTGCCCCGGCCCCCAGTGGTTGCTTCCACACCTGCACCCAAGGCTGAGCCTGCCATCATCCCTGCCACCCGGAACGAGCCCATCGGGCTGAAGGCCTCCGACTTCCTGCCCGTGAGTAGGAGCCCAGCTCGAGGCATGGGTGGAGGTCTGTGGGTGGAGGGCAGAGCTTTGCTGCTGGCTCCTCCCATGCCAGCATCTGGGTGTCCATCCCACGCAGGCCGTGAAGATCCCCCAGCAGGCCGAGCTGGTGGACGAGGATGCCATGTCACAGATCCGCAAAGGCCACGACACCATGTGTGTGGTGCTCACCAGCCGCCACAAGAACCTGGACACTGTGCGGGCTGTGTGGACCATGGGCGACATCAAGGCAAGTGCCCACCCTTGCACAGGGCCTCATCTCGCCCCCCTGCCCCTGCCACCTGCCTGCCCGGGCTTGGGGCAGAACAAGAAGAGGCCACCCATGGGGGACAGTGTGGGATAGGCCATCCCTGACGTCACACCATCTGTTTCCGCCATCATCATCATCATCACAGACTGCCGTTTAGTGAGCATCTGTTTACATGCCTGGCCTTACACTCATTGCGTTAGGTGCAGTGCTGAATACCCACAGCCCCATCAGCACACCCACATTCACGTTCGTACCCCCACCCTCACCCTCACAGGGCCACACTGTCCCCCACTGCCCCACCCCTGACGGTGCTCTGTTTGCACAGACGTCGGTGGACTCCGCTGTGGCCATCAACGACCTGTTGGTGGTGGTGGACCTCCTGAACATCGTCAACCAGAAAGCGTAAGTGGCTGCAGAGGGGGAGTGGGCGGAGGGGCAGGGCTGGGCTGATGGCAGCATGTCCTGGCCTCTCCTAGCTCCCTGTGGAAGCTGGACCTGTGCACCACCGTCCTGCCACAGATTGAGAAGCTTCTGCAGAGCAAGTATGAGAGGTGCGTGTGGGGAAGCCATGCCTGCCTGAAGCAGGGGGAGGGGAGAGGTAAGAAGCCTCCTCCAGAACCATGGGAAGGACCCCCAAGAGCCTGGGTGTTCCTGTGAGCTGGCTGTGAAGCATTGCTGCCCCTCAACAGTCCGGAGGTGGGAGTGGAAACAGGCGTGTGTGGGTGTATGTGTGGGTGTGTCTGTGTCTGTTTCTGCCCCTCTCCTCCTTTGTTCCTTGCTGTTTCTCTTTCTGTCTGTGGCCCTTGGTCCATCTGTGACTTCATCCATCTCCCCCTAAAGCTACGTCCAGACGGGCTGCACCTCCCTGAAGCTGATCCTGCAGCGGTTTCTGCCCCTCATCACAGACATGCTGGCGGCCCCACCCTCTGTGGGTGTGGATATCAGCAGGGAGGAGAGGTGAGGGCAGCGCATGTGTTGGGGGCAGGGGTGCCACAACAGGTGAGGGGACAAAGGCCTGGAGGCCTGGGCCCCTCTTACTGACAGTCCTGCTGGGACAGAGTACAGAGGAGGCGTTGGTCTGGGGCCATGGCTCAGGGTGTGGGTGGGCTTAGCCAGAGCTGGGTTCCTCCATGGCCTGGCTGTGCCCACAATCCCTGGCAGGGCCTGGGTGGTTCCCCTCTGGGCCTCCGCCTTCCCTTGGGAGGAAGGGCTGGAGCAGTTAGGACAGCAAAGGCCCTGGGGTTGGGTGTGGGTGGTGGTGGTGCCAGCTAGCCCCTCAGGCACTGCCCTCTCTACAGGCTGCATAAGTGCCGGCTCTGCTACAAGCAGCTTAAGAGCATCAGCGGCCTGGTCAAGAGCAAGTCAGGCCTGAGCGGCCGCCATGGCAGTACCTTCCGCGAGCTGCACCTGCTCATGGCCAGTCTGGACTGAGGAAAGCAGTGGGCAGGGGCGCTCGGCAGCCCACAGGGCCTGGCCTCAGCCCCCACTCCTGTTCCTTGTGCACCCACTGGCCCATGAGCCTCTGCCTGGCCCCTGCTGCTGTCCTGTGGCCGTCCTGGAGGAGGTGATGCTGGTCCCTGGCCACCTCTACAGCCCTGAACTCTTGAGACAACTCTCTCCAGCAATAGCTGCCCAGCTTTGCCCAACTGTTGCTTCTTGGGGCAGCGAACTGAGCCCTGGGGCTGCTGCTGTAATTTATAAGGCAAATTTTATTAAATTTGTAACTATTCCCAGGTTTCCTTGTGGGGAATGTTTTCTGCTGGCCACAGGGCTCCCCGGGCCCAGGAGTGCCTGCCCCATGGTTTGAGATGAGGCCACACCCCCTCCAAGCCCGGGGGTGGGGCTCTGGGCCATGTGGCCAGCAGGGGGCAGCAGAGAATCAGGCCTCTGGGACAGCACCAGTTCAGCCAGTGCAGACTGGGAAGGAAGGGGAGGCGGCAACCACCCTTCCACCACTGGGTGTTGAGGTTAGGGGTGGCCCCCACCAGCCCGTTCCTCCCCACCTCAGCTACACTCAAGCTGTCTTATGGACACCCCCAGGATGCCTCCAGGGGCAGGACTAGAAGGGCACCTGCCCCTTCCTCTGAGCAGGGCTCCGATCAGCTGTCACTCCCTGCTGGAGTCCCCAGCACTGGCTGGCGGGAAAGGGCTCCCTGCTCCGTGGGCACTGCGACAGGTGGGCCCCCTCCTGCTCCCAAGGCAGGGACCAGGTACAGCCCCGCCCCGGGGTGGTCAGGGTCCTCGGCACTGGAGGAAGGTGGCGTGGACCTCTGGCCAGTTCACTGAAGAGGGAAAAGGCCAGGGCAAAGAGTGGGCAGTGGGTGGTGCCCAGCAGTAACCTGGAAGCCCAGCATGGTTTGGGCAAGGCTTTGATAGCCTTTGAAGCTCTCTCCAGCCTTAGTTTCCTTCC
Task1_train_22757
With a mutation on Chromosome 16 in gene KATNB1 (katanin regulatory subunit B1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Lissencephaly 6 with microcephaly
CCTGGGAGCTACCCTCCGTCCCCCGCACTCTGGACAGGGCCCTGGGTCCCAGGTGGCCTGGCCAGGAGCGCTCACAGCCAGGGGCCTCTTTCCTCTGCAGGTCGGACGCCACCCCGGAGAAGTGAGCCCTTCCCTGCACCCCCAGAGGACGGTGAGTTGGGTGAGCCTGGTTTCCCAAGGTCTCTGATGCCCCCCCGTCCCTCATCTTCTCTTCCTGTGAACCCTCCCAACAAGCCCCTTCCCAGGACCCTCCCCTCTCAGGACACGACCCACACCCTCTCCCGCTGGGTCTCTGCCCTCTGCCTGTTATGTGCCAGGTCCCTGCAAGACCGATAGTGCCCCCGTAGGAGCCTGTGCCCTGGTGTGTGGGGGACAAACATGGACACCACCACACTGGGGGGCCTGCCAGGGGCACTCGGGCTGTGGAGGATGGAGAGGAGTCACTGGGGGCCCACCTTAGATGGGGTCTGCTGTAGACGGGATGATCGGGAGGCTCTCAGGAGGCCCAATGCCTGTCAAGGCCTGGGGGCCAGTGAGAAGAGAGAGAGAGAAGTGCTTCTGGCAGGAAGGGAGCTGAGAGGAGGTGAGCTGGGGCGAGTCCCAGCAAGAGGTCAGGCCCACAAGGCCTCAGCTGGGGGTTTGGATTAAGAAGGGAGAAAAATGATCTGCACTGTGGTTGGAGAACGGGCAGGCATGGGGCCACCTGTCCTGTAGAGTACCCCTGCCCTCCCCTCAGGGACCGTCCTTGCCGTCAGTCCTGGCTTTCCTAGGAGCCTCCACTTCCATCTTGCCAGTCATCCCAGCCCCCTCCACATACATGCCAGTGAAGGGACAGGATGGCCACATCCTAGAGCCCCCTGGGTCCCACCCACAGGCAGACCTAAGGTTGAGTTGGGGGAGAGGGAGGAGGCAGGTCCAGGCCTGCCCCAGGTCCTCTGGAACCCCCACGCCACTGGCCTGCAGCCTCCCCCATGCTCCTGCTCCATCCCCCCATTGCAGATGCTGCCCAGAGTCCCGCCCTGAGCCCTGCCCTTCTTGCCAGGCCCTTCTGGCCGGACCCAGTCATCTTTTCCTTTTGCCTCCAGACGCAGCCACAGCAAAGGAGGCAGCAAAGCCCAGCCCTGCCATGGATGTGCAGTTCCCGGTGCCAAATGTATGTCCATGGAGGGAGCATGGTGTGGGGCCTAGAGAAGGTCCTGACCCAGGGTTGGGGGTGCCTCGGGAGGCAGAGAGGGAGGCCCCAGGCCGGCAACCGCTGAGTTTCACACTTTCAGCTGGAGGTCCTGCCCCGGCCCCCAGTGGTTGCTTCCACACCTGCACCCAAGGCTGAGCCTGCCATCATCCCTGCCACCCGGAACGAGCCCATCGGGCTGAAGGCCTCCGACTTCCTGCCCGTGAGTAGGAGCCCAGCTCGAGGCATGGGTGGAGGTCTGTGGGTGGAGGGCAGAGCTTTGCTGCTGGCTCCTCCCATGCCAGCATCTGGGTGTCCATCCCACGCAGGCCGTGAAGATCCCCCAGCAGGCCGAGCTGGTGGACGAGGATGCCATGTCACAGATCCGCAAAGGCCACGACACCATGTGTGTGGTGCTCACCAGCCGCCACAAGAACCTGGACACTGTGCGGGCTGTGTGGACCATGGGCGACATCAAGGCAAGTGCCCACCCTTGCACAGGGCCTCATCTCGCCCCCCTGCCCCTGCCACCTGCCTGCCCGGGCTTGGGGCAGAACAAGAAGAGGCCACCCATGGGGGACAGTGTGGGATAGGCCATCCCTGACGTCACACCATCTGTTTCCGCCATCATCATCATCATCACAGACTGCCGTTTAGTGAGCATCTGTTTACATGCCTGGCCTTACACTCATTGCGTTAGGTGCAGTGCTGAATACCCACAGCCCCATCAGCACACCCACATTCACGTTCGTACCCCCACCCTCACCCTCACAGGGCCACACTGTCCCCCACTGCCCCACCCCTGACGGTGCTCTGTTTGCACAGACGTCGGTGGACTCCGCTGTGGCCATCAACGACCTGTCGGTGGTGGTGGACCTCCTGAACATCGTCAACCAGAAAGCGTAAGTGGCTGCAGAGGGGGAGTGGGCGGAGGGGCAGGGCTGGGCTGATGGCAGCATGTCCTGGCCTCTCCTAGCTCCCTGTGGAAGCTGGACCTGTGCACCACCGTCCTGCCACAGATTGAGAAGCTTCTGCAGAGCAAGTATGAGAGGTGCGTGTGGGGAAGCCATGCCTGCCTGAAGCAGGGGGAGGGGAGAGGTAAGAAGCCTCCTCCAGAACCATGGGAAGGACCCCCAAGAGCCTGGGTGTTCCTGTGAGCTGGCTGTGAAGCATTGCTGCCCCTCAACAGTCCGGAGGTGGGAGTGGAAACAGGCGTGTGTGGGTGTATGTGTGGGTGTGTCTGTGTCTGTTTCTGCCCCTCTCCTCCTTTGTTCCTTGCTGTTTCTCTTTCTGTCTGTGGCCCTTGGTCCATCTGTGACTTCATCCATCTCCCCCTAAAGCTACGTCCAGACGGGCTGCACCTCCCTGAAGCTGATCCTGCAGCGGTTTCTGCCCCTCATCACAGACATGCTGGCGGCCCCACCCTCTGTGGGTGTGGATATCAGCAGGGAGGAGAGGTGAGGGCAGCGCATGTGTTGGGGGCAGGGGTGCCACAACAGGTGAGGGGACAAAGGCCTGGAGGCCTGGGCCCCTCTTACTGACAGTCCTGCTGGGACAGAGTACAGAGGAGGCGTTGGTCTGGGGCCATGGCTCAGGGTGTGGGTGGGCTTAGCCAGAGCTGGGTTCCTCCATGGCCTGGCTGTGCCCACAATCCCTGGCAGGGCCTGGGTGGTTCCCCTCTGGGCCTCCGCCTTCCCTTGGGAGGAAGGGCTGGAGCAGTTAGGACAGCAAAGGCCCTGGGGTTGGGTGTGGGTGGTGGTGGTGCCAGCTAGCCCCTCAGGCACTGCCCTCTCTACAGGCTGCATAAGTGCCGGCTCTGCTACAAGCAGCTTAAGAGCATCAGCGGCCTGGTCAAGAGCAAGTCAGGCCTGAGCGGCCGCCATGGCAGTACCTTCCGCGAGCTGCACCTGCTCATGGCCAGTCTGGACTGAGGAAAGCAGTGGGCAGGGGCGCTCGGCAGCCCACAGGGCCTGGCCTCAGCCCCCACTCCTGTTCCTTGTGCACCCACTGGCCCATGAGCCTCTGCCTGGCCCCTGCTGCTGTCCTGTGGCCGTCCTGGAGGAGGTGATGCTGGTCCCTGGCCACCTCTACAGCCCTGAACTCTTGAGACAACTCTCTCCAGCAATAGCTGCCCAGCTTTGCCCAACTGTTGCTTCTTGGGGCAGCGAACTGAGCCCTGGGGCTGCTGCTGTAATTTATAAGGCAAATTTTATTAAATTTGTAACTATTCCCAGGTTTCCTTGTGGGGAATGTTTTCTGCTGGCCACAGGGCTCCCCGGGCCCAGGAGTGCCTGCCCCATGGTTTGAGATGAGGCCACACCCCCTCCAAGCCCGGGGGTGGGGCTCTGGGCCATGTGGCCAGCAGGGGGCAGCAGAGAATCAGGCCTCTGGGACAGCACCAGTTCAGCCAGTGCAGACTGGGAAGGAAGGGGAGGCGGCAACCACCCTTCCACCACTGGGTGTTGAGGTTAGGGGTGGCCCCCACCAGCCCGTTCCTCCCCACCTCAGCTACACTCAAGCTGTCTTATGGACACCCCCAGGATGCCTCCAGGGGCAGGACTAGAAGGGCACCTGCCCCTTCCTCTGAGCAGGGCTCCGATCAGCTGTCACTCCCTGCTGGAGTCCCCAGCACTGGCTGGCGGGAAAGGGCTCCCTGCTCCGTGGGCACTGCGACAGGTGGGCCCCCTCCTGCTCCCAAGGCAGGGACCAGGTACAGCCCCGCCCCGGGGTGGTCAGGGTCCTCGGCACTGGAGGAAGGTGGCGTGGACCTCTGGCCAGTTCACTGAAGAGGGAAAAGGCCAGGGCAAAGAGTGGGCAGTGGGTGGTGCCCAGCAGTAACCTGGAAGCCCAGCATGGTTTGGGCAAGGCTTTGATAGCCTTTGAAGCTCTCTCCAGCCTTAGTTTCCTTCCCATCAGTAACATGGA
CCTGGGAGCTACCCTCCGTCCCCCGCACTCTGGACAGGGCCCTGGGTCCCAGGTGGCCTGGCCAGGAGCGCTCACAGCCAGGGGCCTCTTTCCTCTGCAGGTCGGACGCCACCCCGGAGAAGTGAGCCCTTCCCTGCACCCCCAGAGGACGGTGAGTTGGGTGAGCCTGGTTTCCCAAGGTCTCTGATGCCCCCCCGTCCCTCATCTTCTCTTCCTGTGAACCCTCCCAACAAGCCCCTTCCCAGGACCCTCCCCTCTCAGGACACGACCCACACCCTCTCCCGCTGGGTCTCTGCCCTCTGCCTGTTATGTGCCAGGTCCCTGCAAGACCGATAGTGCCCCCGTAGGAGCCTGTGCCCTGGTGTGTGGGGGACAAACATGGACACCACCACACTGGGGGGCCTGCCAGGGGCACTCGGGCTGTGGAGGATGGAGAGGAGTCACTGGGGGCCCACCTTAGATGGGGTCTGCTGTAGACGGGATGATCGGGAGGCTCTCAGGAGGCCCAATGCCTGTCAAGGCCTGGGGGCCAGTGAGAAGAGAGAGAGAGAAGTGCTTCTGGCAGGAAGGGAGCTGAGAGGAGGTGAGCTGGGGCGAGTCCCAGCAAGAGGTCAGGCCCACAAGGCCTCAGCTGGGGGTTTGGATTAAGAAGGGAGAAAAATGATCTGCACTGTGGTTGGAGAACGGGCAGGCATGGGGCCACCTGTCCTGTAGAGTACCCCTGCCCTCCCCTCAGGGACCGTCCTTGCCGTCAGTCCTGGCTTTCCTAGGAGCCTCCACTTCCATCTTGCCAGTCATCCCAGCCCCCTCCACATACATGCCAGTGAAGGGACAGGATGGCCACATCCTAGAGCCCCCTGGGTCCCACCCACAGGCAGACCTAAGGTTGAGTTGGGGGAGAGGGAGGAGGCAGGTCCAGGCCTGCCCCAGGTCCTCTGGAACCCCCACGCCACTGGCCTGCAGCCTCCCCCATGCTCCTGCTCCATCCCCCCATTGCAGATGCTGCCCAGAGTCCCGCCCTGAGCCCTGCCCTTCTTGCCAGGCCCTTCTGGCCGGACCCAGTCATCTTTTCCTTTTGCCTCCAGACGCAGCCACAGCAAAGGAGGCAGCAAAGCCCAGCCCTGCCATGGATGTGCAGTTCCCGGTGCCAAATGTATGTCCATGGAGGGAGCATGGTGTGGGGCCTAGAGAAGGTCCTGACCCAGGGTTGGGGGTGCCTCGGGAGGCAGAGAGGGAGGCCCCAGGCCGGCAACCGCTGAGTTTCACACTTTCAGCTGGAGGTCCTGCCCCGGCCCCCAGTGGTTGCTTCCACACCTGCACCCAAGGCTGAGCCTGCCATCATCCCTGCCACCCGGAACGAGCCCATCGGGCTGAAGGCCTCCGACTTCCTGCCCGTGAGTAGGAGCCCAGCTCGAGGCATGGGTGGAGGTCTGTGGGTGGAGGGCAGAGCTTTGCTGCTGGCTCCTCCCATGCCAGCATCTGGGTGTCCATCCCACGCAGGCCGTGAAGATCCCCCAGCAGGCCGAGCTGGTGGACGAGGATGCCATGTCACAGATCCGCAAAGGCCACGACACCATGTGTGTGGTGCTCACCAGCCGCCACAAGAACCTGGACACTGTGCGGGCTGTGTGGACCATGGGCGACATCAAGGCAAGTGCCCACCCTTGCACAGGGCCTCATCTCGCCCCCCTGCCCCTGCCACCTGCCTGCCCGGGCTTGGGGCAGAACAAGAAGAGGCCACCCATGGGGGACAGTGTGGGATAGGCCATCCCTGACGTCACACCATCTGTTTCCGCCATCATCATCATCATCACAGACTGCCGTTTAGTGAGCATCTGTTTACATGCCTGGCCTTACACTCATTGCGTTAGGTGCAGTGCTGAATACCCACAGCCCCATCAGCACACCCACATTCACGTTCGTACCCCCACCCTCACCCTCACAGGGCCACACTGTCCCCCACTGCCCCACCCCTGACGGTGCTCTGTTTGCACAGACGTCGGTGGACTCCGCTGTGGCCATCAACGACCTGTCGGTGGTGGTGGACCGCCTGAACATCGTCAACCAGAAAGCGTAAGTGGCTGCAGAGGGGGAGTGGGCGGAGGGGCAGGGCTGGGCTGATGGCAGCATGTCCTGGCCTCTCCTAGCTCCCTGTGGAAGCTGGACCTGTGCACCACCGTCCTGCCACAGATTGAGAAGCTTCTGCAGAGCAAGTATGAGAGGTGCGTGTGGGGAAGCCATGCCTGCCTGAAGCAGGGGGAGGGGAGAGGTAAGAAGCCTCCTCCAGAACCATGGGAAGGACCCCCAAGAGCCTGGGTGTTCCTGTGAGCTGGCTGTGAAGCATTGCTGCCCCTCAACAGTCCGGAGGTGGGAGTGGAAACAGGCGTGTGTGGGTGTATGTGTGGGTGTGTCTGTGTCTGTTTCTGCCCCTCTCCTCCTTTGTTCCTTGCTGTTTCTCTTTCTGTCTGTGGCCCTTGGTCCATCTGTGACTTCATCCATCTCCCCCTAAAGCTACGTCCAGACGGGCTGCACCTCCCTGAAGCTGATCCTGCAGCGGTTTCTGCCCCTCATCACAGACATGCTGGCGGCCCCACCCTCTGTGGGTGTGGATATCAGCAGGGAGGAGAGGTGAGGGCAGCGCATGTGTTGGGGGCAGGGGTGCCACAACAGGTGAGGGGACAAAGGCCTGGAGGCCTGGGCCCCTCTTACTGACAGTCCTGCTGGGACAGAGTACAGAGGAGGCGTTGGTCTGGGGCCATGGCTCAGGGTGTGGGTGGGCTTAGCCAGAGCTGGGTTCCTCCATGGCCTGGCTGTGCCCACAATCCCTGGCAGGGCCTGGGTGGTTCCCCTCTGGGCCTCCGCCTTCCCTTGGGAGGAAGGGCTGGAGCAGTTAGGACAGCAAAGGCCCTGGGGTTGGGTGTGGGTGGTGGTGGTGCCAGCTAGCCCCTCAGGCACTGCCCTCTCTACAGGCTGCATAAGTGCCGGCTCTGCTACAAGCAGCTTAAGAGCATCAGCGGCCTGGTCAAGAGCAAGTCAGGCCTGAGCGGCCGCCATGGCAGTACCTTCCGCGAGCTGCACCTGCTCATGGCCAGTCTGGACTGAGGAAAGCAGTGGGCAGGGGCGCTCGGCAGCCCACAGGGCCTGGCCTCAGCCCCCACTCCTGTTCCTTGTGCACCCACTGGCCCATGAGCCTCTGCCTGGCCCCTGCTGCTGTCCTGTGGCCGTCCTGGAGGAGGTGATGCTGGTCCCTGGCCACCTCTACAGCCCTGAACTCTTGAGACAACTCTCTCCAGCAATAGCTGCCCAGCTTTGCCCAACTGTTGCTTCTTGGGGCAGCGAACTGAGCCCTGGGGCTGCTGCTGTAATTTATAAGGCAAATTTTATTAAATTTGTAACTATTCCCAGGTTTCCTTGTGGGGAATGTTTTCTGCTGGCCACAGGGCTCCCCGGGCCCAGGAGTGCCTGCCCCATGGTTTGAGATGAGGCCACACCCCCTCCAAGCCCGGGGGTGGGGCTCTGGGCCATGTGGCCAGCAGGGGGCAGCAGAGAATCAGGCCTCTGGGACAGCACCAGTTCAGCCAGTGCAGACTGGGAAGGAAGGGGAGGCGGCAACCACCCTTCCACCACTGGGTGTTGAGGTTAGGGGTGGCCCCCACCAGCCCGTTCCTCCCCACCTCAGCTACACTCAAGCTGTCTTATGGACACCCCCAGGATGCCTCCAGGGGCAGGACTAGAAGGGCACCTGCCCCTTCCTCTGAGCAGGGCTCCGATCAGCTGTCACTCCCTGCTGGAGTCCCCAGCACTGGCTGGCGGGAAAGGGCTCCCTGCTCCGTGGGCACTGCGACAGGTGGGCCCCCTCCTGCTCCCAAGGCAGGGACCAGGTACAGCCCCGCCCCGGGGTGGTCAGGGTCCTCGGCACTGGAGGAAGGTGGCGTGGACCTCTGGCCAGTTCACTGAAGAGGGAAAAGGCCAGGGCAAAGAGTGGGCAGTGGGTGGTGCCCAGCAGTAACCTGGAAGCCCAGCATGGTTTGGGCAAGGCTTTGATAGCCTTTGAAGCTCTCTCCAGCCTTAGTTTCCTTCCCATCAGTAACATGGA
Task1_train_22758
A variant affecting Chromosome 16, within the gene CNGB1 (cyclic nucleotide gated channel subunit beta 1), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Retinitis pigmentosa 45
AAAAGTGCCCACTGGCCAAACTGGACTAATTTGAGCATCAAAATAATGATTGTTAACAGAGTATTCATGGAATCAAGTAAATCCATGCCTATATACATTGAGAAATGAATAAACAAATGGGAGAGAAGAGAAAGCTCTTCCACACAGCTGACTGCCAGCTAATAATCAAGGAGGGAGTGGAGTTACAAAATTTCCATTTTACAACTATCATAGCAATCTCTTTGTAACTATCATAGGGAGGAACCATCAAAGGATGCTAAAAGCAGTGGGTAAAAGTTTGACAGGGAACAGGATATCCTCATAGTCTGAAGGTGACTACCCACTAATTACTTAGGAATTAGGTTTAAGGGAAAATAGGTTTACAATACAGAAACCTTAACCAAGTAATCAAAGTAAAAATCATCGATATTGGGAGTAAATGGCATCGTGCGCCTCTCGATACATTTGCTGCAGAAGCGACTCACTTCTGAGTTCTTCCTGCCAAAAATGCACACTCTAATGGTAATCACGAGAAAACATCAGACAAACCCCAACTGAGGGGCATTCTGTAAAATAACTGGCCTGTATGGGCTGGGTGCAATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGGGGGTGGATCACGATGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACGGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAATAACTGGCCTATATGCTTAAAAGAAGTCCAAGTCACTAAAGGTTGGAAAAGCCTGAGGAACTATCCCAGATCAAGGAAGACTAAGAATACTCTGCACCTTAATTACAATATGTGATCCTAGACCTGATTCAGGAATGGAAAAGAAGAAAAGGTACAAAGGATACTCTTAAAGAATTAGCAAAATCTGAAGATGGATTGTGAATGAGATAATAGTGTTGTTTCAATACGAAATTTCCTTATTTTAATGAAGGTACTAGGCCAGGCGCAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGTCAGAGCAGATCATGTGAGCCCAGGAGTTTGATACCAGCCTAGGCAACATAGTGAGACCCCAGCTCTAGAAAAAAATTTTAAAAATTAGCTGGGAATGGTGGTACGTGCCTATAGTCCCAGCTACATGGGAGGCTGAGGCAGGAGGATCACTTGAACCTAGGAGGTTGAGACTGTAGTGAGTCATGATCACTCCACTGCACTCCAGACTGGGTGACAGAGCAAGATGTCATCTCAAAAAAAAAAAAAAAAAGATAAAGGTACTGTGGTTATGTAAGAGAAATTCATTGTCCTTAGCAATTTTTTATTAAACGAAAGAAAAGTTACATACCTGGCTTTCTTCCGGAGTAACTTCTGAGACTCAGGATAATGCACCAAAATCTCATTCAGGTCCTTCTTATCCAGGATGAAGAGGTTGGTAAACCCGTGCGCCACCACGTTGGCCGTGCGCCGGTTCCCGCCCCCAACAGCCAGCAAGCTGGGGCAGAGAAGGGAGGAAGGAGGCCCTTCAGAGACTGCCGTTTCGGTCACATTCAGATCTTCATTTCCCATGTGTGGAGGACAGTGGTGGCCCCACACAGATGAGAACCTTCCCCCGCCCCCATCCCCGCATACATCAGCAGGTGCCAGTGCTGCATCTACCAAGCCGTAGACACTCGCACTGCCCGCTGGCCGCCTTCTTTCCCAGCCCTTGCCCCAGGCCCCTCACTTTACCCCAGCTGCGTCTGACCTTATTTCTCCAAACACAGATCCAGCTTTCAGCGTCACCAGCACAGATTTCCCATCAGGGCCGCCCAAGACCTGCACTTGCCCTGCCTGGATGATGTACATCTCACGGCCGATCTCCCCCTGAAACAAAGAAGTGACAAGTCCCTCTGTTCATCCCCCAAAGTCACCAGAGAAGCAGCCAGGGCTGGATCCAGAGGCTGGAGGTCCGGCAAGGAGGAACCTAGGCACTGGGGTCCAGCCCTGCCACCACAACTTGGGGTGTCGTGTGGGGGCAGTCACTTCCCTCTCAGGCCTCAGTCACCCCATCTGTAGACTTGGAGGAGTGACTACCCCATGCCCTCCATAACTGACAGGGTTGCAGTGGGGGAGTTAGTGATGTCATGGAATGGGAAGTGCCAGCTAACCTGGGAGGTGCAGGTATAATGGAATTCTGCAAATTCCAGTTAGACTCACTGATGGAGGCAGGGCAAATCAGATAGCAGCTCCCACCATCAAATGATGTCTACACCTGGCACATCTCAGGGGCTCGGGAAGAATTTGCTAACTGCAACAGGAATGGGAACAACAATAACGATAATATTCAAATTGCCTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTTGTGCTTCAGCCTCCCAAACAGCTGCGATTACAGGCATCATGCTTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGTGCCACCATGCCCGGCAAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCCAAATTGCTTTATGCAGTGTACTACTTATCCTCAACAACCCTCAGAGTCGAGATCACTCTTTGCCCAAGAGCTGGGATCTGAACCCAGACAGTCTGGTTCCAGAGTTCATGGTTGTTATGGGTTGAATTATGTACTCCCTCCCAAATTCATATATTGAAATCCTCATCCCCAGCATCTCAGAATGTGACCTTATTTGGGAATAGGGTCATTGCAGATGTAATTCCTAAAGATGAGGTCCTTCTAGACCTAATCCAATATGACTGGTGTCCTAACAAAAGGGAAATGTGGACACAAAGACAGGCATAGAGACCAGAGGATGTGAGGAGACACAAAAAAAACTAGATGACCACCTACAAGCTGAGGAGAGAAGCCACCCAGCTTGTGGTGGAGTTGCACAGTGTCCCGCGGCAGCCTGGAGAATGAATACAATGGCCTTAATCCCAAGTTAAACCGAATGCATGCATGAATGAATAGCTTGCTTTGGACTGCAATTAGAAACACCTAGTCTGCCATGCGCCTTCCAATCCTCATGCCTTCACCGGCCCTTGTCCTGGCCAGCTACCTGTGAGTCACATGTGTTTAAAAGGGGAAGAGGAGGTCTACAGAAAAAAAAAATAATAATAATAATAATTAAAAAGGGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCGGGCACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGCAAAACCCTGTCTTGACTAAAAATAAAAAAATGAGCCGGGCATGGTGGCATATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGTGAAATGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCACCCTGGGAGAGAGAGTGGGACTTGGTCTCAAATAAACAAACAAACAAACAAATAAATAAATAAGGGGTGGGGGGAGTGACCAAGGACAGTAACTGTCACACTTTTGACTTATTTGACAAAAATTTCCTGTGCATTTCACACATGCATGACCCCCTTAACAAAAAGGTAGAGAGGTTTGCCTCCATGTTTCTGTTTAGTTTGACAAGAGTGAAAGGGTGAAGGGACCCTCACCTCAGTAACCAGTCCCCGGGGTGTCTCAGAGAGATCGCTGCCGAGCAAAACCAGACAGCAGAGGGCGCCCTTCACACGTGCTCACCAAGTGCTCAATTTAATTTGCAATCACAGACTCT
AAAAGTGCCCACTGGCCAAACTGGACTAATTTGAGCATCAAAATAATGATTGTTAACAGAGTATTCATGGAATCAAGTAAATCCATGCCTATATACATTGAGAAATGAATAAACAAATGGGAGAGAAGAGAAAGCTCTTCCACACAGCTGACTGCCAGCTAATAATCAAGGAGGGAGTGGAGTTACAAAATTTCCATTTTACAACTATCATAGCAATCTCTTTGTAACTATCATAGGGAGGAACCATCAAAGGATGCTAAAAGCAGTGGGTAAAAGTTTGACAGGGAACAGGATATCCTCATAGTCTGAAGGTGACTACCCACTAATTACTTAGGAATTAGGTTTAAGGGAAAATAGGTTTACAATACAGAAACCTTAACCAAGTAATCAAAGTAAAAATCATCGATATTGGGAGTAAATGGCATCGTGCGCCTCTCGATACATTTGCTGCAGAAGCGACTCACTTCTGAGTTCTTCCTGCCAAAAATGCACACTCTAATGGTAATCACGAGAAAACATCAGACAAACCCCAACTGAGGGGCATTCTGTAAAATAACTGGCCTGTATGGGCTGGGTGCAATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGGGGGTGGATCACGATGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACGGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAATAACTGGCCTATATGCTTAAAAGAAGTCCAAGTCACTAAAGGTTGGAAAAGCCTGAGGAACTATCCCAGATCAAGGAAGACTAAGAATACTCTGCACCTTAATTACAATATGTGATCCTAGACCTGATTCAGGAATGGAAAAGAAGAAAAGGTACAAAGGATACTCTTAAAGAATTAGCAAAATCTGAAGATGGATTGTGAATGAGATAATAGTGTTGTTTCAATACGAAATTTCCTTATTTTAATGAAGGTACTAGGCCAGGCGCAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGTCAGAGCAGATCATGTGAGCCCAGGAGTTTGATACCAGCCTAGGCAACATAGTGAGACCCCAGCTCTAGAAAAAAATTTTAAAAATTAGCTGGGAATGGTGGTACGTGCCTATAGTCCCAGCTACATGGGAGGCTGAGGCAGGAGGATCACTTGAACCTAGGAGGTTGAGACTGTAGTGAGTCATGATCACTCCACTGCACTCCAGACTGGGTGACAGAGCAAGATGTCATCTCAAAAAAAAAAAAAAAAAGATAAAGGTACTGTGGTTATGTAAGAGAAATTCATTGTCCTTAGCAATTTTTTATTAAACGAAAGAAAAGTTACATACCTGGCTTTCTTCCGGAGTAACTTCTGAGACTCAGGATAATGCACCAAAATCTCATTCAGGTCCTTCTTATCCAGGATGAAGAGGTTGGTAAACCCGTGCGCCACCACGTTGGCCGTGCGCCGGTTCCCGCCCCCAACAGCCAGCAAGCTGGGGCAGAGAAGGGAGGAAGGAGGCCCTTCAGAGACTGCCGTTTCGGTCACATTCAGATCTTCATTTCCCATGTGTGGAGGACAGTGGTGGCCCCACACAGATGAGAACCTTCCCCCGCCCCCATCCCCGCATACATCAGCAGGTGCCAGTGCTGCATCTACCAAGCCGTAGACACTCGCACTGCCCGCTGGCCGCCTTCTTTCCCAGCCCTTGCCCCAGGCCCCTCACTTTACCCCAGCTGCGTCTGACCTTATTTCTCCAAACACAGATCCAGCTTTCAGCGTCACCAGCACAGATTTCCCATCAGGGCCGCCCAAGACCTGCACTTGCCCTGCCTGGATGATGTACATCTCACGGCCGATCTCCACCTGAAACAAAGAAGTGACAAGTCCCTCTGTTCATCCCCCAAAGTCACCAGAGAAGCAGCCAGGGCTGGATCCAGAGGCTGGAGGTCCGGCAAGGAGGAACCTAGGCACTGGGGTCCAGCCCTGCCACCACAACTTGGGGTGTCGTGTGGGGGCAGTCACTTCCCTCTCAGGCCTCAGTCACCCCATCTGTAGACTTGGAGGAGTGACTACCCCATGCCCTCCATAACTGACAGGGTTGCAGTGGGGGAGTTAGTGATGTCATGGAATGGGAAGTGCCAGCTAACCTGGGAGGTGCAGGTATAATGGAATTCTGCAAATTCCAGTTAGACTCACTGATGGAGGCAGGGCAAATCAGATAGCAGCTCCCACCATCAAATGATGTCTACACCTGGCACATCTCAGGGGCTCGGGAAGAATTTGCTAACTGCAACAGGAATGGGAACAACAATAACGATAATATTCAAATTGCCTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTTGTGCTTCAGCCTCCCAAACAGCTGCGATTACAGGCATCATGCTTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGTGCCACCATGCCCGGCAAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCCAAATTGCTTTATGCAGTGTACTACTTATCCTCAACAACCCTCAGAGTCGAGATCACTCTTTGCCCAAGAGCTGGGATCTGAACCCAGACAGTCTGGTTCCAGAGTTCATGGTTGTTATGGGTTGAATTATGTACTCCCTCCCAAATTCATATATTGAAATCCTCATCCCCAGCATCTCAGAATGTGACCTTATTTGGGAATAGGGTCATTGCAGATGTAATTCCTAAAGATGAGGTCCTTCTAGACCTAATCCAATATGACTGGTGTCCTAACAAAAGGGAAATGTGGACACAAAGACAGGCATAGAGACCAGAGGATGTGAGGAGACACAAAAAAAACTAGATGACCACCTACAAGCTGAGGAGAGAAGCCACCCAGCTTGTGGTGGAGTTGCACAGTGTCCCGCGGCAGCCTGGAGAATGAATACAATGGCCTTAATCCCAAGTTAAACCGAATGCATGCATGAATGAATAGCTTGCTTTGGACTGCAATTAGAAACACCTAGTCTGCCATGCGCCTTCCAATCCTCATGCCTTCACCGGCCCTTGTCCTGGCCAGCTACCTGTGAGTCACATGTGTTTAAAAGGGGAAGAGGAGGTCTACAGAAAAAAAAAATAATAATAATAATAATTAAAAAGGGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCGGGCACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGCAAAACCCTGTCTTGACTAAAAATAAAAAAATGAGCCGGGCATGGTGGCATATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGTGAAATGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCACCCTGGGAGAGAGAGTGGGACTTGGTCTCAAATAAACAAACAAACAAACAAATAAATAAATAAGGGGTGGGGGGAGTGACCAAGGACAGTAACTGTCACACTTTTGACTTATTTGACAAAAATTTCCTGTGCATTTCACACATGCATGACCCCCTTAACAAAAAGGTAGAGAGGTTTGCCTCCATGTTTCTGTTTAGTTTGACAAGAGTGAAAGGGTGAAGGGACCCTCACCTCAGTAACCAGTCCCCGGGGTGTCTCAGAGAGATCGCTGCCGAGCAAAACCAGACAGCAGAGGGCGCCCTTCACACGTGCTCACCAAGTGCTCAATTTAATTTGCAATCACAGACTCT
Task1_train_22759
This variant impacts the gene CNGB1 (cyclic nucleotide gated channel subunit beta 1) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
Pathogenic; Retinal dystrophy
ACATGCCCAGCTAAATTTTTTGACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATGGGGTGTGCAATGCCCTGAGAGAAAGCGAGGAGAGAGGAGAGAGAGAGGGAAGGAGGGAGAGAGAGGAAGGGAGGGAGGAAGGGACAGAAAGTCCTTCTTCCTTTTTTTTTTTTTTTTTTCAATTTAAACTGCACTTCGGCCTCACACCTGTAATCCCAGCACTTTGGGAGCCCGAGGCTGGCTAATCACCTGAGGTCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAATAATATAAAAATGAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCGGGAGATGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATGTCAAATAAATAAATAAATAAACAAACACACAAACAAACTACACTTCGCTCTTGGATGGGGATGCATTTCAAGGTGGGTAAAGTGAGGGGGGCAGGCACACAGAAGACAAGCCCCCCGTCTCCAGGGATCTCATGACAGCCCTGCTAGAGGCACTTCAGGGGCCCCACTGGGCACCTCTCACACCAATGTTGGGGACACAGCCAAGACAGGCCCCAGTACTCGGGACCTCAGAGACACAGAGGACGAGGGAGGCGCCCCGAAGGCATGGCACCGGGCACCAGGCGACAGGAGTTGACTGGGAGCTGGTGGCTGCCAGGGCGTGACCATCTTACCCAGCATGCCTTGCGAGTGCCAGGTGTACTCGTACCAGGTCTTGACGCGGTTCTGCACGGACTTGGGGATCTTGTAGAAATTCATGTACTTCACCGTGCTGTCCATGCAGCTGCGGTAGTAGGTCTGTCCGGCGGTGGCGGCCCCTACCACATCTCTCATCTGGGGGAAGGGTTATGGGAGGTCAAGGAAGCCACTGGGTCATTGGGGGTGGGCGCTATTCCATGGATTTGGGATGTGTCACTTCACACAGACCACGGGCATGTGCTCCTGGCAGGGCGTTGGGAGGGGGGTAGGCAGATGTCCTCACACAGAGAAAGTTTTACTGACGGGAAGTTCTGCCTCCAGCATGGATGTGGGGAAGAGGAAGGGAGGGAGACTGCCAGCCCCTTGGTGGCCTCAGGTCCCTGGGACCACACCATGGGGGAAAGCTCCTTGGGCTGGGCTGATTCTGGTACAATACAGTTCCTCGGTGACGGCGGCCATGTTGTCTGACTCCATGCTGGAGGAAATAGGAAGCCAGTGTGCTGTTCCTCGGGGCGGGGCCCTTCAAATATAAATTTGAGAACCTCTGACTGTCACCTCATGTCTCGACCAGAATGTAAGATGCTGCCCTGGCACACCAGAAACACCAGGGGCTTCTCCCTCGGTCTCTGCAGAAAACCATTCAGCCCAGTGCACCCGGAGGAACTGACATTTCAAATGATAATGACCTCAGAGAGGGAATAGGGCCGAGTTCACCACCACCCCCTTCACCGCGCAGGGACCAGTGCTCCAGGCTCCTGACTCTCAGTCTAGTGCCCTTTCCCAGGCTTAATCCAAAAGCAACGGGCACAGAGGGTGACATTTCTGGCAACAGTGGGAGGGGGCCCTGCAGTCAGGTGGGGTGGGAAGCTGGGCTGGTGCCCCGATACCTGTCCGATCATCACAGAGAAAGCAAAGACGCCCGTGAAATAATTCAGCAGCTGGAAGACAATTTCAAAGAGTGTCTTGGGGTCAGGCAGCCCCCCGATGGTGATGAGGGTCTTCACAGCAAAGTAGTAACAGCGAATATAACTGGAGAGAGAGGAGAAAGGGAACATGGGTCATCACAGGCCCCACTCTGCCGCCCCGAGCAGTCTGGCTCAGACGCCTCTGATAGATGCATGTTGTGCAAAAGACAGAAACCCTTTACAGCTCATCTATGCAAGGAAAACCACCTCCTGCACGTGTAGAGCACGTTGCCGTTTGCAGAGCAGGTTCACAAATGCTATCGGGTATGGTTGTGTCTCTAGGGACATGTTGCCATCCCCATTTACAGATATGGAAACTGAGGCTCCAGGGGATTTCCAGGAAGAGTTGGCAGGAGGCCAGACCAGGGTCTTCCAACTCCTAATGACCGCACTCCCTCAATTTCCTTCAGTGTTCCTTCAATTTTCAGTCTTTTCATTTGCTATCTCCTGCCATATTGGCTTATGAAAAGCAAAAGCAACATCAAGTTTGGACGATATCTTGAGGATGACTTTTTCTGACCCGCCCCTACCCGGCCCATCCATTTTCCAGAGAGTGAAACTGAGGCCCCCAAAGGGAAAGGGCACACCCGTGGTCACTAGTTGGTAAGTACAAGAGCTGGGCGCTGTCTGCTTCTCTAAGATGTCATCCACCAGCAGTAACCCTCTGACGTCGGCTTGTGAACCTTCTGGAAGGGAGGTATGGGGGAGGGTGTCCTACTGTGTGGTAAAAGGCATAGGAAATGCCCCAAGTGCTCCAGTCTGAATGTGTCCCCCGAAATTCAGGCATTGGAAACTTAATTCCCAGTGCAATGGTGTCAGGAGCTAGGGCCTTCGGGCGCCGTTTAGGCTGCGAGGGCTTTGCCCTCATGAATAGATTAAAGCTGTTACAAAAGGTTCTGGTGGAGGGTTTCCACTTCCTTTGGCCCTTCTGCCTTCTTCCATACGAGGACAGCATTCCTCTCCTCTAGTGGACACTGTGGCCTTCAAGACATTGTCTTGGAAGCAGAGAGCAGCCCTCACCAGATGCCAGCACCTTGATCTTGGACTTCCCAGCTTCCAGCACAGTGAAAAATAAGTTTCTGTTCTTTATAAGTTACCCAGTCTCATGTATTTTACTACAGCAGCTCAAAAGGCATGAAGACACCAAGCTTGTGTGTGATTATCACAGAGCAGCAAGGGTCCCTCTGACACCTGTCCACACCTCAGGCTGAGCCCTCCCCTGGGTCAGCAAAGGTGAGGTCAGAAGGGCCTAGACACTGGGCAGTCCCTGCCGGCTTTCCTGCAGCAGCTATTTATGCAGTGTCCTAGATAGAACATGGGCTCTGGACCAGGCTGGCTGGGCTCAGCCATTCGGCTCAGCCACCTTCTGGCTGCATAACTTGGACAAATCTCTCTCTCTCTCTCTCCAAGCCTCAGTTTCCTTCTCCATAAGATGGGGATGGCAATAGAATGTCCCTTACAGAAGACCATGAAGACAAAATGAGGTGCTAGAAGAAGCCTGGCACGTGGTGGACTCTCAGCAAGGGAGCTGTCAAAGCCTTCACAGCCACTGTTGCCTGCCCTGGGGAACTGAACAGATTCGCCCATATCCTCAAGAAGCTCGTGGTCCAGTGAGGGGACAGGCAGGTGACGTGCAATGCGTGCAGGAAGGAGGAAGCAGAGGTTGCTGGGGAGTGTGGTAGGGGCTCTGCCTCTGATAGCTGCGGGGCCTTGGGCAGGGCTGTGGGCCGCCCTGCACCTCCACATCACCTGTTGCCTGCAAGTTTCAGAACCCAAAACGGGCCTGTCAAGCCCCCGTCATACTGGTTCTGGCCATCAGAGGGCACGCGAAGCAGCGTTTAGCGGGACGGAGCAGCACCCCCAACTCTGCAGACCCCTCGGCTGTCCGGGAGCTGGGTGCTTATGCCGCTGGGCCACCAACAGAGAGAGGACATAGGCGCGATGTCCACAAAGCTCTGGCTTTACCCCAAACCCTTCCTAGCTGGAGGAATCTTCCAATGACATGCCACATCTTAGGGGCCTCCCTGAAGTCTCCTTGTCCTTGTCTGT
ACATGCCCAGCTAAATTTTTTGACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATGGGGTGTGCAATGCCCTGAGAGAAAGCGAGGAGAGAGGAGAGAGAGAGGGAAGGAGGGAGAGAGAGGAAGGGAGGGAGGAAGGGACAGAAAGTCCTTCTTCCTTTTTTTTTTTTTTTTTTCAATTTAAACTGCACTTCGGCCTCACACCTGTAATCCCAGCACTTTGGGAGCCCGAGGCTGGCTAATCACCTGAGGTCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAATAATATAAAAATGAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCGGGAGATGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATGTCAAATAAATAAATAAATAAACAAACACACAAACAAACTACACTTCGCTCTTGGATGGGGATGCATTTCAAGGTGGGTAAAGTGAGGGGGGCAGGCACACAGAAGACAAGCCCCCCGTCTCCAGGGATCTCATGACAGCCCTGCTAGAGGCACTTCAGGGGCCCCACTGGGCACCTCTCACACCAATGTTGGGGACACAGCCAAGACAGGCCCCAGTACTCGGGACCTCAGAGACACAGAGGACGAGGGAGGCGCCCCGAAGGCATGGCACCGGGCACCAGGCGACAGGAGTTGACTGGGAGCTGGTGGCTGCCAGGGCGTGACCATCTTACCCAGCATGCCTTGCGAGTGCCAGGTGTACTCGTACCAGGTCTTGACGCGGTTCTGCACGGACTTGGGGATCTTGTAGAAATTCATGTACTTCACCGTGCTGTCCATGCAGCTGCGGTAGTAGGTCTGTCCGGCGGTGGCGGCCCCTACCACATCTCTCATCTGGGGGAAGGGTTATGGGAGGTCAAGGAAGCCACTGGGTCATTGGGGGTGGGCGCTATTCCATGGATTTGGGATGTGTCACTTCACACAGACCACGGGCATGTGCTCCTGGCAGGGCGTTGGGAGGGGGGTAGGCAGATGTCCTCACACAGAGAAAGTTTTACTGACGGGAAGTTCTGCCTCCAGCATGGATGTGGGGAAGAGGAAGGGAGGGAGACTGCCAGCCCCTTGGTGGCCTCAGGTCCCTGGGACCACACCATGGGGGAAAGCTCCTTGGGCTGGGCTGATTCTGGTACAATACAGTTCCTCGGTGACGGCGGCCATGTTGTCTGACTCCATGCTGGAGGAAATAGGAAGCCAGTGTGCTGTTCCTCGGGGCGGGGCCCTTCAAATATAAATTTGAGAACCTCTGACTGTCACCTCATGTCTCGACCAGAATGTAAGATGCTGCCCTGGCACACCAGAAACACCAGGGGCTTCTCCCTCGGTCTCTGCAGAAAACCATTCAGCCCAGTGCACCCGGAGGAACTGACATTTCAAATGATAATGACCTCAGAGAGGGAATAGGGCCGAGTTCACCACCACCCCCTTCACCGCGCAGGGACCAGTGCTCCAGGCTCCTGACTCTCAGTCTAGTGCCCTTTCCCAGGCTTAATCCAAAAGCAACGGGCACAGAGGGTGACATTTCTGGCAACAGTGGGAGGGGGCCCTGCAGTCAGGTGGGGTGGGAAGCTGGGCTGGTGCCCCGATACCTGTCCGATCATCACAGAGAAAGCAAAGACGCCCGTGAAATAATTCAGCAGCTGGAAGACAATTTCAAAGAGTGTCTTGAGGTCAGGCAGCCCCCCGATGGTGATGAGGGTCTTCACAGCAAAGTAGTAACAGCGAATATAACTGGAGAGAGAGGAGAAAGGGAACATGGGTCATCACAGGCCCCACTCTGCCGCCCCGAGCAGTCTGGCTCAGACGCCTCTGATAGATGCATGTTGTGCAAAAGACAGAAACCCTTTACAGCTCATCTATGCAAGGAAAACCACCTCCTGCACGTGTAGAGCACGTTGCCGTTTGCAGAGCAGGTTCACAAATGCTATCGGGTATGGTTGTGTCTCTAGGGACATGTTGCCATCCCCATTTACAGATATGGAAACTGAGGCTCCAGGGGATTTCCAGGAAGAGTTGGCAGGAGGCCAGACCAGGGTCTTCCAACTCCTAATGACCGCACTCCCTCAATTTCCTTCAGTGTTCCTTCAATTTTCAGTCTTTTCATTTGCTATCTCCTGCCATATTGGCTTATGAAAAGCAAAAGCAACATCAAGTTTGGACGATATCTTGAGGATGACTTTTTCTGACCCGCCCCTACCCGGCCCATCCATTTTCCAGAGAGTGAAACTGAGGCCCCCAAAGGGAAAGGGCACACCCGTGGTCACTAGTTGGTAAGTACAAGAGCTGGGCGCTGTCTGCTTCTCTAAGATGTCATCCACCAGCAGTAACCCTCTGACGTCGGCTTGTGAACCTTCTGGAAGGGAGGTATGGGGGAGGGTGTCCTACTGTGTGGTAAAAGGCATAGGAAATGCCCCAAGTGCTCCAGTCTGAATGTGTCCCCCGAAATTCAGGCATTGGAAACTTAATTCCCAGTGCAATGGTGTCAGGAGCTAGGGCCTTCGGGCGCCGTTTAGGCTGCGAGGGCTTTGCCCTCATGAATAGATTAAAGCTGTTACAAAAGGTTCTGGTGGAGGGTTTCCACTTCCTTTGGCCCTTCTGCCTTCTTCCATACGAGGACAGCATTCCTCTCCTCTAGTGGACACTGTGGCCTTCAAGACATTGTCTTGGAAGCAGAGAGCAGCCCTCACCAGATGCCAGCACCTTGATCTTGGACTTCCCAGCTTCCAGCACAGTGAAAAATAAGTTTCTGTTCTTTATAAGTTACCCAGTCTCATGTATTTTACTACAGCAGCTCAAAAGGCATGAAGACACCAAGCTTGTGTGTGATTATCACAGAGCAGCAAGGGTCCCTCTGACACCTGTCCACACCTCAGGCTGAGCCCTCCCCTGGGTCAGCAAAGGTGAGGTCAGAAGGGCCTAGACACTGGGCAGTCCCTGCCGGCTTTCCTGCAGCAGCTATTTATGCAGTGTCCTAGATAGAACATGGGCTCTGGACCAGGCTGGCTGGGCTCAGCCATTCGGCTCAGCCACCTTCTGGCTGCATAACTTGGACAAATCTCTCTCTCTCTCTCTCCAAGCCTCAGTTTCCTTCTCCATAAGATGGGGATGGCAATAGAATGTCCCTTACAGAAGACCATGAAGACAAAATGAGGTGCTAGAAGAAGCCTGGCACGTGGTGGACTCTCAGCAAGGGAGCTGTCAAAGCCTTCACAGCCACTGTTGCCTGCCCTGGGGAACTGAACAGATTCGCCCATATCCTCAAGAAGCTCGTGGTCCAGTGAGGGGACAGGCAGGTGACGTGCAATGCGTGCAGGAAGGAGGAAGCAGAGGTTGCTGGGGAGTGTGGTAGGGGCTCTGCCTCTGATAGCTGCGGGGCCTTGGGCAGGGCTGTGGGCCGCCCTGCACCTCCACATCACCTGTTGCCTGCAAGTTTCAGAACCCAAAACGGGCCTGTCAAGCCCCCGTCATACTGGTTCTGGCCATCAGAGGGCACGCGAAGCAGCGTTTAGCGGGACGGAGCAGCACCCCCAACTCTGCAGACCCCTCGGCTGTCCGGGAGCTGGGTGCTTATGCCGCTGGGCCACCAACAGAGAGAGGACATAGGCGCGATGTCCACAAAGCTCTGGCTTTACCCCAAACCCTTCCTAGCTGGAGGAATCTTCCAATGACATGCCACATCTTAGGGGCCTCCCTGAAGTCTCCTTGTCCTTGTCTGT
Task1_train_22760
This alteration occurs within gene CNGB1 (cyclic nucleotide gated channel subunit beta 1) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
Pathogenic; Retinal dystrophy
CTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATGGGGTGTGCAATGCCCTGAGAGAAAGCGAGGAGAGAGGAGAGAGAGAGGGAAGGAGGGAGAGAGAGGAAGGGAGGGAGGAAGGGACAGAAAGTCCTTCTTCCTTTTTTTTTTTTTTTTTTCAATTTAAACTGCACTTCGGCCTCACACCTGTAATCCCAGCACTTTGGGAGCCCGAGGCTGGCTAATCACCTGAGGTCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAATAATATAAAAATGAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCGGGAGATGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATGTCAAATAAATAAATAAATAAACAAACACACAAACAAACTACACTTCGCTCTTGGATGGGGATGCATTTCAAGGTGGGTAAAGTGAGGGGGGCAGGCACACAGAAGACAAGCCCCCCGTCTCCAGGGATCTCATGACAGCCCTGCTAGAGGCACTTCAGGGGCCCCACTGGGCACCTCTCACACCAATGTTGGGGACACAGCCAAGACAGGCCCCAGTACTCGGGACCTCAGAGACACAGAGGACGAGGGAGGCGCCCCGAAGGCATGGCACCGGGCACCAGGCGACAGGAGTTGACTGGGAGCTGGTGGCTGCCAGGGCGTGACCATCTTACCCAGCATGCCTTGCGAGTGCCAGGTGTACTCGTACCAGGTCTTGACGCGGTTCTGCACGGACTTGGGGATCTTGTAGAAATTCATGTACTTCACCGTGCTGTCCATGCAGCTGCGGTAGTAGGTCTGTCCGGCGGTGGCGGCCCCTACCACATCTCTCATCTGGGGGAAGGGTTATGGGAGGTCAAGGAAGCCACTGGGTCATTGGGGGTGGGCGCTATTCCATGGATTTGGGATGTGTCACTTCACACAGACCACGGGCATGTGCTCCTGGCAGGGCGTTGGGAGGGGGGTAGGCAGATGTCCTCACACAGAGAAAGTTTTACTGACGGGAAGTTCTGCCTCCAGCATGGATGTGGGGAAGAGGAAGGGAGGGAGACTGCCAGCCCCTTGGTGGCCTCAGGTCCCTGGGACCACACCATGGGGGAAAGCTCCTTGGGCTGGGCTGATTCTGGTACAATACAGTTCCTCGGTGACGGCGGCCATGTTGTCTGACTCCATGCTGGAGGAAATAGGAAGCCAGTGTGCTGTTCCTCGGGGCGGGGCCCTTCAAATATAAATTTGAGAACCTCTGACTGTCACCTCATGTCTCGACCAGAATGTAAGATGCTGCCCTGGCACACCAGAAACACCAGGGGCTTCTCCCTCGGTCTCTGCAGAAAACCATTCAGCCCAGTGCACCCGGAGGAACTGACATTTCAAATGATAATGACCTCAGAGAGGGAATAGGGCCGAGTTCACCACCACCCCCTTCACCGCGCAGGGACCAGTGCTCCAGGCTCCTGACTCTCAGTCTAGTGCCCTTTCCCAGGCTTAATCCAAAAGCAACGGGCACAGAGGGTGACATTTCTGGCAACAGTGGGAGGGGGCCCTGCAGTCAGGTGGGGTGGGAAGCTGGGCTGGTGCCCCGATACCTGTCCGATCATCACAGAGAAAGCAAAGACGCCCGTGAAATAATTCAGCAGCTGGAAGACAATTTCAAAGAGTGTCTTGGGGTCAGGCAGCCCCCCGATGGTGATGAGGGTCTTCACAGCAAAGTAGTAACAGCGAATATAACTGGAGAGAGAGGAGAAAGGGAACATGGGTCATCACAGGCCCCACTCTGCCGCCCCGAGCAGTCTGGCTCAGACGCCTCTGATAGATGCATGTTGTGCAAAAGACAGAAACCCTTTACAGCTCATCTATGCAAGGAAAACCACCTCCTGCACGTGTAGAGCACGTTGCCGTTTGCAGAGCAGGTTCACAAATGCTATCGGGTATGGTTGTGTCTCTAGGGACATGTTGCCATCCCCATTTACAGATATGGAAACTGAGGCTCCAGGGGATTTCCAGGAAGAGTTGGCAGGAGGCCAGACCAGGGTCTTCCAACTCCTAATGACCGCACTCCCTCAATTTCCTTCAGTGTTCCTTCAATTTTCAGTCTTTTCATTTGCTATCTCCTGCCATATTGGCTTATGAAAAGCAAAAGCAACATCAAGTTTGGACGATATCTTGAGGATGACTTTTTCTGACCCGCCCCTACCCGGCCCATCCATTTTCCAGAGAGTGAAACTGAGGCCCCCAAAGGGAAAGGGCACACCCGTGGTCACTAGTTGGTAAGTACAAGAGCTGGGCGCTGTCTGCTTCTCTAAGATGTCATCCACCAGCAGTAACCCTCTGACGTCGGCTTGTGAACCTTCTGGAAGGGAGGTATGGGGGAGGGTGTCCTACTGTGTGGTAAAAGGCATAGGAAATGCCCCAAGTGCTCCAGTCTGAATGTGTCCCCCGAAATTCAGGCATTGGAAACTTAATTCCCAGTGCAATGGTGTCAGGAGCTAGGGCCTTCGGGCGCCGTTTAGGCTGCGAGGGCTTTGCCCTCATGAATAGATTAAAGCTGTTACAAAAGGTTCTGGTGGAGGGTTTCCACTTCCTTTGGCCCTTCTGCCTTCTTCCATACGAGGACAGCATTCCTCTCCTCTAGTGGACACTGTGGCCTTCAAGACATTGTCTTGGAAGCAGAGAGCAGCCCTCACCAGATGCCAGCACCTTGATCTTGGACTTCCCAGCTTCCAGCACAGTGAAAAATAAGTTTCTGTTCTTTATAAGTTACCCAGTCTCATGTATTTTACTACAGCAGCTCAAAAGGCATGAAGACACCAAGCTTGTGTGTGATTATCACAGAGCAGCAAGGGTCCCTCTGACACCTGTCCACACCTCAGGCTGAGCCCTCCCCTGGGTCAGCAAAGGTGAGGTCAGAAGGGCCTAGACACTGGGCAGTCCCTGCCGGCTTTCCTGCAGCAGCTATTTATGCAGTGTCCTAGATAGAACATGGGCTCTGGACCAGGCTGGCTGGGCTCAGCCATTCGGCTCAGCCACCTTCTGGCTGCATAACTTGGACAAATCTCTCTCTCTCTCTCTCCAAGCCTCAGTTTCCTTCTCCATAAGATGGGGATGGCAATAGAATGTCCCTTACAGAAGACCATGAAGACAAAATGAGGTGCTAGAAGAAGCCTGGCACGTGGTGGACTCTCAGCAAGGGAGCTGTCAAAGCCTTCACAGCCACTGTTGCCTGCCCTGGGGAACTGAACAGATTCGCCCATATCCTCAAGAAGCTCGTGGTCCAGTGAGGGGACAGGCAGGTGACGTGCAATGCGTGCAGGAAGGAGGAAGCAGAGGTTGCTGGGGAGTGTGGTAGGGGCTCTGCCTCTGATAGCTGCGGGGCCTTGGGCAGGGCTGTGGGCCGCCCTGCACCTCCACATCACCTGTTGCCTGCAAGTTTCAGAACCCAAAACGGGCCTGTCAAGCCCCCGTCATACTGGTTCTGGCCATCAGAGGGCACGCGAAGCAGCGTTTAGCGGGACGGAGCAGCACCCCCAACTCTGCAGACCCCTCGGCTGTCCGGGAGCTGGGTGCTTATGCCGCTGGGCCACCAACAGAGAGAGGACATAGGCGCGATGTCCACAAAGCTCTGGCTTTACCCCAAACCCTTCCTAGCTGGAGGAATCTTCCAATGACATGCCACATCTTAGGGGCCTCCCTGAAGTCTCCTTGTCCTTGTCTGTGGGGACCATCTGTGCTTCAGGATGGGCAGAACTGGGGCAGGAGAGCACTGGGGCGGGATG
CTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATGGGGTGTGCAATGCCCTGAGAGAAAGCGAGGAGAGAGGAGAGAGAGAGGGAAGGAGGGAGAGAGAGGAAGGGAGGGAGGAAGGGACAGAAAGTCCTTCTTCCTTTTTTTTTTTTTTTTTTCAATTTAAACTGCACTTCGGCCTCACACCTGTAATCCCAGCACTTTGGGAGCCCGAGGCTGGCTAATCACCTGAGGTCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAATAATATAAAAATGAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCGGGAGATGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATGTCAAATAAATAAATAAATAAACAAACACACAAACAAACTACACTTCGCTCTTGGATGGGGATGCATTTCAAGGTGGGTAAAGTGAGGGGGGCAGGCACACAGAAGACAAGCCCCCCGTCTCCAGGGATCTCATGACAGCCCTGCTAGAGGCACTTCAGGGGCCCCACTGGGCACCTCTCACACCAATGTTGGGGACACAGCCAAGACAGGCCCCAGTACTCGGGACCTCAGAGACACAGAGGACGAGGGAGGCGCCCCGAAGGCATGGCACCGGGCACCAGGCGACAGGAGTTGACTGGGAGCTGGTGGCTGCCAGGGCGTGACCATCTTACCCAGCATGCCTTGCGAGTGCCAGGTGTACTCGTACCAGGTCTTGACGCGGTTCTGCACGGACTTGGGGATCTTGTAGAAATTCATGTACTTCACCGTGCTGTCCATGCAGCTGCGGTAGTAGGTCTGTCCGGCGGTGGCGGCCCCTACCACATCTCTCATCTGGGGGAAGGGTTATGGGAGGTCAAGGAAGCCACTGGGTCATTGGGGGTGGGCGCTATTCCATGGATTTGGGATGTGTCACTTCACACAGACCACGGGCATGTGCTCCTGGCAGGGCGTTGGGAGGGGGGTAGGCAGATGTCCTCACACAGAGAAAGTTTTACTGACGGGAAGTTCTGCCTCCAGCATGGATGTGGGGAAGAGGAAGGGAGGGAGACTGCCAGCCCCTTGGTGGCCTCAGGTCCCTGGGACCACACCATGGGGGAAAGCTCCTTGGGCTGGGCTGATTCTGGTACAATACAGTTCCTCGGTGACGGCGGCCATGTTGTCTGACTCCATGCTGGAGGAAATAGGAAGCCAGTGTGCTGTTCCTCGGGGCGGGGCCCTTCAAATATAAATTTGAGAACCTCTGACTGTCACCTCATGTCTCGACCAGAATGTAAGATGCTGCCCTGGCACACCAGAAACACCAGGGGCTTCTCCCTCGGTCTCTGCAGAAAACCATTCAGCCCAGTGCACCCGGAGGAACTGACATTTCAAATGATAATGACCTCAGAGAGGGAATAGGGCCGAGTTCACCACCACCCCCTTCACCGCGCAGGGACCAGTGCTCCAGGCTCCTGACTCTCAGTCTAGTGCCCTTTCCCAGGCTTAATCCAAAAGCAACGGGCACAGAGGGTGACATTTCTGGCAACAGTGGGAGGGGGCCCTGCAGTCAGGTGGGGTGGGAAGCTGGGCTGGTGCCCCGATACCTGTCCGATCATCACAGAGAAAGCAAAGACGCCCGTGAAATAATTCAGCAGCTGGAAGACAATTTCAAAGAGTGTCTTGGGGTCAGGCAGCCCCCCGATGGTGATGAGGGTCTTCACAGCAAAGTAGTAACAGCGAATACAACTGGAGAGAGAGGAGAAAGGGAACATGGGTCATCACAGGCCCCACTCTGCCGCCCCGAGCAGTCTGGCTCAGACGCCTCTGATAGATGCATGTTGTGCAAAAGACAGAAACCCTTTACAGCTCATCTATGCAAGGAAAACCACCTCCTGCACGTGTAGAGCACGTTGCCGTTTGCAGAGCAGGTTCACAAATGCTATCGGGTATGGTTGTGTCTCTAGGGACATGTTGCCATCCCCATTTACAGATATGGAAACTGAGGCTCCAGGGGATTTCCAGGAAGAGTTGGCAGGAGGCCAGACCAGGGTCTTCCAACTCCTAATGACCGCACTCCCTCAATTTCCTTCAGTGTTCCTTCAATTTTCAGTCTTTTCATTTGCTATCTCCTGCCATATTGGCTTATGAAAAGCAAAAGCAACATCAAGTTTGGACGATATCTTGAGGATGACTTTTTCTGACCCGCCCCTACCCGGCCCATCCATTTTCCAGAGAGTGAAACTGAGGCCCCCAAAGGGAAAGGGCACACCCGTGGTCACTAGTTGGTAAGTACAAGAGCTGGGCGCTGTCTGCTTCTCTAAGATGTCATCCACCAGCAGTAACCCTCTGACGTCGGCTTGTGAACCTTCTGGAAGGGAGGTATGGGGGAGGGTGTCCTACTGTGTGGTAAAAGGCATAGGAAATGCCCCAAGTGCTCCAGTCTGAATGTGTCCCCCGAAATTCAGGCATTGGAAACTTAATTCCCAGTGCAATGGTGTCAGGAGCTAGGGCCTTCGGGCGCCGTTTAGGCTGCGAGGGCTTTGCCCTCATGAATAGATTAAAGCTGTTACAAAAGGTTCTGGTGGAGGGTTTCCACTTCCTTTGGCCCTTCTGCCTTCTTCCATACGAGGACAGCATTCCTCTCCTCTAGTGGACACTGTGGCCTTCAAGACATTGTCTTGGAAGCAGAGAGCAGCCCTCACCAGATGCCAGCACCTTGATCTTGGACTTCCCAGCTTCCAGCACAGTGAAAAATAAGTTTCTGTTCTTTATAAGTTACCCAGTCTCATGTATTTTACTACAGCAGCTCAAAAGGCATGAAGACACCAAGCTTGTGTGTGATTATCACAGAGCAGCAAGGGTCCCTCTGACACCTGTCCACACCTCAGGCTGAGCCCTCCCCTGGGTCAGCAAAGGTGAGGTCAGAAGGGCCTAGACACTGGGCAGTCCCTGCCGGCTTTCCTGCAGCAGCTATTTATGCAGTGTCCTAGATAGAACATGGGCTCTGGACCAGGCTGGCTGGGCTCAGCCATTCGGCTCAGCCACCTTCTGGCTGCATAACTTGGACAAATCTCTCTCTCTCTCTCTCCAAGCCTCAGTTTCCTTCTCCATAAGATGGGGATGGCAATAGAATGTCCCTTACAGAAGACCATGAAGACAAAATGAGGTGCTAGAAGAAGCCTGGCACGTGGTGGACTCTCAGCAAGGGAGCTGTCAAAGCCTTCACAGCCACTGTTGCCTGCCCTGGGGAACTGAACAGATTCGCCCATATCCTCAAGAAGCTCGTGGTCCAGTGAGGGGACAGGCAGGTGACGTGCAATGCGTGCAGGAAGGAGGAAGCAGAGGTTGCTGGGGAGTGTGGTAGGGGCTCTGCCTCTGATAGCTGCGGGGCCTTGGGCAGGGCTGTGGGCCGCCCTGCACCTCCACATCACCTGTTGCCTGCAAGTTTCAGAACCCAAAACGGGCCTGTCAAGCCCCCGTCATACTGGTTCTGGCCATCAGAGGGCACGCGAAGCAGCGTTTAGCGGGACGGAGCAGCACCCCCAACTCTGCAGACCCCTCGGCTGTCCGGGAGCTGGGTGCTTATGCCGCTGGGCCACCAACAGAGAGAGGACATAGGCGCGATGTCCACAAAGCTCTGGCTTTACCCCAAACCCTTCCTAGCTGGAGGAATCTTCCAATGACATGCCACATCTTAGGGGCCTCCCTGAAGTCTCCTTGTCCTTGTCTGTGGGGACCATCTGTGCTTCAGGATGGGCAGAACTGGGGCAGGAGAGCACTGGGGCGGGATG
Task1_train_22761
This alteration occurs within gene CNGB1 (cyclic nucleotide gated channel subunit beta 1) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
Pathogenic; Autosomal recessive retinitis pigmentosa
AATGACATGTAATCTTGTTCTCACAATTTGCATATAATTTCAGGGGACTCCTGGACCCTCTGAATTCTATCATGAGACTTTTAGGGGTACATGCATCCAGGTTAAAGCTGCTGTTTTTAATGTTTCTTATAAAGAAAACAATTTAATAAAGAGACAGCATCCCTAACACCCCACTCTTATATCCTTCAAAGGTTTATTTATAAGAATAAAAGTATATTAATAACTACTTTTCTTTATTGAGCACCTATTATATGACTGGCATATGCCTTTTTTTGTTTTGTTTTTTCAGAGACAGAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTACAGTCATAGATAACCACAGCCTCGAACTTCTGGGCTCAAGCGATTTTTCAGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCACACATCAACACTCATGGGTAATTTTTAAATTTTTTGTAGAGACAGAGTCTCACTGTGTTACCCAGGTTGGTCTCACATTTCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCTTAAAGTGCTGGTATTACAAGCATGAGCCGCCACACCCAGCCAGCACATACATTTATATACATTACCTTATTCCTTATTTACATATGAAGTATGTATTATCATTCTCCTTTGACAGAAATTGGTGCTCAGGGAAGTCCAGTAACTTGTCCAAAGCACACAGCTGGTATGTGAGAGAGTCAGCATTCCAACCCAGGCCAGACTCAGAGCTGCAAGCTCTCTCCTTATGCTATACCACCTCTAGATCTTTGGATTTATTTTTTGATATTTGAAAATAGTATTTATGAAGATTCTCTAAGGGATATTCCAGTTATCATCCATGTGTTCATTCTAGTTCCAGCCACAGTTTAAACTGGAGGCAGAAAGAACAGGGGCTTGGATGGCTCACTTAAAGAGTTTTGTCCACTGAATGGTGTTCAATGTTAGGCCTGTGAGTTTTGCCCCCTCACTGGGGCCACCATGTGACCCAAGGTATGGATCTCACCTCTGCGTCTGGGGTGAAACTTGGCCTGTGGACCCAACCTTCCTCACTCTGATGTTTGGCTCTAAAGCAACCTCTGCAGCCCCTGGGAGGCTGGTATGTGTCAAATAAGAATGGTGCCAATTCCACTTTCCCCCTTCCTCTTGGCAGCCAGGAAGCTCAGAGGCAGCTTCCATGCTCGATTCCACATAGGTGTGCTTTCTTCTCATCAGGGCACTTGCACGCCCCCTAGTTTTCTCTGCCCTGTTTCTCTGGGTTGTTCATGTTATTGCATTTGCATTTTTTGTAAATTCCCTCAGTACTGTTTTCAGAAAAAGGCACCAGTCTTCATTTCAGGAGACAGATGAATGTGATTGGTTGGCCATCAAAATCCATTTGGGGGATCCTGAATGCTCTGAGTGGCTATCCACCCTGATCACGTGACAGGACCATGGCCAGCTGTGGCAGCCAGACCATCCTGGAGACTTTCGCTCTGCCCAGTGAGTGCCAGAAGGAATGGCTGGAATGACACTGAGGCCTGGCCAGTGATGAAACGGGTGTCTGGCTGTGCATTCAAATCCATCCCTGGCACTTCCTTGCTCCTGCGACCTAGGGCAAGTCCCCCAGCCTCTCCAAGCACCAATGTCCCCATCTTTTAGACAGAGACCATCATAAAGCAGAAGATCCCCTCTTGAGAGTCTCTATAATCACTGAGAGCGTAAACAGTGGAGACAGATGACCTGCATTCATATCTGGGCTCCACTCCCTCCTGGCTGTGTGACTTTGGGCAAATTAATTAACCTCTCTGTGCCCCAGTCCTTCATTTGTAAAATGCTGGCAATAATACTACCTAACATGCAGCACCACAGAAGCACTAGCAAATTGTAATGAACTTTCCACTAAGACACACGTGGAATAAATGCATCTCCCCTCGGGCCATCCCTTGAGGAACTCCCCTCCCCAGTGCTGCTGGGGGCAGACACGAAGATGCCAGTGTCGGTGCAGAGCAGGGATGAGCTGAAGGCCTGGGGTGGTGGGCCCAGCAGTCCTACCTTTAAACAGCGGGGCAGGCGGAGGAGGGGGTTCACACCGACTTTCAAATAGAGAAAATCCAAGGGCAGGAGGCTGAGCAGGTCCATCTGAAATCCCAGTGGGACACCATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGATGTCAGGAGTTCGAGACCAGACTGCCCAACATGGTGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGTGTGGTGACGCACACTTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGGAGTGCTTGAACGAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGAACTCCAGCCTGGGAGACAGAGTTAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAGAAAGATAACTTCTGGGGGCTACCCAGCCTGTGCTGGTCTCCTGGGGCTTGTGGTTTGGAGGACACTCCCACAGGGACCAGCATCCCTCCGTGTGGCAGAAACCACATCTCATGAACGCCCCAGGCACCCAGGGCCCTCTGAGGCACCCCCTTCTGAAACCCCGCAGACGCTAAACCTTGCATGCCCGGCACACACCTTGAAGCGGCGAGACTTCAGGTAGTTATTTCGCATGTCCTTTTTGTCCGTCTGAAAGAAAGGGAATGATGATGGTGAAATGACCTTACAGCTTAATCTCTGACCCTGTGGAGCAATTGTGAAACTTCCCCAAGAACCCCACCCTGAAACGAGCATAACAGCCCAAGGACCATCTGAGCCTTGGTGAAAGCCTTGAGTTTTATGGGTGGAGAGGCCCAGCCCCCAGGGAGGAGGGATCTGTTCTGGTCACCCAGCTAGATCCTGATTTCTTGGGTGGAAAGCAAGGACATTAAGCTTATTCCCTCTGCCCATTGGTCTTACCTGGACCATTTGCACATCTGTTTACTAAGGAATTGGTAGTCACTCTGATCAGGCCAGAAAAGAGGTTCTCCAAGGAAATCTCTTTACTTTTTACTTTACTCTCTTTAAATCTCTCCAAGGAAAATCGTTTACAGGCAAAACCTGAGCTTGTCTGCACACAGCAAAACAGGCACTGCCGGGGTGGAATTTTGGAAAGTGACCCACACTGGGAGACAGGGACTGTGTCTCCTGTTCCTGAGAAGTCACAGTCAGGGCCTCAGTTTCCTCCCTGGTAAGGCAGGGGTGGTGCACGGGGCTGGACCAGAGGCCAGGGTCTCAAATTGGCCCAAGTAGGAGAGCATCAGTGTGTTTTTGCAGGACCCCTGGGAGAAGTCAATTGCCAGTGGATACCTGTGCTGAGCGCCCCGCATGCATCGTTTCAACCAATCCTCATGGCAACACTGGGAGGTGGAAGCTATTACTAGCCCCATTCTACAGATGAGGAAACAGAGGCGATTCAGCTAGTTGTGGTGGAGGTGGGATTCAAACCAGGTACATCCTCACTAAAGACCATTCCCTGGACCACTTCTCTATCTTTGATTCTGTCAAGTGGTCCAGGAACTATTTCACCTATGAGCAATATCTGATGTGCGTAATTTGAACGTATCAAAGGCATGCAAAATAAACAACCATGCTATTGAACAAGCACAGCAGCCGTTCTTGAGATTTCCTTATTCACTTATTTTGTCATCTATGACAGCATCAGGGGTCAGTGCCCTGGAGGCTCTGGCTGAGCGGTCTGCCCCCGGTCACCCCAACACCACCTGCCTGTGACTCACAATGATGTCCCCGCCTCTGACAAACTGCAGGCGTGTCTG
AATGACATGTAATCTTGTTCTCACAATTTGCATATAATTTCAGGGGACTCCTGGACCCTCTGAATTCTATCATGAGACTTTTAGGGGTACATGCATCCAGGTTAAAGCTGCTGTTTTTAATGTTTCTTATAAAGAAAACAATTTAATAAAGAGACAGCATCCCTAACACCCCACTCTTATATCCTTCAAAGGTTTATTTATAAGAATAAAAGTATATTAATAACTACTTTTCTTTATTGAGCACCTATTATATGACTGGCATATGCCTTTTTTTGTTTTGTTTTTTCAGAGACAGAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTACAGTCATAGATAACCACAGCCTCGAACTTCTGGGCTCAAGCGATTTTTCAGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCACACATCAACACTCATGGGTAATTTTTAAATTTTTTGTAGAGACAGAGTCTCACTGTGTTACCCAGGTTGGTCTCACATTTCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCTTAAAGTGCTGGTATTACAAGCATGAGCCGCCACACCCAGCCAGCACATACATTTATATACATTACCTTATTCCTTATTTACATATGAAGTATGTATTATCATTCTCCTTTGACAGAAATTGGTGCTCAGGGAAGTCCAGTAACTTGTCCAAAGCACACAGCTGGTATGTGAGAGAGTCAGCATTCCAACCCAGGCCAGACTCAGAGCTGCAAGCTCTCTCCTTATGCTATACCACCTCTAGATCTTTGGATTTATTTTTTGATATTTGAAAATAGTATTTATGAAGATTCTCTAAGGGATATTCCAGTTATCATCCATGTGTTCATTCTAGTTCCAGCCACAGTTTAAACTGGAGGCAGAAAGAACAGGGGCTTGGATGGCTCACTTAAAGAGTTTTGTCCACTGAATGGTGTTCAATGTTAGGCCTGTGAGTTTTGCCCCCTCACTGGGGCCACCATGTGACCCAAGGTATGGATCTCACCTCTGCGTCTGGGGTGAAACTTGGCCTGTGGACCCAACCTTCCTCACTCTGATGTTTGGCTCTAAAGCAACCTCTGCAGCCCCTGGGAGGCTGGTATGTGTCAAATAAGAATGGTGCCAATTCCACTTTCCCCCTTCCTCTTGGCAGCCAGGAAGCTCAGAGGCAGCTTCCATGCTCGATTCCACATAGGTGTGCTTTCTTCTCATCAGGGCACTTGCACGCCCCCTAGTTTTCTCTGCCCTGTTTCTCTGGGTTGTTCATGTTATTGCATTTGCATTTTTTGTAAATTCCCTCAGTACTGTTTTCAGAAAAAGGCACCAGTCTTCATTTCAGGAGACAGATGAATGTGATTGGTTGGCCATCAAAATCCATTTGGGGGATCCTGAATGCTCTGAGTGGCTATCCACCCTGATCACGTGACAGGACCATGGCCAGCTGTGGCAGCCAGACCATCCTGGAGACTTTCGCTCTGCCCAGTGAGTGCCAGAAGGAATGGCTGGAATGACACTGAGGCCTGGCCAGTGATGAAACGGGTGTCTGGCTGTGCATTCAAATCCATCCCTGGCACTTCCTTGCTCCTGCGACCTAGGGCAAGTCCCCCAGCCTCTCCAAGCACCAATGTCCCCATCTTTTAGACAGAGACCATCATAAAGCAGAAGATCCCCTCTTGAGAGTCTCTATAATCACTGAGAGCGTAAACAGTGGAGACAGATGACCTGCATTCATATCTGGGCTCCACTCCCTCCTGGCTGTGTGACTTTGGGCAAATTAATTAACCTCTCTGTGCCCCAGTCCTTCATTTGTAAAATGCTGGCAATAATACTACCTAACATGCAGCACCACAGAAGCACTAGCAAATTGTAATGAACTTTCCACTAAGACACACGTGGAATAAATGCATCTCCCCTCGGGCCATCCCTTGAGGAACTCCCCTCCCCAGTGCTGCTGGGGGCAGACACGAAGATGCCAGTGTCGGTGCAGAGCAGGGATGAGCTGAAGGCCTGGGGTGGTGGGCCCAGCAGTCCTACCTTTAAACAGAGGGGCAGGCGGAGGAGGGGGTTCACACCGACTTTCAAATAGAGAAAATCCAAGGGCAGGAGGCTGAGCAGGTCCATCTGAAATCCCAGTGGGACACCATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGATGTCAGGAGTTCGAGACCAGACTGCCCAACATGGTGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGTGTGGTGACGCACACTTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGGAGTGCTTGAACGAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGAACTCCAGCCTGGGAGACAGAGTTAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAGAAAGATAACTTCTGGGGGCTACCCAGCCTGTGCTGGTCTCCTGGGGCTTGTGGTTTGGAGGACACTCCCACAGGGACCAGCATCCCTCCGTGTGGCAGAAACCACATCTCATGAACGCCCCAGGCACCCAGGGCCCTCTGAGGCACCCCCTTCTGAAACCCCGCAGACGCTAAACCTTGCATGCCCGGCACACACCTTGAAGCGGCGAGACTTCAGGTAGTTATTTCGCATGTCCTTTTTGTCCGTCTGAAAGAAAGGGAATGATGATGGTGAAATGACCTTACAGCTTAATCTCTGACCCTGTGGAGCAATTGTGAAACTTCCCCAAGAACCCCACCCTGAAACGAGCATAACAGCCCAAGGACCATCTGAGCCTTGGTGAAAGCCTTGAGTTTTATGGGTGGAGAGGCCCAGCCCCCAGGGAGGAGGGATCTGTTCTGGTCACCCAGCTAGATCCTGATTTCTTGGGTGGAAAGCAAGGACATTAAGCTTATTCCCTCTGCCCATTGGTCTTACCTGGACCATTTGCACATCTGTTTACTAAGGAATTGGTAGTCACTCTGATCAGGCCAGAAAAGAGGTTCTCCAAGGAAATCTCTTTACTTTTTACTTTACTCTCTTTAAATCTCTCCAAGGAAAATCGTTTACAGGCAAAACCTGAGCTTGTCTGCACACAGCAAAACAGGCACTGCCGGGGTGGAATTTTGGAAAGTGACCCACACTGGGAGACAGGGACTGTGTCTCCTGTTCCTGAGAAGTCACAGTCAGGGCCTCAGTTTCCTCCCTGGTAAGGCAGGGGTGGTGCACGGGGCTGGACCAGAGGCCAGGGTCTCAAATTGGCCCAAGTAGGAGAGCATCAGTGTGTTTTTGCAGGACCCCTGGGAGAAGTCAATTGCCAGTGGATACCTGTGCTGAGCGCCCCGCATGCATCGTTTCAACCAATCCTCATGGCAACACTGGGAGGTGGAAGCTATTACTAGCCCCATTCTACAGATGAGGAAACAGAGGCGATTCAGCTAGTTGTGGTGGAGGTGGGATTCAAACCAGGTACATCCTCACTAAAGACCATTCCCTGGACCACTTCTCTATCTTTGATTCTGTCAAGTGGTCCAGGAACTATTTCACCTATGAGCAATATCTGATGTGCGTAATTTGAACGTATCAAAGGCATGCAAAATAAACAACCATGCTATTGAACAAGCACAGCAGCCGTTCTTGAGATTTCCTTATTCACTTATTTTGTCATCTATGACAGCATCAGGGGTCAGTGCCCTGGAGGCTCTGGCTGAGCGGTCTGCCCCCGGTCACCCCAACACCACCTGCCTGTGACTCACAATGATGTCCCCGCCTCTGACAAACTGCAGGCGTGTCTG
Task1_train_22762
This alteration in CNGB1 (cyclic nucleotide gated channel subunit beta 1) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Retinitis pigmentosa 45
AATCTTGTTCTCACAATTTGCATATAATTTCAGGGGACTCCTGGACCCTCTGAATTCTATCATGAGACTTTTAGGGGTACATGCATCCAGGTTAAAGCTGCTGTTTTTAATGTTTCTTATAAAGAAAACAATTTAATAAAGAGACAGCATCCCTAACACCCCACTCTTATATCCTTCAAAGGTTTATTTATAAGAATAAAAGTATATTAATAACTACTTTTCTTTATTGAGCACCTATTATATGACTGGCATATGCCTTTTTTTGTTTTGTTTTTTCAGAGACAGAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTACAGTCATAGATAACCACAGCCTCGAACTTCTGGGCTCAAGCGATTTTTCAGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCACACATCAACACTCATGGGTAATTTTTAAATTTTTTGTAGAGACAGAGTCTCACTGTGTTACCCAGGTTGGTCTCACATTTCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCTTAAAGTGCTGGTATTACAAGCATGAGCCGCCACACCCAGCCAGCACATACATTTATATACATTACCTTATTCCTTATTTACATATGAAGTATGTATTATCATTCTCCTTTGACAGAAATTGGTGCTCAGGGAAGTCCAGTAACTTGTCCAAAGCACACAGCTGGTATGTGAGAGAGTCAGCATTCCAACCCAGGCCAGACTCAGAGCTGCAAGCTCTCTCCTTATGCTATACCACCTCTAGATCTTTGGATTTATTTTTTGATATTTGAAAATAGTATTTATGAAGATTCTCTAAGGGATATTCCAGTTATCATCCATGTGTTCATTCTAGTTCCAGCCACAGTTTAAACTGGAGGCAGAAAGAACAGGGGCTTGGATGGCTCACTTAAAGAGTTTTGTCCACTGAATGGTGTTCAATGTTAGGCCTGTGAGTTTTGCCCCCTCACTGGGGCCACCATGTGACCCAAGGTATGGATCTCACCTCTGCGTCTGGGGTGAAACTTGGCCTGTGGACCCAACCTTCCTCACTCTGATGTTTGGCTCTAAAGCAACCTCTGCAGCCCCTGGGAGGCTGGTATGTGTCAAATAAGAATGGTGCCAATTCCACTTTCCCCCTTCCTCTTGGCAGCCAGGAAGCTCAGAGGCAGCTTCCATGCTCGATTCCACATAGGTGTGCTTTCTTCTCATCAGGGCACTTGCACGCCCCCTAGTTTTCTCTGCCCTGTTTCTCTGGGTTGTTCATGTTATTGCATTTGCATTTTTTGTAAATTCCCTCAGTACTGTTTTCAGAAAAAGGCACCAGTCTTCATTTCAGGAGACAGATGAATGTGATTGGTTGGCCATCAAAATCCATTTGGGGGATCCTGAATGCTCTGAGTGGCTATCCACCCTGATCACGTGACAGGACCATGGCCAGCTGTGGCAGCCAGACCATCCTGGAGACTTTCGCTCTGCCCAGTGAGTGCCAGAAGGAATGGCTGGAATGACACTGAGGCCTGGCCAGTGATGAAACGGGTGTCTGGCTGTGCATTCAAATCCATCCCTGGCACTTCCTTGCTCCTGCGACCTAGGGCAAGTCCCCCAGCCTCTCCAAGCACCAATGTCCCCATCTTTTAGACAGAGACCATCATAAAGCAGAAGATCCCCTCTTGAGAGTCTCTATAATCACTGAGAGCGTAAACAGTGGAGACAGATGACCTGCATTCATATCTGGGCTCCACTCCCTCCTGGCTGTGTGACTTTGGGCAAATTAATTAACCTCTCTGTGCCCCAGTCCTTCATTTGTAAAATGCTGGCAATAATACTACCTAACATGCAGCACCACAGAAGCACTAGCAAATTGTAATGAACTTTCCACTAAGACACACGTGGAATAAATGCATCTCCCCTCGGGCCATCCCTTGAGGAACTCCCCTCCCCAGTGCTGCTGGGGGCAGACACGAAGATGCCAGTGTCGGTGCAGAGCAGGGATGAGCTGAAGGCCTGGGGTGGTGGGCCCAGCAGTCCTACCTTTAAACAGCGGGGCAGGCGGAGGAGGGGGTTCACACCGACTTTCAAATAGAGAAAATCCAAGGGCAGGAGGCTGAGCAGGTCCATCTGAAATCCCAGTGGGACACCATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGATGTCAGGAGTTCGAGACCAGACTGCCCAACATGGTGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGTGTGGTGACGCACACTTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGGAGTGCTTGAACGAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGAACTCCAGCCTGGGAGACAGAGTTAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAGAAAGATAACTTCTGGGGGCTACCCAGCCTGTGCTGGTCTCCTGGGGCTTGTGGTTTGGAGGACACTCCCACAGGGACCAGCATCCCTCCGTGTGGCAGAAACCACATCTCATGAACGCCCCAGGCACCCAGGGCCCTCTGAGGCACCCCCTTCTGAAACCCCGCAGACGCTAAACCTTGCATGCCCGGCACACACCTTGAAGCGGCGAGACTTCAGGTAGTTATTTCGCATGTCCTTTTTGTCCGTCTGAAAGAAAGGGAATGATGATGGTGAAATGACCTTACAGCTTAATCTCTGACCCTGTGGAGCAATTGTGAAACTTCCCCAAGAACCCCACCCTGAAACGAGCATAACAGCCCAAGGACCATCTGAGCCTTGGTGAAAGCCTTGAGTTTTATGGGTGGAGAGGCCCAGCCCCCAGGGAGGAGGGATCTGTTCTGGTCACCCAGCTAGATCCTGATTTCTTGGGTGGAAAGCAAGGACATTAAGCTTATTCCCTCTGCCCATTGGTCTTACCTGGACCATTTGCACATCTGTTTACTAAGGAATTGGTAGTCACTCTGATCAGGCCAGAAAAGAGGTTCTCCAAGGAAATCTCTTTACTTTTTACTTTACTCTCTTTAAATCTCTCCAAGGAAAATCGTTTACAGGCAAAACCTGAGCTTGTCTGCACACAGCAAAACAGGCACTGCCGGGGTGGAATTTTGGAAAGTGACCCACACTGGGAGACAGGGACTGTGTCTCCTGTTCCTGAGAAGTCACAGTCAGGGCCTCAGTTTCCTCCCTGGTAAGGCAGGGGTGGTGCACGGGGCTGGACCAGAGGCCAGGGTCTCAAATTGGCCCAAGTAGGAGAGCATCAGTGTGTTTTTGCAGGACCCCTGGGAGAAGTCAATTGCCAGTGGATACCTGTGCTGAGCGCCCCGCATGCATCGTTTCAACCAATCCTCATGGCAACACTGGGAGGTGGAAGCTATTACTAGCCCCATTCTACAGATGAGGAAACAGAGGCGATTCAGCTAGTTGTGGTGGAGGTGGGATTCAAACCAGGTACATCCTCACTAAAGACCATTCCCTGGACCACTTCTCTATCTTTGATTCTGTCAAGTGGTCCAGGAACTATTTCACCTATGAGCAATATCTGATGTGCGTAATTTGAACGTATCAAAGGCATGCAAAATAAACAACCATGCTATTGAACAAGCACAGCAGCCGTTCTTGAGATTTCCTTATTCACTTATTTTGTCATCTATGACAGCATCAGGGGTCAGTGCCCTGGAGGCTCTGGCTGAGCGGTCTGCCCCCGGTCACCCCAACACCACCTGCCTGTGACTCACAATGATGTCCCCGCCTCTGACAAACTGCAGGCGTGTCTGGAACACGGTG
AATCTTGTTCTCACAATTTGCATATAATTTCAGGGGACTCCTGGACCCTCTGAATTCTATCATGAGACTTTTAGGGGTACATGCATCCAGGTTAAAGCTGCTGTTTTTAATGTTTCTTATAAAGAAAACAATTTAATAAAGAGACAGCATCCCTAACACCCCACTCTTATATCCTTCAAAGGTTTATTTATAAGAATAAAAGTATATTAATAACTACTTTTCTTTATTGAGCACCTATTATATGACTGGCATATGCCTTTTTTTGTTTTGTTTTTTCAGAGACAGAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTACAGTCATAGATAACCACAGCCTCGAACTTCTGGGCTCAAGCGATTTTTCAGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCACACATCAACACTCATGGGTAATTTTTAAATTTTTTGTAGAGACAGAGTCTCACTGTGTTACCCAGGTTGGTCTCACATTTCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCTTAAAGTGCTGGTATTACAAGCATGAGCCGCCACACCCAGCCAGCACATACATTTATATACATTACCTTATTCCTTATTTACATATGAAGTATGTATTATCATTCTCCTTTGACAGAAATTGGTGCTCAGGGAAGTCCAGTAACTTGTCCAAAGCACACAGCTGGTATGTGAGAGAGTCAGCATTCCAACCCAGGCCAGACTCAGAGCTGCAAGCTCTCTCCTTATGCTATACCACCTCTAGATCTTTGGATTTATTTTTTGATATTTGAAAATAGTATTTATGAAGATTCTCTAAGGGATATTCCAGTTATCATCCATGTGTTCATTCTAGTTCCAGCCACAGTTTAAACTGGAGGCAGAAAGAACAGGGGCTTGGATGGCTCACTTAAAGAGTTTTGTCCACTGAATGGTGTTCAATGTTAGGCCTGTGAGTTTTGCCCCCTCACTGGGGCCACCATGTGACCCAAGGTATGGATCTCACCTCTGCGTCTGGGGTGAAACTTGGCCTGTGGACCCAACCTTCCTCACTCTGATGTTTGGCTCTAAAGCAACCTCTGCAGCCCCTGGGAGGCTGGTATGTGTCAAATAAGAATGGTGCCAATTCCACTTTCCCCCTTCCTCTTGGCAGCCAGGAAGCTCAGAGGCAGCTTCCATGCTCGATTCCACATAGGTGTGCTTTCTTCTCATCAGGGCACTTGCACGCCCCCTAGTTTTCTCTGCCCTGTTTCTCTGGGTTGTTCATGTTATTGCATTTGCATTTTTTGTAAATTCCCTCAGTACTGTTTTCAGAAAAAGGCACCAGTCTTCATTTCAGGAGACAGATGAATGTGATTGGTTGGCCATCAAAATCCATTTGGGGGATCCTGAATGCTCTGAGTGGCTATCCACCCTGATCACGTGACAGGACCATGGCCAGCTGTGGCAGCCAGACCATCCTGGAGACTTTCGCTCTGCCCAGTGAGTGCCAGAAGGAATGGCTGGAATGACACTGAGGCCTGGCCAGTGATGAAACGGGTGTCTGGCTGTGCATTCAAATCCATCCCTGGCACTTCCTTGCTCCTGCGACCTAGGGCAAGTCCCCCAGCCTCTCCAAGCACCAATGTCCCCATCTTTTAGACAGAGACCATCATAAAGCAGAAGATCCCCTCTTGAGAGTCTCTATAATCACTGAGAGCGTAAACAGTGGAGACAGATGACCTGCATTCATATCTGGGCTCCACTCCCTCCTGGCTGTGTGACTTTGGGCAAATTAATTAACCTCTCTGTGCCCCAGTCCTTCATTTGTAAAATGCTGGCAATAATACTACCTAACATGCAGCACCACAGAAGCACTAGCAAATTGTAATGAACTTTCCACTAAGACACACGTGGAATAAATGCATCTCCCCTCGGGCCATCCCTTGAGGAACTCCCCTCCCCAGTGCTGCTGGGGGCAGACACGAAGATGCCAGTGTCGGTGCAGAGCAGGGATGAGCTGAAGGCCTGGGGTGGTGGGCCCAGCAGTCCTACCTTTAAACAGCGGGGCAGGCAGAGGAGGGGGTTCACACCGACTTTCAAATAGAGAAAATCCAAGGGCAGGAGGCTGAGCAGGTCCATCTGAAATCCCAGTGGGACACCATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGATGTCAGGAGTTCGAGACCAGACTGCCCAACATGGTGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGTGTGGTGACGCACACTTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGGAGTGCTTGAACGAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGAACTCCAGCCTGGGAGACAGAGTTAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAGAAAGATAACTTCTGGGGGCTACCCAGCCTGTGCTGGTCTCCTGGGGCTTGTGGTTTGGAGGACACTCCCACAGGGACCAGCATCCCTCCGTGTGGCAGAAACCACATCTCATGAACGCCCCAGGCACCCAGGGCCCTCTGAGGCACCCCCTTCTGAAACCCCGCAGACGCTAAACCTTGCATGCCCGGCACACACCTTGAAGCGGCGAGACTTCAGGTAGTTATTTCGCATGTCCTTTTTGTCCGTCTGAAAGAAAGGGAATGATGATGGTGAAATGACCTTACAGCTTAATCTCTGACCCTGTGGAGCAATTGTGAAACTTCCCCAAGAACCCCACCCTGAAACGAGCATAACAGCCCAAGGACCATCTGAGCCTTGGTGAAAGCCTTGAGTTTTATGGGTGGAGAGGCCCAGCCCCCAGGGAGGAGGGATCTGTTCTGGTCACCCAGCTAGATCCTGATTTCTTGGGTGGAAAGCAAGGACATTAAGCTTATTCCCTCTGCCCATTGGTCTTACCTGGACCATTTGCACATCTGTTTACTAAGGAATTGGTAGTCACTCTGATCAGGCCAGAAAAGAGGTTCTCCAAGGAAATCTCTTTACTTTTTACTTTACTCTCTTTAAATCTCTCCAAGGAAAATCGTTTACAGGCAAAACCTGAGCTTGTCTGCACACAGCAAAACAGGCACTGCCGGGGTGGAATTTTGGAAAGTGACCCACACTGGGAGACAGGGACTGTGTCTCCTGTTCCTGAGAAGTCACAGTCAGGGCCTCAGTTTCCTCCCTGGTAAGGCAGGGGTGGTGCACGGGGCTGGACCAGAGGCCAGGGTCTCAAATTGGCCCAAGTAGGAGAGCATCAGTGTGTTTTTGCAGGACCCCTGGGAGAAGTCAATTGCCAGTGGATACCTGTGCTGAGCGCCCCGCATGCATCGTTTCAACCAATCCTCATGGCAACACTGGGAGGTGGAAGCTATTACTAGCCCCATTCTACAGATGAGGAAACAGAGGCGATTCAGCTAGTTGTGGTGGAGGTGGGATTCAAACCAGGTACATCCTCACTAAAGACCATTCCCTGGACCACTTCTCTATCTTTGATTCTGTCAAGTGGTCCAGGAACTATTTCACCTATGAGCAATATCTGATGTGCGTAATTTGAACGTATCAAAGGCATGCAAAATAAACAACCATGCTATTGAACAAGCACAGCAGCCGTTCTTGAGATTTCCTTATTCACTTATTTTGTCATCTATGACAGCATCAGGGGTCAGTGCCCTGGAGGCTCTGGCTGAGCGGTCTGCCCCCGGTCACCCCAACACCACCTGCCTGTGACTCACAATGATGTCCCCGCCTCTGACAAACTGCAGGCGTGTCTGGAACACGGTG
Task1_train_22763
The gene CNGB1 (cyclic nucleotide gated channel subunit beta 1), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Retinitis pigmentosa 45
CATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGATGTCAGGAGTTCGAGACCAGACTGCCCAACATGGTGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGTGTGGTGACGCACACTTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGGAGTGCTTGAACGAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGAACTCCAGCCTGGGAGACAGAGTTAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAGAAAGATAACTTCTGGGGGCTACCCAGCCTGTGCTGGTCTCCTGGGGCTTGTGGTTTGGAGGACACTCCCACAGGGACCAGCATCCCTCCGTGTGGCAGAAACCACATCTCATGAACGCCCCAGGCACCCAGGGCCCTCTGAGGCACCCCCTTCTGAAACCCCGCAGACGCTAAACCTTGCATGCCCGGCACACACCTTGAAGCGGCGAGACTTCAGGTAGTTATTTCGCATGTCCTTTTTGTCCGTCTGAAAGAAAGGGAATGATGATGGTGAAATGACCTTACAGCTTAATCTCTGACCCTGTGGAGCAATTGTGAAACTTCCCCAAGAACCCCACCCTGAAACGAGCATAACAGCCCAAGGACCATCTGAGCCTTGGTGAAAGCCTTGAGTTTTATGGGTGGAGAGGCCCAGCCCCCAGGGAGGAGGGATCTGTTCTGGTCACCCAGCTAGATCCTGATTTCTTGGGTGGAAAGCAAGGACATTAAGCTTATTCCCTCTGCCCATTGGTCTTACCTGGACCATTTGCACATCTGTTTACTAAGGAATTGGTAGTCACTCTGATCAGGCCAGAAAAGAGGTTCTCCAAGGAAATCTCTTTACTTTTTACTTTACTCTCTTTAAATCTCTCCAAGGAAAATCGTTTACAGGCAAAACCTGAGCTTGTCTGCACACAGCAAAACAGGCACTGCCGGGGTGGAATTTTGGAAAGTGACCCACACTGGGAGACAGGGACTGTGTCTCCTGTTCCTGAGAAGTCACAGTCAGGGCCTCAGTTTCCTCCCTGGTAAGGCAGGGGTGGTGCACGGGGCTGGACCAGAGGCCAGGGTCTCAAATTGGCCCAAGTAGGAGAGCATCAGTGTGTTTTTGCAGGACCCCTGGGAGAAGTCAATTGCCAGTGGATACCTGTGCTGAGCGCCCCGCATGCATCGTTTCAACCAATCCTCATGGCAACACTGGGAGGTGGAAGCTATTACTAGCCCCATTCTACAGATGAGGAAACAGAGGCGATTCAGCTAGTTGTGGTGGAGGTGGGATTCAAACCAGGTACATCCTCACTAAAGACCATTCCCTGGACCACTTCTCTATCTTTGATTCTGTCAAGTGGTCCAGGAACTATTTCACCTATGAGCAATATCTGATGTGCGTAATTTGAACGTATCAAAGGCATGCAAAATAAACAACCATGCTATTGAACAAGCACAGCAGCCGTTCTTGAGATTTCCTTATTCACTTATTTTGTCATCTATGACAGCATCAGGGGTCAGTGCCCTGGAGGCTCTGGCTGAGCGGTCTGCCCCCGGTCACCCCAACACCACCTGCCTGTGACTCACAATGATGTCCCCGCCTCTGACAAACTGCAGGCGTGTCTGGAACACGGTGATGTCCAGGAAGTAGATGAGGTCGCATAGGTAATCCATCAGCAGCCAGTGGTGGATGTTGTCCGGGGTCTGGTAGGGGAAGGCCCAGCGCACGGGAATCAGCCAACAGTTCCAATTCCAGGCCATCACCACGAAGAACAGCCATAGGACATACATCAGGTCTGTGGGGAAGGTTGACGGGGACGCTAGAGCATCAGCCAGGCAAGGCTCTTCACCAGTTGGATCAGGTAGGGTTTTGTTCTTTCTACTCCTTCAACTACTACATGTGGCACTTTTGTAAGAGTGTGTGTATGTGTGTGTGTGTGTATATATACACACACACACACACACACACATACACACACACACAACTCTCTGCTTTAGGAGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCTAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTAAGACCAGCCTGGACAACATAGCAAGACCCCCATCTCTACTTAAAAAAAAAAACACAACTATCTGTTTTAAAAATAAATTACTGCTAATCCCTAATAAATCAGAGTACTCTCAGGAGGGACTATGCTGGTATTATAAGATAATAGGCAGCCAACTGGAAAACTCATTTGCTTTTATTCTTCTTTAATTTTTTCCCAAAATGTATTTTCTTCCTCAGTAAATACAGAATAGTAAATAATGCATGAAGGATGGACAGATAGATGGACAGACAGGTGAATGCATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTATTCCAGATCATCTGGTTATTTATTTATTTATTTATTTATTTATTTATTTATTTACTATTTTTGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGCAGTTCTTTCACTACAGCCTCTCACAGTGCTGGGATTACAGGTGTGAGCCAATGTACCCAGCCCATCAGGTTATTTAAAGAATCCAGTGGACACCAGGGTTGAAGTCCTGCCCCCCAAATGTGTGACCTTGAGAAAGTCCCTCTCTGGCACCTGCCCTCTTCTGAGAAATCACAGGAAAAGGTCAGATAAGAAAGGCAGGGAGCCCTCTGTAAACTCTAAAGTGCTATGCACATATGAAGTGGGTTATTTCTGAGGAATATGAAGTGGGCTTAAAGGGAAGCAAGAGGAATTCACATTCCTGCTCTTTTTCTGTTCAGAGCAGGAGCTCTAGGAAAAGGCCAGCACGACCAGAGTGAAAAAGGACTTGGCCAAGAGTCAGGAGTCCTGGGTCCGCACTAACTAGTTGCATCTTTACCCTGGCTGACTTATCTGTACCTTAGTTTCCTCATCTGTAAAATGGGTATGATCTTATGTTCCTATTCCAGGGACTTTTGTTGTTGTTTTTAAGACAGAGTCTCACTCTGTCACCTAGGTTGGAATGCAATTGTGCGATCTTGACTCAGTGCACTCTCCACCTCCTGGATTCAAATGATTCTCCTGCTTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAATAGAGGCAGGGTTTCGTCATGTTAGCCAGGCTGGGTTTGTTTTGAGAATCAGGCAAGAAACTGTGGAATACTTTTGAAAGGTATAAAAGATCATGAACCCAGGTTGTCTGTGGCCTCCCATCCCACCTCTTGAATCCCCTGACCCTCTCCCCATCCCGCTCCAACTCTCCTGCTCTCTCATCTTACACAGTGGGAACACCCATTCCCCAGGACTCACTGGTCAGCGGGTCAATGCTCTGGGGAAACTGGTACTTCTTCCAGGGGCGGTGTTTGAACTTGCAGCAGAGCATGTCGCAATAGTGCTCCTCTTCCACTGGCTCGGCTTCAGCGGGCTTTGTGTCTGGAGCTGGCTCTGGGGCTTTCTTGGCTGGGGCTGTGGGATGACATTGGTGACCATCTGAACCAGCCCTGAGGCCCAGGTAGAGGATGCAGAGAGAAGGGTCCCAACTGCAGACCTTGGATCCAGATCTGAGAGGACCCTGGCACCATTATACAAGCTACTGCAAGCTCTGTGTGCAGAACCCAAGGTGCTCTTCTGGAGTGAACTCCACAACCCTCCTCAACAGCAAC
CATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGATGTCAGGAGTTCGAGACCAGACTGCCCAACATGGTGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGTGTGGTGACGCACACTTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGGAGTGCTTGAACGAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGAACTCCAGCCTGGGAGACAGAGTTAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAGAAAGATAACTTCTGGGGGCTACCCAGCCTGTGCTGGTCTCCTGGGGCTTGTGGTTTGGAGGACACTCCCACAGGGACCAGCATCCCTCCGTGTGGCAGAAACCACATCTCATGAACGCCCCAGGCACCCAGGGCCCTCTGAGGCACCCCCTTCTGAAACCCCGCAGACGCTAAACCTTGCATGCCCGGCACACACCTTGAAGCGGCGAGACTTCAGGTAGTTATTTCGCATGTCCTTTTTGTCCGTCTGAAAGAAAGGGAATGATGATGGTGAAATGACCTTACAGCTTAATCTCTGACCCTGTGGAGCAATTGTGAAACTTCCCCAAGAACCCCACCCTGAAACGAGCATAACAGCCCAAGGACCATCTGAGCCTTGGTGAAAGCCTTGAGTTTTATGGGTGGAGAGGCCCAGCCCCCAGGGAGGAGGGATCTGTTCTGGTCACCCAGCTAGATCCTGATTTCTTGGGTGGAAAGCAAGGACATTAAGCTTATTCCCTCTGCCCATTGGTCTTACCTGGACCATTTGCACATCTGTTTACTAAGGAATTGGTAGTCACTCTGATCAGGCCAGAAAAGAGGTTCTCCAAGGAAATCTCTTTACTTTTTACTTTACTCTCTTTAAATCTCTCCAAGGAAAATCGTTTACAGGCAAAACCTGAGCTTGTCTGCACACAGCAAAACAGGCACTGCCGGGGTGGAATTTTGGAAAGTGACCCACACTGGGAGACAGGGACTGTGTCTCCTGTTCCTGAGAAGTCACAGTCAGGGCCTCAGTTTCCTCCCTGGTAAGGCAGGGGTGGTGCACGGGGCTGGACCAGAGGCCAGGGTCTCAAATTGGCCCAAGTAGGAGAGCATCAGTGTGTTTTTGCAGGACCCCTGGGAGAAGTCAATTGCCAGTGGATACCTGTGCTGAGCGCCCCGCATGCATCGTTTCAACCAATCCTCATGGCAACACTGGGAGGTGGAAGCTATTACTAGCCCCATTCTACAGATGAGGAAACAGAGGCGATTCAGCTAGTTGTGGTGGAGGTGGGATTCAAACCAGGTACATCCTCACTAAAGACCATTCCCTGGACCACTTCTCTATCTTTGATTCTGTCAAGTGGTCCAGGAACTATTTCACCTATGAGCAATATCTGATGTGCGTAATTTGAACGTATCAAAGGCATGCAAAATAAACAACCATGCTATTGAACAAGCACAGCAGCCGTTCTTGAGATTTCCTTATTCACTTATTTTGTCATCTATGACAGCATCAGGGGTCAGTGCCCTGGAGGCTCTGGCTGAGCGGTCTGCCCCCGGTCACCCCAACACCACCTGCCTGTGACTCACAATGATGTCCCCGCCTCTGACAAACTGCAGGCGTGTCTGGAACACGGTGATGTCCAGGAAGTAGATGAGGTCGCATAGGTAATCCATCAGCAGCCAGTGGTGGATGTTGTCCGGGGTCTGGTAGGGGAAGGCCCAGTGCACGGGAATCAGCCAACAGTTCCAATTCCAGGCCATCACCACGAAGAACAGCCATAGGACATACATCAGGTCTGTGGGGAAGGTTGACGGGGACGCTAGAGCATCAGCCAGGCAAGGCTCTTCACCAGTTGGATCAGGTAGGGTTTTGTTCTTTCTACTCCTTCAACTACTACATGTGGCACTTTTGTAAGAGTGTGTGTATGTGTGTGTGTGTGTATATATACACACACACACACACACACACATACACACACACACAACTCTCTGCTTTAGGAGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCTAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTAAGACCAGCCTGGACAACATAGCAAGACCCCCATCTCTACTTAAAAAAAAAAACACAACTATCTGTTTTAAAAATAAATTACTGCTAATCCCTAATAAATCAGAGTACTCTCAGGAGGGACTATGCTGGTATTATAAGATAATAGGCAGCCAACTGGAAAACTCATTTGCTTTTATTCTTCTTTAATTTTTTCCCAAAATGTATTTTCTTCCTCAGTAAATACAGAATAGTAAATAATGCATGAAGGATGGACAGATAGATGGACAGACAGGTGAATGCATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTATTCCAGATCATCTGGTTATTTATTTATTTATTTATTTATTTATTTATTTATTTACTATTTTTGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGCAGTTCTTTCACTACAGCCTCTCACAGTGCTGGGATTACAGGTGTGAGCCAATGTACCCAGCCCATCAGGTTATTTAAAGAATCCAGTGGACACCAGGGTTGAAGTCCTGCCCCCCAAATGTGTGACCTTGAGAAAGTCCCTCTCTGGCACCTGCCCTCTTCTGAGAAATCACAGGAAAAGGTCAGATAAGAAAGGCAGGGAGCCCTCTGTAAACTCTAAAGTGCTATGCACATATGAAGTGGGTTATTTCTGAGGAATATGAAGTGGGCTTAAAGGGAAGCAAGAGGAATTCACATTCCTGCTCTTTTTCTGTTCAGAGCAGGAGCTCTAGGAAAAGGCCAGCACGACCAGAGTGAAAAAGGACTTGGCCAAGAGTCAGGAGTCCTGGGTCCGCACTAACTAGTTGCATCTTTACCCTGGCTGACTTATCTGTACCTTAGTTTCCTCATCTGTAAAATGGGTATGATCTTATGTTCCTATTCCAGGGACTTTTGTTGTTGTTTTTAAGACAGAGTCTCACTCTGTCACCTAGGTTGGAATGCAATTGTGCGATCTTGACTCAGTGCACTCTCCACCTCCTGGATTCAAATGATTCTCCTGCTTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAATAGAGGCAGGGTTTCGTCATGTTAGCCAGGCTGGGTTTGTTTTGAGAATCAGGCAAGAAACTGTGGAATACTTTTGAAAGGTATAAAAGATCATGAACCCAGGTTGTCTGTGGCCTCCCATCCCACCTCTTGAATCCCCTGACCCTCTCCCCATCCCGCTCCAACTCTCCTGCTCTCTCATCTTACACAGTGGGAACACCCATTCCCCAGGACTCACTGGTCAGCGGGTCAATGCTCTGGGGAAACTGGTACTTCTTCCAGGGGCGGTGTTTGAACTTGCAGCAGAGCATGTCGCAATAGTGCTCCTCTTCCACTGGCTCGGCTTCAGCGGGCTTTGTGTCTGGAGCTGGCTCTGGGGCTTTCTTGGCTGGGGCTGTGGGATGACATTGGTGACCATCTGAACCAGCCCTGAGGCCCAGGTAGAGGATGCAGAGAGAAGGGTCCCAACTGCAGACCTTGGATCCAGATCTGAGAGGACCCTGGCACCATTATACAAGCTACTGCAAGCTCTGTGTGCAGAACCCAAGGTGCTCTTCTGGAGTGAACTCCACAACCCTCCTCAACAGCAAC
Task1_train_22764
The gene CNGB1 (cyclic nucleotide gated channel subunit beta 1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Retinitis pigmentosa 45
ATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGATGTCAGGAGTTCGAGACCAGACTGCCCAACATGGTGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGTGTGGTGACGCACACTTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGGAGTGCTTGAACGAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGAACTCCAGCCTGGGAGACAGAGTTAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAGAAAGATAACTTCTGGGGGCTACCCAGCCTGTGCTGGTCTCCTGGGGCTTGTGGTTTGGAGGACACTCCCACAGGGACCAGCATCCCTCCGTGTGGCAGAAACCACATCTCATGAACGCCCCAGGCACCCAGGGCCCTCTGAGGCACCCCCTTCTGAAACCCCGCAGACGCTAAACCTTGCATGCCCGGCACACACCTTGAAGCGGCGAGACTTCAGGTAGTTATTTCGCATGTCCTTTTTGTCCGTCTGAAAGAAAGGGAATGATGATGGTGAAATGACCTTACAGCTTAATCTCTGACCCTGTGGAGCAATTGTGAAACTTCCCCAAGAACCCCACCCTGAAACGAGCATAACAGCCCAAGGACCATCTGAGCCTTGGTGAAAGCCTTGAGTTTTATGGGTGGAGAGGCCCAGCCCCCAGGGAGGAGGGATCTGTTCTGGTCACCCAGCTAGATCCTGATTTCTTGGGTGGAAAGCAAGGACATTAAGCTTATTCCCTCTGCCCATTGGTCTTACCTGGACCATTTGCACATCTGTTTACTAAGGAATTGGTAGTCACTCTGATCAGGCCAGAAAAGAGGTTCTCCAAGGAAATCTCTTTACTTTTTACTTTACTCTCTTTAAATCTCTCCAAGGAAAATCGTTTACAGGCAAAACCTGAGCTTGTCTGCACACAGCAAAACAGGCACTGCCGGGGTGGAATTTTGGAAAGTGACCCACACTGGGAGACAGGGACTGTGTCTCCTGTTCCTGAGAAGTCACAGTCAGGGCCTCAGTTTCCTCCCTGGTAAGGCAGGGGTGGTGCACGGGGCTGGACCAGAGGCCAGGGTCTCAAATTGGCCCAAGTAGGAGAGCATCAGTGTGTTTTTGCAGGACCCCTGGGAGAAGTCAATTGCCAGTGGATACCTGTGCTGAGCGCCCCGCATGCATCGTTTCAACCAATCCTCATGGCAACACTGGGAGGTGGAAGCTATTACTAGCCCCATTCTACAGATGAGGAAACAGAGGCGATTCAGCTAGTTGTGGTGGAGGTGGGATTCAAACCAGGTACATCCTCACTAAAGACCATTCCCTGGACCACTTCTCTATCTTTGATTCTGTCAAGTGGTCCAGGAACTATTTCACCTATGAGCAATATCTGATGTGCGTAATTTGAACGTATCAAAGGCATGCAAAATAAACAACCATGCTATTGAACAAGCACAGCAGCCGTTCTTGAGATTTCCTTATTCACTTATTTTGTCATCTATGACAGCATCAGGGGTCAGTGCCCTGGAGGCTCTGGCTGAGCGGTCTGCCCCCGGTCACCCCAACACCACCTGCCTGTGACTCACAATGATGTCCCCGCCTCTGACAAACTGCAGGCGTGTCTGGAACACGGTGATGTCCAGGAAGTAGATGAGGTCGCATAGGTAATCCATCAGCAGCCAGTGGTGGATGTTGTCCGGGGTCTGGTAGGGGAAGGCCCAGCGCACGGGAATCAGCCAACAGTTCCAATTCCAGGCCATCACCACGAAGAACAGCCATAGGACATACATCAGGTCTGTGGGGAAGGTTGACGGGGACGCTAGAGCATCAGCCAGGCAAGGCTCTTCACCAGTTGGATCAGGTAGGGTTTTGTTCTTTCTACTCCTTCAACTACTACATGTGGCACTTTTGTAAGAGTGTGTGTATGTGTGTGTGTGTGTATATATACACACACACACACACACACACATACACACACACACAACTCTCTGCTTTAGGAGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCTAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTAAGACCAGCCTGGACAACATAGCAAGACCCCCATCTCTACTTAAAAAAAAAAACACAACTATCTGTTTTAAAAATAAATTACTGCTAATCCCTAATAAATCAGAGTACTCTCAGGAGGGACTATGCTGGTATTATAAGATAATAGGCAGCCAACTGGAAAACTCATTTGCTTTTATTCTTCTTTAATTTTTTCCCAAAATGTATTTTCTTCCTCAGTAAATACAGAATAGTAAATAATGCATGAAGGATGGACAGATAGATGGACAGACAGGTGAATGCATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTATTCCAGATCATCTGGTTATTTATTTATTTATTTATTTATTTATTTATTTATTTACTATTTTTGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGCAGTTCTTTCACTACAGCCTCTCACAGTGCTGGGATTACAGGTGTGAGCCAATGTACCCAGCCCATCAGGTTATTTAAAGAATCCAGTGGACACCAGGGTTGAAGTCCTGCCCCCCAAATGTGTGACCTTGAGAAAGTCCCTCTCTGGCACCTGCCCTCTTCTGAGAAATCACAGGAAAAGGTCAGATAAGAAAGGCAGGGAGCCCTCTGTAAACTCTAAAGTGCTATGCACATATGAAGTGGGTTATTTCTGAGGAATATGAAGTGGGCTTAAAGGGAAGCAAGAGGAATTCACATTCCTGCTCTTTTTCTGTTCAGAGCAGGAGCTCTAGGAAAAGGCCAGCACGACCAGAGTGAAAAAGGACTTGGCCAAGAGTCAGGAGTCCTGGGTCCGCACTAACTAGTTGCATCTTTACCCTGGCTGACTTATCTGTACCTTAGTTTCCTCATCTGTAAAATGGGTATGATCTTATGTTCCTATTCCAGGGACTTTTGTTGTTGTTTTTAAGACAGAGTCTCACTCTGTCACCTAGGTTGGAATGCAATTGTGCGATCTTGACTCAGTGCACTCTCCACCTCCTGGATTCAAATGATTCTCCTGCTTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAATAGAGGCAGGGTTTCGTCATGTTAGCCAGGCTGGGTTTGTTTTGAGAATCAGGCAAGAAACTGTGGAATACTTTTGAAAGGTATAAAAGATCATGAACCCAGGTTGTCTGTGGCCTCCCATCCCACCTCTTGAATCCCCTGACCCTCTCCCCATCCCGCTCCAACTCTCCTGCTCTCTCATCTTACACAGTGGGAACACCCATTCCCCAGGACTCACTGGTCAGCGGGTCAATGCTCTGGGGAAACTGGTACTTCTTCCAGGGGCGGTGTTTGAACTTGCAGCAGAGCATGTCGCAATAGTGCTCCTCTTCCACTGGCTCGGCTTCAGCGGGCTTTGTGTCTGGAGCTGGCTCTGGGGCTTTCTTGGCTGGGGCTGTGGGATGACATTGGTGACCATCTGAACCAGCCCTGAGGCCCAGGTAGAGGATGCAGAGAGAAGGGTCCCAACTGCAGACCTTGGATCCAGATCTGAGAGGACCCTGGCACCATTATACAAGCTACTGCAAGCTCTGTGTGCAGAACCCAAGGTGCTCTTCTGGAGTGAACTCCACAACCCTCCTCAACAGCAACA
ATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGATGTCAGGAGTTCGAGACCAGACTGCCCAACATGGTGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGTGTGGTGACGCACACTTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGGAGTGCTTGAACGAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGAACTCCAGCCTGGGAGACAGAGTTAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAGAAAGATAACTTCTGGGGGCTACCCAGCCTGTGCTGGTCTCCTGGGGCTTGTGGTTTGGAGGACACTCCCACAGGGACCAGCATCCCTCCGTGTGGCAGAAACCACATCTCATGAACGCCCCAGGCACCCAGGGCCCTCTGAGGCACCCCCTTCTGAAACCCCGCAGACGCTAAACCTTGCATGCCCGGCACACACCTTGAAGCGGCGAGACTTCAGGTAGTTATTTCGCATGTCCTTTTTGTCCGTCTGAAAGAAAGGGAATGATGATGGTGAAATGACCTTACAGCTTAATCTCTGACCCTGTGGAGCAATTGTGAAACTTCCCCAAGAACCCCACCCTGAAACGAGCATAACAGCCCAAGGACCATCTGAGCCTTGGTGAAAGCCTTGAGTTTTATGGGTGGAGAGGCCCAGCCCCCAGGGAGGAGGGATCTGTTCTGGTCACCCAGCTAGATCCTGATTTCTTGGGTGGAAAGCAAGGACATTAAGCTTATTCCCTCTGCCCATTGGTCTTACCTGGACCATTTGCACATCTGTTTACTAAGGAATTGGTAGTCACTCTGATCAGGCCAGAAAAGAGGTTCTCCAAGGAAATCTCTTTACTTTTTACTTTACTCTCTTTAAATCTCTCCAAGGAAAATCGTTTACAGGCAAAACCTGAGCTTGTCTGCACACAGCAAAACAGGCACTGCCGGGGTGGAATTTTGGAAAGTGACCCACACTGGGAGACAGGGACTGTGTCTCCTGTTCCTGAGAAGTCACAGTCAGGGCCTCAGTTTCCTCCCTGGTAAGGCAGGGGTGGTGCACGGGGCTGGACCAGAGGCCAGGGTCTCAAATTGGCCCAAGTAGGAGAGCATCAGTGTGTTTTTGCAGGACCCCTGGGAGAAGTCAATTGCCAGTGGATACCTGTGCTGAGCGCCCCGCATGCATCGTTTCAACCAATCCTCATGGCAACACTGGGAGGTGGAAGCTATTACTAGCCCCATTCTACAGATGAGGAAACAGAGGCGATTCAGCTAGTTGTGGTGGAGGTGGGATTCAAACCAGGTACATCCTCACTAAAGACCATTCCCTGGACCACTTCTCTATCTTTGATTCTGTCAAGTGGTCCAGGAACTATTTCACCTATGAGCAATATCTGATGTGCGTAATTTGAACGTATCAAAGGCATGCAAAATAAACAACCATGCTATTGAACAAGCACAGCAGCCGTTCTTGAGATTTCCTTATTCACTTATTTTGTCATCTATGACAGCATCAGGGGTCAGTGCCCTGGAGGCTCTGGCTGAGCGGTCTGCCCCCGGTCACCCCAACACCACCTGCCTGTGACTCACAATGATGTCCCCGCCTCTGACAAACTGCAGGCGTGTCTGGAACACGGTGATGTCCAGGAAGTAGATGAGGTCGCATAGGTAATCCATCAGCAGCCAGTGGTGGATGTTGTCCGGGGTCTGGTAGGGGAAGGCCCAGCACACGGGAATCAGCCAACAGTTCCAATTCCAGGCCATCACCACGAAGAACAGCCATAGGACATACATCAGGTCTGTGGGGAAGGTTGACGGGGACGCTAGAGCATCAGCCAGGCAAGGCTCTTCACCAGTTGGATCAGGTAGGGTTTTGTTCTTTCTACTCCTTCAACTACTACATGTGGCACTTTTGTAAGAGTGTGTGTATGTGTGTGTGTGTGTATATATACACACACACACACACACACACATACACACACACACAACTCTCTGCTTTAGGAGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCTAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTAAGACCAGCCTGGACAACATAGCAAGACCCCCATCTCTACTTAAAAAAAAAAACACAACTATCTGTTTTAAAAATAAATTACTGCTAATCCCTAATAAATCAGAGTACTCTCAGGAGGGACTATGCTGGTATTATAAGATAATAGGCAGCCAACTGGAAAACTCATTTGCTTTTATTCTTCTTTAATTTTTTCCCAAAATGTATTTTCTTCCTCAGTAAATACAGAATAGTAAATAATGCATGAAGGATGGACAGATAGATGGACAGACAGGTGAATGCATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTATTCCAGATCATCTGGTTATTTATTTATTTATTTATTTATTTATTTATTTATTTACTATTTTTGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGCAGTTCTTTCACTACAGCCTCTCACAGTGCTGGGATTACAGGTGTGAGCCAATGTACCCAGCCCATCAGGTTATTTAAAGAATCCAGTGGACACCAGGGTTGAAGTCCTGCCCCCCAAATGTGTGACCTTGAGAAAGTCCCTCTCTGGCACCTGCCCTCTTCTGAGAAATCACAGGAAAAGGTCAGATAAGAAAGGCAGGGAGCCCTCTGTAAACTCTAAAGTGCTATGCACATATGAAGTGGGTTATTTCTGAGGAATATGAAGTGGGCTTAAAGGGAAGCAAGAGGAATTCACATTCCTGCTCTTTTTCTGTTCAGAGCAGGAGCTCTAGGAAAAGGCCAGCACGACCAGAGTGAAAAAGGACTTGGCCAAGAGTCAGGAGTCCTGGGTCCGCACTAACTAGTTGCATCTTTACCCTGGCTGACTTATCTGTACCTTAGTTTCCTCATCTGTAAAATGGGTATGATCTTATGTTCCTATTCCAGGGACTTTTGTTGTTGTTTTTAAGACAGAGTCTCACTCTGTCACCTAGGTTGGAATGCAATTGTGCGATCTTGACTCAGTGCACTCTCCACCTCCTGGATTCAAATGATTCTCCTGCTTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAATAGAGGCAGGGTTTCGTCATGTTAGCCAGGCTGGGTTTGTTTTGAGAATCAGGCAAGAAACTGTGGAATACTTTTGAAAGGTATAAAAGATCATGAACCCAGGTTGTCTGTGGCCTCCCATCCCACCTCTTGAATCCCCTGACCCTCTCCCCATCCCGCTCCAACTCTCCTGCTCTCTCATCTTACACAGTGGGAACACCCATTCCCCAGGACTCACTGGTCAGCGGGTCAATGCTCTGGGGAAACTGGTACTTCTTCCAGGGGCGGTGTTTGAACTTGCAGCAGAGCATGTCGCAATAGTGCTCCTCTTCCACTGGCTCGGCTTCAGCGGGCTTTGTGTCTGGAGCTGGCTCTGGGGCTTTCTTGGCTGGGGCTGTGGGATGACATTGGTGACCATCTGAACCAGCCCTGAGGCCCAGGTAGAGGATGCAGAGAGAAGGGTCCCAACTGCAGACCTTGGATCCAGATCTGAGAGGACCCTGGCACCATTATACAAGCTACTGCAAGCTCTGTGTGCAGAACCCAAGGTGCTCTTCTGGAGTGAACTCCACAACCCTCCTCAACAGCAACA
Task1_train_22765
This variant impacts the gene USB1 (U6 snRNA biogenesis phosphodiesterase 1) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
Pathogenic; Poikiloderma with neutropenia
TCAAGTTGATTGATTGTATATTATCAGGACTCTCTTAACCACAGGTGCCAGAAGCCCATGCCAGAAGCCCAACCCAAAGTGGCTTAAACCAAAGAGAAATTTATAGGCTGGTATAACTAAAAGATTCAGAGGTAGCACTGGCTCATGCATGAGTGGACCGGGGTGACAAGATATCAGATGGCACCTGACTGTCACCACCACAGGCAGACTGTTCACCATCTCAGCTCTGTCCCCTTCCTTTGTCACAATGACGAAGCCACCGCATCTCCCGGCTAATGGTGTACCAGCCTGGAAAGACAGCCTCCCTCTCTGATTGGCTTCAGCACAAGTCACAGGAATGACTGCCTGGTCTGACCCGTCTCCTGTGTGCTTTCTTTGGGAGTAAAGAGTTAACAGGCCCTTCCCCCTTCCACAGAGAGTGCTTCCCTTATCCTGCGGAAGCTCTGCCCCTGGATGAAGGAGGAGAGCGGCTATGTTAGTGCTGATGACTGGCACACTGCACTTGCGCTAGGAAGACAGCATGAACTGCACCCCTCCAGGGAAGCCACGGCCTGGGCTCCCCTGCATACAGTGGTTCCTTAACTGGGCACGAGTCCCTTGCTGGGACTTAGGAAAACTCTGCCTAAAGTCCATTGCAAGAAATACTGATCCCTGTGGGATGTATATGTGGCTGGTTCCCTTGCTCACTGAGAGACTAGAAAACAGCACCTGGACCCCTGGGCTGGTTCCCTCTGAGGAAAGGATCTGTGTCATGAGTGAAGCCCGGGCAGGTGTGGTCTGTTCAACTTTGATCATCTGGTTGAGCCTAAGGTGACCAAGAGTGGGCGGTGCACCCCTGATTCTGTTGCTGTGACTGAGGAAATGCTAAGCTCTGTTTGGCCAGGCCTGGGCAGCCTGCCTCTGGAGTAGGGGTGGAGAGCCATCCTGCAACACGAGGTTACCAGGAGAAGGAGTTTTGGTTGGGCACAGACATCCAGTGTCCACTCCAGGATGTTTGGGAGACACCTTGAGAACTCTTCCTAAAAGCTGCACTTAACCAAGCTCCTGGTGGTTCTGTGATCCCTTACATTTTCTCCAGAGGCAGAGAGTTGGCTGACTGACTTTTGCCCTTGGGCAGATTGTGAGGCTCTACCCAGCATGCTGGTATATTATGTTCCCTCAGATGGGGGTGAGACCCTTGGCCTGGGGGCTGTAAAATGATCTGTTTCTGTGAGGAGACTTTCCATGGTGAGATTGCTAGTGTCTCAGAGAATAAAGGACAGAACCAGTCCAAGTCAAAGCACTTACCTAGCTGAGCCTGACTCTTCCCGTGTTATTGATCTGAGGGGTGGGTGGGTGGGGGCATCTGTCTCGATTTCACACCAACAGACCTATTCCCCTCACGAAAGCGTCATAGGTGACAACAAGGACTCTGGAAACAGGCAGACTGACTGTTCCAATCCTGGCTCACCAAATTCAGCTTCACCATGCCTCTGTTTCTTTGTCTGTAAAATGGGCATAATTGTAGGCCTGCTCACAGAGTTGTGTGAGGATTCGAGAAACAGAGTGTGCAAAGGCTTGAGCTCAGCCCTGACACACGAAGAAATGTTGTCGTGATTGCTTAGATGAAATCGGAGTCATCTATTTTAAAAAACTGCAAGAAATGAATCAGCTGTTAAGTGGTCCATTATCACCTACTTGATCAATAAGGCTTTCTCAGTTCCCATCAGTGAAGTTGAGATAGTCTCAAATTGTTTATCGAAATGAACTGCTATTAACAAAGTAAAATTTTTACTAGCACCTGGATGATGTTGTGTGTTACTCGGGCTGGGTGATTTTAAGGTCTTGTCCAGCTCTAATGTTTAAGGTTCAGTATACCACCTGCATAATGGGGTGATAATATGAAGTGCAAAATGAGTTAACTATATTTTCAAAGTGCTGTTTTTTTTTAACATAAGCTATTTTTTCTGCTTTTTTTCTTACGATTTTTCCTGAAATATGGTCTTCTAAATTTCAGATTCTTCTTTACTGCCAACCAGGTAAAGATTTACACCAATCAAGAGAAAACCAGGTGGGTCCTCCCAACCCCCAATCACCATCAGAGGAAGATTCTTTGGTGCAAAAATTGAGTGCTTTGTTTCTGGACTTGTTTGTCCCATTTTTTGTTTGCTTTTAACCAACTCTATGACTATAAAGGCAGCTATCCCCAAATCTGAACCTTTCTTTAAGAAAAATAACTGGGAGATCCCAGGCACAGTAGCGCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAAGCAGGTGGATAGCTTGAGCTCAGGAGTTCCAGACCAGCCTGGGCAACATGGCCAAACCGTGTCTCTATGAAAAATACAAAAATTAGCTGAGCATGGTAGTGTGTGCCTGTAGTTCCAGCTACTTGGGAGGCTGAGATGGGAGGATCGCTTGAGCCCTGGAGGTCGAGGCTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAATAAAAGGCCAGGTGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCCTGACATGGCGAAACCCCATCTCCACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCTAGAGGAGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTATCCTGGGTGACAAGAGTGAAACTCTGTCTCAAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATGACTGGAGGAGCATGTAGTGGGGTGGTGCCCAGAGATTGAGAGAAGCATCTTGGTTTAGTGAAAACCTGTGAAAGTCAGGAAACCTGTTTCTGCCCAGCTCCATCCCAGTTGTGGTGTTTAGTCCGTGTCTTCATCTCTGTGACCTTTCATTTTCACACTGGCACACGCCTCCCAACATCCACTGTTGGGCAGTTGTAAGGCTCAAATGAGCCCCAAGGCCTTTGAAAAGTTAAAAGTATTAAAGTGTTAGATGAACATAAGAAGAAATGATTATCCTGCCTTCAAAGCGAGCCTCCCTGTCTGATGCACTCACTGGGCCACCTTCTCTGAGCACTTCTGAAAGGGGCCTCATTTATTCATTCATTTATTCCATGCTGCACAAGTTTGTTAAGCACCCACTTGTGCCAGGCATTTGCTGTACACTAAGGATTCATCAGTGAAGAGGTAGACACAGCCCCTGCTCTTTTCAATCTCATATTCAGAGGGGAGACAGATAATAAACAAGTAATGAGAGTGTTTGTTAATAACTGTGGTGTGATATGGTCAGGAGTGGGTAGTCCAGGAGGGTACCAGGGAAGTGGCCAGGGAGATGGCATTTGATGGTGACCTGAGAATGAGAAGCCAGCCTTGGGAAGAGCTGTTGCAAGAGCTTCAAGCAGAGGACATAGCAAACTAAGTGACTCCGAGGCAGGGAAGATTTCAGCATGTTTGAGGAGGCCAGTGAGGCAGACCCCAGAAAGCACGAGGGAGAATGATAGGAGATGAGATGGGTAGGGTTAGCCCATCCAGGGGCTGCAAGCTCAAGTAAGGAGTTTGAATTTTCAGTATAATGGAAGCCATTGGAGGGATTTGAACAGAGGAGAGGCATGACCTGATCTATATCTGGGGATGTCAGTCTGGCTAGTGGTGTGTCTGTGGCCATGGAGTCTGGGGGCAAGATAGAAGGGAGCAAGAGTGGATGCAGGGAAACCAGAGAGGAGCCAGGTGTCATTGTCCAGGTGAGGGACCATTGGTGGCCTAGATTAGGGTGATGGCCATGGAAGACCAAGAGGTGGACACATTGGAGATACACTAGAGGCAGAAGCAACCAAATTACCAATGGGTTGGATTTATGTGAAGCAAGGGGAAGACGAACATTGATTCCTGGGTTTGAGGCTAGAACAACTGGCCCCGTTTTCTGTGATAAGAGACACTGGTGGGATGAAAAGCAAAAGTGCTGCTTTGTACCTGTTTGTTTGTACCTGCTAG
TCAAGTTGATTGATTGTATATTATCAGGACTCTCTTAACCACAGGTGCCAGAAGCCCATGCCAGAAGCCCAACCCAAAGTGGCTTAAACCAAAGAGAAATTTATAGGCTGGTATAACTAAAAGATTCAGAGGTAGCACTGGCTCATGCATGAGTGGACCGGGGTGACAAGATATCAGATGGCACCTGACTGTCACCACCACAGGCAGACTGTTCACCATCTCAGCTCTGTCCCCTTCCTTTGTCACAATGACGAAGCCACCGCATCTCCCGGCTAATGGTGTACCAGCCTGGAAAGACAGCCTCCCTCTCTGATTGGCTTCAGCACAAGTCACAGGAATGACTGCCTGGTCTGACCCGTCTCCTGTGTGCTTTCTTTGGGAGTAAAGAGTTAACAGGCCCTTCCCCCTTCCACAGAGAGTGCTTCCCTTATCCTGCGGAAGCTCTGCCCCTGGATGAAGGAGGAGAGCGGCTATGTTAGTGCTGATGACTGGCACACTGCACTTGCGCTAGGAAGACAGCATGAACTGCACCCCTCCAGGGAAGCCACGGCCTGGGCTCCCCTGCATACAGTGGTTCCTTAACTGGGCACGAGTCCCTTGCTGGGACTTAGGAAAACTCTGCCTAAAGTCCATTGCAAGAAATACTGATCCCTGTGGGATGTATATGTGGCTGGTTCCCTTGCTCACTGAGAGACTAGAAAACAGCACCTGGACCCCTGGGCTGGTTCCCTCTGAGGAAAGGATCTGTGTCATGAGTGAAGCCCGGGCAGGTGTGGTCTGTTCAACTTTGATCATCTGGTTGAGCCTAAGGTGACCAAGAGTGGGCGGTGCACCCCTGATTCTGTTGCTGTGACTGAGGAAATGCTAAGCTCTGTTTGGCCAGGCCTGGGCAGCCTGCCTCTGGAGTAGGGGTGGAGAGCCATCCTGCAACACGAGGTTACCAGGAGAAGGAGTTTTGGTTGGGCACAGACATCCAGTGTCCACTCCAGGATGTTTGGGAGACACCTTGAGAACTCTTCCTAAAAGCTGCACTTAACCAAGCTCCTGGTGGTTCTGTGATCCCTTACATTTTCTCCAGAGGCAGAGAGTTGGCTGACTGACTTTTGCCCTTGGGCAGATTGTGAGGCTCTACCCAGCATGCTGGTATATTATGTTCCCTCAGATGGGGGTGAGACCCTTGGCCTGGGGGCTGTAAAATGATCTGTTTCTGTGAGGAGACTTTCCATGGTGAGATTGCTAGTGTCTCAGAGAATAAAGGACAGAACCAGTCCAAGTCAAAGCACTTACCTAGCTGAGCCTGACTCTTCCCGTGTTATTGATCTGAGGGGTGGGTGGGTGGGGGCATCTGTCTCGATTTCACACCAACAGACCTATTCCCCTCACGAAAGCGTCATAGGTGACAACAAGGACTCTGGAAACAGGCAGACTGACTGTTCCAATCCTGGCTCACCAAATTCAGCTTCACCATGCCTCTGTTTCTTTGTCTGTAAAATGGGCATAATTGTAGGCCTGCTCACAGAGTTGTGTGAGGATTCGAGAAACAGAGTGTGCAAAGGCTTGAGCTCAGCCCTGACACACGAAGAAATGTTGTCGTGATTGCTTAGATGAAATCGGAGTCATCTATTTTAAAAAACTGCAAGAAATGAATCAGCTGTTAAGTGGTCCATTATCACCTACTTGATCAATAAGGCTTTCTCAGTTCCCATCAGTGAAGTTGAGATAGTCTCAAATTGTTTATCGAAATGAACTGCTATTAACAAAGTAAAATTTTTACTAGCACCTGGATGATGTTGTGTGTTACTCGGGCTGGGTGATTTTAAGGTCTTGTCCAGCTCTAATGTTTAAGGTTCAGTATACCACCTGCATAATGGGGTGATAATATGAAGTGCAAAATGAGTTAACTATATTTTCAAAGTGCTGTTTTTTTTTAACATAAGCTATTTTTTCTGCTTTTTTTCTTACGATTTTTCCTGAAATATGGTCTTCTAAATTTCAGATTCTTCTTTACTGCCAACCAGGTAAAGATTTACACCAATCAAGAGAAAACCGGGTGGGTCCTCCCAACCCCCAATCACCATCAGAGGAAGATTCTTTGGTGCAAAAATTGAGTGCTTTGTTTCTGGACTTGTTTGTCCCATTTTTTGTTTGCTTTTAACCAACTCTATGACTATAAAGGCAGCTATCCCCAAATCTGAACCTTTCTTTAAGAAAAATAACTGGGAGATCCCAGGCACAGTAGCGCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAAGCAGGTGGATAGCTTGAGCTCAGGAGTTCCAGACCAGCCTGGGCAACATGGCCAAACCGTGTCTCTATGAAAAATACAAAAATTAGCTGAGCATGGTAGTGTGTGCCTGTAGTTCCAGCTACTTGGGAGGCTGAGATGGGAGGATCGCTTGAGCCCTGGAGGTCGAGGCTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAATAAAAGGCCAGGTGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCCTGACATGGCGAAACCCCATCTCCACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCTAGAGGAGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTATCCTGGGTGACAAGAGTGAAACTCTGTCTCAAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATGACTGGAGGAGCATGTAGTGGGGTGGTGCCCAGAGATTGAGAGAAGCATCTTGGTTTAGTGAAAACCTGTGAAAGTCAGGAAACCTGTTTCTGCCCAGCTCCATCCCAGTTGTGGTGTTTAGTCCGTGTCTTCATCTCTGTGACCTTTCATTTTCACACTGGCACACGCCTCCCAACATCCACTGTTGGGCAGTTGTAAGGCTCAAATGAGCCCCAAGGCCTTTGAAAAGTTAAAAGTATTAAAGTGTTAGATGAACATAAGAAGAAATGATTATCCTGCCTTCAAAGCGAGCCTCCCTGTCTGATGCACTCACTGGGCCACCTTCTCTGAGCACTTCTGAAAGGGGCCTCATTTATTCATTCATTTATTCCATGCTGCACAAGTTTGTTAAGCACCCACTTGTGCCAGGCATTTGCTGTACACTAAGGATTCATCAGTGAAGAGGTAGACACAGCCCCTGCTCTTTTCAATCTCATATTCAGAGGGGAGACAGATAATAAACAAGTAATGAGAGTGTTTGTTAATAACTGTGGTGTGATATGGTCAGGAGTGGGTAGTCCAGGAGGGTACCAGGGAAGTGGCCAGGGAGATGGCATTTGATGGTGACCTGAGAATGAGAAGCCAGCCTTGGGAAGAGCTGTTGCAAGAGCTTCAAGCAGAGGACATAGCAAACTAAGTGACTCCGAGGCAGGGAAGATTTCAGCATGTTTGAGGAGGCCAGTGAGGCAGACCCCAGAAAGCACGAGGGAGAATGATAGGAGATGAGATGGGTAGGGTTAGCCCATCCAGGGGCTGCAAGCTCAAGTAAGGAGTTTGAATTTTCAGTATAATGGAAGCCATTGGAGGGATTTGAACAGAGGAGAGGCATGACCTGATCTATATCTGGGGATGTCAGTCTGGCTAGTGGTGTGTCTGTGGCCATGGAGTCTGGGGGCAAGATAGAAGGGAGCAAGAGTGGATGCAGGGAAACCAGAGAGGAGCCAGGTGTCATTGTCCAGGTGAGGGACCATTGGTGGCCTAGATTAGGGTGATGGCCATGGAAGACCAAGAGGTGGACACATTGGAGATACACTAGAGGCAGAAGCAACCAAATTACCAATGGGTTGGATTTATGTGAAGCAAGGGGAAGACGAACATTGATTCCTGGGTTTGAGGCTAGAACAACTGGCCCCGTTTTCTGTGATAAGAGACACTGGTGGGATGAAAAGCAAAAGTGCTGCTTTGTACCTGTTTGTTTGTACCTGCTAG
Task1_train_22766
This genomic variant is located on Chromosome 16, within the CNOT1 (CCR4-NOT transcription complex subunit 1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Vissers-Bodmer syndrome
AGGAACATTGCGTGCAAACTCTTCGTAAACAGCCAACTGCTTTGGGTCCACACCACCAACCTTGAAAGAAGAAAACCTATTTTGACAGAATTCACTCAATAATCAAAATAAACTGTTTTGAAAGTGGAAAGTCTGCATGTGGGTAAGCTCAGGGACACAAGAGTCATTACAACATATAACAGCATGATTAAGCATGCACGCACACACAAATGCAGTTCAGAAGAGGGCTTCTCATTTCCCTGAATCCTGCTAAGAGTCACCTCATTTATAAATTAACTGAGAGTTTCTCTTGGAAAATGCCTCACATGGGACGATGCCAGTGCAATTCTCCCTTGAAGCTGGTAAATATTATCAGATTTCTCACTGTCTCACTGGGAACAATAAGCAACCATTAATGTGAGAAGCCCAAGTTGGGAAACATGAAAACTAGCAGGCACATGAACTCCTTAGAGTAATAACACTTCAACAACTCTGGAGGAGCAAGGGAATTTAGAGCTATTTCCATACCTCCTCCACAGGCAGCCATTCAGTGAAATGCTATCAAGTTAAGATGTTTTCTCATAAACAATATTTAACCCTGCTGTCCTAATTCCAGTAAGGAGTTCAATCAACAACAACATTAAAAATAAAACAAAGATGGGACGGGGAAAGACAGAGCCCCAATTCTCACTTTCAGCCTGATTTGCTCTGGCATCCGTTCAGCTTGATATGTTAAAACAACAGGATCACAGTATCTGCGTCCTTCTTGCCTAGCATGTTTTCTCAGCTCAAATTCCTGCAAACAAAAAAAGTCACTGAGGTTCTTGTTATAAGGCACTTCCCTAAATTAAAAAAGAAAATCTTAAAAGGCAAATTCTAAACACTTACAGTTGCTAATCTCTTGTCCATCTCAGGGCCTGCTTTTTCTACTGCAGTCTTCTGAATAAAACAGCAAGCCAACTCACAATTGTCCTGAGCTAATTGAGCAGCTGCCTGATCCATCATTTCTCTTTGTTGTGGGGAAGCAGTCTATTAATGGAGGTGGGTGGGGGGGTGGGGGGAATAGAAGGAAAAAGACTTGAAAGTTGATGTGGACAGACAGGATAGTAGAAAATGCAGTGCATTTGGCAAATGCATTTTAAGTTCTGACTCTACTTATGAACAAGCTGTGATCTTGAAACAGTCTTAACAGCTTCCTCACTTTTAAGACAAAAATATCCTAGACACCTTATCAGTTTATTGTGAACATGCCTTAAAATCAGTAAAGCAGGCCAGACGCGGTGGCTCACACCTCTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACATGGTGAAGCCACTTCTCTACTAAAAAAATACATAAATTAGTGGGGCGTGGTAGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCACGAGAATCAGTTGAACCTCAGAGGTGGAGGATGCAGTGAGCCAAGACTGCACCACTGTACTCTAGCCTAAGCTACAGAGTGAGACCCTGTCTCATGAAACATTAAAAAAAAGGCAAAAAACAACCAAAAAAAATCATTAAAGCAGTAAACAAATTATTAATCATGATACCTGAATTATTAACCATGATATCTGAGACTCAAAACTAGTAAGTGAATTATTTGAAAAGTGTGTGCACATGCAACATCACTTTAAGTCATTTTGTATCGGCCTTCTCAAACAGCTTTCATCCTTCCTGGTTAACAGAAATGAGATTGTCAGATATCACATTTCCTTTTTAAATCTTAATTTATTTAAACCAACAAATATTTGGGTATCTACTATCTGTCAAACATCGTGTTGAGAATATAACAGAAAAAAAAAAAAACACACAGACATGATGCTTTGCCTCACAGAATTACAATCTAAAATGATGGAAGACATCAAACAAATATGGTGATTATTAAGAATAAGTGGTAACGCCCAGTGCCATATATAGACAAAGAAAAAAATTATTACAGACAAGCAGTAATACGTTTTGTACCTATACCAAGGAAATAGCCAACTTACACGAAGGGCTGAGGCAAAACTGTTTTTTAAGTTGGTAGATATGCTCATGAGCAAAGGTTCCCTGCATGTAATCATAGCCATTCCAGCTGTCAAGTTACGCATCATGTGATGAGCTGCTATTCGCATTCGAGATTCCTCCGAATCCAGGGCAAAATCCTTCCTGACTATTTGCTCACAAGTAGTCATGGCAATCTTAATTGATCGATCCACCACAGGATGGACCAGCTCCTGGACAGCCCGTTCAATTGCCTGACGCACACACTGCTTCAACTGTGGATGGGCCTGAAACAAGGGAATCTGGGGGGTTGGGGAGGACAAAGTCAACACCTTGTTTAAATAAGACAATCCAATTCCTACTGGCAATCACATTCATGATTTTGTAAATCAAGATTAACCAAAAACTACCAGTTTCTACTTAAAGTTAACCAATGGAAAATTCGGGTAACAGAAACTGAGCTCCATACAGGGAAATGTATTCAGTATACCCTGTGATACACAATAATAGATATGTCTTTTTTTTAAATCCAAGTTTAATGGACAAACTGTTCATTACAATATGCATTAACTACTTAAAGACACACTGCTGGCTTATTTAAAATTTGTGGCTCAAGTGCTCTTAAAAGAAAGCAACTTCTCCACTAGCTTGGGAAAATGTAAAAAGAATAAAGTTTATAGAAAAAAGACTTCTTACAAAAACTATTAAAATTAATTCATCAGAATAGTGAGCATTTTACAGTGCCCACTGAAGTATTTGGCTTCATTTGAAAGGCTGTTTCTAATCTTTTATTGCAGGTGTAAATTATGCCCCAAAACTTACTTGGTCCCTTTAACTTGTTGAATTAAAAAAAAAAAAAATTAAACTAGCATATAATAGTGTTCACAACACTAAGAGTATTCTAAAGATGAATCACAATTTCTGGATCTAGGTGTCCCACTGCCTCTCACTCCACCCCTCTAAAACTAAGTACCATGTCTATAGGAGTGGGGATGGGGGGACAAGGATAAAATGATTTCTCTGATACCCTTTCAATTCCTTTTAATAAAAAGTTCAATGTATTAATGTTACTCTTGTATTTGTGAACATTTTCAGTTTCTAAAAAGTAAGGACAATGAAAACTCCACTCACCTGATTCTGTATTATATATTCTGTTAAGTAGAATAAAAGACTAAAGATAACAATAAAATGTCCCCTTGAATGTACAAAGCAAATACTAACTATAGGAAAAAGGACTGATCAGAGGTCATCTTACATGACCATATTGTATCAGACCTCCTTCTGGAACCAGGCCACAACAACATAACTCAAAGTGCTAAGTCCTACTTCAAGATCTTAGCCTAGAAATTGTATACACACCCACAATCAGCTCATTTCCAGCCTTCAGGTGGAAGAAATGGCTTACTGCAGAAGGCTAAAGTGACAAGATAAAGAAAATAAAAAGCTATGATATACATTAAGCATCTTTTACTCTGTGTAAGGAATTCCTGGAGATTGTGATTTTATTGCTAGCTAAATTTTAGTATCATGGGTTTGGATATGAGGAACCAATATAACTAACATCTAGTCACTCTATCTCTTAAGGGAAGAAGAACAATCCCAACTGAACTACACAGCAGTTCTAGATCTCCATCCTCTCTGACAAACTCTACAACCTAGGAATCCAGAGGGAAGGGCAAAGAGCTGAAGAAAAGGTGGCCAAACAAAATTTACCTTATCACAAACTAGAAGCTGGGAGAATGGAGCAGTGTTTACTTACTGTTGGATTCAGAGTAATGTGTGGTGCCAAGCCCGCAAGGGAATAGACATTGATGTCGTGGTAGCTGTACTGTGGCTGTGGTGGAACCGTGGCTGTACAAGTGGTGTTGGTAGCTGGTGTAGTAGAAGTTGCTAAATGTCAAGTAATAAAAAGAGATTTAAAAAGTACATTTGTTGACTTTATTATAAAATTAGCTTAATATCATTAAGTGGTCATTATCTAATTAAACGAATTAAATTGGGAGAGGAGGGAAGGATGTAGCAGGTCCTATTTTTCCCACCCTGAAAGGGAAATTC
AGGAACATTGCGTGCAAACTCTTCGTAAACAGCCAACTGCTTTGGGTCCACACCACCAACCTTGAAAGAAGAAAACCTATTTTGACAGAATTCACTCAATAATCAAAATAAACTGTTTTGAAAGTGGAAAGTCTGCATGTGGGTAAGCTCAGGGACACAAGAGTCATTACAACATATAACAGCATGATTAAGCATGCACGCACACACAAATGCAGTTCAGAAGAGGGCTTCTCATTTCCCTGAATCCTGCTAAGAGTCACCTCATTTATAAATTAACTGAGAGTTTCTCTTGGAAAATGCCTCACATGGGACGATGCCAGTGCAATTCTCCCTTGAAGCTGGTAAATATTATCAGATTTCTCACTGTCTCACTGGGAACAATAAGCAACCATTAATGTGAGAAGCCCAAGTTGGGAAACATGAAAACTAGCAGGCACATGAACTCCTTAGAGTAATAACACTTCAACAACTCTGGAGGAGCAAGGGAATTTAGAGCTATTTCCATACCTCCTCCACAGGCAGCCATTCAGTGAAATGCTATCAAGTTAAGATGTTTTCTCATAAACAATATTTAACCCTGCTGTCCTAATTCCAGTAAGGAGTTCAATCAACAACAACATTAAAAATAAAACAAAGATGGGACGGGGAAAGACAGAGCCCCAATTCTCACTTTCAGCCTGATTTGCTCTGGCATCCGTTCAGCTTGATATGTTAAAACAACAGGATCACAGTATCTGCGTCCTTCTTGCCTAGCATGTTTTCTCAGCTCAAATTCCTGCAAACAAAAAAAGTCACTGAGGTTCTTGTTATAAGGCACTTCCCTAAATTAAAAAAGAAAATCTTAAAAGGCAAATTCTAAACACTTACAGTTGCTAATCTCTTGTCCATCTCAGGGCCTGCTTTTTCTACTGCAGTCTTCTGAATAAAACAGCAAGCCAACTCACAATTGTCCTGAGCTAATTGAGCAGCTGCCTGATCCATCATTTCTCTTTGTTGTGGGGAAGCAGTCTATTAATGGAGGTGGGTGGGGGGGTGGGGGGAATAGAAGGAAAAAGACTTGAAAGTTGATGTGGACAGACAGGATAGTAGAAAATGCAGTGCATTTGGCAAATGCATTTTAAGTTCTGACTCTACTTATGAACAAGCTGTGATCTTGAAACAGTCTTAACAGCTTCCTCACTTTTAAGACAAAAATATCCTAGACACCTTATCAGTTTATTGTGAACATGCCTTAAAATCAGTAAAGCAGGCCAGACGCGGTGGCTCACACCTCTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACATGGTGAAGCCACTTCTCTACTAAAAAAATACATAAATTAGTGGGGCGTGGTAGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCACGAGAATCAGTTGAACCTCAGAGGTGGAGGATGCAGTGAGCCAAGACTGCACCACTGTACTCTAGCCTAAGCTACAGAGTGAGACCCTGTCTCATGAAACATTAAAAAAAAGGCAAAAAACAACCAAAAAAAATCATTAAAGCAGTAAACAAATTATTAATCATGATACCTGAATTATTAACCATGATATCTGAGACTCAAAACTAGTAAGTGAATTATTTGAAAAGTGTGTGCACATGCAACATCACTTTAAGTCATTTTGTATCGGCCTTCTCAAACAGCTTTCATCCTTCCTGGTTAACAGAAATGAGATTGTCAGATATCACATTTCCTTTTTAAATCTTAATTTATTTAAACCAACAAATATTTGGGTATCTACTATCTGTCAAACATCGTGTTGAGAATATAACAGAAAAAAAAAAAAACACACAGACATGATGCTTTGCCTCACAGAATTACAATCTAAAATGATGGAAGACATCAAACAAATATGGTGATTATTAAGAATAAGTGGTAACGCCCAGTGCCATATATAGACAAAGAAAAAAATTATTACAGACAAGCAGTAATACGTTTTGTACCTATACCAAGGAAATAGCCAACTTACACAAAGGGCTGAGGCAAAACTGTTTTTTAAGTTGGTAGATATGCTCATGAGCAAAGGTTCCCTGCATGTAATCATAGCCATTCCAGCTGTCAAGTTACGCATCATGTGATGAGCTGCTATTCGCATTCGAGATTCCTCCGAATCCAGGGCAAAATCCTTCCTGACTATTTGCTCACAAGTAGTCATGGCAATCTTAATTGATCGATCCACCACAGGATGGACCAGCTCCTGGACAGCCCGTTCAATTGCCTGACGCACACACTGCTTCAACTGTGGATGGGCCTGAAACAAGGGAATCTGGGGGGTTGGGGAGGACAAAGTCAACACCTTGTTTAAATAAGACAATCCAATTCCTACTGGCAATCACATTCATGATTTTGTAAATCAAGATTAACCAAAAACTACCAGTTTCTACTTAAAGTTAACCAATGGAAAATTCGGGTAACAGAAACTGAGCTCCATACAGGGAAATGTATTCAGTATACCCTGTGATACACAATAATAGATATGTCTTTTTTTTAAATCCAAGTTTAATGGACAAACTGTTCATTACAATATGCATTAACTACTTAAAGACACACTGCTGGCTTATTTAAAATTTGTGGCTCAAGTGCTCTTAAAAGAAAGCAACTTCTCCACTAGCTTGGGAAAATGTAAAAAGAATAAAGTTTATAGAAAAAAGACTTCTTACAAAAACTATTAAAATTAATTCATCAGAATAGTGAGCATTTTACAGTGCCCACTGAAGTATTTGGCTTCATTTGAAAGGCTGTTTCTAATCTTTTATTGCAGGTGTAAATTATGCCCCAAAACTTACTTGGTCCCTTTAACTTGTTGAATTAAAAAAAAAAAAAATTAAACTAGCATATAATAGTGTTCACAACACTAAGAGTATTCTAAAGATGAATCACAATTTCTGGATCTAGGTGTCCCACTGCCTCTCACTCCACCCCTCTAAAACTAAGTACCATGTCTATAGGAGTGGGGATGGGGGGACAAGGATAAAATGATTTCTCTGATACCCTTTCAATTCCTTTTAATAAAAAGTTCAATGTATTAATGTTACTCTTGTATTTGTGAACATTTTCAGTTTCTAAAAAGTAAGGACAATGAAAACTCCACTCACCTGATTCTGTATTATATATTCTGTTAAGTAGAATAAAAGACTAAAGATAACAATAAAATGTCCCCTTGAATGTACAAAGCAAATACTAACTATAGGAAAAAGGACTGATCAGAGGTCATCTTACATGACCATATTGTATCAGACCTCCTTCTGGAACCAGGCCACAACAACATAACTCAAAGTGCTAAGTCCTACTTCAAGATCTTAGCCTAGAAATTGTATACACACCCACAATCAGCTCATTTCCAGCCTTCAGGTGGAAGAAATGGCTTACTGCAGAAGGCTAAAGTGACAAGATAAAGAAAATAAAAAGCTATGATATACATTAAGCATCTTTTACTCTGTGTAAGGAATTCCTGGAGATTGTGATTTTATTGCTAGCTAAATTTTAGTATCATGGGTTTGGATATGAGGAACCAATATAACTAACATCTAGTCACTCTATCTCTTAAGGGAAGAAGAACAATCCCAACTGAACTACACAGCAGTTCTAGATCTCCATCCTCTCTGACAAACTCTACAACCTAGGAATCCAGAGGGAAGGGCAAAGAGCTGAAGAAAAGGTGGCCAAACAAAATTTACCTTATCACAAACTAGAAGCTGGGAGAATGGAGCAGTGTTTACTTACTGTTGGATTCAGAGTAATGTGTGGTGCCAAGCCCGCAAGGGAATAGACATTGATGTCGTGGTAGCTGTACTGTGGCTGTGGTGGAACCGTGGCTGTACAAGTGGTGTTGGTAGCTGGTGTAGTAGAAGTTGCTAAATGTCAAGTAATAAAAAGAGATTTAAAAAGTACATTTGTTGACTTTATTATAAAATTAGCTTAATATCATTAAGTGGTCATTATCTAATTAAACGAATTAAATTGGGAGAGGAGGGAAGGATGTAGCAGGTCCTATTTTTCCCACCCTGAAAGGGAAATTC
Task1_train_22767
The gene CNOT1 (CCR4-NOT transcription complex subunit 1), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Neurodevelopmental delay
ACTGTTTTGAAAGTGGAAAGTCTGCATGTGGGTAAGCTCAGGGACACAAGAGTCATTACAACATATAACAGCATGATTAAGCATGCACGCACACACAAATGCAGTTCAGAAGAGGGCTTCTCATTTCCCTGAATCCTGCTAAGAGTCACCTCATTTATAAATTAACTGAGAGTTTCTCTTGGAAAATGCCTCACATGGGACGATGCCAGTGCAATTCTCCCTTGAAGCTGGTAAATATTATCAGATTTCTCACTGTCTCACTGGGAACAATAAGCAACCATTAATGTGAGAAGCCCAAGTTGGGAAACATGAAAACTAGCAGGCACATGAACTCCTTAGAGTAATAACACTTCAACAACTCTGGAGGAGCAAGGGAATTTAGAGCTATTTCCATACCTCCTCCACAGGCAGCCATTCAGTGAAATGCTATCAAGTTAAGATGTTTTCTCATAAACAATATTTAACCCTGCTGTCCTAATTCCAGTAAGGAGTTCAATCAACAACAACATTAAAAATAAAACAAAGATGGGACGGGGAAAGACAGAGCCCCAATTCTCACTTTCAGCCTGATTTGCTCTGGCATCCGTTCAGCTTGATATGTTAAAACAACAGGATCACAGTATCTGCGTCCTTCTTGCCTAGCATGTTTTCTCAGCTCAAATTCCTGCAAACAAAAAAAGTCACTGAGGTTCTTGTTATAAGGCACTTCCCTAAATTAAAAAAGAAAATCTTAAAAGGCAAATTCTAAACACTTACAGTTGCTAATCTCTTGTCCATCTCAGGGCCTGCTTTTTCTACTGCAGTCTTCTGAATAAAACAGCAAGCCAACTCACAATTGTCCTGAGCTAATTGAGCAGCTGCCTGATCCATCATTTCTCTTTGTTGTGGGGAAGCAGTCTATTAATGGAGGTGGGTGGGGGGGTGGGGGGAATAGAAGGAAAAAGACTTGAAAGTTGATGTGGACAGACAGGATAGTAGAAAATGCAGTGCATTTGGCAAATGCATTTTAAGTTCTGACTCTACTTATGAACAAGCTGTGATCTTGAAACAGTCTTAACAGCTTCCTCACTTTTAAGACAAAAATATCCTAGACACCTTATCAGTTTATTGTGAACATGCCTTAAAATCAGTAAAGCAGGCCAGACGCGGTGGCTCACACCTCTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACATGGTGAAGCCACTTCTCTACTAAAAAAATACATAAATTAGTGGGGCGTGGTAGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCACGAGAATCAGTTGAACCTCAGAGGTGGAGGATGCAGTGAGCCAAGACTGCACCACTGTACTCTAGCCTAAGCTACAGAGTGAGACCCTGTCTCATGAAACATTAAAAAAAAGGCAAAAAACAACCAAAAAAAATCATTAAAGCAGTAAACAAATTATTAATCATGATACCTGAATTATTAACCATGATATCTGAGACTCAAAACTAGTAAGTGAATTATTTGAAAAGTGTGTGCACATGCAACATCACTTTAAGTCATTTTGTATCGGCCTTCTCAAACAGCTTTCATCCTTCCTGGTTAACAGAAATGAGATTGTCAGATATCACATTTCCTTTTTAAATCTTAATTTATTTAAACCAACAAATATTTGGGTATCTACTATCTGTCAAACATCGTGTTGAGAATATAACAGAAAAAAAAAAAAACACACAGACATGATGCTTTGCCTCACAGAATTACAATCTAAAATGATGGAAGACATCAAACAAATATGGTGATTATTAAGAATAAGTGGTAACGCCCAGTGCCATATATAGACAAAGAAAAAAATTATTACAGACAAGCAGTAATACGTTTTGTACCTATACCAAGGAAATAGCCAACTTACACGAAGGGCTGAGGCAAAACTGTTTTTTAAGTTGGTAGATATGCTCATGAGCAAAGGTTCCCTGCATGTAATCATAGCCATTCCAGCTGTCAAGTTACGCATCATGTGATGAGCTGCTATTCGCATTCGAGATTCCTCCGAATCCAGGGCAAAATCCTTCCTGACTATTTGCTCACAAGTAGTCATGGCAATCTTAATTGATCGATCCACCACAGGATGGACCAGCTCCTGGACAGCCCGTTCAATTGCCTGACGCACACACTGCTTCAACTGTGGATGGGCCTGAAACAAGGGAATCTGGGGGGTTGGGGAGGACAAAGTCAACACCTTGTTTAAATAAGACAATCCAATTCCTACTGGCAATCACATTCATGATTTTGTAAATCAAGATTAACCAAAAACTACCAGTTTCTACTTAAAGTTAACCAATGGAAAATTCGGGTAACAGAAACTGAGCTCCATACAGGGAAATGTATTCAGTATACCCTGTGATACACAATAATAGATATGTCTTTTTTTTAAATCCAAGTTTAATGGACAAACTGTTCATTACAATATGCATTAACTACTTAAAGACACACTGCTGGCTTATTTAAAATTTGTGGCTCAAGTGCTCTTAAAAGAAAGCAACTTCTCCACTAGCTTGGGAAAATGTAAAAAGAATAAAGTTTATAGAAAAAAGACTTCTTACAAAAACTATTAAAATTAATTCATCAGAATAGTGAGCATTTTACAGTGCCCACTGAAGTATTTGGCTTCATTTGAAAGGCTGTTTCTAATCTTTTATTGCAGGTGTAAATTATGCCCCAAAACTTACTTGGTCCCTTTAACTTGTTGAATTAAAAAAAAAAAAAATTAAACTAGCATATAATAGTGTTCACAACACTAAGAGTATTCTAAAGATGAATCACAATTTCTGGATCTAGGTGTCCCACTGCCTCTCACTCCACCCCTCTAAAACTAAGTACCATGTCTATAGGAGTGGGGATGGGGGGACAAGGATAAAATGATTTCTCTGATACCCTTTCAATTCCTTTTAATAAAAAGTTCAATGTATTAATGTTACTCTTGTATTTGTGAACATTTTCAGTTTCTAAAAAGTAAGGACAATGAAAACTCCACTCACCTGATTCTGTATTATATATTCTGTTAAGTAGAATAAAAGACTAAAGATAACAATAAAATGTCCCCTTGAATGTACAAAGCAAATACTAACTATAGGAAAAAGGACTGATCAGAGGTCATCTTACATGACCATATTGTATCAGACCTCCTTCTGGAACCAGGCCACAACAACATAACTCAAAGTGCTAAGTCCTACTTCAAGATCTTAGCCTAGAAATTGTATACACACCCACAATCAGCTCATTTCCAGCCTTCAGGTGGAAGAAATGGCTTACTGCAGAAGGCTAAAGTGACAAGATAAAGAAAATAAAAAGCTATGATATACATTAAGCATCTTTTACTCTGTGTAAGGAATTCCTGGAGATTGTGATTTTATTGCTAGCTAAATTTTAGTATCATGGGTTTGGATATGAGGAACCAATATAACTAACATCTAGTCACTCTATCTCTTAAGGGAAGAAGAACAATCCCAACTGAACTACACAGCAGTTCTAGATCTCCATCCTCTCTGACAAACTCTACAACCTAGGAATCCAGAGGGAAGGGCAAAGAGCTGAAGAAAAGGTGGCCAAACAAAATTTACCTTATCACAAACTAGAAGCTGGGAGAATGGAGCAGTGTTTACTTACTGTTGGATTCAGAGTAATGTGTGGTGCCAAGCCCGCAAGGGAATAGACATTGATGTCGTGGTAGCTGTACTGTGGCTGTGGTGGAACCGTGGCTGTACAAGTGGTGTTGGTAGCTGGTGTAGTAGAAGTTGCTAAATGTCAAGTAATAAAAAGAGATTTAAAAAGTACATTTGTTGACTTTATTATAAAATTAGCTTAATATCATTAAGTGGTCATTATCTAATTAAACGAATTAAATTGGGAGAGGAGGGAAGGATGTAGCAGGTCCTATTTTTCCCACCCTGAAAGGGAAATTCTGTTGTTATAACAGAGATATACACGAAGTATGTTAAACTATGTCAGTGCCAGTGCCCCACAGCACAGAAATCAACTGAGCAGCCATGCCATATTGTCAGGCCCAAGTCCTA
ACTGTTTTGAAAGTGGAAAGTCTGCATGTGGGTAAGCTCAGGGACACAAGAGTCATTACAACATATAACAGCATGATTAAGCATGCACGCACACACAAATGCAGTTCAGAAGAGGGCTTCTCATTTCCCTGAATCCTGCTAAGAGTCACCTCATTTATAAATTAACTGAGAGTTTCTCTTGGAAAATGCCTCACATGGGACGATGCCAGTGCAATTCTCCCTTGAAGCTGGTAAATATTATCAGATTTCTCACTGTCTCACTGGGAACAATAAGCAACCATTAATGTGAGAAGCCCAAGTTGGGAAACATGAAAACTAGCAGGCACATGAACTCCTTAGAGTAATAACACTTCAACAACTCTGGAGGAGCAAGGGAATTTAGAGCTATTTCCATACCTCCTCCACAGGCAGCCATTCAGTGAAATGCTATCAAGTTAAGATGTTTTCTCATAAACAATATTTAACCCTGCTGTCCTAATTCCAGTAAGGAGTTCAATCAACAACAACATTAAAAATAAAACAAAGATGGGACGGGGAAAGACAGAGCCCCAATTCTCACTTTCAGCCTGATTTGCTCTGGCATCCGTTCAGCTTGATATGTTAAAACAACAGGATCACAGTATCTGCGTCCTTCTTGCCTAGCATGTTTTCTCAGCTCAAATTCCTGCAAACAAAAAAAGTCACTGAGGTTCTTGTTATAAGGCACTTCCCTAAATTAAAAAAGAAAATCTTAAAAGGCAAATTCTAAACACTTACAGTTGCTAATCTCTTGTCCATCTCAGGGCCTGCTTTTTCTACTGCAGTCTTCTGAATAAAACAGCAAGCCAACTCACAATTGTCCTGAGCTAATTGAGCAGCTGCCTGATCCATCATTTCTCTTTGTTGTGGGGAAGCAGTCTATTAATGGAGGTGGGTGGGGGGGTGGGGGGAATAGAAGGAAAAAGACTTGAAAGTTGATGTGGACAGACAGGATAGTAGAAAATGCAGTGCATTTGGCAAATGCATTTTAAGTTCTGACTCTACTTATGAACAAGCTGTGATCTTGAAACAGTCTTAACAGCTTCCTCACTTTTAAGACAAAAATATCCTAGACACCTTATCAGTTTATTGTGAACATGCCTTAAAATCAGTAAAGCAGGCCAGACGCGGTGGCTCACACCTCTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACATGGTGAAGCCACTTCTCTACTAAAAAAATACATAAATTAGTGGGGCGTGGTAGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCACGAGAATCAGTTGAACCTCAGAGGTGGAGGATGCAGTGAGCCAAGACTGCACCACTGTACTCTAGCCTAAGCTACAGAGTGAGACCCTGTCTCATGAAACATTAAAAAAAAGGCAAAAAACAACCAAAAAAAATCATTAAAGCAGTAAACAAATTATTAATCATGATACCTGAATTATTAACCATGATATCTGAGACTCAAAACTAGTAAGTGAATTATTTGAAAAGTGTGTGCACATGCAACATCACTTTAAGTCATTTTGTATCGGCCTTCTCAAACAGCTTTCATCCTTCCTGGTTAACAGAAATGAGATTGTCAGATATCACATTTCCTTTTTAAATCTTAATTTATTTAAACCAACAAATATTTGGGTATCTACTATCTGTCAAACATCGTGTTGAGAATATAACAGAAAAAAAAAAAAACACACAGACATGATGCTTTGCCTCACAGAATTACAATCTAAAATGATGGAAGACATCAAACAAATATGGTGATTATTAAGAATAAGTGGTAACGCCCAGTGCCATATATAGACAAAGAAAAAAATTATTACAGACAAGCAGTAATACGTTTTGTACCTATACCAAGGAAATAGCCAACTTACACGAAGGGCTGAGGCAAAACTGTTTTTTAAGTTGGTAGATATGCTCATGAGCAAAGGTTCCCTGCATGTAATCATAGCCATTCCAGCTGTCAAGTTACGCATCATGTGATGAGTTGCTATTCGCATTCGAGATTCCTCCGAATCCAGGGCAAAATCCTTCCTGACTATTTGCTCACAAGTAGTCATGGCAATCTTAATTGATCGATCCACCACAGGATGGACCAGCTCCTGGACAGCCCGTTCAATTGCCTGACGCACACACTGCTTCAACTGTGGATGGGCCTGAAACAAGGGAATCTGGGGGGTTGGGGAGGACAAAGTCAACACCTTGTTTAAATAAGACAATCCAATTCCTACTGGCAATCACATTCATGATTTTGTAAATCAAGATTAACCAAAAACTACCAGTTTCTACTTAAAGTTAACCAATGGAAAATTCGGGTAACAGAAACTGAGCTCCATACAGGGAAATGTATTCAGTATACCCTGTGATACACAATAATAGATATGTCTTTTTTTTAAATCCAAGTTTAATGGACAAACTGTTCATTACAATATGCATTAACTACTTAAAGACACACTGCTGGCTTATTTAAAATTTGTGGCTCAAGTGCTCTTAAAAGAAAGCAACTTCTCCACTAGCTTGGGAAAATGTAAAAAGAATAAAGTTTATAGAAAAAAGACTTCTTACAAAAACTATTAAAATTAATTCATCAGAATAGTGAGCATTTTACAGTGCCCACTGAAGTATTTGGCTTCATTTGAAAGGCTGTTTCTAATCTTTTATTGCAGGTGTAAATTATGCCCCAAAACTTACTTGGTCCCTTTAACTTGTTGAATTAAAAAAAAAAAAAATTAAACTAGCATATAATAGTGTTCACAACACTAAGAGTATTCTAAAGATGAATCACAATTTCTGGATCTAGGTGTCCCACTGCCTCTCACTCCACCCCTCTAAAACTAAGTACCATGTCTATAGGAGTGGGGATGGGGGGACAAGGATAAAATGATTTCTCTGATACCCTTTCAATTCCTTTTAATAAAAAGTTCAATGTATTAATGTTACTCTTGTATTTGTGAACATTTTCAGTTTCTAAAAAGTAAGGACAATGAAAACTCCACTCACCTGATTCTGTATTATATATTCTGTTAAGTAGAATAAAAGACTAAAGATAACAATAAAATGTCCCCTTGAATGTACAAAGCAAATACTAACTATAGGAAAAAGGACTGATCAGAGGTCATCTTACATGACCATATTGTATCAGACCTCCTTCTGGAACCAGGCCACAACAACATAACTCAAAGTGCTAAGTCCTACTTCAAGATCTTAGCCTAGAAATTGTATACACACCCACAATCAGCTCATTTCCAGCCTTCAGGTGGAAGAAATGGCTTACTGCAGAAGGCTAAAGTGACAAGATAAAGAAAATAAAAAGCTATGATATACATTAAGCATCTTTTACTCTGTGTAAGGAATTCCTGGAGATTGTGATTTTATTGCTAGCTAAATTTTAGTATCATGGGTTTGGATATGAGGAACCAATATAACTAACATCTAGTCACTCTATCTCTTAAGGGAAGAAGAACAATCCCAACTGAACTACACAGCAGTTCTAGATCTCCATCCTCTCTGACAAACTCTACAACCTAGGAATCCAGAGGGAAGGGCAAAGAGCTGAAGAAAAGGTGGCCAAACAAAATTTACCTTATCACAAACTAGAAGCTGGGAGAATGGAGCAGTGTTTACTTACTGTTGGATTCAGAGTAATGTGTGGTGCCAAGCCCGCAAGGGAATAGACATTGATGTCGTGGTAGCTGTACTGTGGCTGTGGTGGAACCGTGGCTGTACAAGTGGTGTTGGTAGCTGGTGTAGTAGAAGTTGCTAAATGTCAAGTAATAAAAAGAGATTTAAAAAGTACATTTGTTGACTTTATTATAAAATTAGCTTAATATCATTAAGTGGTCATTATCTAATTAAACGAATTAAATTGGGAGAGGAGGGAAGGATGTAGCAGGTCCTATTTTTCCCACCCTGAAAGGGAAATTCTGTTGTTATAACAGAGATATACACGAAGTATGTTAAACTATGTCAGTGCCAGTGCCCCACAGCACAGAAATCAACTGAGCAGCCATGCCATATTGTCAGGCCCAAGTCCTA
Task1_train_22768
The gene CNOT1 (CCR4-NOT transcription complex subunit 1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Neurodevelopmental delay
AAATTGGGAGAGGAGGGAAGGATGTAGCAGGTCCTATTTTTCCCACCCTGAAAGGGAAATTCTGTTGTTATAACAGAGATATACACGAAGTATGTTAAACTATGTCAGTGCCAGTGCCCCACAGCACAGAAATCAACTGAGCAGCCATGCCATATTGTCAGGCCCAAGTCCTATAAACTTAGTCTATATTATAAATGTATGTTTTCAACCTAGCCTGTTCCTAGGTTTATCTGGGGATTCTCAGCTGCTGAGGACTGAGAAAGAAAGAAAAGCTCAATTTATTCTAACCACAACTCCCAATCATTCAACACTCCCATACCCTTCTCCCATCTTCTTCATGTAGATAAAACAGTCCCATTCCCTTGGCAGATCTAGCAGGTCTGGCCATACCCAGATTTGAGGGGTTAACAGGCCATCATAGTATGCAGTTATTTCTGGGACTTCACACAACAAAGGAGATAACCTGGCCTAGCTGGGGTATGAGAGGCAACTGATTAAATCACATTTAGTTAATAATATGCATGAACTGTCAGGATGGAATCTAAGATGGTAACACAAGGCCTAGTCATTACTTCTGCTTGATAATTAGAAGGCTCACCAAAACGTATACAAAGTTTCACCACTACATTATGTGGGAAATTATAGTTTGCGATATACATGGACAAGTACCATTTAAGATAGTATCCTAGCTAACAGAAGCCTTCCTTGACTAATTAGCACACTTACTTGTGGTTGTGATGGGAGGGAGTTCTTCTGGCTGCTTGACATCTTTCTTTGGAGCAGAGAGTTGCTCATCTAAATTCTTCAGGCGATCTTTATCCTTTAGGAGGTTTCCAGGTTTTAGCTCATTGATGTCTAATGCAAGGTTCTTGCAGAGAACCTCGATTTCAAACTTCAAGTTTAACTGCACAGTTCCAGAGTTGGATTAGAATTTTTAAAAGAAAACTTTAGTTTTACTCATAATATACTCTACTTTCAGTTATTATAGTACTTCCCCCGAAATACCCTGCCTTCACTGTAAGTTTTAATAATGTGAAGGCAAAGAATGTTCCAGAGGACAAGGAAGCAGTAAATTACCTTTAAGTCATGCTCCTGATGTAGCTCAGCTAATACATTCATAATTGCCATTGTCCAAGGGTTTGGTGGCCTAAAAACCTAAAGAAAAGCTATTATGTTAAGCTGGCCCAAAATGTGCCCTTTAATTTGGATTATTTAAAACAATTCAATACAACATAAGGGGGTAGGGGGGAGTCAAACAAATAAAAAACAAAAAACAAGGATTAAAAAATAACCAAAAACAGTTAAACATAGTTAAACACTTATACCTCTGTAGCCATAACAAAACCCCTAGCCTTCTCACCTATATCACATTTCAAAAACAAAACAAAACAAAAAACCAAAAACCAAAGCCAACCATTATAATCTTTCTTATTTCACCCAGCCTCTCAAATTGGAAATCCAAGTGCCATAGAGGAAAACAGACTTAACTAGCTTTACCTCACAAGAACTAAGAATATAATCTCTTGACCTCATGCTAAAACAAAGCAATGCTTAGAAATTAGTCATAAATAAAATATTAAAATCTACTCACCACACTACGAATGCTAGATTCTAAGACTTTGGCAACAAAGGGCACTACATAGAGCAATTCTTGTTGTCCTTTAACATAAGCCTCTAGCAGCAATGATTTCACATCCAAGTCCTAGAATAAGAAAAATACTTTCAAAAGCGGGGAATATACCCCCCAAAATGGTATAACAAAACCAAAGAAAAGTATTTTGCCAAGCTTATCCCCAAAACAGGAATCAACATAATGTCTAGTCCTTGCCTTACAAAAAGGGGTTAACAACTCAAAACGTGGGCCAAAATCTTACAAAACCCCAATAATCATTAAATAGCTCCAAACAGCCAATACTTGTAATCATAATGTGCTGAAGATTCTCAATTTTTACACATTTAGATGAAACTCACAGTGTGTAAGATGGGTTTGTTTTTAGCTAATGTGATCATTCCTAGCCAATGTCCCAAGTTCTTCAGCAAAGAACGATCTGAGAAATTGGCTGCAGCTTTATCAGAGGTCAGGAGCACCTGAAATAGTGTAAGATTAAGAAAGATATGAGAATAAGCTTATGAAAGAAAACTCAACTAAGTATTTGAGAATTCCATTATCCTATCCTAAAGACAAGTCATCATTTCTAAGAACAGGCCCCAAAGTAGAATTACTCTGTATATCATTCTCAATATCATTTTGCTGTGTTTATGATTCAACAGTGCTATTTTTACCTTGAAGAAGTCTTTACATTTTATTTTTTCAAAATAGGTACAAACACATTGCACAAAATTCAAAAAGAACACAAAGTTATGTGCCAGCTATCCTCCCCTAGAAAAGTATTTTCAACTCTGAAAACCTTAGCTAGGTTTAAAGCAGAGACCTAACTACAAAGCTATTTTGAAGTGCTAAATTAATTTAAATGAGGATGATAGCCATGCTTAAGTCCTTAAAGGCAGCAAGCATACAAAGGAATATAATCAAATTAGCCTCCTATTGCAATCTTCAGTATACCCAGGTCATTAACAAATCTCTGCAGCCAACCAAGATAACTTTCTGAGATATAGTATAATACTGTTTATATACTTCTTTTCAAATTTCTAAAAAACCCAAACCATTTAACTGATTCTCCGGTTACTGTTTTTCTAAGGGGGGGCAGAACTAACATAGGAGAGTGTTTTGGCTGCAGGTATGCACACATGTATATACCCATCTACTCTGTGGTACCTCTTGACTTAGGGCTATATTTAAACTTCTGTTTAAAAAACATGGTCTTGAAACTTTGCTACAGAGTATGTGGAAACTTTTATGTATCCCAACCACCCTTGCTATCAGATAATAAAAACGAAATAGAGCCATGTTCCTTAACTCTATACAGCAACAGCAGAATGGCACAAGTCAGCTGTGCAACAGAGAGCCAGGAATTCTTTTGCACTACAGCGTAACCAAGAATGGGGAATATTCCCATCCACAGGTTTAAATATAGTGCTGGTTCCTAAGCCAATGACCCAAGTTATTGAGCAAAGAATGACCACAGCTGTATGCTGGTTCTAGAAGTTTTTCCTCCTAAGAAATAAATGATGGTTTAGAAATTAAAATACTTGAATTTTGTTGAATAAGCCTCAGCTCAGTAGAATTTGACCTTAAACTGCACAGACTCCTAGACAACAGCTATTCCACAAACAGATTTAGAGTCTAAAGATATCTTGCACTTGAATACTACAAGATACAAACGAAAACATTCAGGACAGCATTGTTTATAATAGTTTAAGTGATTAACAACACAAATGCCCAGCAGCAATACAAATACATACAATGGTTTTCTACAAGACTATATTTTTCTGTTTTTTAAAAAAGAGGACTGGCCGGGCACAGTGGCTCAGGCCTGTAATCCCAGAACTCTGGGAGGCCGAGGAGGGTGGATCACCTAAGGTCAGGAGTTCGGGACCAGCCTGGCCAATATGATTAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGCGGTACAACTATAATCCCAGCTACTCGGGAGGCTGAAGTAAGAGAACTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTAAGCAACAGAGTGAGACCACATCTCAAAAAAATTGAAAAAAAAAAAAAAAGGGGGCTACAGCAAAGAGCATTATCATTATCATGAATAATATCCAGGGGAGAAAAAAAAGTAAGTGAAAAAAAAAGAAAAGGATGTACAGAGGGCGACACCATACAGAATATGCTAACCAATACTATGCTGCTTATGTATAACAGTGGTAAAGTTCTAAAATCATGCATGGCATGACAAAAACAATTCATAATAGTGGTTACTTTCAAAGAAAAGGCACAGGGTATGCCTATAAATTTAAGTTCTGCATAAAATTTAGTTCCATATAAGAAACAAAATCTACAGCAATTTCCAGAGGTACCTAATATTGACAATATATATGGAAAAATAGCAAAAATCCTACCTATATAATCAAATATTTCCAAATTCAAAGCAATAAT
AAATTGGGAGAGGAGGGAAGGATGTAGCAGGTCCTATTTTTCCCACCCTGAAAGGGAAATTCTGTTGTTATAACAGAGATATACACGAAGTATGTTAAACTATGTCAGTGCCAGTGCCCCACAGCACAGAAATCAACTGAGCAGCCATGCCATATTGTCAGGCCCAAGTCCTATAAACTTAGTCTATATTATAAATGTATGTTTTCAACCTAGCCTGTTCCTAGGTTTATCTGGGGATTCTCAGCTGCTGAGGACTGAGAAAGAAAGAAAAGCTCAATTTATTCTAACCACAACTCCCAATCATTCAACACTCCCATACCCTTCTCCCATCTTCTTCATGTAGATAAAACAGTCCCATTCCCTTGGCAGATCTAGCAGGTCTGGCCATACCCAGATTTGAGGGGTTAACAGGCCATCATAGTATGCAGTTATTTCTGGGACTTCACACAACAAAGGAGATAACCTGGCCTAGCTGGGGTATGAGAGGCAACTGATTAAATCACATTTAGTTAATAATATGCATGAACTGTCAGGATGGAATCTAAGATGGTAACACAAGGCCTAGTCATTACTTCTGCTTGATAATTAGAAGGCTCACCAAAACGTATACAAAGTTTCACCACTACATTATGTGGGAAATTATAGTTTGCGATATACATGGACAAGTACCATTTAAGATAGTATCCTAGCTAACAGAAGCCTTCCTTGACTAATTAGCACACTTACTTGTGGTTGTGATGGGAGGGAGTTCTTCTGGCTGCTTGACATCTTTCTTTGGAGCAGAGAGTTGCTCATCTAAATTCTTCAGGCGATCTTTATCCTTTAGGAGGTTTCCAGGTTTTAGCTCATTGATGTCTAATGCAAGGTTCTTGCAGAGAACCTCGATTTCAAACTTCAAGTTTAACTGCACAGTTCCAGAGTTGGATTAGAATTTTTAAAAGAAAACTTTAGTTTTACTCATAATATACTCTACTTTCAGTTATTATAGTACTTCCCCCGAAATACCCTGCCTTCACTGTAAGTTTTAATAATGTGAAGGCAAAGAATGTTCCAGAGGACAAGGAAGCAGTAAATTACCTTTAAGTCATGCTCCTGATGTAGCTCAGCTAATACATTCATAATTGCCATTGTCCAAGGGTTTGGTGGCCTAAAAACCTAAAGAAAAGCTATTATGTTAAGCTGGCCCAAAATGTGCCCTTTAATTTGGATTATTTAAAACAATTCAATACAACATAAGGGGGTAGGGGGGAGTCAAACAAATAAAAAACAAAAAACAAGGATTAAAAAATAACCAAAAACAGTTAAACATAGTTAAACACTTATACCTCTGTAGCCATAACAAAACCCCTAGCCTTCTCACCTATATCACATTTCAAAAACAAAACAAAACAAAAAACCAAAAACCAAAGCCAACCATTATAATCTTTCTTATTTCACCCAGCCTCTCAAATTGGAAATCCAAGTGCCATAGAGGAAAACAGACTTAACTAGCTTTACCTCACAAGAACTAAGAATATAATCTCTTGACCTCATGCTAAAACAAAGCAATGCTTAGAAATTAGTCATAAATAAAATATTAAAATCTACTCACCACACTACGAATGCTAGATTCTAAGACTTTGGCAACAAAGGGCACTACATAGAGCAATTCTTGTTGTCCTTTAACATAAGCCTCTAGCAGCAATGATTTCACATCCAAGTCCTAGAATAAGAAAAATACTTTCAAAAGCGGGGAATATACCCCCCAAAATGGTATAACAAAACCAAAGAAAAGTATTTTGCCAAGCTTATCCCCAAAACAGGAATCAACATAATGTCTAGTCCTTGCCTTACAAAAAGGGGTTAACAACTCAAAACGTGGGCCAAAATCTTACAAAACCCCAATAATCATTAAATAGCTCCAAACAGCCAATACTTGTAATCATAATGTGCTGAAGATTCTCAATTTTTACACATTTAGATGAAACTCACAGTGTGTAAGATGGGTTTGTTTTTAGCTAATGTGATCATTCCTAGCCAATGTCCCAAGTTCTTCAGCAAAGAACGATATGAGAAATTGGCTGCAGCTTTATCAGAGGTCAGGAGCACCTGAAATAGTGTAAGATTAAGAAAGATATGAGAATAAGCTTATGAAAGAAAACTCAACTAAGTATTTGAGAATTCCATTATCCTATCCTAAAGACAAGTCATCATTTCTAAGAACAGGCCCCAAAGTAGAATTACTCTGTATATCATTCTCAATATCATTTTGCTGTGTTTATGATTCAACAGTGCTATTTTTACCTTGAAGAAGTCTTTACATTTTATTTTTTCAAAATAGGTACAAACACATTGCACAAAATTCAAAAAGAACACAAAGTTATGTGCCAGCTATCCTCCCCTAGAAAAGTATTTTCAACTCTGAAAACCTTAGCTAGGTTTAAAGCAGAGACCTAACTACAAAGCTATTTTGAAGTGCTAAATTAATTTAAATGAGGATGATAGCCATGCTTAAGTCCTTAAAGGCAGCAAGCATACAAAGGAATATAATCAAATTAGCCTCCTATTGCAATCTTCAGTATACCCAGGTCATTAACAAATCTCTGCAGCCAACCAAGATAACTTTCTGAGATATAGTATAATACTGTTTATATACTTCTTTTCAAATTTCTAAAAAACCCAAACCATTTAACTGATTCTCCGGTTACTGTTTTTCTAAGGGGGGGCAGAACTAACATAGGAGAGTGTTTTGGCTGCAGGTATGCACACATGTATATACCCATCTACTCTGTGGTACCTCTTGACTTAGGGCTATATTTAAACTTCTGTTTAAAAAACATGGTCTTGAAACTTTGCTACAGAGTATGTGGAAACTTTTATGTATCCCAACCACCCTTGCTATCAGATAATAAAAACGAAATAGAGCCATGTTCCTTAACTCTATACAGCAACAGCAGAATGGCACAAGTCAGCTGTGCAACAGAGAGCCAGGAATTCTTTTGCACTACAGCGTAACCAAGAATGGGGAATATTCCCATCCACAGGTTTAAATATAGTGCTGGTTCCTAAGCCAATGACCCAAGTTATTGAGCAAAGAATGACCACAGCTGTATGCTGGTTCTAGAAGTTTTTCCTCCTAAGAAATAAATGATGGTTTAGAAATTAAAATACTTGAATTTTGTTGAATAAGCCTCAGCTCAGTAGAATTTGACCTTAAACTGCACAGACTCCTAGACAACAGCTATTCCACAAACAGATTTAGAGTCTAAAGATATCTTGCACTTGAATACTACAAGATACAAACGAAAACATTCAGGACAGCATTGTTTATAATAGTTTAAGTGATTAACAACACAAATGCCCAGCAGCAATACAAATACATACAATGGTTTTCTACAAGACTATATTTTTCTGTTTTTTAAAAAAGAGGACTGGCCGGGCACAGTGGCTCAGGCCTGTAATCCCAGAACTCTGGGAGGCCGAGGAGGGTGGATCACCTAAGGTCAGGAGTTCGGGACCAGCCTGGCCAATATGATTAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGCGGTACAACTATAATCCCAGCTACTCGGGAGGCTGAAGTAAGAGAACTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTAAGCAACAGAGTGAGACCACATCTCAAAAAAATTGAAAAAAAAAAAAAAAGGGGGCTACAGCAAAGAGCATTATCATTATCATGAATAATATCCAGGGGAGAAAAAAAAGTAAGTGAAAAAAAAAGAAAAGGATGTACAGAGGGCGACACCATACAGAATATGCTAACCAATACTATGCTGCTTATGTATAACAGTGGTAAAGTTCTAAAATCATGCATGGCATGACAAAAACAATTCATAATAGTGGTTACTTTCAAAGAAAAGGCACAGGGTATGCCTATAAATTTAAGTTCTGCATAAAATTTAGTTCCATATAAGAAACAAAATCTACAGCAATTTCCAGAGGTACCTAATATTGACAATATATATGGAAAAATAGCAAAAATCCTACCTATATAATCAAATATTTCCAAATTCAAAGCAATAAT
Task1_train_22769
Here is a genetic alteration in CNOT1 (CCR4-NOT transcription complex subunit 1) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Vissers-Bodmer syndrome
ACTCAAAAATTTCAGATTTTTATACACAAGATTCCCACTCCAATTCCCTTTTAGCATCAGGCAGGGTGTCTGTACTTTATCTAAGATAAAGATTCTCTTAGTAAAACTGTTTATTCTTCAACTGCATTACAGGTTAAAAGAATGAGTAAAAAGTTTTTGAGGTAAGCCTGCTACTTAGAAAAGATAATCCAAGAATGATTATTTTTTCATGTTCTCTTGTAAGGCCACAAAATGAGCAACCTCAACAAAAGATATGTGTACCTATATCATGCCAATCATTAAGAAATCTTAATGCCATTACTATCAAGTCTACAAAAAAAAGCCAAAATATTAAACCCTCCAAATACTACATAGCTATTTGGGTTTTAGTTACAGAGGGCACTTACCTCCTGTAAATGATGTGGAAATTGCATAAAGTGACTGATAGAAGCCAAATGCTGACAATACTGGGGATAGTCCTTCAATCTGCCAACAAAATTATTCTACCATCATTTCATGTCAGAACAGAAGCATCACTAACAAAATGTTTTTGTCCAAATGCTAATCTAGGTCATTTTTTTCCATCTTACCTATGAATAACTTATTTGAAGAAAATGTCAAAGTGAAGAAAACAAAAATAGAAGGAGAAAATACTTATGATTTTCACAGGATTTACATCAGAAAATACACTACCTCTGATTTTTAAAGGCTATATTTTACTTAAAAATAGATTAAAACGAGCCACTTCTCTGGAAACAATTCAAATTTTCACCAACATACGAATGGAAAAATAATTTGTAGTCAACTCATATAGTAGAATACTACACAGCTGTAAAAAAAAAAACAGACTACTGAAACGTAGTAACGTAAGTCTCAAAAAACTACATATTTGTATGACTCTGTGTAAATGGCATTCTAGAAAAACTTTAGAGATTATCAGAGATTGGAAGTCAGGGAAGGGGACTAACTACAAAGGGGAACAAGGAAACCTCTTGGGAGATAATGAAAATATTCTGCATCAGCCAGGCATGGTAGTTTATGCCTATAATCCCATCACTGTGGGAGGCAGGAAGATCACTTGAGGCCAGGAGTTCCAAAATATTCTGTATCTTGATTGTGGTGGTAGTTACACAACTGTATAAATTTGTCAAAATTCAAAGAACTATACACCTAAAGGGAAGACTTCTACTGTACGAAGTATACCTCATAAATAACCAACCAAAAAACCTCTGTTCTCATTTTAGTTTTCCTACCACTTATATTAAAAAAGAGAGGCTTTGGCTGGGCCCAGTGGCTCACACCTATAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGGATCACCCGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGGAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGCAGTGGCACGCGTCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGGTGCAGTGGGCCCAGATTGCACCACTGCACTCTAGCCTGGGGGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCTTCAGGCCAGGCACAGTGGCTCACACCAATAATCCCAGCACTTTCAGAGGCCAAGGTGGGAGTTTGAGACCATGGTGAAACCCTGTCTGTACAAAAATTACAAAAGGCTGGGAATGGTGGTATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGAATCACTTGAGCCCGCAAGGTCAAGGCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGATGAGAGTTAAGACCCTGTCTGCGGGGTCAGGGAAGAGATCCTTCACAGGAAACCTATCCACTTACCTGTTTTTAAATCTATCTAGTGCAGCAATCCCGAAATAATACATTTTGGATCCAAAAGGCTTGCGTAAGGCTTCAAGAACATATCGTAGAGCCAGACCTAGTGCCATGTAAGTGACCAGTCCTTTCTCAATTATACCACCAAATAGGCAGGCTGTTATATGTAACTCTTTATCAGGATACTGGGGAAAAAAACGATATTCTTCAAACAAGTTCCTTAGCATACAGTTAAATACTTCTCGTTCCCTCTTTATAGTAGAGTCTTTAAATCTCTGCAGCATTTCTAATACCTGGAAAAGCAAGACAAAAACAACGCACACATAAAGGAAACAATTACTAAGAGCCTTTCTCAAATATGCTTAACAAAAGACTATTAAGTAGAACATTTACCAAAAGAGCTTGAGACAAATATTAAGGTTTCAAAACACAAACCGCTATATCAGGGCACTTTGAGCTGGATTTCTAAAAACATTGAAAAGGACATTTATTTAAGACTGGCCTAAACAATAAATAAGTAGATCATCCTAGACACTCACCTCATCAACAGACATGGTTGGATGTGGTGGATGATTATATATTCGCTGGAAATAGCTGTTTGCTTCATCATCTATCTCTTTACTAAAGTGCTGGTTTGCCTCTGGCCACACCTGAGACAAGTCCGCTGTTGGAAACAAAAAAGGAATCAGTGGGCATTTAAGCCCTTCCTCCACTTCCCCATAAAACACAGCCAGCCAGAGACTATTATAGCTCTAACTTCAAGGGAAATATAAAAAAACTGGAAAAGGTATTAAGCGGTCAAGTTTCAGTATTAATGTGTGCTAGGGTAGACGTAAAAGATCCTTAACAAAGTGCCTTCCATAATTCTACATTAGTATTATCTTCATCAGGACTTATTAACACAAAAGTTAACTTGGTTCAAACTCATAACGCACTTACCCTTAATACAACCTCATTAGGTTAACAAATCTTTATCACTTTATAATAAAAATCACATTTAACATATAAGAATTATCATGCATGTGCATGAAAGACTGATGTAAACACAAAGCATGCTACAAAACATAACATTCAGACAAGCCTTTCACACTAACGTTATCAAGTCAGCTGGAATACTTTCAACCTCGTGTCATGACTATGCAGTCCCAATGACAAGGACTTCAGTCAATTATACCTATGGATTTATAAAGATGACTTCTATGAGTTTAGTTAGCATAAAAAATTACTAAGGAGGTGAAACAAAAATTGGAAACAGAAATCTGAAATTGTCCTTCTCACTCCTGACTTGCTTTAAAAAAAACTCAACACATGTTTAGGTTAAGTTCAAGAGTTACATTCGTATATCTACCACATATTAATTTCTCTTTATCATACCTACTTCTTACTTTTAGGATAAACACCCTCAGGATGCAGCCTCTTATTAACCACGACTTTGTTCTGGGAAGGAGTGATACCTCTAACTTTTAATAATTCAAATTTGTGAATTTATTCCCATTGGTCTAGGAGGCACATCAACACATGGCCCTACTAACACAAATGAGACATACAACTAAACATTTTTATCAGTCACACTTCACAATCACAGACAACACTACCACTTACAAGGTTTCATCTTACTCTGCTGGAATGTAGGCTGATTCAGTCCAGAGGTGCCCAGTTTCCTCTGTACAAAAGGGTCGTTATTCACTGCAGGGAGTCCAAGAGCACCAGTTCCTATACCAGTCAGGCTGCCTGTGCCAAGACCACCTACTAGAGAGAACGAAGGCAGCCACAAATCCTATCATTATTCATATTCTTGATTTTATTCACATCTCAGATATATTAATAAGACAGACTTTTAAAATAAAGTCATAGTAACTCTTACTTTAAAAGTCAGAGTCTTTGTTAATTCCCTTATTACATCTATTCAATTTTACAGAGCCTATAAACTAGGCAGTAACGGATAATCCCCAAATTTCTTTAGCATCTGGAATTATTTATATTCTTGATAATGTGCAAAAAATTAATGTATACATTCTCAAAGCACATACTCCTATACCCAAGGTAGTTAAAATAAGGAGCTGGCTGGCTTTTCTCAATGATTCAAATCAAATAATTTCATGATACTATCTTCTAAAGTTACCATGAGTCTCAAAACTTCTTTATTCCTCTCAACTCCGACAAAAGGAATCTTACAATAATTAGAGCTTTGCTAGGAAGGCCTTAATAAGTTCAGTGACGTTTATTTAAATGAATTAATCAAAGCTA
ACTCAAAAATTTCAGATTTTTATACACAAGATTCCCACTCCAATTCCCTTTTAGCATCAGGCAGGGTGTCTGTACTTTATCTAAGATAAAGATTCTCTTAGTAAAACTGTTTATTCTTCAACTGCATTACAGGTTAAAAGAATGAGTAAAAAGTTTTTGAGGTAAGCCTGCTACTTAGAAAAGATAATCCAAGAATGATTATTTTTTCATGTTCTCTTGTAAGGCCACAAAATGAGCAACCTCAACAAAAGATATGTGTACCTATATCATGCCAATCATTAAGAAATCTTAATGCCATTACTATCAAGTCTACAAAAAAAAGCCAAAATATTAAACCCTCCAAATACTACATAGCTATTTGGGTTTTAGTTACAGAGGGCACTTACCTCCTGTAAATGATGTGGAAATTGCATAAAGTGACTGATAGAAGCCAAATGCTGACAATACTGGGGATAGTCCTTCAATCTGCCAACAAAATTATTCTACCATCATTTCATGTCAGAACAGAAGCATCACTAACAAAATGTTTTTGTCCAAATGCTAATCTAGGTCATTTTTTTCCATCTTACCTATGAATAACTTATTTGAAGAAAATGTCAAAGTGAAGAAAACAAAAATAGAAGGAGAAAATACTTATGATTTTCACAGGATTTACATCAGAAAATACACTACCTCTGATTTTTAAAGGCTATATTTTACTTAAAAATAGATTAAAACGAGCCACTTCTCTGGAAACAATTCAAATTTTCACCAACATACGAATGGAAAAATAATTTGTAGTCAACTCATATAGTAGAATACTACACAGCTGTAAAAAAAAAAACAGACTACTGAAACGTAGTAACGTAAGTCTCAAAAAACTACATATTTGTATGACTCTGTGTAAATGGCATTCTAGAAAAACTTTAGAGATTATCAGAGATTGGAAGTCAGGGAAGGGGACTAACTACAAAGGGGAACAAGGAAACCTCTTGGGAGATAATGAAAATATTCTGCATCAGCCAGGCATGGTAGTTTATGCCTATAATCCCATCACTGTGGGAGGCAGGAAGATCACTTGAGGCCAGGAGTTCCAAAATATTCTGTATCTTGATTGTGGTGGTAGTTACACAACTGTATAAATTTGTCAAAATTCAAAGAACTATACACCTAAAGGGAAGACTTCTACTGTACGAAGTATACCTCATAAATAACCAACCAAAAAACCTCTGTTCTCATTTTAGTTTTCCTACCACTTATATTAAAAAAGAGAGGCTTTGGCTGGGCCCAGTGGCTCACACCTATAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGGATCACCCGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGGAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGCAGTGGCACGCGTCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGGTGCAGTGGGCCCAGATTGCACCACTGCACTCTAGCCTGGGGGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCTTCAGGCCAGGCACAGTGGCTCACACCAATAATCCCAGCACTTTCAGAGGCCAAGGTGGGAGTTTGAGACCATGGTGAAACCCTGTCTGTACAAAAATTACAAAAGGCTGGGAATGGTGGTATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGAATCACTTGAGCCCGCAAGGTCAAGGCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGATGAGAGTTAAGACCCTGTCTGCGGGGTCAGGGAAGAGATCCTTCACAGGAAACCTATCCACTTACCTGTTTTTAAATCTATCTAGTGCAGCAATCCCGAAATAATACATTTTGGATCCAAAAGGCTTGCGTAAGGCTTCAAGAACATATCGTAGAGCCAGACCTAGTGCCATGTAAGTGACCAGTCCTTTCTCAATTATACCACCAAATAGGCAGGCTGTTATATGTAACTCTTTATCAGGATACTGGGGAAAAAAACAATATTCTTCAAACAAGTTCCTTAGCATACAGTTAAATACTTCTCGTTCCCTCTTTATAGTAGAGTCTTTAAATCTCTGCAGCATTTCTAATACCTGGAAAAGCAAGACAAAAACAACGCACACATAAAGGAAACAATTACTAAGAGCCTTTCTCAAATATGCTTAACAAAAGACTATTAAGTAGAACATTTACCAAAAGAGCTTGAGACAAATATTAAGGTTTCAAAACACAAACCGCTATATCAGGGCACTTTGAGCTGGATTTCTAAAAACATTGAAAAGGACATTTATTTAAGACTGGCCTAAACAATAAATAAGTAGATCATCCTAGACACTCACCTCATCAACAGACATGGTTGGATGTGGTGGATGATTATATATTCGCTGGAAATAGCTGTTTGCTTCATCATCTATCTCTTTACTAAAGTGCTGGTTTGCCTCTGGCCACACCTGAGACAAGTCCGCTGTTGGAAACAAAAAAGGAATCAGTGGGCATTTAAGCCCTTCCTCCACTTCCCCATAAAACACAGCCAGCCAGAGACTATTATAGCTCTAACTTCAAGGGAAATATAAAAAAACTGGAAAAGGTATTAAGCGGTCAAGTTTCAGTATTAATGTGTGCTAGGGTAGACGTAAAAGATCCTTAACAAAGTGCCTTCCATAATTCTACATTAGTATTATCTTCATCAGGACTTATTAACACAAAAGTTAACTTGGTTCAAACTCATAACGCACTTACCCTTAATACAACCTCATTAGGTTAACAAATCTTTATCACTTTATAATAAAAATCACATTTAACATATAAGAATTATCATGCATGTGCATGAAAGACTGATGTAAACACAAAGCATGCTACAAAACATAACATTCAGACAAGCCTTTCACACTAACGTTATCAAGTCAGCTGGAATACTTTCAACCTCGTGTCATGACTATGCAGTCCCAATGACAAGGACTTCAGTCAATTATACCTATGGATTTATAAAGATGACTTCTATGAGTTTAGTTAGCATAAAAAATTACTAAGGAGGTGAAACAAAAATTGGAAACAGAAATCTGAAATTGTCCTTCTCACTCCTGACTTGCTTTAAAAAAAACTCAACACATGTTTAGGTTAAGTTCAAGAGTTACATTCGTATATCTACCACATATTAATTTCTCTTTATCATACCTACTTCTTACTTTTAGGATAAACACCCTCAGGATGCAGCCTCTTATTAACCACGACTTTGTTCTGGGAAGGAGTGATACCTCTAACTTTTAATAATTCAAATTTGTGAATTTATTCCCATTGGTCTAGGAGGCACATCAACACATGGCCCTACTAACACAAATGAGACATACAACTAAACATTTTTATCAGTCACACTTCACAATCACAGACAACACTACCACTTACAAGGTTTCATCTTACTCTGCTGGAATGTAGGCTGATTCAGTCCAGAGGTGCCCAGTTTCCTCTGTACAAAAGGGTCGTTATTCACTGCAGGGAGTCCAAGAGCACCAGTTCCTATACCAGTCAGGCTGCCTGTGCCAAGACCACCTACTAGAGAGAACGAAGGCAGCCACAAATCCTATCATTATTCATATTCTTGATTTTATTCACATCTCAGATATATTAATAAGACAGACTTTTAAAATAAAGTCATAGTAACTCTTACTTTAAAAGTCAGAGTCTTTGTTAATTCCCTTATTACATCTATTCAATTTTACAGAGCCTATAAACTAGGCAGTAACGGATAATCCCCAAATTTCTTTAGCATCTGGAATTATTTATATTCTTGATAATGTGCAAAAAATTAATGTATACATTCTCAAAGCACATACTCCTATACCCAAGGTAGTTAAAATAAGGAGCTGGCTGGCTTTTCTCAATGATTCAAATCAAATAATTTCATGATACTATCTTCTAAAGTTACCATGAGTCTCAAAACTTCTTTATTCCTCTCAACTCCGACAAAAGGAATCTTACAATAATTAGAGCTTTGCTAGGAAGGCCTTAATAAGTTCAGTGACGTTTATTTAAATGAATTAATCAAAGCTA
Task1_train_22770
The gene CDH11 (cadherin 11) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Teebi hypertelorism syndrome 2
TCTGGAATTAGACAGTGGTAATGGTTGAACATCTTCATGAAATATACTAAAAACCAATAAATTGTACAAGTTGAACAGGTAAAGTTCATGCTTCATGATATGTAAATTTTTTTCACAACAGAAAAAAAAAAGAGAGTGAGACAGAAAAGCAAATGGCAGCCAGATTTGGCCTATGGGCTATAGTTTGCCAAGGCCTAAACTAGACAGACATCCAGCTCTTTGAGACTATCCTCTAGTGAGGACCTCACATAACCTAAGTGTCCCTGTGATGTAGCCTGGGGGGTGAGGTAGGGAGGAGCAAGAGGAAGGACATCCGATACATCTCTAGGGAGCCCTGGAAGAATTCCTATAGGAGATAACACCTAAGTGGAGATGGAGAAAATGAGTCCAATGTGGTAACTTGGAAAGGCAAGGGCTACCAGCTAGAAGGAGGAACATGTGAAGTCCAGGGATTAGGAGACAGCAGGAGAGCTTCAAAGAATGAGATGGAGGTAGAGGGGTGCAAAGAAGTTTTTTAAACTAAGTGAATGAGGTTAGATTATTTTGAAGAGGGAGACAACAGGGAACCATTTAATCATTAATTTTTTCTTGTGTTTTAACTAAGGTAAGATGTGATGTTTGGATGTGCATTGTATGAGGGTCACTCTGGCTGCAGAGTCAGGATTCATGCAGAGAGGTAAATGAAAGACTGAGGGTTGGGAGACCCTGTGGAGGCATATAAAGAAATCCAAGCAAGAAGGAAATGAGAGGAGTGGCTGTGGGAAAAGAAACCCCTGCTAGAATCCGGTCCAGGGGAAATTCCAGGGCACTATCAACTTCCACTCTGTAAACGTGTGATTCAAGCCCCTTCTCCACCTCCTTCTTATCACCCTCTCATTTTTGTCATTAGCTTCATCAGTCATTAGCTCAGGATGAAGAGGAAAGTGGAGAAGCAGAGTTTTGGATCACTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGCCACCCAGGCTAGAATGCAGTGGCTTGATCTCGGCTTACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGGAGCTGGAATTACAGGTGCATGCCACCATGCCCAGCTAAATTTTGTATTTTTAGTAGAGGCAGGGTTTCATTACATTGTAAAGGCTGGGTTCGAACTCCTTACCTTAGGTGATCCACCCGCCTTAGCCTTCCCAAAGTGATGAGATTACAGATGTGAGCCACGGTGCCCAGCCACAGTTCTGGATCACATTTTTTTTGTCACAAAAAAAGGTATTCATAATAATAAAATCACCTGAAATTTATTTGGACACTTTACTACTTTTACAAAGTACTCAGCAGCAGTTAGACAGAGCTGGCTTTCCTTGCCTCCTGCTCGGTGGCTGTATCATTCCAGGCAAGTCACTTTGTCTTGCATTGCCTCCAATTTCCTCTCATTTTAAGGACTAGCAATTTATACATCGATTAAGTTGAGGGGATTGATTAGATCACATACCTAACCTCCTCATAGAGTAACCAGAGAATGGGAAGGTATTTAATAAATTGCAATTACTATAATTATTTCACAATAATTATTTATATTTCCCCACAGTCCCCTGAGGCAGACAGGCCCAGCTCAGGGCTCCGTCACCTAGTATGCCTGGGGGAATCTGCTCCAGAGCAAAGTCATGTAGCTTGAACAATCCTATCCAAAAAGTCAGGAACAGAGGTGAAGGGAAGCTCATGTCTTCTAAATCTTAATCTTGTTTACATTCTATTGAACCTGATAAACTTGAACCCTTTTTGAAATTGAAAAACGTGGTTCCTACAGGGCTTTCCCAGAACCTCTTGACTCTAAAATTCCCCATCCAAGCTCTTAAAATAAATCCGTCTGTACCTTATCGGGCTGTTGGCAGCATCAGGGTCTTTGGCATGCACTCTCCCAACCACGGTGCCAGCAGCTGCATTTTCTTGGACTTCGTGGATGTAACTTGGGGCCAAGAACATAGGGGGCTCATCAGCATCTTCTACTGAGATCTTGACGGTCACAGTGTCCTTGAAAGGGCCATTGCTGATAAACTTCGGGTCGATGTGCACGTTGGCTGCCTCTACCTTCAAGCTATAGGCTCTTTTGGTTTCAAAATCTACAGGCTGGCAAGAATGAAGAGAAGATTGACAACCAATTCCTTGAAAGAATAATGGAAGAGAAAGACCCGATTGTTTTATAGGGACGAGTGAATATTCCTCAAAGAGAGAAAATCAGAGTCTACTCAATTTCCAATTACCTGAGCCATTTGGTCAGAAAATCACACAAATCAATTGCTGAAACCTAGAATGTGCTTAATGGGTCATTCGAAGAGCACAACAGACACAGAAAGACCACGTCATCTAAAATGAAACTTATTCTATATAGCAACACTAATGTTGCCCAAATAAGTCACTAAGAATTACCTAAGGAAGGGAATTAAAACATTGCAAAAATACATTTGGTACCTCATTCTGAAAACTAAGAATCCTGGTAACAAAAATACCACTGAATTTCAGCCAAAAAGCATGTCTTGTTTGATGACTGCTTCATACCTCTCCCACCCGCAACCATCCAGCTTGATCATATTGAAAGCTTCATGTTGAAAGTTTCTGACCACGTTGTTTCCCAATGTCTGGGACTCTTACCAGCAGTGGCCCATAAGATGACATAGGGTGGTTTATAGGTAATTTGATAGGTGAGGTTGTCAAATGATATTAACTCACATAGTGAGATAATTCTTTCTTTTCCAAGTCTTTAAATCCTTGACACACCAAGTAGAACATCTCCGTTTTAACACATCTGCTCTGCTTCACAATCTCTTTTGTGAGATATTATGATACAACTCTAGCTAGAATGTAATGGCATCGTTTTGGTTTGATTGCATTTATTTTTAAGTTACCTTCTATTTTTGGCAAGTGACAAGATAATAAGGGAAATGTTTCCTTTTTTAAAATGCTTCTTTTTTTAAAAAAAAAAAGAATGCATATATATTAAAGATGGTCTATTTAAAGAAAAACAAATGAAAGCAGTAAAATTTTACACAAATATGAAAGAAAAAAAATGAGTAGTAGCATTTGAATGGCTGTAGTTATAGGGAAATTGATAGTAAACACTGCCTAATTTTGAATGAGAGGAGTTACAGTGAATCAGTCAGCAAAGGATGGAAAGTAACATTGTAGCAGAGAAACAAGCCCGGCTGCCTGGGAAACAACTTTCTAATTAGTGCTCTGGATGTTGCTGAACTACCAAATGTTTGGAAAGAGTTTCATCTTTTAAGGCGAGCATCTGCCTGCCATGCTGTTGTCATTTGCCTGGCAAACGCTTATTCTGAATGGGCATATAGTCATGGGGCTTATTCCTGATCTAATTTTGCAGTACTCTACACTAAAGCTGATGATCCCAGTTTCAACAGGGTTAAGCAAGTTCAATATCCTTGATACTTTTTCTATCATCTTCCCACCTCCATCTTCCCAGAGTCAGGAAACACTACCTTTTCCTAAATCTAAATCTGCCCCCAGCCTTTCCATCATCCTGGGACCCAGCAGTTCCTTTATCCTTGGCTAGGTTACTGAGCAGCAGAAAGGAATGATATTTATAGGCTGAACATACAAGATTGCTGCAACTTCTAAAAAATCCTTTCAAATATTAGATAGCATTAAACACTGGAATATGATAGTTCTGAGACTGGGTAATTTATAATCAGAAAAGTGGAAATTTTCTAATATCACATAGTCTGTTGATCTTGCTAGAGCAGAAACTTTTGTACTTGGTTTAGGCATATGCCTGAGAACCTGGAGCTATTTTCCCACTGGGAAGCCCTGTGGGTGTTGAGGATAATATCCTCATGCTGCAGTTTCACATCCCAAGCTAGGCTCTCCAGGCCTTTGCAGAGGTTTATGTGGGATGTACTTTCCCAGTTTGGCGAGATTCCAAGTCTGGTAGTCAGTTCAAGCCTCATTGCCTTGTGAAGTCCTCCTCAACAGCCCCAGATAGATTTGTGTGGCCCCCTAGTGGCCCTTTGGCAGCCCTTCATTTCCCTCCCCAGCGAG
TCTGGAATTAGACAGTGGTAATGGTTGAACATCTTCATGAAATATACTAAAAACCAATAAATTGTACAAGTTGAACAGGTAAAGTTCATGCTTCATGATATGTAAATTTTTTTCACAACAGAAAAAAAAAAGAGAGTGAGACAGAAAAGCAAATGGCAGCCAGATTTGGCCTATGGGCTATAGTTTGCCAAGGCCTAAACTAGACAGACATCCAGCTCTTTGAGACTATCCTCTAGTGAGGACCTCACATAACCTAAGTGTCCCTGTGATGTAGCCTGGGGGGTGAGGTAGGGAGGAGCAAGAGGAAGGACATCCGATACATCTCTAGGGAGCCCTGGAAGAATTCCTATAGGAGATAACACCTAAGTGGAGATGGAGAAAATGAGTCCAATGTGGTAACTTGGAAAGGCAAGGGCTACCAGCTAGAAGGAGGAACATGTGAAGTCCAGGGATTAGGAGACAGCAGGAGAGCTTCAAAGAATGAGATGGAGGTAGAGGGGTGCAAAGAAGTTTTTTAAACTAAGTGAATGAGGTTAGATTATTTTGAAGAGGGAGACAACAGGGAACCATTTAATCATTAATTTTTTCTTGTGTTTTAACTAAGGTAAGATGTGATGTTTGGATGTGCATTGTATGAGGGTCACTCTGGCTGCAGAGTCAGGATTCATGCAGAGAGGTAAATGAAAGACTGAGGGTTGGGAGACCCTGTGGAGGCATATAAAGAAATCCAAGCAAGAAGGAAATGAGAGGAGTGGCTGTGGGAAAAGAAACCCCTGCTAGAATCCGGTCCAGGGGAAATTCCAGGGCACTATCAACTTCCACTCTGTAAACGTGTGATTCAAGCCCCTTCTCCACCTCCTTCTTATCACCCTCTCATTTTTGTCATTAGCTTCATCAGTCATTAGCTCAGGATGAAGAGGAAAGTGGAGAAGCAGAGTTTTGGATCACTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGCCACCCAGGCTAGAATGCAGTGGCTTGATCTCGGCTTACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGGAGCTGGAATTACAGGTGCATGCCACCATGCCCAGCTAAATTTTGTATTTTTAGTAGAGGCAGGGTTTCATTACATTGTAAAGGCTGGGTTCGAACTCCTTACCTTAGGTGATCCACCCGCCTTAGCCTTCCCAAAGTGATGAGATTACAGATGTGAGCCACGGTGCCCAGCCACAGTTCTGGATCACATTTTTTTTGTCACAAAAAAAGGTATTCATAATAATAAAATCACCTGAAATTTATTTGGACACTTTACTACTTTTACAAAGTACTCAGCAGCAGTTAGACAGAGCTGGCTTTCCTTGCCTCCTGCTCGGTGGCTGTATCATTCCAGGCAAGTCACTTTGTCTTGCATTGCCTCCAATTTCCTCTCATTTTAAGGACTAGCAATTTATACATCGATTAAGTTGAGGGGATTGATTAGATCACATACCTAACCTCCTCATAGAGTAACCAGAGAATGGGAAGGTATTTAATAAATTGCAATTACTATAATTATTTCACAATAATTATTTATATTTCCCCACAGTCCCCTGAGGCAGACAGGCCCAGCTCAGGGCTCCGTCACCTAGTATGCCTGGGGGAATCTGCTCCAGAGCAAAGTCATGTAGCTTGAACAATCCTATCCAAAAAGTCAGGAACAGAGGTGAAGGGAAGCTCATGTCTTCTAAATCTTAATCTTGTTTACATTCTATTGAACCTGATAAACTTGAACCCTTTTTGAAATTGAAAAACGTGGTTCCTACAGGGCTTTCCCAGAACCTCTTGACTCTAAAATTCCCCATCCAAGCTCTTAAAATAAATCCGTCTGTACCTTATCGGGCTGTTGGCAGCATCAGGGTCTTTGGCATGCACTCTCCCAACCACGGTGCCAGCAGCTGCATTTTCTTGGACTTCGTGGATGTAACTTGGGGCCAAGAACATAGGGGGCTCATCAGCATCTTCTTCTGAGATCTTGACGGTCACAGTGTCCTTGAAAGGGCCATTGCTGATAAACTTCGGGTCGATGTGCACGTTGGCTGCCTCTACCTTCAAGCTATAGGCTCTTTTGGTTTCAAAATCTACAGGCTGGCAAGAATGAAGAGAAGATTGACAACCAATTCCTTGAAAGAATAATGGAAGAGAAAGACCCGATTGTTTTATAGGGACGAGTGAATATTCCTCAAAGAGAGAAAATCAGAGTCTACTCAATTTCCAATTACCTGAGCCATTTGGTCAGAAAATCACACAAATCAATTGCTGAAACCTAGAATGTGCTTAATGGGTCATTCGAAGAGCACAACAGACACAGAAAGACCACGTCATCTAAAATGAAACTTATTCTATATAGCAACACTAATGTTGCCCAAATAAGTCACTAAGAATTACCTAAGGAAGGGAATTAAAACATTGCAAAAATACATTTGGTACCTCATTCTGAAAACTAAGAATCCTGGTAACAAAAATACCACTGAATTTCAGCCAAAAAGCATGTCTTGTTTGATGACTGCTTCATACCTCTCCCACCCGCAACCATCCAGCTTGATCATATTGAAAGCTTCATGTTGAAAGTTTCTGACCACGTTGTTTCCCAATGTCTGGGACTCTTACCAGCAGTGGCCCATAAGATGACATAGGGTGGTTTATAGGTAATTTGATAGGTGAGGTTGTCAAATGATATTAACTCACATAGTGAGATAATTCTTTCTTTTCCAAGTCTTTAAATCCTTGACACACCAAGTAGAACATCTCCGTTTTAACACATCTGCTCTGCTTCACAATCTCTTTTGTGAGATATTATGATACAACTCTAGCTAGAATGTAATGGCATCGTTTTGGTTTGATTGCATTTATTTTTAAGTTACCTTCTATTTTTGGCAAGTGACAAGATAATAAGGGAAATGTTTCCTTTTTTAAAATGCTTCTTTTTTTAAAAAAAAAAAGAATGCATATATATTAAAGATGGTCTATTTAAAGAAAAACAAATGAAAGCAGTAAAATTTTACACAAATATGAAAGAAAAAAAATGAGTAGTAGCATTTGAATGGCTGTAGTTATAGGGAAATTGATAGTAAACACTGCCTAATTTTGAATGAGAGGAGTTACAGTGAATCAGTCAGCAAAGGATGGAAAGTAACATTGTAGCAGAGAAACAAGCCCGGCTGCCTGGGAAACAACTTTCTAATTAGTGCTCTGGATGTTGCTGAACTACCAAATGTTTGGAAAGAGTTTCATCTTTTAAGGCGAGCATCTGCCTGCCATGCTGTTGTCATTTGCCTGGCAAACGCTTATTCTGAATGGGCATATAGTCATGGGGCTTATTCCTGATCTAATTTTGCAGTACTCTACACTAAAGCTGATGATCCCAGTTTCAACAGGGTTAAGCAAGTTCAATATCCTTGATACTTTTTCTATCATCTTCCCACCTCCATCTTCCCAGAGTCAGGAAACACTACCTTTTCCTAAATCTAAATCTGCCCCCAGCCTTTCCATCATCCTGGGACCCAGCAGTTCCTTTATCCTTGGCTAGGTTACTGAGCAGCAGAAAGGAATGATATTTATAGGCTGAACATACAAGATTGCTGCAACTTCTAAAAAATCCTTTCAAATATTAGATAGCATTAAACACTGGAATATGATAGTTCTGAGACTGGGTAATTTATAATCAGAAAAGTGGAAATTTTCTAATATCACATAGTCTGTTGATCTTGCTAGAGCAGAAACTTTTGTACTTGGTTTAGGCATATGCCTGAGAACCTGGAGCTATTTTCCCACTGGGAAGCCCTGTGGGTGTTGAGGATAATATCCTCATGCTGCAGTTTCACATCCCAAGCTAGGCTCTCCAGGCCTTTGCAGAGGTTTATGTGGGATGTACTTTCCCAGTTTGGCGAGATTCCAAGTCTGGTAGTCAGTTCAAGCCTCATTGCCTTGTGAAGTCCTCCTCAACAGCCCCAGATAGATTTGTGTGGCCCCCTAGTGGCCCTTTGGCAGCCCTTCATTTCCCTCCCCAGCGAG
Task1_train_22771
Given this context: Chromosome 16, gene CDH11 (cadherin 11) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Teebi hypertelorism syndrome 2
ATGGAATGACTTTCACAAGGAGTCATATTTTTACTCTGTTAAATTCATCTATAATTTTTCTTTTTTTTCCCCCGGTGGACATTTGGAACTTTGTGCTAGAAGTTTGAGCAAATGTTCTTTTACAAATGCAATAACATCTTACACTATTTAAAACCTAAGCATCAGTGCTTTATAGAAGATTATTCCTTTGCCTAGAATAAACACACTGAATTGGAGGCAAATGTGCAAATTAATCATATGCAGAGAGCTCATTTGCGACGTGTGAGTTCCATGGGGGTGATTTAAATGTTTCAGGATTTCAGAGATACAGTGTGTGTTTATGCCCTGAATACACTAAAAACAGGTGACAACCTTAGCATAACCAACTACCCAATTACATGAACAGCAAAGGATGGGAGGCAGGAATTGCTGATGTCAATGTTCATATGTCAGTGTCAAGCAGAAGAGATAGTAATATTAATTAACGAAGTAAGTTGACAGCTCTAGGCAACACACAATTCACACAGCTACTTTTCCAGAGGAGAAACCAGAATTAGTGACTGCCCTAGCTCCCTGTGGTTGATAATTAGGCTTCCTCGGTCCTACCATTCATCCATTAATGTAGACTTTTCCAAGTATCCAAATTTCACCCCAATTTCCATATCCTTCATTTTCTTTCTTTTTTTATAACAATCACCCCCTACCTTTTCTTTGTTTTGTGCTCTATAATATTTTCCCCAACCCCAACATACTTTAAAAGTCTGTGAAAGGTCAGTTTCTTAGCACAGGTCACTCCTTGCTCCCCCACCTGAAAGATTCCTTTCAGGACCTGTCTTCCCCCACTGGTCCTTCCCTCCTCTTTAGCTACTGGCCTCTTTATTGATGCTTCAAATTAATTTTCTATCAGTGTTAGAGTCCAGTCTTTTCCATCGCACCAAGGAGTTTAATATTCATGCTATAAAACTAAGTTGAAAATGAACGCTTGATTAAAACCAAGGTAATCCCATCTTCCAATTCCGATTTAATGCTCCATACACTTTCATGATGGAGAGGTGTTGATTTCTCAAGTGGTAAATCACGGGGGGAAACCTTTTTAGAATGTACGGGAATTATTTCTTCACTTGGAAGTGAATCTTATCTGGCTCTTCTTTACAAACGCTTTCCAGGCCAGCTGTTTTCAAAATGTCTTGAGAGGGAAGTTGTTCTAGAATAACTAAGGTGTGAATTCCAGGTCGGCATGCCTGAGCTATATGACAGTGACTGGGTCAAATGATTTCATCTGTCTGAGCCCCAATCTCCTCAAAATTAAGTTGAGGTCTCTTTGCCCATTGGGATAACACTACCTACTTCATACTTTTGTTTGTTTTTGTGAAAAGTAAATGAAATGATGTTTGTAAGAGGATGGTGCTGTGTCTGGCCAGTAGTCAGTATTGAGCGCATGTAAAAAAGAAGAAACACTAAACTTCTCTTTGTAATAAATTAATTCCAGATACATGTTTTTGGAGACTGACTATGAGGGGAGGTCCACAGGCTCTTTGACTAGGGGAGAAGGTCCATTATTGTTGCTTCTCCAGGTTCACTTGAGATAAAAACAAGTAGAGAAGGCTTCAGTTTCACAGAGGGTCCAGCAATGCAGTGAATCTTGAATGTTGAAACAGTAAGAGTTCTGAACAGCTTATCTAACAGATTCAGTGTGGCAGAGCTAAGGGGGGAATTCCATGCATGCTCAGGGCTGCTTCTTCAAAATCTAGATTTATCTCATTGTCCTTCCCTCCATGGGAGAACTGTGCTTCCCTCCATCGGAAAACATTTAAGAACTAACTAGCAATCTCAGGCAGGTATCACCAGCCCCTTTGTCAGCTTCTCTGCAGTAACAGAAAGGAATACAATTCTGTGATCTTCCAGAGCTCAGAGCTCAACTACAAAGTCAGGTCAGCCCCTGGTTTCGCAAATTCTCATTTCTTAACCGTCGCCTCCCTGTTTCTTGCAGTGTTGCCTTGGCAGAGCAGGCCATACCACTGACACGTCTGATTCCTTACCCTAACTCACCTTTTTCAGCTTTATCACCCCCTCCTGTGTTTCATAGTCCGTTGTGATTTCAAACGATTCCATACCATCTCCATCAACAATATTGTATGTGACTAAGCCATTTTCTCCAATGTCTGGATCTTTAGCTTTCACTCTTCCTACTTCCTCCCCAGGGACGGCTGCTTCTGACACAGACATCTGGTATACGCCTAGAAGAAGAAGACATCTATTTTTATTTTCTCTTTTATTTGGCAGCTGTAAGACTATAGATTTCATTGAATCCCAATAAATTTCTCAAAGGATTTGAAATTGAACTTTCTATTGACTGAAAACATGAAAGAAGTGAGTGGATGTGGGGAGGAGGATCCCACATGGCCTGCTTGTCAAAAGAATGTGTTCTACGAAGGGTGATAAAACAATATCTGGGTCCAGGTGAAATGCTGGGGTCACCTGCCACATGTAAGGGAGAAAAACAATGCTCTGTTACATTTCCCATCAGGTAATGATGGAGAACCATGCATGTCTTCATTTAGCAAAATAGCTGAAGCTTCTTTTCATGTCTTCAGGATGGTCCATGAGTTAACTCCAAGGCTCACTTATGGTATTGCGAAGAGCCCAGAAAAAAAAAATTCTCTGTTTAAAAGCCTTCCTTCAACAGCTCCATAGTTACTTTAAAAATGCAAACTTTAACATCCCTCCCTGTCTAACTCTATATTCGACACTCCCCTTATTTCACCTCCTTCGCAACTTGCCTGCTTCACAAGTTGGTCATGCGTTACCTTCTCCAGAAGGCTTTCCTGCAGTGTGACCCTCCTATATATTTATTTAATGTTTATTGGGAGCCTAATACTGTACATGGAGGTACTGTCCTAGTGCCAGGACACTGTTTTGTTTGCTTGTTTTGTTTACTACTAAACAAAACAGTCAAGATTCCTCTCTTAATGAGGCCGACTAAAGAGAAAAAATAAAAACAAATGTAAACACACTCTGATGTCACTGCAATGAAAAAGGAAAATAAAGTAGGGTAAAAGGGTGAGGGTTCTGAGAGTGGGTGTGTGGTTGTGGGTGTGTAAGTGCATGATTGTGTGTGAGGGTGAGGGGGTAAATGTGTGAGTGGCCATGAGTGATTGTGTGGGCATGAATCTGTTGTGTAAGAGTGTGAGTGTGTGTATGAATGTGAGCTATTTGTGAGTGAGTTTGTGTATGTGTATGAGTGTGATTGAACACGCATGCTTGTGTTAATAATGTGTGGGTGATAAGCAGAAAGAGGGAGAGATTGGTTTTGCGTAGTGTGGTAGGAGAAGACATTCTTTAGAAAAAGGAATCTAAAATGACTGAGGAAGACAATGACGTGCATATCTGCAGGATAAAAACTACCAGCCAGGTGATTAGCAAATGGCAAAAACCCTAAGGTGAGAAGATCCTGAATACTTGCAGAGGAGCAAGAGGAGGAGAGTGACTACAGCCTTCTGGTGAGAGAGAAGGGCTGTAAGGAAGTGGAGGCCAAATTGCGTAAAATAGACCATTGTGGGGAATGGAAAAGACTTCAGGTTTTGTTTAAACTTGGGGAAATCACTGGAAGGTTTGCACTAAGTAGCTAAGATTCAACATTATCTTATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTATGTGGATTTTGTCCAAATCTCATTCAAGTTCACGGCAGTGAAACCAGTAAAACCAGTACAGTAGCAATGTAACTTTACTATATGATTGTCTATGACCAAGGGCAGTAAAGGCTGCCTGCTAATAATTCTGCTTGACCTTTCTTTTCCAGCTC
ATGGAATGACTTTCACAAGGAGTCATATTTTTACTCTGTTAAATTCATCTATAATTTTTCTTTTTTTTCCCCCGGTGGACATTTGGAACTTTGTGCTAGAAGTTTGAGCAAATGTTCTTTTACAAATGCAATAACATCTTACACTATTTAAAACCTAAGCATCAGTGCTTTATAGAAGATTATTCCTTTGCCTAGAATAAACACACTGAATTGGAGGCAAATGTGCAAATTAATCATATGCAGAGAGCTCATTTGCGACGTGTGAGTTCCATGGGGGTGATTTAAATGTTTCAGGATTTCAGAGATACAGTGTGTGTTTATGCCCTGAATACACTAAAAACAGGTGACAACCTTAGCATAACCAACTACCCAATTACATGAACAGCAAAGGATGGGAGGCAGGAATTGCTGATGTCAATGTTCATATGTCAGTGTCAAGCAGAAGAGATAGTAATATTAATTAACGAAGTAAGTTGACAGCTCTAGGCAACACACAATTCACACAGCTACTTTTCCAGAGGAGAAACCAGAATTAGTGACTGCCCTAGCTCCCTGTGGTTGATAATTAGGCTTCCTCGGTCCTACCATTCATCCATTAATGTAGACTTTTCCAAGTATCCAAATTTCACCCCAATTTCCATATCCTTCATTTTCTTTCTTTTTTTATAACAATCACCCCCTACCTTTTCTTTGTTTTGTGCTCTATAATATTTTCCCCAACCCCAACATACTTTAAAAGTCTGTGAAAGGTCAGTTTCTTAGCACAGGTCACTCCTTGCTCCCCCACCTGAAAGATTCCTTTCAGGACCTGTCTTCCCCCACTGGTCCTTCCCTCCTCTTTAGCTACTGGCCTCTTTATTGATGCTTCAAATTAATTTTCTATCAGTGTTAGAGTCCAGTCTTTTCCATCGCACCAAGGAGTTTAATATTCATGCTATAAAACTAAGTTGAAAATGAACGCTTGATTAAAACCAAGGTAATCCCATCTTCCAATTCCGATTTAATGCTCCATACACTTTCATGATGGAGAGGTGTTGATTTCTCAAGTGGTAAATCACGGGGGGAAACCTTTTTAGAATGTACGGGAATTATTTCTTCACTTGGAAGTGAATCTTATCTGGCTCTTCTTTACAAACGCTTTCCAGGCCAGCTGTTTTCAAAATGTCTTGAGAGGGAAGTTGTTCTAGAATAACTAAGGTGTGAATTCCAGGTCGGCATGCCTGAGCTATATGACAGTGACTGGGTCAAATGATTTCATCTGTCTGAGCCCCAATCTCCTCAAAATTAAGTTGAGGTCTCTTTGCCCATTGGGATAACACTACCTACTTCATACTTTTGTTTGTTTTTGTGAAAAGTAAATGAAATGATGTTTGTAAGAGGATGGTGCTGTGTCTGGCCAGTAGTCAGTATTGAGCGCATGTAAAAAAGAAGAAACACTAAACTTCTCTTTGTAATAAATTAATTCCAGATACATGTTTTTGGAGACTGACTATGAGGGGAGGTCCACAGGCTCTTTGACTAGGGGAGAAGGTCCATTATTGTTGCTTCTCCAGGTTCACTTGAGATAAAAACAAGTAGAGAAGGCTTCAGTTTCACAGAGGGTCCAGCAATGCAGTGAATCTTGAATGTTGAAACAGTAAGAGTTCTGAACAGCTTATCTAACAGATTCAGTGTGGCAGAGCTAAGGGGGGAATTCCATGCATGCTCAGGGCTGCTTCTTCAAAATCTAGATTTATCTCATTGTCCTTCCCTCCATGGGAGAACTGTGCTTCCCTCCATCGGAAAACATTTAAGAACTAACTAGCAATCTCAGGCAGGTATCACCAGCCCCTTTGTCAGCTTCTCTGCAGTAACAGAAAGGAATACAATTCTGTGATCTTCCAGAGCTCAGAGCTCAACTACAAAGTCAGGTCAGCCCCTGGTTTCGCAAATTCTCATTTCTTAACCGTCGCCTCCCTGTTTCTTGCAGTGTTGCCTTGGCAGAGCAGGCCATACCACTGACACGTCTGATTCCTTACCCTAACTCACCTTTTTCAGCTTTATCACCCACTCCTGTGTTTCATAGTCCGTTGTGATTTCAAACGATTCCATACCATCTCCATCAACAATATTGTATGTGACTAAGCCATTTTCTCCAATGTCTGGATCTTTAGCTTTCACTCTTCCTACTTCCTCCCCAGGGACGGCTGCTTCTGACACAGACATCTGGTATACGCCTAGAAGAAGAAGACATCTATTTTTATTTTCTCTTTTATTTGGCAGCTGTAAGACTATAGATTTCATTGAATCCCAATAAATTTCTCAAAGGATTTGAAATTGAACTTTCTATTGACTGAAAACATGAAAGAAGTGAGTGGATGTGGGGAGGAGGATCCCACATGGCCTGCTTGTCAAAAGAATGTGTTCTACGAAGGGTGATAAAACAATATCTGGGTCCAGGTGAAATGCTGGGGTCACCTGCCACATGTAAGGGAGAAAAACAATGCTCTGTTACATTTCCCATCAGGTAATGATGGAGAACCATGCATGTCTTCATTTAGCAAAATAGCTGAAGCTTCTTTTCATGTCTTCAGGATGGTCCATGAGTTAACTCCAAGGCTCACTTATGGTATTGCGAAGAGCCCAGAAAAAAAAAATTCTCTGTTTAAAAGCCTTCCTTCAACAGCTCCATAGTTACTTTAAAAATGCAAACTTTAACATCCCTCCCTGTCTAACTCTATATTCGACACTCCCCTTATTTCACCTCCTTCGCAACTTGCCTGCTTCACAAGTTGGTCATGCGTTACCTTCTCCAGAAGGCTTTCCTGCAGTGTGACCCTCCTATATATTTATTTAATGTTTATTGGGAGCCTAATACTGTACATGGAGGTACTGTCCTAGTGCCAGGACACTGTTTTGTTTGCTTGTTTTGTTTACTACTAAACAAAACAGTCAAGATTCCTCTCTTAATGAGGCCGACTAAAGAGAAAAAATAAAAACAAATGTAAACACACTCTGATGTCACTGCAATGAAAAAGGAAAATAAAGTAGGGTAAAAGGGTGAGGGTTCTGAGAGTGGGTGTGTGGTTGTGGGTGTGTAAGTGCATGATTGTGTGTGAGGGTGAGGGGGTAAATGTGTGAGTGGCCATGAGTGATTGTGTGGGCATGAATCTGTTGTGTAAGAGTGTGAGTGTGTGTATGAATGTGAGCTATTTGTGAGTGAGTTTGTGTATGTGTATGAGTGTGATTGAACACGCATGCTTGTGTTAATAATGTGTGGGTGATAAGCAGAAAGAGGGAGAGATTGGTTTTGCGTAGTGTGGTAGGAGAAGACATTCTTTAGAAAAAGGAATCTAAAATGACTGAGGAAGACAATGACGTGCATATCTGCAGGATAAAAACTACCAGCCAGGTGATTAGCAAATGGCAAAAACCCTAAGGTGAGAAGATCCTGAATACTTGCAGAGGAGCAAGAGGAGGAGAGTGACTACAGCCTTCTGGTGAGAGAGAAGGGCTGTAAGGAAGTGGAGGCCAAATTGCGTAAAATAGACCATTGTGGGGAATGGAAAAGACTTCAGGTTTTGTTTAAACTTGGGGAAATCACTGGAAGGTTTGCACTAAGTAGCTAAGATTCAACATTATCTTATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTATGTGGATTTTGTCCAAATCTCATTCAAGTTCACGGCAGTGAAACCAGTAAAACCAGTACAGTAGCAATGTAACTTTACTATATGATTGTCTATGACCAAGGGCAGTAAAGGCTGCCTGCTAATAATTCTGCTTGACCTTTCTTTTCCAGCTC
Task1_train_22772
The variant affects gene CDH11 (cadherin 11), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Teebi hypertelorism syndrome 2
TATTTAAAACCTAAGCATCAGTGCTTTATAGAAGATTATTCCTTTGCCTAGAATAAACACACTGAATTGGAGGCAAATGTGCAAATTAATCATATGCAGAGAGCTCATTTGCGACGTGTGAGTTCCATGGGGGTGATTTAAATGTTTCAGGATTTCAGAGATACAGTGTGTGTTTATGCCCTGAATACACTAAAAACAGGTGACAACCTTAGCATAACCAACTACCCAATTACATGAACAGCAAAGGATGGGAGGCAGGAATTGCTGATGTCAATGTTCATATGTCAGTGTCAAGCAGAAGAGATAGTAATATTAATTAACGAAGTAAGTTGACAGCTCTAGGCAACACACAATTCACACAGCTACTTTTCCAGAGGAGAAACCAGAATTAGTGACTGCCCTAGCTCCCTGTGGTTGATAATTAGGCTTCCTCGGTCCTACCATTCATCCATTAATGTAGACTTTTCCAAGTATCCAAATTTCACCCCAATTTCCATATCCTTCATTTTCTTTCTTTTTTTATAACAATCACCCCCTACCTTTTCTTTGTTTTGTGCTCTATAATATTTTCCCCAACCCCAACATACTTTAAAAGTCTGTGAAAGGTCAGTTTCTTAGCACAGGTCACTCCTTGCTCCCCCACCTGAAAGATTCCTTTCAGGACCTGTCTTCCCCCACTGGTCCTTCCCTCCTCTTTAGCTACTGGCCTCTTTATTGATGCTTCAAATTAATTTTCTATCAGTGTTAGAGTCCAGTCTTTTCCATCGCACCAAGGAGTTTAATATTCATGCTATAAAACTAAGTTGAAAATGAACGCTTGATTAAAACCAAGGTAATCCCATCTTCCAATTCCGATTTAATGCTCCATACACTTTCATGATGGAGAGGTGTTGATTTCTCAAGTGGTAAATCACGGGGGGAAACCTTTTTAGAATGTACGGGAATTATTTCTTCACTTGGAAGTGAATCTTATCTGGCTCTTCTTTACAAACGCTTTCCAGGCCAGCTGTTTTCAAAATGTCTTGAGAGGGAAGTTGTTCTAGAATAACTAAGGTGTGAATTCCAGGTCGGCATGCCTGAGCTATATGACAGTGACTGGGTCAAATGATTTCATCTGTCTGAGCCCCAATCTCCTCAAAATTAAGTTGAGGTCTCTTTGCCCATTGGGATAACACTACCTACTTCATACTTTTGTTTGTTTTTGTGAAAAGTAAATGAAATGATGTTTGTAAGAGGATGGTGCTGTGTCTGGCCAGTAGTCAGTATTGAGCGCATGTAAAAAAGAAGAAACACTAAACTTCTCTTTGTAATAAATTAATTCCAGATACATGTTTTTGGAGACTGACTATGAGGGGAGGTCCACAGGCTCTTTGACTAGGGGAGAAGGTCCATTATTGTTGCTTCTCCAGGTTCACTTGAGATAAAAACAAGTAGAGAAGGCTTCAGTTTCACAGAGGGTCCAGCAATGCAGTGAATCTTGAATGTTGAAACAGTAAGAGTTCTGAACAGCTTATCTAACAGATTCAGTGTGGCAGAGCTAAGGGGGGAATTCCATGCATGCTCAGGGCTGCTTCTTCAAAATCTAGATTTATCTCATTGTCCTTCCCTCCATGGGAGAACTGTGCTTCCCTCCATCGGAAAACATTTAAGAACTAACTAGCAATCTCAGGCAGGTATCACCAGCCCCTTTGTCAGCTTCTCTGCAGTAACAGAAAGGAATACAATTCTGTGATCTTCCAGAGCTCAGAGCTCAACTACAAAGTCAGGTCAGCCCCTGGTTTCGCAAATTCTCATTTCTTAACCGTCGCCTCCCTGTTTCTTGCAGTGTTGCCTTGGCAGAGCAGGCCATACCACTGACACGTCTGATTCCTTACCCTAACTCACCTTTTTCAGCTTTATCACCCCCTCCTGTGTTTCATAGTCCGTTGTGATTTCAAACGATTCCATACCATCTCCATCAACAATATTGTATGTGACTAAGCCATTTTCTCCAATGTCTGGATCTTTAGCTTTCACTCTTCCTACTTCCTCCCCAGGGACGGCTGCTTCTGACACAGACATCTGGTATACGCCTAGAAGAAGAAGACATCTATTTTTATTTTCTCTTTTATTTGGCAGCTGTAAGACTATAGATTTCATTGAATCCCAATAAATTTCTCAAAGGATTTGAAATTGAACTTTCTATTGACTGAAAACATGAAAGAAGTGAGTGGATGTGGGGAGGAGGATCCCACATGGCCTGCTTGTCAAAAGAATGTGTTCTACGAAGGGTGATAAAACAATATCTGGGTCCAGGTGAAATGCTGGGGTCACCTGCCACATGTAAGGGAGAAAAACAATGCTCTGTTACATTTCCCATCAGGTAATGATGGAGAACCATGCATGTCTTCATTTAGCAAAATAGCTGAAGCTTCTTTTCATGTCTTCAGGATGGTCCATGAGTTAACTCCAAGGCTCACTTATGGTATTGCGAAGAGCCCAGAAAAAAAAAATTCTCTGTTTAAAAGCCTTCCTTCAACAGCTCCATAGTTACTTTAAAAATGCAAACTTTAACATCCCTCCCTGTCTAACTCTATATTCGACACTCCCCTTATTTCACCTCCTTCGCAACTTGCCTGCTTCACAAGTTGGTCATGCGTTACCTTCTCCAGAAGGCTTTCCTGCAGTGTGACCCTCCTATATATTTATTTAATGTTTATTGGGAGCCTAATACTGTACATGGAGGTACTGTCCTAGTGCCAGGACACTGTTTTGTTTGCTTGTTTTGTTTACTACTAAACAAAACAGTCAAGATTCCTCTCTTAATGAGGCCGACTAAAGAGAAAAAATAAAAACAAATGTAAACACACTCTGATGTCACTGCAATGAAAAAGGAAAATAAAGTAGGGTAAAAGGGTGAGGGTTCTGAGAGTGGGTGTGTGGTTGTGGGTGTGTAAGTGCATGATTGTGTGTGAGGGTGAGGGGGTAAATGTGTGAGTGGCCATGAGTGATTGTGTGGGCATGAATCTGTTGTGTAAGAGTGTGAGTGTGTGTATGAATGTGAGCTATTTGTGAGTGAGTTTGTGTATGTGTATGAGTGTGATTGAACACGCATGCTTGTGTTAATAATGTGTGGGTGATAAGCAGAAAGAGGGAGAGATTGGTTTTGCGTAGTGTGGTAGGAGAAGACATTCTTTAGAAAAAGGAATCTAAAATGACTGAGGAAGACAATGACGTGCATATCTGCAGGATAAAAACTACCAGCCAGGTGATTAGCAAATGGCAAAAACCCTAAGGTGAGAAGATCCTGAATACTTGCAGAGGAGCAAGAGGAGGAGAGTGACTACAGCCTTCTGGTGAGAGAGAAGGGCTGTAAGGAAGTGGAGGCCAAATTGCGTAAAATAGACCATTGTGGGGAATGGAAAAGACTTCAGGTTTTGTTTAAACTTGGGGAAATCACTGGAAGGTTTGCACTAAGTAGCTAAGATTCAACATTATCTTATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTATGTGGATTTTGTCCAAATCTCATTCAAGTTCACGGCAGTGAAACCAGTAAAACCAGTACAGTAGCAATGTAACTTTACTATATGATTGTCTATGACCAAGGGCAGTAAAGGCTGCCTGCTAATAATTCTGCTTGACCTTTCTTTTCCAGCTCACCAGACAATCGTACAGTGTGGATAATGGAGCATGCAGCTCTTTGAATGTTATATGAGCCTCAGGCTTATTGAGGATGCTGAACTTGTGCCCGGCCAGGCAAAAGAGTCTTGTGTAGATTCTTGCTTTTGAATTCCTTTGAGTA
TATTTAAAACCTAAGCATCAGTGCTTTATAGAAGATTATTCCTTTGCCTAGAATAAACACACTGAATTGGAGGCAAATGTGCAAATTAATCATATGCAGAGAGCTCATTTGCGACGTGTGAGTTCCATGGGGGTGATTTAAATGTTTCAGGATTTCAGAGATACAGTGTGTGTTTATGCCCTGAATACACTAAAAACAGGTGACAACCTTAGCATAACCAACTACCCAATTACATGAACAGCAAAGGATGGGAGGCAGGAATTGCTGATGTCAATGTTCATATGTCAGTGTCAAGCAGAAGAGATAGTAATATTAATTAACGAAGTAAGTTGACAGCTCTAGGCAACACACAATTCACACAGCTACTTTTCCAGAGGAGAAACCAGAATTAGTGACTGCCCTAGCTCCCTGTGGTTGATAATTAGGCTTCCTCGGTCCTACCATTCATCCATTAATGTAGACTTTTCCAAGTATCCAAATTTCACCCCAATTTCCATATCCTTCATTTTCTTTCTTTTTTTATAACAATCACCCCCTACCTTTTCTTTGTTTTGTGCTCTATAATATTTTCCCCAACCCCAACATACTTTAAAAGTCTGTGAAAGGTCAGTTTCTTAGCACAGGTCACTCCTTGCTCCCCCACCTGAAAGATTCCTTTCAGGACCTGTCTTCCCCCACTGGTCCTTCCCTCCTCTTTAGCTACTGGCCTCTTTATTGATGCTTCAAATTAATTTTCTATCAGTGTTAGAGTCCAGTCTTTTCCATCGCACCAAGGAGTTTAATATTCATGCTATAAAACTAAGTTGAAAATGAACGCTTGATTAAAACCAAGGTAATCCCATCTTCCAATTCCGATTTAATGCTCCATACACTTTCATGATGGAGAGGTGTTGATTTCTCAAGTGGTAAATCACGGGGGGAAACCTTTTTAGAATGTACGGGAATTATTTCTTCACTTGGAAGTGAATCTTATCTGGCTCTTCTTTACAAACGCTTTCCAGGCCAGCTGTTTTCAAAATGTCTTGAGAGGGAAGTTGTTCTAGAATAACTAAGGTGTGAATTCCAGGTCGGCATGCCTGAGCTATATGACAGTGACTGGGTCAAATGATTTCATCTGTCTGAGCCCCAATCTCCTCAAAATTAAGTTGAGGTCTCTTTGCCCATTGGGATAACACTACCTACTTCATACTTTTGTTTGTTTTTGTGAAAAGTAAATGAAATGATGTTTGTAAGAGGATGGTGCTGTGTCTGGCCAGTAGTCAGTATTGAGCGCATGTAAAAAAGAAGAAACACTAAACTTCTCTTTGTAATAAATTAATTCCAGATACATGTTTTTGGAGACTGACTATGAGGGGAGGTCCACAGGCTCTTTGACTAGGGGAGAAGGTCCATTATTGTTGCTTCTCCAGGTTCACTTGAGATAAAAACAAGTAGAGAAGGCTTCAGTTTCACAGAGGGTCCAGCAATGCAGTGAATCTTGAATGTTGAAACAGTAAGAGTTCTGAACAGCTTATCTAACAGATTCAGTGTGGCAGAGCTAAGGGGGGAATTCCATGCATGCTCAGGGCTGCTTCTTCAAAATCTAGATTTATCTCATTGTCCTTCCCTCCATGGGAGAACTGTGCTTCCCTCCATCGGAAAACATTTAAGAACTAACTAGCAATCTCAGGCAGGTATCACCAGCCCCTTTGTCAGCTTCTCTGCAGTAACAGAAAGGAATACAATTCTGTGATCTTCCAGAGCTCAGAGCTCAACTACAAAGTCAGGTCAGCCCCTGGTTTCGCAAATTCTCATTTCTTAACCGTCGCCTCCCTGTTTCTTGCAGTGTTGCCTTGGCAGAGCAGGCCATACCACTGACACGTCTGATTCCTTACCCTAACTCACCTTTTTCAGCTTTATCACCCCCTCCTGTGTTTCATAGTCCGTTGTGATTTCAAACGATTCCATACCATCTCCATCAACAATATTGTATGTGACTAAGCCATTTTCTCCAATGTCTGGATCTTTAGCTTTCACTCTTCCTACTTCCTCCCCAGGGACGGCTGCTTGTGACACAGACATCTGGTATACGCCTAGAAGAAGAAGACATCTATTTTTATTTTCTCTTTTATTTGGCAGCTGTAAGACTATAGATTTCATTGAATCCCAATAAATTTCTCAAAGGATTTGAAATTGAACTTTCTATTGACTGAAAACATGAAAGAAGTGAGTGGATGTGGGGAGGAGGATCCCACATGGCCTGCTTGTCAAAAGAATGTGTTCTACGAAGGGTGATAAAACAATATCTGGGTCCAGGTGAAATGCTGGGGTCACCTGCCACATGTAAGGGAGAAAAACAATGCTCTGTTACATTTCCCATCAGGTAATGATGGAGAACCATGCATGTCTTCATTTAGCAAAATAGCTGAAGCTTCTTTTCATGTCTTCAGGATGGTCCATGAGTTAACTCCAAGGCTCACTTATGGTATTGCGAAGAGCCCAGAAAAAAAAAATTCTCTGTTTAAAAGCCTTCCTTCAACAGCTCCATAGTTACTTTAAAAATGCAAACTTTAACATCCCTCCCTGTCTAACTCTATATTCGACACTCCCCTTATTTCACCTCCTTCGCAACTTGCCTGCTTCACAAGTTGGTCATGCGTTACCTTCTCCAGAAGGCTTTCCTGCAGTGTGACCCTCCTATATATTTATTTAATGTTTATTGGGAGCCTAATACTGTACATGGAGGTACTGTCCTAGTGCCAGGACACTGTTTTGTTTGCTTGTTTTGTTTACTACTAAACAAAACAGTCAAGATTCCTCTCTTAATGAGGCCGACTAAAGAGAAAAAATAAAAACAAATGTAAACACACTCTGATGTCACTGCAATGAAAAAGGAAAATAAAGTAGGGTAAAAGGGTGAGGGTTCTGAGAGTGGGTGTGTGGTTGTGGGTGTGTAAGTGCATGATTGTGTGTGAGGGTGAGGGGGTAAATGTGTGAGTGGCCATGAGTGATTGTGTGGGCATGAATCTGTTGTGTAAGAGTGTGAGTGTGTGTATGAATGTGAGCTATTTGTGAGTGAGTTTGTGTATGTGTATGAGTGTGATTGAACACGCATGCTTGTGTTAATAATGTGTGGGTGATAAGCAGAAAGAGGGAGAGATTGGTTTTGCGTAGTGTGGTAGGAGAAGACATTCTTTAGAAAAAGGAATCTAAAATGACTGAGGAAGACAATGACGTGCATATCTGCAGGATAAAAACTACCAGCCAGGTGATTAGCAAATGGCAAAAACCCTAAGGTGAGAAGATCCTGAATACTTGCAGAGGAGCAAGAGGAGGAGAGTGACTACAGCCTTCTGGTGAGAGAGAAGGGCTGTAAGGAAGTGGAGGCCAAATTGCGTAAAATAGACCATTGTGGGGAATGGAAAAGACTTCAGGTTTTGTTTAAACTTGGGGAAATCACTGGAAGGTTTGCACTAAGTAGCTAAGATTCAACATTATCTTATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTATGTGGATTTTGTCCAAATCTCATTCAAGTTCACGGCAGTGAAACCAGTAAAACCAGTACAGTAGCAATGTAACTTTACTATATGATTGTCTATGACCAAGGGCAGTAAAGGCTGCCTGCTAATAATTCTGCTTGACCTTTCTTTTCCAGCTCACCAGACAATCGTACAGTGTGGATAATGGAGCATGCAGCTCTTTGAATGTTATATGAGCCTCAGGCTTATTGAGGATGCTGAACTTGTGCCCGGCCAGGCAAAAGAGTCTTGTGTAGATTCTTGCTTTTGAATTCCTTTGAGTA
Task1_train_22773
A variant found in Chromosome 16 affects CDH11 (cadherin 11). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Teebi hypertelorism syndrome 2
TTATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTATGTGGATTTTGTCCAAATCTCATTCAAGTTCACGGCAGTGAAACCAGTAAAACCAGTACAGTAGCAATGTAACTTTACTATATGATTGTCTATGACCAAGGGCAGTAAAGGCTGCCTGCTAATAATTCTGCTTGACCTTTCTTTTCCAGCTCACCAGACAATCGTACAGTGTGGATAATGGAGCATGCAGCTCTTTGAATGTTATATGAGCCTCAGGCTTATTGAGGATGCTGAACTTGTGCCCGGCCAGGCAAAAGAGTCTTGTGTAGATTCTTGCTTTTGAATTCCTTTGAGTAACCACAGTGCCTTCCTGGGGCCACATTTAGTAGCCTTCCTTGTTATCTCATTTGCAAAATGTTCCATTTCTCTGATAGTAAGCTCACAGGCTCTAACTGAAAAAGACACTTTCATGATGAACCCCCCCATGCATTAGCAGCACCAGCAGCACCACAGTCATACTGTCCATTCATACACATCTGTACATACATAGACAGACTTGTGTTCAAACTCTGACTTTGCCACATTTCTAGGGCAACTTATGCACTTTTTACGGAAACCAGTTTTATCTGTAAAATGTAGGCTCCTGCAGAGATTTACAATAGTAGTGACTATTCATTAAATGATGGTAGTTGCTATAATTACAATTATTAATAATAACCTTTCAAAATCATTGTTTTTCATTTAATTCCCTCTGCAATTTTATAAATTTTGTAGAACAGCCATAATCCCCCAGATAACAATGGCTAGAATTTGTTGACGACTTATAGACAGTTGTCATTATAAGATTTTACACTAGCTCCTTTAGTTCAAACAGTAATCCTATTAATTAGGTACTGTGGAAGACTGTATTTTCCAAAACATGGCCAAAACAATATCTCCCATCCCACATGCTTTTCCTTCAACATGACTTTGACAGGTCTTCCATTGAAAGGTGGGGTCTACATGAACTCCCCTTAGATTTGTGAGCCTTATGACTCCAGTGGAAACATTTGGTGGCTTATGACTCCAGTTTCCAGTGGAAACTTCTGAAGCTAGTTAACAAAAGGCAAGACAATTTCTGCCTGGTGCCCTTGGGGATCACACTTTCCAAAACCAGCCCACGCAGAAAGGAAGCAGCAATCAACACAAACTTGCCAGCCATGCAAGTAAGCTGGTTTGGAAGTGGATCCTCCAACCCCAGTGGAGCTATCCCCAGTTGTTGCTATGGAGAACAGAGGCATGCTGTCTCCTCCAAGCCTTGCCCAAATTCCAGACACATGATAAAAACAAATTATTGTTATTATTTTTATTGTTTTAAACCACTAAGTTTTCCAGCAATTTGTTACACAGTAATTGATAACTGATTCAGGGACTGTTATATCCAGGTTAGAAATGAGGACACTGAGGCAGAAAAGGGTTAATTAATTACTAGATTGCATCACTACTACCAAGCAAAATACTTAGCAAAAACGATATTTTGTTTCCAGGGTTGTAGAACTTTTTACATCTTTTCATTCTCCTACTACCTCTACTCCCCGACATTGTTGTTGTTGTTGTTGTCTTGTTTTTGTGTTTTGTTTTTGTAAGAATGATATGAATTGCCCTTAGTTTTCTAGATTTTCTTTTTGATACCTCAGTAAAGCAGGAATAGGTTAGAGGAGGGAGAGAGCTGGCTGTGTCACCATGGAAAAGTGAAAGCCAAGTCCACCTACTTACTCTGCGGAAACTTTGGTGGGTTGTCATTGACATCGGTCAGTGTGATCGTCACTTTGGTTGTCCCTGAGAGTCCGCCCATATGTCCACCCATGTCCTTGGCCTGGATCACCACGTGGTACTCCTCCTTGGCCTCCCTGTCCATGTTGGGTAGGGCTGTTCTGATGATACCTGGACAGGTAAGCAGGCAACATCACAGATATTCGTTTATAACATTATGACAACAAGAAAGTTCTGAGCACTGAGGAAGCAATGCTGAATAAAATATCCCATGCCCTCAGCAAGAATCATTTCAACATGGTAATTACAACCAAAGGCAGCCATACTGAAGCATCATTATGTCTTTTCAAGCAAATCATAAAAATTACTATACAGCATTTGTATTTATGTTTTGTTGTACATTCAAGTAATAACCCTATTCTTCTCAGATATAAACACCCTAAAGACTGAAATACTTGAGTGGTCATTGCATGAATATCCATGACTAAACTCATACTTTTTGACTTCCAGCACAATCTTCTGTAAGTCTATTGCTACATACAATTCATGGAAATGTTTTGATGGTGCATATTAAGTTTAAAGCAGGAGGTGCATATTTCATGCAATACATTAAAGTGTAAATATTAATTTTTAAAAGAGTGAACCAAATCGGTTAAAATATATACAATGCTCATATAAGCACATACTGTCTATTATCACCTGTCACGGAAAACAATGATAAATTAATAACTGAATTCTGCATGATTGCTGGATATTGGCACATGAGTGCCATGCTCACTTAAATCTTTAGGAGACCTTTGGAAGCTTTTTCTCTCTGTAGATATGGCAACAGTTATGTGAGGAATATAGAGAGCACTGTGGAAGACTTAGTCCTTATTGCTCTCTTACTTCTGATATTAAAGTTGAGTTTTTAGATTATAGTTGTTATTGGGTCATCGTGAAATATGGGAAAACCAACAATAAATGTTTCATGGTGTACTAACTGTGTGATAGGCACAGGCCAAGTATCTAATCCTCACACTAACCCTATAGGGTAGCCCTCTGTATTCCTTTTTCATATTTGAGAAAACAGAGTATTAAATAAGTTCTGGTCAGGCCTGGGACTTCTTATTCACCATGTGTCACAAATCACAGTGACATTCCACAGTACCTGTCTGTGCTTCCACCGAAAAATAGGGTTGTCCTTCGAGGATACTGTACACTAACTTGGCGCTATTTCCATAAGTGGGGTCATCTGCATCTGAAGCTGTCACCTGGATTACTGACGTTCCTTAAAAGTGAAATAAATTAATTAGCAACATCTCCTCAGATTTTCAAATTATGTTCTTGTTTACAAAGTTTTATTCTAAAATTAACCCTGAAGAAGGCACCACAATTATTCAACATTCTCTCATTTTCCTGGAGTTGAGATGCAAAATAACCAGCCAACCAACCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTGCTCTATAAAAATGGCCACAGTTTAAAAATGAACTTTCTGTATTTATAGTACATCCTACATTGGTTGGTGATTAAAATAATATTATAAATATTATTGCAAAAATATCTTACAACTCATGCACTTGAAATGTTCAGTATATCAAATAATTACATTAAAATCTTCCCAGAGTATAATAAATGATAATTAACGATAAATTGCTTTCAGGAAAGGACAGAGTGCAATCTTCCATCTGTAGCAGAACAATAAATACATCATTTTATTGTTGCTTTGCATGTAATAAAATTGCTGCTAATTCTACAATTTAATTAATTTATGGCCATAAATACTGAGCAGAATGCTGTTCCCTACTGGCATGAAAATTGCATCTTCCCACCTGTAGCTGGTCTGGTAGCCATATAACAGAAATCACCAGTAAACATCTGGTGAGAGGTAAGGGAAGCATTCATGGGTCAGAACGAAGGGAAACCAGGAAATTGAAGAAAGATGGGGTTCTGCTTTTCCTAAAAACAACCTTTGTTCCTGGCTGGTCACAAATAGCAAGTATCTGGGGCATGGCATGTTGGGCTTCAGAGTGGGGAGAGAGGAGCTGGAAGAAGAAAACCAGTAATTA
TTATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTATGTGGATTTTGTCCAAATCTCATTCAAGTTCACGGCAGTGAAACCAGTAAAACCAGTACAGTAGCAATGTAACTTTACTATATGATTGTCTATGACCAAGGGCAGTAAAGGCTGCCTGCTAATAATTCTGCTTGACCTTTCTTTTCCAGCTCACCAGACAATCGTACAGTGTGGATAATGGAGCATGCAGCTCTTTGAATGTTATATGAGCCTCAGGCTTATTGAGGATGCTGAACTTGTGCCCGGCCAGGCAAAAGAGTCTTGTGTAGATTCTTGCTTTTGAATTCCTTTGAGTAACCACAGTGCCTTCCTGGGGCCACATTTAGTAGCCTTCCTTGTTATCTCATTTGCAAAATGTTCCATTTCTCTGATAGTAAGCTCACAGGCTCTAACTGAAAAAGACACTTTCATGATGAACCCCCCCATGCATTAGCAGCACCAGCAGCACCACAGTCATACTGTCCATTCATACACATCTGTACATACATAGACAGACTTGTGTTCAAACTCTGACTTTGCCACATTTCTAGGGCAACTTATGCACTTTTTACGGAAACCAGTTTTATCTGTAAAATGTAGGCTCCTGCAGAGATTTACAATAGTAGTGACTATTCATTAAATGATGGTAGTTGCTATAATTACAATTATTAATAATAACCTTTCAAAATCATTGTTTTTCATTTAATTCCCTCTGCAATTTTATAAATTTTGTAGAACAGCCATAATCCCCCAGATAACAATGGCTAGAATTTGTTGACGACTTATAGACAGTTGTCATTATAAGATTTTACACTAGCTCCTTTAGTTCAAACAGTAATCCTATTAATTAGGTACTGTGGAAGACTGTATTTTCCAAAACATGGCCAAAACAATATCTCCCATCCCACATGCTTTTCCTTCAACATGACTTTGACAGGTCTTCCATTGAAAGGTGGGGTCTACATGAACTCCCCTTAGATTTGTGAGCCTTATGACTCCAGTGGAAACATTTGGTGGCTTATGACTCCAGTTTCCAGTGGAAACTTCTGAAGCTAGTTAACAAAAGGCAAGACAATTTCTGCCTGGTGCCCTTGGGGATCACACTTTCCAAAACCAGCCCACGCAGAAAGGAAGCAGCAATCAACACAAACTTGCCAGCCATGCAAGTAAGCTGGTTTGGAAGTGGATCCTCCAACCCCAGTGGAGCTATCCCCAGTTGTTGCTATGGAGAACAGAGGCATGCTGTCTCCTCCAAGCCTTGCCCAAATTCCAGACACATGATAAAAACAAATTATTGTTATTATTTTTATTGTTTTAAACCACTAAGTTTTCCAGCAATTTGTTACACAGTAATTGATAACTGATTCAGGGACTGTTATATCCAGGTTAGAAATGAGGACACTGAGGCAGAAAAGGGTTAATTAATTACTAGATTGCATCACTACTACCAAGCAAAATACTTAGCAAAAACGATATTTTGTTTCCAGGGTTGTAGAACTTTTTACATCTTTTCATTCTCCTACTACCTCTACTCCCCGACATTGTTGTTGTTGTTGTTGTCTTGTTTTTGTGTTTTGTTTTTGTAAGAATGATATGAATTGCCCTTAGTTTTCTAGATTTTCTTTTTGATACCTCAGTAAAGCAGGAATAGGTTAGAGGAGGGAGAGAGCTGGCTGTGTCACCATGGAAAAGTGAAAGCCAAGTCCACCTACTTACTCTGCGGAAACTTTGGTGGGTTGTCATTGACTTCGGTCAGTGTGATCGTCACTTTGGTTGTCCCTGAGAGTCCGCCCATATGTCCACCCATGTCCTTGGCCTGGATCACCACGTGGTACTCCTCCTTGGCCTCCCTGTCCATGTTGGGTAGGGCTGTTCTGATGATACCTGGACAGGTAAGCAGGCAACATCACAGATATTCGTTTATAACATTATGACAACAAGAAAGTTCTGAGCACTGAGGAAGCAATGCTGAATAAAATATCCCATGCCCTCAGCAAGAATCATTTCAACATGGTAATTACAACCAAAGGCAGCCATACTGAAGCATCATTATGTCTTTTCAAGCAAATCATAAAAATTACTATACAGCATTTGTATTTATGTTTTGTTGTACATTCAAGTAATAACCCTATTCTTCTCAGATATAAACACCCTAAAGACTGAAATACTTGAGTGGTCATTGCATGAATATCCATGACTAAACTCATACTTTTTGACTTCCAGCACAATCTTCTGTAAGTCTATTGCTACATACAATTCATGGAAATGTTTTGATGGTGCATATTAAGTTTAAAGCAGGAGGTGCATATTTCATGCAATACATTAAAGTGTAAATATTAATTTTTAAAAGAGTGAACCAAATCGGTTAAAATATATACAATGCTCATATAAGCACATACTGTCTATTATCACCTGTCACGGAAAACAATGATAAATTAATAACTGAATTCTGCATGATTGCTGGATATTGGCACATGAGTGCCATGCTCACTTAAATCTTTAGGAGACCTTTGGAAGCTTTTTCTCTCTGTAGATATGGCAACAGTTATGTGAGGAATATAGAGAGCACTGTGGAAGACTTAGTCCTTATTGCTCTCTTACTTCTGATATTAAAGTTGAGTTTTTAGATTATAGTTGTTATTGGGTCATCGTGAAATATGGGAAAACCAACAATAAATGTTTCATGGTGTACTAACTGTGTGATAGGCACAGGCCAAGTATCTAATCCTCACACTAACCCTATAGGGTAGCCCTCTGTATTCCTTTTTCATATTTGAGAAAACAGAGTATTAAATAAGTTCTGGTCAGGCCTGGGACTTCTTATTCACCATGTGTCACAAATCACAGTGACATTCCACAGTACCTGTCTGTGCTTCCACCGAAAAATAGGGTTGTCCTTCGAGGATACTGTACACTAACTTGGCGCTATTTCCATAAGTGGGGTCATCTGCATCTGAAGCTGTCACCTGGATTACTGACGTTCCTTAAAAGTGAAATAAATTAATTAGCAACATCTCCTCAGATTTTCAAATTATGTTCTTGTTTACAAAGTTTTATTCTAAAATTAACCCTGAAGAAGGCACCACAATTATTCAACATTCTCTCATTTTCCTGGAGTTGAGATGCAAAATAACCAGCCAACCAACCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTGCTCTATAAAAATGGCCACAGTTTAAAAATGAACTTTCTGTATTTATAGTACATCCTACATTGGTTGGTGATTAAAATAATATTATAAATATTATTGCAAAAATATCTTACAACTCATGCACTTGAAATGTTCAGTATATCAAATAATTACATTAAAATCTTCCCAGAGTATAATAAATGATAATTAACGATAAATTGCTTTCAGGAAAGGACAGAGTGCAATCTTCCATCTGTAGCAGAACAATAAATACATCATTTTATTGTTGCTTTGCATGTAATAAAATTGCTGCTAATTCTACAATTTAATTAATTTATGGCCATAAATACTGAGCAGAATGCTGTTCCCTACTGGCATGAAAATTGCATCTTCCCACCTGTAGCTGGTCTGGTAGCCATATAACAGAAATCACCAGTAAACATCTGGTGAGAGGTAAGGGAAGCATTCATGGGTCAGAACGAAGGGAAACCAGGAAATTGAAGAAAGATGGGGTTCTGCTTTTCCTAAAAACAACCTTTGTTCCTGGCTGGTCACAAATAGCAAGTATCTGGGGCATGGCATGTTGGGCTTCAGAGTGGGGAGAGAGGAGCTGGAAGAAGAAAACCAGTAATTA
Task1_train_22774
A variant affecting Chromosome 16, within the gene CDH11 (cadherin 11), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Elsahy-Waters syndrome
ATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTATGTGGATTTTGTCCAAATCTCATTCAAGTTCACGGCAGTGAAACCAGTAAAACCAGTACAGTAGCAATGTAACTTTACTATATGATTGTCTATGACCAAGGGCAGTAAAGGCTGCCTGCTAATAATTCTGCTTGACCTTTCTTTTCCAGCTCACCAGACAATCGTACAGTGTGGATAATGGAGCATGCAGCTCTTTGAATGTTATATGAGCCTCAGGCTTATTGAGGATGCTGAACTTGTGCCCGGCCAGGCAAAAGAGTCTTGTGTAGATTCTTGCTTTTGAATTCCTTTGAGTAACCACAGTGCCTTCCTGGGGCCACATTTAGTAGCCTTCCTTGTTATCTCATTTGCAAAATGTTCCATTTCTCTGATAGTAAGCTCACAGGCTCTAACTGAAAAAGACACTTTCATGATGAACCCCCCCATGCATTAGCAGCACCAGCAGCACCACAGTCATACTGTCCATTCATACACATCTGTACATACATAGACAGACTTGTGTTCAAACTCTGACTTTGCCACATTTCTAGGGCAACTTATGCACTTTTTACGGAAACCAGTTTTATCTGTAAAATGTAGGCTCCTGCAGAGATTTACAATAGTAGTGACTATTCATTAAATGATGGTAGTTGCTATAATTACAATTATTAATAATAACCTTTCAAAATCATTGTTTTTCATTTAATTCCCTCTGCAATTTTATAAATTTTGTAGAACAGCCATAATCCCCCAGATAACAATGGCTAGAATTTGTTGACGACTTATAGACAGTTGTCATTATAAGATTTTACACTAGCTCCTTTAGTTCAAACAGTAATCCTATTAATTAGGTACTGTGGAAGACTGTATTTTCCAAAACATGGCCAAAACAATATCTCCCATCCCACATGCTTTTCCTTCAACATGACTTTGACAGGTCTTCCATTGAAAGGTGGGGTCTACATGAACTCCCCTTAGATTTGTGAGCCTTATGACTCCAGTGGAAACATTTGGTGGCTTATGACTCCAGTTTCCAGTGGAAACTTCTGAAGCTAGTTAACAAAAGGCAAGACAATTTCTGCCTGGTGCCCTTGGGGATCACACTTTCCAAAACCAGCCCACGCAGAAAGGAAGCAGCAATCAACACAAACTTGCCAGCCATGCAAGTAAGCTGGTTTGGAAGTGGATCCTCCAACCCCAGTGGAGCTATCCCCAGTTGTTGCTATGGAGAACAGAGGCATGCTGTCTCCTCCAAGCCTTGCCCAAATTCCAGACACATGATAAAAACAAATTATTGTTATTATTTTTATTGTTTTAAACCACTAAGTTTTCCAGCAATTTGTTACACAGTAATTGATAACTGATTCAGGGACTGTTATATCCAGGTTAGAAATGAGGACACTGAGGCAGAAAAGGGTTAATTAATTACTAGATTGCATCACTACTACCAAGCAAAATACTTAGCAAAAACGATATTTTGTTTCCAGGGTTGTAGAACTTTTTACATCTTTTCATTCTCCTACTACCTCTACTCCCCGACATTGTTGTTGTTGTTGTTGTCTTGTTTTTGTGTTTTGTTTTTGTAAGAATGATATGAATTGCCCTTAGTTTTCTAGATTTTCTTTTTGATACCTCAGTAAAGCAGGAATAGGTTAGAGGAGGGAGAGAGCTGGCTGTGTCACCATGGAAAAGTGAAAGCCAAGTCCACCTACTTACTCTGCGGAAACTTTGGTGGGTTGTCATTGACATCGGTCAGTGTGATCGTCACTTTGGTTGTCCCTGAGAGTCCGCCCATATGTCCACCCATGTCCTTGGCCTGGATCACCACGTGGTACTCCTCCTTGGCCTCCCTGTCCATGTTGGGTAGGGCTGTTCTGATGATACCTGGACAGGTAAGCAGGCAACATCACAGATATTCGTTTATAACATTATGACAACAAGAAAGTTCTGAGCACTGAGGAAGCAATGCTGAATAAAATATCCCATGCCCTCAGCAAGAATCATTTCAACATGGTAATTACAACCAAAGGCAGCCATACTGAAGCATCATTATGTCTTTTCAAGCAAATCATAAAAATTACTATACAGCATTTGTATTTATGTTTTGTTGTACATTCAAGTAATAACCCTATTCTTCTCAGATATAAACACCCTAAAGACTGAAATACTTGAGTGGTCATTGCATGAATATCCATGACTAAACTCATACTTTTTGACTTCCAGCACAATCTTCTGTAAGTCTATTGCTACATACAATTCATGGAAATGTTTTGATGGTGCATATTAAGTTTAAAGCAGGAGGTGCATATTTCATGCAATACATTAAAGTGTAAATATTAATTTTTAAAAGAGTGAACCAAATCGGTTAAAATATATACAATGCTCATATAAGCACATACTGTCTATTATCACCTGTCACGGAAAACAATGATAAATTAATAACTGAATTCTGCATGATTGCTGGATATTGGCACATGAGTGCCATGCTCACTTAAATCTTTAGGAGACCTTTGGAAGCTTTTTCTCTCTGTAGATATGGCAACAGTTATGTGAGGAATATAGAGAGCACTGTGGAAGACTTAGTCCTTATTGCTCTCTTACTTCTGATATTAAAGTTGAGTTTTTAGATTATAGTTGTTATTGGGTCATCGTGAAATATGGGAAAACCAACAATAAATGTTTCATGGTGTACTAACTGTGTGATAGGCACAGGCCAAGTATCTAATCCTCACACTAACCCTATAGGGTAGCCCTCTGTATTCCTTTTTCATATTTGAGAAAACAGAGTATTAAATAAGTTCTGGTCAGGCCTGGGACTTCTTATTCACCATGTGTCACAAATCACAGTGACATTCCACAGTACCTGTCTGTGCTTCCACCGAAAAATAGGGTTGTCCTTCGAGGATACTGTACACTAACTTGGCGCTATTTCCATAAGTGGGGTCATCTGCATCTGAAGCTGTCACCTGGATTACTGACGTTCCTTAAAAGTGAAATAAATTAATTAGCAACATCTCCTCAGATTTTCAAATTATGTTCTTGTTTACAAAGTTTTATTCTAAAATTAACCCTGAAGAAGGCACCACAATTATTCAACATTCTCTCATTTTCCTGGAGTTGAGATGCAAAATAACCAGCCAACCAACCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTGCTCTATAAAAATGGCCACAGTTTAAAAATGAACTTTCTGTATTTATAGTACATCCTACATTGGTTGGTGATTAAAATAATATTATAAATATTATTGCAAAAATATCTTACAACTCATGCACTTGAAATGTTCAGTATATCAAATAATTACATTAAAATCTTCCCAGAGTATAATAAATGATAATTAACGATAAATTGCTTTCAGGAAAGGACAGAGTGCAATCTTCCATCTGTAGCAGAACAATAAATACATCATTTTATTGTTGCTTTGCATGTAATAAAATTGCTGCTAATTCTACAATTTAATTAATTTATGGCCATAAATACTGAGCAGAATGCTGTTCCCTACTGGCATGAAAATTGCATCTTCCCACCTGTAGCTGGTCTGGTAGCCATATAACAGAAATCACCAGTAAACATCTGGTGAGAGGTAAGGGAAGCATTCATGGGTCAGAACGAAGGGAAACCAGGAAATTGAAGAAAGATGGGGTTCTGCTTTTCCTAAAAACAACCTTTGTTCCTGGCTGGTCACAAATAGCAAGTATCTGGGGCATGGCATGTTGGGCTTCAGAGTGGGGAGAGAGGAGCTGGAAGAAGAAAACCAGTAATTATC
ATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTATGTGGATTTTGTCCAAATCTCATTCAAGTTCACGGCAGTGAAACCAGTAAAACCAGTACAGTAGCAATGTAACTTTACTATATGATTGTCTATGACCAAGGGCAGTAAAGGCTGCCTGCTAATAATTCTGCTTGACCTTTCTTTTCCAGCTCACCAGACAATCGTACAGTGTGGATAATGGAGCATGCAGCTCTTTGAATGTTATATGAGCCTCAGGCTTATTGAGGATGCTGAACTTGTGCCCGGCCAGGCAAAAGAGTCTTGTGTAGATTCTTGCTTTTGAATTCCTTTGAGTAACCACAGTGCCTTCCTGGGGCCACATTTAGTAGCCTTCCTTGTTATCTCATTTGCAAAATGTTCCATTTCTCTGATAGTAAGCTCACAGGCTCTAACTGAAAAAGACACTTTCATGATGAACCCCCCCATGCATTAGCAGCACCAGCAGCACCACAGTCATACTGTCCATTCATACACATCTGTACATACATAGACAGACTTGTGTTCAAACTCTGACTTTGCCACATTTCTAGGGCAACTTATGCACTTTTTACGGAAACCAGTTTTATCTGTAAAATGTAGGCTCCTGCAGAGATTTACAATAGTAGTGACTATTCATTAAATGATGGTAGTTGCTATAATTACAATTATTAATAATAACCTTTCAAAATCATTGTTTTTCATTTAATTCCCTCTGCAATTTTATAAATTTTGTAGAACAGCCATAATCCCCCAGATAACAATGGCTAGAATTTGTTGACGACTTATAGACAGTTGTCATTATAAGATTTTACACTAGCTCCTTTAGTTCAAACAGTAATCCTATTAATTAGGTACTGTGGAAGACTGTATTTTCCAAAACATGGCCAAAACAATATCTCCCATCCCACATGCTTTTCCTTCAACATGACTTTGACAGGTCTTCCATTGAAAGGTGGGGTCTACATGAACTCCCCTTAGATTTGTGAGCCTTATGACTCCAGTGGAAACATTTGGTGGCTTATGACTCCAGTTTCCAGTGGAAACTTCTGAAGCTAGTTAACAAAAGGCAAGACAATTTCTGCCTGGTGCCCTTGGGGATCACACTTTCCAAAACCAGCCCACGCAGAAAGGAAGCAGCAATCAACACAAACTTGCCAGCCATGCAAGTAAGCTGGTTTGGAAGTGGATCCTCCAACCCCAGTGGAGCTATCCCCAGTTGTTGCTATGGAGAACAGAGGCATGCTGTCTCCTCCAAGCCTTGCCCAAATTCCAGACACATGATAAAAACAAATTATTGTTATTATTTTTATTGTTTTAAACCACTAAGTTTTCCAGCAATTTGTTACACAGTAATTGATAACTGATTCAGGGACTGTTATATCCAGGTTAGAAATGAGGACACTGAGGCAGAAAAGGGTTAATTAATTACTAGATTGCATCACTACTACCAAGCAAAATACTTAGCAAAAACGATATTTTGTTTCCAGGGTTGTAGAACTTTTTACATCTTTTCATTCTCCTACTACCTCTACTCCCCGACATTGTTGTTGTTGTTGTTGTCTTGTTTTTGTGTTTTGTTTTTGTAAGAATGATATGAATTGCCCTTAGTTTTCTAGATTTTCTTTTTGATACCTCAGTAAAGCAGGAATAGGTTAGAGGAGGGAGAGAGCTGGCTGTGTCACCATGGAAAAGTGAAAGCCAAGTCCACCTACTTACTCTGCGGAAACTTTGGTGGGTTGTCATTGACATTGGTCAGTGTGATCGTCACTTTGGTTGTCCCTGAGAGTCCGCCCATATGTCCACCCATGTCCTTGGCCTGGATCACCACGTGGTACTCCTCCTTGGCCTCCCTGTCCATGTTGGGTAGGGCTGTTCTGATGATACCTGGACAGGTAAGCAGGCAACATCACAGATATTCGTTTATAACATTATGACAACAAGAAAGTTCTGAGCACTGAGGAAGCAATGCTGAATAAAATATCCCATGCCCTCAGCAAGAATCATTTCAACATGGTAATTACAACCAAAGGCAGCCATACTGAAGCATCATTATGTCTTTTCAAGCAAATCATAAAAATTACTATACAGCATTTGTATTTATGTTTTGTTGTACATTCAAGTAATAACCCTATTCTTCTCAGATATAAACACCCTAAAGACTGAAATACTTGAGTGGTCATTGCATGAATATCCATGACTAAACTCATACTTTTTGACTTCCAGCACAATCTTCTGTAAGTCTATTGCTACATACAATTCATGGAAATGTTTTGATGGTGCATATTAAGTTTAAAGCAGGAGGTGCATATTTCATGCAATACATTAAAGTGTAAATATTAATTTTTAAAAGAGTGAACCAAATCGGTTAAAATATATACAATGCTCATATAAGCACATACTGTCTATTATCACCTGTCACGGAAAACAATGATAAATTAATAACTGAATTCTGCATGATTGCTGGATATTGGCACATGAGTGCCATGCTCACTTAAATCTTTAGGAGACCTTTGGAAGCTTTTTCTCTCTGTAGATATGGCAACAGTTATGTGAGGAATATAGAGAGCACTGTGGAAGACTTAGTCCTTATTGCTCTCTTACTTCTGATATTAAAGTTGAGTTTTTAGATTATAGTTGTTATTGGGTCATCGTGAAATATGGGAAAACCAACAATAAATGTTTCATGGTGTACTAACTGTGTGATAGGCACAGGCCAAGTATCTAATCCTCACACTAACCCTATAGGGTAGCCCTCTGTATTCCTTTTTCATATTTGAGAAAACAGAGTATTAAATAAGTTCTGGTCAGGCCTGGGACTTCTTATTCACCATGTGTCACAAATCACAGTGACATTCCACAGTACCTGTCTGTGCTTCCACCGAAAAATAGGGTTGTCCTTCGAGGATACTGTACACTAACTTGGCGCTATTTCCATAAGTGGGGTCATCTGCATCTGAAGCTGTCACCTGGATTACTGACGTTCCTTAAAAGTGAAATAAATTAATTAGCAACATCTCCTCAGATTTTCAAATTATGTTCTTGTTTACAAAGTTTTATTCTAAAATTAACCCTGAAGAAGGCACCACAATTATTCAACATTCTCTCATTTTCCTGGAGTTGAGATGCAAAATAACCAGCCAACCAACCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTGCTCTATAAAAATGGCCACAGTTTAAAAATGAACTTTCTGTATTTATAGTACATCCTACATTGGTTGGTGATTAAAATAATATTATAAATATTATTGCAAAAATATCTTACAACTCATGCACTTGAAATGTTCAGTATATCAAATAATTACATTAAAATCTTCCCAGAGTATAATAAATGATAATTAACGATAAATTGCTTTCAGGAAAGGACAGAGTGCAATCTTCCATCTGTAGCAGAACAATAAATACATCATTTTATTGTTGCTTTGCATGTAATAAAATTGCTGCTAATTCTACAATTTAATTAATTTATGGCCATAAATACTGAGCAGAATGCTGTTCCCTACTGGCATGAAAATTGCATCTTCCCACCTGTAGCTGGTCTGGTAGCCATATAACAGAAATCACCAGTAAACATCTGGTGAGAGGTAAGGGAAGCATTCATGGGTCAGAACGAAGGGAAACCAGGAAATTGAAGAAAGATGGGGTTCTGCTTTTCCTAAAAACAACCTTTGTTCCTGGCTGGTCACAAATAGCAAGTATCTGGGGCATGGCATGTTGGGCTTCAGAGTGGGGAGAGAGGAGCTGGAAGAAGAAAACCAGTAATTATC
Task1_train_22775
Here’s a variant in CDH11 (cadherin 11) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Teebi hypertelorism syndrome 2
TATGTCAATTATGTGAACATGAAGTGCTGTTCTCATGTAAAAGAACAATTAAGATAACTTCGTAGAAATCAGTAGGGTTCAGAAACCCCTCAAACCTATTCTCTTTCCCCTTTACCTTCCACTGGATAATTCCTGTTCATCTTTTAGGTTACAGGTTATTCCCATGTTGTCCTTGAAACCTTCCTTTGACATCCCTCCCAAATATTACCATGTAAATTCATAATCATTTACATTGAATGTCCTCATTATTCTATTATTCATTTTCTTTTTTTCTTTTTTTTTTTTTAATTGCTTAGGTAACTGTCTCTTTTCCACTAGACCTCTTTGAGGTTAGGAGCTATCTTAATCTAGTTTACATTTTGCCTAGCACGGCAGCTGCTCCACATGATAGGATTTCAGTTCTTATGTATCTAAGGATCTATCTTTGTTTTTTTTTTTTTTGAGATGGAGGCCTTTGTCTCATAATAATAATTTAAACTTAAATAATAAAAATACTTTAACAAAAATGAGAAAATGGCATTAGTAATAAATAATACTATTAATATTGTTAATATTAACTGGCATTGTTAATAATCATCTTTTTTATTATTTATTTATTTATTTATTCATTCATTTTTTGAGACAGAGTCTCACTCTGTCTCCCAGGCTGGAGTACAGTGGCACATCTTGGCTTACTGCAACAACTCCTTCCCATGTTCAAGCGATTCCCCTGCCTCAGCCTCTGGAGTAGTTGGGATTACAGGCACTCACCACCACGCCTGGCTAATATTTGTGTTGTTAGTAGAGACGGGGTTTCACCATACTGGGCAGGCTGGTCTTGAACTCCTGACATCCCGTGATTCACCTGCCTCAGCCTCCCAGAGAACTAGGATTACAGGTGTGAGCCACTGTGCTGGCCGCACATATCTTTTTGCAGTTTTAATGTCACTATCATCTGAAAGATAACTGTACATTTTACTCAAATGCTAGTGGGTAGGTAATTTTCCAAACTCTCTTGAATTTGTATTTTGGACCCTCTTTCTACACTTGCACTTTTCTGGAAGGGATACACAGAGACCACAGAGCCTGGAATGGGAAGTCATCTCACTGGGTTTTACCATGCCTGTGGAAACAGGGATAAAACCACACCCAAGCTTCTGGTACATATTCATTCAGCTCTTCAAAGCTGGGTCTAGCATCAGGACATAAGTACACAAGGATGACACTGCCCTTGACACAAAGTAGCTTGAAGTCTAGTGAAGTAGACAGATTAATAAGTAGATACACTGAATACAAAAAGCAAAGCTATGATAAAGGGTCCAAAGGAGGAGCATTCAAGTTGGGATTAGGGTGTGGTCAGGGAAATGCCTCCAGCTGGAAAATGGTTAAATAAATTATGGCTATGTGCATTTAATGGGCTATTATGCAGCCATTCAAAATGGAGTTTGAGCCTGGCGTAGTGGCTCAGGCCTGCAGTCCCAGCACTTTGGGAGGCTGATGAGGGAGGATCACTTAGGTCAGAGGTTTGAAGCCAACCTGGGCAACACAGCAAGACCTTTTCTCTAAAAAAATGAAATAAAATACAGATTAGCCAGGCATGGTGGCATGAACCTGTAGTCCCAGCTACTCAGGAGGCTAAAGCAGGAGGATCCCTTGAGCCCAGGAGTTTGAGATTACAGTGAGCTATGATCACACTACTGCATGCCAGTCTGGGCAACAGAGAGAGACCCCATATCTAAATAATATGGTAAATGAGTTTTATGATATAACTCCCTAAAACTAAATGGAAAAACCTAAGAAGTATTCTCAACATGGATAAGTCTATTATTTTTTTTAAAAGTCTGGAATAACATATTATGTACAATATTTGGGTGGTTTTACTGGCTCTTCAAGCCATTGGTGTTTTCTCTCTTAGATGCCTGTGGGCCTTTTGCTTCTTTCTGGCCACAGACGACTATTCCAATGGTGGGTTGGAAAGCTCAGGATTGAGGGAAGGCAGCCTTACCCTGCCCACAAGCACGGGGTCAGGCCCGGTGTACTCCTCTATCACGAAGAACTGGTTCCAGACCCAGCCACGCTTGGAGCGCTGTAGCACCTGCCCCTCCTTGCCCTTCTCATGGTGCCCATGGAAGGAGGGCCGCAGGTGCCCCCGCCGCTCTGGGGCAAAGGCATGGCTGTGGCACAGCATGCCCAGGCACACCAGGGCGGCTTGTAAACAGTAGTTCTCCTTCATTTTTGGTTACGTGGTAGGCACAGGAGAATGCAGCTGTCACCCCTTCCACCAACTGTACGGTGGTCTTGCTGAGGGTGGCCTCCCGGACGCGTCACGCAGACCTCTCTTGGGATGGAATGTCTCTGCTGGTTGAGCTCATCACGTCAGGGCTGCCCACGTCCCCAGTTAGCTTCTGCAAGCAGAGAGAGGTTGGATTAACTGCAGGCCAAATCCCCACTTCATTTCCATTCCTTTCAGTAAGCCTTCAGGACTGGGCATGAGTTTATCACGTGGGAGCTACGGGCTTTGGGGAAGCTCACTGACTGCTTTGAGCTCAGCTTGCTCATTTATGAAGTGGGGATAAGAGTGTACCCAGTACAAAGCTGTCACTGGGATTCACTGAGTAATGCATATAAGTCTCTTAGCACAATGCCTGGTACATAGTAAGCACTCCATATTTATCTGTTATAATTGATCAAAATTGTGCTTAGATATGATTTTGTAATAAGAAAACGGGGAATTAAAGGAGTCCAGATGAGGAACATATAATCCACACTGGGGTTCAGTTTAGGGAGAGGACAGATGGCTGGACTCAATCCTTTAGTGAGGTTGCTGTAATAAGAAAGGAGAGTGTGGGATTCCATGCAGAAGGAACATCACATCCAAAAGCACAGTGTGCTCCAAGATGTTCAGCATGCCTGGAGGTAGTAACGAAGAAGGCGGGCAGGCAATGGATCCTGTTAGGGAAGGGATGTAGGGGAAGATCCCAAGAAACCATTGATGGTTACTGAAATATTTACAGGAGAAATAATGGATTAAGGTCTCTTTGGTAAATCAGTTAAGGGTATAGTGTCAATTCAAGGAGGAAGATTTGCTTTTGTCTGGCAAAGATCCATCCACGAAGCCAAAGATCCTACCTTGCTTAGCCTGGAAGTCTCAGAAAGGATATTTTACAAGCTTTCACTAACTAGGAGAAGGAAAATAAAACAAAACAGTATATCCAACCAACCAGCCCAAGGTCATGTTCCCAGCACCCAGCCATGACTCAGCTACTCAACACCAGTGAGGATAAGCCAGTAATGCCTTTCACCTTTCTACACTCCTCACAGGTTTCTGAGCCACAGTCACTCTTGTCCTCTCTCCAGCACTCTGGTTCTTATTGCCAGTCCTTAACTTCTGCCTTGGGTTCTGGACTTCTTCATTGGACTTTCTCATGCTGAAAACTTATTCTTCTCTAAGGAATTCCCCTTGCTTGTTCTCCTCTCTTAGAACCATACATTTGTTTTCTGGAGAATCACCTTCTCTCTCTGGAGTGCCACCCAGACTCCAGAGAGAGAATCAGATGAGTTCACCACCAATGTGAGGGAATCTGAGAAAGTTCTTGTGCAGGAGGATGATACATTGATATTGAGGATAACATTCTGTTTCAGCACCTGGGTCTAAATGAAACTGGAAAACTTACTGAGCATTGTAGGAATCACTGTCATCACCTAATTTTTTGTTGTCTTCTTTGGGTGAAATGGTTCAGGGAAGAAGGGAGCAAGAAGGAAACAGCATGAATCTTGGCATAGTGGAAGGTACATAGACTTGGAGATCAGATGCATCTGGATCAGAATACCACTTCCATATTTTACAATCTGGGTTACTCTGGGCATGCCAATCAATCACTCTGAACCTCCATGTTTTCATGTGAATAATGAGGATGACAAGAATTGTTGCACCCATACAGGCCTGAACACAGAGTTGGGAACTGGACATGCAATAGGTTCCTTCTTCTTTTCCCAGAGTGTCACAACATAGGGGAAGATCTCAAGAAACCACTGATGGTTACTGAAATATTTACAGGAAAAATAATGGGTCAAGGTCTGATATGGTTTAGCTGTGTCCCCACCCAAATCTCATCTT
TATGTCAATTATGTGAACATGAAGTGCTGTTCTCATGTAAAAGAACAATTAAGATAACTTCGTAGAAATCAGTAGGGTTCAGAAACCCCTCAAACCTATTCTCTTTCCCCTTTACCTTCCACTGGATAATTCCTGTTCATCTTTTAGGTTACAGGTTATTCCCATGTTGTCCTTGAAACCTTCCTTTGACATCCCTCCCAAATATTACCATGTAAATTCATAATCATTTACATTGAATGTCCTCATTATTCTATTATTCATTTTCTTTTTTTCTTTTTTTTTTTTTAATTGCTTAGGTAACTGTCTCTTTTCCACTAGACCTCTTTGAGGTTAGGAGCTATCTTAATCTAGTTTACATTTTGCCTAGCACGGCAGCTGCTCCACATGATAGGATTTCAGTTCTTATGTATCTAAGGATCTATCTTTGTTTTTTTTTTTTTTGAGATGGAGGCCTTTGTCTCATAATAATAATTTAAACTTAAATAATAAAAATACTTTAACAAAAATGAGAAAATGGCATTAGTAATAAATAATACTATTAATATTGTTAATATTAACTGGCATTGTTAATAATCATCTTTTTTATTATTTATTTATTTATTTATTCATTCATTTTTTGAGACAGAGTCTCACTCTGTCTCCCAGGCTGGAGTACAGTGGCACATCTTGGCTTACTGCAACAACTCCTTCCCATGTTCAAGCGATTCCCCTGCCTCAGCCTCTGGAGTAGTTGGGATTACAGGCACTCACCACCACGCCTGGCTAATATTTGTGTTGTTAGTAGAGACGGGGTTTCACCATACTGGGCAGGCTGGTCTTGAACTCCTGACATCCCGTGATTCACCTGCCTCAGCCTCCCAGAGAACTAGGATTACAGGTGTGAGCCACTGTGCTGGCCGCACATATCTTTTTGCAGTTTTAATGTCACTATCATCTGAAAGATAACTGTACATTTTACTCAAATGCTAGTGGGTAGGTAATTTTCCAAACTCTCTTGAATTTGTATTTTGGACCCTCTTTCTACACTTGCACTTTTCTGGAAGGGATACACAGAGACCACAGAGCCTGGAATGGGAAGTCATCTCACTGGGTTTTACCATGCCTGTGGAAACAGGGATAAAACCACACCCAAGCTTCTGGTACATATTCATTCAGCTCTTCAAAGCTGGGTCTAGCATCAGGACATAAGTACACAAGGATGACACTGCCCTTGACACAAAGTAGCTTGAAGTCTAGTGAAGTAGACAGATTAATAAGTAGATACACTGAATACAAAAAGCAAAGCTATGATAAAGGGTCCAAAGGAGGAGCATTCAAGTTGGGATTAGGGTGTGGTCAGGGAAATGCCTCCAGCTGGAAAATGGTTAAATAAATTATGGCTATGTGCATTTAATGGGCTATTATGCAGCCATTCAAAATGGAGTTTGAGCCTGGCGTAGTGGCTCAGGCCTGCAGTCCCAGCACTTTGGGAGGCTGATGAGGGAGGATCACTTAGGTCAGAGGTTTGAAGCCAACCTGGGCAACACAGCAAGACCTTTTCTCTAAAAAAATGAAATAAAATACAGATTAGCCAGGCATGGTGGCATGAACCTGTAGTCCCAGCTACTCAGGAGGCTAAAGCAGGAGGATCCCTTGAGCCCAGGAGTTTGAGATTACAGTGAGCTATGATCACACTACTGCATGCCAGTCTGGGCAACAGAGAGAGACCCCATATCTAAATAATATGGTAAATGAGTTTTATGATATAACTCCCTAAAACTAAATGGAAAAACCTAAGAAGTATTCTCAACATGGATAAGTCTATTATTTTTTTTAAAAGTCTGGAATAACATATTATGTACAATATTTGGGTGGTTTTACTGGCTCTTCAAGCCATTGGTGTTTTCTCTCTTAGATGCCTGTGGGCCTTTTGCTTCTTTCTGGCCACAGACGACTATTCCAATGGTGGGTTGGAAAGCTCAGGATTGAGGGAAGGCAGCCTTACCCTGCCCACAAGCACGGGGTCAGGCCCGGTGTACTCCTCTATCACGAAGAACTGGTTCCAGACCGAGCCACGCTTGGAGCGCTGTAGCACCTGCCCCTCCTTGCCCTTCTCATGGTGCCCATGGAAGGAGGGCCGCAGGTGCCCCCGCCGCTCTGGGGCAAAGGCATGGCTGTGGCACAGCATGCCCAGGCACACCAGGGCGGCTTGTAAACAGTAGTTCTCCTTCATTTTTGGTTACGTGGTAGGCACAGGAGAATGCAGCTGTCACCCCTTCCACCAACTGTACGGTGGTCTTGCTGAGGGTGGCCTCCCGGACGCGTCACGCAGACCTCTCTTGGGATGGAATGTCTCTGCTGGTTGAGCTCATCACGTCAGGGCTGCCCACGTCCCCAGTTAGCTTCTGCAAGCAGAGAGAGGTTGGATTAACTGCAGGCCAAATCCCCACTTCATTTCCATTCCTTTCAGTAAGCCTTCAGGACTGGGCATGAGTTTATCACGTGGGAGCTACGGGCTTTGGGGAAGCTCACTGACTGCTTTGAGCTCAGCTTGCTCATTTATGAAGTGGGGATAAGAGTGTACCCAGTACAAAGCTGTCACTGGGATTCACTGAGTAATGCATATAAGTCTCTTAGCACAATGCCTGGTACATAGTAAGCACTCCATATTTATCTGTTATAATTGATCAAAATTGTGCTTAGATATGATTTTGTAATAAGAAAACGGGGAATTAAAGGAGTCCAGATGAGGAACATATAATCCACACTGGGGTTCAGTTTAGGGAGAGGACAGATGGCTGGACTCAATCCTTTAGTGAGGTTGCTGTAATAAGAAAGGAGAGTGTGGGATTCCATGCAGAAGGAACATCACATCCAAAAGCACAGTGTGCTCCAAGATGTTCAGCATGCCTGGAGGTAGTAACGAAGAAGGCGGGCAGGCAATGGATCCTGTTAGGGAAGGGATGTAGGGGAAGATCCCAAGAAACCATTGATGGTTACTGAAATATTTACAGGAGAAATAATGGATTAAGGTCTCTTTGGTAAATCAGTTAAGGGTATAGTGTCAATTCAAGGAGGAAGATTTGCTTTTGTCTGGCAAAGATCCATCCACGAAGCCAAAGATCCTACCTTGCTTAGCCTGGAAGTCTCAGAAAGGATATTTTACAAGCTTTCACTAACTAGGAGAAGGAAAATAAAACAAAACAGTATATCCAACCAACCAGCCCAAGGTCATGTTCCCAGCACCCAGCCATGACTCAGCTACTCAACACCAGTGAGGATAAGCCAGTAATGCCTTTCACCTTTCTACACTCCTCACAGGTTTCTGAGCCACAGTCACTCTTGTCCTCTCTCCAGCACTCTGGTTCTTATTGCCAGTCCTTAACTTCTGCCTTGGGTTCTGGACTTCTTCATTGGACTTTCTCATGCTGAAAACTTATTCTTCTCTAAGGAATTCCCCTTGCTTGTTCTCCTCTCTTAGAACCATACATTTGTTTTCTGGAGAATCACCTTCTCTCTCTGGAGTGCCACCCAGACTCCAGAGAGAGAATCAGATGAGTTCACCACCAATGTGAGGGAATCTGAGAAAGTTCTTGTGCAGGAGGATGATACATTGATATTGAGGATAACATTCTGTTTCAGCACCTGGGTCTAAATGAAACTGGAAAACTTACTGAGCATTGTAGGAATCACTGTCATCACCTAATTTTTTGTTGTCTTCTTTGGGTGAAATGGTTCAGGGAAGAAGGGAGCAAGAAGGAAACAGCATGAATCTTGGCATAGTGGAAGGTACATAGACTTGGAGATCAGATGCATCTGGATCAGAATACCACTTCCATATTTTACAATCTGGGTTACTCTGGGCATGCCAATCAATCACTCTGAACCTCCATGTTTTCATGTGAATAATGAGGATGACAAGAATTGTTGCACCCATACAGGCCTGAACACAGAGTTGGGAACTGGACATGCAATAGGTTCCTTCTTCTTTTCCCAGAGTGTCACAACATAGGGGAAGATCTCAAGAAACCACTGATGGTTACTGAAATATTTACAGGAAAAATAATGGGTCAAGGTCTGATATGGTTTAGCTGTGTCCCCACCCAAATCTCATCTT
Task1_train_22776
A variant was discovered on Chromosome 16, affecting TK2 (thymidine kinase 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form
AGAGCGACTCAGCAGCACAAAGCCATGGGAGAGGCACCGGGGGAATGTGAGGCTGCGAACAGCAAAGGGCTTGGCAAACCCATTGGTCCCGTTTGTCATTTACCCACGAGGGCCAGAGACGCATGACAAAGACACTAGCAAAGGAGATGAGACCATTAGGAAAATCAAGCTGGCCAGACACAAAGCCCTCCTGGGAGCAAGTTTTTCCAGATTGCTCCCAATAGCTAACTTGGCAGCAGCAGGCATTTTTCAGACATGAGCCATAGACCTTTTGCCTCCTATGGGCAATGCTTCCGATTCTCTGGAGTTAATATTCGATCCCGATTTTGTTCAAAGAGTTCTAACATCCTCTCCATGTGGTGGTCAGCCTCAATCACCTGGAAATTAGACACATGGGTCACAAGGCTGCACTGACCTCAGCAGCATCCTCCTTTCACAGCTGGAGACAGACAGATGGAAGCAGGCAGCAGGGGGCAGGGAAGGGCACAGAAGGTTGCAGGCAGATAAAAAGGAAGGTTAGAGCCAAATCGCTTTCAGCTCTAGGGCAATCTACATTTCCAATGAGGTTTTCACTTAAGAATGTACTACAAGAGCTAGGTATGGTGGCTCATGTCTATTATCCAAGCACTTTGGGAGGCTGAGACCTGAAGATTACACGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACAGTGAGACCCTGTAAGCTCATGAATGATTTGTTTTTTTCCCTCATCACTTTCTACCCTCCTTTTTTTCCATAATGAGGGAGAAAAATAAGCTGTACTTATTTAAAAATCTACTACAGTAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCCAGAATTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCTTGGCCAACGTGGCAAAATCCCATCTCTACGAAAAATATAAAAAATTATCCAGGCATGGTGGCATGCGCCTGTAGTCCCAGCTATTCAGGAGGCTGAGGCAAGAGAATCATTTGAACCCAGGAGGCAGAGGTTGCAGCGAGCCGAGATTGCGTCACTGCATTCCAGTCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAACAAACAAACAAAAAATTACTACAGTAATATCTCACTTTCCGGCAACCTCACTGCCTGCAAGAGCCATAAGCAGAAGTGTTTGAGCCCAAACAGATATTCCTATGGCCACGCACAAAAGCTCATGCACAGCCCTGCCTCACATCCCATCAAACAATGCTCCTATAGCCATGCACCAAAGCTTGCGCACAACCCTGCCTCACAGCCAATCCCATGTTGTATATGTAACCATCTTAGGTTCCCTCCAATCAAGACTCGGAGGGACCCCAGACTCCGCATTTCTTGGGAGCATCTGGGCCACTGCTTATTTGTCTGAGTAAAGAAATCTGGAAACAGCAAACTGGAAAACAAGGAGATGGGGAAGTAAGGAAATGCTGACGGGACAGACACATCAATATCAGTCAGAAATGACACATGGCAGCAAGAGAAAGGAGGATTACTGTAAAAAGTAAACACAGGAACGCAGAGACATTAGTGGGCAGGGCAGACAGTTCCACACACCTCAGCATTCCTAAGGGCATCACTGTGTGACAGCCCAGACCAGACAATGACATTCCTTCTGATGACCTGAGTCACCAAACAAAGGTGAAATGAGGCTCTGTGTCATCCACGGAAGGAGGAAGGTCACATCAGAGGAACTACTATCCCAAATGGTGAAAACTGAGACCCGGGTCTAGAGTCTTCGCTGAAGATGCTGGATCAGTGACAACTGCCAGGTGTGATGGCACTGGCACAGACTGCCTTCCCTCGGGTCTGGCCAACTCACTCTGAGACTCAGCCCAGAAACAGGCACTGGGAGAGAGAGCACCAGCCTTCCCACCTTCCTTCTTCTAAGTTGTCAAACTCTAAAGGACTGTGCCCTCCCCTGTCTGCAAGGTGGCTGACATTCCCCGGGTCACTCCTCTTTCTAGAACAGTCTCGTACCCTGTAAGGGAGTCTTACTTACCAGAACAGGGGCTGCCATGGGGAAAAGGCTGCCTTTGATGAGCCACTCCTCATGGAGATGGTGAATTGCTTCCAGGTATTCCTGCCAGGGAAACACAAGCAGTCTGTCGGGAGTGGACAGAGCAGACCCCACCTACCAAGGGTGTCAAGCAGAGGGGGTCAAAGTAGTCAATGACCATGGGCAGTGACTCAGACAAAGGAACCCTGCAAGAGCAAACCTGGCTCAAGTGGACAGCGGCAGACGCAGCCACACACTCGGTGGCCAGGCTGAGCAAAACAGCACAAGTGTCACCAGCCACCCTGCTCTGCTCCACTGGGGGTTCGTGGGCACAAACACTGGCCCTTCCCCTGGCGCCTGAATCAAAGCCAAGGCAAAAGGCAGGACCCCCTCCCCCTCCCCCTCTCCCTCTCCCCTTTGCACGGTTTCCCTCTGATGCCCAGCCGAGGCTGGACTGTACTGCCGCCAACTCGACTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCAAGTGCCTGGGATTGCAGGCGCGCACCGCCATGCCTGACTGGTTTTCGTATTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTGGTTCACTCAGTGCTCAATGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCTGCCACCCCGTCTAGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTAGGATGTGAGGACCCCTCTGCCCGGCCGCTCAGTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTACCCAATAGCTCATTGAGAACGGGCCATGATGACGATGGCGGTTTTGTCTAATAGAAAAGGGGGAAATGTGGGGAAAAGAAAGATCAGATTGTTACTGTGTCTGTGTAGAAAGAAGTAGACATAGGAGACTCCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATGCTGTTAGTCTATAACCTTACCCCCAACCCCGTGCTCTCTGAAACGTGTGCTGTGTCCACTAAGGGTTAAATGGATTAAGGGCGATGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGTAGCATACTCATTAAGAGTCATCACCATTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCGGCAGGGCCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACATGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTCCGAGAAACACCCAAGAATGATCAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCC
AGAGCGACTCAGCAGCACAAAGCCATGGGAGAGGCACCGGGGGAATGTGAGGCTGCGAACAGCAAAGGGCTTGGCAAACCCATTGGTCCCGTTTGTCATTTACCCACGAGGGCCAGAGACGCATGACAAAGACACTAGCAAAGGAGATGAGACCATTAGGAAAATCAAGCTGGCCAGACACAAAGCCCTCCTGGGAGCAAGTTTTTCCAGATTGCTCCCAATAGCTAACTTGGCAGCAGCAGGCATTTTTCAGACATGAGCCATAGACCTTTTGCCTCCTATGGGCAATGCTTCCGATTCTCTGGAGTTAATATTCGATCCCGATTTTGTTCAAAGAGTTCTAACATCCTCTCCATGTGGTGGTCAGCCTCAATCACCTGGAAATTAGACACATGGGTCACAAGGCTGCACTGACCTCAGCAGCATCCTCCTTTCACAGCTGGAGACAGACAGATGGAAGCAGGCAGCAGGGGGCAGGGAAGGGCACAGAAGGTTGCAGGCAGATAAAAAGGAAGGTTAGAGCCAAATCGCTTTCAGCTCTAGGGCAATCTACATTTCCAATGAGGTTTTCACTTAAGAATGTACTACAAGAGCTAGGTATGGTGGCTCATGTCTATTATCCAAGCACTTTGGGAGGCTGAGACCTGAAGATTACACGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACAGTGAGACCCTGTAAGCTCATGAATGATTTGTTTTTTTCCCTCATCACTTTCTACCCTCCTTTTTTTCCATAATGAGGGAGAAAAATAAGCTGTACTTATTTAAAAATCTACTACAGTAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCCAGAATTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCTTGGCCAACGTGGCAAAATCCCATCTCTACGAAAAATATAAAAAATTATCCAGGCATGGTGGCATGCGCCTGTAGTCCCAGCTATTCAGGAGGCTGAGGCAAGAGAATCATTTGAACCCAGGAGGCAGAGGTTGCAGCGAGCCGAGATTGCGTCACTGCATTCCAGTCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAACAAACAAACAAAAAATTACTACAGTAATATCTCACTTTCCGGCAACCTCACTGCCTGCAAGAGCCATAAGCAGAAGTGTTTGAGCCCAAACAGATATTCCTATGGCCACGCACAAAAGCTCATGCACAGCCCTGCCTCACATCCCATCAAACAATGCTCCTATAGCCATGCACCAAAGCTTGCGCACAACCCTGCCTCACAGCCAATCCCATGTTGTATATGTAACCATCTTAGGTTCCCTCCAATCAAGACTCGGAGGGACCCCAGACTCCGCATTTCTTGGGAGCATCTGGGCCACTGCTTATTTGTCTGAGTAAAGAAATCTGGAAACAGCAAACTGGAAAACAAGGAGATGGGGAAGTAAGGAAATGCTGACGGGACAGACACATCAATATCAGTCAGAAATGACACATGGCAGCAAGAGAAAGGAGGATTACTGTAAAAAGTAAACACAGGAACGCAGAGACATTAGTGGGCAGGGCAGACAGTTCCACACACCTCAGCATTCCTAAGGGCATCACTGTGTGACAGCCCAGACCAGACAATGACATTCCTTCTGATGACCTGAGTCACCAAACAAAGGTGAAATGAGGCTCTGTGTCATCCACGGAAGGAGGAAGGTCACATCAGAGGAACTACTATCCCAAATGGTGAAAACTGAGACCCGGGTCTAGAGTCTTCGCTGAAGATGCTGGATCAGTGACAACTGCCAGGTGTGATGGCACTGGCACAGACTGCCTTCCCTCGGGTCTGGCCAACTCACTCTGAGACTCAGCCCAGAAACAGGCACTGGGAGAGAGAGCACCAGCCTTCCCACCTTCCTTCTTCTAAGTTGTCAAACTCTAAAGGACTGTGCCCTCCCCTGTCTGCAAGGTGGCTGACATTCCCCGGGTCACTCCTCTTTCTAGAACAGTCTCGTACCCTGTAAGGGAGTCTTACTTACCAGAACAAGGGCTGCCATGGGGAAAAGGCTGCCTTTGATGAGCCACTCCTCATGGAGATGGTGAATTGCTTCCAGGTATTCCTGCCAGGGAAACACAAGCAGTCTGTCGGGAGTGGACAGAGCAGACCCCACCTACCAAGGGTGTCAAGCAGAGGGGGTCAAAGTAGTCAATGACCATGGGCAGTGACTCAGACAAAGGAACCCTGCAAGAGCAAACCTGGCTCAAGTGGACAGCGGCAGACGCAGCCACACACTCGGTGGCCAGGCTGAGCAAAACAGCACAAGTGTCACCAGCCACCCTGCTCTGCTCCACTGGGGGTTCGTGGGCACAAACACTGGCCCTTCCCCTGGCGCCTGAATCAAAGCCAAGGCAAAAGGCAGGACCCCCTCCCCCTCCCCCTCTCCCTCTCCCCTTTGCACGGTTTCCCTCTGATGCCCAGCCGAGGCTGGACTGTACTGCCGCCAACTCGACTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCAAGTGCCTGGGATTGCAGGCGCGCACCGCCATGCCTGACTGGTTTTCGTATTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTGGTTCACTCAGTGCTCAATGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCTGCCACCCCGTCTAGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTAGGATGTGAGGACCCCTCTGCCCGGCCGCTCAGTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTACCCAATAGCTCATTGAGAACGGGCCATGATGACGATGGCGGTTTTGTCTAATAGAAAAGGGGGAAATGTGGGGAAAAGAAAGATCAGATTGTTACTGTGTCTGTGTAGAAAGAAGTAGACATAGGAGACTCCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATGCTGTTAGTCTATAACCTTACCCCCAACCCCGTGCTCTCTGAAACGTGTGCTGTGTCCACTAAGGGTTAAATGGATTAAGGGCGATGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGTAGCATACTCATTAAGAGTCATCACCATTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCGGCAGGGCCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACATGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTCCGAGAAACACCCAAGAATGATCAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCC
Task1_train_22777
Gene TK2 (thymidine kinase 2), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Mitochondrial disease
AACAGCAAAGGGCTTGGCAAACCCATTGGTCCCGTTTGTCATTTACCCACGAGGGCCAGAGACGCATGACAAAGACACTAGCAAAGGAGATGAGACCATTAGGAAAATCAAGCTGGCCAGACACAAAGCCCTCCTGGGAGCAAGTTTTTCCAGATTGCTCCCAATAGCTAACTTGGCAGCAGCAGGCATTTTTCAGACATGAGCCATAGACCTTTTGCCTCCTATGGGCAATGCTTCCGATTCTCTGGAGTTAATATTCGATCCCGATTTTGTTCAAAGAGTTCTAACATCCTCTCCATGTGGTGGTCAGCCTCAATCACCTGGAAATTAGACACATGGGTCACAAGGCTGCACTGACCTCAGCAGCATCCTCCTTTCACAGCTGGAGACAGACAGATGGAAGCAGGCAGCAGGGGGCAGGGAAGGGCACAGAAGGTTGCAGGCAGATAAAAAGGAAGGTTAGAGCCAAATCGCTTTCAGCTCTAGGGCAATCTACATTTCCAATGAGGTTTTCACTTAAGAATGTACTACAAGAGCTAGGTATGGTGGCTCATGTCTATTATCCAAGCACTTTGGGAGGCTGAGACCTGAAGATTACACGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACAGTGAGACCCTGTAAGCTCATGAATGATTTGTTTTTTTCCCTCATCACTTTCTACCCTCCTTTTTTTCCATAATGAGGGAGAAAAATAAGCTGTACTTATTTAAAAATCTACTACAGTAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCCAGAATTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCTTGGCCAACGTGGCAAAATCCCATCTCTACGAAAAATATAAAAAATTATCCAGGCATGGTGGCATGCGCCTGTAGTCCCAGCTATTCAGGAGGCTGAGGCAAGAGAATCATTTGAACCCAGGAGGCAGAGGTTGCAGCGAGCCGAGATTGCGTCACTGCATTCCAGTCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAACAAACAAACAAAAAATTACTACAGTAATATCTCACTTTCCGGCAACCTCACTGCCTGCAAGAGCCATAAGCAGAAGTGTTTGAGCCCAAACAGATATTCCTATGGCCACGCACAAAAGCTCATGCACAGCCCTGCCTCACATCCCATCAAACAATGCTCCTATAGCCATGCACCAAAGCTTGCGCACAACCCTGCCTCACAGCCAATCCCATGTTGTATATGTAACCATCTTAGGTTCCCTCCAATCAAGACTCGGAGGGACCCCAGACTCCGCATTTCTTGGGAGCATCTGGGCCACTGCTTATTTGTCTGAGTAAAGAAATCTGGAAACAGCAAACTGGAAAACAAGGAGATGGGGAAGTAAGGAAATGCTGACGGGACAGACACATCAATATCAGTCAGAAATGACACATGGCAGCAAGAGAAAGGAGGATTACTGTAAAAAGTAAACACAGGAACGCAGAGACATTAGTGGGCAGGGCAGACAGTTCCACACACCTCAGCATTCCTAAGGGCATCACTGTGTGACAGCCCAGACCAGACAATGACATTCCTTCTGATGACCTGAGTCACCAAACAAAGGTGAAATGAGGCTCTGTGTCATCCACGGAAGGAGGAAGGTCACATCAGAGGAACTACTATCCCAAATGGTGAAAACTGAGACCCGGGTCTAGAGTCTTCGCTGAAGATGCTGGATCAGTGACAACTGCCAGGTGTGATGGCACTGGCACAGACTGCCTTCCCTCGGGTCTGGCCAACTCACTCTGAGACTCAGCCCAGAAACAGGCACTGGGAGAGAGAGCACCAGCCTTCCCACCTTCCTTCTTCTAAGTTGTCAAACTCTAAAGGACTGTGCCCTCCCCTGTCTGCAAGGTGGCTGACATTCCCCGGGTCACTCCTCTTTCTAGAACAGTCTCGTACCCTGTAAGGGAGTCTTACTTACCAGAACAGGGGCTGCCATGGGGAAAAGGCTGCCTTTGATGAGCCACTCCTCATGGAGATGGTGAATTGCTTCCAGGTATTCCTGCCAGGGAAACACAAGCAGTCTGTCGGGAGTGGACAGAGCAGACCCCACCTACCAAGGGTGTCAAGCAGAGGGGGTCAAAGTAGTCAATGACCATGGGCAGTGACTCAGACAAAGGAACCCTGCAAGAGCAAACCTGGCTCAAGTGGACAGCGGCAGACGCAGCCACACACTCGGTGGCCAGGCTGAGCAAAACAGCACAAGTGTCACCAGCCACCCTGCTCTGCTCCACTGGGGGTTCGTGGGCACAAACACTGGCCCTTCCCCTGGCGCCTGAATCAAAGCCAAGGCAAAAGGCAGGACCCCCTCCCCCTCCCCCTCTCCCTCTCCCCTTTGCACGGTTTCCCTCTGATGCCCAGCCGAGGCTGGACTGTACTGCCGCCAACTCGACTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCAAGTGCCTGGGATTGCAGGCGCGCACCGCCATGCCTGACTGGTTTTCGTATTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTGGTTCACTCAGTGCTCAATGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCTGCCACCCCGTCTAGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTAGGATGTGAGGACCCCTCTGCCCGGCCGCTCAGTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTACCCAATAGCTCATTGAGAACGGGCCATGATGACGATGGCGGTTTTGTCTAATAGAAAAGGGGGAAATGTGGGGAAAAGAAAGATCAGATTGTTACTGTGTCTGTGTAGAAAGAAGTAGACATAGGAGACTCCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATGCTGTTAGTCTATAACCTTACCCCCAACCCCGTGCTCTCTGAAACGTGTGCTGTGTCCACTAAGGGTTAAATGGATTAAGGGCGATGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGTAGCATACTCATTAAGAGTCATCACCATTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCGGCAGGGCCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACATGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTCCGAGAAACACCCAAGAATGATCAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATC
AACAGCAAAGGGCTTGGCAAACCCATTGGTCCCGTTTGTCATTTACCCACGAGGGCCAGAGACGCATGACAAAGACACTAGCAAAGGAGATGAGACCATTAGGAAAATCAAGCTGGCCAGACACAAAGCCCTCCTGGGAGCAAGTTTTTCCAGATTGCTCCCAATAGCTAACTTGGCAGCAGCAGGCATTTTTCAGACATGAGCCATAGACCTTTTGCCTCCTATGGGCAATGCTTCCGATTCTCTGGAGTTAATATTCGATCCCGATTTTGTTCAAAGAGTTCTAACATCCTCTCCATGTGGTGGTCAGCCTCAATCACCTGGAAATTAGACACATGGGTCACAAGGCTGCACTGACCTCAGCAGCATCCTCCTTTCACAGCTGGAGACAGACAGATGGAAGCAGGCAGCAGGGGGCAGGGAAGGGCACAGAAGGTTGCAGGCAGATAAAAAGGAAGGTTAGAGCCAAATCGCTTTCAGCTCTAGGGCAATCTACATTTCCAATGAGGTTTTCACTTAAGAATGTACTACAAGAGCTAGGTATGGTGGCTCATGTCTATTATCCAAGCACTTTGGGAGGCTGAGACCTGAAGATTACACGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACAGTGAGACCCTGTAAGCTCATGAATGATTTGTTTTTTTCCCTCATCACTTTCTACCCTCCTTTTTTTCCATAATGAGGGAGAAAAATAAGCTGTACTTATTTAAAAATCTACTACAGTAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCCAGAATTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCTTGGCCAACGTGGCAAAATCCCATCTCTACGAAAAATATAAAAAATTATCCAGGCATGGTGGCATGCGCCTGTAGTCCCAGCTATTCAGGAGGCTGAGGCAAGAGAATCATTTGAACCCAGGAGGCAGAGGTTGCAGCGAGCCGAGATTGCGTCACTGCATTCCAGTCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAACAAACAAACAAAAAATTACTACAGTAATATCTCACTTTCCGGCAACCTCACTGCCTGCAAGAGCCATAAGCAGAAGTGTTTGAGCCCAAACAGATATTCCTATGGCCACGCACAAAAGCTCATGCACAGCCCTGCCTCACATCCCATCAAACAATGCTCCTATAGCCATGCACCAAAGCTTGCGCACAACCCTGCCTCACAGCCAATCCCATGTTGTATATGTAACCATCTTAGGTTCCCTCCAATCAAGACTCGGAGGGACCCCAGACTCCGCATTTCTTGGGAGCATCTGGGCCACTGCTTATTTGTCTGAGTAAAGAAATCTGGAAACAGCAAACTGGAAAACAAGGAGATGGGGAAGTAAGGAAATGCTGACGGGACAGACACATCAATATCAGTCAGAAATGACACATGGCAGCAAGAGAAAGGAGGATTACTGTAAAAAGTAAACACAGGAACGCAGAGACATTAGTGGGCAGGGCAGACAGTTCCACACACCTCAGCATTCCTAAGGGCATCACTGTGTGACAGCCCAGACCAGACAATGACATTCCTTCTGATGACCTGAGTCACCAAACAAAGGTGAAATGAGGCTCTGTGTCATCCACGGAAGGAGGAAGGTCACATCAGAGGAACTACTATCCCAAATGGTGAAAACTGAGACCCGGGTCTAGAGTCTTCGCTGAAGATGCTGGATCAGTGACAACTGCCAGGTGTGATGGCACTGGCACAGACTGCCTTCCCTCGGGTCTGGCCAACTCACTCTGAGACTCAGCCCAGAAACAGGCACTGGGAGAGAGAGCACCAGCCTTCCCACCTTCCTTCTTCTAAGTTGTCAAACTCTAAAGGACTGTGCCCTCCCCTGTCTGCAAGGTGGCTGACATTCCCCGGGTCACTCCTCTTTCTAGAACAGTCTCGTACCCTGTAAGGGAGTCTTACTTACCAGAACAGGGGCTGCCATGGGGAAAAGGCTGCCTTTGATGAGCCACTCCTCATGGAGATGGTGATTTGCTTCCAGGTATTCCTGCCAGGGAAACACAAGCAGTCTGTCGGGAGTGGACAGAGCAGACCCCACCTACCAAGGGTGTCAAGCAGAGGGGGTCAAAGTAGTCAATGACCATGGGCAGTGACTCAGACAAAGGAACCCTGCAAGAGCAAACCTGGCTCAAGTGGACAGCGGCAGACGCAGCCACACACTCGGTGGCCAGGCTGAGCAAAACAGCACAAGTGTCACCAGCCACCCTGCTCTGCTCCACTGGGGGTTCGTGGGCACAAACACTGGCCCTTCCCCTGGCGCCTGAATCAAAGCCAAGGCAAAAGGCAGGACCCCCTCCCCCTCCCCCTCTCCCTCTCCCCTTTGCACGGTTTCCCTCTGATGCCCAGCCGAGGCTGGACTGTACTGCCGCCAACTCGACTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCAAGTGCCTGGGATTGCAGGCGCGCACCGCCATGCCTGACTGGTTTTCGTATTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTGGTTCACTCAGTGCTCAATGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCTGCCACCCCGTCTAGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTAGGATGTGAGGACCCCTCTGCCCGGCCGCTCAGTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTACCCAATAGCTCATTGAGAACGGGCCATGATGACGATGGCGGTTTTGTCTAATAGAAAAGGGGGAAATGTGGGGAAAAGAAAGATCAGATTGTTACTGTGTCTGTGTAGAAAGAAGTAGACATAGGAGACTCCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATGCTGTTAGTCTATAACCTTACCCCCAACCCCGTGCTCTCTGAAACGTGTGCTGTGTCCACTAAGGGTTAAATGGATTAAGGGCGATGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGTAGCATACTCATTAAGAGTCATCACCATTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCGGCAGGGCCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACATGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTCCGAGAAACACCCAAGAATGATCAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATC
Task1_train_22778
The following genetic variant occurs in TK2 (thymidine kinase 2) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Mitochondrial disease
CCCTCTCCGAGAAACACCCAAGAATGATCAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTATAAACAAATAGTGTCAGTATGCTGTCCTAAGGCCCATGATCACAGAAAGCCAGGGGGTGGGTTTGGGGGGGGTTACAATGGAAGGAAGGTCAGGGGTGGCTTCCTGGAGGAGGTGACATCTGAGTAACACTTTAAAGACAAAGGAAACGACTGTGCAAAGGCACATTTGCATAACTCCACTGTGTATGTGGTTGTTTGTGTGTGGCCACAACTAGTTCCTTATAGCCAGAGCATAGAAAGTAGGGAATGGAGGATGATAACGCCAGAGAGGCAGTTGGGGCCGGGTCATAAGCCGTATTACAAAGTGGGGACTGCATTCTAGCCAGCAGCAAGGCACTGAAAGGTTCTGGGCTGGGAAATTGCACGAGTGGTGATGAGTATTGGAAATATCAGCCGGGCGGCAGCCTGGAGGCCAGATTTTGAAGGGAGATGCAAGGAGGGAAGGGCCAGGGCGAGATGCACAGCCCGGGCCTATACTGGCAGAGTCCCCATGAGAGTCAGTGTGGCCTGAGCAGAACTCAGAAGGGCATGGCATCTCTCCAGTGGGCAAACACCACTAAGCATGAGCACCGCCTCCGTGCCGGGCACTGTGCTAAGCACTAGGGATGCAGCAGTGAACAAGAGGGCTGGGTCCTGCCCTCCTGGAACTCGCATTCTAGGGAGGACACAGAGAGCACAAGGCCAGGCAATCTTCAGGAGGCAGAACAGACAAGCCCTGGTGCTGCCAAGATGGGGAGGGGCAGGTGGGGAGGGGAGGGGAACGCCTCCAAGCAGGAGGGTTGCCAAACTGTGAGTCAGCGACCACAGGAAGCCAAGCAGATCTGGACATCCACGTGGGTCTCTGGCCAAACAGGAAGTCAGAGTTCACCCTCTGATACACTTGGTTCCTGTTCTCTCTCTGCAAACAAGGGCACAATGATCTCATGGGGGTGGGGCCGGGAGAGGAAGCCGGGTTGGACAGAGGTGGTTTCCCAGTTTGTCTTTAACCAAGTCAAAGAGGCCTCTTACCAGCGGAATGACCTTCTCCTCTTCCCTGCATCTCTTCTTTAACCTCTGGTAACAAGTCTCAGGATTGGTCCGAAGGTAAACTGAGGTTAAAAGAATACGTGGCTCTCAGGACTCTGCTCATGGCTTGGAAGCAAAGCAGGCACACAGGCAAAGGCGGGAGGAAGGTCTGCACAGCTCGAGCAGGAAGCAGGGAGGGCCAGCTCTTGGCTTGACCACTGACCCTCCGCCTCGACTTTCATTCTCTTTCAGTGTCAGCGGCCCCGTGGGGTCGTTTTGAGGCTGAATGGGATTCTGTTCATAGACAGAGCTCAAAACAGGCCTCACACCCAGCAGGTCTCAGTGAATGTTCAGGCTCTGTCCTTCCTGTTCCTTTGCAAACTAGAAAAACCCATCAGATCACAGTGGATTTGGGTCTGAAAGTAGCTGAGCCAGGGAGGGAAGTTTAAAGAACAAAGGCCAGGGTTCTTCTCCATGAGAGACCAGAAGTCCCGAATTCTGTCTGCCCTCAGGGAGAAAGCTGAACTCCCATGGGGAAGGAACTGCCAAGGGCAAGTGCCTCACCCACTGCCCCCAAGGGTTGGGGCCCAGCCAAGCACATCCTCAAGGGACCCAGGAGAGAGACAAGAGAGGGAGGTGGGAGGGGTGCATCTCACCTATCAAATCAACAGACACGTCCATGTTCCTCAAGATCCAGTCAAACCATTCCGACAGAACTACATAGTCCACTTCTGGCATCTTCCCACTGCAATGAGAGTTGTAAGGGCTTATTCACCTAAGAGAAAACTTCTGGGCTATGCAATTCCCCCAAAAGGATCTTGAGACGGCTCTCAATGAAAGGAGTCACCAAGGGTACCAGGGCACAGTGTGATCCGTGCAATACTGGACATGCAGTGACAAGGACCCTAAGCATTCCCGACCTCCTGCTGCCTGGGAGCGGCTTATGGCACAATGCTGCAAGGGCCATGGCACGGAGTGATGGGAGAATTCACTTGGGATTGGAACTCTAAGCAGAGAAAGGGACTTTAAAGCTTGTACCCTGAGAACAGAGACAGTGCTCAGGTTAGGCAATGAATCAGCAAACCAATTTCACTTCTAGAAATTTATTTTGTGGACCAGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGAGGATCACTTGAGGCCAGAAGTTCAAGATCTGCCTGGGCAACATGGAAAGACCCCCATCTCTACAAAAACTACAAAAAAATTAACTAGGGGTGGTGGCGCATGCCTATGGTCCTAGCTACTCGGGAAACTGAGGCAGGTGGATCACTTGAGCCCAGGGGTTTAAGGCTGTAGTGGGTCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCTGACTCAAACAAAACAAAAAAATTTATTTTGTGAAAATAATCATGATGCTCACCGCGGCACTGTTTAAACCAATAAAAAACTAAATCTTGGTAAATCTATATAACAGAAAATTCACGCAGTAACTGAAGGATGATATTGTAAAATAATATTTAATGGCATGGAAAAATTTCAAATCTAATGTTCAGTGAAAGCAACAGGATCTAAAACTGTGTATATCCCAACCACATTTCCAAAAGTATTCACCAATGCATCTTGGAAAGGTGGGAAAGAAAAATATCAAAATGTAAAAAGTGCTTTTCTCAAGCTGCAGGACTACATGAGACTTTTCTTTTTTTCTTTATACCTTTTTGTATTTTCCAAATTTTAACAACACATTACTTCTCAAATCAGCAGTGGGAGTTGGGGAGCATTACTACATATTTTAGTTTTTATTTATTTTTTTTTTTTATTTTTTGAGACGTAGTGTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAAGCTCCGCCCCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTATTTTTTATTTTTTTAAGACAGAGTTTCACTCTGTCGCCCAGGCT
CCCTCTCCGAGAAACACCCAAGAATGATCAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTATAAACAAATAGTGTCAGTATGCTGTCCTAAGGCCCATGATCACAGAAAGCCAGGGGGTGGGTTTGGGGGGGGTTACAATGGAAGGAAGGTCAGGGGTGGCTTCCTGGAGGAGGTGACATCTGAGTAACACTTTAAAGACAAAGGAAACGACTGTGCAAAGGCACATTTGCATAACTCCACTGTGTATGTGGTTGTTTGTGTGTGGCCACAACTAGTTCCTTATAGCCAGAGCATAGAAAGTAGGGAATGGAGGATGATAACGCCAGAGAGGCAGTTGGGGCCGGGTCATAAGCCGTATTACAAAGTGGGGACTGCATTCTAGCCAGCAGCAAGGCACTGAAAGGTTCTGGGCTGGGAAATTGCACGAGTGGTGATGAGTATTGGAAATATCAGCCGGGCGGCAGCCTGGAGGCCAGATTTTGAAGGGAGATGCAAGGAGGGAAGGGCCAGGGCGAGATGCACAGCCCGGGCCTATACTGGCAGAGTCCCCATGAGAGTCAGTGTGGCCTGAGCAGAACTCAGAAGGGCATGGCATCTCTCCAGTGGGCAAACACCACTAAGCATGAGCACCGCCTCCGTGCCGGGCACTGTGCTAAGCACTAGGGATGCAGCAGTGAACAAGAGGGCTGGGTCCTGCCCTCCTGGAACTCGCATTCTAGGGAGGACACAGAGAGCACAAGGCCAGGCAATCTTCAGGAGGCAGAACAGACAAGCCCTGGTGCTGCCAAGATGGGGAGGGGCAGGTGGGGAGGGGAGGGGAACGCCTCCAAGCAGGAGGGTTGCCAAACTGTGAGTCAGCGACCACAGGAAGCCAAGCAGATCTGGACATCCACGTGGGTCTCTGGCCAAACAGGAAGTCAGAGTTCACCCTCTGATACACTTGGTTCCTGTTCTCTCTCTGCAAACAAGGGCACAATGATCTCATGGGGGTGGGGCCGGGAGAGGAAGCCGGGTTGGACAGAGGTGGTTTCCCAGTTTGTCTTTAACCAAGTCAAAGAGGCCTCTTACCAGCGGAATGACCTTCTCCTCTTCCCTGCATCTCTTCTTTAACTTCTGGTAACAAGTCTCAGGATTGGTCCGAAGGTAAACTGAGGTTAAAAGAATACGTGGCTCTCAGGACTCTGCTCATGGCTTGGAAGCAAAGCAGGCACACAGGCAAAGGCGGGAGGAAGGTCTGCACAGCTCGAGCAGGAAGCAGGGAGGGCCAGCTCTTGGCTTGACCACTGACCCTCCGCCTCGACTTTCATTCTCTTTCAGTGTCAGCGGCCCCGTGGGGTCGTTTTGAGGCTGAATGGGATTCTGTTCATAGACAGAGCTCAAAACAGGCCTCACACCCAGCAGGTCTCAGTGAATGTTCAGGCTCTGTCCTTCCTGTTCCTTTGCAAACTAGAAAAACCCATCAGATCACAGTGGATTTGGGTCTGAAAGTAGCTGAGCCAGGGAGGGAAGTTTAAAGAACAAAGGCCAGGGTTCTTCTCCATGAGAGACCAGAAGTCCCGAATTCTGTCTGCCCTCAGGGAGAAAGCTGAACTCCCATGGGGAAGGAACTGCCAAGGGCAAGTGCCTCACCCACTGCCCCCAAGGGTTGGGGCCCAGCCAAGCACATCCTCAAGGGACCCAGGAGAGAGACAAGAGAGGGAGGTGGGAGGGGTGCATCTCACCTATCAAATCAACAGACACGTCCATGTTCCTCAAGATCCAGTCAAACCATTCCGACAGAACTACATAGTCCACTTCTGGCATCTTCCCACTGCAATGAGAGTTGTAAGGGCTTATTCACCTAAGAGAAAACTTCTGGGCTATGCAATTCCCCCAAAAGGATCTTGAGACGGCTCTCAATGAAAGGAGTCACCAAGGGTACCAGGGCACAGTGTGATCCGTGCAATACTGGACATGCAGTGACAAGGACCCTAAGCATTCCCGACCTCCTGCTGCCTGGGAGCGGCTTATGGCACAATGCTGCAAGGGCCATGGCACGGAGTGATGGGAGAATTCACTTGGGATTGGAACTCTAAGCAGAGAAAGGGACTTTAAAGCTTGTACCCTGAGAACAGAGACAGTGCTCAGGTTAGGCAATGAATCAGCAAACCAATTTCACTTCTAGAAATTTATTTTGTGGACCAGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGAGGATCACTTGAGGCCAGAAGTTCAAGATCTGCCTGGGCAACATGGAAAGACCCCCATCTCTACAAAAACTACAAAAAAATTAACTAGGGGTGGTGGCGCATGCCTATGGTCCTAGCTACTCGGGAAACTGAGGCAGGTGGATCACTTGAGCCCAGGGGTTTAAGGCTGTAGTGGGTCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCTGACTCAAACAAAACAAAAAAATTTATTTTGTGAAAATAATCATGATGCTCACCGCGGCACTGTTTAAACCAATAAAAAACTAAATCTTGGTAAATCTATATAACAGAAAATTCACGCAGTAACTGAAGGATGATATTGTAAAATAATATTTAATGGCATGGAAAAATTTCAAATCTAATGTTCAGTGAAAGCAACAGGATCTAAAACTGTGTATATCCCAACCACATTTCCAAAAGTATTCACCAATGCATCTTGGAAAGGTGGGAAAGAAAAATATCAAAATGTAAAAAGTGCTTTTCTCAAGCTGCAGGACTACATGAGACTTTTCTTTTTTTCTTTATACCTTTTTGTATTTTCCAAATTTTAACAACACATTACTTCTCAAATCAGCAGTGGGAGTTGGGGAGCATTACTACATATTTTAGTTTTTATTTATTTTTTTTTTTTATTTTTTGAGACGTAGTGTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAAGCTCCGCCCCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTATTTTTTATTTTTTTAAGACAGAGTTTCACTCTGTCGCCCAGGCT
Task1_train_22779
A variant was discovered in gene TK2 (thymidine kinase 2), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Mitochondrial DNA depletion syndrome
CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTATAAACAAATAGTGTCAGTATGCTGTCCTAAGGCCCATGATCACAGAAAGCCAGGGGGTGGGTTTGGGGGGGGTTACAATGGAAGGAAGGTCAGGGGTGGCTTCCTGGAGGAGGTGACATCTGAGTAACACTTTAAAGACAAAGGAAACGACTGTGCAAAGGCACATTTGCATAACTCCACTGTGTATGTGGTTGTTTGTGTGTGGCCACAACTAGTTCCTTATAGCCAGAGCATAGAAAGTAGGGAATGGAGGATGATAACGCCAGAGAGGCAGTTGGGGCCGGGTCATAAGCCGTATTACAAAGTGGGGACTGCATTCTAGCCAGCAGCAAGGCACTGAAAGGTTCTGGGCTGGGAAATTGCACGAGTGGTGATGAGTATTGGAAATATCAGCCGGGCGGCAGCCTGGAGGCCAGATTTTGAAGGGAGATGCAAGGAGGGAAGGGCCAGGGCGAGATGCACAGCCCGGGCCTATACTGGCAGAGTCCCCATGAGAGTCAGTGTGGCCTGAGCAGAACTCAGAAGGGCATGGCATCTCTCCAGTGGGCAAACACCACTAAGCATGAGCACCGCCTCCGTGCCGGGCACTGTGCTAAGCACTAGGGATGCAGCAGTGAACAAGAGGGCTGGGTCCTGCCCTCCTGGAACTCGCATTCTAGGGAGGACACAGAGAGCACAAGGCCAGGCAATCTTCAGGAGGCAGAACAGACAAGCCCTGGTGCTGCCAAGATGGGGAGGGGCAGGTGGGGAGGGGAGGGGAACGCCTCCAAGCAGGAGGGTTGCCAAACTGTGAGTCAGCGACCACAGGAAGCCAAGCAGATCTGGACATCCACGTGGGTCTCTGGCCAAACAGGAAGTCAGAGTTCACCCTCTGATACACTTGGTTCCTGTTCTCTCTCTGCAAACAAGGGCACAATGATCTCATGGGGGTGGGGCCGGGAGAGGAAGCCGGGTTGGACAGAGGTGGTTTCCCAGTTTGTCTTTAACCAAGTCAAAGAGGCCTCTTACCAGCGGAATGACCTTCTCCTCTTCCCTGCATCTCTTCTTTAACCTCTGGTAACAAGTCTCAGGATTGGTCCGAAGGTAAACTGAGGTTAAAAGAATACGTGGCTCTCAGGACTCTGCTCATGGCTTGGAAGCAAAGCAGGCACACAGGCAAAGGCGGGAGGAAGGTCTGCACAGCTCGAGCAGGAAGCAGGGAGGGCCAGCTCTTGGCTTGACCACTGACCCTCCGCCTCGACTTTCATTCTCTTTCAGTGTCAGCGGCCCCGTGGGGTCGTTTTGAGGCTGAATGGGATTCTGTTCATAGACAGAGCTCAAAACAGGCCTCACACCCAGCAGGTCTCAGTGAATGTTCAGGCTCTGTCCTTCCTGTTCCTTTGCAAACTAGAAAAACCCATCAGATCACAGTGGATTTGGGTCTGAAAGTAGCTGAGCCAGGGAGGGAAGTTTAAAGAACAAAGGCCAGGGTTCTTCTCCATGAGAGACCAGAAGTCCCGAATTCTGTCTGCCCTCAGGGAGAAAGCTGAACTCCCATGGGGAAGGAACTGCCAAGGGCAAGTGCCTCACCCACTGCCCCCAAGGGTTGGGGCCCAGCCAAGCACATCCTCAAGGGACCCAGGAGAGAGACAAGAGAGGGAGGTGGGAGGGGTGCATCTCACCTATCAAATCAACAGACACGTCCATGTTCCTCAAGATCCAGTCAAACCATTCCGACAGAACTACATAGTCCACTTCTGGCATCTTCCCACTGCAATGAGAGTTGTAAGGGCTTATTCACCTAAGAGAAAACTTCTGGGCTATGCAATTCCCCCAAAAGGATCTTGAGACGGCTCTCAATGAAAGGAGTCACCAAGGGTACCAGGGCACAGTGTGATCCGTGCAATACTGGACATGCAGTGACAAGGACCCTAAGCATTCCCGACCTCCTGCTGCCTGGGAGCGGCTTATGGCACAATGCTGCAAGGGCCATGGCACGGAGTGATGGGAGAATTCACTTGGGATTGGAACTCTAAGCAGAGAAAGGGACTTTAAAGCTTGTACCCTGAGAACAGAGACAGTGCTCAGGTTAGGCAATGAATCAGCAAACCAATTTCACTTCTAGAAATTTATTTTGTGGACCAGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGAGGATCACTTGAGGCCAGAAGTTCAAGATCTGCCTGGGCAACATGGAAAGACCCCCATCTCTACAAAAACTACAAAAAAATTAACTAGGGGTGGTGGCGCATGCCTATGGTCCTAGCTACTCGGGAAACTGAGGCAGGTGGATCACTTGAGCCCAGGGGTTTAAGGCTGTAGTGGGTCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCTGACTCAAACAAAACAAAAAAATTTATTTTGTGAAAATAATCATGATGCTCACCGCGGCACTGTTTAAACCAATAAAAAACTAAATCTTGGTAAATCTATATAACAGAAAATTCACGCAGTAACTGAAGGATGATATTGTAAAATAATATTTAATGGCATGGAAAAATTTCAAATCTAATGTTCAGTGAAAGCAACAGGATCTAAAACTGTGTATATCCCAACCACATTTCCAAAAGTATTCACCAATGCATCTTGGAAAGGTGGGAAAGAAAAATATCAAAATGTAAAAAGTGCTTTTCTCAAGCTGCAGGACTACATGAGACTTTTCTTTTTTTCTTTATACCTTTTTGTATTTTCCAAATTTTAACAACACATTACTTCTCAAATCAGCAGTGGGAGTTGGGGAGCATTACTACATATTTTAGTTTTTATTTATTTTTTTTTTTTATTTTTTGAGACGTAGTGTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAAGCTCCGCCCCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTATTTTTTATTTTTTTAAGACAGAGTTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCAC
CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTATAAACAAATAGTGTCAGTATGCTGTCCTAAGGCCCATGATCACAGAAAGCCAGGGGGTGGGTTTGGGGGGGGTTACAATGGAAGGAAGGTCAGGGGTGGCTTCCTGGAGGAGGTGACATCTGAGTAACACTTTAAAGACAAAGGAAACGACTGTGCAAAGGCACATTTGCATAACTCCACTGTGTATGTGGTTGTTTGTGTGTGGCCACAACTAGTTCCTTATAGCCAGAGCATAGAAAGTAGGGAATGGAGGATGATAACGCCAGAGAGGCAGTTGGGGCCGGGTCATAAGCCGTATTACAAAGTGGGGACTGCATTCTAGCCAGCAGCAAGGCACTGAAAGGTTCTGGGCTGGGAAATTGCACGAGTGGTGATGAGTATTGGAAATATCAGCCGGGCGGCAGCCTGGAGGCCAGATTTTGAAGGGAGATGCAAGGAGGGAAGGGCCAGGGCGAGATGCACAGCCCGGGCCTATACTGGCAGAGTCCCCATGAGAGTCAGTGTGGCCTGAGCAGAACTCAGAAGGGCATGGCATCTCTCCAGTGGGCAAACACCACTAAGCATGAGCACCGCCTCCGTGCCGGGCACTGTGCTAAGCACTAGGGATGCAGCAGTGAACAAGAGGGCTGGGTCCTGCCCTCCTGGAACTCGCATTCTAGGGAGGACACAGAGAGCACAAGGCCAGGCAATCTTCAGGAGGCAGAACAGACAAGCCCTGGTGCTGCCAAGATGGGGAGGGGCAGGTGGGGAGGGGAGGGGAACGCCTCCAAGCAGGAGGGTTGCCAAACTGTGAGTCAGCGACCACAGGAAGCCAAGCAGATCTGGACATCCACGTGGGTCTCTGGCCAAACAGGAAGTCAGAGTTCACCCTCTGATACACTTGGTTCCTGTTCTCTCTCTGCAAACAAGGGCACAATGATCTCATGGGGGTGGGGCCGGGAGAGGAAGCCGGGTTGGACAGAGGTGGTTTCCCAGTTTGTCTTTAACCAAGTCAAAGAGGCCTCTTACCAGCGGAATGACCTTCTCCTCTTCCCTGCATCTCTTCTTTAACCTCTGGTAACAAGTCTCAGGATTGGTCCAAAGGTAAACTGAGGTTAAAAGAATACGTGGCTCTCAGGACTCTGCTCATGGCTTGGAAGCAAAGCAGGCACACAGGCAAAGGCGGGAGGAAGGTCTGCACAGCTCGAGCAGGAAGCAGGGAGGGCCAGCTCTTGGCTTGACCACTGACCCTCCGCCTCGACTTTCATTCTCTTTCAGTGTCAGCGGCCCCGTGGGGTCGTTTTGAGGCTGAATGGGATTCTGTTCATAGACAGAGCTCAAAACAGGCCTCACACCCAGCAGGTCTCAGTGAATGTTCAGGCTCTGTCCTTCCTGTTCCTTTGCAAACTAGAAAAACCCATCAGATCACAGTGGATTTGGGTCTGAAAGTAGCTGAGCCAGGGAGGGAAGTTTAAAGAACAAAGGCCAGGGTTCTTCTCCATGAGAGACCAGAAGTCCCGAATTCTGTCTGCCCTCAGGGAGAAAGCTGAACTCCCATGGGGAAGGAACTGCCAAGGGCAAGTGCCTCACCCACTGCCCCCAAGGGTTGGGGCCCAGCCAAGCACATCCTCAAGGGACCCAGGAGAGAGACAAGAGAGGGAGGTGGGAGGGGTGCATCTCACCTATCAAATCAACAGACACGTCCATGTTCCTCAAGATCCAGTCAAACCATTCCGACAGAACTACATAGTCCACTTCTGGCATCTTCCCACTGCAATGAGAGTTGTAAGGGCTTATTCACCTAAGAGAAAACTTCTGGGCTATGCAATTCCCCCAAAAGGATCTTGAGACGGCTCTCAATGAAAGGAGTCACCAAGGGTACCAGGGCACAGTGTGATCCGTGCAATACTGGACATGCAGTGACAAGGACCCTAAGCATTCCCGACCTCCTGCTGCCTGGGAGCGGCTTATGGCACAATGCTGCAAGGGCCATGGCACGGAGTGATGGGAGAATTCACTTGGGATTGGAACTCTAAGCAGAGAAAGGGACTTTAAAGCTTGTACCCTGAGAACAGAGACAGTGCTCAGGTTAGGCAATGAATCAGCAAACCAATTTCACTTCTAGAAATTTATTTTGTGGACCAGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGAGGATCACTTGAGGCCAGAAGTTCAAGATCTGCCTGGGCAACATGGAAAGACCCCCATCTCTACAAAAACTACAAAAAAATTAACTAGGGGTGGTGGCGCATGCCTATGGTCCTAGCTACTCGGGAAACTGAGGCAGGTGGATCACTTGAGCCCAGGGGTTTAAGGCTGTAGTGGGTCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCTGACTCAAACAAAACAAAAAAATTTATTTTGTGAAAATAATCATGATGCTCACCGCGGCACTGTTTAAACCAATAAAAAACTAAATCTTGGTAAATCTATATAACAGAAAATTCACGCAGTAACTGAAGGATGATATTGTAAAATAATATTTAATGGCATGGAAAAATTTCAAATCTAATGTTCAGTGAAAGCAACAGGATCTAAAACTGTGTATATCCCAACCACATTTCCAAAAGTATTCACCAATGCATCTTGGAAAGGTGGGAAAGAAAAATATCAAAATGTAAAAAGTGCTTTTCTCAAGCTGCAGGACTACATGAGACTTTTCTTTTTTTCTTTATACCTTTTTGTATTTTCCAAATTTTAACAACACATTACTTCTCAAATCAGCAGTGGGAGTTGGGGAGCATTACTACATATTTTAGTTTTTATTTATTTTTTTTTTTTATTTTTTGAGACGTAGTGTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAAGCTCCGCCCCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTATTTTTTATTTTTTTAAGACAGAGTTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCAC
Task1_train_22780
This variant impacts the gene TK2 (thymidine kinase 2) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form
CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTATAAACAAATAGTGTCAGTATGCTGTCCTAAGGCCCATGATCACAGAAAGCCAGGGGGTGGGTTTGGGGGGGGTTACAATGGAAGGAAGGTCAGGGGTGGCTTCCTGGAGGAGGTGACATCTGAGTAACACTTTAAAGACAAAGGAAACGACTGTGCAAAGGCACATTTGCATAACTCCACTGTGTATGTGGTTGTTTGTGTGTGGCCACAACTAGTTCCTTATAGCCAGAGCATAGAAAGTAGGGAATGGAGGATGATAACGCCAGAGAGGCAGTTGGGGCCGGGTCATAAGCCGTATTACAAAGTGGGGACTGCATTCTAGCCAGCAGCAAGGCACTGAAAGGTTCTGGGCTGGGAAATTGCACGAGTGGTGATGAGTATTGGAAATATCAGCCGGGCGGCAGCCTGGAGGCCAGATTTTGAAGGGAGATGCAAGGAGGGAAGGGCCAGGGCGAGATGCACAGCCCGGGCCTATACTGGCAGAGTCCCCATGAGAGTCAGTGTGGCCTGAGCAGAACTCAGAAGGGCATGGCATCTCTCCAGTGGGCAAACACCACTAAGCATGAGCACCGCCTCCGTGCCGGGCACTGTGCTAAGCACTAGGGATGCAGCAGTGAACAAGAGGGCTGGGTCCTGCCCTCCTGGAACTCGCATTCTAGGGAGGACACAGAGAGCACAAGGCCAGGCAATCTTCAGGAGGCAGAACAGACAAGCCCTGGTGCTGCCAAGATGGGGAGGGGCAGGTGGGGAGGGGAGGGGAACGCCTCCAAGCAGGAGGGTTGCCAAACTGTGAGTCAGCGACCACAGGAAGCCAAGCAGATCTGGACATCCACGTGGGTCTCTGGCCAAACAGGAAGTCAGAGTTCACCCTCTGATACACTTGGTTCCTGTTCTCTCTCTGCAAACAAGGGCACAATGATCTCATGGGGGTGGGGCCGGGAGAGGAAGCCGGGTTGGACAGAGGTGGTTTCCCAGTTTGTCTTTAACCAAGTCAAAGAGGCCTCTTACCAGCGGAATGACCTTCTCCTCTTCCCTGCATCTCTTCTTTAACCTCTGGTAACAAGTCTCAGGATTGGTCCGAAGGTAAACTGAGGTTAAAAGAATACGTGGCTCTCAGGACTCTGCTCATGGCTTGGAAGCAAAGCAGGCACACAGGCAAAGGCGGGAGGAAGGTCTGCACAGCTCGAGCAGGAAGCAGGGAGGGCCAGCTCTTGGCTTGACCACTGACCCTCCGCCTCGACTTTCATTCTCTTTCAGTGTCAGCGGCCCCGTGGGGTCGTTTTGAGGCTGAATGGGATTCTGTTCATAGACAGAGCTCAAAACAGGCCTCACACCCAGCAGGTCTCAGTGAATGTTCAGGCTCTGTCCTTCCTGTTCCTTTGCAAACTAGAAAAACCCATCAGATCACAGTGGATTTGGGTCTGAAAGTAGCTGAGCCAGGGAGGGAAGTTTAAAGAACAAAGGCCAGGGTTCTTCTCCATGAGAGACCAGAAGTCCCGAATTCTGTCTGCCCTCAGGGAGAAAGCTGAACTCCCATGGGGAAGGAACTGCCAAGGGCAAGTGCCTCACCCACTGCCCCCAAGGGTTGGGGCCCAGCCAAGCACATCCTCAAGGGACCCAGGAGAGAGACAAGAGAGGGAGGTGGGAGGGGTGCATCTCACCTATCAAATCAACAGACACGTCCATGTTCCTCAAGATCCAGTCAAACCATTCCGACAGAACTACATAGTCCACTTCTGGCATCTTCCCACTGCAATGAGAGTTGTAAGGGCTTATTCACCTAAGAGAAAACTTCTGGGCTATGCAATTCCCCCAAAAGGATCTTGAGACGGCTCTCAATGAAAGGAGTCACCAAGGGTACCAGGGCACAGTGTGATCCGTGCAATACTGGACATGCAGTGACAAGGACCCTAAGCATTCCCGACCTCCTGCTGCCTGGGAGCGGCTTATGGCACAATGCTGCAAGGGCCATGGCACGGAGTGATGGGAGAATTCACTTGGGATTGGAACTCTAAGCAGAGAAAGGGACTTTAAAGCTTGTACCCTGAGAACAGAGACAGTGCTCAGGTTAGGCAATGAATCAGCAAACCAATTTCACTTCTAGAAATTTATTTTGTGGACCAGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGAGGATCACTTGAGGCCAGAAGTTCAAGATCTGCCTGGGCAACATGGAAAGACCCCCATCTCTACAAAAACTACAAAAAAATTAACTAGGGGTGGTGGCGCATGCCTATGGTCCTAGCTACTCGGGAAACTGAGGCAGGTGGATCACTTGAGCCCAGGGGTTTAAGGCTGTAGTGGGTCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCTGACTCAAACAAAACAAAAAAATTTATTTTGTGAAAATAATCATGATGCTCACCGCGGCACTGTTTAAACCAATAAAAAACTAAATCTTGGTAAATCTATATAACAGAAAATTCACGCAGTAACTGAAGGATGATATTGTAAAATAATATTTAATGGCATGGAAAAATTTCAAATCTAATGTTCAGTGAAAGCAACAGGATCTAAAACTGTGTATATCCCAACCACATTTCCAAAAGTATTCACCAATGCATCTTGGAAAGGTGGGAAAGAAAAATATCAAAATGTAAAAAGTGCTTTTCTCAAGCTGCAGGACTACATGAGACTTTTCTTTTTTTCTTTATACCTTTTTGTATTTTCCAAATTTTAACAACACATTACTTCTCAAATCAGCAGTGGGAGTTGGGGAGCATTACTACATATTTTAGTTTTTATTTATTTTTTTTTTTTATTTTTTGAGACGTAGTGTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAAGCTCCGCCCCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTATTTTTTATTTTTTTAAGACAGAGTTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCAC
CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTATAAACAAATAGTGTCAGTATGCTGTCCTAAGGCCCATGATCACAGAAAGCCAGGGGGTGGGTTTGGGGGGGGTTACAATGGAAGGAAGGTCAGGGGTGGCTTCCTGGAGGAGGTGACATCTGAGTAACACTTTAAAGACAAAGGAAACGACTGTGCAAAGGCACATTTGCATAACTCCACTGTGTATGTGGTTGTTTGTGTGTGGCCACAACTAGTTCCTTATAGCCAGAGCATAGAAAGTAGGGAATGGAGGATGATAACGCCAGAGAGGCAGTTGGGGCCGGGTCATAAGCCGTATTACAAAGTGGGGACTGCATTCTAGCCAGCAGCAAGGCACTGAAAGGTTCTGGGCTGGGAAATTGCACGAGTGGTGATGAGTATTGGAAATATCAGCCGGGCGGCAGCCTGGAGGCCAGATTTTGAAGGGAGATGCAAGGAGGGAAGGGCCAGGGCGAGATGCACAGCCCGGGCCTATACTGGCAGAGTCCCCATGAGAGTCAGTGTGGCCTGAGCAGAACTCAGAAGGGCATGGCATCTCTCCAGTGGGCAAACACCACTAAGCATGAGCACCGCCTCCGTGCCGGGCACTGTGCTAAGCACTAGGGATGCAGCAGTGAACAAGAGGGCTGGGTCCTGCCCTCCTGGAACTCGCATTCTAGGGAGGACACAGAGAGCACAAGGCCAGGCAATCTTCAGGAGGCAGAACAGACAAGCCCTGGTGCTGCCAAGATGGGGAGGGGCAGGTGGGGAGGGGAGGGGAACGCCTCCAAGCAGGAGGGTTGCCAAACTGTGAGTCAGCGACCACAGGAAGCCAAGCAGATCTGGACATCCACGTGGGTCTCTGGCCAAACAGGAAGTCAGAGTTCACCCTCTGATACACTTGGTTCCTGTTCTCTCTCTGCAAACAAGGGCACAATGATCTCATGGGGGTGGGGCCGGGAGAGGAAGCCGGGTTGGACAGAGGTGGTTTCCCAGTTTGTCTTTAACCAAGTCAAAGAGGCCTCTTACCAGCGGAATGACCTTCTCCTCTTCCCTGCATCTCTTCTTTAACCTCTGGTAACAAGTCTCAGGATTGGTCCAAAGGTAAACTGAGGTTAAAAGAATACGTGGCTCTCAGGACTCTGCTCATGGCTTGGAAGCAAAGCAGGCACACAGGCAAAGGCGGGAGGAAGGTCTGCACAGCTCGAGCAGGAAGCAGGGAGGGCCAGCTCTTGGCTTGACCACTGACCCTCCGCCTCGACTTTCATTCTCTTTCAGTGTCAGCGGCCCCGTGGGGTCGTTTTGAGGCTGAATGGGATTCTGTTCATAGACAGAGCTCAAAACAGGCCTCACACCCAGCAGGTCTCAGTGAATGTTCAGGCTCTGTCCTTCCTGTTCCTTTGCAAACTAGAAAAACCCATCAGATCACAGTGGATTTGGGTCTGAAAGTAGCTGAGCCAGGGAGGGAAGTTTAAAGAACAAAGGCCAGGGTTCTTCTCCATGAGAGACCAGAAGTCCCGAATTCTGTCTGCCCTCAGGGAGAAAGCTGAACTCCCATGGGGAAGGAACTGCCAAGGGCAAGTGCCTCACCCACTGCCCCCAAGGGTTGGGGCCCAGCCAAGCACATCCTCAAGGGACCCAGGAGAGAGACAAGAGAGGGAGGTGGGAGGGGTGCATCTCACCTATCAAATCAACAGACACGTCCATGTTCCTCAAGATCCAGTCAAACCATTCCGACAGAACTACATAGTCCACTTCTGGCATCTTCCCACTGCAATGAGAGTTGTAAGGGCTTATTCACCTAAGAGAAAACTTCTGGGCTATGCAATTCCCCCAAAAGGATCTTGAGACGGCTCTCAATGAAAGGAGTCACCAAGGGTACCAGGGCACAGTGTGATCCGTGCAATACTGGACATGCAGTGACAAGGACCCTAAGCATTCCCGACCTCCTGCTGCCTGGGAGCGGCTTATGGCACAATGCTGCAAGGGCCATGGCACGGAGTGATGGGAGAATTCACTTGGGATTGGAACTCTAAGCAGAGAAAGGGACTTTAAAGCTTGTACCCTGAGAACAGAGACAGTGCTCAGGTTAGGCAATGAATCAGCAAACCAATTTCACTTCTAGAAATTTATTTTGTGGACCAGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGAGGATCACTTGAGGCCAGAAGTTCAAGATCTGCCTGGGCAACATGGAAAGACCCCCATCTCTACAAAAACTACAAAAAAATTAACTAGGGGTGGTGGCGCATGCCTATGGTCCTAGCTACTCGGGAAACTGAGGCAGGTGGATCACTTGAGCCCAGGGGTTTAAGGCTGTAGTGGGTCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCTGACTCAAACAAAACAAAAAAATTTATTTTGTGAAAATAATCATGATGCTCACCGCGGCACTGTTTAAACCAATAAAAAACTAAATCTTGGTAAATCTATATAACAGAAAATTCACGCAGTAACTGAAGGATGATATTGTAAAATAATATTTAATGGCATGGAAAAATTTCAAATCTAATGTTCAGTGAAAGCAACAGGATCTAAAACTGTGTATATCCCAACCACATTTCCAAAAGTATTCACCAATGCATCTTGGAAAGGTGGGAAAGAAAAATATCAAAATGTAAAAAGTGCTTTTCTCAAGCTGCAGGACTACATGAGACTTTTCTTTTTTTCTTTATACCTTTTTGTATTTTCCAAATTTTAACAACACATTACTTCTCAAATCAGCAGTGGGAGTTGGGGAGCATTACTACATATTTTAGTTTTTATTTATTTTTTTTTTTTATTTTTTGAGACGTAGTGTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAAGCTCCGCCCCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTATTTTTTATTTTTTTAAGACAGAGTTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCAC
Task1_train_22781
This variant lies on Chromosome 16 and affects the gene TK2 (thymidine kinase 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Mitochondrial disease
CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTATAAACAAATAGTGTCAGTATGCTGTCCTAAGGCCCATGATCACAGAAAGCCAGGGGGTGGGTTTGGGGGGGGTTACAATGGAAGGAAGGTCAGGGGTGGCTTCCTGGAGGAGGTGACATCTGAGTAACACTTTAAAGACAAAGGAAACGACTGTGCAAAGGCACATTTGCATAACTCCACTGTGTATGTGGTTGTTTGTGTGTGGCCACAACTAGTTCCTTATAGCCAGAGCATAGAAAGTAGGGAATGGAGGATGATAACGCCAGAGAGGCAGTTGGGGCCGGGTCATAAGCCGTATTACAAAGTGGGGACTGCATTCTAGCCAGCAGCAAGGCACTGAAAGGTTCTGGGCTGGGAAATTGCACGAGTGGTGATGAGTATTGGAAATATCAGCCGGGCGGCAGCCTGGAGGCCAGATTTTGAAGGGAGATGCAAGGAGGGAAGGGCCAGGGCGAGATGCACAGCCCGGGCCTATACTGGCAGAGTCCCCATGAGAGTCAGTGTGGCCTGAGCAGAACTCAGAAGGGCATGGCATCTCTCCAGTGGGCAAACACCACTAAGCATGAGCACCGCCTCCGTGCCGGGCACTGTGCTAAGCACTAGGGATGCAGCAGTGAACAAGAGGGCTGGGTCCTGCCCTCCTGGAACTCGCATTCTAGGGAGGACACAGAGAGCACAAGGCCAGGCAATCTTCAGGAGGCAGAACAGACAAGCCCTGGTGCTGCCAAGATGGGGAGGGGCAGGTGGGGAGGGGAGGGGAACGCCTCCAAGCAGGAGGGTTGCCAAACTGTGAGTCAGCGACCACAGGAAGCCAAGCAGATCTGGACATCCACGTGGGTCTCTGGCCAAACAGGAAGTCAGAGTTCACCCTCTGATACACTTGGTTCCTGTTCTCTCTCTGCAAACAAGGGCACAATGATCTCATGGGGGTGGGGCCGGGAGAGGAAGCCGGGTTGGACAGAGGTGGTTTCCCAGTTTGTCTTTAACCAAGTCAAAGAGGCCTCTTACCAGCGGAATGACCTTCTCCTCTTCCCTGCATCTCTTCTTTAACCTCTGGTAACAAGTCTCAGGATTGGTCCGAAGGTAAACTGAGGTTAAAAGAATACGTGGCTCTCAGGACTCTGCTCATGGCTTGGAAGCAAAGCAGGCACACAGGCAAAGGCGGGAGGAAGGTCTGCACAGCTCGAGCAGGAAGCAGGGAGGGCCAGCTCTTGGCTTGACCACTGACCCTCCGCCTCGACTTTCATTCTCTTTCAGTGTCAGCGGCCCCGTGGGGTCGTTTTGAGGCTGAATGGGATTCTGTTCATAGACAGAGCTCAAAACAGGCCTCACACCCAGCAGGTCTCAGTGAATGTTCAGGCTCTGTCCTTCCTGTTCCTTTGCAAACTAGAAAAACCCATCAGATCACAGTGGATTTGGGTCTGAAAGTAGCTGAGCCAGGGAGGGAAGTTTAAAGAACAAAGGCCAGGGTTCTTCTCCATGAGAGACCAGAAGTCCCGAATTCTGTCTGCCCTCAGGGAGAAAGCTGAACTCCCATGGGGAAGGAACTGCCAAGGGCAAGTGCCTCACCCACTGCCCCCAAGGGTTGGGGCCCAGCCAAGCACATCCTCAAGGGACCCAGGAGAGAGACAAGAGAGGGAGGTGGGAGGGGTGCATCTCACCTATCAAATCAACAGACACGTCCATGTTCCTCAAGATCCAGTCAAACCATTCCGACAGAACTACATAGTCCACTTCTGGCATCTTCCCACTGCAATGAGAGTTGTAAGGGCTTATTCACCTAAGAGAAAACTTCTGGGCTATGCAATTCCCCCAAAAGGATCTTGAGACGGCTCTCAATGAAAGGAGTCACCAAGGGTACCAGGGCACAGTGTGATCCGTGCAATACTGGACATGCAGTGACAAGGACCCTAAGCATTCCCGACCTCCTGCTGCCTGGGAGCGGCTTATGGCACAATGCTGCAAGGGCCATGGCACGGAGTGATGGGAGAATTCACTTGGGATTGGAACTCTAAGCAGAGAAAGGGACTTTAAAGCTTGTACCCTGAGAACAGAGACAGTGCTCAGGTTAGGCAATGAATCAGCAAACCAATTTCACTTCTAGAAATTTATTTTGTGGACCAGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGAGGATCACTTGAGGCCAGAAGTTCAAGATCTGCCTGGGCAACATGGAAAGACCCCCATCTCTACAAAAACTACAAAAAAATTAACTAGGGGTGGTGGCGCATGCCTATGGTCCTAGCTACTCGGGAAACTGAGGCAGGTGGATCACTTGAGCCCAGGGGTTTAAGGCTGTAGTGGGTCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCTGACTCAAACAAAACAAAAAAATTTATTTTGTGAAAATAATCATGATGCTCACCGCGGCACTGTTTAAACCAATAAAAAACTAAATCTTGGTAAATCTATATAACAGAAAATTCACGCAGTAACTGAAGGATGATATTGTAAAATAATATTTAATGGCATGGAAAAATTTCAAATCTAATGTTCAGTGAAAGCAACAGGATCTAAAACTGTGTATATCCCAACCACATTTCCAAAAGTATTCACCAATGCATCTTGGAAAGGTGGGAAAGAAAAATATCAAAATGTAAAAAGTGCTTTTCTCAAGCTGCAGGACTACATGAGACTTTTCTTTTTTTCTTTATACCTTTTTGTATTTTCCAAATTTTAACAACACATTACTTCTCAAATCAGCAGTGGGAGTTGGGGAGCATTACTACATATTTTAGTTTTTATTTATTTTTTTTTTTTATTTTTTGAGACGTAGTGTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAAGCTCCGCCCCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTATTTTTTATTTTTTTAAGACAGAGTTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCAC
CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTATAAACAAATAGTGTCAGTATGCTGTCCTAAGGCCCATGATCACAGAAAGCCAGGGGGTGGGTTTGGGGGGGGTTACAATGGAAGGAAGGTCAGGGGTGGCTTCCTGGAGGAGGTGACATCTGAGTAACACTTTAAAGACAAAGGAAACGACTGTGCAAAGGCACATTTGCATAACTCCACTGTGTATGTGGTTGTTTGTGTGTGGCCACAACTAGTTCCTTATAGCCAGAGCATAGAAAGTAGGGAATGGAGGATGATAACGCCAGAGAGGCAGTTGGGGCCGGGTCATAAGCCGTATTACAAAGTGGGGACTGCATTCTAGCCAGCAGCAAGGCACTGAAAGGTTCTGGGCTGGGAAATTGCACGAGTGGTGATGAGTATTGGAAATATCAGCCGGGCGGCAGCCTGGAGGCCAGATTTTGAAGGGAGATGCAAGGAGGGAAGGGCCAGGGCGAGATGCACAGCCCGGGCCTATACTGGCAGAGTCCCCATGAGAGTCAGTGTGGCCTGAGCAGAACTCAGAAGGGCATGGCATCTCTCCAGTGGGCAAACACCACTAAGCATGAGCACCGCCTCCGTGCCGGGCACTGTGCTAAGCACTAGGGATGCAGCAGTGAACAAGAGGGCTGGGTCCTGCCCTCCTGGAACTCGCATTCTAGGGAGGACACAGAGAGCACAAGGCCAGGCAATCTTCAGGAGGCAGAACAGACAAGCCCTGGTGCTGCCAAGATGGGGAGGGGCAGGTGGGGAGGGGAGGGGAACGCCTCCAAGCAGGAGGGTTGCCAAACTGTGAGTCAGCGACCACAGGAAGCCAAGCAGATCTGGACATCCACGTGGGTCTCTGGCCAAACAGGAAGTCAGAGTTCACCCTCTGATACACTTGGTTCCTGTTCTCTCTCTGCAAACAAGGGCACAATGATCTCATGGGGGTGGGGCCGGGAGAGGAAGCCGGGTTGGACAGAGGTGGTTTCCCAGTTTGTCTTTAACCAAGTCAAAGAGGCCTCTTACCAGCGGAATGACCTTCTCCTCTTCCCTGCATCTCTTCTTTAACCTCTGGTAACAAGTCTCAGGATTGGTCCAAAGGTAAACTGAGGTTAAAAGAATACGTGGCTCTCAGGACTCTGCTCATGGCTTGGAAGCAAAGCAGGCACACAGGCAAAGGCGGGAGGAAGGTCTGCACAGCTCGAGCAGGAAGCAGGGAGGGCCAGCTCTTGGCTTGACCACTGACCCTCCGCCTCGACTTTCATTCTCTTTCAGTGTCAGCGGCCCCGTGGGGTCGTTTTGAGGCTGAATGGGATTCTGTTCATAGACAGAGCTCAAAACAGGCCTCACACCCAGCAGGTCTCAGTGAATGTTCAGGCTCTGTCCTTCCTGTTCCTTTGCAAACTAGAAAAACCCATCAGATCACAGTGGATTTGGGTCTGAAAGTAGCTGAGCCAGGGAGGGAAGTTTAAAGAACAAAGGCCAGGGTTCTTCTCCATGAGAGACCAGAAGTCCCGAATTCTGTCTGCCCTCAGGGAGAAAGCTGAACTCCCATGGGGAAGGAACTGCCAAGGGCAAGTGCCTCACCCACTGCCCCCAAGGGTTGGGGCCCAGCCAAGCACATCCTCAAGGGACCCAGGAGAGAGACAAGAGAGGGAGGTGGGAGGGGTGCATCTCACCTATCAAATCAACAGACACGTCCATGTTCCTCAAGATCCAGTCAAACCATTCCGACAGAACTACATAGTCCACTTCTGGCATCTTCCCACTGCAATGAGAGTTGTAAGGGCTTATTCACCTAAGAGAAAACTTCTGGGCTATGCAATTCCCCCAAAAGGATCTTGAGACGGCTCTCAATGAAAGGAGTCACCAAGGGTACCAGGGCACAGTGTGATCCGTGCAATACTGGACATGCAGTGACAAGGACCCTAAGCATTCCCGACCTCCTGCTGCCTGGGAGCGGCTTATGGCACAATGCTGCAAGGGCCATGGCACGGAGTGATGGGAGAATTCACTTGGGATTGGAACTCTAAGCAGAGAAAGGGACTTTAAAGCTTGTACCCTGAGAACAGAGACAGTGCTCAGGTTAGGCAATGAATCAGCAAACCAATTTCACTTCTAGAAATTTATTTTGTGGACCAGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGAGGATCACTTGAGGCCAGAAGTTCAAGATCTGCCTGGGCAACATGGAAAGACCCCCATCTCTACAAAAACTACAAAAAAATTAACTAGGGGTGGTGGCGCATGCCTATGGTCCTAGCTACTCGGGAAACTGAGGCAGGTGGATCACTTGAGCCCAGGGGTTTAAGGCTGTAGTGGGTCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCTGACTCAAACAAAACAAAAAAATTTATTTTGTGAAAATAATCATGATGCTCACCGCGGCACTGTTTAAACCAATAAAAAACTAAATCTTGGTAAATCTATATAACAGAAAATTCACGCAGTAACTGAAGGATGATATTGTAAAATAATATTTAATGGCATGGAAAAATTTCAAATCTAATGTTCAGTGAAAGCAACAGGATCTAAAACTGTGTATATCCCAACCACATTTCCAAAAGTATTCACCAATGCATCTTGGAAAGGTGGGAAAGAAAAATATCAAAATGTAAAAAGTGCTTTTCTCAAGCTGCAGGACTACATGAGACTTTTCTTTTTTTCTTTATACCTTTTTGTATTTTCCAAATTTTAACAACACATTACTTCTCAAATCAGCAGTGGGAGTTGGGGAGCATTACTACATATTTTAGTTTTTATTTATTTTTTTTTTTTATTTTTTGAGACGTAGTGTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAAGCTCCGCCCCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTATTTTTTATTTTTTTAAGACAGAGTTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCAC
Task1_train_22782
An alteration has been detected in TK2 (thymidine kinase 2) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form
TACAGTTCTAATCAGAGCAGTACACAAACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCGACCTCTCCATCAACCGTACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGG
TACAGTTCTAATCAGAGCAGTACACAAACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCTCTGTGAATCGACCTCTCCATCAACCGTACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGG
Task1_train_22783
A variant was discovered in gene TK2 (thymidine kinase 2), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Mitochondrial disease
ATCAGAGCAGTACACAAACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCGACCTCTCCATCAACCGTACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTT
ATCAGAGCAGTACACAAACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCAACCTCTCCATCAACCGTACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTT
Task1_train_22784
This alteration occurs within gene TK2 (thymidine kinase 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
Pathogenic; Mitochondrial DNA depletion syndrome
AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCGACCTCTCCATCAACCGTACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTT
AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCGACCTCTCCATCAACCATACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTT
Task1_train_22785
Given a variant located on Chromosome 16 and affecting TK2 (thymidine kinase 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form
AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCGACCTCTCCATCAACCGTACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTT
AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCGACCTCTCCATCAACCATACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTT
Task1_train_22786
Gene TK2 (thymidine kinase 2) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Mitochondrial disease
AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCGACCTCTCCATCAACCGTACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTT
AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCGACCTCTCCATCAACCATACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTT
Task1_train_22787
Gene TK2 (thymidine kinase 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Mitochondrial disease
CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTT
CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATTCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTT
Task1_train_22788
Given a variant located on Chromosome 16 and affecting TK2 (thymidine kinase 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form
CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTT
CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATTCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTT
Task1_train_22789
Consider this mutation in TK2 (thymidine kinase 2) on Chromosome 16. Is this a benign change or a disease-causing variant?
Pathogenic; Mitochondrial DNA depletion syndrome
CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTT
CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATTCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTT
Task1_train_22790
This sequence change occurs on Chromosome 16, altering TK2 (thymidine kinase 2). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCAAGGCAGGAGGATCACTTGAGCCCAGGAG
CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCATAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCAAGGCAGGAGGATCACTTGAGCCCAGGAG
Task1_train_22791
An alteration has been detected in TK2 (thymidine kinase 2) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Mitochondrial disease
CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCAAGGCAGGAGGATCACTTGAGCCCAGGAG
CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCATAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCAAGGCAGGAGGATCACTTGAGCCCAGGAG
Task1_train_22792
A genetic alteration is present in TK2 (thymidine kinase 2) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Mitochondrial DNA depletion syndrome
CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCAAGGCAGGAGGATCACTTGAGCCCAGGAG
CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCATAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCAAGGCAGGAGGATCACTTGAGCCCAGGAG
Task1_train_22793
Gene TK2 (thymidine kinase 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form
CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCAAGGCAGGAGGATCACTTGAGCCCAGGAG
CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCATAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCAAGGCAGGAGGATCACTTGAGCCCAGGAG
Task1_train_22794
This gene mutation involves TK2 (thymidine kinase 2) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; Mitochondrial disease
AGCATAAACCATACTGTTTGCAGAAACAATTTAAGCAGAGAGCCACTGTTATCAGTTAGGAATGGTGGGGGCCCTCCCAAGATCTAAGTTCCCAGATGCCAGCCAAAGACCACCCTTGCAAGCAGGCATTTCTAAAGGGCAGCAGTCTTAGGTCTGCTATGTTAACTCTTTCCTGCACAGCAGCACATGAACACAGCAGGACAAGGGCTATATAATGTTTATTATTATTTTTATCAAACTATATATATTTCTTTTCTTTCTTTCTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGGGCCTCACTCTGTCACCCAGGTTGGAGTTCAACGGCACAGTCCTGGCTCACCACAGCCTCAACCTCCTGGGCTTAAATAATCCTCCCACCTCAGCCTCTTGAGCAGCTGGGACTACAGGCATGTGCCACCACATCCAGCTAAGTTTTGTATTTTTTGTAGACATGTGGTTTTGTCATGTTGGCCAGGCTACTCTTAAACTACTGGGCTCAGGTGATCCTCCCCCTTCAGCCTCCTAAAGTGCTGGGATTACAGGCATCAGCCACCACACCTGGCCATGCATATATTTCTAGCAGAAGTAAAAACAGGAAAGGAAGGGAAGAAGGAAAGAAAATGACTATAAAAGTATAGAAATTGTAGCTTCTGTAGTAACAAAAGAGAGCCATCAATAGAGAAGATTATACCACTAAAATCTAGAACAAGGAAGACAGGTCAATGTCTTAGTGTAGAGATGATTCTTAAACATCTCTGAGGTTAGTTTTAGTGACTAGGCTTTAAATGAACTAGAAATTAAATTAATTGCCTATGCATAGTAATACCCACTGCTCAGACATTGCTATCTCAGATGTCACACTTCTAGCCCTGCTCAATAGCCTGTCCTTTCTTCTTACCCATGTAGACTCTTTTCCTAACCAGACTTTGAGGCAGTCAACACTTGCACTGTCCAATACAGTGGCCATGAGCCACAGGCAACTATTAAGACCTTGAAATATGAGTAGTCCAAATTAAGATATGCTATAAGTTACACTTATTTTACAAATACAAACAGTTTGAGCATCCCTAATTGAAAAATCCAAAATCCTAAATGCTCCAAACTCCAAAACTTTCTGGAAACCGATATGACACTTCAAATGAAAAATTCCACACATAAATACTTAACACAAACTTGTTTCATTCACAAAATTATTTAAAATATTGTATAAAATTACCTTCAGGCTATGTATATATGAAACATAAATGAATTTCGTGTTTTGGCTTGGGTCCCATCCTCAAGATATCTCATTACATTTATGCAAATATTCCAAAATCTGAAAAATTCTGAAATCTAAAACACTTCTGGTCTCAAGCATTTCAGATAAGGGATGCTCAACCAGTATCATATTCCAAAGACTTAGTATAACAAGATAGAATGCAAAATAGCTCATTGATGATTTTTATATTGATTAAATGTTGACATGATCACATTTGGCATATGTTATGTGAAATAAAATGTCCTTTTTATTTTTTGTGGGTTTTTTTCTTTTTTTGAGACAGGGTTTCACTCCTGCTGCTCAGGATGCAATGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGAGCTACAGGCACGTACCACCATGCCTGGCATATTTTTGTAGAGATGGGGTCTCGCCATGTGGCCCAGGCTGGTCTGGAACTCCTGGGCTCAAGCAATCCACCTGCTTCCGCCTCCCAAAGTGCTAGGATTACAGGCTTGAGCCACTGCACCGGCCCCTTTTGTTTTTTTAATGAGGATATTAGAAATGTTAAATTACACCTGTGGCTTGCACTTGTGGCTCAAATTATAGTCCTATTGGACAAGGTTAGTCCACACCCTCTATAAATTATCCCATCAAGCTTTCTCCGCTTCCTTCAAACCTAGCATAGAGGCTGTACCTCGACGTCTGTCGCGTTGGAGAAGAATTCCAGGCATGTCGTCTTCCCACTTGCAATATTGCCCTCGACACAGATCTGGCAAAAGACGAATGCATATTAGAGCCAGAACTCAAGCACCCAGGGGAATGTCAGGGAATAATGGCTACGGAAAGGGCTCATGTAACCAGCATAATTGGTTCAGTCCAAGACTTTCACATGTAAACCAAAATCCCTCCTCGGGAAACTGGCAAGGTCCCATTGTTAGTAATAACAGATAAGCCGATCCTCCCTGAGTGGCAGGCTCATGTGGTCCCCCCAGACCAGATCCTCCTTTACGTCAACTCCTAAACCATACACAGCTTGTCTGCCCAGCCCAGCTCTGCCCTTCCTTAGTTCAACCCCACAGACTATTAGATTTTAGGCCTAAGTGTCCTGCCTCCTTAACGAGAGCTTAATCAATGGCTTTGAGGCTAGGAAACACATATATGTTATCTAGAATCGAATTCACTGCTTTACAGAAAAAAAAAGCACTTGGTCACTGACTGGAAACCATTAGGAAAGGGGAGAAGAAAAAAAGAGCAAGGACTTTGTTAAGCACCTTGTCACAGGCCAAGCCCTGAGACAGGTAACACACCATTATCACATGTAACCTCACTGAAACCTGAGAAGGGTAAGTCCTAACATTTTTCACAGAAAACAAAAATGAGGCTTGTAGAAGACAATAAAGCAAGGACAGCTTGAACCTAGACTCTGCTCACAATGACTGCACGTGGGAGGGAAAGGGGGTCATGGCACTAGTGGGAGGGGCCAGAAACAGCCTTCTGGGTCTACCTATACCAAAGACCAAGGAGCATCCTAGAAGTAACTCATCTTAGGGAGAGAAGGTATTCCAGGCAGCGGTTCTCAGCTCTGGCTATACGCTAGGACCACCTGGGACCTTTTAAAAATCTCTACAGGGATGCCACAGCCCAGACCAATTACACCACAATCTCTGGGAGTGAGACTCAAGACTCAGTAACTTTTTTTTTCTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCTGGAGCACAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTAGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCAAGCCTCAGTAACTTTTAAAGCTCTCCAGGCGATTTCAATGTGCAGGCAAGGATGGGAACCACGAGGCTGGAGCAGAGCTTCTCCCTGTCTAGTCCACAGATGCCTGCTTCAGATGCACCAGAGGAGCTGGTTAAACATGAGGTGGCACCAGGTAGCATCCAGACCCTAAATCAGACTCTAGGCTGGAGCCCTTGAACCTGTAGCCCAGTGATTCTGACCAAGCTCTGCTCAGCCAGGCACTGCTGATGACATAGGCCCAGTGGCTCTGGCTCCAGCAGATGGCCACAGGGAACGGGCAGCTCCAATACATAAGACAAACTGTCCCCTGAGAACACATTAGACATCCTCCAGGGGCACACACAGAGAGGGGCCCGACCTGCTGCACAGAGGCCTGTTCCTTTGCACTCAGGCTGGAAGCACCCAGAGAAACCTGGGCAACACAGGTAACTTACCCAAGTGCCAGACTTGGCTAGGGAAGAATCAGAATTAGAATTCACATCCAGGCCCCTTCTCACGACTCCTGATGGAGCCTCAGTCACACCTCACATAAACACCAGGTCACAGTGGGCCGTCTCACCCGACCCCACTAAAGTCTCCCCAGCAACTAGAACTCTGTCAGCTGGCGGAGAAGGTTCCTCCTGCCTTGATCCTAACGGGTATCCAGGAGACACAAGGCCACTCTCCCATCCTGGGTCCCTCCCAGCCCACTCCTTTAGAGCCCCAAACTACAAAATGAACCCAAGGGAATGAACAAAAGGGCATGAAAAGACCCCATTAGGGCACTAATGGATTTAATTTTTTTATTGCTCTTTAAAGAAAACTTT
AGCATAAACCATACTGTTTGCAGAAACAATTTAAGCAGAGAGCCACTGTTATCAGTTAGGAATGGTGGGGGCCCTCCCAAGATCTAAGTTCCCAGATGCCAGCCAAAGACCACCCTTGCAAGCAGGCATTTCTAAAGGGCAGCAGTCTTAGGTCTGCTATGTTAACTCTTTCCTGCACAGCAGCACATGAACACAGCAGGACAAGGGCTATATAATGTTTATTATTATTTTTATCAAACTATATATATTTCTTTTCTTTCTTTCTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGGGCCTCACTCTGTCACCCAGGTTGGAGTTCAACGGCACAGTCCTGGCTCACCACAGCCTCAACCTCCTGGGCTTAAATAATCCTCCCACCTCAGCCTCTTGAGCAGCTGGGACTACAGGCATGTGCCACCACATCCAGCTAAGTTTTGTATTTTTTGTAGACATGTGGTTTTGTCATGTTGGCCAGGCTACTCTTAAACTACTGGGCTCAGGTGATCCTCCCCCTTCAGCCTCCTAAAGTGCTGGGATTACAGGCATCAGCCACCACACCTGGCCATGCATATATTTCTAGCAGAAGTAAAAACAGGAAAGGAAGGGAAGAAGGAAAGAAAATGACTATAAAAGTATAGAAATTGTAGCTTCTGTAGTAACAAAAGAGAGCCATCAATAGAGAAGATTATACCACTAAAATCTAGAACAAGGAAGACAGGTCAATGTCTTAGTGTAGAGATGATTCTTAAACATCTCTGAGGTTAGTTTTAGTGACTAGGCTTTAAATGAACTAGAAATTAAATTAATTGCCTATGCATAGTAATACCCACTGCTCAGACATTGCTATCTCAGATGTCACACTTCTAGCCCTGCTCAATAGCCTGTCCTTTCTTCTTACCCATGTAGACTCTTTTCCTAACCAGACTTTGAGGCAGTCAACACTTGCACTGTCCAATACAGTGGCCATGAGCCACAGGCAACTATTAAGACCTTGAAATATGAGTAGTCCAAATTAAGATATGCTATAAGTTACACTTATTTTACAAATACAAACAGTTTGAGCATCCCTAATTGAAAAATCCAAAATCCTAAATGCTCCAAACTCCAAAACTTTCTGGAAACCGATATGACACTTCAAATGAAAAATTCCACACATAAATACTTAACACAAACTTGTTTCATTCACAAAATTATTTAAAATATTGTATAAAATTACCTTCAGGCTATGTATATATGAAACATAAATGAATTTCGTGTTTTGGCTTGGGTCCCATCCTCAAGATATCTCATTACATTTATGCAAATATTCCAAAATCTGAAAAATTCTGAAATCTAAAACACTTCTGGTCTCAAGCATTTCAGATAAGGGATGCTCAACCAGTATCATATTCCAAAGACTTAGTATAACAAGATAGAATGCAAAATAGCTCATTGATGATTTTTATATTGATTAAATGTTGACATGATCACATTTGGCATATGTTATGTGAAATAAAATGTCCTTTTTATTTTTTGTGGGTTTTTTTCTTTTTTTGAGACAGGGTTTCACTCCTGCTGCTCAGGATGCAATGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGAGCTACAGGCACGTACCACCATGCCTGGCATATTTTTGTAGAGATGGGGTCTCGCCATGTGGCCCAGGCTGGTCTGGAACTCCTGGGCTCAAGCAATCCACCTGCTTCCGCCTCCCAAAGTGCTAGGATTACAGGCTTGAGCCACTGCACCGGCCCCTTTTGTTTTTTTAATGAGGATATTAGAAATGTTAAATTACACCTGTGGCTTGCACTTGTGGCTCAAATTATAGTCCTATTGGACAAGGTTAGTCCACACCCTCTATAAATTATCCCATCAAGCTTTCTCCGCTTCCTTCAAACCTAGCATAGAGGCTGTACCTCGACGTCTGTCGCGTTGGAGAAGAATTCCAGGCATGTCGTCTTCCCACTTGCAATATTGCCCTCGACACACATCTGGCAAAAGACGAATGCATATTAGAGCCAGAACTCAAGCACCCAGGGGAATGTCAGGGAATAATGGCTACGGAAAGGGCTCATGTAACCAGCATAATTGGTTCAGTCCAAGACTTTCACATGTAAACCAAAATCCCTCCTCGGGAAACTGGCAAGGTCCCATTGTTAGTAATAACAGATAAGCCGATCCTCCCTGAGTGGCAGGCTCATGTGGTCCCCCCAGACCAGATCCTCCTTTACGTCAACTCCTAAACCATACACAGCTTGTCTGCCCAGCCCAGCTCTGCCCTTCCTTAGTTCAACCCCACAGACTATTAGATTTTAGGCCTAAGTGTCCTGCCTCCTTAACGAGAGCTTAATCAATGGCTTTGAGGCTAGGAAACACATATATGTTATCTAGAATCGAATTCACTGCTTTACAGAAAAAAAAAGCACTTGGTCACTGACTGGAAACCATTAGGAAAGGGGAGAAGAAAAAAAGAGCAAGGACTTTGTTAAGCACCTTGTCACAGGCCAAGCCCTGAGACAGGTAACACACCATTATCACATGTAACCTCACTGAAACCTGAGAAGGGTAAGTCCTAACATTTTTCACAGAAAACAAAAATGAGGCTTGTAGAAGACAATAAAGCAAGGACAGCTTGAACCTAGACTCTGCTCACAATGACTGCACGTGGGAGGGAAAGGGGGTCATGGCACTAGTGGGAGGGGCCAGAAACAGCCTTCTGGGTCTACCTATACCAAAGACCAAGGAGCATCCTAGAAGTAACTCATCTTAGGGAGAGAAGGTATTCCAGGCAGCGGTTCTCAGCTCTGGCTATACGCTAGGACCACCTGGGACCTTTTAAAAATCTCTACAGGGATGCCACAGCCCAGACCAATTACACCACAATCTCTGGGAGTGAGACTCAAGACTCAGTAACTTTTTTTTTCTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCTGGAGCACAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTAGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCAAGCCTCAGTAACTTTTAAAGCTCTCCAGGCGATTTCAATGTGCAGGCAAGGATGGGAACCACGAGGCTGGAGCAGAGCTTCTCCCTGTCTAGTCCACAGATGCCTGCTTCAGATGCACCAGAGGAGCTGGTTAAACATGAGGTGGCACCAGGTAGCATCCAGACCCTAAATCAGACTCTAGGCTGGAGCCCTTGAACCTGTAGCCCAGTGATTCTGACCAAGCTCTGCTCAGCCAGGCACTGCTGATGACATAGGCCCAGTGGCTCTGGCTCCAGCAGATGGCCACAGGGAACGGGCAGCTCCAATACATAAGACAAACTGTCCCCTGAGAACACATTAGACATCCTCCAGGGGCACACACAGAGAGGGGCCCGACCTGCTGCACAGAGGCCTGTTCCTTTGCACTCAGGCTGGAAGCACCCAGAGAAACCTGGGCAACACAGGTAACTTACCCAAGTGCCAGACTTGGCTAGGGAAGAATCAGAATTAGAATTCACATCCAGGCCCCTTCTCACGACTCCTGATGGAGCCTCAGTCACACCTCACATAAACACCAGGTCACAGTGGGCCGTCTCACCCGACCCCACTAAAGTCTCCCCAGCAACTAGAACTCTGTCAGCTGGCGGAGAAGGTTCCTCCTGCCTTGATCCTAACGGGTATCCAGGAGACACAAGGCCACTCTCCCATCCTGGGTCCCTCCCAGCCCACTCCTTTAGAGCCCCAAACTACAAAATGAACCCAAGGGAATGAACAAAAGGGCATGAAAAGACCCCATTAGGGCACTAATGGATTTAATTTTTTTATTGCTCTTTAAAGAAAACTTT
Task1_train_22795
This alteration in TERB1 (telomere repeat binding bouquet formation protein 1) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Azoospermia
TTTAAGGGCCTACTTTGGAAGAGCAACATTGGAACTGGACAGAAAGGGATCAAGAGGGGTAAACAGAAGTAGAACTACAGGTCTTAATGACTGACTTAATACAATGAGTGAAGGAGAATTAGGAGCTGAAATGACTAGTTTGAGGTCTGAATGACTAGGAGAAAAGCAATACTTTTAAGACCTTCACATAACTGGAAGAAAAAAAAAAACAGAAGTATATTTCCGCTTTACTATTTTAATAACCACACTCAATAAATCCAATACTTACCACAATCCTCTGTGCAATGACCAAGAGTAAGCATGATGCTAAATTTTTCTCCTGAATCCAGACTTTCATGAAGCAGTAATGCCAGAAGTTTAGAAACAATGTGGTACTTGGAGAGTACTATCCCAAAAGTAGCTATTAGTATAAAATAGGAAAAAAAGATAGTACAAATTTAAAACTTATAAATGTATATATACTATGTATTTTTCAGAGTTTATTCAGGCAGAATGTTATATATCTATATAAAATTAAATATACACATATCATAACATCTAATAAATATGTGTATGTGTGAATATAAATAAAATATAAATTCATTGTAATAAGATGGCGGCCTATTACTATAACCCTCATTACTCTTTCTTCCCATACTAAAGACATATTACTAAAGCAAATTTTTTGAAGAATTTTTTTCTTAATTGTTCTGCAGAATGCTGTGAAGATGAAGTAACACTAACTTCCTAAAAGCTGAGTATGCTTACTCTCCCCTTACATACCTCTTCTTATCTAGATTGGATAGTAAAGACTTTCCTACATAATCAGTTCCTGCTGTCATTTAAAATACACTATTAACTGACCACAGTTCTACTGACTTACTGATGCAATGAAGCATATGCAAAGCTATGCTGAGATGTGACAAAAGTCAAAAAGACCACCATTTTAAGCTATACTTCTCCAAATGTGGCTTTTAACAGAGTTCACCCAGAGTCTAACAATACTAATATCAACAAAAAAGTTGTGAATTCCTGAAGGGACTACATCTTAATCATTTTTGTACTTGTAAAGCTCCACACATAGCAGGTCCTCAATAACCACTTTTTAAAAAACCATCTATTTTTTGCTCCCTAGTTGTTTGTGAATAATAATAGAGTTTCTTACTCTTCAGTGTTTGCGCATGTGAGAAGCAGCAGCCATGAGTTCAAGTCTGGTTCTGCCACTCACTAGTAATGCTGTGTTGGGTAAATCTGACCTCATACTTAGCAGAAAGAGATGTATTCTTTACATAAATTGGGTTTTCCATTCTTAATCTCAAAAATATCCCTTGGTTTCTCATCTGAAAATTTTAAATTTTTTTTTTTTTGAGAGATGGAGTCTCGATATGTTGACCAAGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCTCCCATCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACACAGCCTGAAATTTTTAATTTAATGCTGCCTTTTTTTCCAGATGGAGTTTTGTACTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCCCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCTTGTCTTGGCCTCCTGAGTAGCTGGAATTACAGGCACCCGCCACCACGTTTGGCTAATTTTTGTATTTTTAGTAGAGATTAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGTCCAGCCATGTTGGATACTTTCTAATACTTCCTTCCACCTGTGAGAAACTTAGTCTAAACCATGTTACTATTCAATCTACTATTTCAACACTCTTCATGCTATATTCAAACAAAATTCAATTTCAAAAAAACTAGTAAGCACTGTCACTCACGATTATCAGCAATGCATGCATCCACAGTCTTCGTCACAACCACTGCAAGTTTAGCACTGGAAAGAGTCTCATGTGAATCAGATTCCAGCTGCATGAGAACTTGAGACAATACATCCAGTCCGCCCACAGATACGAAGTATTTCTGAACATATGCTTAAAGAATAAAGTAGCAAAACTATTAATATTTCAAACAAGACAGCTGAATGGTTTTATTCAATAAATCTGCATTAAATATAACATTGACCTTTTCAAATACTTTCTAAAAATCCCAAAATTAAAGAACTAAAAATCCAATCTTTACCTGTGCATATAATCATAAAATAGATTACTTATTATGTATCTTACTTTGACACAGTAAAACTACAGTATTTCTTGTGTACTAGAAATCTTTTTTGTTTCATTTAGTAAGAACTGCTCTATTTTGTAAGAATGGCATTATTAAGCTGTCCTTTAGGCCGAGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGATAGGCAGATTGCTTGAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTGAAACCCCATCTCTACTAAAAATAAAAATAATAAGCTGGGTGTGGTGGTGCATGCCTATAATCTCAGTTACTCAGGTGGCTGAGGCAGGAGGACCACTTGAACCTGGGAGGCAGAGGTTGCAATGAGCTGAGCTCACACTACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAACAAACAAACAAAAACAAAAGAAAAAAACAAAAAAAACACCTAACCCTCAACATTATTAAACAAGTCTTTCAATAGAGTTATAAAGAATATATTCATTCATTTATCTTGGTAATTAGCAAGCTGCCTATTTTCTGCAATCCAACATAACTAATTCCTCAGATTGACTCCTCAAGATGCAAAGTAATTTAACCGTTCTAAAAGAGCATACATCTCATCCATCATATTTACACCTAATTATTTTACTTCTTGGAGCATAAAATTATAACAGATCCCTGAGAGTCGTAACTATTCCAAGCAAAGATTCAATGACCGGTATCTATTTCTTTAAGTCTGAAGTCTTTTGTTCCCTAGTGGAAAATAATTCTGGGCCGGGCACCATGGCTCATGCCTTTAATGACTACAGGCGTGCACCACCATGCCTAGCTAGAAATTTTTGTATTTTTGGTAGAGACAGGGTTTGACCATGTTCCCCAGGCTGGTCTCAAACTCCTGAACTAAAGCAACCTGCCTGCCTCGGCCTCCCAAGGTGTTGGGATTACAGGCGTGAGCCATGGCGCCCAGCCCAGAAACATTATTTAAGGGCAGGCAAACATTTTCAATATTATGGTGGCTCCAAAATAGACTTCTTTCCTAGAAAGTATTTTCATTTTTTAAAAATCTTCAAAAAAGAGGCTGGGTGTGGTAGTAGCTCATGTCTGTAATCCTAGCATTTTTGAGAGGCTGAGGCAGGAGGATTGCTTGAATTCAGAAGTTCAATATCAGCCTGGGCAACATAGTGAGACCCCATCTCTACAAAATAAAAAAAAAAAATTGAAAATTAGCCAGGCTCAGTGGTGTGTGCCTGTAGTCCCAGCACCTCAGGAGGCTAAGGCAGGGGGATCACTTAGGCCTAGAAGTTTGAGGCTGCAGTGACCCATGATTGTGCCACTGTACTCTAGCTGGGGTGACAGAGTGAGTGAGACTCTAGCTCAAAAAAAAAAAAAGCACTTGTTAATGCATTGATGAAAATGGCAGTGTGTTACCACAGATTCTTAGTTATAGCCTAAGTGACAAAAACTCAGGCATATAAGCAGAAGAACATCCTAGACCACATTTATTGTACACTGAATATTTCAGATTTCCTCTGATCTGTAGTTTACTGAGGGTAATGACGTCCTATAACTATCACTCATTAAAGTTGGCTTTTAGAGATAAAGGGACTGTTAGGGTATCACGGAAATAGATTCCAATTTTTTTTGAATTCTAGAGATACATCCTTTGCATGTGACATATGAGTATTCGTTTCAAACACTTGAATATAGATATACATCAGCAATGTGTGAAAGTTCTAGTTGTTCCACATCCTTGCCAATATTTAACATGACCACTTTTTAACATGCTAGTGGTGTGTAGTAGTATCTCCATGGGATTTTAATTTGGATTTCTCT
TTTAAGGGCCTACTTTGGAAGAGCAACATTGGAACTGGACAGAAAGGGATCAAGAGGGGTAAACAGAAGTAGAACTACAGGTCTTAATGACTGACTTAATACAATGAGTGAAGGAGAATTAGGAGCTGAAATGACTAGTTTGAGGTCTGAATGACTAGGAGAAAAGCAATACTTTTAAGACCTTCACATAACTGGAAGAAAAAAAAAAACAGAAGTATATTTCCGCTTTACTATTTTAATAACCACACTCAATAAATCCAATACTTACCACAATCCTCTGTGCAATGACCAAGAGTAAGCATGATGCTAAATTTTTCTCCTGAATCCAGACTTTCATGAAGCAGTAATGCCAGAAGTTTAGAAACAATGTGGTACTTGGAGAGTACTATCCCAAAAGTAGCTATTAGTATAAAATAGGAAAAAAAGATAGTACAAATTTAAAACTTATAAATGTATATATACTATGTATTTTTCAGAGTTTATTCAGGCAGAATGTTATATATCTATATAAAATTAAATATACACATATCATAACATCTAATAAATATGTGTATGTGTGAATATAAATAAAATATAAATTCATTGTAATAAGATGGCGGCCTATTACTATAACCCTCATTACTCTTTCTTCCCATACTAAAGACATATTACTAAAGCAAATTTTTTGAAGAATTTTTTTCTTAATTGTTCTGCAGAATGCTGTGAAGATGAAGTAACACTAACTTCCTAAAAGCTGAGTATGCTTACTCTCCCCTTACATACCTCTTCTTATCTAGATTGGATAGTAAAGACTTTCCTACATAATCAGTTCCTGCTGTCATTTAAAATACACTATTAACTGACCACAGTTCTACTGACTTACTGATGCAATGAAGCATATGCAAAGCTATGCTGAGATGTGACAAAAGTCAAAAAGACCACCATTTTAAGCTATACTTCTCCAAATGTGGCTTTTAACAGAGTTCACCCAGAGTCTAACAATACTAATATCAACAAAAAAGTTGTGAATTCCTGAAGGGACTACATCTTAATCATTTTTGTACTTGTAAAGCTCCACACATAGCAGGTCCTCAATAACCACTTTTTAAAAAACCATCTATTTTTTGCTCCCTAGTTGTTTGTGAATAATAATAGAGTTTCTTACTCTTCAGTGTTTGCGCATGTGAGAAGCAGCAGCCATGAGTTCAAGTCTGGTTCTGCCACTCACTAGTAATGCTGTGTTGGGTAAATCTGACCTCATACTTAGCAGAAAGAGATGTATTCTTTACATAAATTGGGTTTTCCATTCTTAATCTCAAAAATATCCCTTGGTTTCTCATCTGAAAATTTTAAATTTTTTTTTTTTTGAGAGATGGAGTCTCGATATGTTGACCAAGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCTCCCATCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACACAGCCTGAAATTTTTAATTTAATGCTGCCTTTTTTTCCAGATGGAGTTTTGTACTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCCCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCTTGTCTTGGCCTCCTGAGTAGCTGGAATTACAGGCACCCGCCACCACGTTTGGCTAATTTTTGTATTTTTAGTAGAGATTAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGTCCAGCCATGTTGGATACTTTCTAATACTTCCTTCCACCTGTGAGAAACTTAGTCTAAACCATGTTACTATTCAATCTACTATTTCAACACTCTTCATGCTATATTCAAACAAAATTCAATTTCAAAAAAACTAGTAAGCACTGTCACTCACGATTATCAGCAATGCATGCATCCACAGTCTTCGTCACAACCACTGCAAGTTTAGCACTGGAAAGAGTCTCATGTGAATCAGATTCCAGCTGCATGAGAACTTGAGACAATACATCCAGTCTGCCCACAGATACGAAGTATTTCTGAACATATGCTTAAAGAATAAAGTAGCAAAACTATTAATATTTCAAACAAGACAGCTGAATGGTTTTATTCAATAAATCTGCATTAAATATAACATTGACCTTTTCAAATACTTTCTAAAAATCCCAAAATTAAAGAACTAAAAATCCAATCTTTACCTGTGCATATAATCATAAAATAGATTACTTATTATGTATCTTACTTTGACACAGTAAAACTACAGTATTTCTTGTGTACTAGAAATCTTTTTTGTTTCATTTAGTAAGAACTGCTCTATTTTGTAAGAATGGCATTATTAAGCTGTCCTTTAGGCCGAGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGATAGGCAGATTGCTTGAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTGAAACCCCATCTCTACTAAAAATAAAAATAATAAGCTGGGTGTGGTGGTGCATGCCTATAATCTCAGTTACTCAGGTGGCTGAGGCAGGAGGACCACTTGAACCTGGGAGGCAGAGGTTGCAATGAGCTGAGCTCACACTACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAACAAACAAACAAAAACAAAAGAAAAAAACAAAAAAAACACCTAACCCTCAACATTATTAAACAAGTCTTTCAATAGAGTTATAAAGAATATATTCATTCATTTATCTTGGTAATTAGCAAGCTGCCTATTTTCTGCAATCCAACATAACTAATTCCTCAGATTGACTCCTCAAGATGCAAAGTAATTTAACCGTTCTAAAAGAGCATACATCTCATCCATCATATTTACACCTAATTATTTTACTTCTTGGAGCATAAAATTATAACAGATCCCTGAGAGTCGTAACTATTCCAAGCAAAGATTCAATGACCGGTATCTATTTCTTTAAGTCTGAAGTCTTTTGTTCCCTAGTGGAAAATAATTCTGGGCCGGGCACCATGGCTCATGCCTTTAATGACTACAGGCGTGCACCACCATGCCTAGCTAGAAATTTTTGTATTTTTGGTAGAGACAGGGTTTGACCATGTTCCCCAGGCTGGTCTCAAACTCCTGAACTAAAGCAACCTGCCTGCCTCGGCCTCCCAAGGTGTTGGGATTACAGGCGTGAGCCATGGCGCCCAGCCCAGAAACATTATTTAAGGGCAGGCAAACATTTTCAATATTATGGTGGCTCCAAAATAGACTTCTTTCCTAGAAAGTATTTTCATTTTTTAAAAATCTTCAAAAAAGAGGCTGGGTGTGGTAGTAGCTCATGTCTGTAATCCTAGCATTTTTGAGAGGCTGAGGCAGGAGGATTGCTTGAATTCAGAAGTTCAATATCAGCCTGGGCAACATAGTGAGACCCCATCTCTACAAAATAAAAAAAAAAAATTGAAAATTAGCCAGGCTCAGTGGTGTGTGCCTGTAGTCCCAGCACCTCAGGAGGCTAAGGCAGGGGGATCACTTAGGCCTAGAAGTTTGAGGCTGCAGTGACCCATGATTGTGCCACTGTACTCTAGCTGGGGTGACAGAGTGAGTGAGACTCTAGCTCAAAAAAAAAAAAAGCACTTGTTAATGCATTGATGAAAATGGCAGTGTGTTACCACAGATTCTTAGTTATAGCCTAAGTGACAAAAACTCAGGCATATAAGCAGAAGAACATCCTAGACCACATTTATTGTACACTGAATATTTCAGATTTCCTCTGATCTGTAGTTTACTGAGGGTAATGACGTCCTATAACTATCACTCATTAAAGTTGGCTTTTAGAGATAAAGGGACTGTTAGGGTATCACGGAAATAGATTCCAATTTTTTTTGAATTCTAGAGATACATCCTTTGCATGTGACATATGAGTATTCGTTTCAAACACTTGAATATAGATATACATCAGCAATGTGTGAAAGTTCTAGTTGTTCCACATCCTTGCCAATATTTAACATGACCACTTTTTAACATGCTAGTGGTGTGTAGTAGTATCTCCATGGGATTTTAATTTGGATTTCTCT
Task1_train_22796
Given this variant in gene NAE1 (NEDD8 activating enzyme E1 subunit 1) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
TGCCGGGTTCAAATGATTCTCATGCCTCAGCCTCCCAAGAAACTGAGACTACAGGAGTGCGCCACCACACACAGCTAATTTTTTCTATTTTTAGTTTCAGTGTTGGCTAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCAATAATAGGTCACATTTATTGAGCATTAATAGATGCTGGACACTGTTCTAAGGACCTTATATCTATATTAATTGATTGAATCCTCAAAACAGTCCTATGAAGTATGTATAGTTATCTCCATTTATAGAAGAGAAAACTAAAGCACAGAGAGATTAAGTTACTTAGCTCATAAGTGATGCTGTATGACTTCCAAAGCTAGGTCATAAAAAGCCCTGTACCTTCCACTTGGGTTTTTTGGAATGTTAACTGCAGAAGCCAACTGACATGCCAAAAGGAAGTCCAAGCTAGCCACGTGAAGAGATACCTGACCAGCCGCCAGCTATTCCCACTGTTCTGACTAAGGTGCTAGTTACATGAGTAAAAATGTCTTCTTGCATGTCTAACTCAGTCAGTCAAGCCTTCAGAATGACTCCACCCCCAGGCTCAAGCAACTGCATGCCTCCCCAAGGAGAACTGCCTGAGACCAGGCAACCCACAAAATCACGACACTATTTATTGTTTTAAACCACTAAGTTTTGAAGTGGTTTGTTATGCAACAGATAACTGAAATAAATACTAATCAAATAATACAAATAAAGCAATACATATTTGGTGTTTATTCTTTTTTTTTCTTCTAGTAAGCTTGCTTGTTAGGACTATAAACTCTGGGCAGCGCAGTGGCTCATGCGTGTAATCCCTGCACTTTGGGAGGCCAACACAGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGAGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCGAGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAACTGCTTAAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAGAAAAAAAAAAAAGACTATAAACTCTGGAGACACACTGTATCAGATGGAGCAGCAGGTTTTATGATACCCCTAGAATGTGTTGCTATGCAATAATCCTGCACAATTAAAATTATCATCCCAAAGAAAAATATTCTGAGCAACCTCAGATCTTTGAGATTATGCCAATTCTCCAATGACTACATTTGCTGAAGATAAAAAGTAGATAACTAAACAAAGAAATTCCTACATCTTCAGAGTTATTGAGTTCAGAAATTAGTAGCATACTTTTTTTTTTTTTTGAGACAGTCTCACCACAGTCACCCAGGCTGGAGTTTAGTGGCACAATCACAACTCACTGTAGCCCCAACTTCCCAGGCTCAGGTGATCCTCCCGAGTAGCTGAGTCTACAAGTGCACACCACCATGTCTGGCTAATTTTTTGTATCTTCAGTAGAGATGGGGTTCCACCATGTTGCCCACGCTGGTCTCCAACTCCTGGGCTCAAGCAATCTGCCTGAATCAGTCTCCCAAAGTGCTGGCATTACAGACGTGAGCCACCGTACTATGCCTGGCCAGCATATTTCTTGTGGCTTTCCTATTCCACTAAATTAAACTCAGTGTGAGTCTTAGTAACAAACTATGGAAAATGACAGAAAAAAGTTTTCTTCTATACATATTCAACCAACATCCCCCTGTAATAGTTTAGAATCGAACACTATTTTGCAAATAGTTAAACTTAAAAAACAAAAGGTGGTTCTTCACTGGGGAACGTTTGGGGTGTAATCTGTTTACAATGTGAAATTCAAGCAACACTATTATAAATACCCTGAGAACACTTTCAATTTAAATGTTTTATTGAAGATCTTATTATATCTGGTAATTCAATTGCTATTCTTACCTGGATATCTACCCTGTTGTTTATGAAATCTATCAACAGCCCGTAACATTAAGTACAACACTATTTCATTATCTGGATTGTCCATGCTAGAAACTGAAAGGAAAAAAAATTTCAGTTTAATTTGGTTAATTTGCAATGTAACAAACAATGAAGGGCTGAATTTACTATATACTTGAGTTTCAGGACTATTAACTGGAGTCACACAATCTCTACTGAAGTAGTAACATACTGACTTTAACTCATACATATCACACAATGGACTCAGTGACCTAAATATGACTTTATGCATACATTAAGTTTCATATAATATATAAATTATAATTACCTAGATAAGCTTAGAATAAAATTAGAATATGTTTACGTTATCTTTAATATCATCACCATATACTCAACACTATTATACACAAAATATTTATATCTTTTAAATTAATTAAAATTAACCCAGAATCAGAAGGCTATTATACTTACTAATTTCATCCTTGTTAATTGTATCCAAACCATATTCTTCAGCTAAGGATCGACATCTTACCACTCGAAGAAATGCAGAATTGCTGCCTGAACAGAGGAAAGATATTCTGGAAGTAATGACTGTGACTGGTGAATATTATGAATCACAGGTGACTTTAAGAACAGAGAATTATGTGTATACCCTTCTCAGACATGAGAATGTGAAGAAATGTTTTCTCCTTGGTTCTAATAGCAGAGAAAGCACTAGAACATGAATCACCTTAAATTTATATCCCTGGCACTACAACCAGTTCAGAAGCAAGTAAGGTGATGGCCTCTCTGAACCTCAGTTTTCAAGTGTAAAATGGGGATGATACTGTTTACCTTTGAGAATTGTTCTACAGATTAAATGTGACATCTGTATAAAGTGCATCTCTAGCACAATGCCTGATATGGCTCTAAAAATAATAGTTTTCATCATTATTATGGATAAGTAGTCCTAAAGGAGAGAGGTTTATGAATTGTACTCTTGATATATGTAATGACTTTAAGCTTTGTATTATTGAAATTTTCAAAAACGCCCCAAAGTAGAACAGAATAATAAATGTTCAAATACCCAGCATCAAACTTGTGATCTAGTATTATATAATCTAATACAACAAACGCTAATTCAAGATTAGTCTAATAGAACAAACAAGGTGCAAGATTAGTAGTGGCAGAAAACATTAAAACCGAGCCTAAACAGACATTGTGGAGAAGTCATAAAATGGAAAGCTTGGATAAATCTATTTTAAGGATGGGGAGCATGCAAAATATAAACTTCCACAGGACGTAGGAGCAGTAGCTACAGGGAGAAATCTTCAGATGGCATGCACAACAGATTGGGTATTTTGAAACTGACTCTTAAATAAAAGAAAATGCTTTTGGCCTACTGAGGAGTTACTGAGAAGACTCCTACGAACCTAACCACTCCGAAACTAGATGGCAAAATTCTTAACTCCATTACAGTCATTTAACACAGATCAAAATGAGTATTTAAACCAATATTGTCAATGTACATGTGACTCAAGACTTCACACCCAAAGTCTTCAGACAAAAAAACTTCCTAAATTACTTAAAATTTAAAAACTGAAAATCCTGTATTAATGGCAATTTTCAATTAACTGACCGTCAAGCCTTTTTAGCATTGCCACAGATAAACATGTTCTACCTCTGATTCAGTCTTAAAATACTCGCCATGTATTGTATTATGAGAGGAAAAAAAAAACCTTACCCAATAATTATCTATATCTATATCACTGAGGCCATGGAAAACTTAAAATTTCAACCATTCAAAATACCTGGGAACATTCCCTGTGGCACATTTCTATCAAGCAAAATAAGGAAATTAATTCAAGGGGACTTACAGAGTAATTTTAATTCTTTCTCTGAAATGGACTCTGGTGCCTGTAAAGAGATAAATACAGATTCTGTTCCAGTTTAAAAGAGAAGATTAACAAAGGGTGCGGCACAAAGCCAATCACTGTGAGATGGGAAGGCTTTCTCCAAGAGCTGGGAGAGCACTTTAAAAATATCTTGTTTCCTTATCACAAGCTATCCCATTAGGCAGGGAAATGACAGCTCCCTCTAAAGAAGCACAGAG
TGCCGGGTTCAAATGATTCTCATGCCTCAGCCTCCCAAGAAACTGAGACTACAGGAGTGCGCCACCACACACAGCTAATTTTTTCTATTTTTAGTTTCAGTGTTGGCTAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCAATAATAGGTCACATTTATTGAGCATTAATAGATGCTGGACACTGTTCTAAGGACCTTATATCTATATTAATTGATTGAATCCTCAAAACAGTCCTATGAAGTATGTATAGTTATCTCCATTTATAGAAGAGAAAACTAAAGCACAGAGAGATTAAGTTACTTAGCTCATAAGTGATGCTGTATGACTTCCAAAGCTAGGTCATAAAAAGCCCTGTACCTTCCACTTGGGTTTTTTGGAATGTTAACTGCAGAAGCCAACTGACATGCCAAAAGGAAGTCCAAGCTAGCCACGTGAAGAGATACCTGACCAGCCGCCAGCTATTCCCACTGTTCTGACTAAGGTGCTAGTTACATGAGTAAAAATGTCTTCTTGCATGTCTAACTCAGTCAGTCAAGCCTTCAGAATGACTCCACCCCCAGGCTCAAGCAACTGCATGCCTCCCCAAGGAGAACTGCCTGAGACCAGGCAACCCACAAAATCACGACACTATTTATTGTTTTAAACCACTAAGTTTTGAAGTGGTTTGTTATGCAACAGATAACTGAAATAAATACTAATCAAATAATACAAATAAAGCAATACATATTTGGTGTTTATTCTTTTTTTTTCTTCTAGTAAGCTTGCTTGTTAGGACTATAAACTCTGGGCAGCGCAGTGGCTCATGCGTGTAATCCCTGCACTTTGGGAGGCCAACACAGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGAGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCGAGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAACTGCTTAAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAGAAAAAAAAAAAAGACTATAAACTCTGGAGACACACTGTATCAGATGGAGCAGCAGGTTTTATGATACCCCTAGAATGTGTTGCTATGCAATAATCCTGCACAATTAAAATTATCATCCCAAAGAAAAATATTCTGAGCAACCTCAGATCTTTGAGATTATGCCAATTCTCCAATGACTACATTTGCTGAAGATAAAAAGTAGATAACTAAACAAAGAAATTCCTACATCTTCAGAGTTATTGAGTTCAGAAATTAGTAGCATACTTTTTTTTTTTTTTGAGACAGTCTCACCACAGTCACCCAGGCTGGAGTTTAGTGGCACAATCACAACTCACTGTAGCCCCAACTTCCCAGGCTCAGGTGATCCTCCCGAGTAGCTGAGTCTACAAGTGCACACCACCATGTCTGGCTAATTTTTTGTATCTTCAGTAGAGATGGGGTTCCACCATGTTGCCCACGCTGGTCTCCAACTCCTGGGCTCAAGCAATCTGCCTGAATCAGTCTCCCAAAGTGCTGGCATTACAGACGTGAGCCACCGTACTATGCCTGGCCAGCATATTTCTTGTGGCTTTCCTATTCCACTAAATTAAACTCAGTGTGAGTCTTAGTAACAAACTATGGAAAATGACAGAAAAAAGTTTTCTTCTATACATATTCAACCAACATCCCCCTGTAATAGTTTAGAATCGAACACTATTTTGCAAATAGTTAAACTTAAAAAACAAAAGGTGGTTCTTCACTGGGGAACGTTTGGGGTGTAATCTGTTTACAATGTGAAATTCAAGCAACACTATTATAAATACCCTGAGAACACTTTCAATTTAAATGTTTTATTGAAGATCTTATTATATCTGGTAATTCAATTGCTATTCTTACCTGGATATCTACCCTGTTGTTTATGAAATCTATCAACAGCCTGTAACATTAAGTACAACACTATTTCATTATCTGGATTGTCCATGCTAGAAACTGAAAGGAAAAAAAATTTCAGTTTAATTTGGTTAATTTGCAATGTAACAAACAATGAAGGGCTGAATTTACTATATACTTGAGTTTCAGGACTATTAACTGGAGTCACACAATCTCTACTGAAGTAGTAACATACTGACTTTAACTCATACATATCACACAATGGACTCAGTGACCTAAATATGACTTTATGCATACATTAAGTTTCATATAATATATAAATTATAATTACCTAGATAAGCTTAGAATAAAATTAGAATATGTTTACGTTATCTTTAATATCATCACCATATACTCAACACTATTATACACAAAATATTTATATCTTTTAAATTAATTAAAATTAACCCAGAATCAGAAGGCTATTATACTTACTAATTTCATCCTTGTTAATTGTATCCAAACCATATTCTTCAGCTAAGGATCGACATCTTACCACTCGAAGAAATGCAGAATTGCTGCCTGAACAGAGGAAAGATATTCTGGAAGTAATGACTGTGACTGGTGAATATTATGAATCACAGGTGACTTTAAGAACAGAGAATTATGTGTATACCCTTCTCAGACATGAGAATGTGAAGAAATGTTTTCTCCTTGGTTCTAATAGCAGAGAAAGCACTAGAACATGAATCACCTTAAATTTATATCCCTGGCACTACAACCAGTTCAGAAGCAAGTAAGGTGATGGCCTCTCTGAACCTCAGTTTTCAAGTGTAAAATGGGGATGATACTGTTTACCTTTGAGAATTGTTCTACAGATTAAATGTGACATCTGTATAAAGTGCATCTCTAGCACAATGCCTGATATGGCTCTAAAAATAATAGTTTTCATCATTATTATGGATAAGTAGTCCTAAAGGAGAGAGGTTTATGAATTGTACTCTTGATATATGTAATGACTTTAAGCTTTGTATTATTGAAATTTTCAAAAACGCCCCAAAGTAGAACAGAATAATAAATGTTCAAATACCCAGCATCAAACTTGTGATCTAGTATTATATAATCTAATACAACAAACGCTAATTCAAGATTAGTCTAATAGAACAAACAAGGTGCAAGATTAGTAGTGGCAGAAAACATTAAAACCGAGCCTAAACAGACATTGTGGAGAAGTCATAAAATGGAAAGCTTGGATAAATCTATTTTAAGGATGGGGAGCATGCAAAATATAAACTTCCACAGGACGTAGGAGCAGTAGCTACAGGGAGAAATCTTCAGATGGCATGCACAACAGATTGGGTATTTTGAAACTGACTCTTAAATAAAAGAAAATGCTTTTGGCCTACTGAGGAGTTACTGAGAAGACTCCTACGAACCTAACCACTCCGAAACTAGATGGCAAAATTCTTAACTCCATTACAGTCATTTAACACAGATCAAAATGAGTATTTAAACCAATATTGTCAATGTACATGTGACTCAAGACTTCACACCCAAAGTCTTCAGACAAAAAAACTTCCTAAATTACTTAAAATTTAAAAACTGAAAATCCTGTATTAATGGCAATTTTCAATTAACTGACCGTCAAGCCTTTTTAGCATTGCCACAGATAAACATGTTCTACCTCTGATTCAGTCTTAAAATACTCGCCATGTATTGTATTATGAGAGGAAAAAAAAAACCTTACCCAATAATTATCTATATCTATATCACTGAGGCCATGGAAAACTTAAAATTTCAACCATTCAAAATACCTGGGAACATTCCCTGTGGCACATTTCTATCAAGCAAAATAAGGAAATTAATTCAAGGGGACTTACAGAGTAATTTTAATTCTTTCTCTGAAATGGACTCTGGTGCCTGTAAAGAGATAAATACAGATTCTGTTCCAGTTTAAAAGAGAAGATTAACAAAGGGTGCGGCACAAAGCCAATCACTGTGAGATGGGAAGGCTTTCTCCAAGAGCTGGGAGAGCACTTTAAAAATATCTTGTTTCCTTATCACAAGCTATCCCATTAGGCAGGGAAATGACAGCTCCCTCTAAAGAAGCACAGAG
Task1_train_22797
The gene NAE1 (NEDD8 activating enzyme E1 subunit 1) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
CAGGCTGACTACCTCCCATGTAAGGTCATACTTCTTTCTATCCTCAATTGACCTTCCCCAAGTTTTAAGTAGTTGAACTCTTAGGCTAGGACAACAAACCAAGATTCGTTCAATGGTGACATGATAAAGAGTGAAATCTGTCTGGGGAAGAGAGATCATCTCTGTGTGACATTACTTGGACCCCAAAGAAACCGAGCCAGCAGACCTGGATTCTTTGCACCATGCCCTAACTATACGAGGGTCATATTCATTGAGACCCATCCCTGTGATAGTCTATCTGGGTTCAGGCTAGTGATACCTGGATAGCAAGATGTCTAGCTATAGTCATAGACTATAACTTATGAAACATTAAGATAAAAAATTCATCAAACCTTCATGGTTTTAAGTTACAAATACAAGGTAGTATAGGGCCATAGCTAAGCATACAGGCTCTGGTACTGGGTTTCCTGGGGTTCAAATCTTGGTTCTGCCATTTACCAGCTATCTGACCTTGTATAAGTAACCTTTTCAATACCTTAGTTTCTTCATGTGTAAAATGGGGCCGGTAACAGTCTCTCTCTCTCTCATAAGGTCGTTGTGAACCTTGTGTGTGTGTTAAATTACTTAATACATATAGTTCATAGCACAGAGTTAAGGGATCAAATATTAAGTTTATCATGAAGTATGAAAAAAAACTCTGCCTCCTAGGCGTATGTGGTAATTCTGTATTTCCCATTCAATTTTGCTTTGAGCTTAACAAGAATTGCCCCCTAAGTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGACTCTTGCTCTGTCTCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGTCTCCTGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGTGCGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTTCTGACCTTGTGATCCACCCGTCTCGGCCTCCCGAAGTGGTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTAAGTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGTCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTGGTCTAAGTTCTTCAGCTTATTTTTACTTATTTATTTGAAACAGGGTCTTGCTCTGTCACCCAGGCTGAAGTGAAGTGGCATGATCATGGCTCACTGCAGCCTCAAACTCCTGAGCTCAAGAGATCCTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTAAAGGCGAACACTACCATGCCCACCTAATTTTTCAATTTGTAGAGATGGAAGTCTCACTATGTTGCCCACGATGGTCTCAAACTCCTGGACTCAAGCAATTCTCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGCAGCTGGCCTAGTTTATTTATAAGCAATGAGGTTGTAATAAACTTTCATTTGATTTCTGACAGGATGATAAAATGTTTATCTCTAATATAATCAGACTTTTTCTATTACATAGTTTGAAAACAGTGACATACACGTTTTGCAGTTTTATATATTTGCCTGAATCTGCAATCATATCAGGAATTGTGCCTCGAACAGGTAAATTTCCTTGACCCTCTTTGGCCACAAATTCCTTTAAGGCACGAGCTAAAATCCAAAATGATGGAGTCTAAAAGAATAAGAAAAAATTAACATTAAGTGGCGTTTTACTTTGACCCAAAGTTTTAGCAGCAATGTTTTTACTTTTGTTGTTGTTACCTGTTTGGTGATATTTATGCAGCGATCATCATTAAATATATCTTCAATACTGCTTGGGATCTAACAAAGGAACATGAAACATTTACTTACACAGTATTAAGAATTCGCCCATCTTTATTTTCAGTGCTATTTCTTCAGATATGTTCTTTGAATTCTCAAATTGTAATCAAATACAAACTTCTGATTGGTTTATAATTTTATTTAGAATCAGTACCATATGAAGATTTGATGGGGAAAGAATGGAAGAAAGACCTCTCCGGCCCACTGTTGCTACCATTTAATACCTATTCTCTTATACCATAAATGGGGTAAAGAAGGGGCCCCAGTAAATTATTTTATATAGTTACATCTGAAGACAAAACAGATTATAGACTCGCAGTATATCATGATTTTCCATCTTGTCAAAAATCTGAAACCCTTGCACCCTAATTAGTGACCGTTGAGACAACCACTCTGAAAAAAACTAAAACCATAAAGTAATTTTATTGCTAGCAAGATCTTCATACGTTAATCAAGAGTATAAAGCTGAGCACAATGGCTCATATCTATAATCCCAGCATTCAGGAGGCCAAGGTGAGAGGGTCATTTGAGCCCAGGAGTTTGAGACCAACCTGAACAAAACAGGAAGACCCCGTCTATAGAAAACATAAAAGTAAATTAGCTGCGCGTGGTGGCACGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGGGGATCACTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGTCACTGCATTCTACCCTGGGCACCAATGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATACACACACACACACACACAAATCATAGGCTTGGATTCTACTGATGGGTGGAAAAAAGAAATGTCTCAGTGGGACCTCCTAACTGCTCTCTCTGCTTCCACTCCCAGTCCCCTCAATTGTGTTCTCCTCATGAAAGCCAGAATGGTCTTTTAGAATACAAAGCAGCTCAATCCACTTCCCTGACTGAAATGCTTAAATAGCCTGCAAGGCCTTTATGATCTGGCCCTTTCTGCCTCTCCAAACTCAAATCCTTCCTACCACTTTTCCCCCTTTTACACTTCACTCCAATCACACTGACTTGCTTACTGATGCTTGAACAAAAGTCAAGCTTCATCCCACTTCTGGGCCTTTGCACATGTGCTCCCTCCAACTGAAAAGCTCTTCCACCAGACCTCTGCGTGTCACTTCACTCAGGCTTCTGCTTAAATGTCTTTTGGAAAGTCTCCCTGGCTCCCTATGTACAATTGTCTCTCAACCCCGGATTCCCTTGTCCCCAGCATGCTCTCTGACCCTTTGTTCTGCTGTAATTTTGTTCACAGCACCTGGTGCATTTTTATCTGTTTATTTAGCTTACTGCCCCCCAACTATTAGAATCTTTTCTTTTCAACTGTGGTTTTATATTCAGTGAAATACAGAGATTTCAAATGTCCAATTCAATGCATTTTGATAACTATATATACATATTTTTAACCATAACCCCAATTAAAACAGAAAATGTTCATCACCCCAGAAAAGTGATTCACAAAGCACATTTATTTTTTGGACACAGGGTCTCATATCATTGCCCAGGCTGCAGTGCAGTGGCACAATCATGGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGCGATCCTCCCACTACCTTAGGCTCCAGAGTAGCTGAGACTACAGGTGCATGCCACCACACCCATCTAATTTTTAAATTTTTTGTAGAGACAAGATCTCCCTACGTTGTCCAGGCTGGTCTTGAACTGGGCTCAAGCAATCTTTCTGCCCTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCCAGCAAACACTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTTGTTGCCCAGGCTGGAGTACACTGATGAGATCTCAGCTCACTGCAATCTCCACCTCCCAGGTTCAAGCGGTTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAATAGAGATG
CAGGCTGACTACCTCCCATGTAAGGTCATACTTCTTTCTATCCTCAATTGACCTTCCCCAAGTTTTAAGTAGTTGAACTCTTAGGCTAGGACAACAAACCAAGATTCGTTCAATGGTGACATGATAAAGAGTGAAATCTGTCTGGGGAAGAGAGATCATCTCTGTGTGACATTACTTGGACCCCAAAGAAACCGAGCCAGCAGACCTGGATTCTTTGCACCATGCCCTAACTATACGAGGGTCATATTCATTGAGACCCATCCCTGTGATAGTCTATCTGGGTTCAGGCTAGTGATACCTGGATAGCAAGATGTCTAGCTATAGTCATAGACTATAACTTATGAAACATTAAGATAAAAAATTCATCAAACCTTCATGGTTTTAAGTTACAAATACAAGGTAGTATAGGGCCATAGCTAAGCATACAGGCTCTGGTACTGGGTTTCCTGGGGTTCAAATCTTGGTTCTGCCATTTACCAGCTATCTGACCTTGTATAAGTAACCTTTTCAATACCTTAGTTTCTTCATGTGTAAAATGGGGCCGGTAACAGTCTCTCTCTCTCTCATAAGGTCGTTGTGAACCTTGTGTGTGTGTTAAATTACTTAATACATATAGTTCATAGCACAGAGTTAAGGGATCAAATATTAAGTTTATCATGAAGTATGAAAAAAAACTCTGCCTCCTAGGCGTATGTGGTAATTCTGTATTTCCCATTCAATTTTGCTTTGAGCTTAACAAGAATTGCCCCCTAAGTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGACTCTTGCTCTGTCTCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGTCTCCTGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGTGCGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTTCTGACCTTGTGATCCACCCGTCTCGGCCTCCCGAAGTGGTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTAAGTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGTCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTGGTCTAAGTTCTTCAGCTTATTTTTACTTATTTATTTGAAACAGGGTCTTGCTCTGTCACCCAGGCTGAAGTGAAGTGGCATGATCATGGCTCACTGCAGCCTCAAACTCCTGAGCTCAAGAGATCCTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTAAAGGCGAACACTACCATGCCCACCTAATTTTTCAATTTGTAGAGATGGAAGTCTCACTATGTTGCCCACGATGGTCTCAAACTCCTGGACTCAAGCAATTCTCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGCAGCTGGCCTAGTTTATTTATAAGCAATGAGGTTGTAATAAACTTTCATTTGATTTCTGACAGGATGATAAAATGTTTATCTCTAATATAATCAGACTTTTTCTATTACATAGTTTGAAAACAGTGACATACACGTTTTGCAGTTTTATATATTTGCCTGAATCTGCAATCATATCAGGAATTGTGCCTCGAACAGGTAAATTTCCTTGACCCTCTTTGGCCACAAATTCCTTTAAGGCACGAGCTAAAATCCAAAATGATGGAGTCTAAAAGAATAAGAAAAAATTAACATTAAGTGGCGTTTTACTTTGACCCAAAGTTTTAGCAGCAATGTTTTTACTTTTGTTGTTGTTACCTGTTTGGTGATATTTATCCAGCGATCATCATTAAATATATCTTCAATACTGCTTGGGATCTAACAAAGGAACATGAAACATTTACTTACACAGTATTAAGAATTCGCCCATCTTTATTTTCAGTGCTATTTCTTCAGATATGTTCTTTGAATTCTCAAATTGTAATCAAATACAAACTTCTGATTGGTTTATAATTTTATTTAGAATCAGTACCATATGAAGATTTGATGGGGAAAGAATGGAAGAAAGACCTCTCCGGCCCACTGTTGCTACCATTTAATACCTATTCTCTTATACCATAAATGGGGTAAAGAAGGGGCCCCAGTAAATTATTTTATATAGTTACATCTGAAGACAAAACAGATTATAGACTCGCAGTATATCATGATTTTCCATCTTGTCAAAAATCTGAAACCCTTGCACCCTAATTAGTGACCGTTGAGACAACCACTCTGAAAAAAACTAAAACCATAAAGTAATTTTATTGCTAGCAAGATCTTCATACGTTAATCAAGAGTATAAAGCTGAGCACAATGGCTCATATCTATAATCCCAGCATTCAGGAGGCCAAGGTGAGAGGGTCATTTGAGCCCAGGAGTTTGAGACCAACCTGAACAAAACAGGAAGACCCCGTCTATAGAAAACATAAAAGTAAATTAGCTGCGCGTGGTGGCACGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGGGGATCACTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGTCACTGCATTCTACCCTGGGCACCAATGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATACACACACACACACACACAAATCATAGGCTTGGATTCTACTGATGGGTGGAAAAAAGAAATGTCTCAGTGGGACCTCCTAACTGCTCTCTCTGCTTCCACTCCCAGTCCCCTCAATTGTGTTCTCCTCATGAAAGCCAGAATGGTCTTTTAGAATACAAAGCAGCTCAATCCACTTCCCTGACTGAAATGCTTAAATAGCCTGCAAGGCCTTTATGATCTGGCCCTTTCTGCCTCTCCAAACTCAAATCCTTCCTACCACTTTTCCCCCTTTTACACTTCACTCCAATCACACTGACTTGCTTACTGATGCTTGAACAAAAGTCAAGCTTCATCCCACTTCTGGGCCTTTGCACATGTGCTCCCTCCAACTGAAAAGCTCTTCCACCAGACCTCTGCGTGTCACTTCACTCAGGCTTCTGCTTAAATGTCTTTTGGAAAGTCTCCCTGGCTCCCTATGTACAATTGTCTCTCAACCCCGGATTCCCTTGTCCCCAGCATGCTCTCTGACCCTTTGTTCTGCTGTAATTTTGTTCACAGCACCTGGTGCATTTTTATCTGTTTATTTAGCTTACTGCCCCCCAACTATTAGAATCTTTTCTTTTCAACTGTGGTTTTATATTCAGTGAAATACAGAGATTTCAAATGTCCAATTCAATGCATTTTGATAACTATATATACATATTTTTAACCATAACCCCAATTAAAACAGAAAATGTTCATCACCCCAGAAAAGTGATTCACAAAGCACATTTATTTTTTGGACACAGGGTCTCATATCATTGCCCAGGCTGCAGTGCAGTGGCACAATCATGGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGCGATCCTCCCACTACCTTAGGCTCCAGAGTAGCTGAGACTACAGGTGCATGCCACCACACCCATCTAATTTTTAAATTTTTTGTAGAGACAAGATCTCCCTACGTTGTCCAGGCTGGTCTTGAACTGGGCTCAAGCAATCTTTCTGCCCTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCCAGCAAACACTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTTGTTGCCCAGGCTGGAGTACACTGATGAGATCTCAGCTCACTGCAATCTCCACCTCCCAGGTTCAAGCGGTTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAATAGAGATG
Task1_train_22798
A variant has been detected on Chromosome 16 in NAE1 (NEDD8 activating enzyme E1 subunit 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
ATTTAGCTTTAATACAGGATGCAATGTATAAACACAGACAGTACACCTCTAAGTTCTTAAACTACCAAACATATGAAGATTTACAAGATTACAAAAATTAGTTAACTTTTTTCTCAGAGAAATAATACACGTTTTTAAAGTCAAAGCTTTTCAAGCAATCAAAACACAGGGGCATCATTAGATGCTCACATCCAACTATATTCTCTAATTGTTTACCTTGCCGATACTGCTTCTTTGAAGGAAGAAACTAAAGTGAACAGAATAAAGGAAAAAAAAGTAAAGCTTACTGACTATAAAGGAAAAGTTGTTTGTAATAGCATGCATATTTCATTCACAGTATAAAACAAACTATATTGTGATTACAGACTGTAATGGCCTTCCTGGAGGAAGAAAATCAGATGGAACTTATAAAGAAAGATAGGCTAATAAATCAATGTTTCTTTCCCAAATTGTGTACCACAGCATGTGAATTTCACAAGATCCTCTGAGAGAAAAGGGTTCCTTGGCTAAAAACGTTTGGGAAACACCGGCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTAATACAGTGAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGTAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACGGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAGTTTGGGAAACACCATATACTATATTTCCCTCTTGGAAATTCATAATACACATAATACATGTGATACTAAAATCTTATGGTAAAGAAATTTTTACTTCATTTGATCCATTTCCCAAACTAATTTCACTATGGAACCCATTGGCCCATTTAACAGCTCTTATCGTTCCCTAGAACCGGTGTTCCACAGACCACTCTCGGTGTATTGAACCATTTGTTTTTGCACGTAACTGTAACAGATTTATTCAGGCTTCCTCCCACACATACCCTTGACATGTCTCAAGGCCCAGATATGAGGCTGCTGATCAGAGTCAGGATGCCACTTTTCGGTATAAGCTCACTGGCTCCATAAGAAGAAACCTTATTTTTATCACTTTCTACTCTAACCCACCAAGTAAGCAAAGATAACAAGACTTCTTGGTATATATCAATAAAAAAGCTGTGCTGTGCCTGGCAGAAACTGGCACTACGATCCAAAGAAAAGGCATCAAAACTAAATATGAACTAATTGCTGGTTTCCCTTATATTTACTCACTGTTGTTGTTACTGACAAACACAATGAGAGATACCAGACTTCAAGTCCCTGAAAAGGTGAGCTTTAAATCCAAATTTGGGCATGTTCTGAAAGTCTAAATATAATCTTTAAAGAATAATATACAGGCCATCTTTAAAACAGCATTTTTGTTGACACTGTAAAGAGAGATACCCCTAGACTAAGCCTAAAAGACATCACAAACAACAGGCATTATTGTTAATTATATGCTAACACCTACGGATCAATACAAGAGCTTAGGAAGTGCCCATATTCCATGAATAAAGGAATAACGACTACTCCTTTGTATTAATAACAATAAAGACAGTAATGATGGGTAACATTTATTAATGCCCTATTTGCCAGATGCTGTACTAGCACTTTACCTATATTATCTCACTTCCTCACCATAATCCCAAACATAAGGATGATTTCCACTGAGAGTCGAGTCACCCTGACTGAGGAGGTGAAGCTAAGACTCAGGCCTTGCCTTCCTTAACGTGAATATATTTGAAGAGAATAGAACATACTTGTTTCCAGCATCTTCTCCGCTGACCTGATTTCCATCAATAATTGTAAACGAACCAATACCTGAGAGCCAAAACAGAGTCAGTCAGGAATACATAGTTCTAGGTCATAAACTTAAAGAAGTATATTTAGAACACAACCACAAACCTACGTTACCTGGTAGTACCAAGTTTTTAAGAATTTCAGTTCCTGTGGCTGTTGCATTTATTAGGCAAACATGAGCAGATTCTAAAGCCTCTTGCCCATGATCACCCCACAACCTACAAAACAGACACAAATTTGATGTTTTTAAAACTTTCATGAAAATACAGCTTTCTTATTTGAATGGTGATCTTTAAACTTTCCTTGCATAGACTGATATGATAACCACAGAATACAGGTAAGACGGGAACAGATATTAGTATAGTGATTATACAGTAATCTAGAACTCAGGTTGATGCCTTGAATGGTTAGGGGAAAAGAGGGAGAGGGTCAAATTAGAAACAGAAACTTGGTCTTCCAGCCCCTTATCAGCCTGGGCACAAGAGCGACACTCTGTCTCAAAACAAACAAACAAACATTTAAAAAGCGTCTTTGGATTTAAACCCTCATCTGTTTTCTATTTCATTTATTCTTTGTTTTGTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGTAGTGGCATGATCTCAGCTCACTTGGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCCTATTTCATTTATTCTTAAATTATGTTAGATGTGCCAGGTGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCGTGACTAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCACCTACTCGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGAAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAATTATATTAGATGCATTTAAGTTAAGTTAGATGCATTTAAGATCTCGACATAGGGCTTATTACTGTGACTTCTGCAAAAGCTTTACCAAGAAAACTGAATTATCATCTGAAAAGCCTCACATCAACTTCTACAGGAGTGCTTTAAAGTATATTACCCAATGAACATTCTAATAGAGTGATTAATGTGCCTTCCCTGTTACCTGATTTAAAGCAGATTACCCCTTATTATGTAGTCAGTATGTCCTCCAGAGCATGTCAAGCAACTGCCTTGTTTTTTGTTTTTGTTTTTGATACAGGGTCTTACTATGTTATCCAGACTGGTCTTGAACTCCTGGGTTCAAGCATTTCTCTCGCCTCAGCCTCTAGAGTTGCTGGGACTACAGGCACAAGCCACTGTACCTGGCTTCATTTGTTTTTGTTTGCTGAGCATCCATCTTTCCACTCCACTGTATGCTCCATAAGGGCCCAGACAGCTGTCAAATGTATGGAGGAATCGCCTAGAAGAACCAGATGGACCGTAAACGCCTGTTTTCTCCATCAAAGTATGGCACGTAGAAGACACCTGACATATATGGTTGATGGATGCTTAGATAGTTGGAGAGTAAATTTAAGAATACTGGTGCATCTTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCAGGCACAGTGGCACGCACCTATAATCCCAGCTACTAGGGAGGCTGAGGCATGAGAATCGCATGAACGCAGGAGGCGGAGATTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGCGCAACACAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATACTGGTGCATCTCAAGCAGGGTGAGATAGTGTGTGTGCCTGTAGTCCCAGCTGCTTGGGAGACTGAGGCAGGAGGATCACTCCAGCCCAGGAGATCAAGGCTGTGGTGTGCCAATAATCATACCTGCGAACAGCCACTGCACTCCAGCCTGGGTAACATACTGAGACCCACCTCAAAAATAAAACAAAAAGAATACTGAGGCCAGGCACTGTGGCTCATGCCTG
ATTTAGCTTTAATACAGGATGCAATGTATAAACACAGACAGTACACCTCTAAGTTCTTAAACTACCAAACATATGAAGATTTACAAGATTACAAAAATTAGTTAACTTTTTTCTCAGAGAAATAATACACGTTTTTAAAGTCAAAGCTTTTCAAGCAATCAAAACACAGGGGCATCATTAGATGCTCACATCCAACTATATTCTCTAATTGTTTACCTTGCCGATACTGCTTCTTTGAAGGAAGAAACTAAAGTGAACAGAATAAAGGAAAAAAAAGTAAAGCTTACTGACTATAAAGGAAAAGTTGTTTGTAATAGCATGCATATTTCATTCACAGTATAAAACAAACTATATTGTGATTACAGACTGTAATGGCCTTCCTGGAGGAAGAAAATCAGATGGAACTTATAAAGAAAGATAGGCTAATAAATCAATGTTTCTTTCCCAAATTGTGTACCACAGCATGTGAATTTCACAAGATCCTCTGAGAGAAAAGGGTTCCTTGGCTAAAAACGTTTGGGAAACACCGGCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTAATACAGTGAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGTAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACGGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAGTTTGGGAAACACCATATACTATATTTCCCTCTTGGAAATTCATAATACACATAATACATGTGATACTAAAATCTTATGGTAAAGAAATTTTTACTTCATTTGATCCATTTCCCAAACTAATTTCACTATGGAACCCATTGGCCCATTTAACAGCTCTTATCGTTCCCTAGAACCGGTGTTCCACAGACCACTCTCGGTGTATTGAACCATTTGTTTTTGCACGTAACTGTAACAGATTTATTCAGGCTTCCTCCCACACATACCCTTGACATGTCTCAAGGCCCAGATATGAGGCTGCTGATCAGAGTCAGGATGCCACTTTTCGGTATAAGCTCACTGGCTCCATAAGAAGAAACCTTATTTTTATCACTTTCTACTCTAACCCACCAAGTAAGCAAAGATAACAAGACTTCTTGGTATATATCAATAAAAAAGCTGTGCTGTGCCTGGCAGAAACTGGCACTACGATCCAAAGAAAAGGCATCAAAACTAAATATGAACTAATTGCTGGTTTCCCTTATATTTACTCACTGTTGTTGTTACTGACAAACACAATGAGAGATACCAGACTTCAAGTCCCTGAAAAGGTGAGCTTTAAATCCAAATTTGGGCATGTTCTGAAAGTCTAAATATAATCTTTAAAGAATAATATACAGGCCATCTTTAAAACAGCATTTTTGTTGACACTGTAAAGAGAGATACCCCTAGACTAAGCCTAAAAGACATCACAAACAACAGGCATTATTGTTAATTATATGCTAACACCTACGGATCAATACAAGAGCTTAGGAAGTGCCCATATTCCATGAATAAAGGAATAACGACTACTCCTTTGTATTAATAACAATAAAGACAGTAATGATGGGTAACATTTATTAATGCCCTATTTGCCAGATGCTGTACTAGCACTTTACCTATATTATCTCACTTCCTCACCATAATCCCAAACATAAGGATGATTTCCACTGAGAGTCGAGTCACCCTGACTGAGGAGGTGAAGCTAAGACTCAGGCCTTGCCTTCCTTAACGTGAATATATTTGAAGAGAATAGAACATACTTGTTTCCAGCATCTTCTCCGCTGACCTGATTTCCATCAATAATTGTAAACGAACCAATACCTGAGAGCCAAAACAGAGTCAGTCAGGAATACATAGTTCTAGGTCATAAACTTAAAGAAGTATATTTAGAACACAACCACAAACCTACGTTACCTGGTAGTACGAAGTTTTTAAGAATTTCAGTTCCTGTGGCTGTTGCATTTATTAGGCAAACATGAGCAGATTCTAAAGCCTCTTGCCCATGATCACCCCACAACCTACAAAACAGACACAAATTTGATGTTTTTAAAACTTTCATGAAAATACAGCTTTCTTATTTGAATGGTGATCTTTAAACTTTCCTTGCATAGACTGATATGATAACCACAGAATACAGGTAAGACGGGAACAGATATTAGTATAGTGATTATACAGTAATCTAGAACTCAGGTTGATGCCTTGAATGGTTAGGGGAAAAGAGGGAGAGGGTCAAATTAGAAACAGAAACTTGGTCTTCCAGCCCCTTATCAGCCTGGGCACAAGAGCGACACTCTGTCTCAAAACAAACAAACAAACATTTAAAAAGCGTCTTTGGATTTAAACCCTCATCTGTTTTCTATTTCATTTATTCTTTGTTTTGTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGTAGTGGCATGATCTCAGCTCACTTGGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCCTATTTCATTTATTCTTAAATTATGTTAGATGTGCCAGGTGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCGTGACTAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCACCTACTCGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGAAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAATTATATTAGATGCATTTAAGTTAAGTTAGATGCATTTAAGATCTCGACATAGGGCTTATTACTGTGACTTCTGCAAAAGCTTTACCAAGAAAACTGAATTATCATCTGAAAAGCCTCACATCAACTTCTACAGGAGTGCTTTAAAGTATATTACCCAATGAACATTCTAATAGAGTGATTAATGTGCCTTCCCTGTTACCTGATTTAAAGCAGATTACCCCTTATTATGTAGTCAGTATGTCCTCCAGAGCATGTCAAGCAACTGCCTTGTTTTTTGTTTTTGTTTTTGATACAGGGTCTTACTATGTTATCCAGACTGGTCTTGAACTCCTGGGTTCAAGCATTTCTCTCGCCTCAGCCTCTAGAGTTGCTGGGACTACAGGCACAAGCCACTGTACCTGGCTTCATTTGTTTTTGTTTGCTGAGCATCCATCTTTCCACTCCACTGTATGCTCCATAAGGGCCCAGACAGCTGTCAAATGTATGGAGGAATCGCCTAGAAGAACCAGATGGACCGTAAACGCCTGTTTTCTCCATCAAAGTATGGCACGTAGAAGACACCTGACATATATGGTTGATGGATGCTTAGATAGTTGGAGAGTAAATTTAAGAATACTGGTGCATCTTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCAGGCACAGTGGCACGCACCTATAATCCCAGCTACTAGGGAGGCTGAGGCATGAGAATCGCATGAACGCAGGAGGCGGAGATTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGCGCAACACAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATACTGGTGCATCTCAAGCAGGGTGAGATAGTGTGTGTGCCTGTAGTCCCAGCTGCTTGGGAGACTGAGGCAGGAGGATCACTCCAGCCCAGGAGATCAAGGCTGTGGTGTGCCAATAATCATACCTGCGAACAGCCACTGCACTCCAGCCTGGGTAACATACTGAGACCCACCTCAAAAATAAAACAAAAAGAATACTGAGGCCAGGCACTGTGGCTCATGCCTG
Task1_train_22799
The following genetic variant occurs in HSF4 (heat shock transcription factor 4) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Cataract 5 multiple types
AGGCCTTTTCTGCACGGCTCTAACCCAAGTTGCGAATGTGAGCTGGAAGGCATGCTGCCACCTTATCTGTCCGCCTGCCTCGACCACATTCACAACCTACGGCTGGAATTTGAGCCATCGAGGAAGCCGAGCCGCCGGGCGGCCATCGAGCTGCTGATGGTTCTGGCGGGCCGTGCCCCGGGGCTGCGAGGCCTGCGCCTGGAGTGCCGCGGAGAAAAACCGCTCTTCGACGCGGGCCGCGACGTCCTGGAGGCTGTGCACGCTGTATGCGGGGCGGCCAGCCAGCTACGCCACCTCGACCTGCGGCGCTTGTCCTTCACACTGGACGACGCGCTGGTGCTGCAGGCGGCGCGCAGCTGTCCCGAGCTCCACAGCCTTTTTCTGGACAACAGTACCCTAGTGGGCAGCGTGGGTCCCGGCTCAGTGCTCGAGCTACTGGAGGCCTGCCCGCGCCTGCGCGCTCTCGGCCTGCACCTAGCCAGTTTGTCGCACGCCATCCTCGAAGCACTGGCGGCGCCAGACCGAGCGCCTTTCGCGCTCTTGGCTCTGCGGTGCGCGTGCCCCGAAGATGCACGCGCGTCCCCGCTGCCCAACGAAGCCTGGGTCGCGTTGCGCCGCCGCCACCCTGGGCTGGCAGTGGAGCTGGAGCTGGAGCCCGCGCTGCCCGCTGAGAGCGTGACGCGCGTCCTGCAGCCAGCCGTCCCCGTGGCTGCGCTGCGCCTCAACCTCTCAGGCGACACCGTAGGCCCAGTGCGCTTCGCAGCACACCACTACGCCGCAACCCTGTGCGCGCTCGAGGTGCGCGCAGCCGCTTCGGCCGAGCTGAACGCCGCGCTGGAGGAGCTGGCGGCGCGCTGCGCGGCCCTGCGCGAGGTGCATTGTTTCTGCGTGGTGAGCCACTCGGTGCTGGACGCCTTCCGCGCGCACTGCCCGCGCCTGCGCACCTATACCCTCAAGCTCACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGT
AGGCCTTTTCTGCACGGCTCTAACCCAAGTTGCGAATGTGAGCTGGAAGGCATGCTGCCACCTTATCTGTCCGCCTGCCTCGACCACATTCACAACCTACGGCTGGAATTTGAGCCATCGAGGAAGCCGAGCCGCCGGGCGGCCATCGAGCTGCTGATGGTTCTGGCGGGCCGTGCCCCGGGGCTGCGAGGCCTGCGCCTGGAGTGCCGCGGAGAAAAACCGCTCTTCGACGCGGGCCGCGACGTCCTGGAGGCTGTGCACGCTGTATGCGGGGCGGCCAGCCAGCTACGCCACCTCGACCTGCGGCGCTTGTCCTTCACACTGGACGACGCGCTGGTGCTGCAGGCGGCGCGCAGCTGTCCCGAGCTCCACAGCCTTTTTCTGGACAACAGTACCCTAGTGGGCAGCGTGGGTCCCGGCTCAGTGCTCGAGCTACTGGAGGCCTGCCCGCGCCTGCGCGCTCTCGGCCTGCACCTAGCCAGTTTGTCGCACGCCATCCTCGAAGCACTGGCGGCGCCAGACCGAGCGCCTTTCGCGCTCTTGGCTCTGCGGTGCGCGTGCCCCGAAGATGCACGCGCGTCCCCGCTGCCCAACGAAGCCTGGGTCGCGTTGCGCCGCCGCCACCCTGGGCTGGCAGTGGAGCTGGAGCTGGAGCCCGCGCTGCCCGCTGAGAGCGTGACGCGCGTCCTGCAGCCAGCCGTCCCCGTGGCTGCGCTGCGCCTCAACCTCTCAGGCGACACCGTAGGCCCAGTGCGCTTCGCAGCACACCACTACGCCGCAACCCTGTGCGCGCTCGAGGTGCGCGCAGCCGCTTCGGCCGAGCTGAACGCCGCGCTGGAGGAGCTGGCGGCGCGCTGCGCGGCCCTGCGCGAGGTGCATTGTTTCTGCGTGGTGAGCCACTCGGTGCTGGACGCCTTCCGCGCGCACTGCCCGCGCCTGCGCACCTATACCCTCAAGCTCACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGACTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGT