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_12400
Here’s a variant in EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Weaver syndrome
AGTGTAATCTTATAAGTTACTTAACCTCTCTAAATCTATCCCCTCAAATAGAAAATGGATCTGACAGGTGGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATAGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGAAGCTTGCAGTAAGCTGAGATGGGGCCACTGTACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAGAAAATGGATCTGATAATAACATCCATCTCATGAAGCCATTATGAGGATTAAGTGAGCTGGTGCATAAGAAGTGATTAGTACACAACTTGTACACGGTGAATATCAATGTTATATATTATAATGATGCCCAGTGAAGCACACAAAAAATTACGTTCTTTGCTAGCCAAAGGAAACAAAGATACTCAAGTGAAGATAATGTTGCAAGTATTATGCTTTTTTTTTTCTTTTTTAAGGCAAGGTCTCACTCTGTCACCCAGCCAGACTGTGCAGTGGCACAATCACAGCTCAATGCAGCCTACACCTCCTGGGCTCAAGCAATCACCCTGTCTCATTTTTTTACTTTTTAGTAGAGATGGGGTCTCACTATGTTGCCCAGGTTGGTCTTGAACTCCTGGGCTCAAGCAATCTGCCCACCTTAGCCTCCCAAGTGCTAGGATTACAGAGTTAGCCACCCTACCTGGCCATAATATGTTAATTTTGATTATACTGCTATCAATGTGATATTTAACAAAGAAAGAAAAAGAGAAAGAAGAAACTAAGCCCTATTTCTACTCTTTCTACTGTTTTTGAAAGAAAGCTGTAATGGCTACACAGAATCCTAATAATCAGGCATACCATCTCGGTGATCCTCCAGATCTTTCTGCTTTTCTTCTCTTTCTTCAGGATCGTCTCCATCATCATCATCGTCATCATCATTATATTGACCAAGGGCATTCACCAACTCCACAAAAATTTCATCATTTATAAACCCACATTCTGAAACGCATCAAATGTCAGAAACACACAGGAGAAGCAATAATGTCAAAAGTTTATGTATCCTTTTTCTACTTGGACAAAACAGGCATAGCCTAGTAACTGGCACTAAAACATTATTATTGAAATGAGGGGAGGAAAAGATAAGATCATTTTCAGGACTGGTGTTAGGCAAAGGAAGCAAACTTATCTTTAATACCTGCTACTTTCTGTAGAATGGCCCCTCCCCAAAACTTTCTAGTAGAAAACTGAATCTTCTAGGAACTGATTGTGGCTTTGGCCTCCTCCCAAACAATGGATCTGTCCTTTAACTGATCATTTCAGACCCTGCTTTCTGCTGATAATGACAATGGATGATGATATTACAAATATTATCCTTTCAGACACTTTAACAGGGCCTCCTGGACACAAAAAACTGAAACCATGACTCTAAGGATTGAATTTCAGGTACTGTAGTCCCTAGAGGAGCGGTATTTTTTAGTAGTAGGGGCTGTTGGAGCCCCTATATGCCACAGAAGCAGAGCCCCAATCCTAATTAATTTTACTACTAAAGAATCTTAAAATCTACATACACTCAAGTTCTATTTAATTTACATGTTATTGCCATTATGTTATAACCAACTATGCATAATTATCAGGTGGCAAACATGATCCTCCTAACTAATTTTCCCAAAAATAGTTAGGGAAAATACTGAAAATCTTAGGCCTGGGCCCAGGTTCAGTCCCTTATAGTTCAGTGCAAAACTTAATTTTAATATTAAAATTTTTCTCATGCCCTATATGCTTCATAAACAAAAGTGTCTCTCAATTCTTTAGCCCCTTTTTCCAAGAGAAGAAGCATATGGCTCACCTCTATCCCCGTGTACTTTCCCATCATAATTTTTTATTAGTTCTTCAATGAAAGTACCATCCTGATCTAAAACTTCATCTCCCATATAAGGAATGTTATGTAAAACAGTTTCATCTTCCACCTAAAAGAAAAAAATATATTTAAAAAGCAGGTTTACTCTAAGTATCAAATGTGAAATAACTAAAATACAACCTTTTTTTCATGTGTACATGTCTTTACCCAGTTCTCCAGATTTAAAATACTAGTCAGAGAGCAAACTCTAAAATTTATCAAAAAATAAAAGACCCCTCTCACCAATAAGCATATCTGAGAAAACTGTTGACAGAAAAAAAATTTAATTCTAGAAAAAATAATGCACTTAGTCTGTCATCAATCATTAAAACTTACCACCATTATTGTACATACCTCTAAGAAAGAAAAAGATGCTCTAGATTATGAGAAGACATCGTCTGTTTTTCTGTTTTTGTTTTTTAATTGAGACGAGTGTCTCACTATGCTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAAGTGATCCACCCGCCTTGGCTCCCAAAGTGCTGGGATAACAGGTGTCTGACACCATGAGCCACCATGCCCAGCCATCATCAGTTTTAACGCGCACTTTAGATGTTAATAGAGGATGATGAAATATGGTGTATCAAGATCAACTATAAAGACCCATACCAAAAAACTACCCTAAGACTCCCAAACTCCACTTGATGATCCAGTTATTAAAACAGCCATTAACTTGTAATAGTTTAAGGTAAAATGAAAAAAAAATGTAAGACATCCAATATAATAAAATTCTAGGGATACAGAGTATTGATAGTCCATTAAAGTTTATGCCAAAAGGATATGTACTTATATGTAAAATAAGAACATTCTACAAAAACATAAAATATTTCAATATTTAGATGAATGAGATGAATATCAAAGTTGACAGTGCTAGTAAAGATGATAGATGAGTTTTTATCAAGCTTTGGAAGACAACAGAGAAGAAAGAAGAATAGCCAATCAAACAAAAGTTAAGACAGAATAGAATAGTTAAGCATACAAGGTAAAGAAAGTTGACATTCATAGGAGGAAGAGCATTTTCAATGAAGAATAAAAATGACAGCAGTTATAGATAAAGACTGGACAGTTCTGAAGTACATGTTTAAAGAGACTAATTCCAAGTGAAGACAAGTCTAAGTCTTAAGAGGCCTTTGAAAAGAGTATTGGTTGAAAACAGAATTTTAGAAAGATAATTATAATAAGCAGAATGGACTGGCTATGCCTGACTGGGAGGACACAGAAGCTCTTTAAAGGGTGAGATGGCGTAGGCTCGGCCCAGCACTATGATCATGGCCCACAGGTAAGAACACGCTGGGAAAGGCCACACACAGGACTAGTAGCAGCCAGGGAATGTGGAAAAAATCTCAAATAATCCCTAGGTAACAAATTTAGGACAACTGGAGAGTTCATAAAGATAACAAGTACCGTAGACAGACAAGGAAAAGAAAAAGTGGGATAAAAGGAGCATATAATTAAAATGCAGGTTTTAATGTATTCATATATTCAAATTCAAGCTTATGTACACACTAGAGGCCTGTTTTCATCTCATTTCACTTGCACTAATCTCATTTAAACTAGGGGTTGATTTCTTTCTATCTAAGCCAAAATCAAGTGACACTTAGATATTTTGTCTTTTCAATCATATCCACATCATCCTGCTCTCCAAAACGTATCTTAGTTACAATAAAGATTGTGTGCCTAATCTGCTTTGGTCAGCAAAATCAGACAGGGTCTGGCTCTGTCACCCAGGCTAGACCAGCAAAATCCATGGGTGATTCATAAATTAATGACAAATTTAAATAATATATTCTTCCAGAATTTCAGTCTGTGAAAACATGAAACTTCCCTCAAGGTCATGCAATGTAATTCTCAAACTACACTCAAATTTATACAACTACAGAAGAGTAACTGAAGTTGAGACTCTACTGTACAAAGTATAAAAGTTACTAAAAACTTCCCCAAAGCAGGTTCACCAAGGACTTCTATCAACATTTTATTAGCCTTCCCACTTTATATATCAATTAAGTAATACAACTATATATTTTTTATTTAGCAATACAAGTCAAGAACACATGCTTCAGTT
AGTGTAATCTTATAAGTTACTTAACCTCTCTAAATCTATCCCCTCAAATAGAAAATGGATCTGACAGGTGGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATAGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGAAGCTTGCAGTAAGCTGAGATGGGGCCACTGTACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAGAAAATGGATCTGATAATAACATCCATCTCATGAAGCCATTATGAGGATTAAGTGAGCTGGTGCATAAGAAGTGATTAGTACACAACTTGTACACGGTGAATATCAATGTTATATATTATAATGATGCCCAGTGAAGCACACAAAAAATTACGTTCTTTGCTAGCCAAAGGAAACAAAGATACTCAAGTGAAGATAATGTTGCAAGTATTATGCTTTTTTTTTTCTTTTTTAAGGCAAGGTCTCACTCTGTCACCCAGCCAGACTGTGCAGTGGCACAATCACAGCTCAATGCAGCCTACACCTCCTGGGCTCAAGCAATCACCCTGTCTCATTTTTTTACTTTTTAGTAGAGATGGGGTCTCACTATGTTGCCCAGGTTGGTCTTGAACTCCTGGGCTCAAGCAATCTGCCCACCTTAGCCTCCCAAGTGCTAGGATTACAGAGTTAGCCACCCTACCTGGCCATAATATGTTAATTTTGATTATACTGCTATCAATGTGATATTTAACAAAGAAAGAAAAAGAGAAAGAAGAAACTAAGCCCTATTTCTACTCTTTCTACTGTTTTTGAAAGAAAGCTGTAATGGCTACACAGAATCCTAATAATCAGGCATACCATCTCGGTGATCCTCCAGATCTTTCTGCTTTTCTTCTCTTTCTTCAGGATCGTCTCCATCATCATCATCGTCATCATCATTATATTGACCAAGGGCATTCACCAACTCCACAAAAATTTCATCATTTATAAACCCACATTCTGAAACGCATCAAATGTCAGAAACACACAGGAGAAGCAATAATGTCAAAAGTTTATGTATCCTTTTTCTACTTGGACAAAACAGGCATAGCCTAGTAACTGGCACTAAAACATTATTATTGAAATGAGGGGAGGAAAAGATAAGATCATTTTCAGGACTGGTGTTAGGCAAAGGAAGCAAACTTATCTTTAATACCTGCTACTTTCTGTAGAATGGCCCCTCCCCAAAACTTTCTAGTAGAAAACTGAATCTTCTAGGAACTGATTGTGGCTTTGGCCTCCTCCCAAACAATGGATCTGTCCTTTAACTGATCATTTCAGACCCTGCTTTCTGCTGATAATGACAATGGATGATGATATTACAAATATTATCCTTTCAGACACTTTAACAGGGCCTCCTGGACACAAAAAACTGAAACCATGACTCTAAGGATTGAATTTCAGGTACTGTAGTCCCTAGAGGAGCGGTATTTTTTAGTAGTAGGGGCTGTTGGAGCCCCTATATGCCACAGAAGCAGAGCCCCAATCCTAATTAATTTTACTACTAAAGAATCTTAAAATCTACATACACTCAAGTTCTATTTAATTTACATGTTATTGCCATTATGTTATAACCAACTATGCATAATTATCAGGTGGCAAACATGATCCTCCTAACTAATTTTCCCAAAAATAGTTAGGGAAAATACTGAAAATCTTAGGCCTGGGCCCAGGTTCAGTCCCTTATAGTTCAGTGCAAAACTTAATTTTAATATTAAAATTTTTCTCATGCCCTATATGCTTCATAAACAAAAGTGTCTCTCAATTCTTTAGCCCCTTTTTCCAAGAGAAGAAGCATATGGCTCACCTCTATCCCCGTGTACTTTCCCATCATAATTTTTTATTAGTTCTTCAATGAAAGTACCATCCTGATCTAAAACTTCATCTCCCATATAAGAAATGTTATGTAAAACAGTTTCATCTTCCACCTAAAAGAAAAAAATATATTTAAAAAGCAGGTTTACTCTAAGTATCAAATGTGAAATAACTAAAATACAACCTTTTTTTCATGTGTACATGTCTTTACCCAGTTCTCCAGATTTAAAATACTAGTCAGAGAGCAAACTCTAAAATTTATCAAAAAATAAAAGACCCCTCTCACCAATAAGCATATCTGAGAAAACTGTTGACAGAAAAAAAATTTAATTCTAGAAAAAATAATGCACTTAGTCTGTCATCAATCATTAAAACTTACCACCATTATTGTACATACCTCTAAGAAAGAAAAAGATGCTCTAGATTATGAGAAGACATCGTCTGTTTTTCTGTTTTTGTTTTTTAATTGAGACGAGTGTCTCACTATGCTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAAGTGATCCACCCGCCTTGGCTCCCAAAGTGCTGGGATAACAGGTGTCTGACACCATGAGCCACCATGCCCAGCCATCATCAGTTTTAACGCGCACTTTAGATGTTAATAGAGGATGATGAAATATGGTGTATCAAGATCAACTATAAAGACCCATACCAAAAAACTACCCTAAGACTCCCAAACTCCACTTGATGATCCAGTTATTAAAACAGCCATTAACTTGTAATAGTTTAAGGTAAAATGAAAAAAAAATGTAAGACATCCAATATAATAAAATTCTAGGGATACAGAGTATTGATAGTCCATTAAAGTTTATGCCAAAAGGATATGTACTTATATGTAAAATAAGAACATTCTACAAAAACATAAAATATTTCAATATTTAGATGAATGAGATGAATATCAAAGTTGACAGTGCTAGTAAAGATGATAGATGAGTTTTTATCAAGCTTTGGAAGACAACAGAGAAGAAAGAAGAATAGCCAATCAAACAAAAGTTAAGACAGAATAGAATAGTTAAGCATACAAGGTAAAGAAAGTTGACATTCATAGGAGGAAGAGCATTTTCAATGAAGAATAAAAATGACAGCAGTTATAGATAAAGACTGGACAGTTCTGAAGTACATGTTTAAAGAGACTAATTCCAAGTGAAGACAAGTCTAAGTCTTAAGAGGCCTTTGAAAAGAGTATTGGTTGAAAACAGAATTTTAGAAAGATAATTATAATAAGCAGAATGGACTGGCTATGCCTGACTGGGAGGACACAGAAGCTCTTTAAAGGGTGAGATGGCGTAGGCTCGGCCCAGCACTATGATCATGGCCCACAGGTAAGAACACGCTGGGAAAGGCCACACACAGGACTAGTAGCAGCCAGGGAATGTGGAAAAAATCTCAAATAATCCCTAGGTAACAAATTTAGGACAACTGGAGAGTTCATAAAGATAACAAGTACCGTAGACAGACAAGGAAAAGAAAAAGTGGGATAAAAGGAGCATATAATTAAAATGCAGGTTTTAATGTATTCATATATTCAAATTCAAGCTTATGTACACACTAGAGGCCTGTTTTCATCTCATTTCACTTGCACTAATCTCATTTAAACTAGGGGTTGATTTCTTTCTATCTAAGCCAAAATCAAGTGACACTTAGATATTTTGTCTTTTCAATCATATCCACATCATCCTGCTCTCCAAAACGTATCTTAGTTACAATAAAGATTGTGTGCCTAATCTGCTTTGGTCAGCAAAATCAGACAGGGTCTGGCTCTGTCACCCAGGCTAGACCAGCAAAATCCATGGGTGATTCATAAATTAATGACAAATTTAAATAATATATTCTTCCAGAATTTCAGTCTGTGAAAACATGAAACTTCCCTCAAGGTCATGCAATGTAATTCTCAAACTACACTCAAATTTATACAACTACAGAAGAGTAACTGAAGTTGAGACTCTACTGTACAAAGTATAAAAGTTACTAAAAACTTCCCCAAAGCAGGTTCACCAAGGACTTCTATCAACATTTTATTAGCCTTCCCACTTTATATATCAATTAAGTAATACAACTATATATTTTTTATTTAGCAATACAAGTCAAGAACACATGCTTCAGTT
Task1_train_12401
Located on Chromosome 7, this mutation impacts KCNH2 (potassium voltage-gated channel subfamily H member 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; not provided
GGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTG
GGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGCTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTG
Task1_train_12402
A mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; not provided
AACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGA
AACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGATGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGA
Task1_train_12403
The gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Long QT syndrome
TGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCG
TGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCATATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCG
Task1_train_12404
A genetic alteration is present in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Cardiovascular phenotype
TGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCG
TGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCATATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCG
Task1_train_12405
Here is a genetic alteration in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; not provided
GGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGA
GGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCGCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGA
Task1_train_12406
The gene KCNH2 (potassium voltage-gated channel subfamily H member 2), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
ACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGA
ACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAGAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGA
Task1_train_12407
A mutation on Chromosome 7 affecting KCNH2 (potassium voltage-gated channel subfamily H member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; not provided
GGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGC
GGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATAGCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGC
Task1_train_12408
Given this variant in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; not provided
TTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGG
TTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCACGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGG
Task1_train_12409
Assess the clinical impact of this variant on gene KCNH2 (potassium voltage-gated channel subfamily H member 2), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Long QT syndrome 2
TTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGG
TTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCAGGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGG
Task1_train_12410
This sequence change occurs on Chromosome 7, altering KCNH2 (potassium voltage-gated channel subfamily H member 2). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Long QT syndrome
TTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGC
TTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGAAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGC
Task1_train_12411
A mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; not provided
TTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCAC
TTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGACAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCAC
Task1_train_12412
A sequence alteration has been identified in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it disease-inducing or harmless?
Pathogenic; Long QT syndrome 2
TTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCAC
TTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGATAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCAC
Task1_train_12413
Located on Chromosome 7, this mutation impacts KCNH2 (potassium voltage-gated channel subfamily H member 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; not provided
TTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTT
TTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCCTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTT
Task1_train_12414
This sequence change occurs on Chromosome 7, altering KCNH2 (potassium voltage-gated channel subfamily H member 2). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Long QT syndrome
TGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATAC
TGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTTTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATAC
Task1_train_12415
This is a variant in KCNH2 (potassium voltage-gated channel subfamily H member 2), located on Chromosome 7. Is this mutation a likely cause of disease or not?
Pathogenic; KCNH2-related disorder
ACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTG
ACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGCTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTG
Task1_train_12416
Gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Long QT syndrome 2
ACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTG
ACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGCTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTG
Task1_train_12417
An alteration has been detected in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Cardiovascular phenotype
ACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTG
ACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGCTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTG
Task1_train_12418
This mutation occurs in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Long QT syndrome
ACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTG
ACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGCTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTG
Task1_train_12419
An alteration has been detected in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Short QT syndrome type 1
CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACT
CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGCTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACT
Task1_train_12420
The gene KCNH2 (potassium voltage-gated channel subfamily H member 2), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Long QT syndrome 2
CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACT
CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGCTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACT
Task1_train_12421
A variant found in Chromosome 7 affects KCNH2 (potassium voltage-gated channel subfamily H member 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Long QT syndrome 2
CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACT
CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGCTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACT
Task1_train_12422
A variant affecting Chromosome 7, within the gene KCNH2 (potassium voltage-gated channel subfamily H member 2), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Long QT syndrome
CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACT
CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGCTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACT
Task1_train_12423
A mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Long QT syndrome
CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACT
CTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGGTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACT
Task1_train_12424
Assess the clinical impact of this variant on gene KCNH2 (potassium voltage-gated channel subfamily H member 2), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; not provided
TTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTG
TTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTCGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTG
Task1_train_12425
An alteration has been detected in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Long QT syndrome
GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTC
GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCTGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTC
Task1_train_12426
A mutation on Chromosome 7 affecting KCNH2 (potassium voltage-gated channel subfamily H member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Short QT syndrome type 1
GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTC
GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCTGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTC
Task1_train_12427
This gene mutation involves KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it associated with any clinical condition, or is it benign?
Pathogenic; Long QT syndrome 2
GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTC
GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCTGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTC
Task1_train_12428
A genomic change on Chromosome 7 affects KCNH2 (potassium voltage-gated channel subfamily H member 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; KCNH2-related disorder
GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTC
GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCTGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTC
Task1_train_12429
The following genetic variant occurs in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Cardiovascular phenotype
GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTC
GCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCTGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTC
Task1_train_12430
Mutation context: Chromosome 7, Gene KCNH2 (potassium voltage-gated channel subfamily H member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Long QT syndrome
CACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCA
CACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCTAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCA
Task1_train_12431
This alteration occurs within gene KCNH2 (potassium voltage-gated channel subfamily H member 2) located on Chromosome 7. Is it associated with a disease or is it a benign variant?
Pathogenic; Long QT syndrome
CAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGC
CAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAGGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGC
Task1_train_12432
The gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Long QT syndrome
GAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGT
GAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCCGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGT
Task1_train_12433
A variant was discovered in gene KCNH2 (potassium voltage-gated channel subfamily H member 2), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Cardiovascular phenotype
TAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACA
TAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCACCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACA
Task1_train_12434
A mutation on Chromosome 7 affecting KCNH2 (potassium voltage-gated channel subfamily H member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Long QT syndrome 2
TAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACA
TAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCACCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACA
Task1_train_12435
This mutation is located in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Long QT syndrome
TAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACA
TAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCACCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACA
Task1_train_12436
A variant has been detected on Chromosome 7 in KCNH2 (potassium voltage-gated channel subfamily H member 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; not provided
GCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCT
GCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGACACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCT
Task1_train_12437
A mutation found in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Long QT syndrome 2
TGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCC
TGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATGCTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCC
Task1_train_12438
A mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Long QT syndrome
GTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACA
GTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTTCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACA
Task1_train_12439
This sequence change occurs on Chromosome 7, altering KCNH2 (potassium voltage-gated channel subfamily H member 2). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Cardiovascular phenotype
TTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGG
TTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCTGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGG
Task1_train_12440
A mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Long QT syndrome
TTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGG
TTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCTGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGG
Task1_train_12441
A variant on Chromosome 7 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Long QT syndrome 2
TGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGC
TGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCTGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGC
Task1_train_12442
The gene KCNH2 (potassium voltage-gated channel subfamily H member 2), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Cardiovascular phenotype
TGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGC
TGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCTGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGC
Task1_train_12443
This is a variant in KCNH2 (potassium voltage-gated channel subfamily H member 2), located on Chromosome 7. Is this mutation a likely cause of disease or not?
Pathogenic; Long QT syndrome
TGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGC
TGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCTGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGC
Task1_train_12444
A genomic change on Chromosome 7 affects KCNH2 (potassium voltage-gated channel subfamily H member 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; not provided
TTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGT
TTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGTGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGT
Task1_train_12445
A genetic alteration is present in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Long QT syndrome 2
TTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTG
TTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGCTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTG
Task1_train_12446
A genomic change on Chromosome 7 affects KCNH2 (potassium voltage-gated channel subfamily H member 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Long QT syndrome
GTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGG
GTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTCTCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGG
Task1_train_12447
This alteration occurs within gene KCNH2 (potassium voltage-gated channel subfamily H member 2) located on Chromosome 7. Is it associated with a disease or is it a benign variant?
Pathogenic; Cardiovascular phenotype
GTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGG
GTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTGTCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGG
Task1_train_12448
Gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Long QT syndrome
GTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGG
GTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTGTCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGG
Task1_train_12449
Here is a variant affecting KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Long QT syndrome
GTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGG
GTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTTTCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGG
Task1_train_12450
Located on Chromosome 7, this mutation impacts KCNH2 (potassium voltage-gated channel subfamily H member 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Cardiovascular phenotype
AACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGC
AACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGCTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGC
Task1_train_12451
This alteration occurs within gene KCNH2 (potassium voltage-gated channel subfamily H member 2) located on Chromosome 7. Is it associated with a disease or is it a benign variant?
Pathogenic; Cardiovascular phenotype
AACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGC
AACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGTTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGC
Task1_train_12452
A variant was discovered in gene KCNH2 (potassium voltage-gated channel subfamily H member 2), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Long QT syndrome
ACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAG
ACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCATGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAG
Task1_train_12453
A mutation on Chromosome 7 affecting KCNH2 (potassium voltage-gated channel subfamily H member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Congenital long QT syndrome
ACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAG
ACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCATGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAG
Task1_train_12454
The following genetic variant occurs in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Cardiovascular phenotype
ACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAG
ACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCATGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAG
Task1_train_12455
Gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Long QT syndrome
ATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCC
ATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGACGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCC
Task1_train_12456
This variant affects the gene KCNH2 (potassium voltage-gated channel subfamily H member 2) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Long QT syndrome 2
TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCA
TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCGGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCA
Task1_train_12457
Assess the clinical impact of this variant on gene KCNH2 (potassium voltage-gated channel subfamily H member 2), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Long QT syndrome
TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCA
TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCTGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCA
Task1_train_12458
Given this context: Chromosome 7, gene KCNH2 (potassium voltage-gated channel subfamily H member 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Long QT syndrome 2
TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCA
TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCTGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCA
Task1_train_12459
Given a variant located on Chromosome 7 and affecting KCNH2 (potassium voltage-gated channel subfamily H member 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Cardiovascular phenotype
TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCA
TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCTGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCA
Task1_train_12460
Gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCA
TATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCTGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCA
Task1_train_12461
The gene KCNH2 (potassium voltage-gated channel subfamily H member 2), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Cardiovascular phenotype
GACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCA
GACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGGGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCA
Task1_train_12462
Consider this mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is this a benign change or a disease-causing variant?
Pathogenic; Long QT syndrome
GACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCA
GACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGTGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCA
Task1_train_12463
Here is a variant affecting KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Cardiovascular phenotype
GACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCA
GACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGTGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCA
Task1_train_12464
Here is a genetic alteration in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Long QT syndrome 2
AGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAG
AGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGGAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAG
Task1_train_12465
This mutation is located in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Cardiac arrhythmia
AGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCC
AGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCGAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCC
Task1_train_12466
Gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Long QT syndrome
AGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCC
AGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCGAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCC
Task1_train_12467
This mutation occurs in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Cardiovascular phenotype
AGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCC
AGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCGAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCC
Task1_train_12468
Consider this mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is this a benign change or a disease-causing variant?
Pathogenic; Long QT syndrome 2
AGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCC
AGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCGAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCC
Task1_train_12469
Consider this mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is this a benign change or a disease-causing variant?
Pathogenic; Cardiovascular phenotype
GGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCC
GGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCACACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCC
Task1_train_12470
Here is a genetic alteration in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Long QT syndrome
GGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCC
GGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCACACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCC
Task1_train_12471
A mutation found in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; not provided
GTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCCACCAGCTCACCT
GTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGCCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCCACCAGCTCACCT
Task1_train_12472
This genomic variant is located on Chromosome 7, within the KCNH2 (potassium voltage-gated channel subfamily H member 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Long QT syndrome 2
AGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCCACCAGCTCACCTATGGCCTTGGGCCAGGTCTGTCCCCCCAGCCTGTTGTCCTATAGAATACTGAAGCTGGCTTGCTTAAGCCAAACCCTGACTCCTCAGCTGTGGG
AGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTCGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCCACCAGCTCACCTATGGCCTTGGGCCAGGTCTGTCCCCCCAGCCTGTTGTCCTATAGAATACTGAAGCTGGCTTGCTTAAGCCAAACCCTGACTCCTCAGCTGTGGG
Task1_train_12473
Given this variant in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Long QT syndrome 2
ATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCCACCAGCTCACCTATGGCCTTGGGCCAGGTCTGTCCCCCCAGCCTGTTGTCCTATAGAATACTGAAGCTGGCTTGCTTAAGCCAAACCCTGACTCCTCAGCTGTGGGTGGGAAGACCT
ATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGGCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCCACCAGCTCACCTATGGCCTTGGGCCAGGTCTGTCCCCCCAGCCTGTTGTCCTATAGAATACTGAAGCTGGCTTGCTTAAGCCAAACCCTGACTCCTCAGCTGTGGGTGGGAAGACCT
Task1_train_12474
This variant lies on Chromosome 7 and affects the gene KCNH2 (potassium voltage-gated channel subfamily H member 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Long QT syndrome
GCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCCACCAGCTCACCTATGGCCTTGGGCCAGGTCTGTCCCCCCAGCCTGTTGTCCTATAGAATACTGAAGCTGGCTTGCTTAAGCCAAACCCTGACTCCTCAGCTGTGGGTGGGAAGACCTACCTGTACCTGTCCCCCAGCTGGAAAGAGTGTATGAGCCAAGGCAGAATGTGCAGATGTGGGGTGGTGGGGGCAGGGATGGGATTCCCAGACTTAGCCCTGAGCCACCTCCCACTCCTCCTCCACTGTCGGCC
GCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGTCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCCACCAGCTCACCTATGGCCTTGGGCCAGGTCTGTCCCCCCAGCCTGTTGTCCTATAGAATACTGAAGCTGGCTTGCTTAAGCCAAACCCTGACTCCTCAGCTGTGGGTGGGAAGACCTACCTGTACCTGTCCCCCAGCTGGAAAGAGTGTATGAGCCAAGGCAGAATGTGCAGATGTGGGGTGGTGGGGGCAGGGATGGGATTCCCAGACTTAGCCCTGAGCCACCTCCCACTCCTCCTCCACTGTCGGCC
Task1_train_12475
This mutation occurs in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Does this change lead to a known medical condition, or is it benign?
Pathogenic; not provided
CCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCCACCAGCTCACCTATGGCCTTGGGCCAGGTCTGTCCCCCCAGCCTGTTGTCCTATAGAATACTGAAGCTGGCTTGCTTAAGCCAAACCCTGACTCCTCAGCTGTGGGTGGGAAGACCTACCTGTACCTGTCCCCCAGCTGGAAAGAGTGTATGAGCCAAGGCAGAATGTGCAGATGTGGGGTGGTGGGGGCAGGGATGGGATTCCCAGACTTAGCCCTGAGCCACCTCCCACTCCTCCTCCACTGTCGGCCCA
CCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCTTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCCACCAGCTCACCTATGGCCTTGGGCCAGGTCTGTCCCCCCAGCCTGTTGTCCTATAGAATACTGAAGCTGGCTTGCTTAAGCCAAACCCTGACTCCTCAGCTGTGGGTGGGAAGACCTACCTGTACCTGTCCCCCAGCTGGAAAGAGTGTATGAGCCAAGGCAGAATGTGCAGATGTGGGGTGGTGGGGGCAGGGATGGGATTCCCAGACTTAGCCCTGAGCCACCTCCCACTCCTCCTCCACTGTCGGCCCA
Task1_train_12476
A sequence alteration has been identified in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it disease-inducing or harmless?
Pathogenic; Long QT syndrome
GACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTACAGACGGTTAGCTGTTACTATCTGTCTCTCTGTTCTCTCTAGATTAGCACCAGCCGTTGTGTCAGCACACAAGATAAGGACAGACGTTGAGAGCAAGAATTTCAAAAACTTTACAGCAATTTGGCATCACCACAAAATCCACGCATGTGCTCTTGTATTTCACAGATGTACCAGCCTATAACATATTAGCATTAAAAAACACTGATCCTTCACCAAAGAGTCTAAGAAGCACTGCTTCTAGATCTTTCATCTTCACCTCGCCTCGCGTTCCCCTCGATCCTTGACTTTTTCTTTTCCAGTCTCTCTCTGTCCACCAAAGGCCCTGTACCAGATGAGGTCAGTCCCCTAAGCCAAGCACCCCTGGTCTCCCTCAGCTCCCTGTTGAGCACATGGGCCCCCTGCTGCCCCACCGCCCCCCGCCCCCCAACCCGTGCTGATTTCTGAAGGAGCCCCTTTTAGGCCAAGCACTCAGTTCCACCTAAGGCCCAGCTCAGAACCTCCTGCCCACAGGAAGTCCTTAATGAAACCAGAAGGCAGTTAACAGCCCGCTCCAGCTCCTCTATGGCCCCCCAGGGACCCACCAGGCAGGCTCCTCATCTCCCACTCTCCCTAGGGAGCCTCTTCCTTCCTCTCAGCTCCCCCTCTGCTCAGCTGTCTTCTCTGCCTCCCAGTGTCTCCCGTCCCCACGTTAGTGCCTAGCACCTAGAGTCATACGCCCTGGGGCCAGCACTGGCTGGTGGTGTCAGTGACAGGCCATGCTGACAGGGAGGCTGCAGGCATGGGGGAGAGGCAAGGGTGACAAACCATGCAGTCCCACTCCATCTTAGCAACCCAGCCTCACTTTTTTTTTTTTTTTTTTTCTGAGACAGGGTTTCACTCTGTCACCCAGGGTGGAGTGCAGCGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGCTGCATGCTACCACACCCAGCTAACTTTTGTATATTTTGATAGAGACAGGGTTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCAAGGATTACAGGTGTGAGCCACCGCACCCAGCCTCTCCTCACCTTTCTACCTCCTAGAGCCTCCCTGGCTCACCCCTACTCCTGATCTCAAACCCACAGCAGGGGCGACAGTGGTGGTGCTGTGAGTCAAGGTAGAAGCCGGCAACAGACACCG
GACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACCTGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTACAGACGGTTAGCTGTTACTATCTGTCTCTCTGTTCTCTCTAGATTAGCACCAGCCGTTGTGTCAGCACACAAGATAAGGACAGACGTTGAGAGCAAGAATTTCAAAAACTTTACAGCAATTTGGCATCACCACAAAATCCACGCATGTGCTCTTGTATTTCACAGATGTACCAGCCTATAACATATTAGCATTAAAAAACACTGATCCTTCACCAAAGAGTCTAAGAAGCACTGCTTCTAGATCTTTCATCTTCACCTCGCCTCGCGTTCCCCTCGATCCTTGACTTTTTCTTTTCCAGTCTCTCTCTGTCCACCAAAGGCCCTGTACCAGATGAGGTCAGTCCCCTAAGCCAAGCACCCCTGGTCTCCCTCAGCTCCCTGTTGAGCACATGGGCCCCCTGCTGCCCCACCGCCCCCCGCCCCCCAACCCGTGCTGATTTCTGAAGGAGCCCCTTTTAGGCCAAGCACTCAGTTCCACCTAAGGCCCAGCTCAGAACCTCCTGCCCACAGGAAGTCCTTAATGAAACCAGAAGGCAGTTAACAGCCCGCTCCAGCTCCTCTATGGCCCCCCAGGGACCCACCAGGCAGGCTCCTCATCTCCCACTCTCCCTAGGGAGCCTCTTCCTTCCTCTCAGCTCCCCCTCTGCTCAGCTGTCTTCTCTGCCTCCCAGTGTCTCCCGTCCCCACGTTAGTGCCTAGCACCTAGAGTCATACGCCCTGGGGCCAGCACTGGCTGGTGGTGTCAGTGACAGGCCATGCTGACAGGGAGGCTGCAGGCATGGGGGAGAGGCAAGGGTGACAAACCATGCAGTCCCACTCCATCTTAGCAACCCAGCCTCACTTTTTTTTTTTTTTTTTTTCTGAGACAGGGTTTCACTCTGTCACCCAGGGTGGAGTGCAGCGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGCTGCATGCTACCACACCCAGCTAACTTTTGTATATTTTGATAGAGACAGGGTTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCAAGGATTACAGGTGTGAGCCACCGCACCCAGCCTCTCCTCACCTTTCTACCTCCTAGAGCCTCCCTGGCTCACCCCTACTCCTGATCTCAAACCCACAGCAGGGGCGACAGTGGTGGTGCTGTGAGTCAAGGTAGAAGCCGGCAACAGACACCG
Task1_train_12477
A sequence alteration has been identified in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is it disease-inducing or harmless?
Pathogenic; not provided
AGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTACAGACGGTTAGCTGTTACTATCTGTCTCTCTGTTCTCTCTAGATTAGCACCAGCCGTTGTGTCAGCACACAAGATAAGGACAGACGTTGAGAGCAAGAATTTCAAAAACTTTACAGCAATTTGGCATCACCACAAAATCCACGCATGTGCTCTTGTATTTCACAGATGTACCAGCCTATAACATATTAGCATTAAAAAACACTGATCCTTCACCAAAGAGTCTAAGAAGCACTGCTTCTAGATCTTTCATCTTCACCTCGCCTCGCGTTCCCCTCGATCCTTGACTTTTTCTTTTCCAGTCTCTCTCTGTCCACCAAAGGCCCTGTACCAGATGAGGTCAGTCCCCTAAGCCAAGCACCCCTGGTCTCCCTCAGCTCCCTGTTGAGCACATGGGCCCCCTGCTGCCCCACCGCCCCCCGCCCCCCAACCCGTGCTGATTTCTGAAGGAGCCCCTTTTAGGCCAAGCACTCAGTTCCACCTAAGGCCCAGCTCAGAACCTCCTGCCCACAGGAAGTCCTTAATGAAACCAGAAGGCAGTTAACAGCCCGCTCCAGCTCCTCTATGGCCCCCCAGGGACCCACCAGGCAGGCTCCTCATCTCCCACTCTCCCTAGGGAGCCTCTTCCTTCCTCTCAGCTCCCCCTCTGCTCAGCTGTCTTCTCTGCCTCCCAGTGTCTCCCGTCCCCACGTTAGTGCCTAGCACCTAGAGTCATACGCCCTGGGGCCAGCACTGGCTGGTGGTGTCAGTGACAGGCCATGCTGACAGGGAGGCTGCAGGCATGGGGGAGAGGCAAGGGTGACAAACCATGCAGTCCCACTCCATCTTAGCAACCCAGCCTCACTTTTTTTTTTTTTTTTTTTCTGAGACAGGGTTTCACTCTGTCACCCAGGGTGGAGTGCAGCGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGCTGCATGCTACCACACCCAGCTAACTTTTGTATATTTTGATAGAGACAGGGTTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCAAGGATTACAGGTGTGAGCCACCGCACCCAGCCTCTCCTCACCTTTCTACCTCCTAGAGCCTCCCTGGCTCACCCCTACTCCTGATCTCAAACCCACAGCAGGGGCGACAGTGGTGGTGCTGTGAGTCAAGGTAGAAGCCGGCAACAGACACCGGCAACCTGGAGGCGACGCCACCCCTGG
AGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCCCGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTACAGACGGTTAGCTGTTACTATCTGTCTCTCTGTTCTCTCTAGATTAGCACCAGCCGTTGTGTCAGCACACAAGATAAGGACAGACGTTGAGAGCAAGAATTTCAAAAACTTTACAGCAATTTGGCATCACCACAAAATCCACGCATGTGCTCTTGTATTTCACAGATGTACCAGCCTATAACATATTAGCATTAAAAAACACTGATCCTTCACCAAAGAGTCTAAGAAGCACTGCTTCTAGATCTTTCATCTTCACCTCGCCTCGCGTTCCCCTCGATCCTTGACTTTTTCTTTTCCAGTCTCTCTCTGTCCACCAAAGGCCCTGTACCAGATGAGGTCAGTCCCCTAAGCCAAGCACCCCTGGTCTCCCTCAGCTCCCTGTTGAGCACATGGGCCCCCTGCTGCCCCACCGCCCCCCGCCCCCCAACCCGTGCTGATTTCTGAAGGAGCCCCTTTTAGGCCAAGCACTCAGTTCCACCTAAGGCCCAGCTCAGAACCTCCTGCCCACAGGAAGTCCTTAATGAAACCAGAAGGCAGTTAACAGCCCGCTCCAGCTCCTCTATGGCCCCCCAGGGACCCACCAGGCAGGCTCCTCATCTCCCACTCTCCCTAGGGAGCCTCTTCCTTCCTCTCAGCTCCCCCTCTGCTCAGCTGTCTTCTCTGCCTCCCAGTGTCTCCCGTCCCCACGTTAGTGCCTAGCACCTAGAGTCATACGCCCTGGGGCCAGCACTGGCTGGTGGTGTCAGTGACAGGCCATGCTGACAGGGAGGCTGCAGGCATGGGGGAGAGGCAAGGGTGACAAACCATGCAGTCCCACTCCATCTTAGCAACCCAGCCTCACTTTTTTTTTTTTTTTTTTTCTGAGACAGGGTTTCACTCTGTCACCCAGGGTGGAGTGCAGCGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGCTGCATGCTACCACACCCAGCTAACTTTTGTATATTTTGATAGAGACAGGGTTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCAAGGATTACAGGTGTGAGCCACCGCACCCAGCCTCTCCTCACCTTTCTACCTCCTAGAGCCTCCCTGGCTCACCCCTACTCCTGATCTCAAACCCACAGCAGGGGCGACAGTGGTGGTGCTGTGAGTCAAGGTAGAAGCCGGCAACAGACACCGGCAACCTGGAGGCGACGCCACCCCTGG
Task1_train_12478
A mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; not provided
CTGGAGAGGGGACAAGTTTGAACTTGGGCTGGGGATCTGGGTTCTAATCCCACTCCTTCCACTGATTCACTGGTCATCAGACCTCTGCTTCTCCGTCCTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTA
CTGGAGAGGGGACAAGTTTGAACTTGGGCTGGGGATCTGGGTTCTAATCCCACTCCTTCCACTGATTCACTGGTCATCAGACCTCTGCTTCTCCGTCCTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCATTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTA
Task1_train_12479
This variant lies on Chromosome 7 and affects the gene KCNH2 (potassium voltage-gated channel subfamily H member 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Short QT syndrome type 1
ATCCCACTCCTTCCACTGATTCACTGGTCATCAGACCTCTGCTTCTCCGTCCTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGA
ATCCCACTCCTTCCACTGATTCACTGGTCATCAGACCTCTGCTTCTCCGTCCTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCCGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGA
Task1_train_12480
The gene KCNH2 (potassium voltage-gated channel subfamily H member 2), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Long QT syndrome
CCGTCCTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTG
CCGTCCTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCGGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTG
Task1_train_12481
The gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Long QT syndrome 2
CTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCT
CTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCGGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCT
Task1_train_12482
This variant impacts the gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is the change likely to result in a pathogenic outcome?
Pathogenic; Long QT syndrome 2
GTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAA
GTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGGGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAA
Task1_train_12483
This variant impacts the gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Is the change likely to result in a pathogenic outcome?
Pathogenic; not provided
AGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAATACTGACCATCGGACTGACCCCTCCTTCCCCCAACCACCGTTACAA
AGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCCCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAATACTGACCATCGGACTGACCCCTCCTTCCCCCAACCACCGTTACAA
Task1_train_12484
A variant has been detected on Chromosome 7 in KCNH2 (potassium voltage-gated channel subfamily H member 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Short QT syndrome type 1
CCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAATACTGACCATCGGACTGACCCCTCCTTCCCCCAACCACCGTTACAAGCACGCG
CCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGACGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAATACTGACCATCGGACTGACCCCTCCTTCCCCCAACCACCGTTACAAGCACGCG
Task1_train_12485
This sequence change occurs on Chromosome 7, altering KCNH2 (potassium voltage-gated channel subfamily H member 2). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Long QT syndrome
TCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAATACTGACCATCGGACTGACCCCTCCTTCCCCCAACCACCGTTACAAGCACGCGTTGTCCTGTGCT
TCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGCAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAATACTGACCATCGGACTGACCCCTCCTTCCCCCAACCACCGTTACAAGCACGCGTTGTCCTGTGCT
Task1_train_12486
The gene KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Short QT syndrome type 1
CTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAATACTGACCATCGGACTGACCCCTCCTTCCCCCAACCACCGTTACAAGCACGCGTTGTCCTGTGCTC
CTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTCGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAATACTGACCATCGGACTGACCCCTCCTTCCCCCAACCACCGTTACAAGCACGCGTTGTCCTGTGCTC
Task1_train_12487
The following genetic variant occurs in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Long QT syndrome
CCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAATACTGACCATCGGACTGACCCCTCCTTCCCCCAACCACCGTTACAAGCACGCGTTGTCCTGTGCTCAC
CCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGGTGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAATACTGACCATCGGACTGACCCCTCCTTCCCCCAACCACCGTTACAAGCACGCGTTGTCCTGTGCTCAC
Task1_train_12488
This alteration occurs within gene KCNH2 (potassium voltage-gated channel subfamily H member 2) located on Chromosome 7. Is it associated with a disease or is it a benign variant?
Pathogenic; Long QT syndrome 2
GGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAATACTGACCATCGGACTGACCCCTCCTTCCCCCAACCACCGTTACAAGCACGCGTTGTCCTGTGCTCACAGGGTCATGGACAAGGAATGTCATCCTCTC
GGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGACGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAATACTGACCATCGGACTGACCCCTCCTTCCCCCAACCACCGTTACAAGCACGCGTTGTCCTGTGCTCACAGGGTCATGGACAAGGAATGTCATCCTCTC
Task1_train_12489
This alteration in KCNH2 (potassium voltage-gated channel subfamily H member 2) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Long QT syndrome
TCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAATACTGACCATCGGACTGACCCCTCCTTCCCCCAACCACCGTTACAAGCACGCGTTGTCCTGTGCTCACAGGGTCATGGACAAGGAATGTCATCCTCTCCCAACTCC
TCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATTAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAATACTGACCATCGGACTGACCCCTCCTTCCCCCAACCACCGTTACAAGCACGCGTTGTCCTGTGCTCACAGGGTCATGGACAAGGAATGTCATCCTCTCCCAACTCC
Task1_train_12490
Assess the clinical impact of this variant on gene KCNH2 (potassium voltage-gated channel subfamily H member 2), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Congenital long QT syndrome
CTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAATACTGACCATCGGACTGACCCCTCCTTCCCCCAACCACCGTTACAAGCACGCGTTGTCCTGTGCTCACAGGGTCATGGACAAGGAATGTCATCCTCTCCCAACTCCCAGGG
CTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTCACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCCTCGTAGGCCCGCCCACAGCCTCCCCCTGGGCCCACCCCCACCTCTCAGGGAGGCCCTCAACCAGTGTCATTGTCTCCACCCCCTCAGGATCATCTTGTTCCTCCGCTTCACACAATACTGACCATCGGACTGACCCCTCCTTCCCCCAACCACCGTTACAAGCACGCGTTGTCCTGTGCTCACAGGGTCATGGACAAGGAATGTCATCCTCTCCCAACTCCCAGGG
Task1_train_12491
This variant impacts the gene SLC4A2 (solute carrier family 4 member 2) on Chromosome 7. Is the change likely to result in a pathogenic outcome?
Pathogenic; Osteopetrosis, autosomal recessive 9
AAGACCCGCCCTTCACCCCAGCCCTCCCCGCGCTCTTCCTTGTTCTGGCTGCTGGCACCGCTATGGAGGGGGCTGCATACCCCCGCCCTTGGAGATCCCGATGCCCTTCAGGTCCAGAAGCTCTTGAGCAAATATTTGGCGGCGCCTGGAGCTGAGACCGTGGGTGGGTGGGGGGCTGGACCAAGGCTGCCTGGCCAGGCGGCTGCCGCTTAGCTGGGCTGAGCTCTTACAAGCGCCGCATTCCCTGCCGGCTGTGCCGGCCGGCCGCTGCTCCGCGCCCGCAGGATGACTCAGGTGGGGGCTGTGGGGGTGGGGTGAGGGGTGGGGCTAGGGACCTGGCCCAGGGCTCGGGCCGGGGGCCTGGGGGCTGGGGGAGCTCTCCTGGGGGCTGAAGGGCATCCATTCCGGTCCCTGCGGGGCTGGGTTTGTTTGACTCGGACAGGCTCTGGGTCGGTTAGCTTGGGCGCCGCCAGAAGTTACTTTTTGGGCTCAGCAGTTGTCCTCAGGCCAACTGGAGTTTCTTCACTATCTGTCATGTGAACTTCCCGGTTCACACGCCCTCCCTCCAGGCTGCAGATGGGCTGGACACACGGGATTTCTTCCACCTGCCCTGAACTGACTACACAGCCAAGGGGGCTGGGCTGGGATGAGGGTAGCTCAGAACCCAGGGGACAGCTGCTGGGGGGACTGGGTCTCTGCATCTGAGGGGGCAGACTGCTGGGGGGACACTGGGTCACTGTGTTTGAAGGGATGTCTACTGGTAGGGTGACTGGCTTCCTGCATTTGAGGGGGCAGACTGCTTGGGAGGACTGGGTCCCTATATTTGTTTCCTTTTTTTTTGTTTTTGTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACTGGTGTCCGCCACCACGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCCAGCAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGGGTCCCTATATTTAAGGGACAGCTGCTGGGGGCATATAGAGCCACCAGCATTAGAGGAGATAGCTGCTGGCGGGGGAGGGTTCCTGGGTCTCTGGCACTGGGAAGGGTGAGGTTTCGGGGTACAATTCCCAGTGAGCCCTGTGTGTTTTCTCTCTGCCTTCTTCCTCACAGCCAGAGCCAGAGAGCTTGGGCCCTGGGACGCCTGGGTTCCCCGAGCAGGAGGAAGACGAACTTCACCGCACCCTGGGCGTGGAGCGGTTTGAGGAGATCCTACAGGAGGCCGGGTCTCGTGGAGGGGAGGAGCCAGGCCGCAGCTATGGGGAGGAAGACTTTGAGTGTGAGGGGGCAGGCAGGGGAGGGGGAGGTGGGGGGATCAGGTTTGACTGTCCAGCAAAGAAGGGACTGGGGTCCTAGTGGGAGGAGTGGGGCTAGGGGGCAGGATGGCAGGGGAGGGACACTGTGCCTGCCACAGCCAAGTCCCCCTCCTCCCTGCAGACCACCGCCAGTCCTCCCACCACATCCATCACCCACTGTCCACCCACCTGCCTCCGGATGCACGCCGCCGCAAGACACCCCAGGGCCCAGGACGGAAGCCTCGAAGGCGCCCGGGAGCCTCCCCGACTGGAGAAACCCCGACCATTGAGGAGGGGGAGGAAGATGAGGATGAGGCCAGCGAGGCTGAGGGGGCCCGGGCTCTCACTCAGCCGTCCCCTGTCTCCACACCCTCCTCGGTGCAGGTGCGCTGGGTGCGGGCTCCTAGGGCATGTCGGCAGGGCCCTGGCCTGGTCACTCCTGCCCATGTGGGTCCCTGTTACAGTTCTTTCTCCAAGAGGATGACAGTGCTGACCGGAAGGCAGAGAGGACCAGTCCATCTTCCCCTGCACCACTGCCCCACCAGGAGGCGACTCCTCGGGCCTCCAAAGGGGCCCAGGCTGGGTAAGTACACCCCAATCAACAGTGTCCCCAACAGACACTTCCCCTGCTAGGATAGTGAGGTGATGCTGGAACAAAGCATGAGCCTTGGAATCACCAGGCCAGGGTTCAAATCCCAGGCCCGCACTCACTGGCTGGGCAAGTAACTTAATTAAGCTCTCCAAGCCCCAGGTTCCTCATCAGAAACCAAGCATAACAGAACGTTTCTCACTGGGCGGCTGTAGGGATTAAGGGTGGTGTGAATTAAAGTTCTAAGTATGGTTTAGCCTGGCAAAGAACACGCGCTGCCTAAGCTGCCTCCCACCCCTGCCCGTCTCCCACCCCTGCCTGTGGTGTAGTGGGAGCAATAGCCAGCACTGGCTCAGGTACTGGACTGGTGACCTCCCAGCACTTGCTGGAGGCCCCAGGGTTCAAGAGGCAAAGGAGACCCCCTCTCCTTGGGGCACTGCCAACACACGCTGGTTGGAAACCAGATGTTATCATGTGAGATGGCATCAGCATGTTGTCACTGCACCCAGTGGCTGGTTCAGGCAAAGTGTCAGTACCAGTGGATGATTGGCATTTGGGGGAAGGCTTCCTGGAGAAAATGACTTTGAACTAGGTCTCAAGGTCACTACTATCACGGACCTGTTGTTTTCTGGGTGCCAGGCAGCGTGAAGGGCTGCGGGAAGTGAAGGGCATGTTGTCCCCTCTGGGAGCGCATAACCTGCTGGGACCGTGGCACAGATGCGGGCGGCGGGTTACAGCGGCCTTAGGGGCGCCAGGATGGCAGGGAGGAGGCTGGGGCTTCCGAGAAAGCCTGGCATCAGGAAAGGGTCGGGTTTGTGGGCCAGGGCACGTGGGGGCTAGGAGAGCCTGGTCATGGGAGGGGACTCTGATGTTGAGTCAGAGCTTGGAGCTCTGGGGGCTCTTGATGTTGAGAGAGAGGGGTAGGACCACGTGGCAGGGCCCTGGCCACCCAGTGTGGCAGAGAGAAGGGAGAGAGCAGAAGCTGGCGTCTGTGAAGCCTGAGGCTTACCCCTCCTCCCAGGGCAGGAAGCTGTCTGCCATCTCCAAGGCCCGGTGCCACGGACTTTATTCCTCTTGATTAAACATAGGCCCCTGTGAACCTCTGAGTCCCATGTCTAGGGATGTGCCAGGGGGTGAGGGGGCAGGGGGATGAATGCTGACTGTCAGGAAGCAGCGTCCTGAGCTCCTTTTCTGCACCAGGACCTGCACTGGGACTTTTCCAAAATCTCACCCCTCATGGCACCGCCAAAGGCTGGTCTCAGCCCTGGCTGCTGAGGAGCAGTTGACGTTCGCAGTGGCCGTTCAGAGGGGCCTCGGGGTGACCGTTTGGGGCTGCACAGCCAGAAAAGGGTGGAGCTGGGGTTCGGATGCTGGCAGTCTGCATCCAGAATCCTCCCCCTCCCCGTGCCCGCACCTCCCGGGAGTGGGAGCTAGGAGGGCCTGGAGTCCGATGTGGGTCCCCTCCCTGGCTACCGCCTGCGTGGGTGCTGGGCGTGGGGGAGGAGGCCAGGTTTCTCGGGCTCACGGCCATTCTGTCTGCCTAGAACCCAGGTGGAGGAGGCGGAGGCGGAGGCGGTGGCGGTGGCCAGTGGCACTGCAGGGGGTGACGACGGGGGTGCCTCGGGGCGCCCCCTGCCCAAAGCCCAGCCTGGGCACCGCAGCTACAACCTTCAGGAGAGGAGGCGCATCGGGAGCATGACTGGGGCTGAGCAGGCACTGCTGCCCCGGGTCCCCACGGATGAGATTGAGGCCCAGACGCTGGCCACGGCCGACCTAGACCTCATGAAGAGTAAGTGCTGGGCCTTGGCCAAGCCCGGCACTGGTGGGCAAAGGAGTGAGAGAAAGGGGGAGCCCAACCTTGGTCCTCTGCCCCCACAGGTCACCGGTTTGAGGACGTTCCTGGGGTGCGGCGGCACTTGGTGCGGAAGAATGCCAAAGGTTCCACACAGAGTGGCCGAGAAGGGCGGGAGCCTGGCCCCACACCTCGGGCCCGACCCCGGGCCCCCCACAAGCCCCATG
AAGACCCGCCCTTCACCCCAGCCCTCCCCGCGCTCTTCCTTGTTCTGGCTGCTGGCACCGCTATGGAGGGGGCTGCATACCCCCGCCCTTGGAGATCCCGATGCCCTTCAGGTCCAGAAGCTCTTGAGCAAATATTTGGCGGCGCCTGGAGCTGAGACCGTGGGTGGGTGGGGGGCTGGACCAAGGCTGCCTGGCCAGGCGGCTGCCGCTTAGCTGGGCTGAGCTCTTACAAGCGCCGCATTCCCTGCCGGCTGTGCCGGCCGGCCGCTGCTCCGCGCCCGCAGGATGACTCAGGTGGGGGCTGTGGGGGTGGGGTGAGGGGTGGGGCTAGGGACCTGGCCCAGGGCTCGGGCCGGGGGCCTGGGGGCTGGGGGAGCTCTCCTGGGGGCTGAAGGGCATCCATTCCGGTCCCTGCGGGGCTGGGTTTGTTTGACTCGGACAGGCTCTGGGTCGGTTAGCTTGGGCGCCGCCAGAAGTTACTTTTTGGGCTCAGCAGTTGTCCTCAGGCCAACTGGAGTTTCTTCACTATCTGTCATGTGAACTTCCCGGTTCACACGCCCTCCCTCCAGGCTGCAGATGGGCTGGACACACGGGATTTCTTCCACCTGCCCTGAACTGACTACACAGCCAAGGGGGCTGGGCTGGGATGAGGGTAGCTCAGAACCCAGGGGACAGCTGCTGGGGGGACTGGGTCTCTGCATCTGAGGGGGCAGACTGCTGGGGGGACACTGGGTCACTGTGTTTGAAGGGATGTCTACTGGTAGGGTGACTGGCTTCCTGCATTTGAGGGGGCAGACTGCTTGGGAGGACTGGGTCCCTATATTTGTTTCCTTTTTTTTTGTTTTTGTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACTGGTGTCCGCCACCACGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCCAGCAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGGGTCCCTATATTTAAGGGACAGCTGCTGGGGGCATATAGAGCCACCAGCATTAGAGGAGATAGCTGCTGGCGGGGGAGGGTTCCTGGGTCTCTGGCACTGGGAAGGGTGAGGTTTCGGGGTACAATTCCCAGTGAGCCCTGTGTGTTTTCTCTCTGCCTTCTTCCTCACAGCCAGAGCCAGAGAGCTTGGGCCCTGGGACGCCTGGGTTCCCCGAGCAGGAGGAAGACGAACTTCACCGCACCCTGGGCGTGGAGCGGTTTGAGGAGATCCTACAGGAGGCCGGGTCTCGTGGAGGGGAGGAGCCAGGCCGCAGCTATGGGGAGGAAGACTTTGAGTGTGAGGGGGCAGGCAGGGGAGGGGGAGGTGGGGGGATCAGGTTTGACTGTCCAGCAAAGAAGGGACTGGGGTCCTAGTGGGAGGAGTGGGGCTAGGGGGCAGGATGGCAGGGGAGGGACACTGTGCCTGCCACAGCCAAGTCCCCCTCCTCCCTGCAGACCACCGCCAGTCCTCCCACCACATCCATCACCCACTGTCCACCCACCTGCCTCCGGATGCACGCCGCCGCAAGACACCCCAGGGCCCAGGACGGAAGCCTCGAAGGCGCCCGGGAGCCTCCCCGACTGGAGAAACCCCGACCATTGAGGAGGGGGAGGAAGATGAGGATGAGGCCAGCGAGGCTGAGGGGGCCCGGGCTCTCACTCAGCCGTCCCCTGTCTCCACACCCTCCTCGGTGCAGGTGCGCTGGGTGCGGGCTCCTAGGGCATGTCGGCAGGGCCCTGGCCTGGTCACTCCTGCCCATGTGGGTCCCTGTTACAGTTCTTTCTCCAAGAGGATGACAGTGCTGACCGGAAGGCAGAGAGGACCAGTCCATCTTCCCCTGCACCACTGCCCCACCAGGAGGCGACTCCTCGGACCTCCAAAGGGGCCCAGGCTGGGTAAGTACACCCCAATCAACAGTGTCCCCAACAGACACTTCCCCTGCTAGGATAGTGAGGTGATGCTGGAACAAAGCATGAGCCTTGGAATCACCAGGCCAGGGTTCAAATCCCAGGCCCGCACTCACTGGCTGGGCAAGTAACTTAATTAAGCTCTCCAAGCCCCAGGTTCCTCATCAGAAACCAAGCATAACAGAACGTTTCTCACTGGGCGGCTGTAGGGATTAAGGGTGGTGTGAATTAAAGTTCTAAGTATGGTTTAGCCTGGCAAAGAACACGCGCTGCCTAAGCTGCCTCCCACCCCTGCCCGTCTCCCACCCCTGCCTGTGGTGTAGTGGGAGCAATAGCCAGCACTGGCTCAGGTACTGGACTGGTGACCTCCCAGCACTTGCTGGAGGCCCCAGGGTTCAAGAGGCAAAGGAGACCCCCTCTCCTTGGGGCACTGCCAACACACGCTGGTTGGAAACCAGATGTTATCATGTGAGATGGCATCAGCATGTTGTCACTGCACCCAGTGGCTGGTTCAGGCAAAGTGTCAGTACCAGTGGATGATTGGCATTTGGGGGAAGGCTTCCTGGAGAAAATGACTTTGAACTAGGTCTCAAGGTCACTACTATCACGGACCTGTTGTTTTCTGGGTGCCAGGCAGCGTGAAGGGCTGCGGGAAGTGAAGGGCATGTTGTCCCCTCTGGGAGCGCATAACCTGCTGGGACCGTGGCACAGATGCGGGCGGCGGGTTACAGCGGCCTTAGGGGCGCCAGGATGGCAGGGAGGAGGCTGGGGCTTCCGAGAAAGCCTGGCATCAGGAAAGGGTCGGGTTTGTGGGCCAGGGCACGTGGGGGCTAGGAGAGCCTGGTCATGGGAGGGGACTCTGATGTTGAGTCAGAGCTTGGAGCTCTGGGGGCTCTTGATGTTGAGAGAGAGGGGTAGGACCACGTGGCAGGGCCCTGGCCACCCAGTGTGGCAGAGAGAAGGGAGAGAGCAGAAGCTGGCGTCTGTGAAGCCTGAGGCTTACCCCTCCTCCCAGGGCAGGAAGCTGTCTGCCATCTCCAAGGCCCGGTGCCACGGACTTTATTCCTCTTGATTAAACATAGGCCCCTGTGAACCTCTGAGTCCCATGTCTAGGGATGTGCCAGGGGGTGAGGGGGCAGGGGGATGAATGCTGACTGTCAGGAAGCAGCGTCCTGAGCTCCTTTTCTGCACCAGGACCTGCACTGGGACTTTTCCAAAATCTCACCCCTCATGGCACCGCCAAAGGCTGGTCTCAGCCCTGGCTGCTGAGGAGCAGTTGACGTTCGCAGTGGCCGTTCAGAGGGGCCTCGGGGTGACCGTTTGGGGCTGCACAGCCAGAAAAGGGTGGAGCTGGGGTTCGGATGCTGGCAGTCTGCATCCAGAATCCTCCCCCTCCCCGTGCCCGCACCTCCCGGGAGTGGGAGCTAGGAGGGCCTGGAGTCCGATGTGGGTCCCCTCCCTGGCTACCGCCTGCGTGGGTGCTGGGCGTGGGGGAGGAGGCCAGGTTTCTCGGGCTCACGGCCATTCTGTCTGCCTAGAACCCAGGTGGAGGAGGCGGAGGCGGAGGCGGTGGCGGTGGCCAGTGGCACTGCAGGGGGTGACGACGGGGGTGCCTCGGGGCGCCCCCTGCCCAAAGCCCAGCCTGGGCACCGCAGCTACAACCTTCAGGAGAGGAGGCGCATCGGGAGCATGACTGGGGCTGAGCAGGCACTGCTGCCCCGGGTCCCCACGGATGAGATTGAGGCCCAGACGCTGGCCACGGCCGACCTAGACCTCATGAAGAGTAAGTGCTGGGCCTTGGCCAAGCCCGGCACTGGTGGGCAAAGGAGTGAGAGAAAGGGGGAGCCCAACCTTGGTCCTCTGCCCCCACAGGTCACCGGTTTGAGGACGTTCCTGGGGTGCGGCGGCACTTGGTGCGGAAGAATGCCAAAGGTTCCACACAGAGTGGCCGAGAAGGGCGGGAGCCTGGCCCCACACCTCGGGCCCGACCCCGGGCCCCCCACAAGCCCCATG
Task1_train_12492
Here’s a variant in SLC4A2 (solute carrier family 4 member 2) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Osteopetrosis, autosomal recessive 9
AGCCTCCCAAAATGTTGGGAATACAGGCATGAGCCACTGTGCCTGGCTTAAAATTAAATTAAAAAAAAAAAAGTAAACGAAGCAGCTGCTGGGCGCGGTGGCTCATGCCTATAATCCCAGCACCTTGGGAGGCTGAGGTGGGTGGATTACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAATCCCATCTCTACTAAAAATACAAAAAATTAGCGGGGCACGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGGTAGAGCTTGCAGTGAGCCAAGATCATGCCATTGCGCTCCAGCCTGAACGACAGAGCGAGACTCTTATCACCAAAAAAAAAAAAAAAAAAAGCAGCTGAGGACCTAGAAACCGGCTTTTAGAATTGTTTCCCAACTAGGAGTCCATAGGCCGTGAGTGAGGCTCAGGGTCTTTGGGTAAAGGGCCGCCGTGGAAGGGCTTTCTCACTGGGCGTTGTGGTCTCCAGCCTGGCTGCTCAGGGGTGTTTGGTTCTGTTTATTCTTTAGTCTTTGTTCCTGAAAGTTGGCCTTGCCAGATGAATGACCTGGTAACTTTTGAAGGGACTGTTATTTCTGTGTGCAATGGCGAGGGGAGGTTGAGAAGCCGACAAGGAAGTCAAGAAGCTTGGGGCGGAGGGGGGTCTTCAGATGGCTCCAGGGTGGCCACACGGACGAGGCTGCAGACCAGCTGAGTTGTGTATCAGGGTAGAACTAGGCCCCTAGAGTGACACAGCACCTGGCTCACTTAGAGGAGAGTTTTCTAACAGCCAAGAGGGTTCAGCCAGAGTGGGCGGCCTGGACCGTCCCCATGGAGGCCGGATGCTTCCTGGAAGGGGTGTCTGACAGGCGTGGCCTAGATGGCCTCTCTGGTCACTGAGGTTCAGTAGTCTCTGTGGAGCCTCATAACGTTCCTGGGGGTCTGGGGGAGGGGAGGAACCAGAGGGTTGATGTGACGTAGGCTCCTGTGGGAGCCAGAACTCGAGCCCGCGTCCTTCATGTGTAGGCTGGTGTTCCAGCCCCGGCACCCACCCACCTGTCCCCAGCTCCTGCTCCCCATCCCATCTCCTGCCACTGTTTTGTGACCTGGGGCTGAGGGGCCCTCTGTGCCATCTTATGCTAGGGGCTGTGCTCTTGGATCTGGACCAGCAGACCCTGCCCGGAGTGGCCCACCAGGTGGTGGAGCAGATGGTCATCTCTGACCAGATCAAGGCCGAGGACAGGGCCAACGTGCTGCGGGCTCTGCTGTTGAAACACAGGTGAGGCCCTGTGGGCCAGTTGGGGATGACACTTCAGCCCACCTGCCCTGGCCCTTGTCATTGACCCTCCTTTGCCTCACTGCCCTCTGCCCCACCAGCCACCCAAGTGATGAGAAGGACTTCTCCTTCCCCCGCAACATCTCAGCTGGCTCCCTGGGCTCCCTGCTGGGGCATCACCATGGTCAGGGGGCTGAGAGTGACCCCCACGTCACCGAGCCTCTCATGGGAGGTGTTCCTGAGACCCGGCTGGAGGTGGAGCGAGAGGTGAGGGGAGAACCAGCCCTGCCTGGGCTGGCGGCAGGGCTGAGGAAGCCTGGGTGTGGACTCAGAGTGGGAGGGGCCTGGCTGGGCTGAGCCCTGTCTGTGTCCCCCAGCGTGAGCTGCCGCCTCCAGCACCACCAGCTGGCATCACCCGCTCCAAGTCCAAGCACGAGCTGAAACTGCTGGAGAAGATTCCTGAGAATGCCGAGGCCACGGTGGTCCTTGTGGGTATGTGGGGCAGGTCACATGTAGGGGGCTTGGTGGCCAGGCCTTGAGGCAGAGTCCTGTAGTCTCCCTGGCCCTGCCTTGGTGCCACCCTGGGCGAGGGACTGGAAGGCGGTCCTGCTGCTCTGCTCTTGCCCACGATGGTCCCACGCCCCTAGGCTGCGTGGAGTTCCTCTCCCGCCCCACCATGGCCTTTGTGCGGCTCCGGGAGGCTGTGGAGTTGGACGCAGTGTTGGAGGTGCCGGTGCCTGTGCGTTTCCTCTTCCTGCTGCTGGGCCCGAGTAGTGCCAACATGGACTACCACGAGATCGGCCGCTCCATCTCCACCCTCATGTCAGACAAGGTCAGCTACCCTCCTCCTCTGGGCCCTGCTTCCTGGAGCCCATCCTAGGCCAGTCTTGATCCCCATGACTGCCTCCCACCCACTGGCCTTGCCCACCCTCAGCTCCAGGCCCTCAGCCCTCTTCTTTGTGCTCTCCCCCATCCCCATGCTGCTTTGGCAGCAATTCCACGAGGCAGCCTACCTGGCTGACGAGCGGGAGGACCTGCTGACGGCCATCAACGCCTTCCTGGACTGCAGCGTGGTGCTGCCGCCTTCAGAAGTGCAGGGCGAGGAGCTGCTGCGCTCTGTGGCCCACTTCCAGCGCCAGATGCTCAAGAAGCGAGAGGAGCAGGGCCGGCTGCTACCTACAGGGGCTGGGCTGGAGCCCAAATCTGCCCAAGATAAGGGTACGGCCAGGGCGGGCTGGGGCCAGGGCTGCCTCGAGGGGGTGAGGTGGGCAAGAGGGGCTGGGGCGCCCTGACGGAGGCCTGGGTTGCAGCGCTCCTGCAGATGGTAGAGGCGGCAGGGGCAGCTGAAGATGATCCCCTTCGGCGGACGGGGCGGCCCTTTGGGGGGCTGATCCGAGATGTGCGGCGCCGCTATCCCCACTACCTGAGTGACTTCCGAGATGCACTTGACCCTCAGTGCCTGGCCGCAGTCATCTTCATCTACTTTGCCGCCCTGTCTCCTGCCATCACCTTTGGGGGGCTGCTGGGTGAGGAGAGCCTTCAGGTAGGGGGCGGCGGGGACTGCCCAGGGCCTGGCCACCAGCTCCTGAGCTGGTTCCTACACCCCTAGGAGAGAAGACGCAGGACCTGATAGGGGTGTCGGAGCTGATTATGTCCACAGCGCTCCAGGGCGTGGTCTTCTGCCTGCTGGGTGCCCAGCCCCTGTTGGTGATCGGCTTCTCAGGGCCCCTGCTGGTCTTTGAGGAGGCCTTCTTCTCGGTGAGGGCTCTTCTCGCCCATCTCCAGCCGCCCCTCCCGTGCCCTAGACACCTCCCCACAGCATCCCCACCCAGAGCTCAGGACCTGACTGCCCCTCCCTCCAGTTCTGTAGCAGCAACCACCTGGAGTACCTGGTGGGCCGTGTGTGGATCGGCTTCTGGCTGGTGTTCCTGGCCCTGCTCATGGTGGCCCTGGAGGGGAGCTTCCTGGTCCGCTTCGTCTCCCGCTTCACCCAGGAGATCTTCGCCTTCTTGATCTCACTCATCTTCATCTATGAGACCTTCTACAAGCTGGTGAAGGTGGGCAGGCCCCTGCCGAGAGCTGGGCCAGGAGGGCCGAGGTCTCAGGGCTGGAGGGAGTCTCTTGGTCCCATCCTCTGGATTTGAGGCCAGGCTGGTCTGGAGCATCCCCGGGGCTTGTTGCCAACACGTATACCAGGGCTGCAGATTACTCTTTTAATTAATTAATTAATTTGAGACATTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGACCTTGGCTCCCCGCAACTTCTGCCTCCTGGGTTCAAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGTGTGCACCGCTATACCTGGCTAATTTTTGTAATTTTAGTAGAGACGGGTTTCACCGTATTGGTGAGGCTTGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATCACAGGATTTAGCCACCACACCTGGCCTTAATTTATTTTCAAACAGCAACTCGAACTAGACAGATCAATCTTTCAAAAACTCATACTTTTATTTCTTTTTTTTTTTTTTTGAGACAGAGTGTTGCTTTGTCACCCAGGCTGGAGTGCAGTTTTGGTGCAATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTGAAGTGTTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACGCCACCATGCCCGGCTAAATTTTTTGTATTTTTTTAGTAGAGATGGGGGTTTTACCATGT
AGCCTCCCAAAATGTTGGGAATACAGGCATGAGCCACTGTGCCTGGCTTAAAATTAAATTAAAAAAAAAAAAGTAAACGAAGCAGCTGCTGGGCGCGGTGGCTCATGCCTATAATCCCAGCACCTTGGGAGGCTGAGGTGGGTGGATTACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAATCCCATCTCTACTAAAAATACAAAAAATTAGCGGGGCACGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGGTAGAGCTTGCAGTGAGCCAAGATCATGCCATTGCGCTCCAGCCTGAACGACAGAGCGAGACTCTTATCACCAAAAAAAAAAAAAAAAAAAGCAGCTGAGGACCTAGAAACCGGCTTTTAGAATTGTTTCCCAACTAGGAGTCCATAGGCCGTGAGTGAGGCTCAGGGTCTTTGGGTAAAGGGCCGCCGTGGAAGGGCTTTCTCACTGGGCGTTGTGGTCTCCAGCCTGGCTGCTCAGGGGTGTTTGGTTCTGTTTATTCTTTAGTCTTTGTTCCTGAAAGTTGGCCTTGCCAGATGAATGACCTGGTAACTTTTGAAGGGACTGTTATTTCTGTGTGCAATGGCGAGGGGAGGTTGAGAAGCCGACAAGGAAGTCAAGAAGCTTGGGGCGGAGGGGGGTCTTCAGATGGCTCCAGGGTGGCCACACGGACGAGGCTGCAGACCAGCTGAGTTGTGTATCAGGGTAGAACTAGGCCCCTAGAGTGACACAGCACCTGGCTCACTTAGAGGAGAGTTTTCTAACAGCCAAGAGGGTTCAGCCAGAGTGGGCGGCCTGGACCGTCCCCATGGAGGCCGGATGCTTCCTGGAAGGGGTGTCTGACAGGCGTGGCCTAGATGGCCTCTCTGGTCACTGAGGTTCAGTAGTCTCTGTGGAGCCTCATAACGTTCCTGGGGGTCTGGGGGAGGGGAGGAACCAGAGGGTTGATGTGACGTAGGCTCCTGTGGGAGCCAGAACTCGAGCCCGCGTCCTTCATGTGTAGGCTGGTGTTCCAGCCCCGGCACCCACCCACCTGTCCCCAGCTCCTGCTCCCCATCCCATCTCCTGCCACTGTTTTGTGACCTGGGGCTGAGGGGCCCTCTGTGCCATCTTATGCTAGGGGCTGTGCTCTTGGATCTGGACCAGCAGACCCTGCCCGGAGTGGCCCACCAGGTGGTGGAGCAGATGGTCATCTCTGACCAGATCAAGGCCGAGGACAGGGCCAACGTGCTGCGGGCTCTGCTGTTGAAACACAGGTGAGGCCCTGTGGGCCAGTTGGGGATGACACTTCAGCCCACCTGCCCTGGCCCTTGTCATTGACCCTCCTTTGCCTCACTGCCCTCTGCCCCACCAGCCACCCAAGTGATGAGAAGGACTTCTCCTTCCCCCGCAACATCTCAGCTGGCTCCCTGGGCTCCCTGCTGGGGCATCACCATGGTCAGGGGGCTGAGAGTGACCCCCACGTCACCGAGCCTCTCATGGGAGGTGTTCCTGAGACCCGGCTGGAGGTGGAGCGAGAGGTGAGGGGAGAACCAGCCCTGCCTGGGCTGGCGGCAGGGCTGAGGAAGCCTGGGTGTGGACTCAGAGTGGGAGGGGCCTGGCTGGGCTGAGCCCTGTCTGTGTCCCCCAGCGTGAGCTGCCGCCTCCAGCACCACCAGCTGGCATCACCCGCTCCAAGTCCAAGCACGAGCTGAAACTGCTGGAGAAGATTCCTGAGAATGCCGAGGCCACGGTGGTCCTTGTGGGTATGTGGGGCAGGTCACATGTAGGGGGCTTGGTGGCCAGGCCTTGAGGCAGAGTCCTGTAGTCTCCCTGGCCCTGCCTTGGTGCCACCCTGGGCGAGGGACTGGAAGGCGGTCCTGCTGCTCTGCTCTTGCCCACGATGGTCCCACGCCCCTAGGCTGCGTGGAGTTCCTCTCCCGCCCCACCATGGCCTTTGTGCGGCTCCGGGAGGCTGTGGAGTTGGACGCAGTGTTGGAGGTGCCGGTGCCTGCGCGTTTCCTCTTCCTGCTGCTGGGCCCGAGTAGTGCCAACATGGACTACCACGAGATCGGCCGCTCCATCTCCACCCTCATGTCAGACAAGGTCAGCTACCCTCCTCCTCTGGGCCCTGCTTCCTGGAGCCCATCCTAGGCCAGTCTTGATCCCCATGACTGCCTCCCACCCACTGGCCTTGCCCACCCTCAGCTCCAGGCCCTCAGCCCTCTTCTTTGTGCTCTCCCCCATCCCCATGCTGCTTTGGCAGCAATTCCACGAGGCAGCCTACCTGGCTGACGAGCGGGAGGACCTGCTGACGGCCATCAACGCCTTCCTGGACTGCAGCGTGGTGCTGCCGCCTTCAGAAGTGCAGGGCGAGGAGCTGCTGCGCTCTGTGGCCCACTTCCAGCGCCAGATGCTCAAGAAGCGAGAGGAGCAGGGCCGGCTGCTACCTACAGGGGCTGGGCTGGAGCCCAAATCTGCCCAAGATAAGGGTACGGCCAGGGCGGGCTGGGGCCAGGGCTGCCTCGAGGGGGTGAGGTGGGCAAGAGGGGCTGGGGCGCCCTGACGGAGGCCTGGGTTGCAGCGCTCCTGCAGATGGTAGAGGCGGCAGGGGCAGCTGAAGATGATCCCCTTCGGCGGACGGGGCGGCCCTTTGGGGGGCTGATCCGAGATGTGCGGCGCCGCTATCCCCACTACCTGAGTGACTTCCGAGATGCACTTGACCCTCAGTGCCTGGCCGCAGTCATCTTCATCTACTTTGCCGCCCTGTCTCCTGCCATCACCTTTGGGGGGCTGCTGGGTGAGGAGAGCCTTCAGGTAGGGGGCGGCGGGGACTGCCCAGGGCCTGGCCACCAGCTCCTGAGCTGGTTCCTACACCCCTAGGAGAGAAGACGCAGGACCTGATAGGGGTGTCGGAGCTGATTATGTCCACAGCGCTCCAGGGCGTGGTCTTCTGCCTGCTGGGTGCCCAGCCCCTGTTGGTGATCGGCTTCTCAGGGCCCCTGCTGGTCTTTGAGGAGGCCTTCTTCTCGGTGAGGGCTCTTCTCGCCCATCTCCAGCCGCCCCTCCCGTGCCCTAGACACCTCCCCACAGCATCCCCACCCAGAGCTCAGGACCTGACTGCCCCTCCCTCCAGTTCTGTAGCAGCAACCACCTGGAGTACCTGGTGGGCCGTGTGTGGATCGGCTTCTGGCTGGTGTTCCTGGCCCTGCTCATGGTGGCCCTGGAGGGGAGCTTCCTGGTCCGCTTCGTCTCCCGCTTCACCCAGGAGATCTTCGCCTTCTTGATCTCACTCATCTTCATCTATGAGACCTTCTACAAGCTGGTGAAGGTGGGCAGGCCCCTGCCGAGAGCTGGGCCAGGAGGGCCGAGGTCTCAGGGCTGGAGGGAGTCTCTTGGTCCCATCCTCTGGATTTGAGGCCAGGCTGGTCTGGAGCATCCCCGGGGCTTGTTGCCAACACGTATACCAGGGCTGCAGATTACTCTTTTAATTAATTAATTAATTTGAGACATTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGACCTTGGCTCCCCGCAACTTCTGCCTCCTGGGTTCAAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGTGTGCACCGCTATACCTGGCTAATTTTTGTAATTTTAGTAGAGACGGGTTTCACCGTATTGGTGAGGCTTGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATCACAGGATTTAGCCACCACACCTGGCCTTAATTTATTTTCAAACAGCAACTCGAACTAGACAGATCAATCTTTCAAAAACTCATACTTTTATTTCTTTTTTTTTTTTTTTGAGACAGAGTGTTGCTTTGTCACCCAGGCTGGAGTGCAGTTTTGGTGCAATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTGAAGTGTTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACGCCACCATGCCCGGCTAAATTTTTTGTATTTTTTTAGTAGAGATGGGGGTTTTACCATGT
Task1_train_12493
Assess the clinical impact of this variant on gene RHEB (Ras homolog, mTORC1 binding), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; not provided
ATACACAACTCCATGACTTTCCTTCCAACTCAGTTTTTACTTTTGAGACCACATCTTGCTCTGCTGCCCAGGCTGGAGTACAGTGACATGATTACAGATCACTGCAGCCTCAAACTCCTGGGTTCAAGTGATCCGCCTGTCTCAGCTGAGACTACAGGCACACACCATCACGCCCAGCTAATTCCAGCTCAGTATGAAATGGCATGAGGATACAGCCACAATATCCACTTTTAGAGGCAGAGCTTACGAAGAAAACAATCTTCTATTGTTCTGTTAATACAATTCCAAAATGAACCTTATTATTTCAAGGATCTAAAATCCTAAATTGCTTTGTATAGCAAATATTAAGGTCCAAGATGATGATTTTCTTATGTTCTTATTCCAGTGGACAGAAAACCGAGCTTGTTCATCCAGCACTCACATTAATCTGCTCCTCACACTTGCTTACTATTATATAATGACCAGCTAGACAAATCATAGGATGTAATCAGGACTCCTCCCTGTAGATACCCAGAGGTTACTTTCAAATATAACATCTTGAAAGGTTACTTTCAAAAATATTCCTGGAGTTAGTTTATCAACCAACAGGTTTCCTTCTCTGCTACCAGCACACTGGAACACAAAGGACAGCCAAATATTTTAAGCGAGGGGTGAGCAAACTTTTTCTGTAAAGGGCCAGACAGTACCAGTAAATATTTTAGGCTTTGTAGGCCACCTGGTCTCTGCTCTTACTATTCAACAACTCTGCCATTGTACAGCATGTAAAGGACAACATGTAAAGGAACAAGCATGGCTGTGTATCAATAAAACTTTATAGAGGTTAACATTTGAATTTCATATAATTTTCACATGCCAGACATTATTCTTCTTTGGACTTTTATATATTATGCTTAAATGGAAAAACCTTTCTTAGCTCTTGGTCTGTATAAAGACAGGAAATGGGCCTTGCTGGCCTGCAGGCTGTCGTTTGCCAAGCTCTTTACTGTCAGCCAAAGCATTCAAGTGATTCTCTTGCAAGCCTCCGGCCGGTGAAATATGCTTCGTGTCTAATATGCCAATCAGGTGTTGATGAATCCCATGTTTAAATCTACATGTTCCTGGTGACAAATCCTAGATAAGTCCTGGTCTCAAGAATCTGAGAAACCTAGTTCCAGGGCCCACCTGGGGTTCTAAGCCTGAAAAGACCAGCTTCCCTGCTTCAGATTATCCTTGGCGATCCCTAGAATCAAGATCTGTCTCAAAGCTGGGCACAGTGTTGTATGCCTGTAGTTCCAGCCACCTGGGAGGCTGAGGAAAGAGGATCACTTGAGTCCAGGATATTGAGTCCAGCCTGGGTAACACTGTGAGACTCATGTCTCTTTAAAAAATAAAATAAAATAAATAAATAGTCTCATGGTCCTAGAATCCATCAGGAATATTCTGAAACCATGGATTAAAATTGAACAAAGTAAAGGTCATGGCTGGTTCTGTCTTCCCTGCTTTTTTCTGCACATGGCCTAAAATGTCAACAGGCTTTTTGAGCCAACTTCTTTTTAATGCTGCAACTGCTCTATCCAATCCCAGAATAGTTCATTTCTCTTTCAAATCTTTAGGGCTGGAAAGAAGGGTATAGAGAAATGTGGGTGGGAGTACGGCTTCTGTAAGAATAAGGAACAGGGATCTCGAGTGTTTTTCATTCTTTCAAGCTTGGAATCCCTGGAAACTGCAATGGCTGGGAGAAAGGGGGTGTGGGGGAGAAGACTGTGCTCTCCATTCCTGTTTTGGAGCAGATTCTGGAATTTGAAGATTCCAGTAATGGGCCAGACTCCTACTGACTTGAATTAATAATTTCTAGATGGCAGGGGATGCAGACATGGAAGGAAAAATCTTTCAGGGTAAAGTAGGTAAATCTTTTGCAAGTTTTCTTTGACCCCAATTGGGAGACACACAGAATTTACCTCCTGCACTCAAAGCCTCCATGAATACACAATGGCTATTTTACACAAAAGAAGGCTTCTCAGTTTTTAAGTACTTGAAAACAATACTTACTGTTTTCTATGGTTGGATCGTAGGAGTCCACAAATTGGCCTTCAACAAATTGAATCGTCAATGAGGATTTCCCTATAAAAGAGAACAAGAGCTTAGTGTGTGTTGGCATATGAAGGTAAAAATTTTTAATTTTGCTGTTTTATTAAAAAACCATTAATAGATGAAGACACTGAAGGTATCAGGGTCAGAAAACATTCATTTAATTAGCATGTGAGCAATTTCAAAAAATGAAATAAATTTCATTAATTTGCTTTATATGAGGATATTATGCAATTAAGCTATTACAAAGTAAACATGTCTGTGACATTAACAAATATTACTGACCAACAAGCACATCAGATATTCTGTTAAAGATAATCTAAAAGGTTTAAAGTAAGCTAATTTCCTCTAGTATTCTTGGAATCTTGCTATTTAATTTTAATATGAAAATTAAAATGATTAGTTTCGTTGTATTCATTCATATATGACGGTTAGAAGTGTTACCAAGTACAGCTTTTAAAAAGAGTAATCCGGCCAGGCACCATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGACGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAATCCCGTCTCTACTAAAATTAACAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGATAATAGAATTGCTTGCCCCCAGGAGGCAGAGGCTGCAGTGGGCCAAGATTGCACCACTGCACTCAAGCCTGGGCGACAGAGCAAGACCCTGTGTCAAAAAAAAAAAAAGGGTAATCTGAAAATATGTAACATAAGTCTTTATCTTAAAAACTCCTTTGAAGCTAGAAATCCTATGTCATTCAGTATGAAAGGCCTAGCAGTATCTAGAAATTAAGAAATGTTATGGATTTCACAAAATCGCCAATAATTGAACTTGTATGTTAATAAATCAACAACTAGAGCCTTAGCTTCTCACTCTTCTGCTACCTAAAATGTCTACTGGAGGACTTTAGAACAGGGTACATGCCCTGTGAAGAAATCGCATGAGATGCATAGTTCAGATGACTTTATCACCAGGAATGAGGAAGTGGTCTCTCCCTAATTTCACCTCCAAACCCTTCCTTCTCTCTTGCATCCTTGGAGCATTATTACACACATGCTGTATATGCCTGGCATACTTAACTCCATCACAACAGGACGTGCAGTGAGAGTGAAGGAGAGGCATGGTAACACCCATCTTACACTACTGGGTTTAATTTATGCTTGTTTCTCCTCCAAACTATGGATAGGTATAGTTGCACAATGTTTTCACACCAAAGGCATTCCTTAAAATTTAAATTATTAAAAAGTTGGCTTAAAAGTAGTGGTTGCTGGCCGGGTGTGGTGGCTCATGCTTGTAATTCCAGCACTTTGGGAGGCTGAAGCGGGTGGATCACCTGAGGTCTGGAGTTCGAGACCAGCCTGGCCAACATGGTTGGTCCTGTCTCTACTAAAAATACAAAAAAAGTTACCCAAGCGTGGTGATGGGCACCTGCGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATAGTTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATGGCGCCACTGCACTCCACTCTGGGCAACAGAGTGAGACTCTGTCTTATAAAAAAAAAAAAAGAAAAAAAGTAGGGGTTGCTGAGAAGGAAAGGCCACAAGTTGGTAGACCTATTTACTCCTTATCCGCAGCCCAATACAGTTCAAAATGTCTCTAGAATTACTAATACCTGAAATTATTCTCTACAAAGCAACCTACATGAGCATTTGAAAATTAAACGCTACTTCTCTGCTTCCAATCCTCATTGCAATTAGAATAAATTCTCAACATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTGAGGCGATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGGATTACAGGCACGCGCCACCACACCTGACTAATTTT
ATACACAACTCCATGACTTTCCTTCCAACTCAGTTTTTACTTTTGAGACCACATCTTGCTCTGCTGCCCAGGCTGGAGTACAGTGACATGATTACAGATCACTGCAGCCTCAAACTCCTGGGTTCAAGTGATCCGCCTGTCTCAGCTGAGACTACAGGCACACACCATCACGCCCAGCTAATTCCAGCTCAGTATGAAATGGCATGAGGATACAGCCACAATATCCACTTTTAGAGGCAGAGCTTACGAAGAAAACAATCTTCTATTGTTCTGTTAATACAATTCCAAAATGAACCTTATTATTTCAAGGATCTAAAATCCTAAATTGCTTTGTATAGCAAATATTAAGGTCCAAGATGATGATTTTCTTATGTTCTTATTCCAGTGGACAGAAAACCGAGCTTGTTCATCCAGCACTCACATTAATCTGCTCCTCACACTTGCTTACTATTATATAATGACCAGCTAGACAAATCATAGGATGTAATCAGGACTCCTCCCTGTAGATACCCAGAGGTTACTTTCAAATATAACATCTTGAAAGGTTACTTTCAAAAATATTCCTGGAGTTAGTTTATCAACCAACAGGTTTCCTTCTCTGCTACCAGCACACTGGAACACAAAGGACAGCCAAATATTTTAAGCGAGGGGTGAGCAAACTTTTTCTGTAAAGGGCCAGACAGTACCAGTAAATATTTTAGGCTTTGTAGGCCACCTGGTCTCTGCTCTTACTATTCAACAACTCTGCCATTGTACAGCATGTAAAGGACAACATGTAAAGGAACAAGCATGGCTGTGTATCAATAAAACTTTATAGAGGTTAACATTTGAATTTCATATAATTTTCACATGCCAGACATTATTCTTCTTTGGACTTTTATATATTATGCTTAAATGGAAAAACCTTTCTTAGCTCTTGGTCTGTATAAAGACAGGAAATGGGCCTTGCTGGCCTGCAGGCTGTCGTTTGCCAAGCTCTTTACTGTCAGCCAAAGCATTCAAGTGATTCTCTTGCAAGCCTCCGGCCGGTGAAATATGCTTCGTGTCTAATATGCCAATCAGGTGTTGATGAATCCCATGTTTAAATCTACATGTTCCTGGTGACAAATCCTAGATAAGTCCTGGTCTCAAGAATCTGAGAAACCTAGTTCCAGGGCCCACCTGGGGTTCTAAGCCTGAAAAGACCAGCTTCCCTGCTTCAGATTATCCTTGGCGATCCCTAGAATCAAGATCTGTCTCAAAGCTGGGCACAGTGTTGTATGCCTGTAGTTCCAGCCACCTGGGAGGCTGAGGAAAGAGGATCACTTGAGTCCAGGATATTGAGTCCAGCCTGGGTAACACTGTGAGACTCATGTCTCTTTAAAAAATAAAATAAAATAAATAAATAGTCTCATGGTCCTAGAATCCATCAGGAATATTCTGAAACCATGGATTAAAATTGAACAAAGTAAAGGTCATGGCTGGTTCTGTCTTCCCTGCTTTTTTCTGCACATGGCCTAAAATGTCAACAGGCTTTTTGAGCCAACTTCTTTTTAATGCTGCAACTGCTCTATCCAATCCCAGAATAGTTCATTTCTCTTTCAAATCTTTAGGGCTGGAAAGAAGGGTATAGAGAAATGTGGGTGGGAGTACGGCTTCTGTAAGAATAAGGAACAGGGATCTCGAGTGTTTTTCATTCTTTCAAGCTTGGAATCCCTGGAAACTGCAATGGCTGGGAGAAAGGGGGTGTGGGGGAGAAGACTGTGCTCTCCATTCCTGTTTTGGAGCAGATTCTGGAATTTGAAGATTCCAGTAATGGGCCAGACTCCTACTGACTTGAATTAATAATTTCTAGATGGCAGGGGATGCAGACATGGAAGGAAAAATCTTTCAGGGTAAAGTAGGTAAATCTTTTGCAAGTTTTCTTTGACCCCAATTGGGAGACACACAGAATTTACCTCCTGCACTCAAAGCCTCCATGAATACACAATGGCTATTTTACACAAAAGAAGGCTTCTCAGTTTTTAAGTACTTGAAAACAATACTTACTGTTTTCTATGGTTGGATCGCAGGAGTCCACAAATTGGCCTTCAACAAATTGAATCGTCAATGAGGATTTCCCTATAAAAGAGAACAAGAGCTTAGTGTGTGTTGGCATATGAAGGTAAAAATTTTTAATTTTGCTGTTTTATTAAAAAACCATTAATAGATGAAGACACTGAAGGTATCAGGGTCAGAAAACATTCATTTAATTAGCATGTGAGCAATTTCAAAAAATGAAATAAATTTCATTAATTTGCTTTATATGAGGATATTATGCAATTAAGCTATTACAAAGTAAACATGTCTGTGACATTAACAAATATTACTGACCAACAAGCACATCAGATATTCTGTTAAAGATAATCTAAAAGGTTTAAAGTAAGCTAATTTCCTCTAGTATTCTTGGAATCTTGCTATTTAATTTTAATATGAAAATTAAAATGATTAGTTTCGTTGTATTCATTCATATATGACGGTTAGAAGTGTTACCAAGTACAGCTTTTAAAAAGAGTAATCCGGCCAGGCACCATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGACGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAATCCCGTCTCTACTAAAATTAACAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGATAATAGAATTGCTTGCCCCCAGGAGGCAGAGGCTGCAGTGGGCCAAGATTGCACCACTGCACTCAAGCCTGGGCGACAGAGCAAGACCCTGTGTCAAAAAAAAAAAAAGGGTAATCTGAAAATATGTAACATAAGTCTTTATCTTAAAAACTCCTTTGAAGCTAGAAATCCTATGTCATTCAGTATGAAAGGCCTAGCAGTATCTAGAAATTAAGAAATGTTATGGATTTCACAAAATCGCCAATAATTGAACTTGTATGTTAATAAATCAACAACTAGAGCCTTAGCTTCTCACTCTTCTGCTACCTAAAATGTCTACTGGAGGACTTTAGAACAGGGTACATGCCCTGTGAAGAAATCGCATGAGATGCATAGTTCAGATGACTTTATCACCAGGAATGAGGAAGTGGTCTCTCCCTAATTTCACCTCCAAACCCTTCCTTCTCTCTTGCATCCTTGGAGCATTATTACACACATGCTGTATATGCCTGGCATACTTAACTCCATCACAACAGGACGTGCAGTGAGAGTGAAGGAGAGGCATGGTAACACCCATCTTACACTACTGGGTTTAATTTATGCTTGTTTCTCCTCCAAACTATGGATAGGTATAGTTGCACAATGTTTTCACACCAAAGGCATTCCTTAAAATTTAAATTATTAAAAAGTTGGCTTAAAAGTAGTGGTTGCTGGCCGGGTGTGGTGGCTCATGCTTGTAATTCCAGCACTTTGGGAGGCTGAAGCGGGTGGATCACCTGAGGTCTGGAGTTCGAGACCAGCCTGGCCAACATGGTTGGTCCTGTCTCTACTAAAAATACAAAAAAAGTTACCCAAGCGTGGTGATGGGCACCTGCGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATAGTTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATGGCGCCACTGCACTCCACTCTGGGCAACAGAGTGAGACTCTGTCTTATAAAAAAAAAAAAAGAAAAAAAGTAGGGGTTGCTGAGAAGGAAAGGCCACAAGTTGGTAGACCTATTTACTCCTTATCCGCAGCCCAATACAGTTCAAAATGTCTCTAGAATTACTAATACCTGAAATTATTCTCTACAAAGCAACCTACATGAGCATTTGAAAATTAAACGCTACTTCTCTGCTTCCAATCCTCATTGCAATTAGAATAAATTCTCAACATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTGAGGCGATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGGATTACAGGCACGCGCCACCACACCTGACTAATTTT
Task1_train_12494
The gene RHEB (Ras homolog, mTORC1 binding), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
ATACACAACTCCATGACTTTCCTTCCAACTCAGTTTTTACTTTTGAGACCACATCTTGCTCTGCTGCCCAGGCTGGAGTACAGTGACATGATTACAGATCACTGCAGCCTCAAACTCCTGGGTTCAAGTGATCCGCCTGTCTCAGCTGAGACTACAGGCACACACCATCACGCCCAGCTAATTCCAGCTCAGTATGAAATGGCATGAGGATACAGCCACAATATCCACTTTTAGAGGCAGAGCTTACGAAGAAAACAATCTTCTATTGTTCTGTTAATACAATTCCAAAATGAACCTTATTATTTCAAGGATCTAAAATCCTAAATTGCTTTGTATAGCAAATATTAAGGTCCAAGATGATGATTTTCTTATGTTCTTATTCCAGTGGACAGAAAACCGAGCTTGTTCATCCAGCACTCACATTAATCTGCTCCTCACACTTGCTTACTATTATATAATGACCAGCTAGACAAATCATAGGATGTAATCAGGACTCCTCCCTGTAGATACCCAGAGGTTACTTTCAAATATAACATCTTGAAAGGTTACTTTCAAAAATATTCCTGGAGTTAGTTTATCAACCAACAGGTTTCCTTCTCTGCTACCAGCACACTGGAACACAAAGGACAGCCAAATATTTTAAGCGAGGGGTGAGCAAACTTTTTCTGTAAAGGGCCAGACAGTACCAGTAAATATTTTAGGCTTTGTAGGCCACCTGGTCTCTGCTCTTACTATTCAACAACTCTGCCATTGTACAGCATGTAAAGGACAACATGTAAAGGAACAAGCATGGCTGTGTATCAATAAAACTTTATAGAGGTTAACATTTGAATTTCATATAATTTTCACATGCCAGACATTATTCTTCTTTGGACTTTTATATATTATGCTTAAATGGAAAAACCTTTCTTAGCTCTTGGTCTGTATAAAGACAGGAAATGGGCCTTGCTGGCCTGCAGGCTGTCGTTTGCCAAGCTCTTTACTGTCAGCCAAAGCATTCAAGTGATTCTCTTGCAAGCCTCCGGCCGGTGAAATATGCTTCGTGTCTAATATGCCAATCAGGTGTTGATGAATCCCATGTTTAAATCTACATGTTCCTGGTGACAAATCCTAGATAAGTCCTGGTCTCAAGAATCTGAGAAACCTAGTTCCAGGGCCCACCTGGGGTTCTAAGCCTGAAAAGACCAGCTTCCCTGCTTCAGATTATCCTTGGCGATCCCTAGAATCAAGATCTGTCTCAAAGCTGGGCACAGTGTTGTATGCCTGTAGTTCCAGCCACCTGGGAGGCTGAGGAAAGAGGATCACTTGAGTCCAGGATATTGAGTCCAGCCTGGGTAACACTGTGAGACTCATGTCTCTTTAAAAAATAAAATAAAATAAATAAATAGTCTCATGGTCCTAGAATCCATCAGGAATATTCTGAAACCATGGATTAAAATTGAACAAAGTAAAGGTCATGGCTGGTTCTGTCTTCCCTGCTTTTTTCTGCACATGGCCTAAAATGTCAACAGGCTTTTTGAGCCAACTTCTTTTTAATGCTGCAACTGCTCTATCCAATCCCAGAATAGTTCATTTCTCTTTCAAATCTTTAGGGCTGGAAAGAAGGGTATAGAGAAATGTGGGTGGGAGTACGGCTTCTGTAAGAATAAGGAACAGGGATCTCGAGTGTTTTTCATTCTTTCAAGCTTGGAATCCCTGGAAACTGCAATGGCTGGGAGAAAGGGGGTGTGGGGGAGAAGACTGTGCTCTCCATTCCTGTTTTGGAGCAGATTCTGGAATTTGAAGATTCCAGTAATGGGCCAGACTCCTACTGACTTGAATTAATAATTTCTAGATGGCAGGGGATGCAGACATGGAAGGAAAAATCTTTCAGGGTAAAGTAGGTAAATCTTTTGCAAGTTTTCTTTGACCCCAATTGGGAGACACACAGAATTTACCTCCTGCACTCAAAGCCTCCATGAATACACAATGGCTATTTTACACAAAAGAAGGCTTCTCAGTTTTTAAGTACTTGAAAACAATACTTACTGTTTTCTATGGTTGGATCGTAGGAGTCCACAAATTGGCCTTCAACAAATTGAATCGTCAATGAGGATTTCCCTATAAAAGAGAACAAGAGCTTAGTGTGTGTTGGCATATGAAGGTAAAAATTTTTAATTTTGCTGTTTTATTAAAAAACCATTAATAGATGAAGACACTGAAGGTATCAGGGTCAGAAAACATTCATTTAATTAGCATGTGAGCAATTTCAAAAAATGAAATAAATTTCATTAATTTGCTTTATATGAGGATATTATGCAATTAAGCTATTACAAAGTAAACATGTCTGTGACATTAACAAATATTACTGACCAACAAGCACATCAGATATTCTGTTAAAGATAATCTAAAAGGTTTAAAGTAAGCTAATTTCCTCTAGTATTCTTGGAATCTTGCTATTTAATTTTAATATGAAAATTAAAATGATTAGTTTCGTTGTATTCATTCATATATGACGGTTAGAAGTGTTACCAAGTACAGCTTTTAAAAAGAGTAATCCGGCCAGGCACCATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGACGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAATCCCGTCTCTACTAAAATTAACAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGATAATAGAATTGCTTGCCCCCAGGAGGCAGAGGCTGCAGTGGGCCAAGATTGCACCACTGCACTCAAGCCTGGGCGACAGAGCAAGACCCTGTGTCAAAAAAAAAAAAAGGGTAATCTGAAAATATGTAACATAAGTCTTTATCTTAAAAACTCCTTTGAAGCTAGAAATCCTATGTCATTCAGTATGAAAGGCCTAGCAGTATCTAGAAATTAAGAAATGTTATGGATTTCACAAAATCGCCAATAATTGAACTTGTATGTTAATAAATCAACAACTAGAGCCTTAGCTTCTCACTCTTCTGCTACCTAAAATGTCTACTGGAGGACTTTAGAACAGGGTACATGCCCTGTGAAGAAATCGCATGAGATGCATAGTTCAGATGACTTTATCACCAGGAATGAGGAAGTGGTCTCTCCCTAATTTCACCTCCAAACCCTTCCTTCTCTCTTGCATCCTTGGAGCATTATTACACACATGCTGTATATGCCTGGCATACTTAACTCCATCACAACAGGACGTGCAGTGAGAGTGAAGGAGAGGCATGGTAACACCCATCTTACACTACTGGGTTTAATTTATGCTTGTTTCTCCTCCAAACTATGGATAGGTATAGTTGCACAATGTTTTCACACCAAAGGCATTCCTTAAAATTTAAATTATTAAAAAGTTGGCTTAAAAGTAGTGGTTGCTGGCCGGGTGTGGTGGCTCATGCTTGTAATTCCAGCACTTTGGGAGGCTGAAGCGGGTGGATCACCTGAGGTCTGGAGTTCGAGACCAGCCTGGCCAACATGGTTGGTCCTGTCTCTACTAAAAATACAAAAAAAGTTACCCAAGCGTGGTGATGGGCACCTGCGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATAGTTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATGGCGCCACTGCACTCCACTCTGGGCAACAGAGTGAGACTCTGTCTTATAAAAAAAAAAAAAGAAAAAAAGTAGGGGTTGCTGAGAAGGAAAGGCCACAAGTTGGTAGACCTATTTACTCCTTATCCGCAGCCCAATACAGTTCAAAATGTCTCTAGAATTACTAATACCTGAAATTATTCTCTACAAAGCAACCTACATGAGCATTTGAAAATTAAACGCTACTTCTCTGCTTCCAATCCTCATTGCAATTAGAATAAATTCTCAACATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTGAGGCGATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGGATTACAGGCACGCGCCACCACACCTGACTAATTTT
ATACACAACTCCATGACTTTCCTTCCAACTCAGTTTTTACTTTTGAGACCACATCTTGCTCTGCTGCCCAGGCTGGAGTACAGTGACATGATTACAGATCACTGCAGCCTCAAACTCCTGGGTTCAAGTGATCCGCCTGTCTCAGCTGAGACTACAGGCACACACCATCACGCCCAGCTAATTCCAGCTCAGTATGAAATGGCATGAGGATACAGCCACAATATCCACTTTTAGAGGCAGAGCTTACGAAGAAAACAATCTTCTATTGTTCTGTTAATACAATTCCAAAATGAACCTTATTATTTCAAGGATCTAAAATCCTAAATTGCTTTGTATAGCAAATATTAAGGTCCAAGATGATGATTTTCTTATGTTCTTATTCCAGTGGACAGAAAACCGAGCTTGTTCATCCAGCACTCACATTAATCTGCTCCTCACACTTGCTTACTATTATATAATGACCAGCTAGACAAATCATAGGATGTAATCAGGACTCCTCCCTGTAGATACCCAGAGGTTACTTTCAAATATAACATCTTGAAAGGTTACTTTCAAAAATATTCCTGGAGTTAGTTTATCAACCAACAGGTTTCCTTCTCTGCTACCAGCACACTGGAACACAAAGGACAGCCAAATATTTTAAGCGAGGGGTGAGCAAACTTTTTCTGTAAAGGGCCAGACAGTACCAGTAAATATTTTAGGCTTTGTAGGCCACCTGGTCTCTGCTCTTACTATTCAACAACTCTGCCATTGTACAGCATGTAAAGGACAACATGTAAAGGAACAAGCATGGCTGTGTATCAATAAAACTTTATAGAGGTTAACATTTGAATTTCATATAATTTTCACATGCCAGACATTATTCTTCTTTGGACTTTTATATATTATGCTTAAATGGAAAAACCTTTCTTAGCTCTTGGTCTGTATAAAGACAGGAAATGGGCCTTGCTGGCCTGCAGGCTGTCGTTTGCCAAGCTCTTTACTGTCAGCCAAAGCATTCAAGTGATTCTCTTGCAAGCCTCCGGCCGGTGAAATATGCTTCGTGTCTAATATGCCAATCAGGTGTTGATGAATCCCATGTTTAAATCTACATGTTCCTGGTGACAAATCCTAGATAAGTCCTGGTCTCAAGAATCTGAGAAACCTAGTTCCAGGGCCCACCTGGGGTTCTAAGCCTGAAAAGACCAGCTTCCCTGCTTCAGATTATCCTTGGCGATCCCTAGAATCAAGATCTGTCTCAAAGCTGGGCACAGTGTTGTATGCCTGTAGTTCCAGCCACCTGGGAGGCTGAGGAAAGAGGATCACTTGAGTCCAGGATATTGAGTCCAGCCTGGGTAACACTGTGAGACTCATGTCTCTTTAAAAAATAAAATAAAATAAATAAATAGTCTCATGGTCCTAGAATCCATCAGGAATATTCTGAAACCATGGATTAAAATTGAACAAAGTAAAGGTCATGGCTGGTTCTGTCTTCCCTGCTTTTTTCTGCACATGGCCTAAAATGTCAACAGGCTTTTTGAGCCAACTTCTTTTTAATGCTGCAACTGCTCTATCCAATCCCAGAATAGTTCATTTCTCTTTCAAATCTTTAGGGCTGGAAAGAAGGGTATAGAGAAATGTGGGTGGGAGTACGGCTTCTGTAAGAATAAGGAACAGGGATCTCGAGTGTTTTTCATTCTTTCAAGCTTGGAATCCCTGGAAACTGCAATGGCTGGGAGAAAGGGGGTGTGGGGGAGAAGACTGTGCTCTCCATTCCTGTTTTGGAGCAGATTCTGGAATTTGAAGATTCCAGTAATGGGCCAGACTCCTACTGACTTGAATTAATAATTTCTAGATGGCAGGGGATGCAGACATGGAAGGAAAAATCTTTCAGGGTAAAGTAGGTAAATCTTTTGCAAGTTTTCTTTGACCCCAATTGGGAGACACACAGAATTTACCTCCTGCACTCAAAGCCTCCATGAATACACAATGGCTATTTTACACAAAAGAAGGCTTCTCAGTTTTTAAGTACTTGAAAACAATACTTACTGTTTTCTATGGTTGGATCGGAGGAGTCCACAAATTGGCCTTCAACAAATTGAATCGTCAATGAGGATTTCCCTATAAAAGAGAACAAGAGCTTAGTGTGTGTTGGCATATGAAGGTAAAAATTTTTAATTTTGCTGTTTTATTAAAAAACCATTAATAGATGAAGACACTGAAGGTATCAGGGTCAGAAAACATTCATTTAATTAGCATGTGAGCAATTTCAAAAAATGAAATAAATTTCATTAATTTGCTTTATATGAGGATATTATGCAATTAAGCTATTACAAAGTAAACATGTCTGTGACATTAACAAATATTACTGACCAACAAGCACATCAGATATTCTGTTAAAGATAATCTAAAAGGTTTAAAGTAAGCTAATTTCCTCTAGTATTCTTGGAATCTTGCTATTTAATTTTAATATGAAAATTAAAATGATTAGTTTCGTTGTATTCATTCATATATGACGGTTAGAAGTGTTACCAAGTACAGCTTTTAAAAAGAGTAATCCGGCCAGGCACCATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGACGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAATCCCGTCTCTACTAAAATTAACAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGATAATAGAATTGCTTGCCCCCAGGAGGCAGAGGCTGCAGTGGGCCAAGATTGCACCACTGCACTCAAGCCTGGGCGACAGAGCAAGACCCTGTGTCAAAAAAAAAAAAAGGGTAATCTGAAAATATGTAACATAAGTCTTTATCTTAAAAACTCCTTTGAAGCTAGAAATCCTATGTCATTCAGTATGAAAGGCCTAGCAGTATCTAGAAATTAAGAAATGTTATGGATTTCACAAAATCGCCAATAATTGAACTTGTATGTTAATAAATCAACAACTAGAGCCTTAGCTTCTCACTCTTCTGCTACCTAAAATGTCTACTGGAGGACTTTAGAACAGGGTACATGCCCTGTGAAGAAATCGCATGAGATGCATAGTTCAGATGACTTTATCACCAGGAATGAGGAAGTGGTCTCTCCCTAATTTCACCTCCAAACCCTTCCTTCTCTCTTGCATCCTTGGAGCATTATTACACACATGCTGTATATGCCTGGCATACTTAACTCCATCACAACAGGACGTGCAGTGAGAGTGAAGGAGAGGCATGGTAACACCCATCTTACACTACTGGGTTTAATTTATGCTTGTTTCTCCTCCAAACTATGGATAGGTATAGTTGCACAATGTTTTCACACCAAAGGCATTCCTTAAAATTTAAATTATTAAAAAGTTGGCTTAAAAGTAGTGGTTGCTGGCCGGGTGTGGTGGCTCATGCTTGTAATTCCAGCACTTTGGGAGGCTGAAGCGGGTGGATCACCTGAGGTCTGGAGTTCGAGACCAGCCTGGCCAACATGGTTGGTCCTGTCTCTACTAAAAATACAAAAAAAGTTACCCAAGCGTGGTGATGGGCACCTGCGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATAGTTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATGGCGCCACTGCACTCCACTCTGGGCAACAGAGTGAGACTCTGTCTTATAAAAAAAAAAAAAGAAAAAAAGTAGGGGTTGCTGAGAAGGAAAGGCCACAAGTTGGTAGACCTATTTACTCCTTATCCGCAGCCCAATACAGTTCAAAATGTCTCTAGAATTACTAATACCTGAAATTATTCTCTACAAAGCAACCTACATGAGCATTTGAAAATTAAACGCTACTTCTCTGCTTCCAATCCTCATTGCAATTAGAATAAATTCTCAACATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTGAGGCGATTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGGATTACAGGCACGCGCCACCACACCTGACTAATTTT
Task1_train_12495
A mutation in PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Lethal congenital glycogen storage disease of heart
CTCCTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATGGTTTGAGATATCAAGAAACAGAGAGGATGAATCGCTTGACTTGTTTACTCTTTTTGTAATGCCCAAAGAGACAGACAAGAGCTGACATTCAGCCTGACCCGCTGGGCAGACTGTGTCCCGTGGTCCAGGGCTGGAAACGGGGCATCTTTTTCTGAAGGTGCCAAGCTATATACCTGTGGGGATAAATCTGCCCAGAGAAGAGGCCTTTTCTAGTTAGCACAAATGTGCTGTGCAGTTATGCCTGCCTGGAAATTTATATGAATTTAATGATGGTCTGGATGAGCCTGGCTCCCTCTGTTCAATGTTGCCTGTGAGATTCCTCCACTGTTGAATGCAGCTGTACTGTTCGTTTTCAATCCTGTATCGTATTCCATCGAATGAATGTGACACAATTTATCCATTCTTCTTTTCAAAGATATTTGGATTATTCCCAGTTTTATGGCATTAACATTCGTTTAGTTCTTAATGTTTCATGATTATAGAGACTATTGTGAGATTCAGGTCTTTTAAACACTTGAAGTTTGCAAGTGACTGCACCAGGCCCCATTTCTAGAGTTTCTGATTCAGTGGATATGGGACGGGGCCCCAACATGAACATTTCATTTTCTAGTAAATTCCAGGTGGTGGTGATGATGCCTGGCCTGAGGACCACCTCGGAAAAATCACTGCTGTACTGGAATTTCTCTTGGTGTTCTCATTTAGCGAATAAGACATGTTTCTTGCAGGTGGTGAAGATTCCTTTAGGGTAGGTATTTTTGGGTTACAGACTTAATTGTAAAAACTAGTCTTAACTGAAATTTCTGAACTAAAGAGAAATCAATACTGTAGCACACACACCGTTTAATATTGGATTCTGAGAGTTCAAAGGGCATGCTGTTTGCTCCCACATCGGGTCCATGTGGCCCTGACAAAGGCTGGGTTGTTCATATTTGACTGGGGCTGGGGAGGTGGAGGGATGGGAAGAGGAGGAGGGAAGGGAGGGCTGGCAGTTTTAAGAACTCTCAAGCCCACCTCTTACTACTGAGTGTGTGAAATGAGAGGAAGGCCAGCTCCTCTTGTCTAAAGCCCTCTCCCGTTCTCTCTGCTCCTCACTGTCTGAGACTCTGAAGGCTTGCTCAAAGTGAATCTGTCAAAAAATGAGTTTAACCACACTCTATCTGAAAGTGAATGTGATTTCTGTACAATATTAATGAATAAAAGTTTGTGTTTAGGTATTCTGTTTTATCTACTCAAAATATAAGTTTTTTTTCTCTTTAAGGAAAGATGAAGGTATCAAATAGAAGCCAGTGACGTTCCCTCTATGTTTCTGGTCACTAGTTCTCTCACAAAGCACAATTGAAGAGGTCTTTTCAGTGGAAAAGGTTATGATGAACATGGCAATGGCTCCCAAGTCATTTAGGGGGCCACTGGACCTTGATAGGATGCTCTTAACTTCGAATACGTTCTATACACTTTCCTCACTCACGCAGAACACTTAAACTTCCCAACTGAAGAGAAAACGAAAATGGTTTCAAAGTAATATACTCAAAGCCTTGATCTGTAGGTGGGTGGAGAAATGATGGTTTAAATGCTGCACTTCCTGTTCTACCTCCCACCCTTCCTAGACGCCGATGGCAAAGGTCAGAAACCAGCATTTTACCTGCTGGTGTGAGGATCAGGGCTTGCAGAATGTCCGACAGGGAAATAATACCCACAATACTATCTGCTTCATTTACCACCACCAGCCGATGGACCTGCAAAGAGAAAAGCAGGACACGTGAAAATTAACATTTAAAAAAGGTTTAAAATGGACATGAGAAATAATGTCCTGTCATGTTTTTATATGATCAACACATCCCTCCAGCCTGGGGAATAGCAGTGAGACATCATCTCTACAAAAACATTAGACAGTGGCTGGGTGTGCTGGTGTGCACCTGTGGTCCCAGTTACTTGGTGGGAGGATTGCTTGAGCCTGGGAAGTGGAGGTTGCAGTGGGCCAAGATCGCACCAGTGCACTCTAGCTTGGGTGACAGAGTGAGATCCTGTCTCAGAAAAAGAAAAAAGCAACACACACACACACATCCCATAAATGAATAAATGAGGGAAAGTAGCCACAGACAGACCCATACGATGACCTTAGGCTCTAATGTTCAATGTGTTACTGTCTGATTACCTGGAAGACCTACTCCGTATTAAAAAGTCACAGCCCTGGTGAAAAACAGGGACACAGGCATGAGAAGGAAAGAGGGGAAAGCTATCTATCTCCTGTCTCTAATGATACTGATTTGTCTCTAATTCAAGCTGATTTGCTTGCTTACTTTTAAGAAAAATGAGCTAGCTATGCCCTGCTGAGTTTTCAATTTTCAAAATATTAATATAGAAAAGATACAACTCAAACACGAAACACAACGTAGCTATCATACATTGTTAAACATAACTGTTTTAATTTCTAAAAGTTGTATATCAGTTTCTAATAACTATCAGGTACTTGTCTTATTAATACATGGGAGAGAAGTCCAGATGATGACAGAAACGAAGAAACAAGGTCGCAGCTCTTACAAGGGTTTTATTTTCTGCAGTGTCTTTTCTCTGTGAAGTTCATATATTAAGAATCGCATCCAAGAGGATAAATGAGCTATAATGAAGTGGGATAGACTACGTCCATCTCTAGTTTTCTACTCTGAAATCTCTGATGAGTGACGGCAGAGCGTTTTGAGGTGTTTCTGTAACAGGCCTTTCACCCGCAGGAAGGGAGCGGCGTTGCTATTCTCTTAAAAGCTTCATGATGGCCGGGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGAAGTGCTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTGTCTTAAAAAAAAAAAAAAAAAGGCTTTGGAACCTGGAGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGATCAAGTGCTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGTGCATTCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTTCAGAACCTGGGCCACGGCAGCTCTGTGCCGGCTGCGCCCTGGGAGACCCTCTCTGTATTGAACAGTGATACCCCTGATAGAAAACAGGGACATAGGAAGGAGATAGGAAGAGGGGGAAATCCAGTTTTTGTATTTTGTCTCAAATAATACTGTTTGGGTGATGTTTCTGTCATAGGTTGCTTTAGGTTAATAATAATAATAATAATAATGGCTTGGTCATCTTTCCCGTGGCAGTCAACATAAATTTCTTTTAAATGTTTCTCTAAAAAAGCTTTCAGGTTCATCAGTAATCCTGTGATATAACACAGCACAATTATTTGCTAACTATAATCACACATTAAAATGATAGTTCACATTTGTCTTCTACACTGAAGACATT
CTCCTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATGGTTTGAGATATCAAGAAACAGAGAGGATGAATCGCTTGACTTGTTTACTCTTTTTGTAATGCCCAAAGAGACAGACAAGAGCTGACATTCAGCCTGACCCGCTGGGCAGACTGTGTCCCGTGGTCCAGGGCTGGAAACGGGGCATCTTTTTCTGAAGGTGCCAAGCTATATACCTGTGGGGATAAATCTGCCCAGAGAAGAGGCCTTTTCTAGTTAGCACAAATGTGCTGTGCAGTTATGCCTGCCTGGAAATTTATATGAATTTAATGATGGTCTGGATGAGCCTGGCTCCCTCTGTTCAATGTTGCCTGTGAGATTCCTCCACTGTTGAATGCAGCTGTACTGTTCGTTTTCAATCCTGTATCGTATTCCATCGAATGAATGTGACACAATTTATCCATTCTTCTTTTCAAAGATATTTGGATTATTCCCAGTTTTATGGCATTAACATTCGTTTAGTTCTTAATGTTTCATGATTATAGAGACTATTGTGAGATTCAGGTCTTTTAAACACTTGAAGTTTGCAAGTGACTGCACCAGGCCCCATTTCTAGAGTTTCTGATTCAGTGGATATGGGACGGGGCCCCAACATGAACATTTCATTTTCTAGTAAATTCCAGGTGGTGGTGATGATGCCTGGCCTGAGGACCACCTCGGAAAAATCACTGCTGTACTGGAATTTCTCTTGGTGTTCTCATTTAGCGAATAAGACATGTTTCTTGCAGGTGGTGAAGATTCCTTTAGGGTAGGTATTTTTGGGTTACAGACTTAATTGTAAAAACTAGTCTTAACTGAAATTTCTGAACTAAAGAGAAATCAATACTGTAGCACACACACCGTTTAATATTGGATTCTGAGAGTTCAAAGGGCATGCTGTTTGCTCCCACATCGGGTCCATGTGGCCCTGACAAAGGCTGGGTTGTTCATATTTGACTGGGGCTGGGGAGGTGGAGGGATGGGAAGAGGAGGAGGGAAGGGAGGGCTGGCAGTTTTAAGAACTCTCAAGCCCACCTCTTACTACTGAGTGTGTGAAATGAGAGGAAGGCCAGCTCCTCTTGTCTAAAGCCCTCTCCCGTTCTCTCTGCTCCTCACTGTCTGAGACTCTGAAGGCTTGCTCAAAGTGAATCTGTCAAAAAATGAGTTTAACCACACTCTATCTGAAAGTGAATGTGATTTCTGTACAATATTAATGAATAAAAGTTTGTGTTTAGGTATTCTGTTTTATCTACTCAAAATATAAGTTTTTTTTCTCTTTAAGGAAAGATGAAGGTATCAAATAGAAGCCAGTGACGTTCCCTCTATGTTTCTGGTCACTAGTTCTCTCACAAAGCACAATTGAAGAGGTCTTTTCAGTGGAAAAGGTTATGATGAACATGGCAATGGCTCCCAAGTCATTTAGGGGGCCACTGGACCTTGATAGGATGCTCTTAACTTCGAATACGTTCTATACACTTTCCTCACTCACGCAGAACACTTAAACTTCCCAACTGAAGAGAAAACGAAAATGGTTTCAAAGTAATATACTCAAAGCCTTGATCTGTAGGTGGGTGGAGAAATGATGGTTTAAATGCTGCACTTCCTGTTCTACCTCCCACCCTTCCTAGACGCCGATGGCAAAGGTCAGAAACCAGCATTTTACCTGCTGGTGTGAGGATCAGGGCTTGCAGAATGTCCGACAGGGAAATAATACCCACAATACTATCTGCTTCATTTACCACCACCAGCTGATGGACCTGCAAAGAGAAAAGCAGGACACGTGAAAATTAACATTTAAAAAAGGTTTAAAATGGACATGAGAAATAATGTCCTGTCATGTTTTTATATGATCAACACATCCCTCCAGCCTGGGGAATAGCAGTGAGACATCATCTCTACAAAAACATTAGACAGTGGCTGGGTGTGCTGGTGTGCACCTGTGGTCCCAGTTACTTGGTGGGAGGATTGCTTGAGCCTGGGAAGTGGAGGTTGCAGTGGGCCAAGATCGCACCAGTGCACTCTAGCTTGGGTGACAGAGTGAGATCCTGTCTCAGAAAAAGAAAAAAGCAACACACACACACACATCCCATAAATGAATAAATGAGGGAAAGTAGCCACAGACAGACCCATACGATGACCTTAGGCTCTAATGTTCAATGTGTTACTGTCTGATTACCTGGAAGACCTACTCCGTATTAAAAAGTCACAGCCCTGGTGAAAAACAGGGACACAGGCATGAGAAGGAAAGAGGGGAAAGCTATCTATCTCCTGTCTCTAATGATACTGATTTGTCTCTAATTCAAGCTGATTTGCTTGCTTACTTTTAAGAAAAATGAGCTAGCTATGCCCTGCTGAGTTTTCAATTTTCAAAATATTAATATAGAAAAGATACAACTCAAACACGAAACACAACGTAGCTATCATACATTGTTAAACATAACTGTTTTAATTTCTAAAAGTTGTATATCAGTTTCTAATAACTATCAGGTACTTGTCTTATTAATACATGGGAGAGAAGTCCAGATGATGACAGAAACGAAGAAACAAGGTCGCAGCTCTTACAAGGGTTTTATTTTCTGCAGTGTCTTTTCTCTGTGAAGTTCATATATTAAGAATCGCATCCAAGAGGATAAATGAGCTATAATGAAGTGGGATAGACTACGTCCATCTCTAGTTTTCTACTCTGAAATCTCTGATGAGTGACGGCAGAGCGTTTTGAGGTGTTTCTGTAACAGGCCTTTCACCCGCAGGAAGGGAGCGGCGTTGCTATTCTCTTAAAAGCTTCATGATGGCCGGGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGAAGTGCTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTGTCTTAAAAAAAAAAAAAAAAAGGCTTTGGAACCTGGAGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGATCAAGTGCTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGTGCATTCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTTCAGAACCTGGGCCACGGCAGCTCTGTGCCGGCTGCGCCCTGGGAGACCCTCTCTGTATTGAACAGTGATACCCCTGATAGAAAACAGGGACATAGGAAGGAGATAGGAAGAGGGGGAAATCCAGTTTTTGTATTTTGTCTCAAATAATACTGTTTGGGTGATGTTTCTGTCATAGGTTGCTTTAGGTTAATAATAATAATAATAATAATGGCTTGGTCATCTTTCCCGTGGCAGTCAACATAAATTTCTTTTAAATGTTTCTCTAAAAAAGCTTTCAGGTTCATCAGTAATCCTGTGATATAACACAGCACAATTATTTGCTAACTATAATCACACATTAAAATGATAGTTCACATTTGTCTTCTACACTGAAGACATT
Task1_train_12496
This sequence change occurs on Chromosome 7, altering PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Cardiovascular phenotype
TCCTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATGGTTTGAGATATCAAGAAACAGAGAGGATGAATCGCTTGACTTGTTTACTCTTTTTGTAATGCCCAAAGAGACAGACAAGAGCTGACATTCAGCCTGACCCGCTGGGCAGACTGTGTCCCGTGGTCCAGGGCTGGAAACGGGGCATCTTTTTCTGAAGGTGCCAAGCTATATACCTGTGGGGATAAATCTGCCCAGAGAAGAGGCCTTTTCTAGTTAGCACAAATGTGCTGTGCAGTTATGCCTGCCTGGAAATTTATATGAATTTAATGATGGTCTGGATGAGCCTGGCTCCCTCTGTTCAATGTTGCCTGTGAGATTCCTCCACTGTTGAATGCAGCTGTACTGTTCGTTTTCAATCCTGTATCGTATTCCATCGAATGAATGTGACACAATTTATCCATTCTTCTTTTCAAAGATATTTGGATTATTCCCAGTTTTATGGCATTAACATTCGTTTAGTTCTTAATGTTTCATGATTATAGAGACTATTGTGAGATTCAGGTCTTTTAAACACTTGAAGTTTGCAAGTGACTGCACCAGGCCCCATTTCTAGAGTTTCTGATTCAGTGGATATGGGACGGGGCCCCAACATGAACATTTCATTTTCTAGTAAATTCCAGGTGGTGGTGATGATGCCTGGCCTGAGGACCACCTCGGAAAAATCACTGCTGTACTGGAATTTCTCTTGGTGTTCTCATTTAGCGAATAAGACATGTTTCTTGCAGGTGGTGAAGATTCCTTTAGGGTAGGTATTTTTGGGTTACAGACTTAATTGTAAAAACTAGTCTTAACTGAAATTTCTGAACTAAAGAGAAATCAATACTGTAGCACACACACCGTTTAATATTGGATTCTGAGAGTTCAAAGGGCATGCTGTTTGCTCCCACATCGGGTCCATGTGGCCCTGACAAAGGCTGGGTTGTTCATATTTGACTGGGGCTGGGGAGGTGGAGGGATGGGAAGAGGAGGAGGGAAGGGAGGGCTGGCAGTTTTAAGAACTCTCAAGCCCACCTCTTACTACTGAGTGTGTGAAATGAGAGGAAGGCCAGCTCCTCTTGTCTAAAGCCCTCTCCCGTTCTCTCTGCTCCTCACTGTCTGAGACTCTGAAGGCTTGCTCAAAGTGAATCTGTCAAAAAATGAGTTTAACCACACTCTATCTGAAAGTGAATGTGATTTCTGTACAATATTAATGAATAAAAGTTTGTGTTTAGGTATTCTGTTTTATCTACTCAAAATATAAGTTTTTTTTCTCTTTAAGGAAAGATGAAGGTATCAAATAGAAGCCAGTGACGTTCCCTCTATGTTTCTGGTCACTAGTTCTCTCACAAAGCACAATTGAAGAGGTCTTTTCAGTGGAAAAGGTTATGATGAACATGGCAATGGCTCCCAAGTCATTTAGGGGGCCACTGGACCTTGATAGGATGCTCTTAACTTCGAATACGTTCTATACACTTTCCTCACTCACGCAGAACACTTAAACTTCCCAACTGAAGAGAAAACGAAAATGGTTTCAAAGTAATATACTCAAAGCCTTGATCTGTAGGTGGGTGGAGAAATGATGGTTTAAATGCTGCACTTCCTGTTCTACCTCCCACCCTTCCTAGACGCCGATGGCAAAGGTCAGAAACCAGCATTTTACCTGCTGGTGTGAGGATCAGGGCTTGCAGAATGTCCGACAGGGAAATAATACCCACAATACTATCTGCTTCATTTACCACCACCAGCCGATGGACCTGCAAAGAGAAAAGCAGGACACGTGAAAATTAACATTTAAAAAAGGTTTAAAATGGACATGAGAAATAATGTCCTGTCATGTTTTTATATGATCAACACATCCCTCCAGCCTGGGGAATAGCAGTGAGACATCATCTCTACAAAAACATTAGACAGTGGCTGGGTGTGCTGGTGTGCACCTGTGGTCCCAGTTACTTGGTGGGAGGATTGCTTGAGCCTGGGAAGTGGAGGTTGCAGTGGGCCAAGATCGCACCAGTGCACTCTAGCTTGGGTGACAGAGTGAGATCCTGTCTCAGAAAAAGAAAAAAGCAACACACACACACACATCCCATAAATGAATAAATGAGGGAAAGTAGCCACAGACAGACCCATACGATGACCTTAGGCTCTAATGTTCAATGTGTTACTGTCTGATTACCTGGAAGACCTACTCCGTATTAAAAAGTCACAGCCCTGGTGAAAAACAGGGACACAGGCATGAGAAGGAAAGAGGGGAAAGCTATCTATCTCCTGTCTCTAATGATACTGATTTGTCTCTAATTCAAGCTGATTTGCTTGCTTACTTTTAAGAAAAATGAGCTAGCTATGCCCTGCTGAGTTTTCAATTTTCAAAATATTAATATAGAAAAGATACAACTCAAACACGAAACACAACGTAGCTATCATACATTGTTAAACATAACTGTTTTAATTTCTAAAAGTTGTATATCAGTTTCTAATAACTATCAGGTACTTGTCTTATTAATACATGGGAGAGAAGTCCAGATGATGACAGAAACGAAGAAACAAGGTCGCAGCTCTTACAAGGGTTTTATTTTCTGCAGTGTCTTTTCTCTGTGAAGTTCATATATTAAGAATCGCATCCAAGAGGATAAATGAGCTATAATGAAGTGGGATAGACTACGTCCATCTCTAGTTTTCTACTCTGAAATCTCTGATGAGTGACGGCAGAGCGTTTTGAGGTGTTTCTGTAACAGGCCTTTCACCCGCAGGAAGGGAGCGGCGTTGCTATTCTCTTAAAAGCTTCATGATGGCCGGGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGAAGTGCTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTGTCTTAAAAAAAAAAAAAAAAAGGCTTTGGAACCTGGAGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGATCAAGTGCTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGTGCATTCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTTCAGAACCTGGGCCACGGCAGCTCTGTGCCGGCTGCGCCCTGGGAGACCCTCTCTGTATTGAACAGTGATACCCCTGATAGAAAACAGGGACATAGGAAGGAGATAGGAAGAGGGGGAAATCCAGTTTTTGTATTTTGTCTCAAATAATACTGTTTGGGTGATGTTTCTGTCATAGGTTGCTTTAGGTTAATAATAATAATAATAATAATGGCTTGGTCATCTTTCCCGTGGCAGTCAACATAAATTTCTTTTAAATGTTTCTCTAAAAAAGCTTTCAGGTTCATCAGTAATCCTGTGATATAACACAGCACAATTATTTGCTAACTATAATCACACATTAAAATGATAGTTCACATTTGTCTTCTACACTGAAGACATTT
TCCTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATGGTTTGAGATATCAAGAAACAGAGAGGATGAATCGCTTGACTTGTTTACTCTTTTTGTAATGCCCAAAGAGACAGACAAGAGCTGACATTCAGCCTGACCCGCTGGGCAGACTGTGTCCCGTGGTCCAGGGCTGGAAACGGGGCATCTTTTTCTGAAGGTGCCAAGCTATATACCTGTGGGGATAAATCTGCCCAGAGAAGAGGCCTTTTCTAGTTAGCACAAATGTGCTGTGCAGTTATGCCTGCCTGGAAATTTATATGAATTTAATGATGGTCTGGATGAGCCTGGCTCCCTCTGTTCAATGTTGCCTGTGAGATTCCTCCACTGTTGAATGCAGCTGTACTGTTCGTTTTCAATCCTGTATCGTATTCCATCGAATGAATGTGACACAATTTATCCATTCTTCTTTTCAAAGATATTTGGATTATTCCCAGTTTTATGGCATTAACATTCGTTTAGTTCTTAATGTTTCATGATTATAGAGACTATTGTGAGATTCAGGTCTTTTAAACACTTGAAGTTTGCAAGTGACTGCACCAGGCCCCATTTCTAGAGTTTCTGATTCAGTGGATATGGGACGGGGCCCCAACATGAACATTTCATTTTCTAGTAAATTCCAGGTGGTGGTGATGATGCCTGGCCTGAGGACCACCTCGGAAAAATCACTGCTGTACTGGAATTTCTCTTGGTGTTCTCATTTAGCGAATAAGACATGTTTCTTGCAGGTGGTGAAGATTCCTTTAGGGTAGGTATTTTTGGGTTACAGACTTAATTGTAAAAACTAGTCTTAACTGAAATTTCTGAACTAAAGAGAAATCAATACTGTAGCACACACACCGTTTAATATTGGATTCTGAGAGTTCAAAGGGCATGCTGTTTGCTCCCACATCGGGTCCATGTGGCCCTGACAAAGGCTGGGTTGTTCATATTTGACTGGGGCTGGGGAGGTGGAGGGATGGGAAGAGGAGGAGGGAAGGGAGGGCTGGCAGTTTTAAGAACTCTCAAGCCCACCTCTTACTACTGAGTGTGTGAAATGAGAGGAAGGCCAGCTCCTCTTGTCTAAAGCCCTCTCCCGTTCTCTCTGCTCCTCACTGTCTGAGACTCTGAAGGCTTGCTCAAAGTGAATCTGTCAAAAAATGAGTTTAACCACACTCTATCTGAAAGTGAATGTGATTTCTGTACAATATTAATGAATAAAAGTTTGTGTTTAGGTATTCTGTTTTATCTACTCAAAATATAAGTTTTTTTTCTCTTTAAGGAAAGATGAAGGTATCAAATAGAAGCCAGTGACGTTCCCTCTATGTTTCTGGTCACTAGTTCTCTCACAAAGCACAATTGAAGAGGTCTTTTCAGTGGAAAAGGTTATGATGAACATGGCAATGGCTCCCAAGTCATTTAGGGGGCCACTGGACCTTGATAGGATGCTCTTAACTTCGAATACGTTCTATACACTTTCCTCACTCACGCAGAACACTTAAACTTCCCAACTGAAGAGAAAACGAAAATGGTTTCAAAGTAATATACTCAAAGCCTTGATCTGTAGGTGGGTGGAGAAATGATGGTTTAAATGCTGCACTTCCTGTTCTACCTCCCACCCTTCCTAGACGCCGATGGCAAAGGTCAGAAACCAGCATTTTACCTGCTGGTGTGAGGATCAGGGCTTGCAGAATGTCCGACAGGGAAATAATACCCACAATACTATCTGCTTCATTTACCACCACCAGCCCATGGACCTGCAAAGAGAAAAGCAGGACACGTGAAAATTAACATTTAAAAAAGGTTTAAAATGGACATGAGAAATAATGTCCTGTCATGTTTTTATATGATCAACACATCCCTCCAGCCTGGGGAATAGCAGTGAGACATCATCTCTACAAAAACATTAGACAGTGGCTGGGTGTGCTGGTGTGCACCTGTGGTCCCAGTTACTTGGTGGGAGGATTGCTTGAGCCTGGGAAGTGGAGGTTGCAGTGGGCCAAGATCGCACCAGTGCACTCTAGCTTGGGTGACAGAGTGAGATCCTGTCTCAGAAAAAGAAAAAAGCAACACACACACACACATCCCATAAATGAATAAATGAGGGAAAGTAGCCACAGACAGACCCATACGATGACCTTAGGCTCTAATGTTCAATGTGTTACTGTCTGATTACCTGGAAGACCTACTCCGTATTAAAAAGTCACAGCCCTGGTGAAAAACAGGGACACAGGCATGAGAAGGAAAGAGGGGAAAGCTATCTATCTCCTGTCTCTAATGATACTGATTTGTCTCTAATTCAAGCTGATTTGCTTGCTTACTTTTAAGAAAAATGAGCTAGCTATGCCCTGCTGAGTTTTCAATTTTCAAAATATTAATATAGAAAAGATACAACTCAAACACGAAACACAACGTAGCTATCATACATTGTTAAACATAACTGTTTTAATTTCTAAAAGTTGTATATCAGTTTCTAATAACTATCAGGTACTTGTCTTATTAATACATGGGAGAGAAGTCCAGATGATGACAGAAACGAAGAAACAAGGTCGCAGCTCTTACAAGGGTTTTATTTTCTGCAGTGTCTTTTCTCTGTGAAGTTCATATATTAAGAATCGCATCCAAGAGGATAAATGAGCTATAATGAAGTGGGATAGACTACGTCCATCTCTAGTTTTCTACTCTGAAATCTCTGATGAGTGACGGCAGAGCGTTTTGAGGTGTTTCTGTAACAGGCCTTTCACCCGCAGGAAGGGAGCGGCGTTGCTATTCTCTTAAAAGCTTCATGATGGCCGGGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGAAGTGCTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTGTCTTAAAAAAAAAAAAAAAAAGGCTTTGGAACCTGGAGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGATCAAGTGCTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGTGCATTCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTTCAGAACCTGGGCCACGGCAGCTCTGTGCCGGCTGCGCCCTGGGAGACCCTCTCTGTATTGAACAGTGATACCCCTGATAGAAAACAGGGACATAGGAAGGAGATAGGAAGAGGGGGAAATCCAGTTTTTGTATTTTGTCTCAAATAATACTGTTTGGGTGATGTTTCTGTCATAGGTTGCTTTAGGTTAATAATAATAATAATAATAATGGCTTGGTCATCTTTCCCGTGGCAGTCAACATAAATTTCTTTTAAATGTTTCTCTAAAAAAGCTTTCAGGTTCATCAGTAATCCTGTGATATAACACAGCACAATTATTTGCTAACTATAATCACACATTAAAATGATAGTTCACATTTGTCTTCTACACTGAAGACATTT
Task1_train_12497
Given this context: Chromosome 7, gene PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Cardiovascular phenotype
CTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATGGTTTGAGATATCAAGAAACAGAGAGGATGAATCGCTTGACTTGTTTACTCTTTTTGTAATGCCCAAAGAGACAGACAAGAGCTGACATTCAGCCTGACCCGCTGGGCAGACTGTGTCCCGTGGTCCAGGGCTGGAAACGGGGCATCTTTTTCTGAAGGTGCCAAGCTATATACCTGTGGGGATAAATCTGCCCAGAGAAGAGGCCTTTTCTAGTTAGCACAAATGTGCTGTGCAGTTATGCCTGCCTGGAAATTTATATGAATTTAATGATGGTCTGGATGAGCCTGGCTCCCTCTGTTCAATGTTGCCTGTGAGATTCCTCCACTGTTGAATGCAGCTGTACTGTTCGTTTTCAATCCTGTATCGTATTCCATCGAATGAATGTGACACAATTTATCCATTCTTCTTTTCAAAGATATTTGGATTATTCCCAGTTTTATGGCATTAACATTCGTTTAGTTCTTAATGTTTCATGATTATAGAGACTATTGTGAGATTCAGGTCTTTTAAACACTTGAAGTTTGCAAGTGACTGCACCAGGCCCCATTTCTAGAGTTTCTGATTCAGTGGATATGGGACGGGGCCCCAACATGAACATTTCATTTTCTAGTAAATTCCAGGTGGTGGTGATGATGCCTGGCCTGAGGACCACCTCGGAAAAATCACTGCTGTACTGGAATTTCTCTTGGTGTTCTCATTTAGCGAATAAGACATGTTTCTTGCAGGTGGTGAAGATTCCTTTAGGGTAGGTATTTTTGGGTTACAGACTTAATTGTAAAAACTAGTCTTAACTGAAATTTCTGAACTAAAGAGAAATCAATACTGTAGCACACACACCGTTTAATATTGGATTCTGAGAGTTCAAAGGGCATGCTGTTTGCTCCCACATCGGGTCCATGTGGCCCTGACAAAGGCTGGGTTGTTCATATTTGACTGGGGCTGGGGAGGTGGAGGGATGGGAAGAGGAGGAGGGAAGGGAGGGCTGGCAGTTTTAAGAACTCTCAAGCCCACCTCTTACTACTGAGTGTGTGAAATGAGAGGAAGGCCAGCTCCTCTTGTCTAAAGCCCTCTCCCGTTCTCTCTGCTCCTCACTGTCTGAGACTCTGAAGGCTTGCTCAAAGTGAATCTGTCAAAAAATGAGTTTAACCACACTCTATCTGAAAGTGAATGTGATTTCTGTACAATATTAATGAATAAAAGTTTGTGTTTAGGTATTCTGTTTTATCTACTCAAAATATAAGTTTTTTTTCTCTTTAAGGAAAGATGAAGGTATCAAATAGAAGCCAGTGACGTTCCCTCTATGTTTCTGGTCACTAGTTCTCTCACAAAGCACAATTGAAGAGGTCTTTTCAGTGGAAAAGGTTATGATGAACATGGCAATGGCTCCCAAGTCATTTAGGGGGCCACTGGACCTTGATAGGATGCTCTTAACTTCGAATACGTTCTATACACTTTCCTCACTCACGCAGAACACTTAAACTTCCCAACTGAAGAGAAAACGAAAATGGTTTCAAAGTAATATACTCAAAGCCTTGATCTGTAGGTGGGTGGAGAAATGATGGTTTAAATGCTGCACTTCCTGTTCTACCTCCCACCCTTCCTAGACGCCGATGGCAAAGGTCAGAAACCAGCATTTTACCTGCTGGTGTGAGGATCAGGGCTTGCAGAATGTCCGACAGGGAAATAATACCCACAATACTATCTGCTTCATTTACCACCACCAGCCGATGGACCTGCAAAGAGAAAAGCAGGACACGTGAAAATTAACATTTAAAAAAGGTTTAAAATGGACATGAGAAATAATGTCCTGTCATGTTTTTATATGATCAACACATCCCTCCAGCCTGGGGAATAGCAGTGAGACATCATCTCTACAAAAACATTAGACAGTGGCTGGGTGTGCTGGTGTGCACCTGTGGTCCCAGTTACTTGGTGGGAGGATTGCTTGAGCCTGGGAAGTGGAGGTTGCAGTGGGCCAAGATCGCACCAGTGCACTCTAGCTTGGGTGACAGAGTGAGATCCTGTCTCAGAAAAAGAAAAAAGCAACACACACACACACATCCCATAAATGAATAAATGAGGGAAAGTAGCCACAGACAGACCCATACGATGACCTTAGGCTCTAATGTTCAATGTGTTACTGTCTGATTACCTGGAAGACCTACTCCGTATTAAAAAGTCACAGCCCTGGTGAAAAACAGGGACACAGGCATGAGAAGGAAAGAGGGGAAAGCTATCTATCTCCTGTCTCTAATGATACTGATTTGTCTCTAATTCAAGCTGATTTGCTTGCTTACTTTTAAGAAAAATGAGCTAGCTATGCCCTGCTGAGTTTTCAATTTTCAAAATATTAATATAGAAAAGATACAACTCAAACACGAAACACAACGTAGCTATCATACATTGTTAAACATAACTGTTTTAATTTCTAAAAGTTGTATATCAGTTTCTAATAACTATCAGGTACTTGTCTTATTAATACATGGGAGAGAAGTCCAGATGATGACAGAAACGAAGAAACAAGGTCGCAGCTCTTACAAGGGTTTTATTTTCTGCAGTGTCTTTTCTCTGTGAAGTTCATATATTAAGAATCGCATCCAAGAGGATAAATGAGCTATAATGAAGTGGGATAGACTACGTCCATCTCTAGTTTTCTACTCTGAAATCTCTGATGAGTGACGGCAGAGCGTTTTGAGGTGTTTCTGTAACAGGCCTTTCACCCGCAGGAAGGGAGCGGCGTTGCTATTCTCTTAAAAGCTTCATGATGGCCGGGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGAAGTGCTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTGTCTTAAAAAAAAAAAAAAAAAGGCTTTGGAACCTGGAGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGATCAAGTGCTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGTGCATTCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTTCAGAACCTGGGCCACGGCAGCTCTGTGCCGGCTGCGCCCTGGGAGACCCTCTCTGTATTGAACAGTGATACCCCTGATAGAAAACAGGGACATAGGAAGGAGATAGGAAGAGGGGGAAATCCAGTTTTTGTATTTTGTCTCAAATAATACTGTTTGGGTGATGTTTCTGTCATAGGTTGCTTTAGGTTAATAATAATAATAATAATAATGGCTTGGTCATCTTTCCCGTGGCAGTCAACATAAATTTCTTTTAAATGTTTCTCTAAAAAAGCTTTCAGGTTCATCAGTAATCCTGTGATATAACACAGCACAATTATTTGCTAACTATAATCACACATTAAAATGATAGTTCACATTTGTCTTCTACACTGAAGACATTTTA
CTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATGGTTTGAGATATCAAGAAACAGAGAGGATGAATCGCTTGACTTGTTTACTCTTTTTGTAATGCCCAAAGAGACAGACAAGAGCTGACATTCAGCCTGACCCGCTGGGCAGACTGTGTCCCGTGGTCCAGGGCTGGAAACGGGGCATCTTTTTCTGAAGGTGCCAAGCTATATACCTGTGGGGATAAATCTGCCCAGAGAAGAGGCCTTTTCTAGTTAGCACAAATGTGCTGTGCAGTTATGCCTGCCTGGAAATTTATATGAATTTAATGATGGTCTGGATGAGCCTGGCTCCCTCTGTTCAATGTTGCCTGTGAGATTCCTCCACTGTTGAATGCAGCTGTACTGTTCGTTTTCAATCCTGTATCGTATTCCATCGAATGAATGTGACACAATTTATCCATTCTTCTTTTCAAAGATATTTGGATTATTCCCAGTTTTATGGCATTAACATTCGTTTAGTTCTTAATGTTTCATGATTATAGAGACTATTGTGAGATTCAGGTCTTTTAAACACTTGAAGTTTGCAAGTGACTGCACCAGGCCCCATTTCTAGAGTTTCTGATTCAGTGGATATGGGACGGGGCCCCAACATGAACATTTCATTTTCTAGTAAATTCCAGGTGGTGGTGATGATGCCTGGCCTGAGGACCACCTCGGAAAAATCACTGCTGTACTGGAATTTCTCTTGGTGTTCTCATTTAGCGAATAAGACATGTTTCTTGCAGGTGGTGAAGATTCCTTTAGGGTAGGTATTTTTGGGTTACAGACTTAATTGTAAAAACTAGTCTTAACTGAAATTTCTGAACTAAAGAGAAATCAATACTGTAGCACACACACCGTTTAATATTGGATTCTGAGAGTTCAAAGGGCATGCTGTTTGCTCCCACATCGGGTCCATGTGGCCCTGACAAAGGCTGGGTTGTTCATATTTGACTGGGGCTGGGGAGGTGGAGGGATGGGAAGAGGAGGAGGGAAGGGAGGGCTGGCAGTTTTAAGAACTCTCAAGCCCACCTCTTACTACTGAGTGTGTGAAATGAGAGGAAGGCCAGCTCCTCTTGTCTAAAGCCCTCTCCCGTTCTCTCTGCTCCTCACTGTCTGAGACTCTGAAGGCTTGCTCAAAGTGAATCTGTCAAAAAATGAGTTTAACCACACTCTATCTGAAAGTGAATGTGATTTCTGTACAATATTAATGAATAAAAGTTTGTGTTTAGGTATTCTGTTTTATCTACTCAAAATATAAGTTTTTTTTCTCTTTAAGGAAAGATGAAGGTATCAAATAGAAGCCAGTGACGTTCCCTCTATGTTTCTGGTCACTAGTTCTCTCACAAAGCACAATTGAAGAGGTCTTTTCAGTGGAAAAGGTTATGATGAACATGGCAATGGCTCCCAAGTCATTTAGGGGGCCACTGGACCTTGATAGGATGCTCTTAACTTCGAATACGTTCTATACACTTTCCTCACTCACGCAGAACACTTAAACTTCCCAACTGAAGAGAAAACGAAAATGGTTTCAAAGTAATATACTCAAAGCCTTGATCTGTAGGTGGGTGGAGAAATGATGGTTTAAATGCTGCACTTCCTGTTCTACCTCCCACCCTTCCTAGACGCCGATGGCAAAGGTCAGAAACCAGCATTTTACCTGCTGGTGTGAGGATCAGGGCTTGCAGAATGTCCGACAGGGAAATAATACCCACAATACTATCTGCTTCATTTACCACCACCAGCCGACGGACCTGCAAAGAGAAAAGCAGGACACGTGAAAATTAACATTTAAAAAAGGTTTAAAATGGACATGAGAAATAATGTCCTGTCATGTTTTTATATGATCAACACATCCCTCCAGCCTGGGGAATAGCAGTGAGACATCATCTCTACAAAAACATTAGACAGTGGCTGGGTGTGCTGGTGTGCACCTGTGGTCCCAGTTACTTGGTGGGAGGATTGCTTGAGCCTGGGAAGTGGAGGTTGCAGTGGGCCAAGATCGCACCAGTGCACTCTAGCTTGGGTGACAGAGTGAGATCCTGTCTCAGAAAAAGAAAAAAGCAACACACACACACACATCCCATAAATGAATAAATGAGGGAAAGTAGCCACAGACAGACCCATACGATGACCTTAGGCTCTAATGTTCAATGTGTTACTGTCTGATTACCTGGAAGACCTACTCCGTATTAAAAAGTCACAGCCCTGGTGAAAAACAGGGACACAGGCATGAGAAGGAAAGAGGGGAAAGCTATCTATCTCCTGTCTCTAATGATACTGATTTGTCTCTAATTCAAGCTGATTTGCTTGCTTACTTTTAAGAAAAATGAGCTAGCTATGCCCTGCTGAGTTTTCAATTTTCAAAATATTAATATAGAAAAGATACAACTCAAACACGAAACACAACGTAGCTATCATACATTGTTAAACATAACTGTTTTAATTTCTAAAAGTTGTATATCAGTTTCTAATAACTATCAGGTACTTGTCTTATTAATACATGGGAGAGAAGTCCAGATGATGACAGAAACGAAGAAACAAGGTCGCAGCTCTTACAAGGGTTTTATTTTCTGCAGTGTCTTTTCTCTGTGAAGTTCATATATTAAGAATCGCATCCAAGAGGATAAATGAGCTATAATGAAGTGGGATAGACTACGTCCATCTCTAGTTTTCTACTCTGAAATCTCTGATGAGTGACGGCAGAGCGTTTTGAGGTGTTTCTGTAACAGGCCTTTCACCCGCAGGAAGGGAGCGGCGTTGCTATTCTCTTAAAAGCTTCATGATGGCCGGGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGAAGTGCTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTGTCTTAAAAAAAAAAAAAAAAAGGCTTTGGAACCTGGAGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGATCAAGTGCTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGTGCATTCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTTCAGAACCTGGGCCACGGCAGCTCTGTGCCGGCTGCGCCCTGGGAGACCCTCTCTGTATTGAACAGTGATACCCCTGATAGAAAACAGGGACATAGGAAGGAGATAGGAAGAGGGGGAAATCCAGTTTTTGTATTTTGTCTCAAATAATACTGTTTGGGTGATGTTTCTGTCATAGGTTGCTTTAGGTTAATAATAATAATAATAATAATGGCTTGGTCATCTTTCCCGTGGCAGTCAACATAAATTTCTTTTAAATGTTTCTCTAAAAAAGCTTTCAGGTTCATCAGTAATCCTGTGATATAACACAGCACAATTATTTGCTAACTATAATCACACATTAAAATGATAGTTCACATTTGTCTTCTACACTGAAGACATTTTA
Task1_train_12498
A mutation found in PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Hypertrophic cardiomyopathy
CTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATGGTTTGAGATATCAAGAAACAGAGAGGATGAATCGCTTGACTTGTTTACTCTTTTTGTAATGCCCAAAGAGACAGACAAGAGCTGACATTCAGCCTGACCCGCTGGGCAGACTGTGTCCCGTGGTCCAGGGCTGGAAACGGGGCATCTTTTTCTGAAGGTGCCAAGCTATATACCTGTGGGGATAAATCTGCCCAGAGAAGAGGCCTTTTCTAGTTAGCACAAATGTGCTGTGCAGTTATGCCTGCCTGGAAATTTATATGAATTTAATGATGGTCTGGATGAGCCTGGCTCCCTCTGTTCAATGTTGCCTGTGAGATTCCTCCACTGTTGAATGCAGCTGTACTGTTCGTTTTCAATCCTGTATCGTATTCCATCGAATGAATGTGACACAATTTATCCATTCTTCTTTTCAAAGATATTTGGATTATTCCCAGTTTTATGGCATTAACATTCGTTTAGTTCTTAATGTTTCATGATTATAGAGACTATTGTGAGATTCAGGTCTTTTAAACACTTGAAGTTTGCAAGTGACTGCACCAGGCCCCATTTCTAGAGTTTCTGATTCAGTGGATATGGGACGGGGCCCCAACATGAACATTTCATTTTCTAGTAAATTCCAGGTGGTGGTGATGATGCCTGGCCTGAGGACCACCTCGGAAAAATCACTGCTGTACTGGAATTTCTCTTGGTGTTCTCATTTAGCGAATAAGACATGTTTCTTGCAGGTGGTGAAGATTCCTTTAGGGTAGGTATTTTTGGGTTACAGACTTAATTGTAAAAACTAGTCTTAACTGAAATTTCTGAACTAAAGAGAAATCAATACTGTAGCACACACACCGTTTAATATTGGATTCTGAGAGTTCAAAGGGCATGCTGTTTGCTCCCACATCGGGTCCATGTGGCCCTGACAAAGGCTGGGTTGTTCATATTTGACTGGGGCTGGGGAGGTGGAGGGATGGGAAGAGGAGGAGGGAAGGGAGGGCTGGCAGTTTTAAGAACTCTCAAGCCCACCTCTTACTACTGAGTGTGTGAAATGAGAGGAAGGCCAGCTCCTCTTGTCTAAAGCCCTCTCCCGTTCTCTCTGCTCCTCACTGTCTGAGACTCTGAAGGCTTGCTCAAAGTGAATCTGTCAAAAAATGAGTTTAACCACACTCTATCTGAAAGTGAATGTGATTTCTGTACAATATTAATGAATAAAAGTTTGTGTTTAGGTATTCTGTTTTATCTACTCAAAATATAAGTTTTTTTTCTCTTTAAGGAAAGATGAAGGTATCAAATAGAAGCCAGTGACGTTCCCTCTATGTTTCTGGTCACTAGTTCTCTCACAAAGCACAATTGAAGAGGTCTTTTCAGTGGAAAAGGTTATGATGAACATGGCAATGGCTCCCAAGTCATTTAGGGGGCCACTGGACCTTGATAGGATGCTCTTAACTTCGAATACGTTCTATACACTTTCCTCACTCACGCAGAACACTTAAACTTCCCAACTGAAGAGAAAACGAAAATGGTTTCAAAGTAATATACTCAAAGCCTTGATCTGTAGGTGGGTGGAGAAATGATGGTTTAAATGCTGCACTTCCTGTTCTACCTCCCACCCTTCCTAGACGCCGATGGCAAAGGTCAGAAACCAGCATTTTACCTGCTGGTGTGAGGATCAGGGCTTGCAGAATGTCCGACAGGGAAATAATACCCACAATACTATCTGCTTCATTTACCACCACCAGCCGATGGACCTGCAAAGAGAAAAGCAGGACACGTGAAAATTAACATTTAAAAAAGGTTTAAAATGGACATGAGAAATAATGTCCTGTCATGTTTTTATATGATCAACACATCCCTCCAGCCTGGGGAATAGCAGTGAGACATCATCTCTACAAAAACATTAGACAGTGGCTGGGTGTGCTGGTGTGCACCTGTGGTCCCAGTTACTTGGTGGGAGGATTGCTTGAGCCTGGGAAGTGGAGGTTGCAGTGGGCCAAGATCGCACCAGTGCACTCTAGCTTGGGTGACAGAGTGAGATCCTGTCTCAGAAAAAGAAAAAAGCAACACACACACACACATCCCATAAATGAATAAATGAGGGAAAGTAGCCACAGACAGACCCATACGATGACCTTAGGCTCTAATGTTCAATGTGTTACTGTCTGATTACCTGGAAGACCTACTCCGTATTAAAAAGTCACAGCCCTGGTGAAAAACAGGGACACAGGCATGAGAAGGAAAGAGGGGAAAGCTATCTATCTCCTGTCTCTAATGATACTGATTTGTCTCTAATTCAAGCTGATTTGCTTGCTTACTTTTAAGAAAAATGAGCTAGCTATGCCCTGCTGAGTTTTCAATTTTCAAAATATTAATATAGAAAAGATACAACTCAAACACGAAACACAACGTAGCTATCATACATTGTTAAACATAACTGTTTTAATTTCTAAAAGTTGTATATCAGTTTCTAATAACTATCAGGTACTTGTCTTATTAATACATGGGAGAGAAGTCCAGATGATGACAGAAACGAAGAAACAAGGTCGCAGCTCTTACAAGGGTTTTATTTTCTGCAGTGTCTTTTCTCTGTGAAGTTCATATATTAAGAATCGCATCCAAGAGGATAAATGAGCTATAATGAAGTGGGATAGACTACGTCCATCTCTAGTTTTCTACTCTGAAATCTCTGATGAGTGACGGCAGAGCGTTTTGAGGTGTTTCTGTAACAGGCCTTTCACCCGCAGGAAGGGAGCGGCGTTGCTATTCTCTTAAAAGCTTCATGATGGCCGGGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGAAGTGCTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTGTCTTAAAAAAAAAAAAAAAAAGGCTTTGGAACCTGGAGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGATCAAGTGCTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGTGCATTCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTTCAGAACCTGGGCCACGGCAGCTCTGTGCCGGCTGCGCCCTGGGAGACCCTCTCTGTATTGAACAGTGATACCCCTGATAGAAAACAGGGACATAGGAAGGAGATAGGAAGAGGGGGAAATCCAGTTTTTGTATTTTGTCTCAAATAATACTGTTTGGGTGATGTTTCTGTCATAGGTTGCTTTAGGTTAATAATAATAATAATAATAATGGCTTGGTCATCTTTCCCGTGGCAGTCAACATAAATTTCTTTTAAATGTTTCTCTAAAAAAGCTTTCAGGTTCATCAGTAATCCTGTGATATAACACAGCACAATTATTTGCTAACTATAATCACACATTAAAATGATAGTTCACATTTGTCTTCTACACTGAAGACATTTTA
CTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATGGTTTGAGATATCAAGAAACAGAGAGGATGAATCGCTTGACTTGTTTACTCTTTTTGTAATGCCCAAAGAGACAGACAAGAGCTGACATTCAGCCTGACCCGCTGGGCAGACTGTGTCCCGTGGTCCAGGGCTGGAAACGGGGCATCTTTTTCTGAAGGTGCCAAGCTATATACCTGTGGGGATAAATCTGCCCAGAGAAGAGGCCTTTTCTAGTTAGCACAAATGTGCTGTGCAGTTATGCCTGCCTGGAAATTTATATGAATTTAATGATGGTCTGGATGAGCCTGGCTCCCTCTGTTCAATGTTGCCTGTGAGATTCCTCCACTGTTGAATGCAGCTGTACTGTTCGTTTTCAATCCTGTATCGTATTCCATCGAATGAATGTGACACAATTTATCCATTCTTCTTTTCAAAGATATTTGGATTATTCCCAGTTTTATGGCATTAACATTCGTTTAGTTCTTAATGTTTCATGATTATAGAGACTATTGTGAGATTCAGGTCTTTTAAACACTTGAAGTTTGCAAGTGACTGCACCAGGCCCCATTTCTAGAGTTTCTGATTCAGTGGATATGGGACGGGGCCCCAACATGAACATTTCATTTTCTAGTAAATTCCAGGTGGTGGTGATGATGCCTGGCCTGAGGACCACCTCGGAAAAATCACTGCTGTACTGGAATTTCTCTTGGTGTTCTCATTTAGCGAATAAGACATGTTTCTTGCAGGTGGTGAAGATTCCTTTAGGGTAGGTATTTTTGGGTTACAGACTTAATTGTAAAAACTAGTCTTAACTGAAATTTCTGAACTAAAGAGAAATCAATACTGTAGCACACACACCGTTTAATATTGGATTCTGAGAGTTCAAAGGGCATGCTGTTTGCTCCCACATCGGGTCCATGTGGCCCTGACAAAGGCTGGGTTGTTCATATTTGACTGGGGCTGGGGAGGTGGAGGGATGGGAAGAGGAGGAGGGAAGGGAGGGCTGGCAGTTTTAAGAACTCTCAAGCCCACCTCTTACTACTGAGTGTGTGAAATGAGAGGAAGGCCAGCTCCTCTTGTCTAAAGCCCTCTCCCGTTCTCTCTGCTCCTCACTGTCTGAGACTCTGAAGGCTTGCTCAAAGTGAATCTGTCAAAAAATGAGTTTAACCACACTCTATCTGAAAGTGAATGTGATTTCTGTACAATATTAATGAATAAAAGTTTGTGTTTAGGTATTCTGTTTTATCTACTCAAAATATAAGTTTTTTTTCTCTTTAAGGAAAGATGAAGGTATCAAATAGAAGCCAGTGACGTTCCCTCTATGTTTCTGGTCACTAGTTCTCTCACAAAGCACAATTGAAGAGGTCTTTTCAGTGGAAAAGGTTATGATGAACATGGCAATGGCTCCCAAGTCATTTAGGGGGCCACTGGACCTTGATAGGATGCTCTTAACTTCGAATACGTTCTATACACTTTCCTCACTCACGCAGAACACTTAAACTTCCCAACTGAAGAGAAAACGAAAATGGTTTCAAAGTAATATACTCAAAGCCTTGATCTGTAGGTGGGTGGAGAAATGATGGTTTAAATGCTGCACTTCCTGTTCTACCTCCCACCCTTCCTAGACGCCGATGGCAAAGGTCAGAAACCAGCATTTTACCTGCTGGTGTGAGGATCAGGGCTTGCAGAATGTCCGACAGGGAAATAATACCCACAATACTATCTGCTTCATTTACCACCACCAGCCGACGGACCTGCAAAGAGAAAAGCAGGACACGTGAAAATTAACATTTAAAAAAGGTTTAAAATGGACATGAGAAATAATGTCCTGTCATGTTTTTATATGATCAACACATCCCTCCAGCCTGGGGAATAGCAGTGAGACATCATCTCTACAAAAACATTAGACAGTGGCTGGGTGTGCTGGTGTGCACCTGTGGTCCCAGTTACTTGGTGGGAGGATTGCTTGAGCCTGGGAAGTGGAGGTTGCAGTGGGCCAAGATCGCACCAGTGCACTCTAGCTTGGGTGACAGAGTGAGATCCTGTCTCAGAAAAAGAAAAAAGCAACACACACACACACATCCCATAAATGAATAAATGAGGGAAAGTAGCCACAGACAGACCCATACGATGACCTTAGGCTCTAATGTTCAATGTGTTACTGTCTGATTACCTGGAAGACCTACTCCGTATTAAAAAGTCACAGCCCTGGTGAAAAACAGGGACACAGGCATGAGAAGGAAAGAGGGGAAAGCTATCTATCTCCTGTCTCTAATGATACTGATTTGTCTCTAATTCAAGCTGATTTGCTTGCTTACTTTTAAGAAAAATGAGCTAGCTATGCCCTGCTGAGTTTTCAATTTTCAAAATATTAATATAGAAAAGATACAACTCAAACACGAAACACAACGTAGCTATCATACATTGTTAAACATAACTGTTTTAATTTCTAAAAGTTGTATATCAGTTTCTAATAACTATCAGGTACTTGTCTTATTAATACATGGGAGAGAAGTCCAGATGATGACAGAAACGAAGAAACAAGGTCGCAGCTCTTACAAGGGTTTTATTTTCTGCAGTGTCTTTTCTCTGTGAAGTTCATATATTAAGAATCGCATCCAAGAGGATAAATGAGCTATAATGAAGTGGGATAGACTACGTCCATCTCTAGTTTTCTACTCTGAAATCTCTGATGAGTGACGGCAGAGCGTTTTGAGGTGTTTCTGTAACAGGCCTTTCACCCGCAGGAAGGGAGCGGCGTTGCTATTCTCTTAAAAGCTTCATGATGGCCGGGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGAAGTGCTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTGTCTTAAAAAAAAAAAAAAAAAGGCTTTGGAACCTGGAGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGATCAAGTGCTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGTGCATTCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTTCAGAACCTGGGCCACGGCAGCTCTGTGCCGGCTGCGCCCTGGGAGACCCTCTCTGTATTGAACAGTGATACCCCTGATAGAAAACAGGGACATAGGAAGGAGATAGGAAGAGGGGGAAATCCAGTTTTTGTATTTTGTCTCAAATAATACTGTTTGGGTGATGTTTCTGTCATAGGTTGCTTTAGGTTAATAATAATAATAATAATAATGGCTTGGTCATCTTTCCCGTGGCAGTCAACATAAATTTCTTTTAAATGTTTCTCTAAAAAAGCTTTCAGGTTCATCAGTAATCCTGTGATATAACACAGCACAATTATTTGCTAACTATAATCACACATTAAAATGATAGTTCACATTTGTCTTCTACACTGAAGACATTTTA
Task1_train_12499
A variant affecting Chromosome 7, within the gene PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Hypertrophic cardiomyopathy 6
CTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATGGTTTGAGATATCAAGAAACAGAGAGGATGAATCGCTTGACTTGTTTACTCTTTTTGTAATGCCCAAAGAGACAGACAAGAGCTGACATTCAGCCTGACCCGCTGGGCAGACTGTGTCCCGTGGTCCAGGGCTGGAAACGGGGCATCTTTTTCTGAAGGTGCCAAGCTATATACCTGTGGGGATAAATCTGCCCAGAGAAGAGGCCTTTTCTAGTTAGCACAAATGTGCTGTGCAGTTATGCCTGCCTGGAAATTTATATGAATTTAATGATGGTCTGGATGAGCCTGGCTCCCTCTGTTCAATGTTGCCTGTGAGATTCCTCCACTGTTGAATGCAGCTGTACTGTTCGTTTTCAATCCTGTATCGTATTCCATCGAATGAATGTGACACAATTTATCCATTCTTCTTTTCAAAGATATTTGGATTATTCCCAGTTTTATGGCATTAACATTCGTTTAGTTCTTAATGTTTCATGATTATAGAGACTATTGTGAGATTCAGGTCTTTTAAACACTTGAAGTTTGCAAGTGACTGCACCAGGCCCCATTTCTAGAGTTTCTGATTCAGTGGATATGGGACGGGGCCCCAACATGAACATTTCATTTTCTAGTAAATTCCAGGTGGTGGTGATGATGCCTGGCCTGAGGACCACCTCGGAAAAATCACTGCTGTACTGGAATTTCTCTTGGTGTTCTCATTTAGCGAATAAGACATGTTTCTTGCAGGTGGTGAAGATTCCTTTAGGGTAGGTATTTTTGGGTTACAGACTTAATTGTAAAAACTAGTCTTAACTGAAATTTCTGAACTAAAGAGAAATCAATACTGTAGCACACACACCGTTTAATATTGGATTCTGAGAGTTCAAAGGGCATGCTGTTTGCTCCCACATCGGGTCCATGTGGCCCTGACAAAGGCTGGGTTGTTCATATTTGACTGGGGCTGGGGAGGTGGAGGGATGGGAAGAGGAGGAGGGAAGGGAGGGCTGGCAGTTTTAAGAACTCTCAAGCCCACCTCTTACTACTGAGTGTGTGAAATGAGAGGAAGGCCAGCTCCTCTTGTCTAAAGCCCTCTCCCGTTCTCTCTGCTCCTCACTGTCTGAGACTCTGAAGGCTTGCTCAAAGTGAATCTGTCAAAAAATGAGTTTAACCACACTCTATCTGAAAGTGAATGTGATTTCTGTACAATATTAATGAATAAAAGTTTGTGTTTAGGTATTCTGTTTTATCTACTCAAAATATAAGTTTTTTTTCTCTTTAAGGAAAGATGAAGGTATCAAATAGAAGCCAGTGACGTTCCCTCTATGTTTCTGGTCACTAGTTCTCTCACAAAGCACAATTGAAGAGGTCTTTTCAGTGGAAAAGGTTATGATGAACATGGCAATGGCTCCCAAGTCATTTAGGGGGCCACTGGACCTTGATAGGATGCTCTTAACTTCGAATACGTTCTATACACTTTCCTCACTCACGCAGAACACTTAAACTTCCCAACTGAAGAGAAAACGAAAATGGTTTCAAAGTAATATACTCAAAGCCTTGATCTGTAGGTGGGTGGAGAAATGATGGTTTAAATGCTGCACTTCCTGTTCTACCTCCCACCCTTCCTAGACGCCGATGGCAAAGGTCAGAAACCAGCATTTTACCTGCTGGTGTGAGGATCAGGGCTTGCAGAATGTCCGACAGGGAAATAATACCCACAATACTATCTGCTTCATTTACCACCACCAGCCGATGGACCTGCAAAGAGAAAAGCAGGACACGTGAAAATTAACATTTAAAAAAGGTTTAAAATGGACATGAGAAATAATGTCCTGTCATGTTTTTATATGATCAACACATCCCTCCAGCCTGGGGAATAGCAGTGAGACATCATCTCTACAAAAACATTAGACAGTGGCTGGGTGTGCTGGTGTGCACCTGTGGTCCCAGTTACTTGGTGGGAGGATTGCTTGAGCCTGGGAAGTGGAGGTTGCAGTGGGCCAAGATCGCACCAGTGCACTCTAGCTTGGGTGACAGAGTGAGATCCTGTCTCAGAAAAAGAAAAAAGCAACACACACACACACATCCCATAAATGAATAAATGAGGGAAAGTAGCCACAGACAGACCCATACGATGACCTTAGGCTCTAATGTTCAATGTGTTACTGTCTGATTACCTGGAAGACCTACTCCGTATTAAAAAGTCACAGCCCTGGTGAAAAACAGGGACACAGGCATGAGAAGGAAAGAGGGGAAAGCTATCTATCTCCTGTCTCTAATGATACTGATTTGTCTCTAATTCAAGCTGATTTGCTTGCTTACTTTTAAGAAAAATGAGCTAGCTATGCCCTGCTGAGTTTTCAATTTTCAAAATATTAATATAGAAAAGATACAACTCAAACACGAAACACAACGTAGCTATCATACATTGTTAAACATAACTGTTTTAATTTCTAAAAGTTGTATATCAGTTTCTAATAACTATCAGGTACTTGTCTTATTAATACATGGGAGAGAAGTCCAGATGATGACAGAAACGAAGAAACAAGGTCGCAGCTCTTACAAGGGTTTTATTTTCTGCAGTGTCTTTTCTCTGTGAAGTTCATATATTAAGAATCGCATCCAAGAGGATAAATGAGCTATAATGAAGTGGGATAGACTACGTCCATCTCTAGTTTTCTACTCTGAAATCTCTGATGAGTGACGGCAGAGCGTTTTGAGGTGTTTCTGTAACAGGCCTTTCACCCGCAGGAAGGGAGCGGCGTTGCTATTCTCTTAAAAGCTTCATGATGGCCGGGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGAAGTGCTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTGTCTTAAAAAAAAAAAAAAAAAGGCTTTGGAACCTGGAGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGATCAAGTGCTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGTGCATTCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTTCAGAACCTGGGCCACGGCAGCTCTGTGCCGGCTGCGCCCTGGGAGACCCTCTCTGTATTGAACAGTGATACCCCTGATAGAAAACAGGGACATAGGAAGGAGATAGGAAGAGGGGGAAATCCAGTTTTTGTATTTTGTCTCAAATAATACTGTTTGGGTGATGTTTCTGTCATAGGTTGCTTTAGGTTAATAATAATAATAATAATAATGGCTTGGTCATCTTTCCCGTGGCAGTCAACATAAATTTCTTTTAAATGTTTCTCTAAAAAAGCTTTCAGGTTCATCAGTAATCCTGTGATATAACACAGCACAATTATTTGCTAACTATAATCACACATTAAAATGATAGTTCACATTTGTCTTCTACACTGAAGACATTTTA
CTCACTTGCGATTGTTGATCAGATGCAGGCGCTCCCTGAGTTCCACTCCAAAAGTTCACTTGTAATCCAGTTATTAGTAACACGGAATGTTTTCCTCAACAAATCGTGTTGTATACACTGTATCATAAGGAATTCCAACCCAGCTACCCCCATCTTCACGGCACAATTTCTATGGTAACATACATTCCAAATTCCAGCTGGAAATAGATTCCTCTCTGCACCAGCAGTGATGGGAGGGGCATTGCAATGACTTAGAATTTTTGAAATACCAAATCTGGATGGAAATTTGAACTCATCCAGCACAACCGTTCATTCTTATGGTTTGAGATATCAAGAAACAGAGAGGATGAATCGCTTGACTTGTTTACTCTTTTTGTAATGCCCAAAGAGACAGACAAGAGCTGACATTCAGCCTGACCCGCTGGGCAGACTGTGTCCCGTGGTCCAGGGCTGGAAACGGGGCATCTTTTTCTGAAGGTGCCAAGCTATATACCTGTGGGGATAAATCTGCCCAGAGAAGAGGCCTTTTCTAGTTAGCACAAATGTGCTGTGCAGTTATGCCTGCCTGGAAATTTATATGAATTTAATGATGGTCTGGATGAGCCTGGCTCCCTCTGTTCAATGTTGCCTGTGAGATTCCTCCACTGTTGAATGCAGCTGTACTGTTCGTTTTCAATCCTGTATCGTATTCCATCGAATGAATGTGACACAATTTATCCATTCTTCTTTTCAAAGATATTTGGATTATTCCCAGTTTTATGGCATTAACATTCGTTTAGTTCTTAATGTTTCATGATTATAGAGACTATTGTGAGATTCAGGTCTTTTAAACACTTGAAGTTTGCAAGTGACTGCACCAGGCCCCATTTCTAGAGTTTCTGATTCAGTGGATATGGGACGGGGCCCCAACATGAACATTTCATTTTCTAGTAAATTCCAGGTGGTGGTGATGATGCCTGGCCTGAGGACCACCTCGGAAAAATCACTGCTGTACTGGAATTTCTCTTGGTGTTCTCATTTAGCGAATAAGACATGTTTCTTGCAGGTGGTGAAGATTCCTTTAGGGTAGGTATTTTTGGGTTACAGACTTAATTGTAAAAACTAGTCTTAACTGAAATTTCTGAACTAAAGAGAAATCAATACTGTAGCACACACACCGTTTAATATTGGATTCTGAGAGTTCAAAGGGCATGCTGTTTGCTCCCACATCGGGTCCATGTGGCCCTGACAAAGGCTGGGTTGTTCATATTTGACTGGGGCTGGGGAGGTGGAGGGATGGGAAGAGGAGGAGGGAAGGGAGGGCTGGCAGTTTTAAGAACTCTCAAGCCCACCTCTTACTACTGAGTGTGTGAAATGAGAGGAAGGCCAGCTCCTCTTGTCTAAAGCCCTCTCCCGTTCTCTCTGCTCCTCACTGTCTGAGACTCTGAAGGCTTGCTCAAAGTGAATCTGTCAAAAAATGAGTTTAACCACACTCTATCTGAAAGTGAATGTGATTTCTGTACAATATTAATGAATAAAAGTTTGTGTTTAGGTATTCTGTTTTATCTACTCAAAATATAAGTTTTTTTTCTCTTTAAGGAAAGATGAAGGTATCAAATAGAAGCCAGTGACGTTCCCTCTATGTTTCTGGTCACTAGTTCTCTCACAAAGCACAATTGAAGAGGTCTTTTCAGTGGAAAAGGTTATGATGAACATGGCAATGGCTCCCAAGTCATTTAGGGGGCCACTGGACCTTGATAGGATGCTCTTAACTTCGAATACGTTCTATACACTTTCCTCACTCACGCAGAACACTTAAACTTCCCAACTGAAGAGAAAACGAAAATGGTTTCAAAGTAATATACTCAAAGCCTTGATCTGTAGGTGGGTGGAGAAATGATGGTTTAAATGCTGCACTTCCTGTTCTACCTCCCACCCTTCCTAGACGCCGATGGCAAAGGTCAGAAACCAGCATTTTACCTGCTGGTGTGAGGATCAGGGCTTGCAGAATGTCCGACAGGGAAATAATACCCACAATACTATCTGCTTCATTTACCACCACCAGCCGACGGACCTGCAAAGAGAAAAGCAGGACACGTGAAAATTAACATTTAAAAAAGGTTTAAAATGGACATGAGAAATAATGTCCTGTCATGTTTTTATATGATCAACACATCCCTCCAGCCTGGGGAATAGCAGTGAGACATCATCTCTACAAAAACATTAGACAGTGGCTGGGTGTGCTGGTGTGCACCTGTGGTCCCAGTTACTTGGTGGGAGGATTGCTTGAGCCTGGGAAGTGGAGGTTGCAGTGGGCCAAGATCGCACCAGTGCACTCTAGCTTGGGTGACAGAGTGAGATCCTGTCTCAGAAAAAGAAAAAAGCAACACACACACACACATCCCATAAATGAATAAATGAGGGAAAGTAGCCACAGACAGACCCATACGATGACCTTAGGCTCTAATGTTCAATGTGTTACTGTCTGATTACCTGGAAGACCTACTCCGTATTAAAAAGTCACAGCCCTGGTGAAAAACAGGGACACAGGCATGAGAAGGAAAGAGGGGAAAGCTATCTATCTCCTGTCTCTAATGATACTGATTTGTCTCTAATTCAAGCTGATTTGCTTGCTTACTTTTAAGAAAAATGAGCTAGCTATGCCCTGCTGAGTTTTCAATTTTCAAAATATTAATATAGAAAAGATACAACTCAAACACGAAACACAACGTAGCTATCATACATTGTTAAACATAACTGTTTTAATTTCTAAAAGTTGTATATCAGTTTCTAATAACTATCAGGTACTTGTCTTATTAATACATGGGAGAGAAGTCCAGATGATGACAGAAACGAAGAAACAAGGTCGCAGCTCTTACAAGGGTTTTATTTTCTGCAGTGTCTTTTCTCTGTGAAGTTCATATATTAAGAATCGCATCCAAGAGGATAAATGAGCTATAATGAAGTGGGATAGACTACGTCCATCTCTAGTTTTCTACTCTGAAATCTCTGATGAGTGACGGCAGAGCGTTTTGAGGTGTTTCTGTAACAGGCCTTTCACCCGCAGGAAGGGAGCGGCGTTGCTATTCTCTTAAAAGCTTCATGATGGCCGGGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGAAGTGCTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTGTCTTAAAAAAAAAAAAAAAAAGGCTTTGGAACCTGGAGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGATCAAGTGCTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACCAAAACCACAAAAATTAGCTGGGCGTGGTGGTGCATTCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTTCAGAACCTGGGCCACGGCAGCTCTGTGCCGGCTGCGCCCTGGGAGACCCTCTCTGTATTGAACAGTGATACCCCTGATAGAAAACAGGGACATAGGAAGGAGATAGGAAGAGGGGGAAATCCAGTTTTTGTATTTTGTCTCAAATAATACTGTTTGGGTGATGTTTCTGTCATAGGTTGCTTTAGGTTAATAATAATAATAATAATAATGGCTTGGTCATCTTTCCCGTGGCAGTCAACATAAATTTCTTTTAAATGTTTCTCTAAAAAAGCTTTCAGGTTCATCAGTAATCCTGTGATATAACACAGCACAATTATTTGCTAACTATAATCACACATTAAAATGATAGTTCACATTTGTCTTCTACACTGAAGACATTTTA