ID
stringlengths 13
17
| question
stringlengths 88
1.13k
| answer
stringlengths 6
156
| reference_sequence
stringlengths 4.1k
4.1k
| variant_sequence
stringlengths 4.1k
4.1k
|
|---|---|---|---|---|
Task1_train_22700
|
Assess the clinical impact of this variant on gene BBS2 (Bardet-Biedl syndrome 2), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Bardet-Biedl syndrome 2
|
AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACATCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
|
AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACAGCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
|
Task1_train_22701
|
A change on Chromosome 16 affects gene BBS2 (Bardet-Biedl syndrome 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Retinitis pigmentosa 74
|
AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACATCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
|
AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACAGCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
|
Task1_train_22702
|
A genetic alteration is present in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Familial hypokalemia-hypomagnesemia
|
CCAGACCCTAACTCACCTCTTTCATCCCCTGACAGCTCAAATTTCCACCACTGCCTCCCTGCAATGGCTTAGGCACCTCTGGTAACAAGAGTGCTGCTCCCATGCCACCTGCATGCAAGGTGTGGCCTCAGAGTGCTGGCAAAATCGGGTCCTGATCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGTGGGAGGCTGAGGTAGGAGACTCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCATCCAGGGTCAGGTGGTTGGGGTGACTTGAGACCCCATCTCTACAAAAAGTAAAAACAAATTAGCCAAACATGATGGTGTATGCCTGTGGCCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTCTTGAAGTCTGGTGGTTGAGGCTTCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGAACCTGTCTCAAAAAAAAAAAAAAAATTATATAATTCATCTATTCAAAACTACTAAATAATTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACGATGGTGCGATCTGGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGATCCATCCACCTCAGCCTCCCAATATTAAATAAATTTTTTAAATCCAAATACTAATATGAGAGGTTTTTGAACTCTCATAGAGTAGGACCCAGAGTGTGTCCTCAGGCTAAGGGAGGACACCACCCCTCATATTGTCTTATGCCCAGTTTCTGCTTCCAAAGAAAGAAAAAGTAAAAATTAAAAGGCAGAAATGAAATCCACAAGCAGACAGCCCGGCGCCACACCCTGGGCCTGGTAGTTAAAGATCGAGCCCTGACCTAATCGGTTATGTAATCTATAGATTACAGACATTTTATAGAAATGCACTTTGAAAATCCCTGTCCTGTTTTGTTCCAATCTAATGATCGGTGCATGCAGCCCCCAGTCACGTACCCCCTGCTTGCTCAATCAATCACGACCCTCTCACATGCACCCCCTTAGAGTTGTGAGCCCTGAAAAGGGACAGGAATTGCTCACTCTGGGAGCTCGGCTCTTGAGACAGGAGTCTTGCCGATGCCCCCCGGCCGAATAAACCCCTTCCTTCTTTAAGTCGGTGTTTGAGGAGTTTTGACTGCAGCTCGTCCTGCTACAAAGCCACCAGGCTATCTCTAGGATCCCTTATGGGGCCCCTCAGGGTCCTCTCTGACAACTCCTTCTTGGGTCCTGGCTGAAGATCTCTGCTGCCCCCAGACTCAGAAGAGCCACTCCAGGACTCAGGGAGTGGCTGGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAGGTAAGTGCTGTCTCAGAAGACTGGCCACTTCCCTGCTGTGTGACCTCGACCCAGCTACCTAACCTCTCTGAGCCTCAGTTCTGTCATCTGTGCCATGGGGATGGAGGAGCGTCTTCTTCCTGGGTTGAGAGGCCCCAGTGAAATAGTGGAGCTGCAGAAATCTGGGCACATGTTGGAATGTATATTAGCCAATCACTAGCAACCCAAAGCTAGAGTGGGAGGCCTAGAGAGGTAATGAGCTTCCAGTGAGTAGAAGCATGCAAGCAGGTTGCACACCCCTGAAAGAGACAGGGCAAGAAGGGCCTGGGAAGGTTCACCTCAGAGAGAGGGCTCGCCGGGTTTGCTGCCCGGGAGGCTGGACTGTGAAGAGTGGAGGGCTGGAAGGTGGATTGTCATGACCCCTGTCTGGCCTCACTTTTCCCATATGACAATTGGGCTGAATTGTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAGCGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAAGGATCCACCCACCTTGGCCTCCCAACGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGC
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CCAGACCCTAACTCACCTCTTTCATCCCCTGACAGCTCAAATTTCCACCACTGCCTCCCTGCAATGGCTTAGGCACCTCTGGTAACAAGAGTGCTGCTCCCATGCCACCTGCATGCAAGGTGTGGCCTCAGAGTGCTGGCAAAATCGGGTCCTGATCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGTGGGAGGCTGAGGTAGGAGACTCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCATCCAGGGTCAGGTGGTTGGGGTGACTTGAGACCCCATCTCTACAAAAAGTAAAAACAAATTAGCCAAACATGATGGTGTATGCCTGTGGCCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTCTTGAAGTCTGGTGGTTGAGGCTTCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGAACCTGTCTCAAAAAAAAAAAAAAAATTATATAATTCATCTATTCAAAACTACTAAATAATTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACGATGGTGCGATCTGGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGATCCATCCACCTCAGCCTCCCAATATTAAATAAATTTTTTAAATCCAAATACTAATATGAGAGGTTTTTGAACTCTCATAGAGTAGGACCCAGAGTGTGTCCTCAGGCTAAGGGAGGACACCACCCCTCATATTGTCTTATGCCCAGTTTCTGCTTCCAAAGAAAGAAAAAGTAAAAATTAAAAGGCAGAAATGAAATCCACAAGCAGACAGCCCGGCGCCACACCCTGGGCCTGGTAGTTAAAGATCGAGCCCTGACCTAATCGGTTATGTAATCTATAGATTACAGACATTTTATAGAAATGCACTTTGAAAATCCCTGTCCTGTTTTGTTCCAATCTAATGATCGGTGCATGCAGCCCCCAGTCACGTACCCCCTGCTTGCTCAATCAATCACGACCCTCTCACATGCACCCCCTTAGAGTTGTGAGCCCTGAAAAGGGACAGGAATTGCTCACTCTGGGAGCTCGGCTCTTGAGACAGGAGTCTTGCCGATGCCCCCCGGCCGAATAAACCCCTTCCTTCTTTAAGTCGGTGTTTGAGGAGTTTTGACTGCAGCTCGTCCTGCTACAAAGCCACCAGGCTATCTCTAGGATCCCTTATGGGGCCCCTCAGGGTCCTCTCTGACAACTCCTTCTTGGGTCCTGGCTGAAGATCTCTGCTGCCCCCAGACTCAGAAGAGCCACTCCAGGACTCAGGGAGTGGCTGGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAGTGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAGGTAAGTGCTGTCTCAGAAGACTGGCCACTTCCCTGCTGTGTGACCTCGACCCAGCTACCTAACCTCTCTGAGCCTCAGTTCTGTCATCTGTGCCATGGGGATGGAGGAGCGTCTTCTTCCTGGGTTGAGAGGCCCCAGTGAAATAGTGGAGCTGCAGAAATCTGGGCACATGTTGGAATGTATATTAGCCAATCACTAGCAACCCAAAGCTAGAGTGGGAGGCCTAGAGAGGTAATGAGCTTCCAGTGAGTAGAAGCATGCAAGCAGGTTGCACACCCCTGAAAGAGACAGGGCAAGAAGGGCCTGGGAAGGTTCACCTCAGAGAGAGGGCTCGCCGGGTTTGCTGCCCGGGAGGCTGGACTGTGAAGAGTGGAGGGCTGGAAGGTGGATTGTCATGACCCCTGTCTGGCCTCACTTTTCCCATATGACAATTGGGCTGAATTGTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAGCGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAAGGATCCACCCACCTTGGCCTCCCAACGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGC
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Task1_train_22703
|
An alteration has been detected in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Familial hypokalemia-hypomagnesemia
|
ACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGTGGGAGGCTGAGGTAGGAGACTCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCATCCAGGGTCAGGTGGTTGGGGTGACTTGAGACCCCATCTCTACAAAAAGTAAAAACAAATTAGCCAAACATGATGGTGTATGCCTGTGGCCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTCTTGAAGTCTGGTGGTTGAGGCTTCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGAACCTGTCTCAAAAAAAAAAAAAAAATTATATAATTCATCTATTCAAAACTACTAAATAATTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACGATGGTGCGATCTGGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGATCCATCCACCTCAGCCTCCCAATATTAAATAAATTTTTTAAATCCAAATACTAATATGAGAGGTTTTTGAACTCTCATAGAGTAGGACCCAGAGTGTGTCCTCAGGCTAAGGGAGGACACCACCCCTCATATTGTCTTATGCCCAGTTTCTGCTTCCAAAGAAAGAAAAAGTAAAAATTAAAAGGCAGAAATGAAATCCACAAGCAGACAGCCCGGCGCCACACCCTGGGCCTGGTAGTTAAAGATCGAGCCCTGACCTAATCGGTTATGTAATCTATAGATTACAGACATTTTATAGAAATGCACTTTGAAAATCCCTGTCCTGTTTTGTTCCAATCTAATGATCGGTGCATGCAGCCCCCAGTCACGTACCCCCTGCTTGCTCAATCAATCACGACCCTCTCACATGCACCCCCTTAGAGTTGTGAGCCCTGAAAAGGGACAGGAATTGCTCACTCTGGGAGCTCGGCTCTTGAGACAGGAGTCTTGCCGATGCCCCCCGGCCGAATAAACCCCTTCCTTCTTTAAGTCGGTGTTTGAGGAGTTTTGACTGCAGCTCGTCCTGCTACAAAGCCACCAGGCTATCTCTAGGATCCCTTATGGGGCCCCTCAGGGTCCTCTCTGACAACTCCTTCTTGGGTCCTGGCTGAAGATCTCTGCTGCCCCCAGACTCAGAAGAGCCACTCCAGGACTCAGGGAGTGGCTGGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAGGTAAGTGCTGTCTCAGAAGACTGGCCACTTCCCTGCTGTGTGACCTCGACCCAGCTACCTAACCTCTCTGAGCCTCAGTTCTGTCATCTGTGCCATGGGGATGGAGGAGCGTCTTCTTCCTGGGTTGAGAGGCCCCAGTGAAATAGTGGAGCTGCAGAAATCTGGGCACATGTTGGAATGTATATTAGCCAATCACTAGCAACCCAAAGCTAGAGTGGGAGGCCTAGAGAGGTAATGAGCTTCCAGTGAGTAGAAGCATGCAAGCAGGTTGCACACCCCTGAAAGAGACAGGGCAAGAAGGGCCTGGGAAGGTTCACCTCAGAGAGAGGGCTCGCCGGGTTTGCTGCCCGGGAGGCTGGACTGTGAAGAGTGGAGGGCTGGAAGGTGGATTGTCATGACCCCTGTCTGGCCTCACTTTTCCCATATGACAATTGGGCTGAATTGTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAGCGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAAGGATCCACCCACCTTGGCCTCCCAACGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTG
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ACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGTGGGAGGCTGAGGTAGGAGACTCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCATCCAGGGTCAGGTGGTTGGGGTGACTTGAGACCCCATCTCTACAAAAAGTAAAAACAAATTAGCCAAACATGATGGTGTATGCCTGTGGCCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTCTTGAAGTCTGGTGGTTGAGGCTTCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGAACCTGTCTCAAAAAAAAAAAAAAAATTATATAATTCATCTATTCAAAACTACTAAATAATTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACGATGGTGCGATCTGGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGATCCATCCACCTCAGCCTCCCAATATTAAATAAATTTTTTAAATCCAAATACTAATATGAGAGGTTTTTGAACTCTCATAGAGTAGGACCCAGAGTGTGTCCTCAGGCTAAGGGAGGACACCACCCCTCATATTGTCTTATGCCCAGTTTCTGCTTCCAAAGAAAGAAAAAGTAAAAATTAAAAGGCAGAAATGAAATCCACAAGCAGACAGCCCGGCGCCACACCCTGGGCCTGGTAGTTAAAGATCGAGCCCTGACCTAATCGGTTATGTAATCTATAGATTACAGACATTTTATAGAAATGCACTTTGAAAATCCCTGTCCTGTTTTGTTCCAATCTAATGATCGGTGCATGCAGCCCCCAGTCACGTACCCCCTGCTTGCTCAATCAATCACGACCCTCTCACATGCACCCCCTTAGAGTTGTGAGCCCTGAAAAGGGACAGGAATTGCTCACTCTGGGAGCTCGGCTCTTGAGACAGGAGTCTTGCCGATGCCCCCCGGCCGAATAAACCCCTTCCTTCTTTAAGTCGGTGTTTGAGGAGTTTTGACTGCAGCTCGTCCTGCTACAAAGCCACCAGGCTATCTCTAGGATCCCTTATGGGGCCCCTCAGGGTCCTCTCTGACAACTCCTTCTTGGGTCCTGGCTGAAGATCTCTGCTGCCCCCAGACTCAGAAGAGCCACTCCAGGACTCAGGGAGTGGCTGGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACATGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAGGTAAGTGCTGTCTCAGAAGACTGGCCACTTCCCTGCTGTGTGACCTCGACCCAGCTACCTAACCTCTCTGAGCCTCAGTTCTGTCATCTGTGCCATGGGGATGGAGGAGCGTCTTCTTCCTGGGTTGAGAGGCCCCAGTGAAATAGTGGAGCTGCAGAAATCTGGGCACATGTTGGAATGTATATTAGCCAATCACTAGCAACCCAAAGCTAGAGTGGGAGGCCTAGAGAGGTAATGAGCTTCCAGTGAGTAGAAGCATGCAAGCAGGTTGCACACCCCTGAAAGAGACAGGGCAAGAAGGGCCTGGGAAGGTTCACCTCAGAGAGAGGGCTCGCCGGGTTTGCTGCCCGGGAGGCTGGACTGTGAAGAGTGGAGGGCTGGAAGGTGGATTGTCATGACCCCTGTCTGGCCTCACTTTTCCCATATGACAATTGGGCTGAATTGTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAGCGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAAGGATCCACCCACCTTGGCCTCCCAACGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTG
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Task1_train_22704
|
A genetic alteration is present in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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CCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGTGGGAGGCTGAGGTAGGAGACTCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCATCCAGGGTCAGGTGGTTGGGGTGACTTGAGACCCCATCTCTACAAAAAGTAAAAACAAATTAGCCAAACATGATGGTGTATGCCTGTGGCCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTCTTGAAGTCTGGTGGTTGAGGCTTCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGAACCTGTCTCAAAAAAAAAAAAAAAATTATATAATTCATCTATTCAAAACTACTAAATAATTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACGATGGTGCGATCTGGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGATCCATCCACCTCAGCCTCCCAATATTAAATAAATTTTTTAAATCCAAATACTAATATGAGAGGTTTTTGAACTCTCATAGAGTAGGACCCAGAGTGTGTCCTCAGGCTAAGGGAGGACACCACCCCTCATATTGTCTTATGCCCAGTTTCTGCTTCCAAAGAAAGAAAAAGTAAAAATTAAAAGGCAGAAATGAAATCCACAAGCAGACAGCCCGGCGCCACACCCTGGGCCTGGTAGTTAAAGATCGAGCCCTGACCTAATCGGTTATGTAATCTATAGATTACAGACATTTTATAGAAATGCACTTTGAAAATCCCTGTCCTGTTTTGTTCCAATCTAATGATCGGTGCATGCAGCCCCCAGTCACGTACCCCCTGCTTGCTCAATCAATCACGACCCTCTCACATGCACCCCCTTAGAGTTGTGAGCCCTGAAAAGGGACAGGAATTGCTCACTCTGGGAGCTCGGCTCTTGAGACAGGAGTCTTGCCGATGCCCCCCGGCCGAATAAACCCCTTCCTTCTTTAAGTCGGTGTTTGAGGAGTTTTGACTGCAGCTCGTCCTGCTACAAAGCCACCAGGCTATCTCTAGGATCCCTTATGGGGCCCCTCAGGGTCCTCTCTGACAACTCCTTCTTGGGTCCTGGCTGAAGATCTCTGCTGCCCCCAGACTCAGAAGAGCCACTCCAGGACTCAGGGAGTGGCTGGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAGGTAAGTGCTGTCTCAGAAGACTGGCCACTTCCCTGCTGTGTGACCTCGACCCAGCTACCTAACCTCTCTGAGCCTCAGTTCTGTCATCTGTGCCATGGGGATGGAGGAGCGTCTTCTTCCTGGGTTGAGAGGCCCCAGTGAAATAGTGGAGCTGCAGAAATCTGGGCACATGTTGGAATGTATATTAGCCAATCACTAGCAACCCAAAGCTAGAGTGGGAGGCCTAGAGAGGTAATGAGCTTCCAGTGAGTAGAAGCATGCAAGCAGGTTGCACACCCCTGAAAGAGACAGGGCAAGAAGGGCCTGGGAAGGTTCACCTCAGAGAGAGGGCTCGCCGGGTTTGCTGCCCGGGAGGCTGGACTGTGAAGAGTGGAGGGCTGGAAGGTGGATTGTCATGACCCCTGTCTGGCCTCACTTTTCCCATATGACAATTGGGCTGAATTGTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAGCGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAAGGATCCACCCACCTTGGCCTCCCAACGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTC
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CCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGTGGGAGGCTGAGGTAGGAGACTCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCATCCAGGGTCAGGTGGTTGGGGTGACTTGAGACCCCATCTCTACAAAAAGTAAAAACAAATTAGCCAAACATGATGGTGTATGCCTGTGGCCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTCTTGAAGTCTGGTGGTTGAGGCTTCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGAACCTGTCTCAAAAAAAAAAAAAAAATTATATAATTCATCTATTCAAAACTACTAAATAATTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACGATGGTGCGATCTGGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGATCCATCCACCTCAGCCTCCCAATATTAAATAAATTTTTTAAATCCAAATACTAATATGAGAGGTTTTTGAACTCTCATAGAGTAGGACCCAGAGTGTGTCCTCAGGCTAAGGGAGGACACCACCCCTCATATTGTCTTATGCCCAGTTTCTGCTTCCAAAGAAAGAAAAAGTAAAAATTAAAAGGCAGAAATGAAATCCACAAGCAGACAGCCCGGCGCCACACCCTGGGCCTGGTAGTTAAAGATCGAGCCCTGACCTAATCGGTTATGTAATCTATAGATTACAGACATTTTATAGAAATGCACTTTGAAAATCCCTGTCCTGTTTTGTTCCAATCTAATGATCGGTGCATGCAGCCCCCAGTCACGTACCCCCTGCTTGCTCAATCAATCACGACCCTCTCACATGCACCCCCTTAGAGTTGTGAGCCCTGAAAAGGGACAGGAATTGCTCACTCTGGGAGCTCGGCTCTTGAGACAGGAGTCTTGCCGATGCCCCCCGGCCGAATAAACCCCTTCCTTCTTTAAGTCGGTGTTTGAGGAGTTTTGACTGCAGCTCGTCCTGCTACAAAGCCACCAGGCTATCTCTAGGATCCCTTATGGGGCCCCTCAGGGTCCTCTCTGACAACTCCTTCTTGGGTCCTGGCTGAAGATCTCTGCTGCCCCCAGACTCAGAAGAGCCACTCCAGGACTCAGGGAGTGGCTGGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGGTGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAGGTAAGTGCTGTCTCAGAAGACTGGCCACTTCCCTGCTGTGTGACCTCGACCCAGCTACCTAACCTCTCTGAGCCTCAGTTCTGTCATCTGTGCCATGGGGATGGAGGAGCGTCTTCTTCCTGGGTTGAGAGGCCCCAGTGAAATAGTGGAGCTGCAGAAATCTGGGCACATGTTGGAATGTATATTAGCCAATCACTAGCAACCCAAAGCTAGAGTGGGAGGCCTAGAGAGGTAATGAGCTTCCAGTGAGTAGAAGCATGCAAGCAGGTTGCACACCCCTGAAAGAGACAGGGCAAGAAGGGCCTGGGAAGGTTCACCTCAGAGAGAGGGCTCGCCGGGTTTGCTGCCCGGGAGGCTGGACTGTGAAGAGTGGAGGGCTGGAAGGTGGATTGTCATGACCCCTGTCTGGCCTCACTTTTCCCATATGACAATTGGGCTGAATTGTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAGCGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAAGGATCCACCCACCTTGGCCTCCCAACGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTC
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Task1_train_22705
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A mutation found in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; not provided
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CCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGTGGGAGGCTGAGGTAGGAGACTCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCATCCAGGGTCAGGTGGTTGGGGTGACTTGAGACCCCATCTCTACAAAAAGTAAAAACAAATTAGCCAAACATGATGGTGTATGCCTGTGGCCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTCTTGAAGTCTGGTGGTTGAGGCTTCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGAACCTGTCTCAAAAAAAAAAAAAAAATTATATAATTCATCTATTCAAAACTACTAAATAATTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACGATGGTGCGATCTGGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGATCCATCCACCTCAGCCTCCCAATATTAAATAAATTTTTTAAATCCAAATACTAATATGAGAGGTTTTTGAACTCTCATAGAGTAGGACCCAGAGTGTGTCCTCAGGCTAAGGGAGGACACCACCCCTCATATTGTCTTATGCCCAGTTTCTGCTTCCAAAGAAAGAAAAAGTAAAAATTAAAAGGCAGAAATGAAATCCACAAGCAGACAGCCCGGCGCCACACCCTGGGCCTGGTAGTTAAAGATCGAGCCCTGACCTAATCGGTTATGTAATCTATAGATTACAGACATTTTATAGAAATGCACTTTGAAAATCCCTGTCCTGTTTTGTTCCAATCTAATGATCGGTGCATGCAGCCCCCAGTCACGTACCCCCTGCTTGCTCAATCAATCACGACCCTCTCACATGCACCCCCTTAGAGTTGTGAGCCCTGAAAAGGGACAGGAATTGCTCACTCTGGGAGCTCGGCTCTTGAGACAGGAGTCTTGCCGATGCCCCCCGGCCGAATAAACCCCTTCCTTCTTTAAGTCGGTGTTTGAGGAGTTTTGACTGCAGCTCGTCCTGCTACAAAGCCACCAGGCTATCTCTAGGATCCCTTATGGGGCCCCTCAGGGTCCTCTCTGACAACTCCTTCTTGGGTCCTGGCTGAAGATCTCTGCTGCCCCCAGACTCAGAAGAGCCACTCCAGGACTCAGGGAGTGGCTGGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGCACTCCTTCCTCAAGGTAAGTGCTGTCTCAGAAGACTGGCCACTTCCCTGCTGTGTGACCTCGACCCAGCTACCTAACCTCTCTGAGCCTCAGTTCTGTCATCTGTGCCATGGGGATGGAGGAGCGTCTTCTTCCTGGGTTGAGAGGCCCCAGTGAAATAGTGGAGCTGCAGAAATCTGGGCACATGTTGGAATGTATATTAGCCAATCACTAGCAACCCAAAGCTAGAGTGGGAGGCCTAGAGAGGTAATGAGCTTCCAGTGAGTAGAAGCATGCAAGCAGGTTGCACACCCCTGAAAGAGACAGGGCAAGAAGGGCCTGGGAAGGTTCACCTCAGAGAGAGGGCTCGCCGGGTTTGCTGCCCGGGAGGCTGGACTGTGAAGAGTGGAGGGCTGGAAGGTGGATTGTCATGACCCCTGTCTGGCCTCACTTTTCCCATATGACAATTGGGCTGAATTGTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAGCGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAAGGATCCACCCACCTTGGCCTCCCAACGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTCTCCTCCATGAAGGGAAGGAAAAGGTTTGCTATAGTGAGGAGCAGGATTAAGTTTCCAGACAGTAGACAATCAAGGACACTTGG
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CCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCGCCTGGTCCCAGGCCCCAGGGCTTGTCAGTCTATTGGTGGATATGGATTACAATTCTGACCTGCTGAGCTCTGGTTTGGAGTTACTTGTAGATGTCTCTGGAGGTACACATAGACATTGGGAGACAGGTTGGAGCTAGAGAGACTAATGTGTGTGTGTGTGTGAGAGTGTGTGTGTGTGTGTGTGTATATATACACATCTTTTTAAATATTATACCAGCTAAGCGCAGTGGCTCACGCCTGCAATCCCAACACTTTGGGAGGTGGGAGGCTGAGGTAGGAGACTCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCATCCAGGGTCAGGTGGTTGGGGTGACTTGAGACCCCATCTCTACAAAAAGTAAAAACAAATTAGCCAAACATGATGGTGTATGCCTGTGGCCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTCTTGAAGTCTGGTGGTTGAGGCTTCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGAACCTGTCTCAAAAAAAAAAAAAAAATTATATAATTCATCTATTCAAAACTACTAAATAATTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACGATGGTGCGATCTGGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGATCCATCCACCTCAGCCTCCCAATATTAAATAAATTTTTTAAATCCAAATACTAATATGAGAGGTTTTTGAACTCTCATAGAGTAGGACCCAGAGTGTGTCCTCAGGCTAAGGGAGGACACCACCCCTCATATTGTCTTATGCCCAGTTTCTGCTTCCAAAGAAAGAAAAAGTAAAAATTAAAAGGCAGAAATGAAATCCACAAGCAGACAGCCCGGCGCCACACCCTGGGCCTGGTAGTTAAAGATCGAGCCCTGACCTAATCGGTTATGTAATCTATAGATTACAGACATTTTATAGAAATGCACTTTGAAAATCCCTGTCCTGTTTTGTTCCAATCTAATGATCGGTGCATGCAGCCCCCAGTCACGTACCCCCTGCTTGCTCAATCAATCACGACCCTCTCACATGCACCCCCTTAGAGTTGTGAGCCCTGAAAAGGGACAGGAATTGCTCACTCTGGGAGCTCGGCTCTTGAGACAGGAGTCTTGCCGATGCCCCCCGGCCGAATAAACCCCTTCCTTCTTTAAGTCGGTGTTTGAGGAGTTTTGACTGCAGCTCGTCCTGCTACAAAGCCACCAGGCTATCTCTAGGATCCCTTATGGGGCCCCTCAGGGTCCTCTCTGACAACTCCTTCTTGGGTCCTGGCTGAAGATCTCTGCTGCCCCCAGACTCAGAAGAGCCACTCCAGGACTCAGGGAGTGGCTGGCTTTGGGCCAGCCCAGCCCTCCAGATCCAAGGCGGGTCCCCTATCTCCACAATCAAATGGTGTTCTGCCTCCGGCCCTGTCCGGGGACCCTGCTCACCAGCCACGGGCGGTTTAGGCCAACCTCCCTGCCTCCTCCCCAGTGCAGACGCAGCCTATAAAACCACCCTGTGTGTCCTTGCGGATCCTGGCCCCTCCCTGGACACCCAGGCGACAATGGCAGAACTGCCCACAACAGAGACGCCTGGGGACGCCACTTTGTGCAGCGGGCGCTTCACCATCAGCACACTGCTGAGCAGTGATGAGCCCTCTCCACCAGCTGCCTATGACAGCAGCCACCCCAGCCACCTGACCCACAGCAGCACCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTATGCCAACAGCACCCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGTACTCCTTCCTCAAGGTAAGTGCTGTCTCAGAAGACTGGCCACTTCCCTGCTGTGTGACCTCGACCCAGCTACCTAACCTCTCTGAGCCTCAGTTCTGTCATCTGTGCCATGGGGATGGAGGAGCGTCTTCTTCCTGGGTTGAGAGGCCCCAGTGAAATAGTGGAGCTGCAGAAATCTGGGCACATGTTGGAATGTATATTAGCCAATCACTAGCAACCCAAAGCTAGAGTGGGAGGCCTAGAGAGGTAATGAGCTTCCAGTGAGTAGAAGCATGCAAGCAGGTTGCACACCCCTGAAAGAGACAGGGCAAGAAGGGCCTGGGAAGGTTCACCTCAGAGAGAGGGCTCGCCGGGTTTGCTGCCCGGGAGGCTGGACTGTGAAGAGTGGAGGGCTGGAAGGTGGATTGTCATGACCCCTGTCTGGCCTCACTTTTCCCATATGACAATTGGGCTGAATTGTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAGCGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAAGGATCCACCCACCTTGGCCTCCCAACGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTCTCCTCCATGAAGGGAAGGAAAAGGTTTGCTATAGTGAGGAGCAGGATTAAGTTTCCAGACAGTAGACAATCAAGGACACTTGG
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Task1_train_22706
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The following genetic variant occurs in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Familial hypokalemia-hypomagnesemia
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CTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTCTCCTCCATGAAGGGAAGGAAAAGGTTTGCTATAGTGAGGAGCAGGATTAAGTTTCCAGACAGTAGACAATCAAGGACACTTGGCTTTGGAGACATTATGGGACTTTACAGAGGGGATCTTATGGGATGTAGAAGGCTTTAGCCCTGCTCCGGGAGGCAGGAGGCTGGGGTTCTGATCTTAACGCTGCCAACTGGCTGTGCCTCCGTTTCTCCATCTGAACCACGAGCCCTCCCCGACCCCCAGATGCTCTTATTCAGAGCTGGGATCTCCCTCCTGGGCTGTGTTGCCAGAGCCGGGAACGGCCCTGCAACTCAGTGGGGCCAGCGACCACACCAGCCCCTCCCACCTGGAAGCTTCAGCCTCCATCTCGGCCTCTGGCTTTGCTTTAAATTTGGAAGCTGAAGTCACAGCCACCTGAGCTCTGATATCTGCTCTTACATGGGGCGCTGGCTCACCTGGCATTTGCTGAGCTCCCTGTAAATGCCAGGCTCTGGATCAACTGCTGACCACTGGGGCCATGGTCGGGGCTGGCAGACACAGGATCCTGGGCTTGGGATGGATACAGTGAGGGCTAACAGTGCTGGTAGCCTAGCGTCAGGACTCAACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAG
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CTGGAATTACAGGCATGAGCCACCACGCCCAGCCCAGAATTGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTCTCCTCCATGAAGGGAAGGAAAAGGTTTGCTATAGTGAGGAGCAGGATTAAGTTTCCAGACAGTAGACAATCAAGGACACTTGGCTTTGGAGACATTATGGGACTTTACAGAGGGGATCTTATGGGATGTAGAAGGCTTTAGCCCTGCTCCGGGAGGCAGGAGGCTGGGGTTCTGATCTTAACGCTGCCAACTGGCTGTGCCTCCGTTTCTCCATCTGAACCACGAGCCCTCCCCGACCCCCAGATGCTCTTATTCAGAGCTGGGATCTCCCTCCTGGGCTGTGTTGCCAGAGCCGGGAACGGCCCTGCAACTCAGTGGGGCCAGCGACCACACCAGCCCCTCCCACCTGGAAGCTTCAGCCTCCATCTCGGCCTCTGGCTTTGCTTTAAATTTGGAAGCTGAAGTCACAGCCACCTGAGCTCTGATATCTGCTCTTACATGGGGCGCTGGCTCACCTGGCATTTGCTGAGCTCCCTGTAAATGCCAGGCTCTGGATCAACTGCTGACCACTGGGGCCATGGTCGGGGCTGGCAGACACAGGATCCTGGGCTTGGGATGGATACAGTGAGGGCTAACAGTGCTGGTAGCCTAGCGTCAGGACTCAACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTTGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAG
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Task1_train_22707
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This variant affects the gene SLC12A3 (solute carrier family 12 member 3) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Familial hypokalemia-hypomagnesemia
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TGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTCTCCTCCATGAAGGGAAGGAAAAGGTTTGCTATAGTGAGGAGCAGGATTAAGTTTCCAGACAGTAGACAATCAAGGACACTTGGCTTTGGAGACATTATGGGACTTTACAGAGGGGATCTTATGGGATGTAGAAGGCTTTAGCCCTGCTCCGGGAGGCAGGAGGCTGGGGTTCTGATCTTAACGCTGCCAACTGGCTGTGCCTCCGTTTCTCCATCTGAACCACGAGCCCTCCCCGACCCCCAGATGCTCTTATTCAGAGCTGGGATCTCCCTCCTGGGCTGTGTTGCCAGAGCCGGGAACGGCCCTGCAACTCAGTGGGGCCAGCGACCACACCAGCCCCTCCCACCTGGAAGCTTCAGCCTCCATCTCGGCCTCTGGCTTTGCTTTAAATTTGGAAGCTGAAGTCACAGCCACCTGAGCTCTGATATCTGCTCTTACATGGGGCGCTGGCTCACCTGGCATTTGCTGAGCTCCCTGTAAATGCCAGGCTCTGGATCAACTGCTGACCACTGGGGCCATGGTCGGGGCTGGCAGACACAGGATCCTGGGCTTGGGATGGATACAGTGAGGGCTAACAGTGCTGGTAGCCTAGCGTCAGGACTCAACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTC
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TGTTCTTGATTCTGAGGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTCTCCTCCATGAAGGGAAGGAAAAGGTTTGCTATAGTGAGGAGCAGGATTAAGTTTCCAGACAGTAGACAATCAAGGACACTTGGCTTTGGAGACATTATGGGACTTTACAGAGGGGATCTTATGGGATGTAGAAGGCTTTAGCCCTGCTCCGGGAGGCAGGAGGCTGGGGTTCTGATCTTAACGCTGCCAACTGGCTGTGCCTCCGTTTCTCCATCTGAACCACGAGCCCTCCCCGACCCCCAGATGCTCTTATTCAGAGCTGGGATCTCCCTCCTGGGCTGTGTTGCCAGAGCCGGGAACGGCCCTGCAACTCAGTGGGGCCAGCGACCACACCAGCCCCTCCCACCTGGAAGCTTCAGCCTCCATCTCGGCCTCTGGCTTTGCTTTAAATTTGGAAGCTGAAGTCACAGCCACCTGAGCTCTGATATCTGCTCTTACATGGGGCGCTGGCTCACCTGGCATTTGCTGAGCTCCCTGTAAATGCCAGGCTCTGGATCAACTGCTGACCACTGGGGCCATGGTCGGGGCTGGCAGACACAGGATCCTGGGCTTGGGATGGATACAGTGAGGGCTAACAGTGCTGGTAGCCTAGCGTCAGGACTCAACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCAGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTC
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Task1_train_22708
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This gene mutation involves SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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GGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTCTCCTCCATGAAGGGAAGGAAAAGGTTTGCTATAGTGAGGAGCAGGATTAAGTTTCCAGACAGTAGACAATCAAGGACACTTGGCTTTGGAGACATTATGGGACTTTACAGAGGGGATCTTATGGGATGTAGAAGGCTTTAGCCCTGCTCCGGGAGGCAGGAGGCTGGGGTTCTGATCTTAACGCTGCCAACTGGCTGTGCCTCCGTTTCTCCATCTGAACCACGAGCCCTCCCCGACCCCCAGATGCTCTTATTCAGAGCTGGGATCTCCCTCCTGGGCTGTGTTGCCAGAGCCGGGAACGGCCCTGCAACTCAGTGGGGCCAGCGACCACACCAGCCCCTCCCACCTGGAAGCTTCAGCCTCCATCTCGGCCTCTGGCTTTGCTTTAAATTTGGAAGCTGAAGTCACAGCCACCTGAGCTCTGATATCTGCTCTTACATGGGGCGCTGGCTCACCTGGCATTTGCTGAGCTCCCTGTAAATGCCAGGCTCTGGATCAACTGCTGACCACTGGGGCCATGGTCGGGGCTGGCAGACACAGGATCCTGGGCTTGGGATGGATACAGTGAGGGCTAACAGTGCTGGTAGCCTAGCGTCAGGACTCAACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCA
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GGCTAAGACTTACTAAATTCGCAGGCCTTTTCTCCACCCCAGAGCAAACCAAGACATGGCCCTTGGCTCCATACTGAGATGAAGTGCCAGGAAGAAAGCCCCAGAGGAGGGCGTCAGTCACTTGGGGCACAAACTAGGAGACCTCCCAGTGCCCCAGAGGTAGAGGCCTGGTTTCAAGACCCAGCCCTCCAGGGACCAACTATGTGGCCTTGGACAAGCTTTCACCTCTCCAGGGTGATAATAATCCTGTCGCCCATTACAAGGCTAGGCAACTGCCTAATCACTTCTAAGGCCACTGCTCTCCTAGGGGGAGGAGGTGTTATGAGCAGGAGCGCCCAGGACTCCCAGTCTCCCATGGCATCTGATCTTGGATCACTGCAACCTCCACCTCCTGGCTTCAAGAGATCCTCCTATGTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTCTTAGTAGAGACAGGGTTTTACCTTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAAGCAATCCACCCACCTTGGCCTCCCAAAGTGCTTTTACTACAGGCGTGAGCCACTGCTCCTGGCCTAGGGAGCATTTTAAAAGCCCCTCAAGCAGCTCAACACCCAGTGGGCTGAGGGGTCGGGGGGTGCTCGGTATGGGGCGCAGTGGTGCAGGTCAGTGGGCTGGATGCAGAGACGCCGTCCCTAGCACCCCTACCTGCCTGACTTGTGGTCTCTGGGCTGCCAGCAGGAAGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCAGCCACGAGATGACTGATGGGCTGGTGGAGGGCGAGGCAGGCACCAGCAGCGAGAAGAACCCCGAGGAGCCAGTGCGCTTCGGCTGGGTCAAGGGGGTGATGGTGAGTGGGGTGTGGGTGGTGCGTGATGTCCAGAAATGGGGGTGGGGTGGCAGAGCTCCATCCAGGCTCAGCTCTGACTCTCAGGCCCTGGTGGGGCTTCAGTTTCCCCATCTGTACAATGAATTCAATGAGTTAATAGATCAATAGACAATAGATTAAAGCCTGCCGGGGAGTAATTAGAAGAAACTGTGTTTCCCTAAAAAGCCACCAGGGGGCTGCACTAAACACACAAATCCGTAAATGTGTTTTTCTCCTCCATGAAGGGAAGGAAAAGGTTTGCTATAGTGAGGAGCAGGATTAAGTTTCCAGACAGTAGACAATCAAGGACACTTGGCTTTGGAGACATTATGGGACTTTACAGAGGGGATCTTATGGGATGTAGAAGGCTTTAGCCCTGCTCCGGGAGGCAGGAGGCTGGGGTTCTGATCTTAACGCTGCCAACTGGCTGTGCCTCCGTTTCTCCATCTGAACCACGAGCCCTCCCCGACCCCCAGATGCTCTTATTCAGAGCTGGGATCTCCCTCCTGGGCTGTGTTGCCAGAGCCGGGAACGGCCCTGCAACTCAGTGGGGCCAGCGACCACACCAGCCCCTCCCACCTGGAAGCTTCAGCCTCCATCTCGGCCTCTGGCTTTGCTTTAAATTTGGAAGCTGAAGTCACAGCCACCTGAGCTCTGATATCTGCTCTTACATGGGGCGCTGGCTCACCTGGCATTTGCTGAGCTCCCTGTAAATGCCAGGCTCTGGATCAACTGCTGACCACTGGGGCCATGGTCGGGGCTGGCAGACACAGGATCCTGGGCTTGGGATGGATACAGTGAGGGCTAACAGTGCTGGTAGCCTAGCGTCAGGACTCAACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTATGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCA
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Task1_train_22709
|
A genetic alteration is present in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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AACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGC
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AACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCTGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGC
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Task1_train_22710
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A variant on Chromosome 16 in gene SLC12A3 (solute carrier family 12 member 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCT
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ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCAGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCT
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Task1_train_22711
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This alteration in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; SLC12A3-related disorder
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ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCT
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ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCAGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCT
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Task1_train_22712
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Mutation context: Chromosome 16, Gene SLC12A3 (solute carrier family 12 member 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Inborn genetic diseases
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ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCT
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ACGGGAGGGTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCAGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCT
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Task1_train_22713
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A sequence alteration has been identified in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it disease-inducing or harmless?
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Pathogenic; not provided
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GTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGT
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GTGGGAAAATAGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGAGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGT
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Task1_train_22714
|
Here is a genetic alteration in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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AGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACT
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AGGTGGGAGGGATAGGTGGGTCTCTGGGTGCCTCTCACCCTCTTGCCCCATAGAACCAGACTCGGAACCTACTGAAGTGGGTGAAGAAGGGACCCAGGTGTCCCTAGGGCCTAGGTGCTCGATACCCTGCCATAGCAAGGGACAGGGACTTGTCGTTTGGCCTTGGGGTGTCCACCCAGGTGGCCTCTGACCCCCCTGTCCTCCCAGATTCGTTGCATGCTCAACATTTGGGGCGTGATCCTCTACCTGCGGCTGCCCTGGATTACGGCCCAGGCAGGCATCGGTGAGTGCCCCTCTGGGGAAGAGGAGGGAGGGCTTGCCTGAATCCCATTCTTCCCAGCTTGCCTGAATCCTGTTCTTCCCAGACCCCAAGGTTGCAGGATTAAACTTGAGGTGCAGAGACCAAACGGCCAGGCCTTCTCCTCCCTGGTTCAGTCTCAGGCCCCTGCAGTGACAGGGGTCAGGGTGGTGTGGCAGAGGCACGCTGGACATGGGGTCAGCAGGCCTAAGGGCTATTTGCCCTCAGTAAGCCACTTAACCTCTCAGAGCCCATTTCTACCTCAAAGCGTGCAGGTTAGAAAGCTGCACTCTGGCCGGGCACGGTGGCTCACGCTTTGGGAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATTAAAAAATTGGCCAGGCGTGGTTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAGAATTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGTGTGAAACTCCATCTCAAAAAAAATAAAAAATAAAAAAGAAAGCTGCATTCTGGACAGAACAGGACTCAGATGCTAGCTCTGTAGCCTGCTATGTGACTTTGGGCAAGTTTCTTAACCTCTCTGAGCCTTGGATTCCTCATTAGGAAAATGAGGGTGATAACAGAACCTACCTCATGGAACCGTTGTGGCTTTTACAGGATGCAAGTAAAAACACAGCGCAGATTTGGCTCCCAGAGGTGATCACGGAGTGGTAACTGCTACTTTATTTTTTATTATTAAACGAGGGTAGCTTCCCCTCCATACCTAACAATCCAATAAATGCTGGCTCAAGGGCTCACTGGCTATTCAGAGTATGACAGGAGGTAGACAGAGACCCATTTTTTTTTTGAGACGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTCGCGTGGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCATGTGCCAGCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTATGATCTGCCCGCCTCGGCCTCCCAAAGTGACAGAGACCCATTTTTCAGATGAGAAAACTGAAGCTCAGAGAAGGGAGATGAACGTAGGTCGCATGGTGAATGAGTAGGCAAACTGGGGCTCCTCCCTTGGGAAATGCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGGTCACGGTGACCTCCATCACAGGCCTCTCCATCTCAGCCATCTCCACCAATGGCAAGGTCAAGTCAGGTGGGCCATCCCCCTTTCCACCAAGGCCCTCCTCTCGTGGGCTCCTAATCCTGGGAACAGGACTCCCAACTTCCCCAACCCAATGGTACACCCAGCCGCTCCTGTGGTTCCGGGAGAGGGCTCTAGGCAGGCTGTCTACACCACGAGATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTGTGGCCACCCTCTCCTGGCCTCTGCCTGCCCTGAGTCCACCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCCTGGGGGCTCCATCGGCCTCATTTTCGCTTTCGCCAATGCCGTGGGTGTGGCCATGCACACGGTGGGCTTTGCAGAGACCGTGCGGGACCTGCTCCAGGTGAGGCCGGGGGGCTGGACCCTGGGTAGAGGGATCCGGGCAGCCCATTGCACTCTCCTCCGCCCCATCTGGGCTGGGGCCTCCTGCTGCTCTGCCTGACTTCACCCATCAGGAACCACAGCCTGATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACT
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Task1_train_22715
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This variant impacts the gene SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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GATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACTGCTATATTCCCAACTCCTTGAACAGATCCTGCTGCATAATGGGTGTTGAATGAATGAGTGAGTGAATAATGGAGAAACGGGCCCTGGGCAAATCATTTTCTGGCGGGGCTTCCCAGAGAGGTAGAACAAAACTATCTGACCTCTGGGGTCCTTCGCCCCCTCCAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTATTTAGTGGGGACGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTACCGGGGTATGTGCTGATCAAGGCCCTGACCATGGCTCTGGGGACAGGGACTCTCTACCCAGGAATCTGGCCCATTGTGTGGACACTGGGAGGATGGGATTACCCAATCCCATGGTCAGGGGCTGCCTGCCCAGTGGGTCCCAGCAAGGGGGGTCAAGCCCTCCAGGTGAGCCTTACTCATCAGGCCTTGCTTTTCCAGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATATCTGGTGACCTCAAGGTGAGCAGAATACTTGCCCCTCCTGTGTCCTGGCACTGCACAGGGGCTATGAGCAGAATCCTGCCCCCTGCTCTAGTGGCATCTGCCGCTGACCTGGGAGGCAGGGCTTCTAAAATCCAGTCCAGTCCAACTCAGCTCAGTTCAACCCAATCCAACCGATTCCATTCCGTTCTGAGGTTGTTTATGAAGACCAGCTGCGTTCTAGGCTTGAGGGACACCACAGAATGGCTAGGTTCCTCCCTAGTTCCCAGAACTCTCAGCCTTAGGGGAAGACTGGCCCAGCTGTGACCTTAAGAGCCCAGCCTTGCTCATGCACATCTTTGCTGGGCTGACATCCTCCCAGGGCTCCCCACTGCCTTGCTGCAGGCAGGCTTCTTGGCTTGGCATTCAAGGCTCCAGCCTGCCTGTCTAGCCTCATCCCTGACCAGTGCCACCCTTCCCATGAGCCTGCTGCAGCCCTGAGGCTCTACTGCTTTGCCCGTGTTACCTCGTCCCTCCTCCACGCCTTTGCCTGTGCTGCGCTCTCTACCTGCAACTCCGTACGCTTGCTTTTTTACCCTGAAAGTCTGTTCTGTTTCTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCGCACCCGGTTAATATTTGTATTTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATTCGCCTGGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACCATGCCTAGCCTCTTTTATTTATTTTATTTTATTTTTTTTTTTTTGAGATGAAGTCTCGGTCTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGTTGAGACTACAGGCACCTGCCACCACGCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAAGTGATCCACCCGATTTGTCTTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTTCTCCTGGCCTGTTTCTCTTTCAAATACCGCCTTCAACTATCATCTCTCCCAGCCCTTCCATCAGAGTCATGGTTCCCCAGCATAATGATGTTGGGCCAAACGCGTATCTGTTGCCCCGGCATCTGGAGAACGGAGACTTGCCTCTGTCTCCCTATTCCCTCCCAGCTCAGAGCCTGGCACATACTAGGTGCTCTGTACATGTTTGTTGACTGAATCATGGTGAAATGCAGTGTTTGAGCAGTAGCACAAAGTGCTGCACCAGCAGGGAGAAGGAGAGACTGATGTTGGCAGGGGTTCCAGCAGAATTTCTGGGTGCAGGAGGCGCCAGAGCTGGGCTTTGAAAGGTGACAAGCTGGCAGAACCTTTGCTCAAGGGAGGTGGCAGGCAAGAGGGGGTGATGAATGGGGAGCTAGCCCCACACTGGAAATCACAGCTAACCCCTACCCCAAACCT
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GATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACTGCTATATTCCCAACTCCTTGAACAGATCCTGCTGCATAATGGGTGTTGAATGAATGAGTGAGTGAATAATGGAGAAACGGGCCCTGGGCAAATCATTTTCTGGCGGGGCTTCCCAGAGAGGTAGAACAAAACTATCTGACCTCTGGGGTCCTTCGCCCCCTCCAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTATTTAGTGGGGCCGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTACCGGGGTATGTGCTGATCAAGGCCCTGACCATGGCTCTGGGGACAGGGACTCTCTACCCAGGAATCTGGCCCATTGTGTGGACACTGGGAGGATGGGATTACCCAATCCCATGGTCAGGGGCTGCCTGCCCAGTGGGTCCCAGCAAGGGGGGTCAAGCCCTCCAGGTGAGCCTTACTCATCAGGCCTTGCTTTTCCAGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATATCTGGTGACCTCAAGGTGAGCAGAATACTTGCCCCTCCTGTGTCCTGGCACTGCACAGGGGCTATGAGCAGAATCCTGCCCCCTGCTCTAGTGGCATCTGCCGCTGACCTGGGAGGCAGGGCTTCTAAAATCCAGTCCAGTCCAACTCAGCTCAGTTCAACCCAATCCAACCGATTCCATTCCGTTCTGAGGTTGTTTATGAAGACCAGCTGCGTTCTAGGCTTGAGGGACACCACAGAATGGCTAGGTTCCTCCCTAGTTCCCAGAACTCTCAGCCTTAGGGGAAGACTGGCCCAGCTGTGACCTTAAGAGCCCAGCCTTGCTCATGCACATCTTTGCTGGGCTGACATCCTCCCAGGGCTCCCCACTGCCTTGCTGCAGGCAGGCTTCTTGGCTTGGCATTCAAGGCTCCAGCCTGCCTGTCTAGCCTCATCCCTGACCAGTGCCACCCTTCCCATGAGCCTGCTGCAGCCCTGAGGCTCTACTGCTTTGCCCGTGTTACCTCGTCCCTCCTCCACGCCTTTGCCTGTGCTGCGCTCTCTACCTGCAACTCCGTACGCTTGCTTTTTTACCCTGAAAGTCTGTTCTGTTTCTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCGCACCCGGTTAATATTTGTATTTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATTCGCCTGGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACCATGCCTAGCCTCTTTTATTTATTTTATTTTATTTTTTTTTTTTTGAGATGAAGTCTCGGTCTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGTTGAGACTACAGGCACCTGCCACCACGCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAAGTGATCCACCCGATTTGTCTTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTTCTCCTGGCCTGTTTCTCTTTCAAATACCGCCTTCAACTATCATCTCTCCCAGCCCTTCCATCAGAGTCATGGTTCCCCAGCATAATGATGTTGGGCCAAACGCGTATCTGTTGCCCCGGCATCTGGAGAACGGAGACTTGCCTCTGTCTCCCTATTCCCTCCCAGCTCAGAGCCTGGCACATACTAGGTGCTCTGTACATGTTTGTTGACTGAATCATGGTGAAATGCAGTGTTTGAGCAGTAGCACAAAGTGCTGCACCAGCAGGGAGAAGGAGAGACTGATGTTGGCAGGGGTTCCAGCAGAATTTCTGGGTGCAGGAGGCGCCAGAGCTGGGCTTTGAAAGGTGACAAGCTGGCAGAACCTTTGCTCAAGGGAGGTGGCAGGCAAGAGGGGGTGATGAATGGGGAGCTAGCCCCACACTGGAAATCACAGCTAACCCCTACCCCAAACCT
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Task1_train_22716
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The gene SLC12A3 (solute carrier family 12 member 3) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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ATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACTGCTATATTCCCAACTCCTTGAACAGATCCTGCTGCATAATGGGTGTTGAATGAATGAGTGAGTGAATAATGGAGAAACGGGCCCTGGGCAAATCATTTTCTGGCGGGGCTTCCCAGAGAGGTAGAACAAAACTATCTGACCTCTGGGGTCCTTCGCCCCCTCCAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTATTTAGTGGGGACGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTACCGGGGTATGTGCTGATCAAGGCCCTGACCATGGCTCTGGGGACAGGGACTCTCTACCCAGGAATCTGGCCCATTGTGTGGACACTGGGAGGATGGGATTACCCAATCCCATGGTCAGGGGCTGCCTGCCCAGTGGGTCCCAGCAAGGGGGGTCAAGCCCTCCAGGTGAGCCTTACTCATCAGGCCTTGCTTTTCCAGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATATCTGGTGACCTCAAGGTGAGCAGAATACTTGCCCCTCCTGTGTCCTGGCACTGCACAGGGGCTATGAGCAGAATCCTGCCCCCTGCTCTAGTGGCATCTGCCGCTGACCTGGGAGGCAGGGCTTCTAAAATCCAGTCCAGTCCAACTCAGCTCAGTTCAACCCAATCCAACCGATTCCATTCCGTTCTGAGGTTGTTTATGAAGACCAGCTGCGTTCTAGGCTTGAGGGACACCACAGAATGGCTAGGTTCCTCCCTAGTTCCCAGAACTCTCAGCCTTAGGGGAAGACTGGCCCAGCTGTGACCTTAAGAGCCCAGCCTTGCTCATGCACATCTTTGCTGGGCTGACATCCTCCCAGGGCTCCCCACTGCCTTGCTGCAGGCAGGCTTCTTGGCTTGGCATTCAAGGCTCCAGCCTGCCTGTCTAGCCTCATCCCTGACCAGTGCCACCCTTCCCATGAGCCTGCTGCAGCCCTGAGGCTCTACTGCTTTGCCCGTGTTACCTCGTCCCTCCTCCACGCCTTTGCCTGTGCTGCGCTCTCTACCTGCAACTCCGTACGCTTGCTTTTTTACCCTGAAAGTCTGTTCTGTTTCTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCGCACCCGGTTAATATTTGTATTTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATTCGCCTGGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACCATGCCTAGCCTCTTTTATTTATTTTATTTTATTTTTTTTTTTTTGAGATGAAGTCTCGGTCTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGTTGAGACTACAGGCACCTGCCACCACGCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAAGTGATCCACCCGATTTGTCTTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTTCTCCTGGCCTGTTTCTCTTTCAAATACCGCCTTCAACTATCATCTCTCCCAGCCCTTCCATCAGAGTCATGGTTCCCCAGCATAATGATGTTGGGCCAAACGCGTATCTGTTGCCCCGGCATCTGGAGAACGGAGACTTGCCTCTGTCTCCCTATTCCCTCCCAGCTCAGAGCCTGGCACATACTAGGTGCTCTGTACATGTTTGTTGACTGAATCATGGTGAAATGCAGTGTTTGAGCAGTAGCACAAAGTGCTGCACCAGCAGGGAGAAGGAGAGACTGATGTTGGCAGGGGTTCCAGCAGAATTTCTGGGTGCAGGAGGCGCCAGAGCTGGGCTTTGAAAGGTGACAAGCTGGCAGAACCTTTGCTCAAGGGAGGTGGCAGGCAAGAGGGGGTGATGAATGGGGAGCTAGCCCCACACTGGAAATCACAGCTAACCCCTACCCCAAACCTC
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ATCACTGTGGGTGAGAGTGACAATCTCATCAAATAAAGGCCATTGCTTTCCCACAAGTCCCCTTTGGGGGTGTGTGTGGCCTTTAGAGCCACACTGTCCAGGCCCGTGCAGCAGCTGCTTTGGGGACTCGATGGCAGGGGTGGTGCTTGAGTTAACATCGTCCTAGCAGAGTGCACCGCACAGGAGGTGCCTCCTAGGTGGGCAGAGTCTGGGGGATGGGGAATTCAGAGGGTGGCTTGCAGCCTGGCCCATTTTCCCTCCCCAGGAGTATGGGGCACCCATCGTGGACCCCATTAACGACATCCGCATCATTGCCGTGGTCTCGGTCACTGTGCTGCTGGCCATCTCCCTGGCTGGCATGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACTGCTATATTCCCAACTCCTTGAACAGATCCTGCTGCATAATGGGTGTTGAATGAATGAGTGAGTGAATAATGGAGAAACGGGCCCTGGGCAAATCATTTTCTGGCGGGGCTTCCCAGAGAGGTAGAACAAAACTATCTGACCTCTGGGGTCCTTCGCCCCCTCCAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTATTTAGTGGGGATGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTACCGGGGTATGTGCTGATCAAGGCCCTGACCATGGCTCTGGGGACAGGGACTCTCTACCCAGGAATCTGGCCCATTGTGTGGACACTGGGAGGATGGGATTACCCAATCCCATGGTCAGGGGCTGCCTGCCCAGTGGGTCCCAGCAAGGGGGGTCAAGCCCTCCAGGTGAGCCTTACTCATCAGGCCTTGCTTTTCCAGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATATCTGGTGACCTCAAGGTGAGCAGAATACTTGCCCCTCCTGTGTCCTGGCACTGCACAGGGGCTATGAGCAGAATCCTGCCCCCTGCTCTAGTGGCATCTGCCGCTGACCTGGGAGGCAGGGCTTCTAAAATCCAGTCCAGTCCAACTCAGCTCAGTTCAACCCAATCCAACCGATTCCATTCCGTTCTGAGGTTGTTTATGAAGACCAGCTGCGTTCTAGGCTTGAGGGACACCACAGAATGGCTAGGTTCCTCCCTAGTTCCCAGAACTCTCAGCCTTAGGGGAAGACTGGCCCAGCTGTGACCTTAAGAGCCCAGCCTTGCTCATGCACATCTTTGCTGGGCTGACATCCTCCCAGGGCTCCCCACTGCCTTGCTGCAGGCAGGCTTCTTGGCTTGGCATTCAAGGCTCCAGCCTGCCTGTCTAGCCTCATCCCTGACCAGTGCCACCCTTCCCATGAGCCTGCTGCAGCCCTGAGGCTCTACTGCTTTGCCCGTGTTACCTCGTCCCTCCTCCACGCCTTTGCCTGTGCTGCGCTCTCTACCTGCAACTCCGTACGCTTGCTTTTTTACCCTGAAAGTCTGTTCTGTTTCTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCGCACCCGGTTAATATTTGTATTTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATTCGCCTGGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACCATGCCTAGCCTCTTTTATTTATTTTATTTTATTTTTTTTTTTTTGAGATGAAGTCTCGGTCTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGTTGAGACTACAGGCACCTGCCACCACGCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAAGTGATCCACCCGATTTGTCTTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTTCTCCTGGCCTGTTTCTCTTTCAAATACCGCCTTCAACTATCATCTCTCCCAGCCCTTCCATCAGAGTCATGGTTCCCCAGCATAATGATGTTGGGCCAAACGCGTATCTGTTGCCCCGGCATCTGGAGAACGGAGACTTGCCTCTGTCTCCCTATTCCCTCCCAGCTCAGAGCCTGGCACATACTAGGTGCTCTGTACATGTTTGTTGACTGAATCATGGTGAAATGCAGTGTTTGAGCAGTAGCACAAAGTGCTGCACCAGCAGGGAGAAGGAGAGACTGATGTTGGCAGGGGTTCCAGCAGAATTTCTGGGTGCAGGAGGCGCCAGAGCTGGGCTTTGAAAGGTGACAAGCTGGCAGAACCTTTGCTCAAGGGAGGTGGCAGGCAAGAGGGGGTGATGAATGGGGAGCTAGCCCCACACTGGAAATCACAGCTAACCCCTACCCCAAACCTC
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Task1_train_22717
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The gene SLC12A3 (solute carrier family 12 member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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TGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACTGCTATATTCCCAACTCCTTGAACAGATCCTGCTGCATAATGGGTGTTGAATGAATGAGTGAGTGAATAATGGAGAAACGGGCCCTGGGCAAATCATTTTCTGGCGGGGCTTCCCAGAGAGGTAGAACAAAACTATCTGACCTCTGGGGTCCTTCGCCCCCTCCAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTATTTAGTGGGGACGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTACCGGGGTATGTGCTGATCAAGGCCCTGACCATGGCTCTGGGGACAGGGACTCTCTACCCAGGAATCTGGCCCATTGTGTGGACACTGGGAGGATGGGATTACCCAATCCCATGGTCAGGGGCTGCCTGCCCAGTGGGTCCCAGCAAGGGGGGTCAAGCCCTCCAGGTGAGCCTTACTCATCAGGCCTTGCTTTTCCAGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATATCTGGTGACCTCAAGGTGAGCAGAATACTTGCCCCTCCTGTGTCCTGGCACTGCACAGGGGCTATGAGCAGAATCCTGCCCCCTGCTCTAGTGGCATCTGCCGCTGACCTGGGAGGCAGGGCTTCTAAAATCCAGTCCAGTCCAACTCAGCTCAGTTCAACCCAATCCAACCGATTCCATTCCGTTCTGAGGTTGTTTATGAAGACCAGCTGCGTTCTAGGCTTGAGGGACACCACAGAATGGCTAGGTTCCTCCCTAGTTCCCAGAACTCTCAGCCTTAGGGGAAGACTGGCCCAGCTGTGACCTTAAGAGCCCAGCCTTGCTCATGCACATCTTTGCTGGGCTGACATCCTCCCAGGGCTCCCCACTGCCTTGCTGCAGGCAGGCTTCTTGGCTTGGCATTCAAGGCTCCAGCCTGCCTGTCTAGCCTCATCCCTGACCAGTGCCACCCTTCCCATGAGCCTGCTGCAGCCCTGAGGCTCTACTGCTTTGCCCGTGTTACCTCGTCCCTCCTCCACGCCTTTGCCTGTGCTGCGCTCTCTACCTGCAACTCCGTACGCTTGCTTTTTTACCCTGAAAGTCTGTTCTGTTTCTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCGCACCCGGTTAATATTTGTATTTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATTCGCCTGGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACCATGCCTAGCCTCTTTTATTTATTTTATTTTATTTTTTTTTTTTTGAGATGAAGTCTCGGTCTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGTTGAGACTACAGGCACCTGCCACCACGCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAAGTGATCCACCCGATTTGTCTTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTTCTCCTGGCCTGTTTCTCTTTCAAATACCGCCTTCAACTATCATCTCTCCCAGCCCTTCCATCAGAGTCATGGTTCCCCAGCATAATGATGTTGGGCCAAACGCGTATCTGTTGCCCCGGCATCTGGAGAACGGAGACTTGCCTCTGTCTCCCTATTCCCTCCCAGCTCAGAGCCTGGCACATACTAGGTGCTCTGTACATGTTTGTTGACTGAATCATGGTGAAATGCAGTGTTTGAGCAGTAGCACAAAGTGCTGCACCAGCAGGGAGAAGGAGAGACTGATGTTGGCAGGGGTTCCAGCAGAATTTCTGGGTGCAGGAGGCGCCAGAGCTGGGCTTTGAAAGGTGACAAGCTGGCAGAACCTTTGCTCAAGGGAGGTGGCAGGCAAGAGGGGGTGATGAATGGGGAGCTAGCCCCACACTGGAAATCACAGCTAACCCCTACCCCAAACCTCCAGTCTCATTTGGAAGGCGCTCCTTGATGCATTTTCTTAAGCAAATTAAGAGCTGTGCATTGAGCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGAAGGCCAGAGCAGGTGGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGGCTAACATGATGAAACTGTTTTAGTCTCCACTAAAAACATAAAAATTAGCCGGGTGTGGTGGTGGGTTCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTGCTAGAACCCGGAAGGCGGAGGTTGCAGTGAGCCAAGATGGCGCCACTACACTCCAGCCTGGGTGACAGAGCGGAACTCCATCTCAAACCTCACCC
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TGGAGTGGGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACTGCTATATTCCCAACTCCTTGAACAGATCCTGCTGCATAATGGGTGTTGAATGAATGAGTGAGTGAATAATGGAGAAACGGGCCCTGGGCAAATCATTTTCTGGCGGGGCTTCCCAGAGAGGTAGAACAAAACTATCTGACCTCTGGGGTCCTTCGCCCCCTCCAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTATTTAGTGGGGACGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTACCGGGGTATGTGCTGATCAAGGCCCTGACCATGGCTCTGGGGACAGGGACTCTCTACCCAGGAATCTGGCCCATTGTGTGGACACTGGGAGGATGGGATTACCCAATCCCATGGTCAGGGGCTGCCTGCCCAGTGGGTCCCAGCAAGGGGGGTCAAGCCCTCCAGGTGAGCCTTACTCATCAGGCCTTGCTTTTCCAGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAAGATATCTGGTGACCTCAAGGTGAGCAGAATACTTGCCCCTCCTGTGTCCTGGCACTGCACAGGGGCTATGAGCAGAATCCTGCCCCCTGCTCTAGTGGCATCTGCCGCTGACCTGGGAGGCAGGGCTTCTAAAATCCAGTCCAGTCCAACTCAGCTCAGTTCAACCCAATCCAACCGATTCCATTCCGTTCTGAGGTTGTTTATGAAGACCAGCTGCGTTCTAGGCTTGAGGGACACCACAGAATGGCTAGGTTCCTCCCTAGTTCCCAGAACTCTCAGCCTTAGGGGAAGACTGGCCCAGCTGTGACCTTAAGAGCCCAGCCTTGCTCATGCACATCTTTGCTGGGCTGACATCCTCCCAGGGCTCCCCACTGCCTTGCTGCAGGCAGGCTTCTTGGCTTGGCATTCAAGGCTCCAGCCTGCCTGTCTAGCCTCATCCCTGACCAGTGCCACCCTTCCCATGAGCCTGCTGCAGCCCTGAGGCTCTACTGCTTTGCCCGTGTTACCTCGTCCCTCCTCCACGCCTTTGCCTGTGCTGCGCTCTCTACCTGCAACTCCGTACGCTTGCTTTTTTACCCTGAAAGTCTGTTCTGTTTCTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCGCACCCGGTTAATATTTGTATTTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATTCGCCTGGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACCATGCCTAGCCTCTTTTATTTATTTTATTTTATTTTTTTTTTTTTGAGATGAAGTCTCGGTCTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGTTGAGACTACAGGCACCTGCCACCACGCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAAGTGATCCACCCGATTTGTCTTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTTCTCCTGGCCTGTTTCTCTTTCAAATACCGCCTTCAACTATCATCTCTCCCAGCCCTTCCATCAGAGTCATGGTTCCCCAGCATAATGATGTTGGGCCAAACGCGTATCTGTTGCCCCGGCATCTGGAGAACGGAGACTTGCCTCTGTCTCCCTATTCCCTCCCAGCTCAGAGCCTGGCACATACTAGGTGCTCTGTACATGTTTGTTGACTGAATCATGGTGAAATGCAGTGTTTGAGCAGTAGCACAAAGTGCTGCACCAGCAGGGAGAAGGAGAGACTGATGTTGGCAGGGGTTCCAGCAGAATTTCTGGGTGCAGGAGGCGCCAGAGCTGGGCTTTGAAAGGTGACAAGCTGGCAGAACCTTTGCTCAAGGGAGGTGGCAGGCAAGAGGGGGTGATGAATGGGGAGCTAGCCCCACACTGGAAATCACAGCTAACCCCTACCCCAAACCTCCAGTCTCATTTGGAAGGCGCTCCTTGATGCATTTTCTTAAGCAAATTAAGAGCTGTGCATTGAGCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGAAGGCCAGAGCAGGTGGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGGCTAACATGATGAAACTGTTTTAGTCTCCACTAAAAACATAAAAATTAGCCGGGTGTGGTGGTGGGTTCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTGCTAGAACCCGGAAGGCGGAGGTTGCAGTGAGCCAAGATGGCGCCACTACACTCCAGCCTGGGTGACAGAGCGGAACTCCATCTCAAACCTCACCC
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Task1_train_22718
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Located on Chromosome 16, this mutation impacts SLC12A3 (solute carrier family 12 member 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; not provided
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GGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACTGCTATATTCCCAACTCCTTGAACAGATCCTGCTGCATAATGGGTGTTGAATGAATGAGTGAGTGAATAATGGAGAAACGGGCCCTGGGCAAATCATTTTCTGGCGGGGCTTCCCAGAGAGGTAGAACAAAACTATCTGACCTCTGGGGTCCTTCGCCCCCTCCAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTATTTAGTGGGGACGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTACCGGGGTATGTGCTGATCAAGGCCCTGACCATGGCTCTGGGGACAGGGACTCTCTACCCAGGAATCTGGCCCATTGTGTGGACACTGGGAGGATGGGATTACCCAATCCCATGGTCAGGGGCTGCCTGCCCAGTGGGTCCCAGCAAGGGGGGTCAAGCCCTCCAGGTGAGCCTTACTCATCAGGCCTTGCTTTTCCAGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATATCTGGTGACCTCAAGGTGAGCAGAATACTTGCCCCTCCTGTGTCCTGGCACTGCACAGGGGCTATGAGCAGAATCCTGCCCCCTGCTCTAGTGGCATCTGCCGCTGACCTGGGAGGCAGGGCTTCTAAAATCCAGTCCAGTCCAACTCAGCTCAGTTCAACCCAATCCAACCGATTCCATTCCGTTCTGAGGTTGTTTATGAAGACCAGCTGCGTTCTAGGCTTGAGGGACACCACAGAATGGCTAGGTTCCTCCCTAGTTCCCAGAACTCTCAGCCTTAGGGGAAGACTGGCCCAGCTGTGACCTTAAGAGCCCAGCCTTGCTCATGCACATCTTTGCTGGGCTGACATCCTCCCAGGGCTCCCCACTGCCTTGCTGCAGGCAGGCTTCTTGGCTTGGCATTCAAGGCTCCAGCCTGCCTGTCTAGCCTCATCCCTGACCAGTGCCACCCTTCCCATGAGCCTGCTGCAGCCCTGAGGCTCTACTGCTTTGCCCGTGTTACCTCGTCCCTCCTCCACGCCTTTGCCTGTGCTGCGCTCTCTACCTGCAACTCCGTACGCTTGCTTTTTTACCCTGAAAGTCTGTTCTGTTTCTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCGCACCCGGTTAATATTTGTATTTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATTCGCCTGGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACCATGCCTAGCCTCTTTTATTTATTTTATTTTATTTTTTTTTTTTTGAGATGAAGTCTCGGTCTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGTTGAGACTACAGGCACCTGCCACCACGCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAAGTGATCCACCCGATTTGTCTTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTTCTCCTGGCCTGTTTCTCTTTCAAATACCGCCTTCAACTATCATCTCTCCCAGCCCTTCCATCAGAGTCATGGTTCCCCAGCATAATGATGTTGGGCCAAACGCGTATCTGTTGCCCCGGCATCTGGAGAACGGAGACTTGCCTCTGTCTCCCTATTCCCTCCCAGCTCAGAGCCTGGCACATACTAGGTGCTCTGTACATGTTTGTTGACTGAATCATGGTGAAATGCAGTGTTTGAGCAGTAGCACAAAGTGCTGCACCAGCAGGGAGAAGGAGAGACTGATGTTGGCAGGGGTTCCAGCAGAATTTCTGGGTGCAGGAGGCGCCAGAGCTGGGCTTTGAAAGGTGACAAGCTGGCAGAACCTTTGCTCAAGGGAGGTGGCAGGCAAGAGGGGGTGATGAATGGGGAGCTAGCCCCACACTGGAAATCACAGCTAACCCCTACCCCAAACCTCCAGTCTCATTTGGAAGGCGCTCCTTGATGCATTTTCTTAAGCAAATTAAGAGCTGTGCATTGAGCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGAAGGCCAGAGCAGGTGGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGGCTAACATGATGAAACTGTTTTAGTCTCCACTAAAAACATAAAAATTAGCCGGGTGTGGTGGTGGGTTCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTGCTAGAACCCGGAAGGCGGAGGTTGCAGTGAGCCAAGATGGCGCCACTACACTCCAGCCTGGGTGACAGAGCGGAACTCCATCTCAAACCTCACCCCCCCGCA
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GGAGTCCAAGGTGAGGAGGCCATGGAGGAGGGGGACATGGAGGTGGTCACGTGGAGAAGCGGGGGTTGCCAGGCCTGGGCCCTCCCTGGTCCTCTGCCTTTTCTTTTTCTTTTCTTTTTTTTTTTTTGAGACAGAATCTCGCTCGATGTCCATGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTATATTGTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCTGCTGCTTTGTATCTCTTGTGTGACAACCTAGGTCCACATGGCCCAGGGTGGGCATGGTGGCTCAGGGGGCCGGGCACCCAGACTCCTTCCATCTTGTGCTCCCTCCATCCCTGCGCCGTGGCCTTTGTCCACCTGGTCCACCATACCCACATCCCCTCCAGTCAGAGGGAAAGCAAAGAAGGGGGAAATGAAAGGGAGGGAATTCCCTTTTCTCTTTCTTTTTATGGCACCATCTGGAAGTTTCACTATCGCTGTCACACATGGCTGCGAGGGAGCCTGGGGAGGTGTGGCCTTCAACTGAATCATGGATCCTGCTGGCAGACTCAGCCGGACAGGCCCTACAGGCAGGGCAGGACCTGGCCCCTGCAGCCTGTCCTCTCCCCGCATTTTCTGACCTGCAGCTGTCAGAGGGTGTCCTCCTTGCTCTTCCTTGGATGCCCTGAGCTGAATTCCCTGGACAGTTCTCTGGCTTGTTCATTCTCCCACTTAAGGTGTCTGCTAAACACCTTCTCTCTGGTGACACCTTCCCAGGTCATCCTGCTAAATGAGCTCCACCCAGTCCCCATCACACTCCCTCTTCTTTATTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGTTCTGTCACCTAGGCTGGGGTGCAGAGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTCGTCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGACACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGTCTCCCAAAATGCTGAGATTACAGGTTTGAGCCACTGTTTCCGGCCTGTATTTTTAGTAGAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAACCTCTTCTTACTTTAAATTCATCCTCCTTATTTATCAGCCAAGACAAGAGGCTTTGGCGGTCTTGTTCACTGCTATATTCCCAACTCCTTGAACAGATCCTGCTGCATAATGGGTGTTGAATGAATGAGTGAGTGAATAATGGAGAAACGGGCCCTGGGCAAATCATTTTCTGGCGGGGCTTCCCAGAGAGGTAGAACAAAACTATCTGACCTCTGGGGTCCTTCGCCCCCTCCAGGCCCAGGTGCTGTTCTTCCTTGTCATCATGGTCTCCTTTGCCAACTATTTAGTGGGGACGCTGATCCCCCCATCTGAGGACAAGGCCTCCAAAGGCTTCTTCAGCTACCGGGGTATGTGCTGATCAAGGCCCTGACCATGGCTCTGGGGACAGGGACTCTCTACCCAGGAATCTGGCCCATTGTGTGGACACTGGGAGGATGGGATTACCCAATCCCATGGTCAGGGGCTGCCTGCCCAGTGGGTCCCAGCAAGGGGGGTCAAGCCCTCCAGGTGAGCCTTACTCATCAGGCCTTGCTTTTCCAGCGGACATTTTTGTCCAGAACTTGGTGCCTGACTGGCGGGGTCCAGATGGCACCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAACATATCTAGTGACCTCAAGGTGAGCAGAATACTTGCCCCTCCTGTGTCCTGGCACTGCACAGGGGCTATGAGCAGAATCCTGCCCCCTGCTCTAGTGGCATCTGCCGCTGACCTGGGAGGCAGGGCTTCTAAAATCCAGTCCAGTCCAACTCAGCTCAGTTCAACCCAATCCAACCGATTCCATTCCGTTCTGAGGTTGTTTATGAAGACCAGCTGCGTTCTAGGCTTGAGGGACACCACAGAATGGCTAGGTTCCTCCCTAGTTCCCAGAACTCTCAGCCTTAGGGGAAGACTGGCCCAGCTGTGACCTTAAGAGCCCAGCCTTGCTCATGCACATCTTTGCTGGGCTGACATCCTCCCAGGGCTCCCCACTGCCTTGCTGCAGGCAGGCTTCTTGGCTTGGCATTCAAGGCTCCAGCCTGCCTGTCTAGCCTCATCCCTGACCAGTGCCACCCTTCCCATGAGCCTGCTGCAGCCCTGAGGCTCTACTGCTTTGCCCGTGTTACCTCGTCCCTCCTCCACGCCTTTGCCTGTGCTGCGCTCTCTACCTGCAACTCCGTACGCTTGCTTTTTTACCCTGAAAGTCTGTTCTGTTTCTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCGCACCCGGTTAATATTTGTATTTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATTCGCCTGGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACCATGCCTAGCCTCTTTTATTTATTTTATTTTATTTTTTTTTTTTTGAGATGAAGTCTCGGTCTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGTTGAGACTACAGGCACCTGCCACCACGCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAAGTGATCCACCCGATTTGTCTTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTTCTCCTGGCCTGTTTCTCTTTCAAATACCGCCTTCAACTATCATCTCTCCCAGCCCTTCCATCAGAGTCATGGTTCCCCAGCATAATGATGTTGGGCCAAACGCGTATCTGTTGCCCCGGCATCTGGAGAACGGAGACTTGCCTCTGTCTCCCTATTCCCTCCCAGCTCAGAGCCTGGCACATACTAGGTGCTCTGTACATGTTTGTTGACTGAATCATGGTGAAATGCAGTGTTTGAGCAGTAGCACAAAGTGCTGCACCAGCAGGGAGAAGGAGAGACTGATGTTGGCAGGGGTTCCAGCAGAATTTCTGGGTGCAGGAGGCGCCAGAGCTGGGCTTTGAAAGGTGACAAGCTGGCAGAACCTTTGCTCAAGGGAGGTGGCAGGCAAGAGGGGGTGATGAATGGGGAGCTAGCCCCACACTGGAAATCACAGCTAACCCCTACCCCAAACCTCCAGTCTCATTTGGAAGGCGCTCCTTGATGCATTTTCTTAAGCAAATTAAGAGCTGTGCATTGAGCCAGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGAAGGCCAGAGCAGGTGGATCACTTGAGGTCGGGAGTTCGAGACCAGCCTGGCTAACATGATGAAACTGTTTTAGTCTCCACTAAAAACATAAAAATTAGCCGGGTGTGGTGGTGGGTTCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTGCTAGAACCCGGAAGGCGGAGGTTGCAGTGAGCCAAGATGGCGCCACTACACTCCAGCCTGGGTGACAGAGCGGAACTCCATCTCAAACCTCACCCCCCCGCA
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Task1_train_22719
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This alteration in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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AAAGTGCCTAGAAGAGTGGAACACATGCTGTGTTCGTGAAGGCTTGTGATCACTGTTAAGAAAATACGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTG
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AAAGTGCCTAGAAGAGTGGAACACATGCTGTGTTCGTGAAGGCTTGTGATCACTGTTAAGAAAATACGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGTGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTG
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Task1_train_22720
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A variant was discovered on Chromosome 16, affecting SLC12A3 (solute carrier family 12 member 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; not provided
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AAGTGCCTAGAAGAGTGGAACACATGCTGTGTTCGTGAAGGCTTGTGATCACTGTTAAGAAAATACGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGG
|
AAGTGCCTAGAAGAGTGGAACACATGCTGTGTTCGTGAAGGCTTGTGATCACTGTTAAGAAAATACGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCCTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGG
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Task1_train_22721
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The gene SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; not provided
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CGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCC
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CGAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCCGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCC
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Task1_train_22722
|
This mutation occurs in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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GAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCA
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GAGCGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTACAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCA
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Task1_train_22723
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Assess the clinical impact of this variant on gene SLC12A3 (solute carrier family 12 member 3), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Familial hypokalemia-hypomagnesemia
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GGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTG
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GGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGTACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTG
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Task1_train_22724
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A genetic alteration is present in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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CTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCC
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CTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGGGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCC
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Task1_train_22725
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This variant lies on Chromosome 16 and affects the gene SLC12A3 (solute carrier family 12 member 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Inborn genetic diseases
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AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCA
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AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACAGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCA
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Task1_train_22726
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A mutation on Chromosome 16 affecting SLC12A3 (solute carrier family 12 member 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Familial aortopathy
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AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCA
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AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACAGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCA
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Task1_train_22727
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A genetic alteration is present in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCA
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AGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTATCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGGCGCCTATAGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAATAAAAATAAAAAATAATTTTAAAAAAGCAAGAAAATATGAGCAGATATTTATTTCTTAGAACGGAAGGAGAAAATTTGGGGTGTATCCTATTTATGGTTGAGGAACCAGACAAATCAATTGGTGCATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACAGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCA
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Task1_train_22728
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Located on Chromosome 16, this mutation impacts SLC12A3 (solute carrier family 12 member 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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GTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCACTATTACCCAAGGTAAGCTTTTCAGACACCAGGCACTACTGGGTCCTGGACCACATGAAGAGGTGGCAGGGATGGAAAAGTCTGGTCAGACTTGATGTTCCCCGGCCCCGTCTCTGCTTCCTGCTCACCGGGGCCCAGAAACACATTTCCCTGCAATGTACCCTGATGCAGATTCGATGTCCTTTCATCTGGGGGGGGGTCTGACTTGACTTCAGACTGAGGACCATGATCTCAGATGCTCCGGGCAGGGTTCTTAGGTGATTACATGAAATCATGGACAGAGGACCTGGCACATTGGTGCACGTCGTGTTTTGGGATCCCCAGAAGCAGGCCCCGAGACAAGGATTAATATGTAAAAGTTTATCTGGGGTGCTGGGGGCAGTAGCAGGGGAGGGGAACAGGGAGACAGGGAAGAGGAAGCAG
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GTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTGTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCACTATTACCCAAGGTAAGCTTTTCAGACACCAGGCACTACTGGGTCCTGGACCACATGAAGAGGTGGCAGGGATGGAAAAGTCTGGTCAGACTTGATGTTCCCCGGCCCCGTCTCTGCTTCCTGCTCACCGGGGCCCAGAAACACATTTCCCTGCAATGTACCCTGATGCAGATTCGATGTCCTTTCATCTGGGGGGGGGTCTGACTTGACTTCAGACTGAGGACCATGATCTCAGATGCTCCGGGCAGGGTTCTTAGGTGATTACATGAAATCATGGACAGAGGACCTGGCACATTGGTGCACGTCGTGTTTTGGGATCCCCAGAAGCAGGCCCCGAGACAAGGATTAATATGTAAAAGTTTATCTGGGGTGCTGGGGGCAGTAGCAGGGGAGGGGAACAGGGAGACAGGGAAGAGGAAGCAG
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Task1_train_22729
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A sequence alteration has been identified in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it disease-inducing or harmless?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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CTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCGGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCACTATTACCCAAGGTAAGCTTTTCAGACACCAGGCACTACTGGGTCCTGGACCACATGAAGAGGTGGCAGGGATGGAAAAGTCTGGTCAGACTTGATGTTCCCCGGCCCCGTCTCTGCTTCCTGCTCACCGGGGCCCAGAAACACATTTCCCTGCAATGTACCCTGATGCAGATTCGATGTCCTTTCATCTGGGGGGGGGTCTGACTTGACTTCAGACTGAGGACCATGATCTCAGATGCTCCGGGCAGGGTTCTTAGGTGATTACATGAAATCATGGACAGAGGACCTGGCACATTGGTGCACGTCGTGTTTTGGGATCCCCAGAAGCAGGCCCCGAGACAAGGATTAATATGTAAAAGTTTATCTGGGGTGCTGGGGGCAGTAGCAGGGGAGGGGAACAGGGAGACAGGGAAGAGGAAGCAGTTCTTGGGTGGGTTACCACTGGGGTACCAGTGGGGTGGAGCTGTGTTACGGTCTTAGGTGTCCTGGGCCACATTGCAAAATGTATTTCTGGCCAGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCAAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAAGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTCCGTCTCAAAAAAAAAAAAAAAGAAAAGTATTTCTTGCTGTCATTTGTGGTCAAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCC
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CTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGGCAAGCTGTTCACAAATGGCCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCACTCAAGCTCTCTGCGCCTCTGTAAAATGGCAACGACAACAAAAATAATAGTAATGCCTGCTCGTAGGTTATTGTAAAGTACTTATCATGGCTCCGGGCACACCTTCATTGTCATCATTATCATTGCATAATGAAGGGACAGCTGCCCATCATCTGCAGCACCTCGCCCTCTGCAGAGGTGGGGCTGGAAGAGGACAGAGTAAGGAGGGAAGGCAGACCTCCCCATGCTCTCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAGTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAGCTATGGCTGGAACTTCACCGAGTGCACCCAGCAGCACAGCTGCCACTACGGCCTCATCAACTATTACCAGGTACTGCCAGGAGAGCTGACCCACCAGACACAGTGGGGGCTGGGTGGAGGCTGCAGGGCCCCTTGCAGGCCTGGAAGTTTGTTGGGGGGACATAGTTTTGGGGGTTGAGGCCTAGGCTTAGGAGAGAGGGGTTCAGAGCCCAGGTCTGTCCAGTCCCGACTTGTGGGTGGACACTGGGATCTCCAGGGGTGGGTTGTGGACTCAGGTGGAGGCTCAGGACCCAGCCCCTGCCCGCAGTAGGGAATGAAGTGCCACAGATGGGGGCTCCTGGCTCAGCCCCCACCGTGGAGTCCCTGAGCCCCAAATCCCCACAGACCATGAGCATGGTGTCAGGCTTCGCGCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGCCTGCCTTGTCTCTGCTGCCAAAGTCTTCCAGGTGAGGCCGCAGAAAGGGGTCGAGATGACAGGGGGTGGGGAGCCTGGGCTAGAGGCACAATAGGGCGGGTCCCTGGGTGACTGCTACAAACACCTGAAGGTGTCATTAGACTGGGGTCTCTAGCCAGAAGGGAAAAGGAGCTATCAGCAAACTCTTGAAGGAAGCAGCCCCCTCCGACTTGACAAACACCTGCAGTCCCCACCCCAAACTCCCACCTGTGCCACCAGCATCCTGTCCGCAACTCCACCATTCAAGCTCTACCCGAAGCCATCCATCCCCCAGTCATGCTCTTTTACTGTCTTTATGGTAGGGCGGGGAGGGTGGAGGGGGTGAGCATCCCTGTTTAATAGAAACAGACACCAGGACCCAGGTTGGGGAGGTCACGGAGGGCACCGAGCCGGGGCTGGAGCTCAGGTGGCCCCAGGGGAGGGGAAGTGGCAGGTCCCAGCCTAAGGGTGAGTGCGGCATCTGGTGCTGCAGTGCCTTTGCGAGGACCAGCTGTACCCACTGATCGGCTTCTTCGGCAAAGGCTATGGCAAGAACAAGGAGCCCGTGCGTGGCTACCTGCTGGCCTACGCCATCGCTGTGGCCTTCATCATCATCAGTAAGGCTCTGCCAGGGCTCACAGGGCCTGGCCTCCTGTTCCCCTGGCCGGCCATGAGGGTCTTGGGGGCCGGGCTCTTCTCCTGTCTCCTCATCTCCCCGCCGGGCCTGACAGTTAGTGGGCACTAAGAGGCTAAGTCTTGAGGGGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCACTATTACCCAAGGTAAGCTTTTCAGACACCAGGCACTACTGGGTCCTGGACCACATGAAGAGGTGGCAGGGATGGAAAAGTCTGGTCAGACTTGATGTTCCCCGGCCCCGTCTCTGCTTCCTGCTCACCGGGGCCCAGAAACACATTTCCCTGCAATGTACCCTGATGCAGATTCGATGTCCTTTCATCTGGGGGGGGGTCTGACTTGACTTCAGACTGAGGACCATGATCTCAGATGCTCCGGGCAGGGTTCTTAGGTGATTACATGAAATCATGGACAGAGGACCTGGCACATTGGTGCACGTCGTGTTTTGGGATCCCCAGAAGCAGGCCCCGAGACAAGGATTAATATGTAAAAGTTTATCTGGGGTGCTGGGGGCAGTAGCAGGGGAGGGGAACAGGGAGACAGGGAAGAGGAAGCAGTTCTTGGGTGGGTTACCACTGGGGTACCAGTGGGGTGGAGCTGTGTTACGGTCTTAGGTGTCCTGGGCCACATTGCAAAATGTATTTCTGGCCAGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCAAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAAGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTCCGTCTCAAAAAAAAAAAAAAAGAAAAGTATTTCTTGCTGTCATTTGTGGTCAAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCC
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Task1_train_22730
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This alteration occurs within gene SLC12A3 (solute carrier family 12 member 3) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Familial hypokalemia-hypomagnesemia
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GGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCACTATTACCCAAGGTAAGCTTTTCAGACACCAGGCACTACTGGGTCCTGGACCACATGAAGAGGTGGCAGGGATGGAAAAGTCTGGTCAGACTTGATGTTCCCCGGCCCCGTCTCTGCTTCCTGCTCACCGGGGCCCAGAAACACATTTCCCTGCAATGTACCCTGATGCAGATTCGATGTCCTTTCATCTGGGGGGGGGTCTGACTTGACTTCAGACTGAGGACCATGATCTCAGATGCTCCGGGCAGGGTTCTTAGGTGATTACATGAAATCATGGACAGAGGACCTGGCACATTGGTGCACGTCGTGTTTTGGGATCCCCAGAAGCAGGCCCCGAGACAAGGATTAATATGTAAAAGTTTATCTGGGGTGCTGGGGGCAGTAGCAGGGGAGGGGAACAGGGAGACAGGGAAGAGGAAGCAGTTCTTGGGTGGGTTACCACTGGGGTACCAGTGGGGTGGAGCTGTGTTACGGTCTTAGGTGTCCTGGGCCACATTGCAAAATGTATTTCTGGCCAGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCAAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAAGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTCCGTCTCAAAAAAAAAAAAAAAGAAAAGTATTTCTTGCTGTCATTTGTGGTCAAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCCTGTCTGGGGTCCCCCACCCTGGGAAGGAGGGTGCCAAGCCAGTCCTTGGCAGAGTTGCCCAACAGGCTGTCCTCTCTCTCCCTGGGTCCCCGAAGCTGAGCTCAACACCATAGCCCCCATCATTTCCAACTTCTTCCTCTGCTCCTATGCCCTCATCAACTTCAGCTGCTTCCACGCCTCCATCACCAACTCGCCTGGTAAGCAAACCCTTCACCCACCTCAGGAGGAGGCACCCAGGGGGCAGGAGGAACTGGGGCATGGGGTGGGAGTGGGAGGCATGGGTGGAGGTTGGCAGCCCAAGGTCACCTCTCAATTTAAAACCATTGAAAGGGAACATTAATATAATAATAGCAGCTCTCGGCTGGGCTCGGTGGCTCATGCCTGTAATCCTAGCATTTTTGGGAGGCGGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGTGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAACACAAAAATTAGCCAGATGTGGTAGCGGTCACCTGTAATCCAAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGAAAGGGGAGGTTACAGTGAGCAGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAATAATAGTAATAATAATAATGATAATAATAATAGCGGCTCTCCTTTCTCGCGCACTGACAGTGTGCACTTTACATGGATTCATACATTGCTTACCATCTGTAGGGGTTTTCCAGTCTTTTCCTTCCCCAGTTTTACAGGAATCAGGAGCCTGGTTCTTCAGAGAAAGAGAATTGCCCAAAGTCACAGCTAGGGCTGTCACAGACAGTGCTGCAGGTTGCACACTGCATAACTCTAGGAGGCACCATTCATATCATAGATTTCATATATTTGCATGTTTATGATGGAAAACTTCTGGCAGATGGCAATAAAGAGGCTTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGG
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GGTGAGACCCCACCTGGGAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCACTATTACCCAAGGTAAGCTTTTCAGACACCAGGCACTACTGGGTCCTGGACCACATGAAGAGGTGGCAGGGATGGAAAAGTCTGGTCAGACTTGATGTTCCCCGGCCCCGTCTCTGCTTCCTGCTCACCGGGGCCCAGAAACACATTTCCCTGCAATGTACCCTGATGCAGATTCGATGTCCTTTCATCTGGGGGGGGGTCTGACTTGACTTCAGACTGAGGACCATGATCTCAGATGCTCCGGGCAGGGTTCTTAGGTGATTACATGAAATCATGGACAGAGGACCTGGCACATTGGTGCACGTCGTGTTTTGGGATCCCCAGAAGCAGGCCCCGAGACAAGGATTAATATGTAAAAGTTTATCTGGGGTGCTGGGGGCAGTAGCAGGGGAGGGGAACAGGGAGACAGGGAAGAGGAAGCAGTTCTTGGGTGGGTTACCACTGGGGTACCAGTGGGGTGGAGCTGTGTTACGGTCTTAGGTGTCCTGGGCCACATTGCAAAATGTATTTCTGGCCAGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCAAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAAGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTCCGTCTCAAAAAAAAAAAAAAAGAAAAGTATTTCTTGCTGTCATTTGTGGTCAAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCCTGTCTGGGGTCCCCCACCCTGGGAAGGAGGGTGCCAAGCCAGTCCTTGGCAGAGTTGCCCAACAGGCTGTCCTCTCTCTCCCTGGGTCCCCGAAGCTGAGCTCAACACCATAGCCCCCATCATTTCCAACTTCTTCCTCTGCTCCTGTGCCCTCATCAACTTCAGCTGCTTCCACGCCTCCATCACCAACTCGCCTGGTAAGCAAACCCTTCACCCACCTCAGGAGGAGGCACCCAGGGGGCAGGAGGAACTGGGGCATGGGGTGGGAGTGGGAGGCATGGGTGGAGGTTGGCAGCCCAAGGTCACCTCTCAATTTAAAACCATTGAAAGGGAACATTAATATAATAATAGCAGCTCTCGGCTGGGCTCGGTGGCTCATGCCTGTAATCCTAGCATTTTTGGGAGGCGGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGTGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAACACAAAAATTAGCCAGATGTGGTAGCGGTCACCTGTAATCCAAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGAAAGGGGAGGTTACAGTGAGCAGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAATAATAGTAATAATAATAATGATAATAATAATAGCGGCTCTCCTTTCTCGCGCACTGACAGTGTGCACTTTACATGGATTCATACATTGCTTACCATCTGTAGGGGTTTTCCAGTCTTTTCCTTCCCCAGTTTTACAGGAATCAGGAGCCTGGTTCTTCAGAGAAAGAGAATTGCCCAAAGTCACAGCTAGGGCTGTCACAGACAGTGCTGCAGGTTGCACACTGCATAACTCTAGGAGGCACCATTCATATCATAGATTTCATATATTTGCATGTTTATGATGGAAAACTTCTGGCAGATGGCAATAAAGAGGCTTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGG
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Task1_train_22731
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Here is a mutation in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; not provided
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GAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCACTATTACCCAAGGTAAGCTTTTCAGACACCAGGCACTACTGGGTCCTGGACCACATGAAGAGGTGGCAGGGATGGAAAAGTCTGGTCAGACTTGATGTTCCCCGGCCCCGTCTCTGCTTCCTGCTCACCGGGGCCCAGAAACACATTTCCCTGCAATGTACCCTGATGCAGATTCGATGTCCTTTCATCTGGGGGGGGGTCTGACTTGACTTCAGACTGAGGACCATGATCTCAGATGCTCCGGGCAGGGTTCTTAGGTGATTACATGAAATCATGGACAGAGGACCTGGCACATTGGTGCACGTCGTGTTTTGGGATCCCCAGAAGCAGGCCCCGAGACAAGGATTAATATGTAAAAGTTTATCTGGGGTGCTGGGGGCAGTAGCAGGGGAGGGGAACAGGGAGACAGGGAAGAGGAAGCAGTTCTTGGGTGGGTTACCACTGGGGTACCAGTGGGGTGGAGCTGTGTTACGGTCTTAGGTGTCCTGGGCCACATTGCAAAATGTATTTCTGGCCAGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCAAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAAGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTCCGTCTCAAAAAAAAAAAAAAAGAAAAGTATTTCTTGCTGTCATTTGTGGTCAAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCCTGTCTGGGGTCCCCCACCCTGGGAAGGAGGGTGCCAAGCCAGTCCTTGGCAGAGTTGCCCAACAGGCTGTCCTCTCTCTCCCTGGGTCCCCGAAGCTGAGCTCAACACCATAGCCCCCATCATTTCCAACTTCTTCCTCTGCTCCTATGCCCTCATCAACTTCAGCTGCTTCCACGCCTCCATCACCAACTCGCCTGGTAAGCAAACCCTTCACCCACCTCAGGAGGAGGCACCCAGGGGGCAGGAGGAACTGGGGCATGGGGTGGGAGTGGGAGGCATGGGTGGAGGTTGGCAGCCCAAGGTCACCTCTCAATTTAAAACCATTGAAAGGGAACATTAATATAATAATAGCAGCTCTCGGCTGGGCTCGGTGGCTCATGCCTGTAATCCTAGCATTTTTGGGAGGCGGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGTGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAACACAAAAATTAGCCAGATGTGGTAGCGGTCACCTGTAATCCAAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGAAAGGGGAGGTTACAGTGAGCAGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAATAATAGTAATAATAATAATGATAATAATAATAGCGGCTCTCCTTTCTCGCGCACTGACAGTGTGCACTTTACATGGATTCATACATTGCTTACCATCTGTAGGGGTTTTCCAGTCTTTTCCTTCCCCAGTTTTACAGGAATCAGGAGCCTGGTTCTTCAGAGAAAGAGAATTGCCCAAAGTCACAGCTAGGGCTGTCACAGACAGTGCTGCAGGTTGCACACTGCATAACTCTAGGAGGCACCATTCATATCATAGATTTCATATATTTGCATGTTTATGATGGAAAACTTCTGGCAGATGGCAATAAAGAGGCTTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGG
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GAGGAGACATCGGGGGGCCATGTGATCCTTCCCCTTCCCACCTCCAGGCAGGGTGGCTCCCAAACCATGTCAGGCAGCAGAGCCTTCTGCTTTGTTAGAAGAGAACTTACCTGTTCCCCCGGTCTGCGTTCACATGTCCTGGCAGCTAGCATCCCCCTCCCCAGGCCTAAATGAACCCCAGAACACCTTTGGAGCATGGGACAAGCTGACTGGTCTCTCCTTGGGATGGGATACCAATGGCTGGTCAGTATCCTCATAGGTATATAAACTAGACAAACCTAGTTCCAAGGGCCTAGGGCTTCTAGACTCCTTGGGCTTCAAGGTGGTAGATGTCTTAAGAGAAAAGAGCCCAGGTAATCGGTTCATTAGATCAACTTCCTATCCAGGCTTTGCCATGTGCCAGCTGTGTGACCTTAGACAAGGTACTTCACCTCTCTGAGCCTCATTTTTCTCATCTGCAGAATGGGAGCAATAGTGCCTAACAGGTGTGTCTCAGATGGGCAGGAAGAGACCACCTGTGCAGGAAGACCTACATGCATTCATATATGCACACACACTCATATGTGCACACATACTCACATGTGCACATGCCCAATACTTGCCTAATTTACTTAGCCATGGAGGCAGAACTCGCGAGGAGAGAGGTGGCCACACCAAGCACGGGCAGTGGCCATGCTGCAACATGATGTCCCCTGGCCCCTGCTCCCTATGCAGGAGTGGGATGGGGGTAGACTACTGGCCAGCCTCCCTGGGCTCATGGGCACCCTCCTGCCAACAGTGAATCCATGCCGTTCAGGCTGGTATCACAGTCCATGAGATTTGCCCTGATAGCCTAGTCACTATTACCCAAGGTAAGCTTTTCAGACACCAGGCACTACTGGGTCCTGGACCACATGAAGAGGTGGCAGGGATGGAAAAGTCTGGTCAGACTTGATGTTCCCCGGCCCCGTCTCTGCTTCCTGCTCACCGGGGCCCAGAAACACATTTCCCTGCAATGTACCCTGATGCAGATTCGATGTCCTTTCATCTGGGGGGGGGTCTGACTTGACTTCAGACTGAGGACCATGATCTCAGATGCTCCGGGCAGGGTTCTTAGGTGATTACATGAAATCATGGACAGAGGACCTGGCACATTGGTGCACGTCGTGTTTTGGGATCCCCAGAAGCAGGCCCCGAGACAAGGATTAATATGTAAAAGTTTATCTGGGGTGCTGGGGGCAGTAGCAGGGGAGGGGAACAGGGAGACAGGGAAGAGGAAGCAGTTCTTGGGTGGGTTACCACTGGGGTACCAGTGGGGTGGAGCTGTGTTACGGTCTTAGGTGTCCTGGGCCACATTGCAAAATGTATTTCTGGCCAGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCAAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAAGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGAGTCCGTCTCAAAAAAAAAAAAAAAGAAAAGTATTTCTTGCTGTCATTTGTGGTCAAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCCTGTCTGGGGTCCCCCACCCTGGGAAGGAGGGTGCCAAGCCAGTCCTTGGCAGAGTTGCCCAACAGGCTGTCCTCTCTCTCCCTGGGTCCCCGAAGCTGAGCTCAACACCATAGCCCCCATCATTTCCAACTTCTTCCTCTGCTCCTATGCCCTCATCAACTTCGGCTGCTTCCACGCCTCCATCACCAACTCGCCTGGTAAGCAAACCCTTCACCCACCTCAGGAGGAGGCACCCAGGGGGCAGGAGGAACTGGGGCATGGGGTGGGAGTGGGAGGCATGGGTGGAGGTTGGCAGCCCAAGGTCACCTCTCAATTTAAAACCATTGAAAGGGAACATTAATATAATAATAGCAGCTCTCGGCTGGGCTCGGTGGCTCATGCCTGTAATCCTAGCATTTTTGGGAGGCGGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGTGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAACACAAAAATTAGCCAGATGTGGTAGCGGTCACCTGTAATCCAAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGAAAGGGGAGGTTACAGTGAGCAGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAATAATAGTAATAATAATAATGATAATAATAATAGCGGCTCTCCTTTCTCGCGCACTGACAGTGTGCACTTTACATGGATTCATACATTGCTTACCATCTGTAGGGGTTTTCCAGTCTTTTCCTTCCCCAGTTTTACAGGAATCAGGAGCCTGGTTCTTCAGAGAAAGAGAATTGCCCAAAGTCACAGCTAGGGCTGTCACAGACAGTGCTGCAGGTTGCACACTGCATAACTCTAGGAGGCACCATTCATATCATAGATTTCATATATTTGCATGTTTATGATGGAAAACTTCTGGCAGATGGCAATAAAGAGGCTTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGG
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Task1_train_22732
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Given this variant in gene SLC12A3 (solute carrier family 12 member 3) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Familial hypokalemia-hypomagnesemia
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AAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCCTGTCTGGGGTCCCCCACCCTGGGAAGGAGGGTGCCAAGCCAGTCCTTGGCAGAGTTGCCCAACAGGCTGTCCTCTCTCTCCCTGGGTCCCCGAAGCTGAGCTCAACACCATAGCCCCCATCATTTCCAACTTCTTCCTCTGCTCCTATGCCCTCATCAACTTCAGCTGCTTCCACGCCTCCATCACCAACTCGCCTGGTAAGCAAACCCTTCACCCACCTCAGGAGGAGGCACCCAGGGGGCAGGAGGAACTGGGGCATGGGGTGGGAGTGGGAGGCATGGGTGGAGGTTGGCAGCCCAAGGTCACCTCTCAATTTAAAACCATTGAAAGGGAACATTAATATAATAATAGCAGCTCTCGGCTGGGCTCGGTGGCTCATGCCTGTAATCCTAGCATTTTTGGGAGGCGGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGTGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAACACAAAAATTAGCCAGATGTGGTAGCGGTCACCTGTAATCCAAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGAAAGGGGAGGTTACAGTGAGCAGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAATAATAGTAATAATAATAATGATAATAATAATAGCGGCTCTCCTTTCTCGCGCACTGACAGTGTGCACTTTACATGGATTCATACATTGCTTACCATCTGTAGGGGTTTTCCAGTCTTTTCCTTCCCCAGTTTTACAGGAATCAGGAGCCTGGTTCTTCAGAGAAAGAGAATTGCCCAAAGTCACAGCTAGGGCTGTCACAGACAGTGCTGCAGGTTGCACACTGCATAACTCTAGGAGGCACCATTCATATCATAGATTTCATATATTTGCATGTTTATGATGGAAAACTTCTGGCAGATGGCAATAAAGAGGCTTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGC
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AAAACAGTGTGACAGCCACTACCCTTGGTCATCCCATAGCCTGATGGGGTCTACTCTCACACTGACCCCCACTGTCTTAAAAGCTGGGCGCTTACAGTTTACAAGACACCATCCCTTTGAGCTTCACAAAAGGATGGACCCATCTCACAGATGAGGTGGACCCATTTCACAGATGAGAAGGTTGAGACTGACTGAGCCTTGGTGGCCTGTCTGGGGTCCCCCACCCTGGGAAGGAGGGTGCCAAGCCAGTCCTTGGCAGAGTTGCCCAACAGGCTGTCCTCTCTCTCCCTGGGTCCCCGAAGCTGAGCTCAACACCATAGCCCCCATCATTTCCAACTTCTTCCTCTGCTCCTATGCCCTCATCAACTTCAGCTGCTTCCACGCCTCCATCACCAACTCGCCTGGTAAGCAAACCCTTCACCCACCTCAGGAGGAGGCACCCAGGGGGCAGGAGGAACTGGGGCATGGGGTGGGAGTGGGAGGCATGGGTGGAGGTTGGCAGCCCAAGGTCACCTCTCAATTTAAAACCATTGAAAGGGAACATTAATATAATAATAGCAGCTCTCGGCTGGGCTCGGTGGCTCATGCCTGTAATCCTAGCATTTTTGGGAGGCGGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGTGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAACACAAAAATTAGCCAGATGTGGTAGCGGTCACCTGTAATCCAAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGAAAGGGGAGGTTACAGTGAGCAGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAATAATAGTAATAATAATAATGATAATAATAATAGCGGCTCTCCTTTCTCGCGCACTGACAGTGTGCACTTTACATGGATTCATACATTGCTTACCATCTGTAGGGGTTTTCCAGTCTTTTCCTTCCCCAGTTTTACAGGAATCAGGAGCCTGGTTCTTCAGAGAAAGAGAATTGCCCAAAGTCACAGCTAGGGCTGTCACAGACAGTGCTGCAGGTTGCACACTGCATAACTCTAGGAGGCACCATTCATATCATAGATTTCATATATTTGCATGTTTATGATGGAAAACTTCTGGCAGATGGCAATAAAGAGGCTTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGTGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGC
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Task1_train_22733
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Consider a variant on Chromosome 16 in gene SLC12A3 (solute carrier family 12 member 3). Determine its clinical classification and disease relevance.
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Pathogenic; Familial hypokalemia-hypomagnesemia
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TTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCA
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TTGAGGAAGACTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCCGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCA
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Task1_train_22734
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Gene SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTT
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TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGTCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTT
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Task1_train_22735
|
The gene SLC12A3 (solute carrier family 12 member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Familial hypokalemia-hypomagnesemia
|
CTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGT
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CTGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACTGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGT
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Task1_train_22736
|
The gene SLC12A3 (solute carrier family 12 member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Familial hypokalemia-hypomagnesemia
|
TGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTT
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TGTTGTCCAGGCTGGAGAGCAGTTGCACGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTTGTGCCTGGCTGAGGAAGACTTTTTCTAACCAGCTCCAAATTGCCATTGTCTTTTACTAGGCCACCTTTTACATAGATCCCAATGTGTATGATGGCCCTGGAGTTGCACCATGAGGCAGCTGTCACTAGTGGCAGCCCTGGCCTGACCTGCTGGTGGGGAGCCAGGCAGAATCATGTCCTTCCCCCTCCATCTCACCCCCTTGGCACCATGGGAGCTGGTGCTGTTGCTGACATGGGATGTCCTGTGGCTGTATTTGGCCAGAGCTGGATGCTCCTGGTGAAATGCCAGCCAAAGCAGGCGTGTGATTTGCCCCAGAGCCTGTAGACCCAGCCCAGGAGGCAGGGTGGGTGGTGCTCATGGCTGGTGGGTACAGGCTGGGACCCCGGCTCTGGGCACTGCTGGCATTACTGCCAGGCCCTGCCCAGCAGCTCTGGCCTAGAAAGAGGCTCGACTGCCAGGCATGCCCACTGACTGGTGCCCTTGGCCCAGGGTGGAGACCTTCATTCCAATACTACAACAAGTGGGCGGCGCTGTTTGGGGCTATCATCTCCGTGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAGCCAGGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAGGGTAGCCATGCAGGCGGCCCTGCCCTCCGCCCCAGTTGGAGGGCCCTGAGTCCGGCTCTGTGCTGTCCAGGGCCCCTCTCTGCCCCTCCCCTTTATCCCTCCCAATGTGGCAAGAAACCCCAGGGGATGTCCCCACTCAGGGCCTATGTCTCGACCTCTAAGCCACCCCTGGGCACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCAGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTT
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Task1_train_22737
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This gene mutation involves SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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CACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCTATCTCAGCCCCCCAGAGTGCTCGGTTTACAGGCATGAGCCACCATGCCTGGCCAGAGCCCCAACTTTCTTATGTCTCCAGATGTGCTGGTTCTGGGCACTTTCTCGGAATGCCCAGGACCTGGGAAACTGACTTGGAAGCCTGTGGGGGCTTGTGTCACCTTGGCCAATTCTAACTCTTGGGGGCACTGGGAGGGATGTAGGGTGTTGGTGACCAAGCGAGAACTAGAATCGAGGATTCTGGAATTCAGATATTTCCTCCCATCAGTCATCTTTCTCCCAATAAAGTTTTGTTTTGTGCAAAACAAAAATTTTTAAGATTATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGAGAATCAGCACATCTGGAGACATCAGAAAGTTGGGGCTCTGGCCAGGTGGATCACCAACTCTGCCCCTCTGATGGGTTCCCCATCTCACCCCTATCCCCTGGCAGGCCGCAGGTCTCGGGAGAATGAAGCCCAACATTCTGGTGGTTGGGTTCAAGAAGAACTGGCAGTCGGCTCACCCGGCCACAGTGGAAGACTACATTGGCATCCTCCAGTGAGTCGGGGGAGAGGAAGGGGCTTGGGGTCTGTTAATTTGGGCCCATTGGGCCTTGAGAAGTGGAAAAGAAGTAGTGGGTGCTTAAAAAGTTGAGTCCTGCTGGGCAAAGTGGCTGGCATCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAGCTCACTTGAGCCCAGGAGTTGAAGGCTGCAGTGAGCAAAGATTGCACTGCTGCACTCCAGCCTAGGCGAAAGAGCAAGACCCCATCTTTGAAAAAGAAGTTGAGTCCATTTTCTCAAAGCTAAAGAAGAAACACGCTGAGGCTGAAGATGCCCGTCTCTGACCTGTGAGTCATGGACACCAAAGCCAGCTGGGGCCAGGCAGGTAGCACCATGAGTGAAGTGGGCCAGGCCAGGGGTGATAGGGAGCAGTGGAGACTGTGGCAACCCAGAGAGAGTGGCTCCTACTTGGCTCGTGTCCATGCAGAATGGGCTCTAGTGCCCGTG
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CACCCAGGACCCTGGAATCCCCTGTCCGAAGGACCCTGAGTGAGCTTCCAGGGCCTGCTTCAGCCTCTTCCCTAGGGCTGTCCCCCAAGAGGGGCCAGCAGGCTGCTGTGCACACCTAGGCCTCAGAGGTGGCTGAGGGCTGGTTGTGTGGATGGCAGGCAGACAAAGCTTGGACTCCGGGCAAGGTCTCTACTTGGCTGCAGGCAGGGACCCTGGGGTGGCAGCGACCTGAGGGCAGGAAACAGGACTCTAAGAAAGCCTGGGATTCTAAGTGTCAACCTGGGCTTCTAGGCCATTGCAAAGGTTTGGCAAGGCAGGAGGATATCGTGTGGAGCTTGAGGTGTAACTTTTTTGTGGGGGGACTGGGGTGCAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCAGCACAACCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTACCATACCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTGATGTGTAACTTTTCAACGTGCAGCCACACAGTCCGCAGGCCTCCACCTTGCAGGCTGCCCATCCCAGGTGGCCCTGCTCCCACGGGTGCCCGGTGCCTAGAGAAGGCCGACATTACCTCTGTCCCTCCACGTGTCTGGTTTCCTCTAGTGATTCCTAACTCTGCTCTCACCCCCGTTGCTCCCTTGCTCTCCCAGAGGTAAATTGGGGCTCCTCGGTACAGGCTGGCTCCTACAACCTGGCCCTCAGCTACTCGGTGGGCCTCAATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGACCCCAGGGCCAGTGATGGCTCCACCCTGGGAGTTTCCAAGCCTAGACCTGTCACCTGACCCAGGCAGACCCAGGGTATGTGCAGCCTCCACTCAGAGAGGGAACAGACATGGAGGAGCCACCCAGCCACCACAAGACAGGGGTGGACATATCCTGATGGGGACCAAGCAAGTCAAGGGGCCTCTCCATGCCTTGGTTTCCACAGTGGAAACGTGCTTTGGTGTTGAGGTGATTGTTGCTGCAGCTCCCATCACAGTATCGCCGGAGCCAATGGTGACGAACCTCCCCTGGGTACCCTTCAAAGCTCATTCCCCTCTTTGTAGAGGAGGTTTATGCACCTGCCATCCTCTTCCCACCAGATCCTAATAATTATTGGCAATATCTATTTATGTCATGCTTACTATGAGCCAGGTGCTTGCAAAGTGCCTTACACAGCCTTACAAGAACCGGCTGAGGTCCAGGAAATTACTAACCCAGTCCCAAGAACACTGAGGCACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACATGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCTATCTCAGCCCCCCAGAGTGCTCGGTTTACAGGCATGAGCCACCATGCCTGGCCAGAGCCCCAACTTTCTTATGTCTCCAGATGTGCTGGTTCTGGGCACTTTCTCGGAATGCCCAGGACCTGGGAAACTGACTTGGAAGCCTGTGGGGGCTTGTGTCACCTTGGCCAATTCTAACTCTTGGGGGCACTGGGAGGGATGTAGGGTGTTGGTGACCAAGCGAGAACTAGAATCGAGGATTCTGGAATTCAGATATTTCCTCCCATCAGTCATCTTTCTCCCAATAAAGTTTTGTTTTGTGCAAAACAAAAATTTTTAAGATTATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGAGAATCAGCACATCTGGAGACATCAGAAAGTTGGGGCTCTGGCCAGGTGGATCACCAACTCTGCCCCTCTGATGGGTTCCCCATCTCACCCCTATCCCCTGGCAGGCCGCAGGTCTCGGGAGAATGAAGCCCAACATTCTGGTGGTTGGGTTCAAGAAGAACTGGCAGTCGGCTCACCCGGCCACAGTGGAAGACTACATTGGCATCCTCCAGTGAGTCGGGGGAGAGGAAGGGGCTTGGGGTCTGTTAATTTGGGCCCATTGGGCCTTGAGAAGTGGAAAAGAAGTAGTGGGTGCTTAAAAAGTTGAGTCCTGCTGGGCAAAGTGGCTGGCATCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAGCTCACTTGAGCCCAGGAGTTGAAGGCTGCAGTGAGCAAAGATTGCACTGCTGCACTCCAGCCTAGGCGAAAGAGCAAGACCCCATCTTTGAAAAAGAAGTTGAGTCCATTTTCTCAAAGCTAAAGAAGAAACACGCTGAGGCTGAAGATGCCCGTCTCTGACCTGTGAGTCATGGACACCAAAGCCAGCTGGGGCCAGGCAGGTAGCACCATGAGTGAAGTGGGCCAGGCCAGGGGTGATAGGGAGCAGTGGAGACTGTGGCAACCCAGAGAGAGTGGCTCCTACTTGGCTCGTGTCCATGCAGAATGGGCTCTAGTGCCCGTG
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Task1_train_22738
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A mutation found in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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ACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCTATCTCAGCCCCCCAGAGTGCTCGGTTTACAGGCATGAGCCACCATGCCTGGCCAGAGCCCCAACTTTCTTATGTCTCCAGATGTGCTGGTTCTGGGCACTTTCTCGGAATGCCCAGGACCTGGGAAACTGACTTGGAAGCCTGTGGGGGCTTGTGTCACCTTGGCCAATTCTAACTCTTGGGGGCACTGGGAGGGATGTAGGGTGTTGGTGACCAAGCGAGAACTAGAATCGAGGATTCTGGAATTCAGATATTTCCTCCCATCAGTCATCTTTCTCCCAATAAAGTTTTGTTTTGTGCAAAACAAAAATTTTTAAGATTATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGAGAATCAGCACATCTGGAGACATCAGAAAGTTGGGGCTCTGGCCAGGTGGATCACCAACTCTGCCCCTCTGATGGGTTCCCCATCTCACCCCTATCCCCTGGCAGGCCGCAGGTCTCGGGAGAATGAAGCCCAACATTCTGGTGGTTGGGTTCAAGAAGAACTGGCAGTCGGCTCACCCGGCCACAGTGGAAGACTACATTGGCATCCTCCAGTGAGTCGGGGGAGAGGAAGGGGCTTGGGGTCTGTTAATTTGGGCCCATTGGGCCTTGAGAAGTGGAAAAGAAGTAGTGGGTGCTTAAAAAGTTGAGTCCTGCTGGGCAAAGTGGCTGGCATCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAGCTCACTTGAGCCCAGGAGTTGAAGGCTGCAGTGAGCAAAGATTGCACTGCTGCACTCCAGCCTAGGCGAAAGAGCAAGACCCCATCTTTGAAAAAGAAGTTGAGTCCATTTTCTCAAAGCTAAAGAAGAAACACGCTGAGGCTGAAGATGCCCGTCTCTGACCTGTGAGTCATGGACACCAAAGCCAGCTGGGGCCAGGCAGGTAGCACCATGAGTGAAGTGGGCCAGGCCAGGGGTGATAGGGAGCAGTGGAGACTGTGGCAACCCAGAGAGAGTGGCTCCTACTTGGCTCGTGTCCATGCAGAATGGGCTCTAGTGCCCGTGCAGAAATGTGGGCCCAATGTTGCCAGATCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACACTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGTGCCCGGCCACCAGATCTTTTAATTTTTCAGAGTAACTGCAAATGTGAGTTTTTAGGTGAGAACCTCATGCCTCCCTGTGGGCTCCAGAAGGTGCACAGGGAACCAGCTCAAGAGCTCTGAGGCGGTGCCCCTGAACAGGGAAGTGAAACCAGGACCTGAGGACGGAACTCCCTGGGGACTTCAGGGCTGACTCCAAACTCTTCATCAGTGCTTGCTGTGTGATGTCCAGAGATGCCTCCCTCAGTGGCTTTTCTGTGTTGATGTTGTTGTGTGAGGTATCACTGAACAACATGAGGCTGAGGGTTGGGGCCCTGAGACCTGCTTCCAGGTATGCTGTTAACCAGCTGTAGGACTCGGAGCAATCCTCTCAGCAGGTGCTAACAGAATTACAGCAGCAACTGATAGAATACCTGATCTCCAGCCTCCCTCCAGCTCCAACATTCCAAACCTTCAAAAAGCAGGGCCTGAAAGTTCCTTGTCCTGGAGATATGTGATCTAAGGAGCCCAGGGAGGGCAGTGCGCAGCCCATTGGCCCAAACCCCAGTGGTGGGCGGGCTCTTGGGCACTGTGTCAATCAGGCAGTACATACACCTTTGGAACAAGAGTCTTCCAGACATCTTTAATTATTTTATTTTATTTATTTTTGAGACAGAGTCTTGTTCTGTCGCCCCGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCCTCAGTCTCCCAAGTAGCTGTGATTACAGGTGCCCACCACCACGCCCGGCTAATTTTTGTACGTTTTAGTAGAAATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCGTAAACCACTGCGCCCGGCCTCCAGACATCTTTATAGACAGCCTATTGCAGGAGTAAAGCTCCTCTCATGAGCATGTCTGTCCTTTGGTCCACAGTCTCAGCCATGTGATTCTAATCCCAGCTGCTCACTCCCTTAGCTGTGTGACCATGGGCAAGTTACTCTCCAAAACTCAGTTTTTGCATCCATAGAATGGAGGGAATAATTACCATCCCCACCTCCATGGGCAGAG
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ACAGAGAGGTTAAGTAACTGGCCCCAGGTCACACAGCTGGCAAGTGGCCGATTAAGTCTGGCTCCAGTTGACTCAGGTCATGGCCCTTGACCACTGCCCTCTGCTACCTCTCGACGCAGAGGCTGAGTCACCTTCCCGGGTAACTGATGAGTTTGTAAGTGACAGGTTTCCTCACTCCCAGGCTTTGTTCTTTCCCCCACCATGCTGGGCTAGGCAGGGCAGGGGACATGCATGGGGGGTAGCATTTTGTGGCCTGAGCAGGAAGGACCAGGGAGACTAGTGTGGAGGTCACCAAAAGAGCAGGAAGAGCCCCAAAAGTCACCCTGGATTTATAGGTGGGAAGCCGAGGCCCCAAGCATGTAGGGTCATGCTGGTGGCCACACCACCATTCAGGGAGCCTGGGAGGTGCCTTTCGCACCCAGACCCCCGTGGGCTCTCTCCTGATGGCTCCTGCCCTTTTCCCTTCCCTCCTCAGCCCCCAGTGCCTGGTGCTCACGGGGCCCCCCAACTTCCGCCCGGCCCTGGTGGACTTTGTGGGCACCTTCACCCGGAACCTCAGCCTGATGATCTGTGGCCACGTGCTCATCGTGAGTGGCCCCTGGAGGGGCACAGGGGACCAGGCATGGTGGCTCATGCCTGTAAACCCAGCACTCTGGGGAGCCAAGACAGGTGGATCACCCGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGCTCCTGGGGGAGTCGCCTGGGTGTGATGTCCACCCACAGAGTGGGGGCCGAGGGGATGCGGAGCAAGGGGCACCCAGCCAGGCACCCCCCATGGACCCCATTCTCTCCCCTTCCTGGCCCCTCTTGCTGGCTTCTCCCCCAGCTGCCCTGCCTCTTTTCTGCCCCCTCCCTCTCCCTTCCTCCCCACTTTCTCCCCCACTCCTTGTGTTTTCCCTTATCTGGGCAAAAGAAAAGGGCACCGTGGGTGCTGCCAAGCCCCTGGGGCAGCCTCCAGGGCAGGAGAGGGGTTGAATCTCAGGCTGGAGGGTGAAGGCAGCTGGTGATGTCCCCTGCCCCTCCCACCCACAGGGACCCCACAAGCAGAGGATGCCTGAGCTCCAGCTCATCGCCAACGGGCACACCAAGTGGCTGAACAAGAGGAAGATCAAGGCCTTCTACTCGGATGTCATTGCCGAGGACCTCCGCAGAGGCGTCCAGATCCTCATGCAGGTGCCATGGACTGGGGGCTCCCCTACAGGACTTACGGCTTGGTGGCACAACCTGGAAGGCAGAAAGTCTTGGCGGCCCCTTTGCTTAAGCCCCTTTTGCTGCAGAAGGAGCCCCAACTTTTTTTTTTTGAGACTTGTTTTACTTGTCACCCAGGCTGGAGTGCAATGGTGTGATGTCAGCTCACTGCAATAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCACCCACCACCACACCCGGCTAGTTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTCAGGTGATCCACCTATCTCAGCCCCCCAGAGTGCTCGGTTTACAGGCATGAGCCACCATGCCTGGCCAGAGCCCCAACTTTCTTATGTCTCCAGATGTGCTGGTTCTGGGCACTTTCTCGGAATGCCCAGGACCTGGGAAACTGACTTGGAAGCCTGTGGGGGCTTGTGTCACCTTGGCCAATTCTAACTCTTGGGGGCACTGGGAGGGATGTAGGGTGTTGGTGACCAAGCGAGAACTAGAATCGAGGATTCTGGAATTCAGATATTTCCTCCCATCAGTCATCTTTCTCCCAATAAAGTTTTGTTTTGTGCAAAACAAAAATTTTTAAGATTATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGAGAATCAGCACATCTGGAGACATCAGAAAGTTGGGGCTCTGGCCAGGTGGATCACCAACTCTGCCCCTCTGATGGGTTCCCCATCTCACCCCTATCCCCTGGCAGGCCGCAGGTCTCAGGAGAATGAAGCCCAACATTCTGGTGGTTGGGTTCAAGAAGAACTGGCAGTCGGCTCACCCGGCCACAGTGGAAGACTACATTGGCATCCTCCAGTGAGTCGGGGGAGAGGAAGGGGCTTGGGGTCTGTTAATTTGGGCCCATTGGGCCTTGAGAAGTGGAAAAGAAGTAGTGGGTGCTTAAAAAGTTGAGTCCTGCTGGGCAAAGTGGCTGGCATCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAGCTCACTTGAGCCCAGGAGTTGAAGGCTGCAGTGAGCAAAGATTGCACTGCTGCACTCCAGCCTAGGCGAAAGAGCAAGACCCCATCTTTGAAAAAGAAGTTGAGTCCATTTTCTCAAAGCTAAAGAAGAAACACGCTGAGGCTGAAGATGCCCGTCTCTGACCTGTGAGTCATGGACACCAAAGCCAGCTGGGGCCAGGCAGGTAGCACCATGAGTGAAGTGGGCCAGGCCAGGGGTGATAGGGAGCAGTGGAGACTGTGGCAACCCAGAGAGAGTGGCTCCTACTTGGCTCGTGTCCATGCAGAATGGGCTCTAGTGCCCGTGCAGAAATGTGGGCCCAATGTTGCCAGATCTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACACTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGTGCCCGGCCACCAGATCTTTTAATTTTTCAGAGTAACTGCAAATGTGAGTTTTTAGGTGAGAACCTCATGCCTCCCTGTGGGCTCCAGAAGGTGCACAGGGAACCAGCTCAAGAGCTCTGAGGCGGTGCCCCTGAACAGGGAAGTGAAACCAGGACCTGAGGACGGAACTCCCTGGGGACTTCAGGGCTGACTCCAAACTCTTCATCAGTGCTTGCTGTGTGATGTCCAGAGATGCCTCCCTCAGTGGCTTTTCTGTGTTGATGTTGTTGTGTGAGGTATCACTGAACAACATGAGGCTGAGGGTTGGGGCCCTGAGACCTGCTTCCAGGTATGCTGTTAACCAGCTGTAGGACTCGGAGCAATCCTCTCAGCAGGTGCTAACAGAATTACAGCAGCAACTGATAGAATACCTGATCTCCAGCCTCCCTCCAGCTCCAACATTCCAAACCTTCAAAAAGCAGGGCCTGAAAGTTCCTTGTCCTGGAGATATGTGATCTAAGGAGCCCAGGGAGGGCAGTGCGCAGCCCATTGGCCCAAACCCCAGTGGTGGGCGGGCTCTTGGGCACTGTGTCAATCAGGCAGTACATACACCTTTGGAACAAGAGTCTTCCAGACATCTTTAATTATTTTATTTTATTTATTTTTGAGACAGAGTCTTGTTCTGTCGCCCCGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCCTCAGTCTCCCAAGTAGCTGTGATTACAGGTGCCCACCACCACGCCCGGCTAATTTTTGTACGTTTTAGTAGAAATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCGTAAACCACTGCGCCCGGCCTCCAGACATCTTTATAGACAGCCTATTGCAGGAGTAAAGCTCCTCTCATGAGCATGTCTGTCCTTTGGTCCACAGTCTCAGCCATGTGATTCTAATCCCAGCTGCTCACTCCCTTAGCTGTGTGACCATGGGCAAGTTACTCTCCAAAACTCAGTTTTTGCATCCATAGAATGGAGGGAATAATTACCATCCCCACCTCCATGGGCAGAG
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Task1_train_22739
|
An alteration has been detected in SLC12A3 (solute carrier family 12 member 3) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; not provided
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AAAAAAAAAAAAAGATGTAATAGAAAACCAGGAAAGAGGGGAGAGGAAAATGCCTGCAGGAAGATGCCAGAATATGAAAATACATAATGACCATGGGAACCGGGCATTTTGGTCCACTGAGTAGGGATGTGTTTTGCATTTTAAAGTCATATATGACTGCAGACTCTGAATTAGAAATATTTAGAGAGGCTGGGTGTGGTGGCTCGTTTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCGCTTGAGTCTAGGAGTTCAACACCAGCCTGGGTAACATAGCAAGACCCCATCTCTACTAAAACAAAAAATTAACCAGGTGTGGTGGCACGTGTCTGGAGTCTCAGCTACTTGGGAAGCTGAGATGGGAGGATCGCTTGAGGCCAGGAGTTTGAGGCTGCAGTGAGCCGTGATTGCACCACTGCACTCCAGCCTGGCTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGGAAATATCTAGAGGTGTGAAAGCAATAACGTGTATGGCAACAAATGAGAGGCAGTGCTGGAGAGACTGGGAGCTTGGAGTCCGCGTCTCTTGCAGCCAGGAGCTGGGTCCGTTCATTTGTGCCATTGCTGAGGGCATGTCTGGCACACGGATGCCACCAATATTTACAGAGCAGTAACTCCACTCCTGACCAACGCTGCTCTTGGTGCTGGGGTTACAGGCACACCAAAAGCCAAAAAGCCTCTGCTCTTGAGAAGCTGACGCTCCAGAGGGAAAAGCAGACACTTGCCAGTGGACCCATAAGTTATTTCAGATTGTGAGAGTGTCTGGAGAAAACGGGTGCAGGGCGTAGTGGCCAGGGAAGGCCTCCCTCAGGAGGGGGCCTTTTGCTGAGGAGGCCAGGGCTAGGGGAAGTATGTTCCAGCTCAGGGCGCACCCACCGCCACGGCCCAAGGTGGGGATGAACGTGGCCTGTTTGAGGGGCAAGAGGAGGCCATGCGCGACTGGAATGTGAGGAGCCGGGCAGGAGGCAGGTCAGAGGGAGGCCAAGGCCAGGTGCAGTGGGGCTGTGGAGGCCAGGTGGGGCATCGGGACTTTCTTCCTAGCATTAAGGGAGCCCTGTCAAGGAGGAACCCACGGTGCCCTCAGACAAGGAGAGCCTGTGAACAAAGCTGCCTCTTCTTTTGCAGTTAACCCCGTGTTTGACCCAGCGGAGGACGGGAAGGAAGCCAGCGCCAGAGGTGCCAGGCCATCAGTCTCTGGCGCTTGTCAGTGTTCCCACTCAGAGCTCAGGGCACTCTAGCCCTGTGGGGTGGCTAGGGGTGGGCCACTTGGGAACTTGGTCGAGGACAGGTGGTTTTTTCTTGTGACGGTGGTGCCTGAGTAACTGGAGTTGGGAACTGGAGGGGCTTGGCCGTGTCAAAGATTGCCAGCAGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTGTGGGAGGCTGAGGCAGGAGTTCCAGGCTGCAGTGAGCTGTGACCGCACCACTACATTGCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAATATTGCCAGGAGGTGGAGAATTCAGGGTCACGGCATCATGGGGACCCACCTAGCAGGCTCTGGGGCCCTTGTCCCACCCCTGCCAAGGCCCCTCTAGCCATGCAGGGTGGGGTGGGATTTTCCTTCGTCCTCTCCCACCATCACTCCGGGAGACAGGGGGCCTGAAGTGCAGGCGGGAGGGCTGCTGTGGGCATTTGTGAAGGGTGCAGGAGGTGTTTAAGGGAATGGAGAGTGCACTTCCCTACCTACCCAGAGGGCTCTGGGACTGCCCCCACCCCCAGTACTCACCAGAATCCCGGGAGAGAGAAGCTGAAAGCAGGGCAGGGGCACATCACAGCACTGAGCGTCCTGGGCCCCGGTTCCTGTTCCACCTGCCAGAGAACCCGTGTTCAACATCAGAAGGGGCGTTGGCGGGGCCCTGGGCCAGGCCTGCCTGGATGCGCGGCTGCTGGCTCTGCTCTGACCCGCCCCCACCTCCTGCAGTGGACCCCAAGGCCCTGGTGAAGGAGGAGCAGGCCACCACCATCTTCCAGTCGGAGCAGGGCAAGAAGACCATAGACATCTACTGGCTCTTTGACGATGGAGGTCAGTGACCCCCTTGGATCAGCCCTCCTGCCCGGCGGGGGCGGGGTGGTGGTGGTCTTCCTTCCTTCTCCTTCCTGGCCTGCTCTCAAAGGGGACAGGGGCTCCTGGGCCCAGCAGTGAGCTCAGGGGAGCCCAGAGGGACCCCTCTGTCTGGCCTCTAGTTTTTTGGTTATAAAATGGGAAGCTTTGAGAGAAGAGCTGAAGTCGCCATGAGATGGAAACTTCTGACTGGATGGCCCTTAGGGGCACAGGCAGGTGATATAAATGGGGAGATGGGCGGTGCCCAGGAAAGCTGGAGGAATATTTTTCACTTCACAATGAAATATAACCTCTCCCATTAAAAAACAAAAAAAGTGACTTTAAGCTTTATTGCTCCTACCTTTGATAGAGTCACAGATAGAAAGAAAATGTCTTCGCTCCAATGGAACGAGTCCTATTAATAACTGCCAAAATAGGCTGAGCACTTACTACCTGGCTGACAGGGAATTCCCTACCTAATCCAGTCCCCAGGTAGGAGCTGTCATGATTAACTCCGCTTTATAAATAAGGAAAATGAGGCACAGAGGATTACAAGGTGATATGTGACAGCTGGCCCTTGGTCTTGTGTGGAGAGACAACAGAGAGGGATGAGGGCTCCCACACGCTGGTCAAATATTCACTCTTCAAGAACTGCCAATGACCTCGATTTTTATGTGAAACTCCTCAATTATTAAATGACTTTTGTTTTTTATTATTCTTTTTGAGACGGAGTCTTACTTTGTCGCCCAGGCTGAAGTGCAGTGGCATGATGTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGGCTGCCACCACACCCAGCTAATTTTTGTATTTTTATTTTTATTTTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGAGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGTGCACCATCAGGCCCAGCTAATTTTTTGTGTTATTAGTAGAGATAGGGTTTTACCATGTTGGCCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCATAGTGCTGGGATTATAGGCATGAGCCATGGCGCCCGGCCGCCAGCTTGTTTATTTAAATATGCTGCACAAGCACAAATAAACCCTACCCCACAGAGCACCGTGTGCGACTTGAATTCAGTCAGCCATGTTCATTATACAGATGGGTCGACTGGGGTCCAGCGAGGAGAGGAAGGGGTTTGCTAATGGCAGAGCGGGGCAGGAACTCACATAGTGCTCTGTCCTGAGTGTATTCTTGTCATGACTCACGGGGACTCTCCTTGCCAGGCCTCACCCTCCTCATTCCCTATCTCCTTGGCCGCAAGAGGAGGTGGAGCAAATGCAAGATCCGTGTGTTCGTAGGCGGCCAGATTAACAGGATGGACCAGGAGAGAAAGGCGTAAGTGTGGAGGGCTGGCCTGGGGGTGACTGCAGGGACCAGTGTCATCTTAGCTCCACCCAAGGCTGTCCCCTACCCTAGATCCTCTACCACCACCCCCAGGTGGGCACTGAGATTGTCCCAAAGCCCAGGGCCAGCTCTCTCCAGGCCATGGCAGTGGGCAGGAGCAGGAGCAGGTTTCTCTCCATTCCAGAAGTTGTTCTGGTTTCCTGCCCCCTTCAATAAATGCAGATGCCCTAGGCTTTGCTACGACAGGGAGGGGAGTTAGGTTGTAAAGTCACAAATCTCTGGGTTTGGATAACAAGAAGCATAAAAATAAGAAAGAAAAGGAATCCATTTTTTAAATTTAAAGTTAAGA
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AAAAAAAAAAAAAGATGTAATAGAAAACCAGGAAAGAGGGGAGAGGAAAATGCCTGCAGGAAGATGCCAGAATATGAAAATACATAATGACCATGGGAACCGGGCATTTTGGTCCACTGAGTAGGGATGTGTTTTGCATTTTAAAGTCATATATGACTGCAGACTCTGAATTAGAAATATTTAGAGAGGCTGGGTGTGGTGGCTCGTTTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCGCTTGAGTCTAGGAGTTCAACACCAGCCTGGGTAACATAGCAAGACCCCATCTCTACTAAAACAAAAAATTAACCAGGTGTGGTGGCACGTGTCTGGAGTCTCAGCTACTTGGGAAGCTGAGATGGGAGGATCGCTTGAGGCCAGGAGTTTGAGGCTGCAGTGAGCCGTGATTGCACCACTGCACTCCAGCCTGGCTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGGAAATATCTAGAGGTGTGAAAGCAATAACGTGTATGGCAACAAATGAGAGGCAGTGCTGGAGAGACTGGGAGCTTGGAGTCCGCGTCTCTTGCAGCCAGGAGCTGGGTCCGTTCATTTGTGCCATTGCTGAGGGCATGTCTGGCACACGGATGCCACCAATATTTACAGAGCAGTAACTCCACTCCTGACCAACGCTGCTCTTGGTGCTGGGGTTACAGGCACACCAAAAGCCAAAAAGCCTCTGCTCTTGAGAAGCTGACGCTCCAGAGGGAAAAGCAGACACTTGCCAGTGGACCCATAAGTTATTTCAGATTGTGAGAGTGTCTGGAGAAAACGGGTGCAGGGCGTAGTGGCCAGGGAAGGCCTCCCTCAGGAGGGGGCCTTTTGCTGAGGAGGCCAGGGCTAGGGGAAGTATGTTCCAGCTCAGGGCGCACCCACCGCCACGGCCCAAGGTGGGGATGAACGTGGCCTGTTTGAGGGGCAAGAGGAGGCCATGCGCGACTGGAATGTGAGGAGCCGGGCAGGAGGCAGGTCAGAGGGAGGCCAAGGCCAGGTGCAGTGGGGCTGTGGAGGCCAGGTGGGGCATCGGGACTTTCTTCCTAGCATTAAGGGAGCCCTGTCAAGGAGGAACCCACGGTGCCCTCAGACAAGGAGAGCCTGTGAACAAAGCTGCCTCTTCTTTTGCAGTTAACCCCGTGTTTGACCCAGCGGAGGACGGGAAGGAAGCCAGCGCCAGAGGTGCCAGGCCATCAGTCTCTGGCGCTTGTCAGTGTTCCCACTCAGAGCTCAGGGCACTCTAGCCCTGTGGGGTGGCTAGGGGTGGGCCACTTGGGAACTTGGTCGAGGACAGGTGGTTTTTTCTTGTGACGGTGGTGCCTGAGTAACTGGAGTTGGGAACTGGAGGGGCTTGGCCGTGTCAAAGATTGCCAGCAGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTGTGGGAGGCTGAGGCAGGAGTTCCAGGCTGCAGTGAGCTGTGACCGCACCACTACATTGCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAAAATATTGCCAGGAGGTGGAGAATTCAGGGTCACGGCATCATGGGGACCCACCTAGCAGGCTCTGGGGCCCTTGTCCCACCCCTGCCAAGGCCCCTCTAGCCATGCAGGGTGGGGTGGGATTTTCCTTCGTCCTCTCCCACCATCACTCCGGGAGACAGGGGGCCTGAAGTGCAGGCGGGAGGGCTGCTGTGGGCATTTGTGAAGGGTGCAGGAGGTGTTTAAGGGAATGGAGAGTGCACTTCCCTACCTACCCAGAGGGCTCTGGGACTGCCCCCACCCCCAGTACTCACCAGAATCCCGGGAGAGAGAAGCTGAAAGCAGGGCAGGGGCACATCACAGCACTGAGCGTCCTGGGCCCCGGTTCCTGTTCCACCTGCCAGAGAACCCGTGTTCAACATCAGAAGGGGCGTTGGCGGGGCCCTGGGCCAGGCCTGCCTGGATGCGCGGCTGCTGGCTCTGCTCTGACCCGCCCCCACCTCCTGCAGAGGACCCCAAGGCCCTGGTGAAGGAGGAGCAGGCCACCACCATCTTCCAGTCGGAGCAGGGCAAGAAGACCATAGACATCTACTGGCTCTTTGACGATGGAGGTCAGTGACCCCCTTGGATCAGCCCTCCTGCCCGGCGGGGGCGGGGTGGTGGTGGTCTTCCTTCCTTCTCCTTCCTGGCCTGCTCTCAAAGGGGACAGGGGCTCCTGGGCCCAGCAGTGAGCTCAGGGGAGCCCAGAGGGACCCCTCTGTCTGGCCTCTAGTTTTTTGGTTATAAAATGGGAAGCTTTGAGAGAAGAGCTGAAGTCGCCATGAGATGGAAACTTCTGACTGGATGGCCCTTAGGGGCACAGGCAGGTGATATAAATGGGGAGATGGGCGGTGCCCAGGAAAGCTGGAGGAATATTTTTCACTTCACAATGAAATATAACCTCTCCCATTAAAAAACAAAAAAAGTGACTTTAAGCTTTATTGCTCCTACCTTTGATAGAGTCACAGATAGAAAGAAAATGTCTTCGCTCCAATGGAACGAGTCCTATTAATAACTGCCAAAATAGGCTGAGCACTTACTACCTGGCTGACAGGGAATTCCCTACCTAATCCAGTCCCCAGGTAGGAGCTGTCATGATTAACTCCGCTTTATAAATAAGGAAAATGAGGCACAGAGGATTACAAGGTGATATGTGACAGCTGGCCCTTGGTCTTGTGTGGAGAGACAACAGAGAGGGATGAGGGCTCCCACACGCTGGTCAAATATTCACTCTTCAAGAACTGCCAATGACCTCGATTTTTATGTGAAACTCCTCAATTATTAAATGACTTTTGTTTTTTATTATTCTTTTTGAGACGGAGTCTTACTTTGTCGCCCAGGCTGAAGTGCAGTGGCATGATGTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGGCTGCCACCACACCCAGCTAATTTTTGTATTTTTATTTTTATTTTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGAGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGTGCACCATCAGGCCCAGCTAATTTTTTGTGTTATTAGTAGAGATAGGGTTTTACCATGTTGGCCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCATAGTGCTGGGATTATAGGCATGAGCCATGGCGCCCGGCCGCCAGCTTGTTTATTTAAATATGCTGCACAAGCACAAATAAACCCTACCCCACAGAGCACCGTGTGCGACTTGAATTCAGTCAGCCATGTTCATTATACAGATGGGTCGACTGGGGTCCAGCGAGGAGAGGAAGGGGTTTGCTAATGGCAGAGCGGGGCAGGAACTCACATAGTGCTCTGTCCTGAGTGTATTCTTGTCATGACTCACGGGGACTCTCCTTGCCAGGCCTCACCCTCCTCATTCCCTATCTCCTTGGCCGCAAGAGGAGGTGGAGCAAATGCAAGATCCGTGTGTTCGTAGGCGGCCAGATTAACAGGATGGACCAGGAGAGAAAGGCGTAAGTGTGGAGGGCTGGCCTGGGGGTGACTGCAGGGACCAGTGTCATCTTAGCTCCACCCAAGGCTGTCCCCTACCCTAGATCCTCTACCACCACCCCCAGGTGGGCACTGAGATTGTCCCAAAGCCCAGGGCCAGCTCTCTCCAGGCCATGGCAGTGGGCAGGAGCAGGAGCAGGTTTCTCTCCATTCCAGAAGTTGTTCTGGTTTCCTGCCCCCTTCAATAAATGCAGATGCCCTAGGCTTTGCTACGACAGGGAGGGGAGTTAGGTTGTAAAGTCACAAATCTCTGGGTTTGGATAACAAGAAGCATAAAAATAAGAAAGAAAAGGAATCCATTTTTTAAATTTAAAGTTAAGA
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Task1_train_22740
|
The gene SLC12A3 (solute carrier family 12 member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Familial hypokalemia-hypomagnesemia
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CCACCTAGCAGGCTCTGGGGCCCTTGTCCCACCCCTGCCAAGGCCCCTCTAGCCATGCAGGGTGGGGTGGGATTTTCCTTCGTCCTCTCCCACCATCACTCCGGGAGACAGGGGGCCTGAAGTGCAGGCGGGAGGGCTGCTGTGGGCATTTGTGAAGGGTGCAGGAGGTGTTTAAGGGAATGGAGAGTGCACTTCCCTACCTACCCAGAGGGCTCTGGGACTGCCCCCACCCCCAGTACTCACCAGAATCCCGGGAGAGAGAAGCTGAAAGCAGGGCAGGGGCACATCACAGCACTGAGCGTCCTGGGCCCCGGTTCCTGTTCCACCTGCCAGAGAACCCGTGTTCAACATCAGAAGGGGCGTTGGCGGGGCCCTGGGCCAGGCCTGCCTGGATGCGCGGCTGCTGGCTCTGCTCTGACCCGCCCCCACCTCCTGCAGTGGACCCCAAGGCCCTGGTGAAGGAGGAGCAGGCCACCACCATCTTCCAGTCGGAGCAGGGCAAGAAGACCATAGACATCTACTGGCTCTTTGACGATGGAGGTCAGTGACCCCCTTGGATCAGCCCTCCTGCCCGGCGGGGGCGGGGTGGTGGTGGTCTTCCTTCCTTCTCCTTCCTGGCCTGCTCTCAAAGGGGACAGGGGCTCCTGGGCCCAGCAGTGAGCTCAGGGGAGCCCAGAGGGACCCCTCTGTCTGGCCTCTAGTTTTTTGGTTATAAAATGGGAAGCTTTGAGAGAAGAGCTGAAGTCGCCATGAGATGGAAACTTCTGACTGGATGGCCCTTAGGGGCACAGGCAGGTGATATAAATGGGGAGATGGGCGGTGCCCAGGAAAGCTGGAGGAATATTTTTCACTTCACAATGAAATATAACCTCTCCCATTAAAAAACAAAAAAAGTGACTTTAAGCTTTATTGCTCCTACCTTTGATAGAGTCACAGATAGAAAGAAAATGTCTTCGCTCCAATGGAACGAGTCCTATTAATAACTGCCAAAATAGGCTGAGCACTTACTACCTGGCTGACAGGGAATTCCCTACCTAATCCAGTCCCCAGGTAGGAGCTGTCATGATTAACTCCGCTTTATAAATAAGGAAAATGAGGCACAGAGGATTACAAGGTGATATGTGACAGCTGGCCCTTGGTCTTGTGTGGAGAGACAACAGAGAGGGATGAGGGCTCCCACACGCTGGTCAAATATTCACTCTTCAAGAACTGCCAATGACCTCGATTTTTATGTGAAACTCCTCAATTATTAAATGACTTTTGTTTTTTATTATTCTTTTTGAGACGGAGTCTTACTTTGTCGCCCAGGCTGAAGTGCAGTGGCATGATGTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGGCTGCCACCACACCCAGCTAATTTTTGTATTTTTATTTTTATTTTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGAGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGTGCACCATCAGGCCCAGCTAATTTTTTGTGTTATTAGTAGAGATAGGGTTTTACCATGTTGGCCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCATAGTGCTGGGATTATAGGCATGAGCCATGGCGCCCGGCCGCCAGCTTGTTTATTTAAATATGCTGCACAAGCACAAATAAACCCTACCCCACAGAGCACCGTGTGCGACTTGAATTCAGTCAGCCATGTTCATTATACAGATGGGTCGACTGGGGTCCAGCGAGGAGAGGAAGGGGTTTGCTAATGGCAGAGCGGGGCAGGAACTCACATAGTGCTCTGTCCTGAGTGTATTCTTGTCATGACTCACGGGGACTCTCCTTGCCAGGCCTCACCCTCCTCATTCCCTATCTCCTTGGCCGCAAGAGGAGGTGGAGCAAATGCAAGATCCGTGTGTTCGTAGGCGGCCAGATTAACAGGATGGACCAGGAGAGAAAGGCGTAAGTGTGGAGGGCTGGCCTGGGGGTGACTGCAGGGACCAGTGTCATCTTAGCTCCACCCAAGGCTGTCCCCTACCCTAGATCCTCTACCACCACCCCCAGGTGGGCACTGAGATTGTCCCAAAGCCCAGGGCCAGCTCTCTCCAGGCCATGGCAGTGGGCAGGAGCAGGAGCAGGTTTCTCTCCATTCCAGAAGTTGTTCTGGTTTCCTGCCCCCTTCAATAAATGCAGATGCCCTAGGCTTTGCTACGACAGGGAGGGGAGTTAGGTTGTAAAGTCACAAATCTCTGGGTTTGGATAACAAGAAGCATAAAAATAAGAAAGAAAAGGAATCCATTTTTTAAATTTAAAGTTAAGAAAAGACAAGAAAAATAGAAAAAAAAAAAGATAAAAAGAAAAACAAAAAACAAATCTCCTCCAGGAGGAACCTGTATGAAATGAAGGATGGGCTGGGCCAAGGCAGCTGGATCCAGGAGTCCAGGAGTTCGAGACCAACCTGGGTGACATGGCAAAATCCTGTCTCTATGTTTTAAATTTTTATATATTTTAATTTTTTTTTTTTTTTTTGAGATGGATTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGACGCAATCTCGGCTCATTGCAACCTCCGCCCCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAACCAGGATTAGAGGCGTGCGCTACCATGCCCAGATAGTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCCAGCCAATATTTTAAATTTTTATATAAATATTTTATATATATTTAAAAATTTATATATAATTTTTTGAAAAAAGGAAATGAAGGCTGGAGAACACGCCTCCTCCTGAGAAATGAAGTAGGGGCTAGAATCCTTTAGGGCATCAGTCCCCAACCTTTTTGGCACCAGGGACTGGTTTCGTGGAAGACAATTTTTCCACAGGCTTGGGGGAGAGTGGTGGTTTTGGGATGGTTCAAGCTCATTACATTTATTGTGCACTTTATTTCTATTATGATTACATGGTAACATATAATTTAAAAATGATACAACTCACCATAATGTAGAATCAGTGGGAGCCCCGAGCTTGTTTTCCTGCAACTAGATGGTTCCATTTGGGAGTGATGGGAGACAGTGACAGATCATCAGGAGGGTTCATGGCCCTCTAAGATCCTGCAAGAGGGTTTGTGGCCCTCTAAGAGTCTAATGCCACTGCTGATCTGACAGGAGGCAGAGGTCAGATGGTAATGAAAGCGATGAGGAGCTGCTGTAAATACAGATAAAGCTGCATTCACTGCCATGCACCCGGTTCCTAACAGGCCATGGTCAGTACCTGTTGGCAGCCCCGGGGGTCAGGGGCCCCTGCTTTAAGGCAGTGTCTCCAATGCATGGGATGCAGACTCTGGGTGAGACAAGAGGTGACTTTAGTGGCCAGGGGTTGAGGCAGCAAATACCACTGAGTCTTTTGGTGAGAAGTGCCTTTTAATTCTCCTCCAATTCTGGGGCTGATTCTGCAGAAAGTCCTGGTTTAGCCTTGGCCCGTCCTTCCCTTTGGTAACCTGTGCTTGTCTCCCGGAGCAAGAGGAGTAGGCTGGATGCATGGGCTTGGCAGGCAATGGCATCTGGCCAGAACTTAGTGACCCTGGTTTATCGACATGGGTTTTATTGGACACCTCTCCCTGGCAAGAGGTGCTGGTTTTCTGTTTAAAATTGTGATGTTGGCTGGGCACAGTGGCTCTGCCTATAGATCTTGGCACTCTGGCAGCAGGCCAAGGCAGGGGATTGCTTGAGGCCAAGGGTTTGAGACCAGGCTGGGCAACATAGTGAGAGCCCATCTCTACCAAAAAACTTAAAAAAAAAATTAACTG
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CCACCTAGCAGGCTCTGGGGCCCTTGTCCCACCCCTGCCAAGGCCCCTCTAGCCATGCAGGGTGGGGTGGGATTTTCCTTCGTCCTCTCCCACCATCACTCCGGGAGACAGGGGGCCTGAAGTGCAGGCGGGAGGGCTGCTGTGGGCATTTGTGAAGGGTGCAGGAGGTGTTTAAGGGAATGGAGAGTGCACTTCCCTACCTACCCAGAGGGCTCTGGGACTGCCCCCACCCCCAGTACTCACCAGAATCCCGGGAGAGAGAAGCTGAAAGCAGGGCAGGGGCACATCACAGCACTGAGCGTCCTGGGCCCCGGTTCCTGTTCCACCTGCCAGAGAACCCGTGTTCAACATCAGAAGGGGCGTTGGCGGGGCCCTGGGCCAGGCCTGCCTGGATGCGCGGCTGCTGGCTCTGCTCTGACCCGCCCCCACCTCCTGCAGTGGACCCCAAGGCCCTGGTGAAGGAGGAGCAGGCCACCACCATCTTCCAGTCGGAGCAGGGCAAGAAGACCATAGACATCTACTGGCTCTTTGACGATGGAGGTCAGTGACCCCCTTGGATCAGCCCTCCTGCCCGGCGGGGGCGGGGTGGTGGTGGTCTTCCTTCCTTCTCCTTCCTGGCCTGCTCTCAAAGGGGACAGGGGCTCCTGGGCCCAGCAGTGAGCTCAGGGGAGCCCAGAGGGACCCCTCTGTCTGGCCTCTAGTTTTTTGGTTATAAAATGGGAAGCTTTGAGAGAAGAGCTGAAGTCGCCATGAGATGGAAACTTCTGACTGGATGGCCCTTAGGGGCACAGGCAGGTGATATAAATGGGGAGATGGGCGGTGCCCAGGAAAGCTGGAGGAATATTTTTCACTTCACAATGAAATATAACCTCTCCCATTAAAAAACAAAAAAAGTGACTTTAAGCTTTATTGCTCCTACCTTTGATAGAGTCACAGATAGAAAGAAAATGTCTTCGCTCCAATGGAACGAGTCCTATTAATAACTGCCAAAATAGGCTGAGCACTTACTACCTGGCTGACAGGGAATTCCCTACCTAATCCAGTCCCCAGGTAGGAGCTGTCATGATTAACTCCGCTTTATAAATAAGGAAAATGAGGCACAGAGGATTACAAGGTGATATGTGACAGCTGGCCCTTGGTCTTGTGTGGAGAGACAACAGAGAGGGATGAGGGCTCCCACACGCTGGTCAAATATTCACTCTTCAAGAACTGCCAATGACCTCGATTTTTATGTGAAACTCCTCAATTATTAAATGACTTTTGTTTTTTATTATTCTTTTTGAGACGGAGTCTTACTTTGTCGCCCAGGCTGAAGTGCAGTGGCATGATGTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGGCTGCCACCACACCCAGCTAATTTTTGTATTTTTATTTTTATTTTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGAGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGTGCACCATCAGGCCCAGCTAATTTTTTGTGTTATTAGTAGAGATAGGGTTTTACCATGTTGGCCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCATAGTGCTGGGATTATAGGCATGAGCCATGGCGCCCGGCCGCCAGCTTGTTTATTTAAATATGCTGCACAAGCACAAATAAACCCTACCCCACAGAGCACCGTGTGCGACTTGAATTCAGTCAGCCATGTTCATTATACAGATGGGTCGACTGGGGTCCAGCGAGGAGAGGAAGGGGTTTGCTAATGGCAGAGCGGGGCAGGAACTCACATAGTGCTCTGTCCTGAGTGTATTCTTGTCATGACTCACGGGGACTCTCCTTGCCAGGCCTCACCCTCCTCATTCCCTATCTCCTTGGCTGCAAGAGGAGGTGGAGCAAATGCAAGATCCGTGTGTTCGTAGGCGGCCAGATTAACAGGATGGACCAGGAGAGAAAGGCGTAAGTGTGGAGGGCTGGCCTGGGGGTGACTGCAGGGACCAGTGTCATCTTAGCTCCACCCAAGGCTGTCCCCTACCCTAGATCCTCTACCACCACCCCCAGGTGGGCACTGAGATTGTCCCAAAGCCCAGGGCCAGCTCTCTCCAGGCCATGGCAGTGGGCAGGAGCAGGAGCAGGTTTCTCTCCATTCCAGAAGTTGTTCTGGTTTCCTGCCCCCTTCAATAAATGCAGATGCCCTAGGCTTTGCTACGACAGGGAGGGGAGTTAGGTTGTAAAGTCACAAATCTCTGGGTTTGGATAACAAGAAGCATAAAAATAAGAAAGAAAAGGAATCCATTTTTTAAATTTAAAGTTAAGAAAAGACAAGAAAAATAGAAAAAAAAAAAGATAAAAAGAAAAACAAAAAACAAATCTCCTCCAGGAGGAACCTGTATGAAATGAAGGATGGGCTGGGCCAAGGCAGCTGGATCCAGGAGTCCAGGAGTTCGAGACCAACCTGGGTGACATGGCAAAATCCTGTCTCTATGTTTTAAATTTTTATATATTTTAATTTTTTTTTTTTTTTTTGAGATGGATTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGACGCAATCTCGGCTCATTGCAACCTCCGCCCCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAACCAGGATTAGAGGCGTGCGCTACCATGCCCAGATAGTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCCCCCAGCCAATATTTTAAATTTTTATATAAATATTTTATATATATTTAAAAATTTATATATAATTTTTTGAAAAAAGGAAATGAAGGCTGGAGAACACGCCTCCTCCTGAGAAATGAAGTAGGGGCTAGAATCCTTTAGGGCATCAGTCCCCAACCTTTTTGGCACCAGGGACTGGTTTCGTGGAAGACAATTTTTCCACAGGCTTGGGGGAGAGTGGTGGTTTTGGGATGGTTCAAGCTCATTACATTTATTGTGCACTTTATTTCTATTATGATTACATGGTAACATATAATTTAAAAATGATACAACTCACCATAATGTAGAATCAGTGGGAGCCCCGAGCTTGTTTTCCTGCAACTAGATGGTTCCATTTGGGAGTGATGGGAGACAGTGACAGATCATCAGGAGGGTTCATGGCCCTCTAAGATCCTGCAAGAGGGTTTGTGGCCCTCTAAGAGTCTAATGCCACTGCTGATCTGACAGGAGGCAGAGGTCAGATGGTAATGAAAGCGATGAGGAGCTGCTGTAAATACAGATAAAGCTGCATTCACTGCCATGCACCCGGTTCCTAACAGGCCATGGTCAGTACCTGTTGGCAGCCCCGGGGGTCAGGGGCCCCTGCTTTAAGGCAGTGTCTCCAATGCATGGGATGCAGACTCTGGGTGAGACAAGAGGTGACTTTAGTGGCCAGGGGTTGAGGCAGCAAATACCACTGAGTCTTTTGGTGAGAAGTGCCTTTTAATTCTCCTCCAATTCTGGGGCTGATTCTGCAGAAAGTCCTGGTTTAGCCTTGGCCCGTCCTTCCCTTTGGTAACCTGTGCTTGTCTCCCGGAGCAAGAGGAGTAGGCTGGATGCATGGGCTTGGCAGGCAATGGCATCTGGCCAGAACTTAGTGACCCTGGTTTATCGACATGGGTTTTATTGGACACCTCTCCCTGGCAAGAGGTGCTGGTTTTCTGTTTAAAATTGTGATGTTGGCTGGGCACAGTGGCTCTGCCTATAGATCTTGGCACTCTGGCAGCAGGCCAAGGCAGGGGATTGCTTGAGGCCAAGGGTTTGAGACCAGGCTGGGCAACATAGTGAGAGCCCATCTCTACCAAAAAACTTAAAAAAAAAATTAACTG
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Task1_train_22741
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The gene SLC12A3 (solute carrier family 12 member 3) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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CTCACCCCCACTAAGAACTTTCTCCTGGGAAAGCCCCTTTTCTGCAATGCTAAGGAAAGTGTTGCTTGGGAAAAGCAGCATCTGCCTTCTCTGTGATCTCCAAAAAGTAAATAAGATACGAGATTGCTCTGCAGTCTCTGCTCCCTGTCCTGGCTCTGAATGGAAGCTGGGTTCAGTAGGTTTGGTATAGCTCAAGGCTATGGAAGCCTGGGCTAACAGCATGTCCTTGGTGGGAAGGTTAGGTAACCCTTCCTCTGCCTCCCTCTGTCCCTTGGTGGGCCGCATCCTCTGCTCTCTACATAATCCTGGGGCAAGTCTATGCTGCCCTTGCCTAGGCACTGCCCAGGCCTGCCAGCCTCCGCTGCTACTGCACACCAAGACAAATCTGCCCACGGCTCTGCTTTCAAAATTTCACTCCCCAAGATCAGGGACCAGCAACGGCTTGCCTGCTGGGTCCCAGCCTGGTCCTCCAGACTTGTTTCCCATTTCTTCCTCTCTCCCAGCACACTCCATGCATCCCAGCCAGCTCCTCACTGCCCTGTTCCACCCCCCTGCACCCCGATGCCTTCCCTCCTTTTGACTGTTCCCCACCAACCAGTCCAGTGGTCCCTAACCAGGCTGGCACATCAGAATCACCTGGGGCATTACCAAAACCATGTCCTTCCCAGGGGTTCTGACTCAATGATGGGCAAGGGGTTGGGGGGAGGGCCCAGGCAGGTGTATTTTTTTGTTAGTTTGATTTGGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGTCTGGAGTGCAGTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCTACCACGGCCGGCTAATTTTTTGTATTTTTAGTGGAGACGGGGTTTCACTGTGTTAATCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAGGTGTATTGTTTTGAAGGCTTCTTGGGTAATGTTAGTGTAGACCCTCCCCTGCCCCACCCGCTTTGGCCTGTAACAATCTTACCCCTCTTTCACCGTCCAGCCAGACCGCCACCTCTGTGAAGTCTTCCCTGACTGCTACAAACCACAGTAGGCTTCTCCTTCCCTGTTAGATGCAAAGTCAGTGCCATCTGTCTTGCTACTCCTGGGTCTGTACCTAGTTTCTTGTGGGTTATCTTCGCTTCCTCAGCCGCTCTAGAATTTCCTTTATTCAACTTTCCTATTCCTTAGACCTTTGTTACTCAAAGTGTTGTCTGTGGACTAGCAGCATTGCATCCCCTGGGAGTGTGTTAGAAATGCAGAATCCCAGGCCTCACCCCAGACCAGCCGAATCAGAATCAGCGTGGTAACAAGATCCTCAGCAGATGCGTAGACATGTGAAAATTTGGGGTGCGCTAGTACAGAGATGGCCACCAGATACTTGGGAAAGTCTGGTCAATTACTTTTCCGTTTCACTTGTCATCATCTAACCCATTTTGTGGGTATTCGTTTCCTGTCTGCCGCTACCCCCATGTTCTACAAGCGCAGGCTTTGATCTATTTTCCTCACTGCTATGTAGTCAGTAGGTGCTCAGTGAAAATTAGTTGAATGAATAAATACATTTTTAAAACTCTCAGGCTGGGCATGGTGGCTCCAGCCTATAATGCCAGCACTTTGGGAGGCCGAGGCAGGATCACCCGAGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCATGCGTGGTGGCACACATCTGTAATCCCAACTACTCGGGAGGCTGGGGCATGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAATCGAGATTGCACCACTGCACTCCAGCCTGGGAGACAGAGCAAGACGCTGTCTCAAGAAAAAGTAATAACAATAAACCCTCCATGTGTCCTCCAGGATCATTTCTCTGCTGAGCAAGTTCCGACTGGGATTCCATGAAGTCCACATCCTCCCTGACATCAACCAGAACCCTCGGGCTGAGCAGTAAGTTCTGTTTTGGGGCTTCCAGGCAGAAGGGCCAACTGTGTGCCTGGAGACCCCTCTGCCGGCTGCCCCCTTTTTCCTTGGTAGACTAGGAGCAAGGGTCTCTCCTCCAAGCCCTTCCTAGATGTGTCAGAGGGCACAACTTCTGCAGTGGCTGTGGCCGGGGCCTGTCCCCTCCCTGGGGCTGAGGGGACCACAGGGCAAGGCGGCTGCAGCCCCTGACATTGTGTTAACACATTGGTGCTGGGAGAGGGGAAAAGGTGAGTGACCTGGGCAACAACTTCCTTCCTCCTTCCACGCAAGGGCAAGAGCACAGATTTTAAGCAAACCCCTGTGTGAATTTGTAGCAGTGACCAATGGCAGGTTCAGCAGGGACTGTTTGCTTTCCAAATGGTATAACTCCGTCTTCTTCAAATAAGACATTTACAAACAGGATTTGTATTTTGTCAATCAGTGTGCGTGAGGTTTTCCAGGACTGTCTCCTCACTAAGGTATGTTTCCTCCTGACCTCCTAGCCCTAACTTTTCTCTTACGTCTCCCAGCCGTAAGGATGTCCCCCATCTGGACAGGGAAGGAAATCAAGACAAGCAGAAAGGAGCTGTGTAATAGTGATGCATACATTGGCTCCAACCATTTGTTAGGAGCTGTGCTTGGTGCTGCAGAGGCAGAGATGAGGAATCTGCAGCCCCATCCTCCAAGCATGGCTGCAGGCTGGTGAAAGCCAAGGGCAGTTGCAATGCTGCAGAGACAGATCAGGGTGCCAAGGAGAGTAGGATTGTCTCTGTTGGTGGAAAAGCAAAGCCTTGCGAAAGGCTGGCCTTGATGATCAAAAAGAGATCAGGGAGATCTTCCAGGAAGAAGAGACAGCAGGAGCAACATACAGACCCCATCTAGCATCTGATTTTTATTTATTTATTTATTTATTTATTTATGAGATAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCACACCACTGTGCCCGGCTAAATTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCCAGCCTAGCATCTTATTTTAAAAATCCCCTCCATTGACCTTTCATCTGCCTCCAGCAACTGGACCATTTCTCTCCTCCTTGGCACAGCCAGACTTCAAGATGTTTGCACTCTTTGTCGACCCCTCCTCCCTTCCCCTAATCCTCCCGCTCCCAACCCACTGCCCCCGCTGTCTGAGACCACTCTTGCCAGCATCATCAGTGACCTCCACGTTGCCACACCCACAGAGTCCTCTCTCTCTCTACCTTTCAGCTGCACTTGACAGTGATCCTTCTTGAGACCGTTCCTTCTTTTGGCTTCCAAGACACCCCTTCCACTGGTTTCCTCCTGCATCAGGGGCCCTTCCTCCAGTTCGTCTGCTGGTTCTTCATCCTTGACCTCACTCGCCCTTGCTGGCATCCTTGGGGTTTGGCCCTGACCCTTTTCCCTTCTCTCCATTTACTCTGTCCCAGGTGAGCTCATCCATCCTTGTGGCTTCAGATAGCATCATCTGAATGCCAATCAGCCCTACATCTCTCTCTCTCTTTTTTTTTTTTGAGACAGTCTCACTCCATCACCCAGGTTGGAGTACAGTGGTACCATCTCAGCTCACTGCAACTTCCACATCCCAGGTTCAAGTGATTCTCCTGCCTCAGTCCTCTGAGTAGCTGGGATTACAGGTGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGCATTTCGTCAGGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC
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CTCACCCCCACTAAGAACTTTCTCCTGGGAAAGCCCCTTTTCTGCAATGCTAAGGAAAGTGTTGCTTGGGAAAAGCAGCATCTGCCTTCTCTGTGATCTCCAAAAAGTAAATAAGATACGAGATTGCTCTGCAGTCTCTGCTCCCTGTCCTGGCTCTGAATGGAAGCTGGGTTCAGTAGGTTTGGTATAGCTCAAGGCTATGGAAGCCTGGGCTAACAGCATGTCCTTGGTGGGAAGGTTAGGTAACCCTTCCTCTGCCTCCCTCTGTCCCTTGGTGGGCCGCATCCTCTGCTCTCTACATAATCCTGGGGCAAGTCTATGCTGCCCTTGCCTAGGCACTGCCCAGGCCTGCCAGCCTCCGCTGCTACTGCACACCAAGACAAATCTGCCCACGGCTCTGCTTTCAAAATTTCACTCCCCAAGATCAGGGACCAGCAACGGCTTGCCTGCTGGGTCCCAGCCTGGTCCTCCAGACTTGTTTCCCATTTCTTCCTCTCTCCCAGCACACTCCATGCATCCCAGCCAGCTCCTCACTGCCCTGTTCCACCCCCCTGCACCCCGATGCCTTCCCTCCTTTTGACTGTTCCCCACCAACCAGTCCAGTGGTCCCTAACCAGGCTGGCACATCAGAATCACCTGGGGCATTACCAAAACCATGTCCTTCCCAGGGGTTCTGACTCAATGATGGGCAAGGGGTTGGGGGGAGGGCCCAGGCAGGTGTATTTTTTTGTTAGTTTGATTTGGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGTCTGGAGTGCAGTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCTACCACGGCCGGCTAATTTTTTGTATTTTTAGTGGAGACGGGGTTTCACTGTGTTAATCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAGGTGTATTGTTTTGAAGGCTTCTTGGGTAATGTTAGTGTAGACCCTCCCCTGCCCCACCCGCTTTGGCCTGTAACAATCTTACCCCTCTTTCACCGTCCAGCCAGACCGCCACCTCTGTGAAGTCTTCCCTGACTGCTACAAACCACAGTAGGCTTCTCCTTCCCTGTTAGATGCAAAGTCAGTGCCATCTGTCTTGCTACTCCTGGGTCTGTACCTAGTTTCTTGTGGGTTATCTTCGCTTCCTCAGCCGCTCTAGAATTTCCTTTATTCAACTTTCCTATTCCTTAGACCTTTGTTACTCAAAGTGTTGTCTGTGGACTAGCAGCATTGCATCCCCTGGGAGTGTGTTAGAAATGCAGAATCCCAGGCCTCACCCCAGACCAGCCGAATCAGAATCAGCGTGGTAACAAGATCCTCAGCAGATGCGTAGACATGTGAAAATTTGGGGTGCGCTAGTACAGAGATGGCCACCAGATACTTGGGAAAGTCTGGTCAATTACTTTTCCGTTTCACTTGTCATCATCTAACCCATTTTGTGGGTATTCGTTTCCTGTCTGCCGCTACCCCCATGTTCTACAAGCGCAGGCTTTGATCTATTTTCCTCACTGCTATGTAGTCAGTAGGTGCTCAGTGAAAATTAGTTGAATGAATAAATACATTTTTAAAACTCTCAGGCTGGGCATGGTGGCTCCAGCCTATAATGCCAGCACTTTGGGAGGCCGAGGCAGGATCACCCGAGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCATGCGTGGTGGCACACATCTGTAATCCCAACTACTCGGGAGGCTGGGGCATGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAATCGAGATTGCACCACTGCACTCCAGCCTGGGAGACAGAGCAAGACGCTGTCTCAAGAAAAAGTAATAACAATAAACCCTCCATGTGTCCTCCAGGATCATTTCTCTGCTGAGCAAGTTCCGACCGGGATTCCATGAAGTCCACATCCTCCCTGACATCAACCAGAACCCTCGGGCTGAGCAGTAAGTTCTGTTTTGGGGCTTCCAGGCAGAAGGGCCAACTGTGTGCCTGGAGACCCCTCTGCCGGCTGCCCCCTTTTTCCTTGGTAGACTAGGAGCAAGGGTCTCTCCTCCAAGCCCTTCCTAGATGTGTCAGAGGGCACAACTTCTGCAGTGGCTGTGGCCGGGGCCTGTCCCCTCCCTGGGGCTGAGGGGACCACAGGGCAAGGCGGCTGCAGCCCCTGACATTGTGTTAACACATTGGTGCTGGGAGAGGGGAAAAGGTGAGTGACCTGGGCAACAACTTCCTTCCTCCTTCCACGCAAGGGCAAGAGCACAGATTTTAAGCAAACCCCTGTGTGAATTTGTAGCAGTGACCAATGGCAGGTTCAGCAGGGACTGTTTGCTTTCCAAATGGTATAACTCCGTCTTCTTCAAATAAGACATTTACAAACAGGATTTGTATTTTGTCAATCAGTGTGCGTGAGGTTTTCCAGGACTGTCTCCTCACTAAGGTATGTTTCCTCCTGACCTCCTAGCCCTAACTTTTCTCTTACGTCTCCCAGCCGTAAGGATGTCCCCCATCTGGACAGGGAAGGAAATCAAGACAAGCAGAAAGGAGCTGTGTAATAGTGATGCATACATTGGCTCCAACCATTTGTTAGGAGCTGTGCTTGGTGCTGCAGAGGCAGAGATGAGGAATCTGCAGCCCCATCCTCCAAGCATGGCTGCAGGCTGGTGAAAGCCAAGGGCAGTTGCAATGCTGCAGAGACAGATCAGGGTGCCAAGGAGAGTAGGATTGTCTCTGTTGGTGGAAAAGCAAAGCCTTGCGAAAGGCTGGCCTTGATGATCAAAAAGAGATCAGGGAGATCTTCCAGGAAGAAGAGACAGCAGGAGCAACATACAGACCCCATCTAGCATCTGATTTTTATTTATTTATTTATTTATTTATTTATGAGATAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCACACCACTGTGCCCGGCTAAATTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCCAGCCTAGCATCTTATTTTAAAAATCCCCTCCATTGACCTTTCATCTGCCTCCAGCAACTGGACCATTTCTCTCCTCCTTGGCACAGCCAGACTTCAAGATGTTTGCACTCTTTGTCGACCCCTCCTCCCTTCCCCTAATCCTCCCGCTCCCAACCCACTGCCCCCGCTGTCTGAGACCACTCTTGCCAGCATCATCAGTGACCTCCACGTTGCCACACCCACAGAGTCCTCTCTCTCTCTACCTTTCAGCTGCACTTGACAGTGATCCTTCTTGAGACCGTTCCTTCTTTTGGCTTCCAAGACACCCCTTCCACTGGTTTCCTCCTGCATCAGGGGCCCTTCCTCCAGTTCGTCTGCTGGTTCTTCATCCTTGACCTCACTCGCCCTTGCTGGCATCCTTGGGGTTTGGCCCTGACCCTTTTCCCTTCTCTCCATTTACTCTGTCCCAGGTGAGCTCATCCATCCTTGTGGCTTCAGATAGCATCATCTGAATGCCAATCAGCCCTACATCTCTCTCTCTCTTTTTTTTTTTTGAGACAGTCTCACTCCATCACCCAGGTTGGAGTACAGTGGTACCATCTCAGCTCACTGCAACTTCCACATCCCAGGTTCAAGTGATTCTCCTGCCTCAGTCCTCTGAGTAGCTGGGATTACAGGTGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGCATTTCGTCAGGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC
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Task1_train_22742
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A variant has been detected on Chromosome 16 in SLC12A3 (solute carrier family 12 member 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Familial hypokalemia-hypomagnesemia
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GTGGAAAAGCAAAGCCTTGCGAAAGGCTGGCCTTGATGATCAAAAAGAGATCAGGGAGATCTTCCAGGAAGAAGAGACAGCAGGAGCAACATACAGACCCCATCTAGCATCTGATTTTTATTTATTTATTTATTTATTTATTTATGAGATAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCACACCACTGTGCCCGGCTAAATTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCCAGCCTAGCATCTTATTTTAAAAATCCCCTCCATTGACCTTTCATCTGCCTCCAGCAACTGGACCATTTCTCTCCTCCTTGGCACAGCCAGACTTCAAGATGTTTGCACTCTTTGTCGACCCCTCCTCCCTTCCCCTAATCCTCCCGCTCCCAACCCACTGCCCCCGCTGTCTGAGACCACTCTTGCCAGCATCATCAGTGACCTCCACGTTGCCACACCCACAGAGTCCTCTCTCTCTCTACCTTTCAGCTGCACTTGACAGTGATCCTTCTTGAGACCGTTCCTTCTTTTGGCTTCCAAGACACCCCTTCCACTGGTTTCCTCCTGCATCAGGGGCCCTTCCTCCAGTTCGTCTGCTGGTTCTTCATCCTTGACCTCACTCGCCCTTGCTGGCATCCTTGGGGTTTGGCCCTGACCCTTTTCCCTTCTCTCCATTTACTCTGTCCCAGGTGAGCTCATCCATCCTTGTGGCTTCAGATAGCATCATCTGAATGCCAATCAGCCCTACATCTCTCTCTCTCTTTTTTTTTTTTGAGACAGTCTCACTCCATCACCCAGGTTGGAGTACAGTGGTACCATCTCAGCTCACTGCAACTTCCACATCCCAGGTTCAAGTGATTCTCCTGCCTCAGTCCTCTGAGTAGCTGGGATTACAGGTGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGCATTTCGTCAGGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCCAGCCCTAAATCTCTGTCTTTAATGATGTGAGTCACATCGCACAGAAGACCCCCAGCAGCTTCTGGTCTCACTTGGGGCAGATAAGGAAGCCCTGCCCGACTGGGCCCTCTCTGCCTGCCTGTCCTCACCTCCTCCCACCCTTCCCTGCACTCACCTTGCTCCAGCACACAGGATCCTTCACTGCTCCTCATATGAGCCAAACACGCTCTGCCTCAGGGCTTCTGCACGTTCAGTTCTGTTCGCTTCTGCACCCCCTGTCCCGTGCATGGCTGGTTTTGCAAGGACAGACTTCCTTCAGGTCCCAGAAGGGCCTTCCCCACCCATTATTCTCTGTCCCAGTACTTGGTTGTCCCTTCATAAGCTTCCACTTCATATTTATTTGCTACTTGCTTATCACCGTGGCTCTGTGAGGACTGGGGACACAATCTGATTTGTTCACTGTTGTGTAGCACAGAGCCTGGTACAGAATCATGCTCTGTAAATACCTGCTGGATGGTCGGGTGGGTCACAGGTCAGTGGTTGTGGGCAACTTGTGAAAGTTCAGTTGGATGCCAGACCCAGCCAGCAGAGCTGAATTCAACATGGAAGCCACTTTGTAAATGGCAGTGTCCGATGGGTTTCAGCCTGAAAATGGGAGCTGTGGCAACACTGCCAGCTCCCCGCAGGGACCTGGCACCCCTAGAAATGGGGTTATCGTCTCAGCCGGCCTCAACCCACTTTCTCGTCCCCAGCACCAAGAGGTTTGAGGACATGATTGCACCCTTCCGTCTGAATGATGGCTTCAAGGATGAGGCCACTGTCAACGAGATGCGGCGGGACTGCCCCTGGAAGATCTCAGATGAGGAGATTACGAAGAACAGAGTCAAGGTGCAGAGAGGGGTGGGGGTGGGAAACGCGACACATCACTGGGTCAGGGACGGGTGTCCTGCATGTCTTGAGCTCCCCCAGCCCCTCCCCTCGATCCTCCACCCTGCCTTCCACTCCGGCCCCTGAGGTATCCTCAAGCCACAGTCGTTCAGGCTGATGGGTAACCCGGCTGTGGAACTCAGTGCTATCCTTGACCTGGGAGCCTGGTCCTCCTGCCCATCTTGAGTGAGCTCTGGCAGTGGGCTTGACTGCCCGGAGTCCTCCTCCTCCTCCTCCTCCTCCACACTTCCTCTATGCCGGGTGGAAGAGATTTCTGAGACTCATGGTGACAGCCAAGGTATAATTAGTCCTGTTAGGCCGGGCATGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAGACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTGTCCTGTGGGCCAACACGGCTGCCTGACCTTCCCTGCTTAGCCTCTAGACCCTACCCCTGCCACAGCTCAGAGCTATGGTGCCCCTTCCTGGACAGCACCTTCAGGACTCTAAGGGCTAAGAAAGGGTGTGTGCCTGTAGCCATGCTGTGAGTGCGTCAAGGTGGGGCAGGCTCTAGGAGTGCGAGCGAGAGCGATGGGGGCAAGGGCCGGGTCCTACTTCTACCCCCAGTGTCAGTCATTCTCCACCACGAGGGAGCTTACCCCCTGGGGGACATTTGGCAACCTCTGGAGACATTTTTGTTTGTCACAACTCGGGGGTGGGGCTGCTACTGTCAGGCAGTGAGGAGAGACCTGCGATGCTGCCAAACATCCTACGATGTGCAGGACACTTCCCACAACAAGGACTTGTATGCCCCAAATAACTACAGTGCAAGGTCCAGAATCCCTTACCCACGTTAACTCCCTTCCCCTCGGTCTCTTGGTCTCCAGGATAGGGCATCCGTCCACGATCAGTTCCTGAGTGTCAATCATTTCTGAATAATTTGAGCTAGGCCTTGGGTTGGAAGGAGTCTCCCACCCCCAACCCAGTCCCACGCAAGTTTGGGGACTTCCCTAATCTGTCAGCCCCGAGACCCTGCCCCAAAGGGCCCATGCAGCCATCTGGCTCTTTGGAAAATGCTGAATAAAACATTGTGTCCGAAGAAGACCTTCCAATACTCTGTTACAGAAGAAGTGGGGCAACCTCTCTTTTATAAAGTATTTTTAGTGTACCAGGCCCTCTGCCGGGTGCTTTTGCATAGGTTGTCTCATTTGATCCTCCCCAAATTCCCCTGGAGAAGGTATCATCATACCCATTTTACAGATGAAGATGGTGAAGGTCAGGGAGACAACCTGACTTGCCCAAGTTCTCTCTGCTATGAAATGTGAGAGCTGAGATCTGAACCTAGTAAGGTGTTCTCTCTTCCCTCTACCCTGCTGGTTATGGTCATAAAGTCAGGCAAGGAAAAGCCACAGAATGCTTCTTGGAGGAGGTGAGCTTGGTGCTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAAATCATGAATCCAGTTGAAAATGTTAATGAGGCCATAGACGTGGTGAAGGATTGAGTGACCTCGATGATATGGGAAGTGACCACTCGGCTTTCTCCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAATGAGATTGTGCTGGATTACTCCCGAGACGCTGCTCTCATCGTCATGTAAGTAGTGCCCGGCTGGTGGGAGGACCAGTCTGTC
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GTGGAAAAGCAAAGCCTTGCGAAAGGCTGGCCTTGATGATCAAAAAGAGATCAGGGAGATCTTCCAGGAAGAAGAGACAGCAGGAGCAACATACAGACCCCATCTAGCATCTGATTTTTATTTATTTATTTATTTATTTATTTATGAGATAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCACACCACTGTGCCCGGCTAAATTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCCAGCCTAGCATCTTATTTTAAAAATCCCCTCCATTGACCTTTCATCTGCCTCCAGCAACTGGACCATTTCTCTCCTCCTTGGCACAGCCAGACTTCAAGATGTTTGCACTCTTTGTCGACCCCTCCTCCCTTCCCCTAATCCTCCCGCTCCCAACCCACTGCCCCCGCTGTCTGAGACCACTCTTGCCAGCATCATCAGTGACCTCCACGTTGCCACACCCACAGAGTCCTCTCTCTCTCTACCTTTCAGCTGCACTTGACAGTGATCCTTCTTGAGACCGTTCCTTCTTTTGGCTTCCAAGACACCCCTTCCACTGGTTTCCTCCTGCATCAGGGGCCCTTCCTCCAGTTCGTCTGCTGGTTCTTCATCCTTGACCTCACTCGCCCTTGCTGGCATCCTTGGGGTTTGGCCCTGACCCTTTTCCCTTCTCTCCATTTACTCTGTCCCAGGTGAGCTCATCCATCCTTGTGGCTTCAGATAGCATCATCTGAATGCCAATCAGCCCTACATCTCTCTCTCTCTTTTTTTTTTTTGAGACAGTCTCACTCCATCACCCAGGTTGGAGTACAGTGGTACCATCTCAGCTCACTGCAACTTCCACATCCCAGGTTCAAGTGATTCTCCTGCCTCAGTCCTCTGAGTAGCTGGGATTACAGGTGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGCATTTCGTCAGGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCCAGCCCTAAATCTCTGTCTTTAATGATGTGAGTCACATCGCACAGAAGACCCCCAGCAGCTTCTGGTCTCACTTGGGGCAGATAAGGAAGCCCTGCCCGACTGGGCCCTCTCTGCCTGCCTGTCCTCACCTCCTCCCACCCTTCCCTGCACTCACCTTGCTCCAGCACACAGGATCCTTCACTGCTCCTCATATGAGCCAAACACGCTCTGCCTCAGGGCTTCTGCACGTTCAGTTCTGTTCGCTTCTGCACCCCCTGTCCCGTGCATGGCTGGTTTTGCAAGGACAGACTTCCTTCAGGTCCCAGAAGGGCCTTCCCCACCCATTATTCTCTGTCCCAGTACTTGGTTGTCCCTTCATAAGCTTCCACTTCATATTTATTTGCTACTTGCTTATCACCGTGGCTCTGTGAGGACTGGGGACACAATCTGATTTGTTCACTGTTGTGTAGCACAGAGCCTGGTACAGAATCATGCTCTGTAAATACCTGCTGGATGGTCGGGTGGGTCACAGGTCAGTGGTTGTGGGCAACTTGTGAAAGTTCAGTTGGATGCCAGACCCAGCCAGCAGAGCTGAATTCAACATGGAAGCCACTTTGTAAATGGCAGTGTCCGATGGGTTTCAGCCTGAAAATGGGAGCTGTGGCAACACTGCCAGCTCCCCGCAGGGACCTGGCACCCCTAGAAATGGGGTTATCGTCTCAGCCGGCCTCAACCCACTTTCTCGTCCCCAGCACCAAGAGGTTTGAGGACATGATTGCACCCTTCCGTCTGAATGATGGCTTCAAGGATGAGGCCACTGTCAACGAGATGTGGCGGGACTGCCCCTGGAAGATCTCAGATGAGGAGATTACGAAGAACAGAGTCAAGGTGCAGAGAGGGGTGGGGGTGGGAAACGCGACACATCACTGGGTCAGGGACGGGTGTCCTGCATGTCTTGAGCTCCCCCAGCCCCTCCCCTCGATCCTCCACCCTGCCTTCCACTCCGGCCCCTGAGGTATCCTCAAGCCACAGTCGTTCAGGCTGATGGGTAACCCGGCTGTGGAACTCAGTGCTATCCTTGACCTGGGAGCCTGGTCCTCCTGCCCATCTTGAGTGAGCTCTGGCAGTGGGCTTGACTGCCCGGAGTCCTCCTCCTCCTCCTCCTCCTCCACACTTCCTCTATGCCGGGTGGAAGAGATTTCTGAGACTCATGGTGACAGCCAAGGTATAATTAGTCCTGTTAGGCCGGGCATGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAGACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTGTCCTGTGGGCCAACACGGCTGCCTGACCTTCCCTGCTTAGCCTCTAGACCCTACCCCTGCCACAGCTCAGAGCTATGGTGCCCCTTCCTGGACAGCACCTTCAGGACTCTAAGGGCTAAGAAAGGGTGTGTGCCTGTAGCCATGCTGTGAGTGCGTCAAGGTGGGGCAGGCTCTAGGAGTGCGAGCGAGAGCGATGGGGGCAAGGGCCGGGTCCTACTTCTACCCCCAGTGTCAGTCATTCTCCACCACGAGGGAGCTTACCCCCTGGGGGACATTTGGCAACCTCTGGAGACATTTTTGTTTGTCACAACTCGGGGGTGGGGCTGCTACTGTCAGGCAGTGAGGAGAGACCTGCGATGCTGCCAAACATCCTACGATGTGCAGGACACTTCCCACAACAAGGACTTGTATGCCCCAAATAACTACAGTGCAAGGTCCAGAATCCCTTACCCACGTTAACTCCCTTCCCCTCGGTCTCTTGGTCTCCAGGATAGGGCATCCGTCCACGATCAGTTCCTGAGTGTCAATCATTTCTGAATAATTTGAGCTAGGCCTTGGGTTGGAAGGAGTCTCCCACCCCCAACCCAGTCCCACGCAAGTTTGGGGACTTCCCTAATCTGTCAGCCCCGAGACCCTGCCCCAAAGGGCCCATGCAGCCATCTGGCTCTTTGGAAAATGCTGAATAAAACATTGTGTCCGAAGAAGACCTTCCAATACTCTGTTACAGAAGAAGTGGGGCAACCTCTCTTTTATAAAGTATTTTTAGTGTACCAGGCCCTCTGCCGGGTGCTTTTGCATAGGTTGTCTCATTTGATCCTCCCCAAATTCCCCTGGAGAAGGTATCATCATACCCATTTTACAGATGAAGATGGTGAAGGTCAGGGAGACAACCTGACTTGCCCAAGTTCTCTCTGCTATGAAATGTGAGAGCTGAGATCTGAACCTAGTAAGGTGTTCTCTCTTCCCTCTACCCTGCTGGTTATGGTCATAAAGTCAGGCAAGGAAAAGCCACAGAATGCTTCTTGGAGGAGGTGAGCTTGGTGCTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAAATCATGAATCCAGTTGAAAATGTTAATGAGGCCATAGACGTGGTGAAGGATTGAGTGACCTCGATGATATGGGAAGTGACCACTCGGCTTTCTCCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAATGAGATTGTGCTGGATTACTCCCGAGACGCTGCTCTCATCGTCATGTAAGTAGTGCCCGGCTGGTGGGAGGACCAGTCTGTC
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Task1_train_22743
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Located on Chromosome 16, this mutation impacts SLC12A3 (solute carrier family 12 member 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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ACATGATTGCACCCTTCCGTCTGAATGATGGCTTCAAGGATGAGGCCACTGTCAACGAGATGCGGCGGGACTGCCCCTGGAAGATCTCAGATGAGGAGATTACGAAGAACAGAGTCAAGGTGCAGAGAGGGGTGGGGGTGGGAAACGCGACACATCACTGGGTCAGGGACGGGTGTCCTGCATGTCTTGAGCTCCCCCAGCCCCTCCCCTCGATCCTCCACCCTGCCTTCCACTCCGGCCCCTGAGGTATCCTCAAGCCACAGTCGTTCAGGCTGATGGGTAACCCGGCTGTGGAACTCAGTGCTATCCTTGACCTGGGAGCCTGGTCCTCCTGCCCATCTTGAGTGAGCTCTGGCAGTGGGCTTGACTGCCCGGAGTCCTCCTCCTCCTCCTCCTCCTCCACACTTCCTCTATGCCGGGTGGAAGAGATTTCTGAGACTCATGGTGACAGCCAAGGTATAATTAGTCCTGTTAGGCCGGGCATGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAGACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTGTCCTGTGGGCCAACACGGCTGCCTGACCTTCCCTGCTTAGCCTCTAGACCCTACCCCTGCCACAGCTCAGAGCTATGGTGCCCCTTCCTGGACAGCACCTTCAGGACTCTAAGGGCTAAGAAAGGGTGTGTGCCTGTAGCCATGCTGTGAGTGCGTCAAGGTGGGGCAGGCTCTAGGAGTGCGAGCGAGAGCGATGGGGGCAAGGGCCGGGTCCTACTTCTACCCCCAGTGTCAGTCATTCTCCACCACGAGGGAGCTTACCCCCTGGGGGACATTTGGCAACCTCTGGAGACATTTTTGTTTGTCACAACTCGGGGGTGGGGCTGCTACTGTCAGGCAGTGAGGAGAGACCTGCGATGCTGCCAAACATCCTACGATGTGCAGGACACTTCCCACAACAAGGACTTGTATGCCCCAAATAACTACAGTGCAAGGTCCAGAATCCCTTACCCACGTTAACTCCCTTCCCCTCGGTCTCTTGGTCTCCAGGATAGGGCATCCGTCCACGATCAGTTCCTGAGTGTCAATCATTTCTGAATAATTTGAGCTAGGCCTTGGGTTGGAAGGAGTCTCCCACCCCCAACCCAGTCCCACGCAAGTTTGGGGACTTCCCTAATCTGTCAGCCCCGAGACCCTGCCCCAAAGGGCCCATGCAGCCATCTGGCTCTTTGGAAAATGCTGAATAAAACATTGTGTCCGAAGAAGACCTTCCAATACTCTGTTACAGAAGAAGTGGGGCAACCTCTCTTTTATAAAGTATTTTTAGTGTACCAGGCCCTCTGCCGGGTGCTTTTGCATAGGTTGTCTCATTTGATCCTCCCCAAATTCCCCTGGAGAAGGTATCATCATACCCATTTTACAGATGAAGATGGTGAAGGTCAGGGAGACAACCTGACTTGCCCAAGTTCTCTCTGCTATGAAATGTGAGAGCTGAGATCTGAACCTAGTAAGGTGTTCTCTCTTCCCTCTACCCTGCTGGTTATGGTCATAAAGTCAGGCAAGGAAAAGCCACAGAATGCTTCTTGGAGGAGGTGAGCTTGGTGCTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAAATCATGAATCCAGTTGAAAATGTTAATGAGGCCATAGACGTGGTGAAGGATTGAGTGACCTCGATGATATGGGAAGTGACCACTCGGCTTTCTCCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAATGAGATTGTGCTGGATTACTCCCGAGACGCTGCTCTCATCGTCATGTAAGTAGTGCCCGGCTGGTGGGAGGACCAGTCTGTCCAGAGTCAGGTGTCTCAGCTCTGGGAAGGGGCTCAGCAGGGGCACCACGGAGGGCCCAAGCCTTCCCCTAGGAAGCAGAAGGGCCAAAGTTCCCATAAACATAGCCCTGGCGATTCTTAGCATGTGGCTGGGCCTGAGCCCGCCCCACACCTGAGCTCCAGCTGGCAGGGGTCGAGGGCCTCACGTGTCCCAGGCATCAGTGACCTCCCCTTGCCATTGCTTTTTCCTGTTGGCTGCCTTTTCCTACCAAATTCCACTTGGCAAAGAGGGAACCCAGCTCTTTCAAGAGGGACATCAACTCCTGGTTGTTCAGGAATTACTTGGCCCTCCTTGGCTATCGGCCATTCCCAGCTGATGTTGGTTCCAAGCCTGAGCAACAGAAACAGAGGCCTGTCCTAGCCCTGGCTGTTCCTACTGGACCCACGTCCAGTTCTGAGCCACCCCTGGGTGTATTAGCCAGGGCTGAGCAAGCAGAATGTGGGATGGAAGGTGAGAGCTATGCAGCAAAGGTCTCAGGGTGGCTCTGCTCTCTCTGAGGCCTGTAAGAAGAACATGATTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGGTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGGTTGCCCCATTTCACTCCAGCCTGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAGGAAGAAGAGGAAGAACATGATCAGCCAAGCCCTCAGCTCAGGGGACAAGGGGTCTTCGCCAAGGTAAGTAACTGGCCTCTCCTACATTTCCTGGGGGCCAACCACCTGGGAATCAGACAGAAGGGATCTTTCGGCTCTGGTGATGTACCCCACTCCCAGACCTGTCACCATCTGACCTGGACTGCAGATGCCAGGTTCTGCATGACAGCCGAAATGTTCGTGGAAACTGCTTGTTCAGAGCCTGAAGCCAGGACCAACTACACAATTTGCAAGGCCTAGGACAAAATGAAAATGTGGGGCACCTTGCTCAGAAACTATTAAGAAGGTCTGTGGTCTTCCCTTTCAAAGCAGTCTCCCTTACATCCTCACATAGGATGTATGGAATTTGTTTTTTAAAAAATCTCACAGTGGTGGAAAGGAGGAGGGGGTAGGGGTTCAACACAACTGATCATAGTTTGATCATTGATGTAGACAGATGATGACGTGGGCATGAAACGTCAGGGTATCATTTTTCAAACTTCACCTGTTTGAACCCTTCTATAAATCTGCAAAATGCATCCTGCCTTGGAGAGCAACCACAAGTGCCTCATCAAGCTTGCTTTCTCTGGCAAGAAGGTCCCCAAAAACCTAGCGCCACACACTGTTCTAGGAAGATGTGCTCAGATAGGAGGGATCCTTCAGCTCTGGTGATACAACCCATTCCCAGACTTGTCACCATCTGACCTAGACTGCAGATGCCAGGATCTAAGGATATTAGATTCATGAGAGGAGACCTCAGAACAAGTGGTCCATTGAGGGTGATAAAAGCAACTCAAACTATTTTCCCCCTACTTCTGTTGCTTGAGTACTGTGTACGTTGCATGCATCCCTTACTGCTGTGTCTGCAATACCCTCTTTCAGGAGAGCACCAGCAATGTTTCTTTTATGTAGTGTAAGTGCCCCTTTGAGAAGATCAAAACAGCAAATGGGTTCAGACTGAAAATGGCCAATGGCTTCTAGCAGATGAGTAGATAAAGCTTGAGGATACGCATCCTCCTAGGTCTCATCAAAGGCTAGAAGCTGAGCAACCAGTTTGGAGACCTGACCTGGAGGTTTCTGGACCTCCAGTCTGTCTTAAGAT
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ACATGATTGCACCCTTCCGTCTGAATGATGGCTTCAAGGATGAGGCCACTGTCAACGAGATGCGGCGGGACTGCCCCTGGAAGATCTCAGATGAGGAGATTACGAAGAACAGAGTCAAGGTGCAGAGAGGGGTGGGGGTGGGAAACGCGACACATCACTGGGTCAGGGACGGGTGTCCTGCATGTCTTGAGCTCCCCCAGCCCCTCCCCTCGATCCTCCACCCTGCCTTCCACTCCGGCCCCTGAGGTATCCTCAAGCCACAGTCGTTCAGGCTGATGGGTAACCCGGCTGTGGAACTCAGTGCTATCCTTGACCTGGGAGCCTGGTCCTCCTGCCCATCTTGAGTGAGCTCTGGCAGTGGGCTTGACTGCCCGGAGTCCTCCTCCTCCTCCTCCTCCTCCACACTTCCTCTATGCCGGGTGGAAGAGATTTCTGAGACTCATGGTGACAGCCAAGGTATAATTAGTCCTGTTAGGCCGGGCATGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAGACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAATTGTCCTGTGGGCCAACACGGCTGCCTGACCTTCCCTGCTTAGCCTCTAGACCCTACCCCTGCCACAGCTCAGAGCTATGGTGCCCCTTCCTGGACAGCACCTTCAGGACTCTAAGGGCTAAGAAAGGGTGTGTGCCTGTAGCCATGCTGTGAGTGCGTCAAGGTGGGGCAGGCTCTAGGAGTGCGAGCGAGAGCGATGGGGGCAAGGGCCGGGTCCTACTTCTACCCCCAGTGTCAGTCATTCTCCACCACGAGGGAGCTTACCCCCTGGGGGACATTTGGCAACCTCTGGAGACATTTTTGTTTGTCACAACTCGGGGGTGGGGCTGCTACTGTCAGGCAGTGAGGAGAGACCTGCGATGCTGCCAAACATCCTACGATGTGCAGGACACTTCCCACAACAAGGACTTGTATGCCCCAAATAACTACAGTGCAAGGTCCAGAATCCCTTACCCACGTTAACTCCCTTCCCCTCGGTCTCTTGGTCTCCAGGATAGGGCATCCGTCCACGATCAGTTCCTGAGTGTCAATCATTTCTGAATAATTTGAGCTAGGCCTTGGGTTGGAAGGAGTCTCCCACCCCCAACCCAGTCCCACGCAAGTTTGGGGACTTCCCTAATCTGTCAGCCCCGAGACCCTGCCCCAAAGGGCCCATGCAGCCATCTGGCTCTTTGGAAAATGCTGAATAAAACATTGTGTCCGAAGAAGACCTTCCAATACTCTGTTACAGAAGAAGTGGGGCAACCTCTCTTTTATAAAGTATTTTTAGTGTACCAGGCCCTCTGCCGGGTGCTTTTGCATAGGTTGTCTCATTTGATCCTCCCCAAATTCCCCTGGAGAAGGTATCATCATACCCATTTTACAGATGAAGATGGTGAAGGTCAGGGAGACAACCTGACTTGCCCAAGTTCTCTCTGCTATGAAATGTGAGAGCTGAGATCTGAACCTAGTAAGGTGTTCTCTCTTCCCTCTACCCTGCTGGTTATGGTCATAAAGTCAGGCAAGGAAAAGCCACAGAATGCTTCTTGGAGGAGGTGAGCTTGGTGCTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAAATCATGAATCCAGTTGAAAATGTTAATGAGGCCATAGACGTGGTGAAGGATTGAGTGACCTCGATGATATGGGAAGTGACCACTCGGCTTTCTCCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAATGAGATTGTGCTGGATTACTTCCGAGACGCTGCTCTCATCGTCATGTAAGTAGTGCCCGGCTGGTGGGAGGACCAGTCTGTCCAGAGTCAGGTGTCTCAGCTCTGGGAAGGGGCTCAGCAGGGGCACCACGGAGGGCCCAAGCCTTCCCCTAGGAAGCAGAAGGGCCAAAGTTCCCATAAACATAGCCCTGGCGATTCTTAGCATGTGGCTGGGCCTGAGCCCGCCCCACACCTGAGCTCCAGCTGGCAGGGGTCGAGGGCCTCACGTGTCCCAGGCATCAGTGACCTCCCCTTGCCATTGCTTTTTCCTGTTGGCTGCCTTTTCCTACCAAATTCCACTTGGCAAAGAGGGAACCCAGCTCTTTCAAGAGGGACATCAACTCCTGGTTGTTCAGGAATTACTTGGCCCTCCTTGGCTATCGGCCATTCCCAGCTGATGTTGGTTCCAAGCCTGAGCAACAGAAACAGAGGCCTGTCCTAGCCCTGGCTGTTCCTACTGGACCCACGTCCAGTTCTGAGCCACCCCTGGGTGTATTAGCCAGGGCTGAGCAAGCAGAATGTGGGATGGAAGGTGAGAGCTATGCAGCAAAGGTCTCAGGGTGGCTCTGCTCTCTCTGAGGCCTGTAAGAAGAACATGATTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGGTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGGTTGCCCCATTTCACTCCAGCCTGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAGGAAGAAGAGGAAGAACATGATCAGCCAAGCCCTCAGCTCAGGGGACAAGGGGTCTTCGCCAAGGTAAGTAACTGGCCTCTCCTACATTTCCTGGGGGCCAACCACCTGGGAATCAGACAGAAGGGATCTTTCGGCTCTGGTGATGTACCCCACTCCCAGACCTGTCACCATCTGACCTGGACTGCAGATGCCAGGTTCTGCATGACAGCCGAAATGTTCGTGGAAACTGCTTGTTCAGAGCCTGAAGCCAGGACCAACTACACAATTTGCAAGGCCTAGGACAAAATGAAAATGTGGGGCACCTTGCTCAGAAACTATTAAGAAGGTCTGTGGTCTTCCCTTTCAAAGCAGTCTCCCTTACATCCTCACATAGGATGTATGGAATTTGTTTTTTAAAAAATCTCACAGTGGTGGAAAGGAGGAGGGGGTAGGGGTTCAACACAACTGATCATAGTTTGATCATTGATGTAGACAGATGATGACGTGGGCATGAAACGTCAGGGTATCATTTTTCAAACTTCACCTGTTTGAACCCTTCTATAAATCTGCAAAATGCATCCTGCCTTGGAGAGCAACCACAAGTGCCTCATCAAGCTTGCTTTCTCTGGCAAGAAGGTCCCCAAAAACCTAGCGCCACACACTGTTCTAGGAAGATGTGCTCAGATAGGAGGGATCCTTCAGCTCTGGTGATACAACCCATTCCCAGACTTGTCACCATCTGACCTAGACTGCAGATGCCAGGATCTAAGGATATTAGATTCATGAGAGGAGACCTCAGAACAAGTGGTCCATTGAGGGTGATAAAAGCAACTCAAACTATTTTCCCCCTACTTCTGTTGCTTGAGTACTGTGTACGTTGCATGCATCCCTTACTGCTGTGTCTGCAATACCCTCTTTCAGGAGAGCACCAGCAATGTTTCTTTTATGTAGTGTAAGTGCCCCTTTGAGAAGATCAAAACAGCAAATGGGTTCAGACTGAAAATGGCCAATGGCTTCTAGCAGATGAGTAGATAAAGCTTGAGGATACGCATCCTCCTAGGTCTCATCAAAGGCTAGAAGCTGAGCAACCAGTTTGGAGACCTGACCTGGAGGTTTCTGGACCTCCAGTCTGTCTTAAGAT
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Task1_train_22744
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The gene LOC126862361, SLC12A3 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:56946332-56947531| solute carrier family 12 member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; not provided
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GCCTTGGTCCAACCCACCTTCCCTAATTTTTGAGACCTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCATGCCTGGCCCGGGACATTGCTTTTTAAAGGAGGGTAGGGCTTGTCCCAGGTGAAGCTTTGTGGATGGAACTTCCAAGTGTGACATAGCTGTTTAGTATCCCAGTTACCCTTCTCAGAGGAGGTTGGAGTTGCTGTGAGCAGAGGCTGCTGCGGAGGGAAGATGTCAAGACCTCGGTTCGAATTCCAGCTTTGCCGCCGCTGGCTTAGCTGTCGCGTGCTGGTCAGTACTAAGTGGTGATGACAGCTGCTGACCTTACAGAGCACTCACTGTGTGCCAGGCATTGTGCTGTGCCTGCGTGTGCTTTGCCTGTTTTAGCATCACAAACATCCTGCGAGGGAGGTTTTTGTGTTCTTGCTTTAGGGAAGAGAAACTCTGCAAAGGTCATCTGGCTGAGGAAGTGGCAAAGCCACGACTCGGACGCCAGAGACTGGCTCTGACCTCAGCGCTCCAGCATCCTCCTCCCGCCCCAGTTCTCCCACCTGTGAAGGAGCGCGGTGCTGCGGGCCCTGCCCATTCCCCAGGGGGATGTACTTGGGGAAAACAGACACTCAAGTGAGTCCCACGGAAGGTGCTGGTGCCCCCACTTCATGCGGCACCAGCTGGACCTGTGAGACACTGCTGGAGCCCACAGACCCTCCTGGAGCCCAGAGCTGGGCAGCTGTGGCCATCCCAATGCATTTTTGGAATTCTCCAGATAGTAGAAAAGTCACTTCCTGAAATAGTTGGAAGACATGGCTGGACAGCATTCCCAGGGCATCTTTTTATTCACGCAGCATTGCACAGTTAAGACAAGGGGCCTCCCCATAGGCAGCGGTGGAGTCTTGCTCCCAGGGCCTCCTGCACAGGGCAGGAGGCAGGACAAAGACGCTGAGCTGGACAATGAATGAACAGGAACATATCACATTGCTGTGGCCACAGGCTGGCACAGGGCTGGAGAGGCAAGCCTGGCATGAAGCGGGTGGCCTGATAGGGAAGGGTCGCCCACTTAACAAATATATACTGAGCCTGACTGTATCAGACTGTGTTCTAGGCACTGGGAAAAGGGGGGTGAATAAGGCAGATCTGGCCTCCTTGTGAGCGAACATTCTAATGTGGGGAGACAAGCACATAAATCAGAAGATGCTGTTGGGACTGTGGAGGGCTCTGAAGGCAGTAAAGTGGGGTGATGTGAGGAAGAGGCGTGGGCGGCCTGCCCTGGAGGAGTGATCAGGGAGGAGGTGGGTGCACTTGCCTGACTCAAAGGAAGTGACCAGGTGCAGAGCTGGGGCTGCTCCTTTCCTGGTGGGTGGGGAGAACGTCAAGTGCAAAGGTTGGAGGCAGGAGTGAGCTTGGCATTTTTTTAGGAATGGAAAGAAAGCCACAGGGCATCGGGGGTGAGCAAGGCGAGGGTGGGAGGAGGTGAGGTCGTGGGCTTGGCAAGGACTAGATCCCATAGGGCTTGTGGGCCATGGCTTTGTTTAGAAACGCTTCACGGCAGAAGGTCCATTCTGGGTCAGGTTTGTGCGGAAAGTGGGGAGGTCATTCTTAGGGTGGGTGGAAGGAGCTCTGAGGGACGGTAAACAGACTCGCTGTTCTGAAAACAAACTGGGAGCTGGGCGTGTGGAGCGGCCCCGTGGTAATCTCTCTTCTACCACTTTTTCATGCCTTGCAGCACTTTGCCCATAGGGAGGAAGGGGAAGTGCCCCAGCTCGCTGTACATGGCCTGGCTGGAGACCCTGTCCCAGGACCTCAGACCTCCAGTCATCCTGATCCGAGGAAACCAGGAAAACGTGCTCACCTTTTACTGCCAGTAACTCCAGGCTTTGACATCCCTGTCCACAGCTCTGAGTGTGTGGGATAAGTTGGAACTTGATTGCCTCTAGTCCACAGGGATGAGACTCATGTTCTGTTGCACTTTAAGTGGCAGCATCTGATGATCTCACCGAAAAAGATGGTAGATTTCCAAATCTGGCTGGACTCCACTTCCATGGGACACATTCCCTGGGTCTTGTGTTTATAGGCTAGAGAAATAGCAGATGGAGCTGCAAGGAAAACTCTCTAAAGCATCCTATTCCTTTTAAAGGATTTCTTTTGATTTTGATGACCATTAATTAAGAGTTCAGTCTTTGATTTGTATGCAAATTGGAGTCCCAATGCTGGGCGTGAATCTTGACAGTTTCTACAGACCTTCCTGGGTGAAAGTTCCTAAATCATGCCCTGCTTCCTCCAATAGGAGAATGGGAGCCTCACCTGTAGGACCTACAGGCTCTCTAAGGAATGCAGGTCTCTCTCTGAGCCTCCACAGCCAGGCAAATACATATATATATATTTTTTTTTTAGATGAAGTTTTTTCTCTTGTTGCCCAGGCTAGGGTGTAATGGCATGATCTCAGGTCACTGCAACCTCCTCCCGGGTTCAAGCATTTCTTCTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCACCTGCCATCACACGAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTGTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGTGCTGGGGTTACAGGCCTGAGCCACTGCGCCCGGCCCAGGCAAATTTCTTGAACCACTTCTCACTCCCGTCACTTTCAATAAGGGGTCTTTGATGTCTTCACTGGTTCTTTGGACGAGGGACTTTTCGAACTTTTTTGGTTGCAACACACAGTAAGAAATATACTTCACACTGAGACTTGCAGCGCACACACACGGAAACGACCAAAACAAAAATGTCACAAAACAATACTTACCCTTCCCTGGGGGACGTCCTCCAGTATGTTCTGTTCTGTTTATTTTTCACTGTTGGTTGCAATCCAATAAAATGACTTTGGGATCCACTCATGGGTGGGGACCCACACATTTGAAAGGCATGGCCACCTTTCTGTTGTGCCTTGCATTTGTCCACACACAGGGAGTCTGGCTGAGCTGGGGAAAGGCCACGGCTGGGTGTCATTGCCATTTTCCCAGCTCATCTCACCGGGAAGAAAAGCAGATTGACAGAACACGTGAGGAGGGGTATTGATGGCAGGAGAGTCAAAAAAGAGTTTTAAAGAAGGGGCAAGGTTGAAGGAGTCTAGTGGCAAGGGTAAGATTTCAGGCATGGTTAAGAACAGACGACAAGGATGTCAGGAATGAAGATGTGGAGAGGGGTGTAGAGATGGCAAGGTTGGCAAGGAACAGATAGGCAGGAGCAGGTCCAAGCCAAGCCTAGCCCAAGACCAGGTGAAAGGAGAGGGGAGGAGGAGCCACCTGCAAGAGATGGAAAGAGCAGGCGGCAGAGGGGGCTGGCAGGGAGGGGCTGTTAAGAGTGGGGTTGGAGGTGGGAGAGAAGCTAGGACAAGGGAGATGGAGAAAGGACCTATACCTGGCTCACGGAAGGCCTTCAGGTCACTACACGTTGAACATCCCCAGTGTTTGAGCCCCCAAAGCTAGGGTGCAAGAGCACTGCCATCGAATGCCAGTGGGTGAGGCCAAGTGAGGGTATTTGCAGCTCTAGACATAACCAAGAAGCGTAAAGGTGAGTTGTTTGGTGGTACGACTGCCTGTGCCTTCTTCCGATGGCACTGGGGTGGCTGAAGGAACAGACATCTTTGGGTTTCATCAGCCTCCTCCAAGACTGCTGCAGTGCCTACACTTTAGACTTCAGAAGGAGACTAAAGACTTCTAGAATTTAGAAGGAGATCTGAAGTCTCCTTTCTGGAGTTACAAC
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GCCTTGGTCCAACCCACCTTCCCTAATTTTTGAGACCTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCATGCCTGGCCCGGGACATTGCTTTTTAAAGGAGGGTAGGGCTTGTCCCAGGTGAAGCTTTGTGGATGGAACTTCCAAGTGTGACATAGCTGTTTAGTATCCCAGTTACCCTTCTCAGAGGAGGTTGGAGTTGCTGTGAGCAGAGGCTGCTGCGGAGGGAAGATGTCAAGACCTCGGTTCGAATTCCAGCTTTGCCGCCGCTGGCTTAGCTGTCGCGTGCTGGTCAGTACTAAGTGGTGATGACAGCTGCTGACCTTACAGAGCACTCACTGTGTGCCAGGCATTGTGCTGTGCCTGCGTGTGCTTTGCCTGTTTTAGCATCACAAACATCCTGCGAGGGAGGTTTTTGTGTTCTTGCTTTAGGGAAGAGAAACTCTGCAAAGGTCATCTGGCTGAGGAAGTGGCAAAGCCACGACTCGGACGCCAGAGACTGGCTCTGACCTCAGCGCTCCAGCATCCTCCTCCCGCCCCAGTTCTCCCACCTGTGAAGGAGCGCGGTGCTGCGGGCCCTGCCCATTCCCCAGGGGGATGTACTTGGGGAAAACAGACACTCAAGTGAGTCCCACGGAAGGTGCTGGTGCCCCCACTTCATGCGGCACCAGCTGGACCTGTGAGACACTGCTGGAGCCCACAGACCCTCCTGGAGCCCAGAGCTGGGCAGCTGTGGCCATCCCAATGCATTTTTGGAATTCTCCAGATAGTAGAAAAGTCACTTCCTGAAATAGTTGGAAGACATGGCTGGACAGCATTCCCAGGGCATCTTTTTATTCACGCAGCATTGCACAGTTAAGACAAGGGGCCTCCCCATAGGCAGCGGTGGAGTCTTGCTCCCAGGGCCTCCTGCACAGGGCAGGAGGCAGGACAAAGACGCTGAGCTGGACAATGAATGAACAGGAACATATCACATTGCTGTGGCCACAGGCTGGCACAGGGCTGGAGAGGCAAGCCTGGCATGAAGCGGGTGGCCTGATAGGGAAGGGTCGCCCACTTAACAAATATATACTGAGCCTGACTGTATCAGACTGTGTTCTAGGCACTGGGAAAAGGGGGGTGAATAAGGCAGATCTGGCCTCCTTGTGAGCGAACATTCTAATGTGGGGAGACAAGCACATAAATCAGAAGATGCTGTTGGGACTGTGGAGGGCTCTGAAGGCAGTAAAGTGGGGTGATGTGAGGAAGAGGCGTGGGCGGCCTGCCCTGGAGGAGTGATCAGGGAGGAGGTGGGTGCACTTGCCTGACTCAAAGGAAGTGACCAGGTGCAGAGCTGGGGCTGCTCCTTTCCTGGTGGGTGGGGAGAACGTCAAGTGCAAAGGTTGGAGGCAGGAGTGAGCTTGGCATTTTTTTAGGAATGGAAAGAAAGCCACAGGGCATCGGGGGTGAGCAAGGCGAGGGTGGGAGGAGGTGAGGTCGTGGGCTTGGCAAGGACTAGATCCCATAGGGCTTGTGGGCCATGGCTTTGTTTAGAAACGCTTCACGGCAGAAGGTCCATTCTGGGTCAGGTTTGTGCGGAAAGTGGGGAGGTCATTCTTAGGGTGGGTGGAAGGAGCTCTGAGGGACGGTAAACAGACTCGCTGTTCTGAAAACAAACTGGGAGCTGGGCGTGTGGAGCGGCCCCGTGGTAATCTCTCTTCTACCACTTTTTCATGCCTTGCAGCACTTTGCCCATAGGGAGGAAGGGGAAGTGCCCCAGCTCGCTGTACATGGCCTGCCTGGAGACCCTGTCCCAGGACCTCAGACCTCCAGTCATCCTGATCCGAGGAAACCAGGAAAACGTGCTCACCTTTTACTGCCAGTAACTCCAGGCTTTGACATCCCTGTCCACAGCTCTGAGTGTGTGGGATAAGTTGGAACTTGATTGCCTCTAGTCCACAGGGATGAGACTCATGTTCTGTTGCACTTTAAGTGGCAGCATCTGATGATCTCACCGAAAAAGATGGTAGATTTCCAAATCTGGCTGGACTCCACTTCCATGGGACACATTCCCTGGGTCTTGTGTTTATAGGCTAGAGAAATAGCAGATGGAGCTGCAAGGAAAACTCTCTAAAGCATCCTATTCCTTTTAAAGGATTTCTTTTGATTTTGATGACCATTAATTAAGAGTTCAGTCTTTGATTTGTATGCAAATTGGAGTCCCAATGCTGGGCGTGAATCTTGACAGTTTCTACAGACCTTCCTGGGTGAAAGTTCCTAAATCATGCCCTGCTTCCTCCAATAGGAGAATGGGAGCCTCACCTGTAGGACCTACAGGCTCTCTAAGGAATGCAGGTCTCTCTCTGAGCCTCCACAGCCAGGCAAATACATATATATATATTTTTTTTTTAGATGAAGTTTTTTCTCTTGTTGCCCAGGCTAGGGTGTAATGGCATGATCTCAGGTCACTGCAACCTCCTCCCGGGTTCAAGCATTTCTTCTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCACCTGCCATCACACGAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTGTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGTGCTGGGGTTACAGGCCTGAGCCACTGCGCCCGGCCCAGGCAAATTTCTTGAACCACTTCTCACTCCCGTCACTTTCAATAAGGGGTCTTTGATGTCTTCACTGGTTCTTTGGACGAGGGACTTTTCGAACTTTTTTGGTTGCAACACACAGTAAGAAATATACTTCACACTGAGACTTGCAGCGCACACACACGGAAACGACCAAAACAAAAATGTCACAAAACAATACTTACCCTTCCCTGGGGGACGTCCTCCAGTATGTTCTGTTCTGTTTATTTTTCACTGTTGGTTGCAATCCAATAAAATGACTTTGGGATCCACTCATGGGTGGGGACCCACACATTTGAAAGGCATGGCCACCTTTCTGTTGTGCCTTGCATTTGTCCACACACAGGGAGTCTGGCTGAGCTGGGGAAAGGCCACGGCTGGGTGTCATTGCCATTTTCCCAGCTCATCTCACCGGGAAGAAAAGCAGATTGACAGAACACGTGAGGAGGGGTATTGATGGCAGGAGAGTCAAAAAAGAGTTTTAAAGAAGGGGCAAGGTTGAAGGAGTCTAGTGGCAAGGGTAAGATTTCAGGCATGGTTAAGAACAGACGACAAGGATGTCAGGAATGAAGATGTGGAGAGGGGTGTAGAGATGGCAAGGTTGGCAAGGAACAGATAGGCAGGAGCAGGTCCAAGCCAAGCCTAGCCCAAGACCAGGTGAAAGGAGAGGGGAGGAGGAGCCACCTGCAAGAGATGGAAAGAGCAGGCGGCAGAGGGGGCTGGCAGGGAGGGGCTGTTAAGAGTGGGGTTGGAGGTGGGAGAGAAGCTAGGACAAGGGAGATGGAGAAAGGACCTATACCTGGCTCACGGAAGGCCTTCAGGTCACTACACGTTGAACATCCCCAGTGTTTGAGCCCCCAAAGCTAGGGTGCAAGAGCACTGCCATCGAATGCCAGTGGGTGAGGCCAAGTGAGGGTATTTGCAGCTCTAGACATAACCAAGAAGCGTAAAGGTGAGTTGTTTGGTGGTACGACTGCCTGTGCCTTCTTCCGATGGCACTGGGGTGGCTGAAGGAACAGACATCTTTGGGTTTCATCAGCCTCCTCCAAGACTGCTGCAGTGCCTACACTTTAGACTTCAGAAGGAGACTAAAGACTTCTAGAATTTAGAAGGAGATCTGAAGTCTCCTTTCTGGAGTTACAAC
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Task1_train_22745
|
The gene LOC126862361, SLC12A3 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:56946332-56947531| solute carrier family 12 member 3) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Familial hypokalemia-hypomagnesemia
|
TTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCATGCCTGGCCCGGGACATTGCTTTTTAAAGGAGGGTAGGGCTTGTCCCAGGTGAAGCTTTGTGGATGGAACTTCCAAGTGTGACATAGCTGTTTAGTATCCCAGTTACCCTTCTCAGAGGAGGTTGGAGTTGCTGTGAGCAGAGGCTGCTGCGGAGGGAAGATGTCAAGACCTCGGTTCGAATTCCAGCTTTGCCGCCGCTGGCTTAGCTGTCGCGTGCTGGTCAGTACTAAGTGGTGATGACAGCTGCTGACCTTACAGAGCACTCACTGTGTGCCAGGCATTGTGCTGTGCCTGCGTGTGCTTTGCCTGTTTTAGCATCACAAACATCCTGCGAGGGAGGTTTTTGTGTTCTTGCTTTAGGGAAGAGAAACTCTGCAAAGGTCATCTGGCTGAGGAAGTGGCAAAGCCACGACTCGGACGCCAGAGACTGGCTCTGACCTCAGCGCTCCAGCATCCTCCTCCCGCCCCAGTTCTCCCACCTGTGAAGGAGCGCGGTGCTGCGGGCCCTGCCCATTCCCCAGGGGGATGTACTTGGGGAAAACAGACACTCAAGTGAGTCCCACGGAAGGTGCTGGTGCCCCCACTTCATGCGGCACCAGCTGGACCTGTGAGACACTGCTGGAGCCCACAGACCCTCCTGGAGCCCAGAGCTGGGCAGCTGTGGCCATCCCAATGCATTTTTGGAATTCTCCAGATAGTAGAAAAGTCACTTCCTGAAATAGTTGGAAGACATGGCTGGACAGCATTCCCAGGGCATCTTTTTATTCACGCAGCATTGCACAGTTAAGACAAGGGGCCTCCCCATAGGCAGCGGTGGAGTCTTGCTCCCAGGGCCTCCTGCACAGGGCAGGAGGCAGGACAAAGACGCTGAGCTGGACAATGAATGAACAGGAACATATCACATTGCTGTGGCCACAGGCTGGCACAGGGCTGGAGAGGCAAGCCTGGCATGAAGCGGGTGGCCTGATAGGGAAGGGTCGCCCACTTAACAAATATATACTGAGCCTGACTGTATCAGACTGTGTTCTAGGCACTGGGAAAAGGGGGGTGAATAAGGCAGATCTGGCCTCCTTGTGAGCGAACATTCTAATGTGGGGAGACAAGCACATAAATCAGAAGATGCTGTTGGGACTGTGGAGGGCTCTGAAGGCAGTAAAGTGGGGTGATGTGAGGAAGAGGCGTGGGCGGCCTGCCCTGGAGGAGTGATCAGGGAGGAGGTGGGTGCACTTGCCTGACTCAAAGGAAGTGACCAGGTGCAGAGCTGGGGCTGCTCCTTTCCTGGTGGGTGGGGAGAACGTCAAGTGCAAAGGTTGGAGGCAGGAGTGAGCTTGGCATTTTTTTAGGAATGGAAAGAAAGCCACAGGGCATCGGGGGTGAGCAAGGCGAGGGTGGGAGGAGGTGAGGTCGTGGGCTTGGCAAGGACTAGATCCCATAGGGCTTGTGGGCCATGGCTTTGTTTAGAAACGCTTCACGGCAGAAGGTCCATTCTGGGTCAGGTTTGTGCGGAAAGTGGGGAGGTCATTCTTAGGGTGGGTGGAAGGAGCTCTGAGGGACGGTAAACAGACTCGCTGTTCTGAAAACAAACTGGGAGCTGGGCGTGTGGAGCGGCCCCGTGGTAATCTCTCTTCTACCACTTTTTCATGCCTTGCAGCACTTTGCCCATAGGGAGGAAGGGGAAGTGCCCCAGCTCGCTGTACATGGCCTGGCTGGAGACCCTGTCCCAGGACCTCAGACCTCCAGTCATCCTGATCCGAGGAAACCAGGAAAACGTGCTCACCTTTTACTGCCAGTAACTCCAGGCTTTGACATCCCTGTCCACAGCTCTGAGTGTGTGGGATAAGTTGGAACTTGATTGCCTCTAGTCCACAGGGATGAGACTCATGTTCTGTTGCACTTTAAGTGGCAGCATCTGATGATCTCACCGAAAAAGATGGTAGATTTCCAAATCTGGCTGGACTCCACTTCCATGGGACACATTCCCTGGGTCTTGTGTTTATAGGCTAGAGAAATAGCAGATGGAGCTGCAAGGAAAACTCTCTAAAGCATCCTATTCCTTTTAAAGGATTTCTTTTGATTTTGATGACCATTAATTAAGAGTTCAGTCTTTGATTTGTATGCAAATTGGAGTCCCAATGCTGGGCGTGAATCTTGACAGTTTCTACAGACCTTCCTGGGTGAAAGTTCCTAAATCATGCCCTGCTTCCTCCAATAGGAGAATGGGAGCCTCACCTGTAGGACCTACAGGCTCTCTAAGGAATGCAGGTCTCTCTCTGAGCCTCCACAGCCAGGCAAATACATATATATATATTTTTTTTTTAGATGAAGTTTTTTCTCTTGTTGCCCAGGCTAGGGTGTAATGGCATGATCTCAGGTCACTGCAACCTCCTCCCGGGTTCAAGCATTTCTTCTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCACCTGCCATCACACGAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTGTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGTGCTGGGGTTACAGGCCTGAGCCACTGCGCCCGGCCCAGGCAAATTTCTTGAACCACTTCTCACTCCCGTCACTTTCAATAAGGGGTCTTTGATGTCTTCACTGGTTCTTTGGACGAGGGACTTTTCGAACTTTTTTGGTTGCAACACACAGTAAGAAATATACTTCACACTGAGACTTGCAGCGCACACACACGGAAACGACCAAAACAAAAATGTCACAAAACAATACTTACCCTTCCCTGGGGGACGTCCTCCAGTATGTTCTGTTCTGTTTATTTTTCACTGTTGGTTGCAATCCAATAAAATGACTTTGGGATCCACTCATGGGTGGGGACCCACACATTTGAAAGGCATGGCCACCTTTCTGTTGTGCCTTGCATTTGTCCACACACAGGGAGTCTGGCTGAGCTGGGGAAAGGCCACGGCTGGGTGTCATTGCCATTTTCCCAGCTCATCTCACCGGGAAGAAAAGCAGATTGACAGAACACGTGAGGAGGGGTATTGATGGCAGGAGAGTCAAAAAAGAGTTTTAAAGAAGGGGCAAGGTTGAAGGAGTCTAGTGGCAAGGGTAAGATTTCAGGCATGGTTAAGAACAGACGACAAGGATGTCAGGAATGAAGATGTGGAGAGGGGTGTAGAGATGGCAAGGTTGGCAAGGAACAGATAGGCAGGAGCAGGTCCAAGCCAAGCCTAGCCCAAGACCAGGTGAAAGGAGAGGGGAGGAGGAGCCACCTGCAAGAGATGGAAAGAGCAGGCGGCAGAGGGGGCTGGCAGGGAGGGGCTGTTAAGAGTGGGGTTGGAGGTGGGAGAGAAGCTAGGACAAGGGAGATGGAGAAAGGACCTATACCTGGCTCACGGAAGGCCTTCAGGTCACTACACGTTGAACATCCCCAGTGTTTGAGCCCCCAAAGCTAGGGTGCAAGAGCACTGCCATCGAATGCCAGTGGGTGAGGCCAAGTGAGGGTATTTGCAGCTCTAGACATAACCAAGAAGCGTAAAGGTGAGTTGTTTGGTGGTACGACTGCCTGTGCCTTCTTCCGATGGCACTGGGGTGGCTGAAGGAACAGACATCTTTGGGTTTCATCAGCCTCCTCCAAGACTGCTGCAGTGCCTACACTTTAGACTTCAGAAGGAGACTAAAGACTTCTAGAATTTAGAAGGAGATCTGAAGTCTCCTTTCTGGAGTTACAACCCAAAGGATGTTAGCATTTCTCAGGTCATCCCACTGCAAAGCCCAGA
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TTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCATGCCTGGCCCGGGACATTGCTTTTTAAAGGAGGGTAGGGCTTGTCCCAGGTGAAGCTTTGTGGATGGAACTTCCAAGTGTGACATAGCTGTTTAGTATCCCAGTTACCCTTCTCAGAGGAGGTTGGAGTTGCTGTGAGCAGAGGCTGCTGCGGAGGGAAGATGTCAAGACCTCGGTTCGAATTCCAGCTTTGCCGCCGCTGGCTTAGCTGTCGCGTGCTGGTCAGTACTAAGTGGTGATGACAGCTGCTGACCTTACAGAGCACTCACTGTGTGCCAGGCATTGTGCTGTGCCTGCGTGTGCTTTGCCTGTTTTAGCATCACAAACATCCTGCGAGGGAGGTTTTTGTGTTCTTGCTTTAGGGAAGAGAAACTCTGCAAAGGTCATCTGGCTGAGGAAGTGGCAAAGCCACGACTCGGACGCCAGAGACTGGCTCTGACCTCAGCGCTCCAGCATCCTCCTCCCGCCCCAGTTCTCCCACCTGTGAAGGAGCGCGGTGCTGCGGGCCCTGCCCATTCCCCAGGGGGATGTACTTGGGGAAAACAGACACTCAAGTGAGTCCCACGGAAGGTGCTGGTGCCCCCACTTCATGCGGCACCAGCTGGACCTGTGAGACACTGCTGGAGCCCACAGACCCTCCTGGAGCCCAGAGCTGGGCAGCTGTGGCCATCCCAATGCATTTTTGGAATTCTCCAGATAGTAGAAAAGTCACTTCCTGAAATAGTTGGAAGACATGGCTGGACAGCATTCCCAGGGCATCTTTTTATTCACGCAGCATTGCACAGTTAAGACAAGGGGCCTCCCCATAGGCAGCGGTGGAGTCTTGCTCCCAGGGCCTCCTGCACAGGGCAGGAGGCAGGACAAAGACGCTGAGCTGGACAATGAATGAACAGGAACATATCACATTGCTGTGGCCACAGGCTGGCACAGGGCTGGAGAGGCAAGCCTGGCATGAAGCGGGTGGCCTGATAGGGAAGGGTCGCCCACTTAACAAATATATACTGAGCCTGACTGTATCAGACTGTGTTCTAGGCACTGGGAAAAGGGGGGTGAATAAGGCAGATCTGGCCTCCTTGTGAGCGAACATTCTAATGTGGGGAGACAAGCACATAAATCAGAAGATGCTGTTGGGACTGTGGAGGGCTCTGAAGGCAGTAAAGTGGGGTGATGTGAGGAAGAGGCGTGGGCGGCCTGCCCTGGAGGAGTGATCAGGGAGGAGGTGGGTGCACTTGCCTGACTCAAAGGAAGTGACCAGGTGCAGAGCTGGGGCTGCTCCTTTCCTGGTGGGTGGGGAGAACGTCAAGTGCAAAGGTTGGAGGCAGGAGTGAGCTTGGCATTTTTTTAGGAATGGAAAGAAAGCCACAGGGCATCGGGGGTGAGCAAGGCGAGGGTGGGAGGAGGTGAGGTCGTGGGCTTGGCAAGGACTAGATCCCATAGGGCTTGTGGGCCATGGCTTTGTTTAGAAACGCTTCACGGCAGAAGGTCCATTCTGGGTCAGGTTTGTGCGGAAAGTGGGGAGGTCATTCTTAGGGTGGGTGGAAGGAGCTCTGAGGGACGGTAAACAGACTCGCTGTTCTGAAAACAAACTGGGAGCTGGGCGTGTGGAGCGGCCCCGTGGTAATCTCTCTTCTACCACTTTTTCATGCCTTGCAGCACTTTGCCCATAGGGAGGAAGGGGAAGTGCCCCAGCTCGCTGTACATGGCCTGGCTGGAGACCCTGTCCCAGGACCTCAGACCTCCAGTCATCCTGATCCAAGGAAACCAGGAAAACGTGCTCACCTTTTACTGCCAGTAACTCCAGGCTTTGACATCCCTGTCCACAGCTCTGAGTGTGTGGGATAAGTTGGAACTTGATTGCCTCTAGTCCACAGGGATGAGACTCATGTTCTGTTGCACTTTAAGTGGCAGCATCTGATGATCTCACCGAAAAAGATGGTAGATTTCCAAATCTGGCTGGACTCCACTTCCATGGGACACATTCCCTGGGTCTTGTGTTTATAGGCTAGAGAAATAGCAGATGGAGCTGCAAGGAAAACTCTCTAAAGCATCCTATTCCTTTTAAAGGATTTCTTTTGATTTTGATGACCATTAATTAAGAGTTCAGTCTTTGATTTGTATGCAAATTGGAGTCCCAATGCTGGGCGTGAATCTTGACAGTTTCTACAGACCTTCCTGGGTGAAAGTTCCTAAATCATGCCCTGCTTCCTCCAATAGGAGAATGGGAGCCTCACCTGTAGGACCTACAGGCTCTCTAAGGAATGCAGGTCTCTCTCTGAGCCTCCACAGCCAGGCAAATACATATATATATATTTTTTTTTTAGATGAAGTTTTTTCTCTTGTTGCCCAGGCTAGGGTGTAATGGCATGATCTCAGGTCACTGCAACCTCCTCCCGGGTTCAAGCATTTCTTCTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCACCTGCCATCACACGAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTGTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGTGCTGGGGTTACAGGCCTGAGCCACTGCGCCCGGCCCAGGCAAATTTCTTGAACCACTTCTCACTCCCGTCACTTTCAATAAGGGGTCTTTGATGTCTTCACTGGTTCTTTGGACGAGGGACTTTTCGAACTTTTTTGGTTGCAACACACAGTAAGAAATATACTTCACACTGAGACTTGCAGCGCACACACACGGAAACGACCAAAACAAAAATGTCACAAAACAATACTTACCCTTCCCTGGGGGACGTCCTCCAGTATGTTCTGTTCTGTTTATTTTTCACTGTTGGTTGCAATCCAATAAAATGACTTTGGGATCCACTCATGGGTGGGGACCCACACATTTGAAAGGCATGGCCACCTTTCTGTTGTGCCTTGCATTTGTCCACACACAGGGAGTCTGGCTGAGCTGGGGAAAGGCCACGGCTGGGTGTCATTGCCATTTTCCCAGCTCATCTCACCGGGAAGAAAAGCAGATTGACAGAACACGTGAGGAGGGGTATTGATGGCAGGAGAGTCAAAAAAGAGTTTTAAAGAAGGGGCAAGGTTGAAGGAGTCTAGTGGCAAGGGTAAGATTTCAGGCATGGTTAAGAACAGACGACAAGGATGTCAGGAATGAAGATGTGGAGAGGGGTGTAGAGATGGCAAGGTTGGCAAGGAACAGATAGGCAGGAGCAGGTCCAAGCCAAGCCTAGCCCAAGACCAGGTGAAAGGAGAGGGGAGGAGGAGCCACCTGCAAGAGATGGAAAGAGCAGGCGGCAGAGGGGGCTGGCAGGGAGGGGCTGTTAAGAGTGGGGTTGGAGGTGGGAGAGAAGCTAGGACAAGGGAGATGGAGAAAGGACCTATACCTGGCTCACGGAAGGCCTTCAGGTCACTACACGTTGAACATCCCCAGTGTTTGAGCCCCCAAAGCTAGGGTGCAAGAGCACTGCCATCGAATGCCAGTGGGTGAGGCCAAGTGAGGGTATTTGCAGCTCTAGACATAACCAAGAAGCGTAAAGGTGAGTTGTTTGGTGGTACGACTGCCTGTGCCTTCTTCCGATGGCACTGGGGTGGCTGAAGGAACAGACATCTTTGGGTTTCATCAGCCTCCTCCAAGACTGCTGCAGTGCCTACACTTTAGACTTCAGAAGGAGACTAAAGACTTCTAGAATTTAGAAGGAGATCTGAAGTCTCCTTTCTGGAGTTACAACCCAAAGGATGTTAGCATTTCTCAGGTCATCCCACTGCAAAGCCCAGA
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Task1_train_22746
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A sequence alteration has been identified in LOC126862361, SLC12A3 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:56946332-56947531| solute carrier family 12 member 3) on Chromosome 16. Is it disease-inducing or harmless?
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Pathogenic; Familial hypokalemia-hypomagnesemia
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TTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCATGCCTGGCCCGGGACATTGCTTTTTAAAGGAGGGTAGGGCTTGTCCCAGGTGAAGCTTTGTGGATGGAACTTCCAAGTGTGACATAGCTGTTTAGTATCCCAGTTACCCTTCTCAGAGGAGGTTGGAGTTGCTGTGAGCAGAGGCTGCTGCGGAGGGAAGATGTCAAGACCTCGGTTCGAATTCCAGCTTTGCCGCCGCTGGCTTAGCTGTCGCGTGCTGGTCAGTACTAAGTGGTGATGACAGCTGCTGACCTTACAGAGCACTCACTGTGTGCCAGGCATTGTGCTGTGCCTGCGTGTGCTTTGCCTGTTTTAGCATCACAAACATCCTGCGAGGGAGGTTTTTGTGTTCTTGCTTTAGGGAAGAGAAACTCTGCAAAGGTCATCTGGCTGAGGAAGTGGCAAAGCCACGACTCGGACGCCAGAGACTGGCTCTGACCTCAGCGCTCCAGCATCCTCCTCCCGCCCCAGTTCTCCCACCTGTGAAGGAGCGCGGTGCTGCGGGCCCTGCCCATTCCCCAGGGGGATGTACTTGGGGAAAACAGACACTCAAGTGAGTCCCACGGAAGGTGCTGGTGCCCCCACTTCATGCGGCACCAGCTGGACCTGTGAGACACTGCTGGAGCCCACAGACCCTCCTGGAGCCCAGAGCTGGGCAGCTGTGGCCATCCCAATGCATTTTTGGAATTCTCCAGATAGTAGAAAAGTCACTTCCTGAAATAGTTGGAAGACATGGCTGGACAGCATTCCCAGGGCATCTTTTTATTCACGCAGCATTGCACAGTTAAGACAAGGGGCCTCCCCATAGGCAGCGGTGGAGTCTTGCTCCCAGGGCCTCCTGCACAGGGCAGGAGGCAGGACAAAGACGCTGAGCTGGACAATGAATGAACAGGAACATATCACATTGCTGTGGCCACAGGCTGGCACAGGGCTGGAGAGGCAAGCCTGGCATGAAGCGGGTGGCCTGATAGGGAAGGGTCGCCCACTTAACAAATATATACTGAGCCTGACTGTATCAGACTGTGTTCTAGGCACTGGGAAAAGGGGGGTGAATAAGGCAGATCTGGCCTCCTTGTGAGCGAACATTCTAATGTGGGGAGACAAGCACATAAATCAGAAGATGCTGTTGGGACTGTGGAGGGCTCTGAAGGCAGTAAAGTGGGGTGATGTGAGGAAGAGGCGTGGGCGGCCTGCCCTGGAGGAGTGATCAGGGAGGAGGTGGGTGCACTTGCCTGACTCAAAGGAAGTGACCAGGTGCAGAGCTGGGGCTGCTCCTTTCCTGGTGGGTGGGGAGAACGTCAAGTGCAAAGGTTGGAGGCAGGAGTGAGCTTGGCATTTTTTTAGGAATGGAAAGAAAGCCACAGGGCATCGGGGGTGAGCAAGGCGAGGGTGGGAGGAGGTGAGGTCGTGGGCTTGGCAAGGACTAGATCCCATAGGGCTTGTGGGCCATGGCTTTGTTTAGAAACGCTTCACGGCAGAAGGTCCATTCTGGGTCAGGTTTGTGCGGAAAGTGGGGAGGTCATTCTTAGGGTGGGTGGAAGGAGCTCTGAGGGACGGTAAACAGACTCGCTGTTCTGAAAACAAACTGGGAGCTGGGCGTGTGGAGCGGCCCCGTGGTAATCTCTCTTCTACCACTTTTTCATGCCTTGCAGCACTTTGCCCATAGGGAGGAAGGGGAAGTGCCCCAGCTCGCTGTACATGGCCTGGCTGGAGACCCTGTCCCAGGACCTCAGACCTCCAGTCATCCTGATCCGAGGAAACCAGGAAAACGTGCTCACCTTTTACTGCCAGTAACTCCAGGCTTTGACATCCCTGTCCACAGCTCTGAGTGTGTGGGATAAGTTGGAACTTGATTGCCTCTAGTCCACAGGGATGAGACTCATGTTCTGTTGCACTTTAAGTGGCAGCATCTGATGATCTCACCGAAAAAGATGGTAGATTTCCAAATCTGGCTGGACTCCACTTCCATGGGACACATTCCCTGGGTCTTGTGTTTATAGGCTAGAGAAATAGCAGATGGAGCTGCAAGGAAAACTCTCTAAAGCATCCTATTCCTTTTAAAGGATTTCTTTTGATTTTGATGACCATTAATTAAGAGTTCAGTCTTTGATTTGTATGCAAATTGGAGTCCCAATGCTGGGCGTGAATCTTGACAGTTTCTACAGACCTTCCTGGGTGAAAGTTCCTAAATCATGCCCTGCTTCCTCCAATAGGAGAATGGGAGCCTCACCTGTAGGACCTACAGGCTCTCTAAGGAATGCAGGTCTCTCTCTGAGCCTCCACAGCCAGGCAAATACATATATATATATTTTTTTTTTAGATGAAGTTTTTTCTCTTGTTGCCCAGGCTAGGGTGTAATGGCATGATCTCAGGTCACTGCAACCTCCTCCCGGGTTCAAGCATTTCTTCTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCACCTGCCATCACACGAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTGTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGTGCTGGGGTTACAGGCCTGAGCCACTGCGCCCGGCCCAGGCAAATTTCTTGAACCACTTCTCACTCCCGTCACTTTCAATAAGGGGTCTTTGATGTCTTCACTGGTTCTTTGGACGAGGGACTTTTCGAACTTTTTTGGTTGCAACACACAGTAAGAAATATACTTCACACTGAGACTTGCAGCGCACACACACGGAAACGACCAAAACAAAAATGTCACAAAACAATACTTACCCTTCCCTGGGGGACGTCCTCCAGTATGTTCTGTTCTGTTTATTTTTCACTGTTGGTTGCAATCCAATAAAATGACTTTGGGATCCACTCATGGGTGGGGACCCACACATTTGAAAGGCATGGCCACCTTTCTGTTGTGCCTTGCATTTGTCCACACACAGGGAGTCTGGCTGAGCTGGGGAAAGGCCACGGCTGGGTGTCATTGCCATTTTCCCAGCTCATCTCACCGGGAAGAAAAGCAGATTGACAGAACACGTGAGGAGGGGTATTGATGGCAGGAGAGTCAAAAAAGAGTTTTAAAGAAGGGGCAAGGTTGAAGGAGTCTAGTGGCAAGGGTAAGATTTCAGGCATGGTTAAGAACAGACGACAAGGATGTCAGGAATGAAGATGTGGAGAGGGGTGTAGAGATGGCAAGGTTGGCAAGGAACAGATAGGCAGGAGCAGGTCCAAGCCAAGCCTAGCCCAAGACCAGGTGAAAGGAGAGGGGAGGAGGAGCCACCTGCAAGAGATGGAAAGAGCAGGCGGCAGAGGGGGCTGGCAGGGAGGGGCTGTTAAGAGTGGGGTTGGAGGTGGGAGAGAAGCTAGGACAAGGGAGATGGAGAAAGGACCTATACCTGGCTCACGGAAGGCCTTCAGGTCACTACACGTTGAACATCCCCAGTGTTTGAGCCCCCAAAGCTAGGGTGCAAGAGCACTGCCATCGAATGCCAGTGGGTGAGGCCAAGTGAGGGTATTTGCAGCTCTAGACATAACCAAGAAGCGTAAAGGTGAGTTGTTTGGTGGTACGACTGCCTGTGCCTTCTTCCGATGGCACTGGGGTGGCTGAAGGAACAGACATCTTTGGGTTTCATCAGCCTCCTCCAAGACTGCTGCAGTGCCTACACTTTAGACTTCAGAAGGAGACTAAAGACTTCTAGAATTTAGAAGGAGATCTGAAGTCTCCTTTCTGGAGTTACAACCCAAAGGATGTTAGCATTTCTCAGGTCATCCCACTGCAAAGCCCAGAAGGCTTGGGGCTCCCAGGCTGCTC
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TTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCATGCTCACTGCAGCCTCGACCTCCCAGGCTCAAACGATCCTCCCGCCTCAGCATCCTGAGGAGCTGGGACCACAGGCGTGTGCCATCATGCCCAGCTAATTTTTCTATTTTTTGTAAAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCATGCCTGGCCCGGGACATTGCTTTTTAAAGGAGGGTAGGGCTTGTCCCAGGTGAAGCTTTGTGGATGGAACTTCCAAGTGTGACATAGCTGTTTAGTATCCCAGTTACCCTTCTCAGAGGAGGTTGGAGTTGCTGTGAGCAGAGGCTGCTGCGGAGGGAAGATGTCAAGACCTCGGTTCGAATTCCAGCTTTGCCGCCGCTGGCTTAGCTGTCGCGTGCTGGTCAGTACTAAGTGGTGATGACAGCTGCTGACCTTACAGAGCACTCACTGTGTGCCAGGCATTGTGCTGTGCCTGCGTGTGCTTTGCCTGTTTTAGCATCACAAACATCCTGCGAGGGAGGTTTTTGTGTTCTTGCTTTAGGGAAGAGAAACTCTGCAAAGGTCATCTGGCTGAGGAAGTGGCAAAGCCACGACTCGGACGCCAGAGACTGGCTCTGACCTCAGCGCTCCAGCATCCTCCTCCCGCCCCAGTTCTCCCACCTGTGAAGGAGCGCGGTGCTGCGGGCCCTGCCCATTCCCCAGGGGGATGTACTTGGGGAAAACAGACACTCAAGTGAGTCCCACGGAAGGTGCTGGTGCCCCCACTTCATGCGGCACCAGCTGGACCTGTGAGACACTGCTGGAGCCCACAGACCCTCCTGGAGCCCAGAGCTGGGCAGCTGTGGCCATCCCAATGCATTTTTGGAATTCTCCAGATAGTAGAAAAGTCACTTCCTGAAATAGTTGGAAGACATGGCTGGACAGCATTCCCAGGGCATCTTTTTATTCACGCAGCATTGCACAGTTAAGACAAGGGGCCTCCCCATAGGCAGCGGTGGAGTCTTGCTCCCAGGGCCTCCTGCACAGGGCAGGAGGCAGGACAAAGACGCTGAGCTGGACAATGAATGAACAGGAACATATCACATTGCTGTGGCCACAGGCTGGCACAGGGCTGGAGAGGCAAGCCTGGCATGAAGCGGGTGGCCTGATAGGGAAGGGTCGCCCACTTAACAAATATATACTGAGCCTGACTGTATCAGACTGTGTTCTAGGCACTGGGAAAAGGGGGGTGAATAAGGCAGATCTGGCCTCCTTGTGAGCGAACATTCTAATGTGGGGAGACAAGCACATAAATCAGAAGATGCTGTTGGGACTGTGGAGGGCTCTGAAGGCAGTAAAGTGGGGTGATGTGAGGAAGAGGCGTGGGCGGCCTGCCCTGGAGGAGTGATCAGGGAGGAGGTGGGTGCACTTGCCTGACTCAAAGGAAGTGACCAGGTGCAGAGCTGGGGCTGCTCCTTTCCTGGTGGGTGGGGAGAACGTCAAGTGCAAAGGTTGGAGGCAGGAGTGAGCTTGGCATTTTTTTAGGAATGGAAAGAAAGCCACAGGGCATCGGGGGTGAGCAAGGCGAGGGTGGGAGGAGGTGAGGTCGTGGGCTTGGCAAGGACTAGATCCCATAGGGCTTGTGGGCCATGGCTTTGTTTAGAAACGCTTCACGGCAGAAGGTCCATTCTGGGTCAGGTTTGTGCGGAAAGTGGGGAGGTCATTCTTAGGGTGGGTGGAAGGAGCTCTGAGGGACGGTAAACAGACTCGCTGTTCTGAAAACAAACTGGGAGCTGGGCGTGTGGAGCGGCCCCGTGGTAATCTCTCTTCTACCACTTTTTCATGCCTTGCAGCACTTTGCCCATAGGGAGGAAGGGGAAGTGCCCCAGCTCGCTGTACATGGCCTGGCTGGAGACCCTGTCCCAGGACCTCAGACCTCCAGTCATCCTGATCCGAGGAAACCAGGAAAACGTGCTCATCTTTTACTGCCAGTAACTCCAGGCTTTGACATCCCTGTCCACAGCTCTGAGTGTGTGGGATAAGTTGGAACTTGATTGCCTCTAGTCCACAGGGATGAGACTCATGTTCTGTTGCACTTTAAGTGGCAGCATCTGATGATCTCACCGAAAAAGATGGTAGATTTCCAAATCTGGCTGGACTCCACTTCCATGGGACACATTCCCTGGGTCTTGTGTTTATAGGCTAGAGAAATAGCAGATGGAGCTGCAAGGAAAACTCTCTAAAGCATCCTATTCCTTTTAAAGGATTTCTTTTGATTTTGATGACCATTAATTAAGAGTTCAGTCTTTGATTTGTATGCAAATTGGAGTCCCAATGCTGGGCGTGAATCTTGACAGTTTCTACAGACCTTCCTGGGTGAAAGTTCCTAAATCATGCCCTGCTTCCTCCAATAGGAGAATGGGAGCCTCACCTGTAGGACCTACAGGCTCTCTAAGGAATGCAGGTCTCTCTCTGAGCCTCCACAGCCAGGCAAATACATATATATATATTTTTTTTTTAGATGAAGTTTTTTCTCTTGTTGCCCAGGCTAGGGTGTAATGGCATGATCTCAGGTCACTGCAACCTCCTCCCGGGTTCAAGCATTTCTTCTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCACCTGCCATCACACGAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTGTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGTGCTGGGGTTACAGGCCTGAGCCACTGCGCCCGGCCCAGGCAAATTTCTTGAACCACTTCTCACTCCCGTCACTTTCAATAAGGGGTCTTTGATGTCTTCACTGGTTCTTTGGACGAGGGACTTTTCGAACTTTTTTGGTTGCAACACACAGTAAGAAATATACTTCACACTGAGACTTGCAGCGCACACACACGGAAACGACCAAAACAAAAATGTCACAAAACAATACTTACCCTTCCCTGGGGGACGTCCTCCAGTATGTTCTGTTCTGTTTATTTTTCACTGTTGGTTGCAATCCAATAAAATGACTTTGGGATCCACTCATGGGTGGGGACCCACACATTTGAAAGGCATGGCCACCTTTCTGTTGTGCCTTGCATTTGTCCACACACAGGGAGTCTGGCTGAGCTGGGGAAAGGCCACGGCTGGGTGTCATTGCCATTTTCCCAGCTCATCTCACCGGGAAGAAAAGCAGATTGACAGAACACGTGAGGAGGGGTATTGATGGCAGGAGAGTCAAAAAAGAGTTTTAAAGAAGGGGCAAGGTTGAAGGAGTCTAGTGGCAAGGGTAAGATTTCAGGCATGGTTAAGAACAGACGACAAGGATGTCAGGAATGAAGATGTGGAGAGGGGTGTAGAGATGGCAAGGTTGGCAAGGAACAGATAGGCAGGAGCAGGTCCAAGCCAAGCCTAGCCCAAGACCAGGTGAAAGGAGAGGGGAGGAGGAGCCACCTGCAAGAGATGGAAAGAGCAGGCGGCAGAGGGGGCTGGCAGGGAGGGGCTGTTAAGAGTGGGGTTGGAGGTGGGAGAGAAGCTAGGACAAGGGAGATGGAGAAAGGACCTATACCTGGCTCACGGAAGGCCTTCAGGTCACTACACGTTGAACATCCCCAGTGTTTGAGCCCCCAAAGCTAGGGTGCAAGAGCACTGCCATCGAATGCCAGTGGGTGAGGCCAAGTGAGGGTATTTGCAGCTCTAGACATAACCAAGAAGCGTAAAGGTGAGTTGTTTGGTGGTACGACTGCCTGTGCCTTCTTCCGATGGCACTGGGGTGGCTGAAGGAACAGACATCTTTGGGTTTCATCAGCCTCCTCCAAGACTGCTGCAGTGCCTACACTTTAGACTTCAGAAGGAGACTAAAGACTTCTAGAATTTAGAAGGAGATCTGAAGTCTCCTTTCTGGAGTTACAACCCAAAGGATGTTAGCATTTCTCAGGTCATCCCACTGCAAAGCCCAGAAGGCTTGGGGCTCCCAGGCTGCTC
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Task1_train_22747
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This genomic variant is located on Chromosome 16, within the RSPRY1 (ring finger and SPRY domain containing 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
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AGCCATTGCTGTCTTAATAGTGAAAACGTCTGTTGCCTCTCATTTCCTTTATCCTTTTCTTTCTCCTGTCTTGTTCCATCCCATTCCATTCTTTTCTCTCCCTTCCCTTTGCCTCCTCCCTCTTTATATATATTTTATTACATATGATTATATATATATATATATATATATATATATCTGAAGACTTTCTGTCTCCATTTTTCTCTTTTTCTTCTATGTTTTCCCTGTAGCAGTAATCAAACTGGGAAAATAAAAAGAATTTTGCCATGAATCTGTCTAAAATAATGGAAATAGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATAGCCTGAGGTCAGGAGTTTGTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAACTGGCTGGGTGTGGTGGCAGCACCTGTAGTCCCAGTTACTCGAGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCACTCCAGCCTGGGTGATAGAGCGAGACTCCTCAAAAATAAGTAAATAAATAAACAAATAAAATAATGGGAGTAATATTTCTCTTCTAATTCCACTGAATTATAAATTTTGTTTATATTATTCCTGGTCAGTGCTCAAGGTATGAGGAATTAATTGTAACTAGCCAGATGTTGTGTAGAGACTACACACTAGCATAGTCTATTCCTTATGTGGCCTGTTCTCCAGCTGTCAGCCTGTTTTGTTTGTTTGTTTGTTTTTTTACTTTTTGCTACCAGCCCATGTAAGTCTCCTATTTCTAAATCTTTACTTCCTTCCAGAATCTAACCAGATTTTACCAGCTTCTTGAAGAGCTGGTTCTTTCATTAGGTTTTTAATGATAAACATACTTTGTGGGATGAGAATGGCCATCCATGAATTCCTGGAGGGCAGGAACTATTCCTTACTCATCTTTATTCTCCTAGTCCAGCGTGGTACCTGGCACAAGGTCCTTAGTCAGTATTTTCAGGCAAAGATAAATTGGTGCATCTTATTCTGAACTTTGTAATAGACATGTGCAACAAACTGATCATTGTGAAAATACAACTTTTGTGATATCAGTTTTCCTTTCCCAAAACAAAGCCTTGCTTACATAACAGAAACACTTTGCAACAACTTGTATGAATTCTGTCAGTTCTTGAGTGAGCTTCCAATGGGAAACTCTATCCTTTTATTCTCCTTGATATCAAATGGTGCTATCATATTTGTATCATAACTTTTTTTTAACAACAAACGTCTGTAATTATTTTATTTAAAACTTGTTAAATTATCCTATGGGTTTAAAGAAAGGAGTTAATTCATTTTTTTAAAGATTTTTCTCTTTTTAACACCTACCTCTTACACAGAAAGACAACTCTTTTTTTATGATAAAAGGAGCCCTTGAAAAAAAATGCACACATCCTTCTAATGTATTTCTATATAGACAGGAAAAACTATACATGTGGTTTTAAAAAAATCAATGATAACTCCTCTGGTCTATAAGAATATGGTTTGGCAATCAACTTTGTAACAGAATGATAAAAAGAAATTATTGATTGATTGCGAATTCTGTTATCCAAAGCTATCTCTTTGTATTGGAAACCTATAAAAATAACCAAAGATAATTCTTCATTAGAATCCTAATATCTATAAAATCAGACTAGGAAAATTTGAGTAATTAAGTGGTCAAGAATCTTTTATTCATTTTCCTTTTTCTCATTTTCTTTTAGAACTGCCATTGGATGTCCAGAATCCCCTGTAGTTGATAATGTTGGGAATAAGCTCTGCAACTTTCTTTGGCATTCAGTTGTTAAAAACAAATAGGATGCAAATTCCTCAACTCCAGGTTATGAAAACAGTACTTGGAAAACTGAAAACTACCTAAATGATCGTCTTTGGTTGGGCCGTGTTCTTAGCGAGCAGAAGCCTTGGCCAGGGTCTGTTGTTGACTCTCGAAGAGCACATAGCCCACTTCCTAGGGACTGGAGGTGCCGCTACTACCATGGGTAATTCCTGTATCTGCCGAGATGACAGTGGAACAGATGACAGTGTTGACACCCAACAGCAACAGGCCGAGAACAGTGCAGTACCCACTGCTGACACAAGGAGCCAACCACGGGACCCTGTTCGGCCACCAAGGAGGGGCCGAGGACCTCATGAGCCAAGGAGAAAGAAACAAAATGTGGATGGGCTAGTGTTGGACACACTGGCAGTAATACGGACTCTTGTAGATAAGTAAGTATCTGACTCACGGTCACCTCCAGTGGAATGAAAAGTGTTCTGCCCGGAACCATGACTTTAGGACTCCTTCAGTTCCTTTAGGACATACTCGCCAAGCCTTGTGCTCACAGGGCAAAGGAGAATATTTTAATGCTCCGCTGATGGCAGAGTAAATGATAAGATTTGATGTTTTTGCTTGCTGTCATCTACTTTGTCTGGAAATGTCTAAATGTTTCTGTAGCAGAAAACACGATAAAGCTATGATCTTTATTAGAGAATAGAGTAAATATGGAGTGAGTTTATGTTGCTAGCTACAATAGGAAATGGTTTCATGAAGGCTCACTGTTAATGGTACATGCCTGTCTATTCCACTGACCTCAGATTCAAGGTAAGTTGTTTTACCAAGAACATGGCTACAGGCAACTTCTCTTGGCAACATAAGGACTAAGGTCAAGGAGAGTTTTCATTATCCTTTATTTGATCCTTTATCCCTTATTTGACTATCTTTAATCCATTTAGGAAGCTTGTCAGTTGATACTGCAAGGCACACCTGTACCTGTTTTGTCTTTTCCTCTGCTTTGTCTACCTCTAAATACAAAATCATAGATTGAATAACAGTGAAATTAAAGGGCATCCAAGTAGAAAAAAACATTTAACTTAAGGTTGTATATTTCAGTAGTTAAGAGCACAAAGCTTAGAACCATGATGGGCCTAGCTCAAGTTCTGGCCCAGTGCCTTACTAACTGCATGACATTGGGTAAGTTACTTCTTGAAGCCTCAGATTCCTCATCTGTAAATGGGGGGATAATATTGTTCCCACAAGGATTATCATGAGATAATGTACATAAGGCATTCAGTGTGGAGCTTTGTACTTAACAGTTGCTCAGTAGATGGTAGTATTTTTTAAAAAGTTACTTATGTGTTCTTTTTGCTTCAGGCCCTGCTAGTAAATTTAAGTATATAAACATTTGATAATCGCATTTATAGAAACCCAGTTTCGTTTAGTTCCTCAAAAATTAAGCATAAAACAGAGTGTACCTGTGAATACAAACGAATTTTTAGAGCTGTATTAAACTTTTCCATAAAATACTGGAGCATTTGTTAGTCTTCGAGAAGAATAATTTTTTGGCCAGACACAATGGCTCATACCTGTAATTCCAACACTTTTGAGAGGCTGAGGTAGAAAGATAGCTGGAGGCCAGGAGTTCAAGACCAGCCTAGGCAACATAGGGAGATCCCATCTCTGCAAAAAAAATTTAAAAATTATCCAGGTACAGTGGCACTTGCCTGTGATCCCAGCTACTCAGGATTCTAAGACCGGAGTACTGCTAGAGTCCAGGAGTTTCCAGCTGCAGTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCAATAGAGCAAGACCCTGTCTCAAAAATTAATTAATCAAAAAAAATTTTTTAAATCCCTTGTACCAAATTGTAATAAAAGTTATCCTTCCCAAATAAGGAAGTAAACCACAAACAATGTTAATTTAAGCTCATTGGAAAAATGGGTGCAGAATAGACTTTGAGAGAGAGAGTTTTTTTGTTTTGTTTTGTTTTTAAAGAGACAGGGTCTCACTTTGTCACCCAGGCTGGCGTACAGTGGCGTGATCATGACTCACTGCAGCCTCAGCCTCCTGGACTCAAACCATCCTCCCACCTCAGCCTCCTAAGTAGCTTGGACTACAGGCGTGTGCTACTGCACCTGGCTAATTTTTAAAAAAGTTTTTGTAGAGCCAGGTCTTGCCATGTTGCCCAGGCTGGTCTCAAATACCTGGACTCAAGCGATTGTCGAGCTTCAGCCTCCTTA
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AGCCATTGCTGTCTTAATAGTGAAAACGTCTGTTGCCTCTCATTTCCTTTATCCTTTTCTTTCTCCTGTCTTGTTCCATCCCATTCCATTCTTTTCTCTCCCTTCCCTTTGCCTCCTCCCTCTTTATATATATTTTATTACATATGATTATATATATATATATATATATATATATATCTGAAGACTTTCTGTCTCCATTTTTCTCTTTTTCTTCTATGTTTTCCCTGTAGCAGTAATCAAACTGGGAAAATAAAAAGAATTTTGCCATGAATCTGTCTAAAATAATGGAAATAGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATAGCCTGAGGTCAGGAGTTTGTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAACTGGCTGGGTGTGGTGGCAGCACCTGTAGTCCCAGTTACTCGAGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCACTCCAGCCTGGGTGATAGAGCGAGACTCCTCAAAAATAAGTAAATAAATAAACAAATAAAATAATGGGAGTAATATTTCTCTTCTAATTCCACTGAATTATAAATTTTGTTTATATTATTCCTGGTCAGTGCTCAAGGTATGAGGAATTAATTGTAACTAGCCAGATGTTGTGTAGAGACTACACACTAGCATAGTCTATTCCTTATGTGGCCTGTTCTCCAGCTGTCAGCCTGTTTTGTTTGTTTGTTTGTTTTTTTACTTTTTGCTACCAGCCCATGTAAGTCTCCTATTTCTAAATCTTTACTTCCTTCCAGAATCTAACCAGATTTTACCAGCTTCTTGAAGAGCTGGTTCTTTCATTAGGTTTTTAATGATAAACATACTTTGTGGGATGAGAATGGCCATCCATGAATTCCTGGAGGGCAGGAACTATTCCTTACTCATCTTTATTCTCCTAGTCCAGCGTGGTACCTGGCACAAGGTCCTTAGTCAGTATTTTCAGGCAAAGATAAATTGGTGCATCTTATTCTGAACTTTGTAATAGACATGTGCAACAAACTGATCATTGTGAAAATACAACTTTTGTGATATCAGTTTTCCTTTCCCAAAACAAAGCCTTGCTTACATAACAGAAACACTTTGCAACAACTTGTATGAATTCTGTCAGTTCTTGAGTGAGCTTCCAATGGGAAACTCTATCCTTTTATTCTCCTTGATATCAAATGGTGCTATCATATTTGTATCATAACTTTTTTTTAACAACAAACGTCTGTAATTATTTTATTTAAAACTTGTTAAATTATCCTATGGGTTTAAAGAAAGGAGTTAATTCATTTTTTTAAAGATTTTTCTCTTTTTAACACCTACCTCTTACACAGAAAGACAACTCTTTTTTTATGATAAAAGGAGCCCTTGAAAAAAAATGCACACATCCTTCTAATGTATTTCTATATAGACAGGAAAAACTATACATGTGGTTTTAAAAAAATCAATGATAACTCCTCTGGTCTATAAGAATATGGTTTGGCAATCAACTTTGTAACAGAATGATAAAAAGAAATTATTGATTGATTGCGAATTCTGTTATCCAAAGCTATCTCTTTGTATTGGAAACCTATAAAAATAACCAAAGATAATTCTTCATTAGAATCCTAATATCTATAAAATCAGACTAGGAAAATTTGAGTAATTAAGTGGTCAAGAATCTTTTATTCATTTTCCTTTTTCTCATTTTCTTTTAGAACTGCCATTGGATGTCCAGAATCCCCTGTAGTTGATAATGTTGGGAATAAGCTCTGCAACTTTCTTTGGCATTCAGTTGTTAAAAACAAATAGGATGCAAATTCCTCAACTCCAGGTTATGAAAACAGTACTTGGAAAACTGAAAACTACCTAAATGATCGTCTTTGGTTGGGCCGTGTTCTTAGCGAGCAGAAGCCTTGGCCAGGGTCTGTTGTTGACTCTCGAAGAGCACATAGCCCACTTCCTAGGGACTGGAGGTGCCGCTACTACCATGTGTAATTCCTGTATCTGCCGAGATGACAGTGGAACAGATGACAGTGTTGACACCCAACAGCAACAGGCCGAGAACAGTGCAGTACCCACTGCTGACACAAGGAGCCAACCACGGGACCCTGTTCGGCCACCAAGGAGGGGCCGAGGACCTCATGAGCCAAGGAGAAAGAAACAAAATGTGGATGGGCTAGTGTTGGACACACTGGCAGTAATACGGACTCTTGTAGATAAGTAAGTATCTGACTCACGGTCACCTCCAGTGGAATGAAAAGTGTTCTGCCCGGAACCATGACTTTAGGACTCCTTCAGTTCCTTTAGGACATACTCGCCAAGCCTTGTGCTCACAGGGCAAAGGAGAATATTTTAATGCTCCGCTGATGGCAGAGTAAATGATAAGATTTGATGTTTTTGCTTGCTGTCATCTACTTTGTCTGGAAATGTCTAAATGTTTCTGTAGCAGAAAACACGATAAAGCTATGATCTTTATTAGAGAATAGAGTAAATATGGAGTGAGTTTATGTTGCTAGCTACAATAGGAAATGGTTTCATGAAGGCTCACTGTTAATGGTACATGCCTGTCTATTCCACTGACCTCAGATTCAAGGTAAGTTGTTTTACCAAGAACATGGCTACAGGCAACTTCTCTTGGCAACATAAGGACTAAGGTCAAGGAGAGTTTTCATTATCCTTTATTTGATCCTTTATCCCTTATTTGACTATCTTTAATCCATTTAGGAAGCTTGTCAGTTGATACTGCAAGGCACACCTGTACCTGTTTTGTCTTTTCCTCTGCTTTGTCTACCTCTAAATACAAAATCATAGATTGAATAACAGTGAAATTAAAGGGCATCCAAGTAGAAAAAAACATTTAACTTAAGGTTGTATATTTCAGTAGTTAAGAGCACAAAGCTTAGAACCATGATGGGCCTAGCTCAAGTTCTGGCCCAGTGCCTTACTAACTGCATGACATTGGGTAAGTTACTTCTTGAAGCCTCAGATTCCTCATCTGTAAATGGGGGGATAATATTGTTCCCACAAGGATTATCATGAGATAATGTACATAAGGCATTCAGTGTGGAGCTTTGTACTTAACAGTTGCTCAGTAGATGGTAGTATTTTTTAAAAAGTTACTTATGTGTTCTTTTTGCTTCAGGCCCTGCTAGTAAATTTAAGTATATAAACATTTGATAATCGCATTTATAGAAACCCAGTTTCGTTTAGTTCCTCAAAAATTAAGCATAAAACAGAGTGTACCTGTGAATACAAACGAATTTTTAGAGCTGTATTAAACTTTTCCATAAAATACTGGAGCATTTGTTAGTCTTCGAGAAGAATAATTTTTTGGCCAGACACAATGGCTCATACCTGTAATTCCAACACTTTTGAGAGGCTGAGGTAGAAAGATAGCTGGAGGCCAGGAGTTCAAGACCAGCCTAGGCAACATAGGGAGATCCCATCTCTGCAAAAAAAATTTAAAAATTATCCAGGTACAGTGGCACTTGCCTGTGATCCCAGCTACTCAGGATTCTAAGACCGGAGTACTGCTAGAGTCCAGGAGTTTCCAGCTGCAGTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCAATAGAGCAAGACCCTGTCTCAAAAATTAATTAATCAAAAAAAATTTTTTAAATCCCTTGTACCAAATTGTAATAAAAGTTATCCTTCCCAAATAAGGAAGTAAACCACAAACAATGTTAATTTAAGCTCATTGGAAAAATGGGTGCAGAATAGACTTTGAGAGAGAGAGTTTTTTTGTTTTGTTTTGTTTTTAAAGAGACAGGGTCTCACTTTGTCACCCAGGCTGGCGTACAGTGGCGTGATCATGACTCACTGCAGCCTCAGCCTCCTGGACTCAAACCATCCTCCCACCTCAGCCTCCTAAGTAGCTTGGACTACAGGCGTGTGCTACTGCACCTGGCTAATTTTTAAAAAAGTTTTTGTAGAGCCAGGTCTTGCCATGTTGCCCAGGCTGGTCTCAAATACCTGGACTCAAGCGATTGTCGAGCTTCAGCCTCCTTA
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Task1_train_22748
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A variant on Chromosome 16 in gene RSPRY1 (ring finger and SPRY domain containing 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
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TTAGGAATGCAAGGATGGTACAATTACAGAAATCTTAGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGCCAGGAGTTTGAGACCAGCCTGGCCAAGACAGTGAAACCCCGTCTCTACTACAAATACAAAAAAAATTACCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAAAGAATTGCTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCACTGCACTCCAGCCCAGGCAAAGGCAGGTTTTTTTGAGATGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTACAGTGGTGTGATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCATGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTTGGATTACAGGCGCATGCCACCAGGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGCTCGAACTCCTGACCTAAAGTAATCCACCTGCCTTGGCCTCCGAAAAGTTCTGGGATTACAGGCATGAGTCACCATGCCCAGCCTACAATATAGAAATCTTTAATATAATTACTCAAATAGGCCAGAGGCAGGAGAGGGGCAGTTATCACTTCAAGAATGCTGAGAAAGCATTTGTTAAAATTCAATATCCATTCCTAATGGATGAAATACTACAAAACAGAAATGAATGGACTAAAACAATATAAAATAGGAATGGATGGATACTTCCATAACAATACAAAAAACACATATATTTCAGCCAAATGCTAGTATCTCTTTATTTTTTTATTTTTATTTATTTATTTATTTTTATTTATTTATTTATTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCCGAGCTCAAGTGATTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACCAGTGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAGCTAGCATCTTTTTAATGGTGACACATAGGAAGCATTTCAAGAGATGTTGGGAATAAGATAAGGATGCCTACTGTCACCACTATGACTTACAAAATACACAAAAATCAGTAGCTCTTCTAGCTATATGTATAATAGCAGCCAGTTAGAACATATAATTGAAGATCCCTTTTACCATGGTTAAAAAAAAAAGTGCTATCTAAGAATACATAGCAAGAAATATGTAGAGCGTATATGAAGAAAACTTTTAAACTACCAAAGAGTATAACAGAAGACTTAAATAAATGAGTCTCTTCTTGGATAGGAGGACCTCTCAGTATTGTAAAGGTGACAGTTTTCTCTAAACTCTAAGTTTAATTTGCTCAACATAAAAAGAGCAACATGATTTTTTTCTGGAACTTGACATGCTGATTTAAAAGTTTAAGGCAAGAAAATTCTGAAAGTTAGGGAGATGACAACCATACCACATCTTAAAATACATTAAAATAAATGTTAATAGTTTGGTCCCATTACTATATGACAAGAATGGCAGAATAATGGAATACAATAAAAGCCCAGAAATAGAACTAACTAAAAATGAAAATTTACCATATGACAAAGGCATTGTGTCAAAACTGTGGTGAAAGATGGACTGTTTGGTAAATGATTCTGGGATAAATGGCTAGCTTTCTGGGGAGAAATATTATATCCCTACCTATAAGTGCACATCTGTAAGTATATGCTGTGCACATATAGAGTGTCTGAAAGAATGCATATGAACTTTTTACTTGTTCCACAGACTAAGACAATTGAGGATCAGAAATGTAAGATTTACTTTTTATTTACATATTCATTTTTTTTAAACCATGTATAATTAGTAACCCTTTCAATGAACAAACTTGTTAACATTTTTGATTTAGTTGGCAGGCAGTTGGAGTTTGACCTTTTGAAGCATTAACTTGACTGACTTTTCTGTGTTTCTCCCCAGTGACCTGTGCATGGATTGTGCCTTGCAGCTGGAGACCTGCCCATTGTGTCGTAAAGAAATAGTATCTAGAATCAGACAGATTTCTCATATTTCATGACACATGTGAAGAGGCATCGTGGACTTTTTTCTACTCAATTCCAGCCAATGTTGAAAAGAAAAAGAAAAAAAAAACTCTCTAATCAGTTGTACACACATTGAAACTTATAGCCATGGCCAGATTTTATGCTAAAAATGGTAGTTTGTCAAAGACAAAATTCTCTTAGAATCTAATCCAACTTGCCAGCCCTGAGAAAATCCCTTTTAAGGCCAAGGAAAGCTGAATGCTAGCAGCCAGGCCTGTGGTACTTCCATGAGAAACCATAGCAGACAATGCCCTCCCAAGTACTGAAATCACACTGGAATCCCCCTTGTTGGGTTCATTTGATTGTTTAACACAGGATGTGTTGTGTCATTCTGAAGTTTTTATTTGGGGCAGAAGTCTTTATGGAGATGTAAATGACAGCGTTTCTGGGTTATGCATAACTTCTCACTGGTCAGAGACACCGGTGTGTCAAGCATGGATATTGCATTGCAAGACTTGAATCTATAAAAATTAGAATCACACAGTCAGTACTACAAGCAAAACAGAGAACCTGAAAGAAGGTGCACAGACTGTAAGAAAAAACCCAAGTTTGTGATATTTCAGTGATTCCAAAGAACATTCTAGGTTTTTTGTTTGTTTTTTTGTTTTTTGGGTTTTTTTTTTTTACTGCAGAAAATTGGTGGTATTTTCACATTCATAGTGTTTCTATCCAATTTCAGTACCCACATTTAATGAGGAAAAAATGTTTTACCAATGAAGGAGGAATTCTTAAATTAGCTGTAATGTTAGGTTGGAGAAAATTTGGTATTTAGGGTATTTTCAAGGTACCATCAAATCAGATTTCTGTTTTTTTGTTAAAAAAAATTTTTTTAATCAGTATTGTTTTTACAAGTAATATACTTTGAAACTCTTGAACTAATAGTCTCAAAAACTCTAGAGGACAGTCTGAGAACACGTATTTCTATTGTTCTAAATAAATACATGTTTTTGAATAGTTCAATCATGAATTATTGACTATGTCTTCATCAAAAGTGTTAATCCCTCTCAGGGTCTCTGGTGAAGACCTTCAAGAGTTTGGTTTTTTCTCCCAGGAAATTGGAAGGTAGAATTGTAAATTCATAGAACTTCTTTTATAATGGTGTACCTCAGCAGCTGCCTTTCAATTTATGCCAAGTCCTTACAGAGTTTATACTTGAATAGTAAATATGTCTTCTGAGTTTTACAGTGTCTTAAACTCAATGCACATTTTTTTTTCTTCTTTTTCCACCCCTTCTTGTTTGTAGTTCATTATACCTGTCCTATTACAGAACTGATTTCCTTCCTGGCTGTACATGTTGGGGTGCTGGATTTTTTTCCGTGTCTTTAGTCTTCCATAAATCCACACACACACACACACACAAAAAATATATATATATATAAATATATATGTAGGATACATGTTCTCTTCTTTAGCTTGTGGTGAATACAGTAATTTGCATTGAAGAATAAAACATCTGTTGCCTTTTTTGACTAAGATTTCACAACTTTCATTGGTGTATACTGCTAAGGTTCCAAGACATTATACTCTCAGACTTTAAGGGCTACTTTTGGGAGTAGGAGAGAATCAAGTATTAGAATTAAGAATAAGGCCACTTACTCATCCAGCAGATTGTTATTGAGCACCTAATATGTGCTGGGCACTGTGCCTATGTGGCATACAAAATATGCTTGTAGAGCTTATGTCTAATAAGCTTGTCTAATTATTGTCTATTATTATGTCTAACAGTAATTTGGAAGTGGTCCAGCTGAGACTAAAGGTAGTCTGTACATTTAGTAGAGAGAGGGAAAAATAGATGGAATTAATAGATAATTTGCGAGGCAAAGGAATGCAGGAGCCTAACAGCTTTCTAAAAATCTACCCTTGAAGTTTGTTCCTAAGGTGGGGAGAAGACAATATATTTGTGTTTATTGTAACAGATTTTTAGTGGAAAAGAATAGGGTCCT
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TTAGGAATGCAAGGATGGTACAATTACAGAAATCTTAGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGCCAGGAGTTTGAGACCAGCCTGGCCAAGACAGTGAAACCCCGTCTCTACTACAAATACAAAAAAAATTACCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAAAGAATTGCTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCCACTGCACTCCAGCCCAGGCAAAGGCAGGTTTTTTTGAGATGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTACAGTGGTGTGATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCATGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTTGGATTACAGGCGCATGCCACCAGGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGCTCGAACTCCTGACCTAAAGTAATCCACCTGCCTTGGCCTCCGAAAAGTTCTGGGATTACAGGCATGAGTCACCATGCCCAGCCTACAATATAGAAATCTTTAATATAATTACTCAAATAGGCCAGAGGCAGGAGAGGGGCAGTTATCACTTCAAGAATGCTGAGAAAGCATTTGTTAAAATTCAATATCCATTCCTAATGGATGAAATACTACAAAACAGAAATGAATGGACTAAAACAATATAAAATAGGAATGGATGGATACTTCCATAACAATACAAAAAACACATATATTTCAGCCAAATGCTAGTATCTCTTTATTTTTTTATTTTTATTTATTTATTTATTTTTATTTATTTATTTATTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCCGAGCTCAAGTGATTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACCAGTGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAGCTAGCATCTTTTTAATGGTGACACATAGGAAGCATTTCAAGAGATGTTGGGAATAAGATAAGGATGCCTACTGTCACCACTATGACTTACAAAATACACAAAAATCAGTAGCTCTTCTAGCTATATGTATAATAGCAGCCAGTTAGAACATATAATTGAAGATCCCTTTTACCATGGTTAAAAAAAAAAGTGCTATCTAAGAATACATAGCAAGAAATATGTAGAGCGTATATGAAGAAAACTTTTAAACTACCAAAGAGTATAACAGAAGACTTAAATAAATGAGTCTCTTCTTGGATAGGAGGACCTCTCAGTATTGTAAAGGTGACAGTTTTCTCTAAACTCTAAGTTTAATTTGCTCAACATAAAAAGAGCAACATGATTTTTTTCTGGAACTTGACATGCTGATTTAAAAGTTTAAGGCAAGAAAATTCTGAAAGTTAGGGAGATGACAACCATACCACATCTTAAAATACATTAAAATAAATGTTAATAGTTTGGTCCCATTACTATATGACAAGAATGGCAGAATAATGGAATACAATAAAAGCCCAGAAATAGAACTAACTAAAAATGAAAATTTACCATATGACAAAGGCATTGTGTCAAAACTGTGGTGAAAGATGGACTGTTTGGTAAATGATTCTGGGATAAATGGCTAGCTTTCTGGGGAGAAATATTATATCCCTACCTATAAGTGCACATCTGTAAGTATATGCTGTGCACATATAGAGTGTCTGAAAGAATGCATATGAACTTTTTACTTGTTCCACAGACTAAGACAATTGAGGATCAGAAATGTAAGATTTACTTTTTATTTACATATTCATTTTTTTTAAACCATGTATAATTAGTAACCCTTTCAATGAACAAACTTGTTAACATTTTTGATTTAGTTGGCAGGCAGTTGGAGTTTGACCTTTTGAAGCATTAACTTGACTGACTTTTCTGTGTTTCTCCCCAGTGACCTGTGCATGGATTATGCCTTGCAGCTGGAGACCTGCCCATTGTGTCGTAAAGAAATAGTATCTAGAATCAGACAGATTTCTCATATTTCATGACACATGTGAAGAGGCATCGTGGACTTTTTTCTACTCAATTCCAGCCAATGTTGAAAAGAAAAAGAAAAAAAAAACTCTCTAATCAGTTGTACACACATTGAAACTTATAGCCATGGCCAGATTTTATGCTAAAAATGGTAGTTTGTCAAAGACAAAATTCTCTTAGAATCTAATCCAACTTGCCAGCCCTGAGAAAATCCCTTTTAAGGCCAAGGAAAGCTGAATGCTAGCAGCCAGGCCTGTGGTACTTCCATGAGAAACCATAGCAGACAATGCCCTCCCAAGTACTGAAATCACACTGGAATCCCCCTTGTTGGGTTCATTTGATTGTTTAACACAGGATGTGTTGTGTCATTCTGAAGTTTTTATTTGGGGCAGAAGTCTTTATGGAGATGTAAATGACAGCGTTTCTGGGTTATGCATAACTTCTCACTGGTCAGAGACACCGGTGTGTCAAGCATGGATATTGCATTGCAAGACTTGAATCTATAAAAATTAGAATCACACAGTCAGTACTACAAGCAAAACAGAGAACCTGAAAGAAGGTGCACAGACTGTAAGAAAAAACCCAAGTTTGTGATATTTCAGTGATTCCAAAGAACATTCTAGGTTTTTTGTTTGTTTTTTTGTTTTTTGGGTTTTTTTTTTTTACTGCAGAAAATTGGTGGTATTTTCACATTCATAGTGTTTCTATCCAATTTCAGTACCCACATTTAATGAGGAAAAAATGTTTTACCAATGAAGGAGGAATTCTTAAATTAGCTGTAATGTTAGGTTGGAGAAAATTTGGTATTTAGGGTATTTTCAAGGTACCATCAAATCAGATTTCTGTTTTTTTGTTAAAAAAAATTTTTTTAATCAGTATTGTTTTTACAAGTAATATACTTTGAAACTCTTGAACTAATAGTCTCAAAAACTCTAGAGGACAGTCTGAGAACACGTATTTCTATTGTTCTAAATAAATACATGTTTTTGAATAGTTCAATCATGAATTATTGACTATGTCTTCATCAAAAGTGTTAATCCCTCTCAGGGTCTCTGGTGAAGACCTTCAAGAGTTTGGTTTTTTCTCCCAGGAAATTGGAAGGTAGAATTGTAAATTCATAGAACTTCTTTTATAATGGTGTACCTCAGCAGCTGCCTTTCAATTTATGCCAAGTCCTTACAGAGTTTATACTTGAATAGTAAATATGTCTTCTGAGTTTTACAGTGTCTTAAACTCAATGCACATTTTTTTTTCTTCTTTTTCCACCCCTTCTTGTTTGTAGTTCATTATACCTGTCCTATTACAGAACTGATTTCCTTCCTGGCTGTACATGTTGGGGTGCTGGATTTTTTTCCGTGTCTTTAGTCTTCCATAAATCCACACACACACACACACACAAAAAATATATATATATATAAATATATATGTAGGATACATGTTCTCTTCTTTAGCTTGTGGTGAATACAGTAATTTGCATTGAAGAATAAAACATCTGTTGCCTTTTTTGACTAAGATTTCACAACTTTCATTGGTGTATACTGCTAAGGTTCCAAGACATTATACTCTCAGACTTTAAGGGCTACTTTTGGGAGTAGGAGAGAATCAAGTATTAGAATTAAGAATAAGGCCACTTACTCATCCAGCAGATTGTTATTGAGCACCTAATATGTGCTGGGCACTGTGCCTATGTGGCATACAAAATATGCTTGTAGAGCTTATGTCTAATAAGCTTGTCTAATTATTGTCTATTATTATGTCTAACAGTAATTTGGAAGTGGTCCAGCTGAGACTAAAGGTAGTCTGTACATTTAGTAGAGAGAGGGAAAAATAGATGGAATTAATAGATAATTTGCGAGGCAAAGGAATGCAGGAGCCTAACAGCTTTCTAAAAATCTACCCTTGAAGTTTGTTCCTAAGGTGGGGAGAAGACAATATATTTGTGTTTATTGTAACAGATTTTTAGTGGAAAAGAATAGGGTCCT
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Task1_train_22749
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A variant was discovered in gene COQ9, LOC112469007 (coenzyme Q9| Sharpr-MPRA regulatory region 5957), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
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AAAACATAAAATTAACTAACTGAAGCTCTTGTGCACATACATGTCACTGCCTGGCCTCTGGGTGACCAGTACCAAGTGGGCCTAACCAGCCTGCTGTGCAATCCAAGTCAGCCATTGCCCCTCTCTGGGCCTCAGTTTCCCTGCCAGCTTTAGCAGAATGGTAGGAAGGCACAATTACAACCTGCAAATGAGACCTAAGAAACCTACTATGTGCCTGTCCCTACACGGGAGACAGACAAGAAGACACTTGTTCCCTGCCCTCAAGAGAACGCTCTGTCTAGACACTTAGACTAAGACCTTAGAGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGCAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCGACTCCGGGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCACCCACCACCACACCCAGCTAATTTTTGTATTCTTTGTAGAGATGCGGTTTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAAGTGATCCACACGCCGCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCTGGCCCAGAATTTTTTTTAAAAAGTGAGAATCAACAATGAAACAGGAACGTCTCCAGGCATTTGGCGTGTGTCAGGAATTAGGGTTTCAGAAAGGATACCCAAATGTTAGTTTCCACAGGAAAGGCTCATTCAAAGATGGATGGATAGAACTCAGAAACAAATCCTTATGGAGAGGAGTGTTTTACCTAAAACCAGAAATATGGATCTAAAATTTTAACCTTTGGGGTAAGTTTTGGCTTAGGAGGTCTTCCCCGCACCCGTGCAGGGGGGAGCCGGATATTCTGAAAAGACTAGATTTGACAAGGGGTGTGCAAAGCACAACTTTAACAGACACAATGATGGGGTCTGACTGCAAACACAAAATCGACAGAATCACATGCTCTTGTCGTCAGTTACTCTTAGCCCAAAAACCGTTTACTTCTTCCTACTAAGCCTTCTCTGATGACACCCCCGTGAAGTGCTCTGTTAGTGGCTAGACCGTGACCTCCTTGAGCCATCCAGAGCTTGGCACTCAGTAATGTCAGAATGAAGGGCACCAGCCTTTCCCGAACTTGCAGATCCTACAAATCACCCGAGGGAGTGGTTAAAATGAGATTCCTGGACCACACCCAGACCCACTCAATCAATCCTTCTGGACAAAGGCCTAGCTGTCTGTTCTAGTAACAAGCATCCTTCCGATCTGGATACTTAATTATATCAACTCAACACGCTGGGGGTTCGGACAAGTTGCAGGTTCGAAATTACAATCGTGAGCTCAGGTACCCCCCGACTCCAAGGCTTTCGTGCTTTGCTGCCAGGAACCCCCAGGGACCAAAACGTCACGGGGACTGAGGCCCAAGGTCACAACGATTGGCTACTGGTAGGACCGGGTCTCAGAACCAGGTCTCCCCGATCCCAAGCTCGGAGCCGTTTCTCCTCAGCGTGGTGTCCCCGGGGCCTCAGAGTAGGGCCGGCTGCGCAAGGGACGAGGCAGCCGGGGAACGGCAGAAATTCCCAGTCAGGACCCCAGGGAGGTTAGGGCCGGCCCTGGCCCCTCACACCGACTTCTCAGGAATAAACCAGCCGGGGCTTTCAGCGGGGCGGCCGTGGCTGCGTTCCCATCGAGGAACGGGGTGGGAAGAGAAAATGAGAGGATGTGGGAACGAGGGTGGGCCGGGAGGGGACAGTTGAGGGAGCTCTGGCGCTCAGCTGGCCCCCACCACTCTCACCTGCCGCCTGGGCTCGCTCCCGGCTTCTCTCCAGCCGTCGACTCCACGCCTTGCGCCTCTCGCGAGAGGAGGAGGCTCCACGGAGCGACGACTTCCGCCCTCCTTAGGGCCGTGGTCCCGTAGCTACCGGTCGCGTCGCCGTGGGCGACGTGCCCGCTTCCAAAATGGCGGCGGCGGCGGTATCTGGTGCGCTTGGCCGGGCGGGCTGGAGGCTCCTGCAGCTGCGATGCCTGCCCGGTGAGGGGGCTGCCAAGCCGGGGAGAGGCGGGGAGCGCGGAGGGGGCGCGAGGCCGGCTTCAGCTGGGTTCGACGGTGGGGGGAAGAGGCCGTTGGGGCGGCCCACGAGCAAGGTGAGGTGAAGGGCATCGGCGCGGGCTCGGGCGAGCCGCCTGGCTAGCTTCGGCCCTGCTCCGCTGTCTGTGAGGGGCAGATGCAGCGGGGCAGGGCCTGTCACCCCCATTTCATGGAGTTGGCAGAGCCTCAGAGAGGGCTCGGGGTACGAAAGTCACGCAGCCTGAGCCTGTTGGTTACAGAACTGGCAGTCGCAGACCCATTCTCAAGTCCATTGCCAAGTCCACTGGAAGGACAGGTGGACACGGCCACAGAGAGCCTAGTCCATTGTTTCCCGAAAGCCAGCCGTTTCCTCACCACTTCACGAATTCTGTGATACTCTCTTACCACCTTTGCCACTATGTACTCAGTATTTTTATTTTTAAATAGGAGTTCTTAAAGAGGAAACTTTATATCATTGTCATAAATGGAAAACTAATATCGCCTTCCTTAATTAGAACGTATGCATTAACACTTTAGCATACATACATAACTGATGAAACGTTCACCTGTATTTCACCTAAAATCTTCTCATGACCCTCAGTGGTACTACAGTCATACTTTGCATCTGCTCCTTCCTTTTCAAAGTTTTGCGGATATTTGTGCCGTATCTTTCAGTACATGTATTAAAATATTGATATTTTGGCACATACTATTCTGTTTCTTTTTTTTCTTTTTTTTTTTTTTCTGAGACAGGGTCTGGCTCCTCAGCCTCCCAAGGAGCTGGGACTACAAGTGCGTGCCACCCTACTTGGCTTAATTTTGTTGTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAGCCTCTACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGGGGTTGTGCCACCATGCCCAGCTAATTTTTTATTTTTAGTAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCCAAAACTCCTGACCTCAAGTTATCTGCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCCACCGCCTAGCCCCCTTTTGTTGTATTTATACAAAATTCCAAACTAAAGATGTGTAGTAAAAGTAATGTCTATGACCCCGCAAATCCACCAAGAGAAATGAAGGTATGTGTCTACAAAAAAGTTAGTACAAGTATATTCATAGCAATTTTATTCATAGTAGCCAAACACAGAAACAGTCCAGTTGTCTAGCAACAGAATAGTATTTTTTTTATGGAATACTATTCTGCAATAAAAACTAAAAATCAGTCAAAGAGAAAGCTGGACACTAAAGTGATAAGGACCATTTTTAATCAGTAATAACTATTGCAATAGGGAAAAGAGTCTAGCATGAACGGAGCCCAACCTTGAGTTTAGAGCATGCAGAAGTCACTGGGTGTTTCAAAGAAAAAATGAGGGAGGAGGGAGGAAGGCAGGTGGGGACTCAGTAGAGTCAGGATAGTGAATAATTATAAATAAGATTGGTCTGCTAGCTGGCAGTTAACAAAGTTAGGATTCTGTTTTCCCACAGGGAGACAAGCCCTATCCTTCTTAAGTGTTAGCCTGAACAAACAGTAAAATTTTTTTTGACAGCCTTGAGTTTTCTCAGGCAGGCACTTTAAAGGGGGGTAGGGTTATCTTAAGGGATGTGGCCCTGAGTGATGCTTATGTTAGTGTGTGTTCAAGTCTTTATAGGCCAAGGTTGAGGCCTAGATAAGAAGAGGGCTCAGAGGAGCCTGGTTAGAGCCTGATCAAGGAGAGAATCTTTGCCAGATATACTGATAGGCATAAAAATATGGATCAATCTCAAAAATATACTAAGTGGTCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGGTTGCTTGAGCCGAGGAGTTCAAGACCATCTTGGGCAACATAGCAAGACTCTGTCTCTATTTAAAC
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AAAACATAAAATTAACTAACTGAAGCTCTTGTGCACATACATGTCACTGCCTGGCCTCTGGGTGACCAGTACCAAGTGGGCCTAACCAGCCTGCTGTGCAATCCAAGTCAGCCATTGCCCCTCTCTGGGCCTCAGTTTCCCTGCCAGCTTTAGCAGAATGGTAGGAAGGCACAATTACAACCTGCAAATGAGACCTAAGAAACCTACTATGTGCCTGTCCCTACACGGGAGACAGACAAGAAGACACTTGTTCCCTGCCCTCAAGAGAACGCTCTGTCTAGACACTTAGACTAAGACCTTAGAGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGCAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCGACTCCGGGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCACCCACCACCACACCCAGCTAATTTTTGTATTCTTTGTAGAGATGCGGTTTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAAGTGATCCACACGCCGCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCTGGCCCAGAATTTTTTTTAAAAAGTGAGAATCAACAATGAAACAGGAACGTCTCCAGGCATTTGGCGTGTGTCAGGAATTAGGGTTTCAGAAAGGATACCCAAATGTTAGTTTCCACAGGAAAGGCTCATTCAAAGATGGATGGATAGAACTCAGAAACAAATCCTTATGGAGAGGAGTGTTTTACCTAAAACCAGAAATATGGATCTAAAATTTTAACCTTTGGGGTAAGTTTTGGCTTAGGAGGTCTTCCCCGCACCCGTGCAGGGGGGAGCCGGATATTCTGAAAAGACTAGATTTGACAAGGGGTGTGCAAAGCACAACTTTAACAGACACAATGATGGGGTCTGACTGCAAACACAAAATCGACAGAATCACATGCTCTTGTCGTCAGTTACTCTTAGCCCAAAAACCGTTTACTTCTTCCTACTAAGCCTTCTCTGATGACACCCCCGTGAAGTGCTCTGTTAGTGGCTAGACCGTGACCTCCTTGAGCCATCCAGAGCTTGGCACTCAGTAATGTCAGAATGAAGGGCACCAGCCTTTCCCGAACTTGCAGATCCTACAAATCACCCGAGGGAGTGGTTAAAATGAGATTCCTGGACCACACCCAGACCCACTCAATCAATCCTTCTGGACAAAGGCCTAGCTGTCTGTTCTAGTAACAAGCATCCTTCCGATCTGGATACTTAATTATATCAACTCAACACGCTGGGGGTTCGGACAAGTTGCAGGTTCGAAATTACAATCGTGAGCTCAGGTACCCCCCGACTCCAAGGCTTTCGTGCTTTGCTGCCAGGAACCCCCAGGGACCAAAACGTCACGGGGACTGAGGCCCAAGGTCACAACGATTGGCTACTGGTAGGACCGGGTCTCAGAACCAGGTCTCCCCGATCCCAAGCTCGGAGCCGTTTCTCCTCAGCGTGGTGTCCCCGGGGCCTCAGAGTAGGGCCGGCTGCGCAAGGGACGAGGCAGCCGGGGAACGGCAGAAATTCCCAGTCAGGACCCCAGGGAGGTTAGGGCCGGCCCTGGCCCCTCACACCGACTTCTCAGGAATAAACCAGCCGGGGCTTTCAGCGGGGCGGCCGTGGCTGCGTTCCCATCGAGGAACGGGGTGGGAAGAGAAAATGAGAGGATGTGGGAACGAGGGTGGGCCGGGAGGGGACAGTTGAGGGAGCTCTGGCGCTCAGCTGGCCCCCACCACTCTCACCTGCCGCCTGGGCTCGCTCCCGGCTTCTCTCCAGCCGTCGACTCCACGCCTTGCGCCTCTCGCGAGAGGAGGAGGCTCCACGGAGCGACGACTTCCGCCCTCCTTAGGGCCGTGGTCCCGTAGCTACCGGTCGCGTCGCCGTGGGCGACGTGCCCGCTTCCAAAATGGCGGCGGCGGCGGTATCTGGTGCGCTTGGCCGGGCGGGCTGGAGGCTCCTGCAGCTGCGATGCCTGCCCAGTGAGGGGGCTGCCAAGCCGGGGAGAGGCGGGGAGCGCGGAGGGGGCGCGAGGCCGGCTTCAGCTGGGTTCGACGGTGGGGGGAAGAGGCCGTTGGGGCGGCCCACGAGCAAGGTGAGGTGAAGGGCATCGGCGCGGGCTCGGGCGAGCCGCCTGGCTAGCTTCGGCCCTGCTCCGCTGTCTGTGAGGGGCAGATGCAGCGGGGCAGGGCCTGTCACCCCCATTTCATGGAGTTGGCAGAGCCTCAGAGAGGGCTCGGGGTACGAAAGTCACGCAGCCTGAGCCTGTTGGTTACAGAACTGGCAGTCGCAGACCCATTCTCAAGTCCATTGCCAAGTCCACTGGAAGGACAGGTGGACACGGCCACAGAGAGCCTAGTCCATTGTTTCCCGAAAGCCAGCCGTTTCCTCACCACTTCACGAATTCTGTGATACTCTCTTACCACCTTTGCCACTATGTACTCAGTATTTTTATTTTTAAATAGGAGTTCTTAAAGAGGAAACTTTATATCATTGTCATAAATGGAAAACTAATATCGCCTTCCTTAATTAGAACGTATGCATTAACACTTTAGCATACATACATAACTGATGAAACGTTCACCTGTATTTCACCTAAAATCTTCTCATGACCCTCAGTGGTACTACAGTCATACTTTGCATCTGCTCCTTCCTTTTCAAAGTTTTGCGGATATTTGTGCCGTATCTTTCAGTACATGTATTAAAATATTGATATTTTGGCACATACTATTCTGTTTCTTTTTTTTCTTTTTTTTTTTTTTCTGAGACAGGGTCTGGCTCCTCAGCCTCCCAAGGAGCTGGGACTACAAGTGCGTGCCACCCTACTTGGCTTAATTTTGTTGTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAGCCTCTACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGGGGTTGTGCCACCATGCCCAGCTAATTTTTTATTTTTAGTAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCCAAAACTCCTGACCTCAAGTTATCTGCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCCACCGCCTAGCCCCCTTTTGTTGTATTTATACAAAATTCCAAACTAAAGATGTGTAGTAAAAGTAATGTCTATGACCCCGCAAATCCACCAAGAGAAATGAAGGTATGTGTCTACAAAAAAGTTAGTACAAGTATATTCATAGCAATTTTATTCATAGTAGCCAAACACAGAAACAGTCCAGTTGTCTAGCAACAGAATAGTATTTTTTTTATGGAATACTATTCTGCAATAAAAACTAAAAATCAGTCAAAGAGAAAGCTGGACACTAAAGTGATAAGGACCATTTTTAATCAGTAATAACTATTGCAATAGGGAAAAGAGTCTAGCATGAACGGAGCCCAACCTTGAGTTTAGAGCATGCAGAAGTCACTGGGTGTTTCAAAGAAAAAATGAGGGAGGAGGGAGGAAGGCAGGTGGGGACTCAGTAGAGTCAGGATAGTGAATAATTATAAATAAGATTGGTCTGCTAGCTGGCAGTTAACAAAGTTAGGATTCTGTTTTCCCACAGGGAGACAAGCCCTATCCTTCTTAAGTGTTAGCCTGAACAAACAGTAAAATTTTTTTTGACAGCCTTGAGTTTTCTCAGGCAGGCACTTTAAAGGGGGGTAGGGTTATCTTAAGGGATGTGGCCCTGAGTGATGCTTATGTTAGTGTGTGTTCAAGTCTTTATAGGCCAAGGTTGAGGCCTAGATAAGAAGAGGGCTCAGAGGAGCCTGGTTAGAGCCTGATCAAGGAGAGAATCTTTGCCAGATATACTGATAGGCATAAAAATATGGATCAATCTCAAAAATATACTAAGTGGTCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGGTTGCTTGAGCCGAGGAGTTCAAGACCATCTTGGGCAACATAGCAAGACTCTGTCTCTATTTAAAC
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Task1_train_22750
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Given this variant in gene ADGRG1 (adhesion G protein-coupled receptor G1) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; not provided
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GGTCATGATAGGAAGCGCCCTTCCCCTCTGGCTCCTGTAGAGGGCGTCGCGGATGCATTGATCCTTTAGTTCCTTCACTGTCCATCCCCACAGCCTTTATCCAGCAACCTCTGTACAGCCAGGGCCTGCCCACAGAGATGGATCAGGTGCTCCCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTAGAACCCTCATGCCAGATTCTAGATAAGATAATCCCGTCACTCTGGGTTCAGGAGGGAGGTACTACGATTAGCCCGATTTTGAGTGACTTACACAAGGTCCTGCAGCGGGCAAAAGGTGGAACTGAGACTGGAACTCAGCTGGACTCTGGACAGCCACTCCCCCGCCTTTTTTTTTTTAAAGCAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAGTTATAGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGTGATCCTTCCACCTCAGCCTCCCTAGTAGCTGGGACCACAGGCATACACCGCCATGCCTGGCTAATTTTGTTTATTTATTGTAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCTGAATTCCTGTGCTCAAGCGATCCTCCTTTCTCAGCCTCCCAAAGCGCTGGGATTACAGACATAAGTCACCACGCCTGGCCTCACTGCCTCTTGGGGAGCGGCCTCTGGCCGCTCTGGGGAGGTCCATGGGCTTTTTCCACACTTGCTTCCCCACCTCACCTCCCACATCCATGCCACACTGGCCTCCTCTTCTGCAGGGCCAGCCCAACCACCACACAGTCCACACTCCCAGCTAACACTCCTGGTCTCTTCCAGGTGGTGACTTCCAAGAGTGACTCCGTCGGAGGAAAATGACTCCCCAGTCGCTGCTGCAGACGACACTGTTCCTGCTGAGTCTGCTCTTCCTGGTCCAAGGCAGGTCTTCCCAGGGGTGCCCTGGGCTGTTGGAACTTACGTTAAAATGCCCCTGTGCCTAGGGTGGCTGCCAGCACACATGCTAACTCCTTTAGGCAGTTACAGCTCGGCTAGTGGAGGGTACCTTGGAGAAAAGCAAAAGACACTCCTTCCTTCTGGCAGGTGCAGCCCTGCAGTGCACAGCTTAGGGTATGGAATATGGATGGGGTACTGGCCCCACTCACCTCTGCAGCCAGAGCATTCTTGTGCAGTGTACCACCTGCACAACCGTCTATGTCAGCCATGGCCTCATTAAATACTTCATTGCTGTTAAAAATATGTTTTCCCCTTGAAATTACTATTCGTTTTCAGTTTCCTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAGTTTCCTCTTTTTATAGTTTGATGCTGATAAGTTTTGAGTGGGAAAGACTAACACATTTTTGTAGACCCTTGGAATGTGTGTGAATCTCAGGCTCCAGGTTCACATGTACTCAGCCTAGGTCCTGTCCCCTTCCATGCCTCTGGTCAGCCCCTGCCACGGGGTCCCATCTGCAGCCTCTGCCTCCTCAGGTGCCCACGGCAGGGGCCACAGGGAAGACTTTCGCTTCTGCAGCCAGCGGAACCAGACACACAGGAGCAGCCTCCACTACAAACCCACACCAGACCTGCGCATCTCCATCGAGAACTCCGAAGAGGCCCTCACAGTCCATGCCCCTTTCCCTGCAGCCCACCCTGCTTCCCGATCCTTCCCTGACCCCAGGGGCCTCTACCACTTCTGCCTCTACTGGAACCGACATGCTGGGAGATTACATCTTCTCTATGGCAAGCGTGACTTCTTGCTGAGTGACAAAGCCTCTAGCCTCCTCTGCTTCCAGCACCAGGAGGAGAGCCTGGCTCAGGGCCCCCCGCTGTTAGCCACTTCTGTCACCTCCTGGTGGAGCCCTCAGAACATCAGCCTGCCCAGTGCCGCCAGCTTCACCTTCTCCTTCCACAGTAAGGCAACTTCCAGGCGGAGGGAACAACTGGGCAGTGGTCTAGAGGCAGGGAAGGCAAAATGCAAAGTGGACTGGGCTCACAATATCAGATCATGAAGACTGGGCTTTGCTCACAGGCACTGGGGAGCCAGTGAAGGTGTCTGAGGAGGGGAGGAGTGTAATCCAAGTGCTAGGATTACAGGCATGAACCACTGCGCTCGGCCCCACTGTCCCTTGATGGTTACTTTGTGGGCAGGCAGGGGTGAGGATGGAAGGGCAAGGGCCCGTCCTGAGGCTGCAGAGAAGGTCTTGGTGAAGGAGGATGAGGTCTGAATAGGGTGAGAGAGCAGAGACTGGAAAGGGACTGAAGATCAAGAGCCCCAGGAAGAATTCTTCCTCAGCATCAGTGTAGACTGTTTATTTCCTTTCACAGAGGAGGAAACTGGGGCACAGAGAGGATGCCCAAAGCTGCACAGCTAGCCAATGGGAGAGCCAGGATTTGAACCCAGCAGCTGATTGGAGTGGGGTAGGGGTGAGGGGCGGAGTATGAGAGGTCAAAGGTCAGGAAAGCAGTGGGGTTGACTCTGAGGTCCAGAAGCTGCATCTTCCCCCTTGAGTGTGACAGGTACATGTGGCCACTGCCATTCAGCACCATTAAATGCTGAATGGTGGCCAGGAAGGGAGGAGCATCAGAAGGAGCTTGAAGGTTTACTGGGGGGTTTTCATGTCTTTCCAGCACCTCAAGTTTGAGGCAGGGCTTTCAGGGGTGGGGGGCACAGCACTTTGATTGTGTCAGTGTAACAGGCTAATGATTATGTCCAGTGCAACAGGCAGGCCCAGGCCCGTCAGTGGTGGGGGGTTCCCCACACCCCAGGCTGGGATTCTGCCCCGCAACCTGGGAGGATTTAGGGCAAAGTTGATCCTAGTTGCAAATTGGCATTCTGAAGACCAGACTGAACTTGGTCTTGTTTGGCCTGTAGAGGGTTTTTAAAAAACATGGACCAGGGATTTCAAATCACCTAAAACCCAGGCTTTCTCGGTTATGCATTCAAAAGATGGAGCTACCCAGGGCCTGCCTTCCTCAGTGGCACAGAAAGTATACCCTCCAACCCCCACTGTTTGTCTTCCTCATCTGAGTCCCAGCTAATCCCTGGAGACACCTTAGTCGGCCGCCTTAGTAGGCCGCCCACGCTACCTGGGCAGAGGGGCCCGAGCCTGGAGTCAGGGAGGCTGGTGGGTGTGGAGTCCCAGGAACCACCACCAAGCCCCGCACATCCCTCCTAAGGAGGCCTGGCTGGGCCCTCTCTGCTCCGTGTGTGTAGCCGAAGGTGTCTGCGGAGGGTGCTGAGCAAGGCACATCCCACCCCATCCCGCTGGGGCTGGCATTGCTGGCGGGTTCTGTAAGACACAACCCCCACGGGTTGGCCTCATCTGAGTGGCCTTGGCAGAGTCCACTCTGCTTCTTGAAGCCTCAGTTTCCCCTTTGTAAAGTAAAGATCGAGGCATTCAGAGTCATGTCAGGGTGGTAGGGGGCAGAATGGGAGGGTCCTGGGACCTGAATCGGCAGCCTCGGCGGGGGCCTGTCCACCCCTCCCCCAGGTCCTCCCCACACGGCCGCTCACAATGCCTCGGTGGACATGTGCGAGCTCAAAAGGGACCTCCAGCTGCTCAGCCAGTTCCTGAAGCATCCCC
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GGTCATGATAGGAAGCGCCCTTCCCCTCTGGCTCCTGTAGAGGGCGTCGCGGATGCATTGATCCTTTAGTTCCTTCACTGTCCATCCCCACAGCCTTTATCCAGCAACCTCTGTACAGCCAGGGCCTGCCCACAGAGATGGATCAGGTGCTCCCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTAGAACCCTCATGCCAGATTCTAGATAAGATAATCCCGTCACTCTGGGTTCAGGAGGGAGGTACTACGATTAGCCCGATTTTGAGTGACTTACACAAGGTCCTGCAGCGGGCAAAAGGTGGAACTGAGACTGGAACTCAGCTGGACTCTGGACAGCCACTCCCCCGCCTTTTTTTTTTTAAAGCAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAGTTATAGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGTGATCCTTCCACCTCAGCCTCCCTAGTAGCTGGGACCACAGGCATACACCGCCATGCCTGGCTAATTTTGTTTATTTATTGTAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCTGAATTCCTGTGCTCAAGCGATCCTCCTTTCTCAGCCTCCCAAAGCGCTGGGATTACAGACATAAGTCACCACGCCTGGCCTCACTGCCTCTTGGGGAGCGGCCTCTGGCCGCTCTGGGGAGGTCCATGGGCTTTTTCCACACTTGCTTCCCCACCTCACCTCCCACATCCATGCCACACTGGCCTCCTCTTCTGCAGGGCCAGCCCAACCACCACACAGTCCACACTCCCAGCTAACACTCCTGGTCTCTTCCAGGTGGTGACTTCCAAGAGTGACTCCGTCGGAGGAAAATGACTCCCCAGTCGCTGCTGCAGACGACACTGTTCCTGCTGAGTCTGCTCTTCCTGGTCCAAGGCAGGTCTTCCCAGGGGTGCCCTGGGCTGTTGGAACTTACGTTAAAATGCCCCTGTGCCTAGGGTGGCTGCCAGCACACATGCTAACTCCTTTAGGCAGTTACAGCTCGGCTAGTGGAGGGTACCTTGGAGAAAAGCAAAAGACACTCCTTCCTTCTGGCAGGTGCAGCCCTGCAGTGCACAGCTTAGGGTATGGAATATGGATGGGGTACTGGCCCCACTCACCTCTGCAGCCAGAGCATTCTTGTGCAGTGTACCACCTGCACAACCGTCTATGTCAGCCATGGCCTCATTAAATACTTCATTGCTGTTAAAAATATGTTTTCCCCTTGAAATTACTATTCGTTTTCAGTTTCCTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAGTTTCCTCTTTTTATAGTTTGATGCTGATAAGTTTTGAGTGGGAAAGACTAACACATTTTTGTAGACCCTTGGAATGTGTGTGAATCTCAGGCTCCAGGTTCACATGTACTCAGCCTAGGTCCTGTCCCCTTCCATGCCTCTGGTCAGCCCCTGCCACGGGGTCCCATCTGCAGCCTCTGCCTCCTCAGGTGCCCACGGCAGGGGCCACAGGGAAGACTTTCGCTTCTGCAGCCAGCAGAACCAGACACACAGGAGCAGCCTCCACTACAAACCCACACCAGACCTGCGCATCTCCATCGAGAACTCCGAAGAGGCCCTCACAGTCCATGCCCCTTTCCCTGCAGCCCACCCTGCTTCCCGATCCTTCCCTGACCCCAGGGGCCTCTACCACTTCTGCCTCTACTGGAACCGACATGCTGGGAGATTACATCTTCTCTATGGCAAGCGTGACTTCTTGCTGAGTGACAAAGCCTCTAGCCTCCTCTGCTTCCAGCACCAGGAGGAGAGCCTGGCTCAGGGCCCCCCGCTGTTAGCCACTTCTGTCACCTCCTGGTGGAGCCCTCAGAACATCAGCCTGCCCAGTGCCGCCAGCTTCACCTTCTCCTTCCACAGTAAGGCAACTTCCAGGCGGAGGGAACAACTGGGCAGTGGTCTAGAGGCAGGGAAGGCAAAATGCAAAGTGGACTGGGCTCACAATATCAGATCATGAAGACTGGGCTTTGCTCACAGGCACTGGGGAGCCAGTGAAGGTGTCTGAGGAGGGGAGGAGTGTAATCCAAGTGCTAGGATTACAGGCATGAACCACTGCGCTCGGCCCCACTGTCCCTTGATGGTTACTTTGTGGGCAGGCAGGGGTGAGGATGGAAGGGCAAGGGCCCGTCCTGAGGCTGCAGAGAAGGTCTTGGTGAAGGAGGATGAGGTCTGAATAGGGTGAGAGAGCAGAGACTGGAAAGGGACTGAAGATCAAGAGCCCCAGGAAGAATTCTTCCTCAGCATCAGTGTAGACTGTTTATTTCCTTTCACAGAGGAGGAAACTGGGGCACAGAGAGGATGCCCAAAGCTGCACAGCTAGCCAATGGGAGAGCCAGGATTTGAACCCAGCAGCTGATTGGAGTGGGGTAGGGGTGAGGGGCGGAGTATGAGAGGTCAAAGGTCAGGAAAGCAGTGGGGTTGACTCTGAGGTCCAGAAGCTGCATCTTCCCCCTTGAGTGTGACAGGTACATGTGGCCACTGCCATTCAGCACCATTAAATGCTGAATGGTGGCCAGGAAGGGAGGAGCATCAGAAGGAGCTTGAAGGTTTACTGGGGGGTTTTCATGTCTTTCCAGCACCTCAAGTTTGAGGCAGGGCTTTCAGGGGTGGGGGGCACAGCACTTTGATTGTGTCAGTGTAACAGGCTAATGATTATGTCCAGTGCAACAGGCAGGCCCAGGCCCGTCAGTGGTGGGGGGTTCCCCACACCCCAGGCTGGGATTCTGCCCCGCAACCTGGGAGGATTTAGGGCAAAGTTGATCCTAGTTGCAAATTGGCATTCTGAAGACCAGACTGAACTTGGTCTTGTTTGGCCTGTAGAGGGTTTTTAAAAAACATGGACCAGGGATTTCAAATCACCTAAAACCCAGGCTTTCTCGGTTATGCATTCAAAAGATGGAGCTACCCAGGGCCTGCCTTCCTCAGTGGCACAGAAAGTATACCCTCCAACCCCCACTGTTTGTCTTCCTCATCTGAGTCCCAGCTAATCCCTGGAGACACCTTAGTCGGCCGCCTTAGTAGGCCGCCCACGCTACCTGGGCAGAGGGGCCCGAGCCTGGAGTCAGGGAGGCTGGTGGGTGTGGAGTCCCAGGAACCACCACCAAGCCCCGCACATCCCTCCTAAGGAGGCCTGGCTGGGCCCTCTCTGCTCCGTGTGTGTAGCCGAAGGTGTCTGCGGAGGGTGCTGAGCAAGGCACATCCCACCCCATCCCGCTGGGGCTGGCATTGCTGGCGGGTTCTGTAAGACACAACCCCCACGGGTTGGCCTCATCTGAGTGGCCTTGGCAGAGTCCACTCTGCTTCTTGAAGCCTCAGTTTCCCCTTTGTAAAGTAAAGATCGAGGCATTCAGAGTCATGTCAGGGTGGTAGGGGGCAGAATGGGAGGGTCCTGGGACCTGAATCGGCAGCCTCGGCGGGGGCCTGTCCACCCCTCCCCCAGGTCCTCCCCACACGGCCGCTCACAATGCCTCGGTGGACATGTGCGAGCTCAAAAGGGACCTCCAGCTGCTCAGCCAGTTCCTGAAGCATCCCC
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Task1_train_22751
|
This alteration occurs within gene ADGRG1 (adhesion G protein-coupled receptor G1) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
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Pathogenic; Bilateral frontoparietal polymicrogyria
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TCCCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTAGAACCCTCATGCCAGATTCTAGATAAGATAATCCCGTCACTCTGGGTTCAGGAGGGAGGTACTACGATTAGCCCGATTTTGAGTGACTTACACAAGGTCCTGCAGCGGGCAAAAGGTGGAACTGAGACTGGAACTCAGCTGGACTCTGGACAGCCACTCCCCCGCCTTTTTTTTTTTAAAGCAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAGTTATAGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGTGATCCTTCCACCTCAGCCTCCCTAGTAGCTGGGACCACAGGCATACACCGCCATGCCTGGCTAATTTTGTTTATTTATTGTAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCTGAATTCCTGTGCTCAAGCGATCCTCCTTTCTCAGCCTCCCAAAGCGCTGGGATTACAGACATAAGTCACCACGCCTGGCCTCACTGCCTCTTGGGGAGCGGCCTCTGGCCGCTCTGGGGAGGTCCATGGGCTTTTTCCACACTTGCTTCCCCACCTCACCTCCCACATCCATGCCACACTGGCCTCCTCTTCTGCAGGGCCAGCCCAACCACCACACAGTCCACACTCCCAGCTAACACTCCTGGTCTCTTCCAGGTGGTGACTTCCAAGAGTGACTCCGTCGGAGGAAAATGACTCCCCAGTCGCTGCTGCAGACGACACTGTTCCTGCTGAGTCTGCTCTTCCTGGTCCAAGGCAGGTCTTCCCAGGGGTGCCCTGGGCTGTTGGAACTTACGTTAAAATGCCCCTGTGCCTAGGGTGGCTGCCAGCACACATGCTAACTCCTTTAGGCAGTTACAGCTCGGCTAGTGGAGGGTACCTTGGAGAAAAGCAAAAGACACTCCTTCCTTCTGGCAGGTGCAGCCCTGCAGTGCACAGCTTAGGGTATGGAATATGGATGGGGTACTGGCCCCACTCACCTCTGCAGCCAGAGCATTCTTGTGCAGTGTACCACCTGCACAACCGTCTATGTCAGCCATGGCCTCATTAAATACTTCATTGCTGTTAAAAATATGTTTTCCCCTTGAAATTACTATTCGTTTTCAGTTTCCTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAGTTTCCTCTTTTTATAGTTTGATGCTGATAAGTTTTGAGTGGGAAAGACTAACACATTTTTGTAGACCCTTGGAATGTGTGTGAATCTCAGGCTCCAGGTTCACATGTACTCAGCCTAGGTCCTGTCCCCTTCCATGCCTCTGGTCAGCCCCTGCCACGGGGTCCCATCTGCAGCCTCTGCCTCCTCAGGTGCCCACGGCAGGGGCCACAGGGAAGACTTTCGCTTCTGCAGCCAGCGGAACCAGACACACAGGAGCAGCCTCCACTACAAACCCACACCAGACCTGCGCATCTCCATCGAGAACTCCGAAGAGGCCCTCACAGTCCATGCCCCTTTCCCTGCAGCCCACCCTGCTTCCCGATCCTTCCCTGACCCCAGGGGCCTCTACCACTTCTGCCTCTACTGGAACCGACATGCTGGGAGATTACATCTTCTCTATGGCAAGCGTGACTTCTTGCTGAGTGACAAAGCCTCTAGCCTCCTCTGCTTCCAGCACCAGGAGGAGAGCCTGGCTCAGGGCCCCCCGCTGTTAGCCACTTCTGTCACCTCCTGGTGGAGCCCTCAGAACATCAGCCTGCCCAGTGCCGCCAGCTTCACCTTCTCCTTCCACAGTAAGGCAACTTCCAGGCGGAGGGAACAACTGGGCAGTGGTCTAGAGGCAGGGAAGGCAAAATGCAAAGTGGACTGGGCTCACAATATCAGATCATGAAGACTGGGCTTTGCTCACAGGCACTGGGGAGCCAGTGAAGGTGTCTGAGGAGGGGAGGAGTGTAATCCAAGTGCTAGGATTACAGGCATGAACCACTGCGCTCGGCCCCACTGTCCCTTGATGGTTACTTTGTGGGCAGGCAGGGGTGAGGATGGAAGGGCAAGGGCCCGTCCTGAGGCTGCAGAGAAGGTCTTGGTGAAGGAGGATGAGGTCTGAATAGGGTGAGAGAGCAGAGACTGGAAAGGGACTGAAGATCAAGAGCCCCAGGAAGAATTCTTCCTCAGCATCAGTGTAGACTGTTTATTTCCTTTCACAGAGGAGGAAACTGGGGCACAGAGAGGATGCCCAAAGCTGCACAGCTAGCCAATGGGAGAGCCAGGATTTGAACCCAGCAGCTGATTGGAGTGGGGTAGGGGTGAGGGGCGGAGTATGAGAGGTCAAAGGTCAGGAAAGCAGTGGGGTTGACTCTGAGGTCCAGAAGCTGCATCTTCCCCCTTGAGTGTGACAGGTACATGTGGCCACTGCCATTCAGCACCATTAAATGCTGAATGGTGGCCAGGAAGGGAGGAGCATCAGAAGGAGCTTGAAGGTTTACTGGGGGGTTTTCATGTCTTTCCAGCACCTCAAGTTTGAGGCAGGGCTTTCAGGGGTGGGGGGCACAGCACTTTGATTGTGTCAGTGTAACAGGCTAATGATTATGTCCAGTGCAACAGGCAGGCCCAGGCCCGTCAGTGGTGGGGGGTTCCCCACACCCCAGGCTGGGATTCTGCCCCGCAACCTGGGAGGATTTAGGGCAAAGTTGATCCTAGTTGCAAATTGGCATTCTGAAGACCAGACTGAACTTGGTCTTGTTTGGCCTGTAGAGGGTTTTTAAAAAACATGGACCAGGGATTTCAAATCACCTAAAACCCAGGCTTTCTCGGTTATGCATTCAAAAGATGGAGCTACCCAGGGCCTGCCTTCCTCAGTGGCACAGAAAGTATACCCTCCAACCCCCACTGTTTGTCTTCCTCATCTGAGTCCCAGCTAATCCCTGGAGACACCTTAGTCGGCCGCCTTAGTAGGCCGCCCACGCTACCTGGGCAGAGGGGCCCGAGCCTGGAGTCAGGGAGGCTGGTGGGTGTGGAGTCCCAGGAACCACCACCAAGCCCCGCACATCCCTCCTAAGGAGGCCTGGCTGGGCCCTCTCTGCTCCGTGTGTGTAGCCGAAGGTGTCTGCGGAGGGTGCTGAGCAAGGCACATCCCACCCCATCCCGCTGGGGCTGGCATTGCTGGCGGGTTCTGTAAGACACAACCCCCACGGGTTGGCCTCATCTGAGTGGCCTTGGCAGAGTCCACTCTGCTTCTTGAAGCCTCAGTTTCCCCTTTGTAAAGTAAAGATCGAGGCATTCAGAGTCATGTCAGGGTGGTAGGGGGCAGAATGGGAGGGTCCTGGGACCTGAATCGGCAGCCTCGGCGGGGGCCTGTCCACCCCTCCCCCAGGTCCTCCCCACACGGCCGCTCACAATGCCTCGGTGGACATGTGCGAGCTCAAAAGGGACCTCCAGCTGCTCAGCCAGTTCCTGAAGCATCCCCAGAAGGCCTCAAGGAGGCCCTCGGCTGCCCCCGCCAGCCAGTAAGTTTGGCACCTGGGGCTGTGAGGGGAGGCAGGAAGGCATCAGAGATCTGGACCTGGGCAGGGTGGGACCTGGAGTAGGGGCTACTGCGAGGCCTTCCCTGGGACTG
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TCCCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTAGAACCCTCATGCCAGATTCTAGATAAGATAATCCCGTCACTCTGGGTTCAGGAGGGAGGTACTACGATTAGCCCGATTTTGAGTGACTTACACAAGGTCCTGCAGCGGGCAAAAGGTGGAACTGAGACTGGAACTCAGCTGGACTCTGGACAGCCACTCCCCCGCCTTTTTTTTTTTAAAGCAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAGTTATAGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGTGATCCTTCCACCTCAGCCTCCCTAGTAGCTGGGACCACAGGCATACACCGCCATGCCTGGCTAATTTTGTTTATTTATTGTAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCTGAATTCCTGTGCTCAAGCGATCCTCCTTTCTCAGCCTCCCAAAGCGCTGGGATTACAGACATAAGTCACCACGCCTGGCCTCACTGCCTCTTGGGGAGCGGCCTCTGGCCGCTCTGGGGAGGTCCATGGGCTTTTTCCACACTTGCTTCCCCACCTCACCTCCCACATCCATGCCACACTGGCCTCCTCTTCTGCAGGGCCAGCCCAACCACCACACAGTCCACACTCCCAGCTAACACTCCTGGTCTCTTCCAGGTGGTGACTTCCAAGAGTGACTCCGTCGGAGGAAAATGACTCCCCAGTCGCTGCTGCAGACGACACTGTTCCTGCTGAGTCTGCTCTTCCTGGTCCAAGGCAGGTCTTCCCAGGGGTGCCCTGGGCTGTTGGAACTTACGTTAAAATGCCCCTGTGCCTAGGGTGGCTGCCAGCACACATGCTAACTCCTTTAGGCAGTTACAGCTCGGCTAGTGGAGGGTACCTTGGAGAAAAGCAAAAGACACTCCTTCCTTCTGGCAGGTGCAGCCCTGCAGTGCACAGCTTAGGGTATGGAATATGGATGGGGTACTGGCCCCACTCACCTCTGCAGCCAGAGCATTCTTGTGCAGTGTACCACCTGCACAACCGTCTATGTCAGCCATGGCCTCATTAAATACTTCATTGCTGTTAAAAATATGTTTTCCCCTTGAAATTACTATTCGTTTTCAGTTTCCTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAGTTTCCTCTTTTTATAGTTTGATGCTGATAAGTTTTGAGTGGGAAAGACTAACACATTTTTGTAGACCCTTGGAATGTGTGTGAATCTCAGGCTCCAGGTTCACATGTACTCAGCCTAGGTCCTGTCCCCTTCCATGCCTCTGGTCAGCCCCTGCCACGGGGTCCCATCTGCAGCCTCTGCCTCCTCAGGTGCCCACGGCAGGGGCCACAGGGAAGACTTTCGCTTCTGCAGCCAGCGGAACCAGACACACAGGAGCAGCCTCCACTACAAACCCACACCAGACCTGCGCATCTCCATCGAGAACTCCGAAGAGGCCCTCACAGTCCATGCCCCTTTCCCTGCAGCCCACCCTGCTTCCCGATCCTTCCCTGACCCCAGGGGCCTCTGCCACTTCTGCCTCTACTGGAACCGACATGCTGGGAGATTACATCTTCTCTATGGCAAGCGTGACTTCTTGCTGAGTGACAAAGCCTCTAGCCTCCTCTGCTTCCAGCACCAGGAGGAGAGCCTGGCTCAGGGCCCCCCGCTGTTAGCCACTTCTGTCACCTCCTGGTGGAGCCCTCAGAACATCAGCCTGCCCAGTGCCGCCAGCTTCACCTTCTCCTTCCACAGTAAGGCAACTTCCAGGCGGAGGGAACAACTGGGCAGTGGTCTAGAGGCAGGGAAGGCAAAATGCAAAGTGGACTGGGCTCACAATATCAGATCATGAAGACTGGGCTTTGCTCACAGGCACTGGGGAGCCAGTGAAGGTGTCTGAGGAGGGGAGGAGTGTAATCCAAGTGCTAGGATTACAGGCATGAACCACTGCGCTCGGCCCCACTGTCCCTTGATGGTTACTTTGTGGGCAGGCAGGGGTGAGGATGGAAGGGCAAGGGCCCGTCCTGAGGCTGCAGAGAAGGTCTTGGTGAAGGAGGATGAGGTCTGAATAGGGTGAGAGAGCAGAGACTGGAAAGGGACTGAAGATCAAGAGCCCCAGGAAGAATTCTTCCTCAGCATCAGTGTAGACTGTTTATTTCCTTTCACAGAGGAGGAAACTGGGGCACAGAGAGGATGCCCAAAGCTGCACAGCTAGCCAATGGGAGAGCCAGGATTTGAACCCAGCAGCTGATTGGAGTGGGGTAGGGGTGAGGGGCGGAGTATGAGAGGTCAAAGGTCAGGAAAGCAGTGGGGTTGACTCTGAGGTCCAGAAGCTGCATCTTCCCCCTTGAGTGTGACAGGTACATGTGGCCACTGCCATTCAGCACCATTAAATGCTGAATGGTGGCCAGGAAGGGAGGAGCATCAGAAGGAGCTTGAAGGTTTACTGGGGGGTTTTCATGTCTTTCCAGCACCTCAAGTTTGAGGCAGGGCTTTCAGGGGTGGGGGGCACAGCACTTTGATTGTGTCAGTGTAACAGGCTAATGATTATGTCCAGTGCAACAGGCAGGCCCAGGCCCGTCAGTGGTGGGGGGTTCCCCACACCCCAGGCTGGGATTCTGCCCCGCAACCTGGGAGGATTTAGGGCAAAGTTGATCCTAGTTGCAAATTGGCATTCTGAAGACCAGACTGAACTTGGTCTTGTTTGGCCTGTAGAGGGTTTTTAAAAAACATGGACCAGGGATTTCAAATCACCTAAAACCCAGGCTTTCTCGGTTATGCATTCAAAAGATGGAGCTACCCAGGGCCTGCCTTCCTCAGTGGCACAGAAAGTATACCCTCCAACCCCCACTGTTTGTCTTCCTCATCTGAGTCCCAGCTAATCCCTGGAGACACCTTAGTCGGCCGCCTTAGTAGGCCGCCCACGCTACCTGGGCAGAGGGGCCCGAGCCTGGAGTCAGGGAGGCTGGTGGGTGTGGAGTCCCAGGAACCACCACCAAGCCCCGCACATCCCTCCTAAGGAGGCCTGGCTGGGCCCTCTCTGCTCCGTGTGTGTAGCCGAAGGTGTCTGCGGAGGGTGCTGAGCAAGGCACATCCCACCCCATCCCGCTGGGGCTGGCATTGCTGGCGGGTTCTGTAAGACACAACCCCCACGGGTTGGCCTCATCTGAGTGGCCTTGGCAGAGTCCACTCTGCTTCTTGAAGCCTCAGTTTCCCCTTTGTAAAGTAAAGATCGAGGCATTCAGAGTCATGTCAGGGTGGTAGGGGGCAGAATGGGAGGGTCCTGGGACCTGAATCGGCAGCCTCGGCGGGGGCCTGTCCACCCCTCCCCCAGGTCCTCCCCACACGGCCGCTCACAATGCCTCGGTGGACATGTGCGAGCTCAAAAGGGACCTCCAGCTGCTCAGCCAGTTCCTGAAGCATCCCCAGAAGGCCTCAAGGAGGCCCTCGGCTGCCCCCGCCAGCCAGTAAGTTTGGCACCTGGGGCTGTGAGGGGAGGCAGGAAGGCATCAGAGATCTGGACCTGGGCAGGGTGGGACCTGGAGTAGGGGCTACTGCGAGGCCTTCCCTGGGACTG
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Task1_train_22752
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Consider a variant on Chromosome 16 in gene ADGRG1 (adhesion G protein-coupled receptor G1). Determine its clinical classification and disease relevance.
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Pathogenic; Bilateral frontoparietal polymicrogyria
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CCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTAGAACCCTCATGCCAGATTCTAGATAAGATAATCCCGTCACTCTGGGTTCAGGAGGGAGGTACTACGATTAGCCCGATTTTGAGTGACTTACACAAGGTCCTGCAGCGGGCAAAAGGTGGAACTGAGACTGGAACTCAGCTGGACTCTGGACAGCCACTCCCCCGCCTTTTTTTTTTTAAAGCAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAGTTATAGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGTGATCCTTCCACCTCAGCCTCCCTAGTAGCTGGGACCACAGGCATACACCGCCATGCCTGGCTAATTTTGTTTATTTATTGTAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCTGAATTCCTGTGCTCAAGCGATCCTCCTTTCTCAGCCTCCCAAAGCGCTGGGATTACAGACATAAGTCACCACGCCTGGCCTCACTGCCTCTTGGGGAGCGGCCTCTGGCCGCTCTGGGGAGGTCCATGGGCTTTTTCCACACTTGCTTCCCCACCTCACCTCCCACATCCATGCCACACTGGCCTCCTCTTCTGCAGGGCCAGCCCAACCACCACACAGTCCACACTCCCAGCTAACACTCCTGGTCTCTTCCAGGTGGTGACTTCCAAGAGTGACTCCGTCGGAGGAAAATGACTCCCCAGTCGCTGCTGCAGACGACACTGTTCCTGCTGAGTCTGCTCTTCCTGGTCCAAGGCAGGTCTTCCCAGGGGTGCCCTGGGCTGTTGGAACTTACGTTAAAATGCCCCTGTGCCTAGGGTGGCTGCCAGCACACATGCTAACTCCTTTAGGCAGTTACAGCTCGGCTAGTGGAGGGTACCTTGGAGAAAAGCAAAAGACACTCCTTCCTTCTGGCAGGTGCAGCCCTGCAGTGCACAGCTTAGGGTATGGAATATGGATGGGGTACTGGCCCCACTCACCTCTGCAGCCAGAGCATTCTTGTGCAGTGTACCACCTGCACAACCGTCTATGTCAGCCATGGCCTCATTAAATACTTCATTGCTGTTAAAAATATGTTTTCCCCTTGAAATTACTATTCGTTTTCAGTTTCCTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAGTTTCCTCTTTTTATAGTTTGATGCTGATAAGTTTTGAGTGGGAAAGACTAACACATTTTTGTAGACCCTTGGAATGTGTGTGAATCTCAGGCTCCAGGTTCACATGTACTCAGCCTAGGTCCTGTCCCCTTCCATGCCTCTGGTCAGCCCCTGCCACGGGGTCCCATCTGCAGCCTCTGCCTCCTCAGGTGCCCACGGCAGGGGCCACAGGGAAGACTTTCGCTTCTGCAGCCAGCGGAACCAGACACACAGGAGCAGCCTCCACTACAAACCCACACCAGACCTGCGCATCTCCATCGAGAACTCCGAAGAGGCCCTCACAGTCCATGCCCCTTTCCCTGCAGCCCACCCTGCTTCCCGATCCTTCCCTGACCCCAGGGGCCTCTACCACTTCTGCCTCTACTGGAACCGACATGCTGGGAGATTACATCTTCTCTATGGCAAGCGTGACTTCTTGCTGAGTGACAAAGCCTCTAGCCTCCTCTGCTTCCAGCACCAGGAGGAGAGCCTGGCTCAGGGCCCCCCGCTGTTAGCCACTTCTGTCACCTCCTGGTGGAGCCCTCAGAACATCAGCCTGCCCAGTGCCGCCAGCTTCACCTTCTCCTTCCACAGTAAGGCAACTTCCAGGCGGAGGGAACAACTGGGCAGTGGTCTAGAGGCAGGGAAGGCAAAATGCAAAGTGGACTGGGCTCACAATATCAGATCATGAAGACTGGGCTTTGCTCACAGGCACTGGGGAGCCAGTGAAGGTGTCTGAGGAGGGGAGGAGTGTAATCCAAGTGCTAGGATTACAGGCATGAACCACTGCGCTCGGCCCCACTGTCCCTTGATGGTTACTTTGTGGGCAGGCAGGGGTGAGGATGGAAGGGCAAGGGCCCGTCCTGAGGCTGCAGAGAAGGTCTTGGTGAAGGAGGATGAGGTCTGAATAGGGTGAGAGAGCAGAGACTGGAAAGGGACTGAAGATCAAGAGCCCCAGGAAGAATTCTTCCTCAGCATCAGTGTAGACTGTTTATTTCCTTTCACAGAGGAGGAAACTGGGGCACAGAGAGGATGCCCAAAGCTGCACAGCTAGCCAATGGGAGAGCCAGGATTTGAACCCAGCAGCTGATTGGAGTGGGGTAGGGGTGAGGGGCGGAGTATGAGAGGTCAAAGGTCAGGAAAGCAGTGGGGTTGACTCTGAGGTCCAGAAGCTGCATCTTCCCCCTTGAGTGTGACAGGTACATGTGGCCACTGCCATTCAGCACCATTAAATGCTGAATGGTGGCCAGGAAGGGAGGAGCATCAGAAGGAGCTTGAAGGTTTACTGGGGGGTTTTCATGTCTTTCCAGCACCTCAAGTTTGAGGCAGGGCTTTCAGGGGTGGGGGGCACAGCACTTTGATTGTGTCAGTGTAACAGGCTAATGATTATGTCCAGTGCAACAGGCAGGCCCAGGCCCGTCAGTGGTGGGGGGTTCCCCACACCCCAGGCTGGGATTCTGCCCCGCAACCTGGGAGGATTTAGGGCAAAGTTGATCCTAGTTGCAAATTGGCATTCTGAAGACCAGACTGAACTTGGTCTTGTTTGGCCTGTAGAGGGTTTTTAAAAAACATGGACCAGGGATTTCAAATCACCTAAAACCCAGGCTTTCTCGGTTATGCATTCAAAAGATGGAGCTACCCAGGGCCTGCCTTCCTCAGTGGCACAGAAAGTATACCCTCCAACCCCCACTGTTTGTCTTCCTCATCTGAGTCCCAGCTAATCCCTGGAGACACCTTAGTCGGCCGCCTTAGTAGGCCGCCCACGCTACCTGGGCAGAGGGGCCCGAGCCTGGAGTCAGGGAGGCTGGTGGGTGTGGAGTCCCAGGAACCACCACCAAGCCCCGCACATCCCTCCTAAGGAGGCCTGGCTGGGCCCTCTCTGCTCCGTGTGTGTAGCCGAAGGTGTCTGCGGAGGGTGCTGAGCAAGGCACATCCCACCCCATCCCGCTGGGGCTGGCATTGCTGGCGGGTTCTGTAAGACACAACCCCCACGGGTTGGCCTCATCTGAGTGGCCTTGGCAGAGTCCACTCTGCTTCTTGAAGCCTCAGTTTCCCCTTTGTAAAGTAAAGATCGAGGCATTCAGAGTCATGTCAGGGTGGTAGGGGGCAGAATGGGAGGGTCCTGGGACCTGAATCGGCAGCCTCGGCGGGGGCCTGTCCACCCCTCCCCCAGGTCCTCCCCACACGGCCGCTCACAATGCCTCGGTGGACATGTGCGAGCTCAAAAGGGACCTCCAGCTGCTCAGCCAGTTCCTGAAGCATCCCCAGAAGGCCTCAAGGAGGCCCTCGGCTGCCCCCGCCAGCCAGTAAGTTTGGCACCTGGGGCTGTGAGGGGAGGCAGGAAGGCATCAGAGATCTGGACCTGGGCAGGGTGGGACCTGGAGTAGGGGCTACTGCGAGGCCTTCCCTGGGACTGGA
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CCTGGCTGACCAAGGAGGAGGGAATGCACGTCTCCCACTACCTGGAGGAGGCTACTGGGGGTGGGGAGGGGCTTTGGCCAGTGGTGTGAACCAAAGGAGGCTGGGACTGACTCTGGAGGGAGTTGAGGAGGGCTTCCTGGAGGAGGTGTCCTCTGAGCTAGGTCTCAGGAATGATGATAGGGAGGTAGCTGGGGAGAACTCTGGGAGCCCCCTTTTTTCTGTGTTCCCTCCGGGCCTGGAGGGGCAAGGTGGTGACGGTTCCAGGTAGAACCCTCATGCCAGATTCTAGATAAGATAATCCCGTCACTCTGGGTTCAGGAGGGAGGTACTACGATTAGCCCGATTTTGAGTGACTTACACAAGGTCCTGCAGCGGGCAAAAGGTGGAACTGAGACTGGAACTCAGCTGGACTCTGGACAGCCACTCCCCCGCCTTTTTTTTTTTAAAGCAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAGTTATAGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGTGATCCTTCCACCTCAGCCTCCCTAGTAGCTGGGACCACAGGCATACACCGCCATGCCTGGCTAATTTTGTTTATTTATTGTAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCTGAATTCCTGTGCTCAAGCGATCCTCCTTTCTCAGCCTCCCAAAGCGCTGGGATTACAGACATAAGTCACCACGCCTGGCCTCACTGCCTCTTGGGGAGCGGCCTCTGGCCGCTCTGGGGAGGTCCATGGGCTTTTTCCACACTTGCTTCCCCACCTCACCTCCCACATCCATGCCACACTGGCCTCCTCTTCTGCAGGGCCAGCCCAACCACCACACAGTCCACACTCCCAGCTAACACTCCTGGTCTCTTCCAGGTGGTGACTTCCAAGAGTGACTCCGTCGGAGGAAAATGACTCCCCAGTCGCTGCTGCAGACGACACTGTTCCTGCTGAGTCTGCTCTTCCTGGTCCAAGGCAGGTCTTCCCAGGGGTGCCCTGGGCTGTTGGAACTTACGTTAAAATGCCCCTGTGCCTAGGGTGGCTGCCAGCACACATGCTAACTCCTTTAGGCAGTTACAGCTCGGCTAGTGGAGGGTACCTTGGAGAAAAGCAAAAGACACTCCTTCCTTCTGGCAGGTGCAGCCCTGCAGTGCACAGCTTAGGGTATGGAATATGGATGGGGTACTGGCCCCACTCACCTCTGCAGCCAGAGCATTCTTGTGCAGTGTACCACCTGCACAACCGTCTATGTCAGCCATGGCCTCATTAAATACTTCATTGCTGTTAAAAATATGTTTTCCCCTTGAAATTACTATTCGTTTTCAGTTTCCTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAGTTTCCTCTTTTTATAGTTTGATGCTGATAAGTTTTGAGTGGGAAAGACTAACACATTTTTGTAGACCCTTGGAATGTGTGTGAATCTCAGGCTCCAGGTTCACATGTACTCAGCCTAGGTCCTGTCCCCTTCCATGCCTCTGGTCAGCCCCTGCCACGGGGTCCCATCTGCAGCCTCTGCCTCCTCAGGTGCCCACGGCAGGGGCCACAGGGAAGACTTTCGCTTCTGCAGCCAGCGGAACCAGACACACAGGAGCAGCCTCCACTACAAACCCACACCAGACCTGCGCATCTCCATCGAGAACTCCGAAGAGGCCCTCACAGTCCATGCCCCTTTCCCTGCAGCCCACCCTGCTTCCCGATCCTTCCCTGACCCCAGGGGCCTCTACTACTTCTGCCTCTACTGGAACCGACATGCTGGGAGATTACATCTTCTCTATGGCAAGCGTGACTTCTTGCTGAGTGACAAAGCCTCTAGCCTCCTCTGCTTCCAGCACCAGGAGGAGAGCCTGGCTCAGGGCCCCCCGCTGTTAGCCACTTCTGTCACCTCCTGGTGGAGCCCTCAGAACATCAGCCTGCCCAGTGCCGCCAGCTTCACCTTCTCCTTCCACAGTAAGGCAACTTCCAGGCGGAGGGAACAACTGGGCAGTGGTCTAGAGGCAGGGAAGGCAAAATGCAAAGTGGACTGGGCTCACAATATCAGATCATGAAGACTGGGCTTTGCTCACAGGCACTGGGGAGCCAGTGAAGGTGTCTGAGGAGGGGAGGAGTGTAATCCAAGTGCTAGGATTACAGGCATGAACCACTGCGCTCGGCCCCACTGTCCCTTGATGGTTACTTTGTGGGCAGGCAGGGGTGAGGATGGAAGGGCAAGGGCCCGTCCTGAGGCTGCAGAGAAGGTCTTGGTGAAGGAGGATGAGGTCTGAATAGGGTGAGAGAGCAGAGACTGGAAAGGGACTGAAGATCAAGAGCCCCAGGAAGAATTCTTCCTCAGCATCAGTGTAGACTGTTTATTTCCTTTCACAGAGGAGGAAACTGGGGCACAGAGAGGATGCCCAAAGCTGCACAGCTAGCCAATGGGAGAGCCAGGATTTGAACCCAGCAGCTGATTGGAGTGGGGTAGGGGTGAGGGGCGGAGTATGAGAGGTCAAAGGTCAGGAAAGCAGTGGGGTTGACTCTGAGGTCCAGAAGCTGCATCTTCCCCCTTGAGTGTGACAGGTACATGTGGCCACTGCCATTCAGCACCATTAAATGCTGAATGGTGGCCAGGAAGGGAGGAGCATCAGAAGGAGCTTGAAGGTTTACTGGGGGGTTTTCATGTCTTTCCAGCACCTCAAGTTTGAGGCAGGGCTTTCAGGGGTGGGGGGCACAGCACTTTGATTGTGTCAGTGTAACAGGCTAATGATTATGTCCAGTGCAACAGGCAGGCCCAGGCCCGTCAGTGGTGGGGGGTTCCCCACACCCCAGGCTGGGATTCTGCCCCGCAACCTGGGAGGATTTAGGGCAAAGTTGATCCTAGTTGCAAATTGGCATTCTGAAGACCAGACTGAACTTGGTCTTGTTTGGCCTGTAGAGGGTTTTTAAAAAACATGGACCAGGGATTTCAAATCACCTAAAACCCAGGCTTTCTCGGTTATGCATTCAAAAGATGGAGCTACCCAGGGCCTGCCTTCCTCAGTGGCACAGAAAGTATACCCTCCAACCCCCACTGTTTGTCTTCCTCATCTGAGTCCCAGCTAATCCCTGGAGACACCTTAGTCGGCCGCCTTAGTAGGCCGCCCACGCTACCTGGGCAGAGGGGCCCGAGCCTGGAGTCAGGGAGGCTGGTGGGTGTGGAGTCCCAGGAACCACCACCAAGCCCCGCACATCCCTCCTAAGGAGGCCTGGCTGGGCCCTCTCTGCTCCGTGTGTGTAGCCGAAGGTGTCTGCGGAGGGTGCTGAGCAAGGCACATCCCACCCCATCCCGCTGGGGCTGGCATTGCTGGCGGGTTCTGTAAGACACAACCCCCACGGGTTGGCCTCATCTGAGTGGCCTTGGCAGAGTCCACTCTGCTTCTTGAAGCCTCAGTTTCCCCTTTGTAAAGTAAAGATCGAGGCATTCAGAGTCATGTCAGGGTGGTAGGGGGCAGAATGGGAGGGTCCTGGGACCTGAATCGGCAGCCTCGGCGGGGGCCTGTCCACCCCTCCCCCAGGTCCTCCCCACACGGCCGCTCACAATGCCTCGGTGGACATGTGCGAGCTCAAAAGGGACCTCCAGCTGCTCAGCCAGTTCCTGAAGCATCCCCAGAAGGCCTCAAGGAGGCCCTCGGCTGCCCCCGCCAGCCAGTAAGTTTGGCACCTGGGGCTGTGAGGGGAGGCAGGAAGGCATCAGAGATCTGGACCTGGGCAGGGTGGGACCTGGAGTAGGGGCTACTGCGAGGCCTTCCCTGGGACTGGA
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Task1_train_22753
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The following genetic variant occurs in ADGRG1 (adhesion G protein-coupled receptor G1) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Bilateral frontoparietal polymicrogyria
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GCTGTGAGCACTCCCTGAAGCTCAGTGCCGTCGCAGCCTCTCCCTGGGGCCTCCCGAGAAGGTTCCAGGCCCGAGGATAGCCATCCTAAGTCAGTAGTTCAACCGTGGGATTGAGGACCCTGTGTGGGCACAGTGGCAGGGTCTGCTTCCTATACCAGTCTCCTGGGGCCACCCGTGTGAACAGAAGACCAGCCCCTAAACGCCTGTCCACGCACCCCCCCCCCCCGTTTTTTTTTTTTCGAGACAGGGTCTTGCTTTGTCACCCAGACTGGAGTACAGTGGGGTAATCATGTCTCACTGCAGCCTCAAACTCCTGGTCTCAAGCGATTCTCCCACTTCAGCCTGTGAGCAGCTGGGACTGCAGGCTTGCTACCACACCTGGCTTTAAAAAATTCTTTGCAAGGCTAGGTGCAGTGGCTCACATCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTAGTACATGCCTGTAATTCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAACATTTTTTTATTTTTGTAAAGACAAGGTCTTGCTACGTTGTCCAGGTTGGTCTTGACCTCCGGGGTTCAAGCAGTCCTCTCGCCCTGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCACACACCCCATCTTGAGACTGCCCCCTGAGTGGCTCTGGTTAGCTGGGAACCACCCACACTGCCCACATGGCCACCCCCAAGTTGGCTGCTGTAGGCAGAGCTGGCATCTGAAGCCCCAGACAACAGAACATCATGTGGTTCTCCCAGGGCTATTTGCCCTGGAGTCCTGGATTCTAACCACAAGACTCCCCAGCCAGAGCTGGTAGCAGGGAAGGGAGGGATGAGGAGGGCTGTCATGAGTCAGGCTTGACTTCCTGAAGAAATGGGCTTAGAAGTGGCAGCGTCCAGGAACGGATGGGTGTGTGTGTGTGTGTGCTAGGGTGGGGGGCACGGATCTAGGGGTCCGCATTTGGCTGAGCCCTAAAGGGACCTCTGCAGGAGGAGCAGAGCGAGATCATGGAGTACTCGGTGCTGCTGCCTCGAACACTCTTCCAGAGGACGAAAGGCCGGAGCGGGGAGGCTGAGAAGAGACTCCTCCTGGTGGACTTCAGCAGCCAAGCCCTGTTCCAGGTATGGGGTCCTCACCCTCATGCCTCCCAGGAGAAAGCAGTTTTTTTCTGACAGAGGTGGAAAGAAGGCACGCAGATGAGCTCCTTCCTCTGGGAGTCAAAGCCTTTCCTTGTAAAGTTACAAATTGCACTGCAATGTGCAAATCTCCCTGTGAGAGGGCTAAGCAATGTTCTTCTTACTATAGTGTAAATGACTACATGGGCAAAAGTGGTTCCAGAGGGAGACGCAGCATCTCAAGGCAATGTGCTGGGAGAGGGTTATCTAGAGAGGGTAAGGGGCTTCTGGGCCCTTCTTCTCAGTCCTGAACTCCCTCCCTACTCTCTTCCTCCAACCCCATGTATCTAGGACAAGAATTCCAGCCAAGTCCTGGGTGAGAAGGTCTTGGGGATTGTGGTACAGAACACCAAAGTAGCCAACCTCACGGAGCCCGTGGTGCTCACTTTCCAGCACCAGCTACAGCCGGTGAGTGGGGGCCAGCCATCAAGAGAACAAGCGCCCCTCGGCCATGTCACCCTTTCCTCTCCCTCCCTCCAGACTCATTTGTCTTTATAATGAAACGATTGCCTGATCGAGCAGTCAGGTCCAAATGGGGCGGGTGGTGGCTTGACTGTGTTCTAGACTTCCTCTGCCTGGCCTGTAAAGTTGGAGGGGTGGGGGGCTGTCACAGAAACCACTCTCCTTTCTTGTCCCTACAGAAGAATGTGACTCTGCAATGTGTGTTCTGGGTTGAAGACCCCACATGTGAGTATGCAGGGGTCTCTGGGCTGGACAAGTATCTGGAAGAGAAATAGAGTCCTGGGGGGTGGGGGAGGTGGGGTTAATCACCGAGGGCTTCCTGGAGAAAGGAGGACTTTGAAGAGAGAGCGATGGCAGGCTATGAGTAGGCCGGGTGGAAGAATGACACAGTCGTGCTTTTGGGGGTGGACACAGTGGGGTCCTGGAGGACTGGACTTGATTGGAGCCCCGTGCTGTCCCCTCCTCAGTGAGCAGCCCGGGGCATTGGAGCAGTGCTGGGTGTGAGACCGTCAGGAGAGAAACCCAAACATCCTGCTTCTGCAACCACTTGACCTACTTTGCAGTGCTGATGGTGAGGGTCCCTGCTCCCACCTCGCAGCCACACCCCAGGCCGTGTGCTTGTTCTGTGCAAGCACTTTTCATATATTCAGTCATTTATTCCTCATAACAGCTCTCCAAGGTAGCTTCTATTGTTGTCCCATTTTATAGATGAGGAAATGGAGGCTCAGAGAGGTTAAGCAATTTACCCGTGGCCACACAGCTAGTCAGTGAAAGAGCTGGTTTGTAGAGCCCCTGCTCTTTATTCCCAAATTTTGGTGTGTACGAAAATGCAGATTCCTGGCCCTCACCTAGGGTTCTGATTTGGCAGTGATGGGGCCAAGAGTGTTTCTAATGAGGCCCCTGAGGTGGCCTCCAGTGCCCCCAAGACCTCAGAATTCATGCTCCCAGGACTGTAGGATTCTGCCTGTGGGTATCCACCTGGGGCTTGAACACCCCTGGGTGTGGGAATCTCATTCCCTCACAGGAAACCTATTCCCATGTTAAATGTTATAGAAGAATAATCAATGCCAGGACAGAATAGGGGTTCTCTCATGAAGGGTTCTTGGCCTCTGTGGGTCAGGAAGCCGCTTGAGAATGTGGTCAAATCTAAAGATGCCCCCACTCCAGAAAAATGCACTTATGGGACCACATTCTGCTCAGTTGGGAGAGGGGGTTCTTAGGCTTCCGAGGCCCACCAGGGACCCCAGGTTAGCCCCTCACGCAGGGCAAGCCTCCAGGTTGTGTGGGGGACACAGAGGCCAGCTCTCTCCTGTCTCCTGGGGCCAGGTCTCCTCGGTGGAGGTGGACGCCGTGCACAAGCACTACCTGAGCCTCCTCTCCTACGTGGGCTGTGTCGTCTCTGCCCTGGCCTGCCTTGTCACCATTGCCGCCTACCTCTGCTCCAGGTGAGGCCTGAAAGGGGTGGGACAGGGGAGGGGACCCTCCATTGCACACACCTCCACCAGGGCGCCGCACACATCTCCGGTCATGGCCCGCCCGCATGACCTGGAACTGTGTGTGTGGTTAGGGGAGCTGTTTGGGGTAAGCTGACCCTTGGGGGCCACGTCTCCTCCTCAGATCAGTGGTGTTTGGATAACATAGTATTTACAAATTTTAGCTGTCGACATTGTATTTATTTATTTTTATTTTTATTTTATTATTATTATTTTTTTGAGACAGAGCCTTGCCTCTGTCGCCCAGGCTGGAGTGTAGTAGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTTGTGCCTCAGCCTCCTGAGTAGTTGGGACTACTGGCGCCTGCCACCACACCTGGCTAATCTGTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCCCCCGAAGCGCTGGGATTACAGGCATGAGTCACTGTGCCAGGCTAATTGTCAACATTTAAAATTGAGAGAGTCCACCTAAGAATCTGTTTCTTTCCTAGAGTAAGACAGGAAAGCAAAATAAAAAACTTAAAAAAGGAAAGATTTTTCATTTCTGCCTTTGAATAAGCAGATTTGTGAGAGCACTGGGTGGACACAATAATATCACAGCGGTAATGATCATACTTAACGTGTGTCAAACTTCCCGTGTGCCATGCACTGTTCTAAGTGTTTTACATGTGTGAACTCAATTCATC
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GCTGTGAGCACTCCCTGAAGCTCAGTGCCGTCGCAGCCTCTCCCTGGGGCCTCCCGAGAAGGTTCCAGGCCCGAGGATAGCCATCCTAAGTCAGTAGTTCAACCGTGGGATTGAGGACCCTGTGTGGGCACAGTGGCAGGGTCTGCTTCCTATACCAGTCTCCTGGGGCCACCCGTGTGAACAGAAGACCAGCCCCTAAACGCCTGTCCACGCACCCCCCCCCCCCGTTTTTTTTTTTTCGAGACAGGGTCTTGCTTTGTCACCCAGACTGGAGTACAGTGGGGTAATCATGTCTCACTGCAGCCTCAAACTCCTGGTCTCAAGCGATTCTCCCACTTCAGCCTGTGAGCAGCTGGGACTGCAGGCTTGCTACCACACCTGGCTTTAAAAAATTCTTTGCAAGGCTAGGTGCAGTGGCTCACATCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTAGTACATGCCTGTAATTCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAACATTTTTTTATTTTTGTAAAGACAAGGTCTTGCTACGTTGTCCAGGTTGGTCTTGACCTCCGGGGTTCAAGCAGTCCTCTCGCCCTGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCACACACCCCATCTTGAGACTGCCCCCTGAGTGGCTCTGGTTAGCTGGGAACCACCCACACTGCCCACATGGCCACCCCCAAGTTGGCTGCTGTAGGCAGAGCTGGCATCTGAAGCCCCAGACAACAGAACATCATGTGGTTCTCCCAGGGCTATTTGCCCTGGAGTCCTGGATTCTAACCACAAGACTCCCCAGCCAGAGCTGGTAGCAGGGAAGGGAGGGATGAGGAGGGCTGTCATGAGTCAGGCTTGACTTCCTGAAGAAATGGGCTTAGAAGTGGCAGCGTCCAGGAACGGATGGGTGTGTGTGTGTGTGTGCTAGGGTGGGGGGCACGGATCTAGGGGTCCGCATTTGGCTGAGCCCTAAAGGGACCTCTGCAGGAGGAGCAGAGCGAGATCATGGAGTACTCGGTGCTGCTGCCTCGAACACTCTTCCAGAGGACGAAAGGCCGGAGCGGGGAGGCTGAGAAGAGACTCCTCCTGGTGGACTTCAGCAGCCAAGCCCTGTTCCAGGTATGGGGTCCTCACCCTCATGCCTCCCAGGAGAAAGCAGTTTTTTTCTGACAGAGGTGGAAAGAAGGCACGCAGATGAGCTCCTTCCTCTGGGAGTCAAAGCCTTTCCTTGTAAAGTTACAAATTGCACTGCAATGTGCAAATCTCCCTGTGAGAGGGCTAAGCAATGTTCTTCTTACTATAGTGTAAATGACTACATGGGCAAAAGTGGTTCCAGAGGGAGACGCAGCATCTCAAGGCAATGTGCTGGGAGAGGGTTATCTAGAGAGGGTAAGGGGCTTCTGGGCCCTTCTTCTCAGTCCTGAACTCCCTCCCTACTCTCTTCCTCCAACCCCATGTATCTAGGACAAGAATTCCAGCCAAGTCCTGGGTGAGAAGGTCTTGGGGATTGTGGTACAGAACACCAAAGTAGCCAACCTCACGGAGCCCGTGGTGCTCACTTTCCAGCACCAGCTACAGCCGGTGAGTGGGGGCCAGCCATCAAGAGAACAAGCGCCCCTCGGCCATGTCACCCTTTCCTCTCCCTCCCTCCAGACTCATTTGTCTTTATAATGAAACGATTGCCTGATCGAGCAGTCAGGTCCAAATGGGGCGGGTGGTGGCTTGACTGTGTTCTAGACTTCCTCTGCCTGGCCTGTAAAGTTGGAGGGGTGGGGGGCTGTCACAGAAACCACTCTCCTTTCTTGTCCCTACAGAAGAATGTGACTCTGCAAAGTGTGTTCTGGGTTGAAGACCCCACATGTGAGTATGCAGGGGTCTCTGGGCTGGACAAGTATCTGGAAGAGAAATAGAGTCCTGGGGGGTGGGGGAGGTGGGGTTAATCACCGAGGGCTTCCTGGAGAAAGGAGGACTTTGAAGAGAGAGCGATGGCAGGCTATGAGTAGGCCGGGTGGAAGAATGACACAGTCGTGCTTTTGGGGGTGGACACAGTGGGGTCCTGGAGGACTGGACTTGATTGGAGCCCCGTGCTGTCCCCTCCTCAGTGAGCAGCCCGGGGCATTGGAGCAGTGCTGGGTGTGAGACCGTCAGGAGAGAAACCCAAACATCCTGCTTCTGCAACCACTTGACCTACTTTGCAGTGCTGATGGTGAGGGTCCCTGCTCCCACCTCGCAGCCACACCCCAGGCCGTGTGCTTGTTCTGTGCAAGCACTTTTCATATATTCAGTCATTTATTCCTCATAACAGCTCTCCAAGGTAGCTTCTATTGTTGTCCCATTTTATAGATGAGGAAATGGAGGCTCAGAGAGGTTAAGCAATTTACCCGTGGCCACACAGCTAGTCAGTGAAAGAGCTGGTTTGTAGAGCCCCTGCTCTTTATTCCCAAATTTTGGTGTGTACGAAAATGCAGATTCCTGGCCCTCACCTAGGGTTCTGATTTGGCAGTGATGGGGCCAAGAGTGTTTCTAATGAGGCCCCTGAGGTGGCCTCCAGTGCCCCCAAGACCTCAGAATTCATGCTCCCAGGACTGTAGGATTCTGCCTGTGGGTATCCACCTGGGGCTTGAACACCCCTGGGTGTGGGAATCTCATTCCCTCACAGGAAACCTATTCCCATGTTAAATGTTATAGAAGAATAATCAATGCCAGGACAGAATAGGGGTTCTCTCATGAAGGGTTCTTGGCCTCTGTGGGTCAGGAAGCCGCTTGAGAATGTGGTCAAATCTAAAGATGCCCCCACTCCAGAAAAATGCACTTATGGGACCACATTCTGCTCAGTTGGGAGAGGGGGTTCTTAGGCTTCCGAGGCCCACCAGGGACCCCAGGTTAGCCCCTCACGCAGGGCAAGCCTCCAGGTTGTGTGGGGGACACAGAGGCCAGCTCTCTCCTGTCTCCTGGGGCCAGGTCTCCTCGGTGGAGGTGGACGCCGTGCACAAGCACTACCTGAGCCTCCTCTCCTACGTGGGCTGTGTCGTCTCTGCCCTGGCCTGCCTTGTCACCATTGCCGCCTACCTCTGCTCCAGGTGAGGCCTGAAAGGGGTGGGACAGGGGAGGGGACCCTCCATTGCACACACCTCCACCAGGGCGCCGCACACATCTCCGGTCATGGCCCGCCCGCATGACCTGGAACTGTGTGTGTGGTTAGGGGAGCTGTTTGGGGTAAGCTGACCCTTGGGGGCCACGTCTCCTCCTCAGATCAGTGGTGTTTGGATAACATAGTATTTACAAATTTTAGCTGTCGACATTGTATTTATTTATTTTTATTTTTATTTTATTATTATTATTTTTTTGAGACAGAGCCTTGCCTCTGTCGCCCAGGCTGGAGTGTAGTAGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTTGTGCCTCAGCCTCCTGAGTAGTTGGGACTACTGGCGCCTGCCACCACACCTGGCTAATCTGTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCCCCCGAAGCGCTGGGATTACAGGCATGAGTCACTGTGCCAGGCTAATTGTCAACATTTAAAATTGAGAGAGTCCACCTAAGAATCTGTTTCTTTCCTAGAGTAAGACAGGAAAGCAAAATAAAAAACTTAAAAAAGGAAAGATTTTTCATTTCTGCCTTTGAATAAGCAGATTTGTGAGAGCACTGGGTGGACACAATAATATCACAGCGGTAATGATCATACTTAACGTGTGTCAAACTTCCCGTGTGCCATGCACTGTTCTAAGTGTTTTACATGTGTGAACTCAATTCATC
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Task1_train_22754
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Here is a variant affecting KATNB1 (katanin regulatory subunit B1) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Lissencephaly 6 with microcephaly
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GAACAGGGACAAAGTCCTCCTGCCACGGGGGACCATCTGCAGGCAAAGTGAAGAATGAGGAGCTTCGGCAAAATGCCGACTAAGGCCTCCTTAGGTTTTGCCCCACTCCAAGATGGAAGGCCTGAGGCTTCACACTGCCCCCGAAGTTCCTTTCCCATTGGCTATCTGGGAATTGAGTTTTCCAATAATGCGGACGCTGATTGGTCAATCCAGGACGGTTGCTCAAGCCATTGGCGCAGCCGCCATTGGAGGGCGGCTCTCAAAAGTTTTCAGACACAAATTAGGTTCGAGGGAGGAAACGGAGAGGAAAGGGAAAACTTGAGACGGAGGCGGGACTAAGGAAACGGCAGCTTGCATTGGTTTATTAGAGGCCAAGGGGCGGCTCTTGAACGTTCCTTCCTCTTGATTAGTCCTATTTAGGAAAAGAGGGCGGGTACTGAGGAAAAGCGGCAGAAGCGCCTGCTTCCATTGGTCAGTCCTGGCAGGAGGCGGAGCACCCGCGGCAGCTGATTGGTGCGGGAGGCAAGGTGGGCGGGGCTCTGAGCCGGAGGTTTTGTTGTGAGGGTCGGTTGTCAAGCAGCGGCCAATCAAGGCAGGGGATGGAGGCAAGTGGGGGTCGCGCCTGGAGCGGAGCCTCGGCCTCCGGAGCCGCAGCTGCAGGTGGAGTGGGCAAGGGGACGAGGTGGCGAGGGGACGGTGGGCCCTGGGCTGGGCCGAGCCAGGCGGGGCTGGCTGGGCTTGCGGGCAGAGAGCTCTGAGCGTGGGGAGGCTAGAGCCCGTACTCCGCAAGCAGAGGGTTGGGAGGATCAGCCGTGGCCGAGGGACCTGCCCCCGCCCCCGGACGAGAGGGGTCGGGGTGGAGGCCGGAGGGGGCAAAACCAGGGAGGCCGGAAGCAGAGCTGGGGGTCTGCAGAAGGACAGGTAATGAATAGGGAGAAGAGAAGTAGGAGAATGAATGAATGGGAGACCCCGCGAGCATATGGGAAAGGGCAGTAACGGGAGTCTGGCGAGGCAGGGGCCACGTGAGGGATATCGGGAGACAGGATGTGCATAAGTGGGAGACTCAGGGGGCAGGGAGAAAAGGGGGTGTGAACGGAGGACTAGAGAGGCAGACCCGGGGACCCAGGAGAAAGGGGACGGAGGGGAGCGGGCTCATGGGAAAGAGGTGAAGTGGCTGTGGGAAGGAGGTGGGAGGCTCCATGAGGAGGCCTTTTAGAGTTGAAGAGTCATAGCCACTTACGCCCAGACTGGAGGCCTAGTTCCTAGCTCTGTCCTTGGGAATCGCAGGGAGCAGGAGCGGTTCCCTTGCCAGGAGCTGGGGAATTGGACCATCAGGGTCGTCTTCGAGATTCTTTCCAAGGAGGACTTCAGTGGCCGTCTCTGGGATGCCTTTCCTAGGCCCCTAAGCTTAGCTTCTGACTCCGCTCTCCCACATCCCACACGTCAGACAAAAACAACGACTCGCAGGAAATCTATGTGAATTGCAGACACGTGGTCTTCTCCGCCCCACTGCGGCTGCTGCACTTTAGGCAGCCAGCATCCCGGAACAGAGCTGCAGCTCATTATCCTGGCCTCTGGGAGGAGTTTCTTTTTCCTTACGTTCCAAATCACCCTACCTGAGGTGCCCCCTCTGCAGATTCCCAAACCTAATTTGCAGTGCAGCTTCTGACTCTGGTGGCTTTGGTGGGTGTCAGTCTTTATCAAGTGGTCTTGGTGATCCAGGGAGCAACAGCTCTTACCAAGCATTTTCTAACATGACGTCACCTCTTGTTTGTATTGCAGCCCTGTATTGAGCTGAGATGGCTCGAGCCTAACATTCCATGATCCAGGATCGTGACAGATGTGCACAGGCTGCTGCTGTTGCTGCTGTGGGTAATTTGGAACCACGAGGCACCCCAGGGCCAGAAGACGAGGCATTCTGTCTGCCTGGATGTGTGGGAACTCTCTGCCAACTTGATTGGTGGATCTGGGGGGGGATCCACCCCCACCCCACGAGGAAAGCACAGTTTATTTTGTGGGTGGGGCTTCAGGTGCCAGCCAGCTGAAGGATGGCCACCCCTGTGGTCACCAAGACAGCCTGGAAGTTGCGTGAGTGGTTTTCATTTTTCTTTATCACCCCATTTATTCTGTTAGCGGCTTGTTGCTGGGAGGCCTGAACCCACAGCTTTGTTTCCTGTTCTTGGCACAGGAGGAGACTCCTAGACTTGGGAGTAAGATAGACCATTATGTAAATCATGACTGTGGCACTTCTTAGCTGGGTGACACTGGGCAGGTGACTTAACCTCTCTGAGGCTCAGTTTTCTTATATGTACAATGAGATGACGCCTGCATTCTATGGTTGCTGTGAAATTCAAGTGACAGGATGAACCCATCCTAAAGCACTTAGCACAGCATTTCCAGTTAGGCTGACAGTGGGGTGAGAAATCCTGAAAGATGTTCACAGCATTCTCAGACATCTCACAAGTCAAACTTCCCCAGTCAGATAAAAGCATCTTGGGCCTGGGATGGGGGAAGGAGTGGGAGCGAGGAGGGGCGGGCAGAGGGATGCAGACAGGGCTCGGATTGTAACTGATGGGCACTGTCCACTCCCACCATTGCCCTATACAAGTGGATCTGGACTCTTTCATCTGAAGACTTCATACTTTAAGAATTATTGAGGACCCCAGAGTGCTTTTGTTTGTTGGAGTTATATATCTGTCAGTATTTACCACGTTAGAAGTTAATACTGAGACATTTTCAAACAAGAGTATATAATCAAATAGGCCTCTAGTGATGTTCTGGGAAACTCCACCATATGCTTGAGAGCAAATGAGAGTGCAAAAGGCAGATGCCATCTTAGTGTTATTGTGAAAATCCTTTTGTCTTCTCAGACCCCCCGAAAGGATCTTGAGGATCCCAAGCATCCCCAGATCATATTTTGAGAATTCCCCTACACATTGGCACCTTGGTGGGCCCTGCCCCACCTATTGTAACTGGTTGGCATAGCTTTTGTGTGCTCCACCTGGTCACTGTCTGCTGCCAGCTGTCCCTGGGCTGGTTTTCAGGAGCTGGGACAAGACTCCACACTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCACCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCTTCCCGGGTTCATGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGCACCCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTCGTCTCGAACCCCTGACCTCAGGTGATCCACGTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCATGCCTGGCCAAGACTCCACACTTTTTAACCATGAATTTAACCATAAGACTCTGGGCAAAGCTCTTTGCAGGGCCTCTGTTTCCTTGTTTGTAAAGTGAGAGGTTTGGGCCATTTTCATGTTGTTCCCCAAAACTCTAGGGCTCTGGGAGAACCCTGTTATGGTTCCCCAAGGAAGGCACACTTTGGTCAGAGTGGCTTTGTAATTATTGGGATTACGTATTCATCCCTTCGACAGCTGGCCTTTCCCCAGAGCTAGGCACTGGGGAGCCACTGGGGGACAAAGTAGTCAAGGTCTCTGTACAGCGGGAGCTCAGAGCCTGGGGAGAGCAACAGGCAGGAACTGGATAACCGTATCCCTCTGTGTCTCCTCTAGTTGCAAGCTGGTGCCTGTGCTTTGAATCAGTTAGCTGGGGGGTAGGGGTAGGGGTGGGGTGGGAATGCTGCAGGCTGCATGAACAGCAAGTGCAAAGGCCCTGAGGCAGGAGGCTCAGTGTATTGGAAGGACTCAAGGGAGGCCATGGGCAGTGGCACAGCAGCAGGAGGAATGTGGGGCCGCACGGACCTACTGAGTTCTCAGGACCCCAGCCCTCCTGAGGCTGCCGTGCTTTATCATAAAGGCAAGGCCAAGCCATCAGTGTGTGCGAGCAGGAGGTAATGAGATCAGGCGTATTGGGCATCTGCTGCTGCTGCTGATTTCATGTGCACGGTGGTGTCCGTGGGAATCAACTCTGAAGAGCCCAGGGCC
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GAACAGGGACAAAGTCCTCCTGCCACGGGGGACCATCTGCAGGCAAAGTGAAGAATGAGGAGCTTCGGCAAAATGCCGACTAAGGCCTCCTTAGGTTTTGCCCCACTCCAAGATGGAAGGCCTGAGGCTTCACACTGCCCCCGAAGTTCCTTTCCCATTGGCTATCTGGGAATTGAGTTTTCCAATAATGCGGACGCTGATTGGTCAATCCAGGACGGTTGCTCAAGCCATTGGCGCAGCCGCCATTGGAGGGCGGCTCTCAAAAGTTTTCAGACACAAATTAGGTTCGAGGGAGGAAACGGAGAGGAAAGGGAAAACTTGAGACGGAGGCGGGACTAAGGAAACGGCAGCTTGCATTGGTTTATTAGAGGCCAAGGGGCGGCTCTTGAACGTTCCTTCCTCTTGATTAGTCCTATTTAGGAAAAGAGGGCGGGTACTGAGGAAAAGCGGCAGAAGCGCCTGCTTCCATTGGTCAGTCCTGGCAGGAGGCGGAGCACCCGCGGCAGCTGATTGGTGCGGGAGGCAAGGTGGGCGGGGCTCTGAGCCGGAGGTTTTGTTGTGAGGGTCGGTTGTCAAGCAGCGGCCAATCAAGGCAGGGGATGGAGGCAAGTGGGGGTCGCGCCTGGAGCGGAGCCTCGGCCTCCGGAGCCGCAGCTGCAGGTGGAGTGGGCAAGGGGACGAGGTGGCGAGGGGACGGTGGGCCCTGGGCTGGGCCGAGCCAGGCGGGGCTGGCTGGGCTTGCGGGCAGAGAGCTCTGAGCGTGGGGAGGCTAGAGCCCGTACTCCGCAAGCAGAGGGTTGGGAGGATCAGCCGTGGCCGAGGGACCTGCCCCCGCCCCCGGACGAGAGGGGTCGGGGTGGAGGCCGGAGGGGGCAAAACCAGGGAGGCCGGAAGCAGAGCTGGGGGTCTGCAGAAGGACAGGTAATGAATAGGGAGAAGAGAAGTAGGAGAATGAATGAATGGGAGACCCCGCGAGCATATGGGAAAGGGCAGTAACGGGAGTCTGGCGAGGCAGGGGCCACGTGAGGGATATCGGGAGACAGGATGTGCATAAGTGGGAGACTCAGGGGGCAGGGAGAAAAGGGGGTGTGAACGGAGGACTAGAGAGGCAGACCCGGGGACCCAGGAGAAAGGGGACGGAGGGGAGCGGGCTCATGGGAAAGAGGTGAAGTGGCTGTGGGAAGGAGGTGGGAGGCTCCATGAGGAGGCCTTTTAGAGTTGAAGAGTCATAGCCACTTACGCCCAGACTGGAGGCCTAGTTCCTAGCTCTGTCCTTGGGAATCGCAGGGAGCAGGAGCGGTTCCCTTGCCAGGAGCTGGGGAATTGGACCATCAGGGTCGTCTTCGAGATTCTTTCCAAGGAGGACTTCAGTGGCCGTCTCTGGGATGCCTTTCCTAGGCCCCTAAGCTTAGCTTCTGACTCCGCTCTCCCACATCCCACACGTCAGACAAAAACAACGACTCGCAGGAAATCTATGTGAATTGCAGACACGTGGTCTTCTCCGCCCCACTGCGGCTGCTGCACTTTAGGCAGCCAGCATCCCGGAACAGAGCTGCAGCTCATTATCCTGGCCTCTGGGAGGAGTTTCTTTTTCCTTACGTTCCAAATCACCCTACCTGAGGTGCCCCCTCTGCAGATTCCCAAACCTAATTTGCAGTGCAGCTTCTGACTCTGGTGGCTTTGGTGGGTGTCAGTCTTTATCAAGTGGTCTTGGTGATCCAGGGAGCAACAGCTCTTACCAAGCATTTTCTAACATGACGTCACCTCTTGTTTGTATTGCAGCCCTGTATTGAGCTGAGATGGCTCGAGCCTAACATTCCATGATCCAGGATCGTGACAGATGTGCACAGGCTGCTGCTGTTGCTGCTGTGGGTAATTTGGAACCACGAGGCACCCCAGGGCCAGAAGACGAGGCATTCTGTCTGCCTGGATGTGTGGGAACTCTCTGCCAACTTGATTGGTGGATCTGGGGGGGGATCCACCCCCACCCCACGAGGAAAGCACAGTTTATTTTGTGGGTGGGGCTTCAGGTGCCAGCCAGCTGAAGGGTGGCCACCCCTGTGGTCACCAAGACAGCCTGGAAGTTGCGTGAGTGGTTTTCATTTTTCTTTATCACCCCATTTATTCTGTTAGCGGCTTGTTGCTGGGAGGCCTGAACCCACAGCTTTGTTTCCTGTTCTTGGCACAGGAGGAGACTCCTAGACTTGGGAGTAAGATAGACCATTATGTAAATCATGACTGTGGCACTTCTTAGCTGGGTGACACTGGGCAGGTGACTTAACCTCTCTGAGGCTCAGTTTTCTTATATGTACAATGAGATGACGCCTGCATTCTATGGTTGCTGTGAAATTCAAGTGACAGGATGAACCCATCCTAAAGCACTTAGCACAGCATTTCCAGTTAGGCTGACAGTGGGGTGAGAAATCCTGAAAGATGTTCACAGCATTCTCAGACATCTCACAAGTCAAACTTCCCCAGTCAGATAAAAGCATCTTGGGCCTGGGATGGGGGAAGGAGTGGGAGCGAGGAGGGGCGGGCAGAGGGATGCAGACAGGGCTCGGATTGTAACTGATGGGCACTGTCCACTCCCACCATTGCCCTATACAAGTGGATCTGGACTCTTTCATCTGAAGACTTCATACTTTAAGAATTATTGAGGACCCCAGAGTGCTTTTGTTTGTTGGAGTTATATATCTGTCAGTATTTACCACGTTAGAAGTTAATACTGAGACATTTTCAAACAAGAGTATATAATCAAATAGGCCTCTAGTGATGTTCTGGGAAACTCCACCATATGCTTGAGAGCAAATGAGAGTGCAAAAGGCAGATGCCATCTTAGTGTTATTGTGAAAATCCTTTTGTCTTCTCAGACCCCCCGAAAGGATCTTGAGGATCCCAAGCATCCCCAGATCATATTTTGAGAATTCCCCTACACATTGGCACCTTGGTGGGCCCTGCCCCACCTATTGTAACTGGTTGGCATAGCTTTTGTGTGCTCCACCTGGTCACTGTCTGCTGCCAGCTGTCCCTGGGCTGGTTTTCAGGAGCTGGGACAAGACTCCACACTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCACCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCTTCCCGGGTTCATGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGCACCCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTCGTCTCGAACCCCTGACCTCAGGTGATCCACGTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCATGCCTGGCCAAGACTCCACACTTTTTAACCATGAATTTAACCATAAGACTCTGGGCAAAGCTCTTTGCAGGGCCTCTGTTTCCTTGTTTGTAAAGTGAGAGGTTTGGGCCATTTTCATGTTGTTCCCCAAAACTCTAGGGCTCTGGGAGAACCCTGTTATGGTTCCCCAAGGAAGGCACACTTTGGTCAGAGTGGCTTTGTAATTATTGGGATTACGTATTCATCCCTTCGACAGCTGGCCTTTCCCCAGAGCTAGGCACTGGGGAGCCACTGGGGGACAAAGTAGTCAAGGTCTCTGTACAGCGGGAGCTCAGAGCCTGGGGAGAGCAACAGGCAGGAACTGGATAACCGTATCCCTCTGTGTCTCCTCTAGTTGCAAGCTGGTGCCTGTGCTTTGAATCAGTTAGCTGGGGGGTAGGGGTAGGGGTGGGGTGGGAATGCTGCAGGCTGCATGAACAGCAAGTGCAAAGGCCCTGAGGCAGGAGGCTCAGTGTATTGGAAGGACTCAAGGGAGGCCATGGGCAGTGGCACAGCAGCAGGAGGAATGTGGGGCCGCACGGACCTACTGAGTTCTCAGGACCCCAGCCCTCCTGAGGCTGCCGTGCTTTATCATAAAGGCAAGGCCAAGCCATCAGTGTGTGCGAGCAGGAGGTAATGAGATCAGGCGTATTGGGCATCTGCTGCTGCTGCTGATTTCATGTGCACGGTGGTGTCCGTGGGAATCAACTCTGAAGAGCCCAGGGCC
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Task1_train_22755
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A genomic change on Chromosome 16 affects KATNB1 (katanin regulatory subunit B1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Lissencephaly 6 with microcephaly
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GAGGGGAGTGATGTGGGCTCCTCCAGAAGGGCCCAACTTCTAAATCTTTCTCACTCCAAAGTCTGCGGTTTTGCCAGCTCAGTGTCCCGCCCCCACCACCATCTGATTATACTGGGGCATATTTCGTGCAAGGCCTAGAACAGGCACCCAGGAAATACTGATATTATGAATGAATGCCCCTGACTCCAGGGGCAGCAGTCCTGAGGCCCAGTGAGGTGGGGCCCAGCCAGACACTTTCCCTGGGAGGAGTGAGGGCCAGGGGACAGACAGAGCCCTCCAGGTAGGCCAGGGGGAGCGAGCAGTGCCTCCACGGAGAGGACACCAGGCTCGGGCACGGAATGCCAGGGAGAAGGTGCTTTGCCCTCTTTCTGGGTCAGGTGGAAACCTTGAACAGACACGTCTGTGGCTGGAATTCCTCAGGTTTCTGTCCCGACAGTGTCCAGAGGACAGAAGGCTCTCATCGAGACGGGACTAAAGTGGGGCCCAGCTCCCTGGGATCCCCATGGCGAACTCCCAGCGCCCTGGCCCAGGTTTGGGCCCACAGGGAACCCTCGCCCTTGCTGGCGCTGCTGCCTGTGCTGGCTCTGCCCCGACCGGCCCAGGAGGCAGGGTGTCATCAGTGAGATTCAGCCTGCGACTTGTCCCCTGGGTATTCCTGGTGGCCCCTTGGAGCCCAGGTTTCTGGCAAGCAGCTTCCCTGGGCCCAGTTTCCCAACCTCCTTGTGGTCTGAAGCCCGCAGCAGAGACACCCAGGCAGGGTGGAGTCGGAGCTGGGGTGCAGGAGGGGCCTCTGTGGAGCGCCGTGGCTCCAACACCCTTTTCCTTGGCGTCACCCACGCTGGCCTTCCGGGTGCCTCGGGGCGTCAGCACCTTGGGGTTTTCCCCTGGCCTGTGTGGGGAGAACTGTCTTTTTTCTCCCTTCTTTCCAGGAGGAGCTCATGCAGGGATGGGTTCTGAGGCCCGGGCCGCCTCTTGGTTCCCTGCCTGTGCTTTGCTCCCTGCGGAGTCCTCCGAGGCTCCTGTCTGCCATCTCCACGGACCAGGCCAGGGCCTTGGGCTGTCTGCACAGGCTCCTCCTCTGTGTGGTCAGCCCTCACCCCCACCCCAGCTGCTCAGTCTGTTGCCTCCTGCCCCCTCCTCATGAAGCCCACCCTCTGGTGCCCGCCCAGGCCCCCATGCCCACTCTCTCATGGTGACTAGCCCCGAGCCTGCCCAATGTCACGGAGCCCTCGCCTGCTACTAAGCAGCACGTAGGCGCGCTCTGAGGGAGTCCTCAGCATCAGGTGTGAGCAGACACCACGGGCATCCCCACTTTCCAGACGAGGAGCCAGGCCCTCAGAGGACAAGTGACCTAGTAGCCAAGGCCACGCAATAGCAGATCACAGACCTCAGACCAGAACCTGATCCGTGATTGTGAATCTGAGCCGAAGCCCTGTGCAGGCTTACCTGGGGGCAGCTTGTCTAGAGGTGACTTCGGTTGTTCTTAAAGTGTGTTCTCCAAAGCAGGGTTTGTATGTACACACAAGCAGCAGCTGAGAGGTGTGTAGGCAGTGCATGGGTCAATTTTTTTTATTTCAATAATTGTTTTTCTTTTTGTATCATAGAAAGAGTATCATGAGTATATCAAACTTGTAATTTCATGGACATTGCTTAAGCCCAAGCTAATAAAAATAGCAAGTCAATTTTAAAAATTGCGTATAACTAGTCAATATTACCAGGTGATATGCAGAAACAGGAAGAAAATCGTGAAGTCTAAAGGTAGGAAAGACAGGCATGATGAAAGTTGAGAAACAGTGATTTCCGTCTCAGGCCCATGCCCTGCCCTGTCTGCTGGTCCTGCAGCTCATGGTGGACACCAAAGGGGGAGCTGAAGGAGGCAGATCCTTCCACTGGGCTTCAGGTTCCAAAGCGGGTAGCCGAGCAGGGTCACCCCTCCTTCACAAGGCCCCATCGGGCCGCCCTGATGGCCTCTCCCTCTCCTTCCCTGTGTAGAAGAGATCGTCGCGCATGCCAGCAACGTGTCCTCACTGGTGCTGGGCAAAGCCTCCGGGCGGCTGCTGGCTACAGGCGGGGATGACTGCCGCGTCAACCTGTGGTCCATCAACAAGCCCAACTGCATCATGGTGAGCCCCGACAGCTGGCGGGGGGTCAGGACAAGGGCCTGGGGAGGGGACGGGGACAGGGGTTGGAGGCTGAAGAGTGAGCAGCTTCTCAGACTCTCTTGAGCCCAGGGCCCCCTATCCGCTGGGGCCCAGCTCAGGGGTGGAGGGGGCGTGGTGGGGACACCATCAGTGCTTCCCCCAGCTGTCTGCTCAGTGAGGCCCAGGACAGCCCAGCATGGCTGGGACAGTGGCCAGCCCTCAGGAGCGAGGGAGTCACCTGCCTGTGGTACTATTAAGAACTCCAGGCAGGCTGCGTGAGAAGATTAAAATAAGCCCTGGGCCTGTGGTTGAGCCAAAAGACTTGTACCCCTCCCCTCCCACCTGCCCATCTGCCTGCCTGGCAGCAACATGTGGGCGTTTATTTTAATTCATTCCCAGCCTTCATTCCCCAATGAGGATTTGAGGGGACCTGGCTGGAGCTGGTTAGGGAGCTAGTTCTTAAATAGCATCTCCCCACTATTTATGCAGCTATATGTTCAATGCTGGAAACTGTTTTCCAAATAGGAGTGCATAAAGGAGAAAACACAAAATTAACTACATATAGTTCCGTTATCCAAAGGCCACCACAGTTGGTGTTTTGGTGTGAGTCCTTCTAGATGCTGAGACAGATACATATACGTGTACATGCACGTAAGTGCACACTTGTACATGCATGTACACATGTATACACACAAATACTCATACAAGCACACACACATAAATAAAAATACACTGCCACTCTTGTGCAGCCTGGTTTTTAAAAATAACAATGTTGTAAGGATTTGCCTGTGTCAACAAGTATTCTTTTACAACATAATTTTGAATGGCTTAATGGTGTTCCATTGTAGGGATGAGCCGTAATTAGCTTAGCCACACCCTGTTATCAGCAGAGAGGTTGTTTCCGGCTTTTTTTGGCTCTGCTAAAGCACCCTGTGGTGAACATCCTCAGCCACCTAGATCCTTGAGCAGATCCGTGATCACTGCATTCAATCCAAGGGTGTGTGCTTTTGTTAAAGCTTTCAAAACAGATTGCCAAATTGCCCCCCAGAAATCATTTTACATTCTCACCAGCAGCATCGGAACCTGCCCTTTCCTCCCTGCCCCAACCCCCATCCCTTGCCAACCAGGGAGTATCATTGTTGTGACTCTTGGTGAAATAAAGATGAAGAGGAATAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTGGATCACCTGAAGTCAGGAGTTTGAGACCGCCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACGGAGGTTGCAGTAAGCCGAGATGGTGCCACTGCACTCCAGGCTGGGTGATAGAGCAAGATTCCATCTCAAAAGAAAAAGAAAAAGAATATGGCAAAGGATGAATTTCTTAGTAGAAACTTAATCACCTCAGTGTTTTTCTGAGATCCAGGGGGAGAACTGAGATCCACCCCAGCCTCAGCAAGGGTGCCAGGGGTCAGTAATGATGAATTGAATTGTTTTGTTTTACTTTGTTTCTAGGATTCAAATGTGTTTTCTACCCCCATGAAATGCCAAAGTAGTAGCATACACAAGTTGAAAAAGCATCACCAATGACTGACCAAAAATAGGACATGCCACGACCCCCAGAGAAACGGGGCCAACCGTCTGGGGCCTGGCCTGCAGGCTTGTTTTAGAACGCCAGGTGCAGCTGTCAGGCCCCAGCCGGCCTCACCCCGGGCCCCTGCCCTGGCTCACACACACCAGCCTCCCAGGCCTCGCAGTGCCTCCAGCCTGCCGGGGTCTCTCTCCCCTTGGGGTTTCTGTGCACGCTGTCCCCCTGCAGGCCGTCCACTTGGATTTATTTTTA
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GAGGGGAGTGATGTGGGCTCCTCCAGAAGGGCCCAACTTCTAAATCTTTCTCACTCCAAAGTCTGCGGTTTTGCCAGCTCAGTGTCCCGCCCCCACCACCATCTGATTATACTGGGGCATATTTCGTGCAAGGCCTAGAACAGGCACCCAGGAAATACTGATATTATGAATGAATGCCCCTGACTCCAGGGGCAGCAGTCCTGAGGCCCAGTGAGGTGGGGCCCAGCCAGACACTTTCCCTGGGAGGAGTGAGGGCCAGGGGACAGACAGAGCCCTCCAGGTAGGCCAGGGGGAGCGAGCAGTGCCTCCACGGAGAGGACACCAGGCTCGGGCACGGAATGCCAGGGAGAAGGTGCTTTGCCCTCTTTCTGGGTCAGGTGGAAACCTTGAACAGACACGTCTGTGGCTGGAATTCCTCAGGTTTCTGTCCCGACAGTGTCCAGAGGACAGAAGGCTCTCATCGAGACGGGACTAAAGTGGGGCCCAGCTCCCTGGGATCCCCATGGCGAACTCCCAGCGCCCTGGCCCAGGTTTGGGCCCACAGGGAACCCTCGCCCTTGCTGGCGCTGCTGCCTGTGCTGGCTCTGCCCCGACCGGCCCAGGAGGCAGGGTGTCATCAGTGAGATTCAGCCTGCGACTTGTCCCCTGGGTATTCCTGGTGGCCCCTTGGAGCCCAGGTTTCTGGCAAGCAGCTTCCCTGGGCCCAGTTTCCCAACCTCCTTGTGGTCTGAAGCCCGCAGCAGAGACACCCAGGCAGGGTGGAGTCGGAGCTGGGGTGCAGGAGGGGCCTCTGTGGAGCGCCGTGGCTCCAACACCCTTTTCCTTGGCGTCACCCACGCTGGCCTTCCGGGTGCCTCGGGGCGTCAGCACCTTGGGGTTTTCCCCTGGCCTGTGTGGGGAGAACTGTCTTTTTTCTCCCTTCTTTCCAGGAGGAGCTCATGCAGGGATGGGTTCTGAGGCCCGGGCCGCCTCTTGGTTCCCTGCCTGTGCTTTGCTCCCTGCGGAGTCCTCCGAGGCTCCTGTCTGCCATCTCCACGGACCAGGCCAGGGCCTTGGGCTGTCTGCACAGGCTCCTCCTCTGTGTGGTCAGCCCTCACCCCCACCCCAGCTGCTCAGTCTGTTGCCTCCTGCCCCCTCCTCATGAAGCCCACCCTCTGGTGCCCGCCCAGGCCCCCATGCCCACTCTCTCATGGTGACTAGCCCCGAGCCTGCCCAATGTCACGGAGCCCTCGCCTGCTACTAAGCAGCACGTAGGCGCGCTCTGAGGGAGTCCTCAGCATCAGGTGTGAGCAGACACCACGGGCATCCCCACTTTCCAGACGAGGAGCCAGGCCCTCAGAGGACAAGTGACCTAGTAGCCAAGGCCACGCAATAGCAGATCACAGACCTCAGACCAGAACCTGATCCGTGATTGTGAATCTGAGCCGAAGCCCTGTGCAGGCTTACCTGGGGGCAGCTTGTCTAGAGGTGACTTCGGTTGTTCTTAAAGTGTGTTCTCCAAAGCAGGGTTTGTATGTACACACAAGCAGCAGCTGAGAGGTGTGTAGGCAGTGCATGGGTCAATTTTTTTTATTTCAATAATTGTTTTTCTTTTTGTATCATAGAAAGAGTATCATGAGTATATCAAACTTGTAATTTCATGGACATTGCTTAAGCCCAAGCTAATAAAAATAGCAAGTCAATTTTAAAAATTGCGTATAACTAGTCAATATTACCAGGTGATATGCAGAAACAGGAAGAAAATCGTGAAGTCTAAAGGTAGGAAAGACAGGCATGATGAAAGTTGAGAAACAGTGATTTCCGTCTCAGGCCCATGCCCTGCCCTGTCTGCTGGTCCTGCAGCTCATGGTGGACACCAAAGGGGGAGCTGAAGGAGGCAGATCCTTCCACTGGGCTTCAGGTTCCAAAGCGGGTAGCCGAGCAGGGTCACCCCTCCTTCACAAGGCCCCATCGGGCCGCCCTGATGGCCTCTCCCTCTCCTTCCCTGTGTAGAAGAGATCGTCGCGCATGCCAGCAACGTGTCCTCACTGGTGCTGGGCAAAGCCTCCTGGCGGCTGCTGGCTACAGGCGGGGATGACTGCCGCGTCAACCTGTGGTCCATCAACAAGCCCAACTGCATCATGGTGAGCCCCGACAGCTGGCGGGGGGTCAGGACAAGGGCCTGGGGAGGGGACGGGGACAGGGGTTGGAGGCTGAAGAGTGAGCAGCTTCTCAGACTCTCTTGAGCCCAGGGCCCCCTATCCGCTGGGGCCCAGCTCAGGGGTGGAGGGGGCGTGGTGGGGACACCATCAGTGCTTCCCCCAGCTGTCTGCTCAGTGAGGCCCAGGACAGCCCAGCATGGCTGGGACAGTGGCCAGCCCTCAGGAGCGAGGGAGTCACCTGCCTGTGGTACTATTAAGAACTCCAGGCAGGCTGCGTGAGAAGATTAAAATAAGCCCTGGGCCTGTGGTTGAGCCAAAAGACTTGTACCCCTCCCCTCCCACCTGCCCATCTGCCTGCCTGGCAGCAACATGTGGGCGTTTATTTTAATTCATTCCCAGCCTTCATTCCCCAATGAGGATTTGAGGGGACCTGGCTGGAGCTGGTTAGGGAGCTAGTTCTTAAATAGCATCTCCCCACTATTTATGCAGCTATATGTTCAATGCTGGAAACTGTTTTCCAAATAGGAGTGCATAAAGGAGAAAACACAAAATTAACTACATATAGTTCCGTTATCCAAAGGCCACCACAGTTGGTGTTTTGGTGTGAGTCCTTCTAGATGCTGAGACAGATACATATACGTGTACATGCACGTAAGTGCACACTTGTACATGCATGTACACATGTATACACACAAATACTCATACAAGCACACACACATAAATAAAAATACACTGCCACTCTTGTGCAGCCTGGTTTTTAAAAATAACAATGTTGTAAGGATTTGCCTGTGTCAACAAGTATTCTTTTACAACATAATTTTGAATGGCTTAATGGTGTTCCATTGTAGGGATGAGCCGTAATTAGCTTAGCCACACCCTGTTATCAGCAGAGAGGTTGTTTCCGGCTTTTTTTGGCTCTGCTAAAGCACCCTGTGGTGAACATCCTCAGCCACCTAGATCCTTGAGCAGATCCGTGATCACTGCATTCAATCCAAGGGTGTGTGCTTTTGTTAAAGCTTTCAAAACAGATTGCCAAATTGCCCCCCAGAAATCATTTTACATTCTCACCAGCAGCATCGGAACCTGCCCTTTCCTCCCTGCCCCAACCCCCATCCCTTGCCAACCAGGGAGTATCATTGTTGTGACTCTTGGTGAAATAAAGATGAAGAGGAATAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTGGATCACCTGAAGTCAGGAGTTTGAGACCGCCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACGGAGGTTGCAGTAAGCCGAGATGGTGCCACTGCACTCCAGGCTGGGTGATAGAGCAAGATTCCATCTCAAAAGAAAAAGAAAAAGAATATGGCAAAGGATGAATTTCTTAGTAGAAACTTAATCACCTCAGTGTTTTTCTGAGATCCAGGGGGAGAACTGAGATCCACCCCAGCCTCAGCAAGGGTGCCAGGGGTCAGTAATGATGAATTGAATTGTTTTGTTTTACTTTGTTTCTAGGATTCAAATGTGTTTTCTACCCCCATGAAATGCCAAAGTAGTAGCATACACAAGTTGAAAAAGCATCACCAATGACTGACCAAAAATAGGACATGCCACGACCCCCAGAGAAACGGGGCCAACCGTCTGGGGCCTGGCCTGCAGGCTTGTTTTAGAACGCCAGGTGCAGCTGTCAGGCCCCAGCCGGCCTCACCCCGGGCCCCTGCCCTGGCTCACACACACCAGCCTCCCAGGCCTCGCAGTGCCTCCAGCCTGCCGGGGTCTCTCTCCCCTTGGGGTTTCTGTGCACGCTGTCCCCCTGCAGGCCGTCCACTTGGATTTATTTTTA
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Task1_train_22756
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Here is a variant affecting KATNB1 (katanin regulatory subunit B1) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Lissencephaly 6 with microcephaly
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GTCTGCAGCCGCATGCCTGGGAGCTACCCTCCGTCCCCCGCACTCTGGACAGGGCCCTGGGTCCCAGGTGGCCTGGCCAGGAGCGCTCACAGCCAGGGGCCTCTTTCCTCTGCAGGTCGGACGCCACCCCGGAGAAGTGAGCCCTTCCCTGCACCCCCAGAGGACGGTGAGTTGGGTGAGCCTGGTTTCCCAAGGTCTCTGATGCCCCCCCGTCCCTCATCTTCTCTTCCTGTGAACCCTCCCAACAAGCCCCTTCCCAGGACCCTCCCCTCTCAGGACACGACCCACACCCTCTCCCGCTGGGTCTCTGCCCTCTGCCTGTTATGTGCCAGGTCCCTGCAAGACCGATAGTGCCCCCGTAGGAGCCTGTGCCCTGGTGTGTGGGGGACAAACATGGACACCACCACACTGGGGGGCCTGCCAGGGGCACTCGGGCTGTGGAGGATGGAGAGGAGTCACTGGGGGCCCACCTTAGATGGGGTCTGCTGTAGACGGGATGATCGGGAGGCTCTCAGGAGGCCCAATGCCTGTCAAGGCCTGGGGGCCAGTGAGAAGAGAGAGAGAGAAGTGCTTCTGGCAGGAAGGGAGCTGAGAGGAGGTGAGCTGGGGCGAGTCCCAGCAAGAGGTCAGGCCCACAAGGCCTCAGCTGGGGGTTTGGATTAAGAAGGGAGAAAAATGATCTGCACTGTGGTTGGAGAACGGGCAGGCATGGGGCCACCTGTCCTGTAGAGTACCCCTGCCCTCCCCTCAGGGACCGTCCTTGCCGTCAGTCCTGGCTTTCCTAGGAGCCTCCACTTCCATCTTGCCAGTCATCCCAGCCCCCTCCACATACATGCCAGTGAAGGGACAGGATGGCCACATCCTAGAGCCCCCTGGGTCCCACCCACAGGCAGACCTAAGGTTGAGTTGGGGGAGAGGGAGGAGGCAGGTCCAGGCCTGCCCCAGGTCCTCTGGAACCCCCACGCCACTGGCCTGCAGCCTCCCCCATGCTCCTGCTCCATCCCCCCATTGCAGATGCTGCCCAGAGTCCCGCCCTGAGCCCTGCCCTTCTTGCCAGGCCCTTCTGGCCGGACCCAGTCATCTTTTCCTTTTGCCTCCAGACGCAGCCACAGCAAAGGAGGCAGCAAAGCCCAGCCCTGCCATGGATGTGCAGTTCCCGGTGCCAAATGTATGTCCATGGAGGGAGCATGGTGTGGGGCCTAGAGAAGGTCCTGACCCAGGGTTGGGGGTGCCTCGGGAGGCAGAGAGGGAGGCCCCAGGCCGGCAACCGCTGAGTTTCACACTTTCAGCTGGAGGTCCTGCCCCGGCCCCCAGTGGTTGCTTCCACACCTGCACCCAAGGCTGAGCCTGCCATCATCCCTGCCACCCGGAACGAGCCCATCGGGCTGAAGGCCTCCGACTTCCTGCCCGTGAGTAGGAGCCCAGCTCGAGGCATGGGTGGAGGTCTGTGGGTGGAGGGCAGAGCTTTGCTGCTGGCTCCTCCCATGCCAGCATCTGGGTGTCCATCCCACGCAGGCCGTGAAGATCCCCCAGCAGGCCGAGCTGGTGGACGAGGATGCCATGTCACAGATCCGCAAAGGCCACGACACCATGTGTGTGGTGCTCACCAGCCGCCACAAGAACCTGGACACTGTGCGGGCTGTGTGGACCATGGGCGACATCAAGGCAAGTGCCCACCCTTGCACAGGGCCTCATCTCGCCCCCCTGCCCCTGCCACCTGCCTGCCCGGGCTTGGGGCAGAACAAGAAGAGGCCACCCATGGGGGACAGTGTGGGATAGGCCATCCCTGACGTCACACCATCTGTTTCCGCCATCATCATCATCATCACAGACTGCCGTTTAGTGAGCATCTGTTTACATGCCTGGCCTTACACTCATTGCGTTAGGTGCAGTGCTGAATACCCACAGCCCCATCAGCACACCCACATTCACGTTCGTACCCCCACCCTCACCCTCACAGGGCCACACTGTCCCCCACTGCCCCACCCCTGACGGTGCTCTGTTTGCACAGACGTCGGTGGACTCCGCTGTGGCCATCAACGACCTGTCGGTGGTGGTGGACCTCCTGAACATCGTCAACCAGAAAGCGTAAGTGGCTGCAGAGGGGGAGTGGGCGGAGGGGCAGGGCTGGGCTGATGGCAGCATGTCCTGGCCTCTCCTAGCTCCCTGTGGAAGCTGGACCTGTGCACCACCGTCCTGCCACAGATTGAGAAGCTTCTGCAGAGCAAGTATGAGAGGTGCGTGTGGGGAAGCCATGCCTGCCTGAAGCAGGGGGAGGGGAGAGGTAAGAAGCCTCCTCCAGAACCATGGGAAGGACCCCCAAGAGCCTGGGTGTTCCTGTGAGCTGGCTGTGAAGCATTGCTGCCCCTCAACAGTCCGGAGGTGGGAGTGGAAACAGGCGTGTGTGGGTGTATGTGTGGGTGTGTCTGTGTCTGTTTCTGCCCCTCTCCTCCTTTGTTCCTTGCTGTTTCTCTTTCTGTCTGTGGCCCTTGGTCCATCTGTGACTTCATCCATCTCCCCCTAAAGCTACGTCCAGACGGGCTGCACCTCCCTGAAGCTGATCCTGCAGCGGTTTCTGCCCCTCATCACAGACATGCTGGCGGCCCCACCCTCTGTGGGTGTGGATATCAGCAGGGAGGAGAGGTGAGGGCAGCGCATGTGTTGGGGGCAGGGGTGCCACAACAGGTGAGGGGACAAAGGCCTGGAGGCCTGGGCCCCTCTTACTGACAGTCCTGCTGGGACAGAGTACAGAGGAGGCGTTGGTCTGGGGCCATGGCTCAGGGTGTGGGTGGGCTTAGCCAGAGCTGGGTTCCTCCATGGCCTGGCTGTGCCCACAATCCCTGGCAGGGCCTGGGTGGTTCCCCTCTGGGCCTCCGCCTTCCCTTGGGAGGAAGGGCTGGAGCAGTTAGGACAGCAAAGGCCCTGGGGTTGGGTGTGGGTGGTGGTGGTGCCAGCTAGCCCCTCAGGCACTGCCCTCTCTACAGGCTGCATAAGTGCCGGCTCTGCTACAAGCAGCTTAAGAGCATCAGCGGCCTGGTCAAGAGCAAGTCAGGCCTGAGCGGCCGCCATGGCAGTACCTTCCGCGAGCTGCACCTGCTCATGGCCAGTCTGGACTGAGGAAAGCAGTGGGCAGGGGCGCTCGGCAGCCCACAGGGCCTGGCCTCAGCCCCCACTCCTGTTCCTTGTGCACCCACTGGCCCATGAGCCTCTGCCTGGCCCCTGCTGCTGTCCTGTGGCCGTCCTGGAGGAGGTGATGCTGGTCCCTGGCCACCTCTACAGCCCTGAACTCTTGAGACAACTCTCTCCAGCAATAGCTGCCCAGCTTTGCCCAACTGTTGCTTCTTGGGGCAGCGAACTGAGCCCTGGGGCTGCTGCTGTAATTTATAAGGCAAATTTTATTAAATTTGTAACTATTCCCAGGTTTCCTTGTGGGGAATGTTTTCTGCTGGCCACAGGGCTCCCCGGGCCCAGGAGTGCCTGCCCCATGGTTTGAGATGAGGCCACACCCCCTCCAAGCCCGGGGGTGGGGCTCTGGGCCATGTGGCCAGCAGGGGGCAGCAGAGAATCAGGCCTCTGGGACAGCACCAGTTCAGCCAGTGCAGACTGGGAAGGAAGGGGAGGCGGCAACCACCCTTCCACCACTGGGTGTTGAGGTTAGGGGTGGCCCCCACCAGCCCGTTCCTCCCCACCTCAGCTACACTCAAGCTGTCTTATGGACACCCCCAGGATGCCTCCAGGGGCAGGACTAGAAGGGCACCTGCCCCTTCCTCTGAGCAGGGCTCCGATCAGCTGTCACTCCCTGCTGGAGTCCCCAGCACTGGCTGGCGGGAAAGGGCTCCCTGCTCCGTGGGCACTGCGACAGGTGGGCCCCCTCCTGCTCCCAAGGCAGGGACCAGGTACAGCCCCGCCCCGGGGTGGTCAGGGTCCTCGGCACTGGAGGAAGGTGGCGTGGACCTCTGGCCAGTTCACTGAAGAGGGAAAAGGCCAGGGCAAAGAGTGGGCAGTGGGTGGTGCCCAGCAGTAACCTGGAAGCCCAGCATGGTTTGGGCAAGGCTTTGATAGCCTTTGAAGCTCTCTCCAGCCTTAGTTTCCTTCC
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GTCTGCAGCCGCATGCCTGGGAGCTACCCTCCGTCCCCCGCACTCTGGACAGGGCCCTGGGTCCCAGGTGGCCTGGCCAGGAGCGCTCACAGCCAGGGGCCTCTTTCCTCTGCAGGTCGGACGCCACCCCGGAGAAGTGAGCCCTTCCCTGCACCCCCAGAGGACGGTGAGTTGGGTGAGCCTGGTTTCCCAAGGTCTCTGATGCCCCCCCGTCCCTCATCTTCTCTTCCTGTGAACCCTCCCAACAAGCCCCTTCCCAGGACCCTCCCCTCTCAGGACACGACCCACACCCTCTCCCGCTGGGTCTCTGCCCTCTGCCTGTTATGTGCCAGGTCCCTGCAAGACCGATAGTGCCCCCGTAGGAGCCTGTGCCCTGGTGTGTGGGGGACAAACATGGACACCACCACACTGGGGGGCCTGCCAGGGGCACTCGGGCTGTGGAGGATGGAGAGGAGTCACTGGGGGCCCACCTTAGATGGGGTCTGCTGTAGACGGGATGATCGGGAGGCTCTCAGGAGGCCCAATGCCTGTCAAGGCCTGGGGGCCAGTGAGAAGAGAGAGAGAGAAGTGCTTCTGGCAGGAAGGGAGCTGAGAGGAGGTGAGCTGGGGCGAGTCCCAGCAAGAGGTCAGGCCCACAAGGCCTCAGCTGGGGGTTTGGATTAAGAAGGGAGAAAAATGATCTGCACTGTGGTTGGAGAACGGGCAGGCATGGGGCCACCTGTCCTGTAGAGTACCCCTGCCCTCCCCTCAGGGACCGTCCTTGCCGTCAGTCCTGGCTTTCCTAGGAGCCTCCACTTCCATCTTGCCAGTCATCCCAGCCCCCTCCACATACATGCCAGTGAAGGGACAGGATGGCCACATCCTAGAGCCCCCTGGGTCCCACCCACAGGCAGACCTAAGGTTGAGTTGGGGGAGAGGGAGGAGGCAGGTCCAGGCCTGCCCCAGGTCCTCTGGAACCCCCACGCCACTGGCCTGCAGCCTCCCCCATGCTCCTGCTCCATCCCCCCATTGCAGATGCTGCCCAGAGTCCCGCCCTGAGCCCTGCCCTTCTTGCCAGGCCCTTCTGGCCGGACCCAGTCATCTTTTCCTTTTGCCTCCAGACGCAGCCACAGCAAAGGAGGCAGCAAAGCCCAGCCCTGCCATGGATGTGCAGTTCCCGGTGCCAAATGTATGTCCATGGAGGGAGCATGGTGTGGGGCCTAGAGAAGGTCCTGACCCAGGGTTGGGGGTGCCTCGGGAGGCAGAGAGGGAGGCCCCAGGCCGGCAACCGCTGAGTTTCACACTTTCAGCTGGAGGTCCTGCCCCGGCCCCCAGTGGTTGCTTCCACACCTGCACCCAAGGCTGAGCCTGCCATCATCCCTGCCACCCGGAACGAGCCCATCGGGCTGAAGGCCTCCGACTTCCTGCCCGTGAGTAGGAGCCCAGCTCGAGGCATGGGTGGAGGTCTGTGGGTGGAGGGCAGAGCTTTGCTGCTGGCTCCTCCCATGCCAGCATCTGGGTGTCCATCCCACGCAGGCCGTGAAGATCCCCCAGCAGGCCGAGCTGGTGGACGAGGATGCCATGTCACAGATCCGCAAAGGCCACGACACCATGTGTGTGGTGCTCACCAGCCGCCACAAGAACCTGGACACTGTGCGGGCTGTGTGGACCATGGGCGACATCAAGGCAAGTGCCCACCCTTGCACAGGGCCTCATCTCGCCCCCCTGCCCCTGCCACCTGCCTGCCCGGGCTTGGGGCAGAACAAGAAGAGGCCACCCATGGGGGACAGTGTGGGATAGGCCATCCCTGACGTCACACCATCTGTTTCCGCCATCATCATCATCATCACAGACTGCCGTTTAGTGAGCATCTGTTTACATGCCTGGCCTTACACTCATTGCGTTAGGTGCAGTGCTGAATACCCACAGCCCCATCAGCACACCCACATTCACGTTCGTACCCCCACCCTCACCCTCACAGGGCCACACTGTCCCCCACTGCCCCACCCCTGACGGTGCTCTGTTTGCACAGACGTCGGTGGACTCCGCTGTGGCCATCAACGACCTGTTGGTGGTGGTGGACCTCCTGAACATCGTCAACCAGAAAGCGTAAGTGGCTGCAGAGGGGGAGTGGGCGGAGGGGCAGGGCTGGGCTGATGGCAGCATGTCCTGGCCTCTCCTAGCTCCCTGTGGAAGCTGGACCTGTGCACCACCGTCCTGCCACAGATTGAGAAGCTTCTGCAGAGCAAGTATGAGAGGTGCGTGTGGGGAAGCCATGCCTGCCTGAAGCAGGGGGAGGGGAGAGGTAAGAAGCCTCCTCCAGAACCATGGGAAGGACCCCCAAGAGCCTGGGTGTTCCTGTGAGCTGGCTGTGAAGCATTGCTGCCCCTCAACAGTCCGGAGGTGGGAGTGGAAACAGGCGTGTGTGGGTGTATGTGTGGGTGTGTCTGTGTCTGTTTCTGCCCCTCTCCTCCTTTGTTCCTTGCTGTTTCTCTTTCTGTCTGTGGCCCTTGGTCCATCTGTGACTTCATCCATCTCCCCCTAAAGCTACGTCCAGACGGGCTGCACCTCCCTGAAGCTGATCCTGCAGCGGTTTCTGCCCCTCATCACAGACATGCTGGCGGCCCCACCCTCTGTGGGTGTGGATATCAGCAGGGAGGAGAGGTGAGGGCAGCGCATGTGTTGGGGGCAGGGGTGCCACAACAGGTGAGGGGACAAAGGCCTGGAGGCCTGGGCCCCTCTTACTGACAGTCCTGCTGGGACAGAGTACAGAGGAGGCGTTGGTCTGGGGCCATGGCTCAGGGTGTGGGTGGGCTTAGCCAGAGCTGGGTTCCTCCATGGCCTGGCTGTGCCCACAATCCCTGGCAGGGCCTGGGTGGTTCCCCTCTGGGCCTCCGCCTTCCCTTGGGAGGAAGGGCTGGAGCAGTTAGGACAGCAAAGGCCCTGGGGTTGGGTGTGGGTGGTGGTGGTGCCAGCTAGCCCCTCAGGCACTGCCCTCTCTACAGGCTGCATAAGTGCCGGCTCTGCTACAAGCAGCTTAAGAGCATCAGCGGCCTGGTCAAGAGCAAGTCAGGCCTGAGCGGCCGCCATGGCAGTACCTTCCGCGAGCTGCACCTGCTCATGGCCAGTCTGGACTGAGGAAAGCAGTGGGCAGGGGCGCTCGGCAGCCCACAGGGCCTGGCCTCAGCCCCCACTCCTGTTCCTTGTGCACCCACTGGCCCATGAGCCTCTGCCTGGCCCCTGCTGCTGTCCTGTGGCCGTCCTGGAGGAGGTGATGCTGGTCCCTGGCCACCTCTACAGCCCTGAACTCTTGAGACAACTCTCTCCAGCAATAGCTGCCCAGCTTTGCCCAACTGTTGCTTCTTGGGGCAGCGAACTGAGCCCTGGGGCTGCTGCTGTAATTTATAAGGCAAATTTTATTAAATTTGTAACTATTCCCAGGTTTCCTTGTGGGGAATGTTTTCTGCTGGCCACAGGGCTCCCCGGGCCCAGGAGTGCCTGCCCCATGGTTTGAGATGAGGCCACACCCCCTCCAAGCCCGGGGGTGGGGCTCTGGGCCATGTGGCCAGCAGGGGGCAGCAGAGAATCAGGCCTCTGGGACAGCACCAGTTCAGCCAGTGCAGACTGGGAAGGAAGGGGAGGCGGCAACCACCCTTCCACCACTGGGTGTTGAGGTTAGGGGTGGCCCCCACCAGCCCGTTCCTCCCCACCTCAGCTACACTCAAGCTGTCTTATGGACACCCCCAGGATGCCTCCAGGGGCAGGACTAGAAGGGCACCTGCCCCTTCCTCTGAGCAGGGCTCCGATCAGCTGTCACTCCCTGCTGGAGTCCCCAGCACTGGCTGGCGGGAAAGGGCTCCCTGCTCCGTGGGCACTGCGACAGGTGGGCCCCCTCCTGCTCCCAAGGCAGGGACCAGGTACAGCCCCGCCCCGGGGTGGTCAGGGTCCTCGGCACTGGAGGAAGGTGGCGTGGACCTCTGGCCAGTTCACTGAAGAGGGAAAAGGCCAGGGCAAAGAGTGGGCAGTGGGTGGTGCCCAGCAGTAACCTGGAAGCCCAGCATGGTTTGGGCAAGGCTTTGATAGCCTTTGAAGCTCTCTCCAGCCTTAGTTTCCTTCC
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Task1_train_22757
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With a mutation on Chromosome 16 in gene KATNB1 (katanin regulatory subunit B1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Lissencephaly 6 with microcephaly
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CCTGGGAGCTACCCTCCGTCCCCCGCACTCTGGACAGGGCCCTGGGTCCCAGGTGGCCTGGCCAGGAGCGCTCACAGCCAGGGGCCTCTTTCCTCTGCAGGTCGGACGCCACCCCGGAGAAGTGAGCCCTTCCCTGCACCCCCAGAGGACGGTGAGTTGGGTGAGCCTGGTTTCCCAAGGTCTCTGATGCCCCCCCGTCCCTCATCTTCTCTTCCTGTGAACCCTCCCAACAAGCCCCTTCCCAGGACCCTCCCCTCTCAGGACACGACCCACACCCTCTCCCGCTGGGTCTCTGCCCTCTGCCTGTTATGTGCCAGGTCCCTGCAAGACCGATAGTGCCCCCGTAGGAGCCTGTGCCCTGGTGTGTGGGGGACAAACATGGACACCACCACACTGGGGGGCCTGCCAGGGGCACTCGGGCTGTGGAGGATGGAGAGGAGTCACTGGGGGCCCACCTTAGATGGGGTCTGCTGTAGACGGGATGATCGGGAGGCTCTCAGGAGGCCCAATGCCTGTCAAGGCCTGGGGGCCAGTGAGAAGAGAGAGAGAGAAGTGCTTCTGGCAGGAAGGGAGCTGAGAGGAGGTGAGCTGGGGCGAGTCCCAGCAAGAGGTCAGGCCCACAAGGCCTCAGCTGGGGGTTTGGATTAAGAAGGGAGAAAAATGATCTGCACTGTGGTTGGAGAACGGGCAGGCATGGGGCCACCTGTCCTGTAGAGTACCCCTGCCCTCCCCTCAGGGACCGTCCTTGCCGTCAGTCCTGGCTTTCCTAGGAGCCTCCACTTCCATCTTGCCAGTCATCCCAGCCCCCTCCACATACATGCCAGTGAAGGGACAGGATGGCCACATCCTAGAGCCCCCTGGGTCCCACCCACAGGCAGACCTAAGGTTGAGTTGGGGGAGAGGGAGGAGGCAGGTCCAGGCCTGCCCCAGGTCCTCTGGAACCCCCACGCCACTGGCCTGCAGCCTCCCCCATGCTCCTGCTCCATCCCCCCATTGCAGATGCTGCCCAGAGTCCCGCCCTGAGCCCTGCCCTTCTTGCCAGGCCCTTCTGGCCGGACCCAGTCATCTTTTCCTTTTGCCTCCAGACGCAGCCACAGCAAAGGAGGCAGCAAAGCCCAGCCCTGCCATGGATGTGCAGTTCCCGGTGCCAAATGTATGTCCATGGAGGGAGCATGGTGTGGGGCCTAGAGAAGGTCCTGACCCAGGGTTGGGGGTGCCTCGGGAGGCAGAGAGGGAGGCCCCAGGCCGGCAACCGCTGAGTTTCACACTTTCAGCTGGAGGTCCTGCCCCGGCCCCCAGTGGTTGCTTCCACACCTGCACCCAAGGCTGAGCCTGCCATCATCCCTGCCACCCGGAACGAGCCCATCGGGCTGAAGGCCTCCGACTTCCTGCCCGTGAGTAGGAGCCCAGCTCGAGGCATGGGTGGAGGTCTGTGGGTGGAGGGCAGAGCTTTGCTGCTGGCTCCTCCCATGCCAGCATCTGGGTGTCCATCCCACGCAGGCCGTGAAGATCCCCCAGCAGGCCGAGCTGGTGGACGAGGATGCCATGTCACAGATCCGCAAAGGCCACGACACCATGTGTGTGGTGCTCACCAGCCGCCACAAGAACCTGGACACTGTGCGGGCTGTGTGGACCATGGGCGACATCAAGGCAAGTGCCCACCCTTGCACAGGGCCTCATCTCGCCCCCCTGCCCCTGCCACCTGCCTGCCCGGGCTTGGGGCAGAACAAGAAGAGGCCACCCATGGGGGACAGTGTGGGATAGGCCATCCCTGACGTCACACCATCTGTTTCCGCCATCATCATCATCATCACAGACTGCCGTTTAGTGAGCATCTGTTTACATGCCTGGCCTTACACTCATTGCGTTAGGTGCAGTGCTGAATACCCACAGCCCCATCAGCACACCCACATTCACGTTCGTACCCCCACCCTCACCCTCACAGGGCCACACTGTCCCCCACTGCCCCACCCCTGACGGTGCTCTGTTTGCACAGACGTCGGTGGACTCCGCTGTGGCCATCAACGACCTGTCGGTGGTGGTGGACCTCCTGAACATCGTCAACCAGAAAGCGTAAGTGGCTGCAGAGGGGGAGTGGGCGGAGGGGCAGGGCTGGGCTGATGGCAGCATGTCCTGGCCTCTCCTAGCTCCCTGTGGAAGCTGGACCTGTGCACCACCGTCCTGCCACAGATTGAGAAGCTTCTGCAGAGCAAGTATGAGAGGTGCGTGTGGGGAAGCCATGCCTGCCTGAAGCAGGGGGAGGGGAGAGGTAAGAAGCCTCCTCCAGAACCATGGGAAGGACCCCCAAGAGCCTGGGTGTTCCTGTGAGCTGGCTGTGAAGCATTGCTGCCCCTCAACAGTCCGGAGGTGGGAGTGGAAACAGGCGTGTGTGGGTGTATGTGTGGGTGTGTCTGTGTCTGTTTCTGCCCCTCTCCTCCTTTGTTCCTTGCTGTTTCTCTTTCTGTCTGTGGCCCTTGGTCCATCTGTGACTTCATCCATCTCCCCCTAAAGCTACGTCCAGACGGGCTGCACCTCCCTGAAGCTGATCCTGCAGCGGTTTCTGCCCCTCATCACAGACATGCTGGCGGCCCCACCCTCTGTGGGTGTGGATATCAGCAGGGAGGAGAGGTGAGGGCAGCGCATGTGTTGGGGGCAGGGGTGCCACAACAGGTGAGGGGACAAAGGCCTGGAGGCCTGGGCCCCTCTTACTGACAGTCCTGCTGGGACAGAGTACAGAGGAGGCGTTGGTCTGGGGCCATGGCTCAGGGTGTGGGTGGGCTTAGCCAGAGCTGGGTTCCTCCATGGCCTGGCTGTGCCCACAATCCCTGGCAGGGCCTGGGTGGTTCCCCTCTGGGCCTCCGCCTTCCCTTGGGAGGAAGGGCTGGAGCAGTTAGGACAGCAAAGGCCCTGGGGTTGGGTGTGGGTGGTGGTGGTGCCAGCTAGCCCCTCAGGCACTGCCCTCTCTACAGGCTGCATAAGTGCCGGCTCTGCTACAAGCAGCTTAAGAGCATCAGCGGCCTGGTCAAGAGCAAGTCAGGCCTGAGCGGCCGCCATGGCAGTACCTTCCGCGAGCTGCACCTGCTCATGGCCAGTCTGGACTGAGGAAAGCAGTGGGCAGGGGCGCTCGGCAGCCCACAGGGCCTGGCCTCAGCCCCCACTCCTGTTCCTTGTGCACCCACTGGCCCATGAGCCTCTGCCTGGCCCCTGCTGCTGTCCTGTGGCCGTCCTGGAGGAGGTGATGCTGGTCCCTGGCCACCTCTACAGCCCTGAACTCTTGAGACAACTCTCTCCAGCAATAGCTGCCCAGCTTTGCCCAACTGTTGCTTCTTGGGGCAGCGAACTGAGCCCTGGGGCTGCTGCTGTAATTTATAAGGCAAATTTTATTAAATTTGTAACTATTCCCAGGTTTCCTTGTGGGGAATGTTTTCTGCTGGCCACAGGGCTCCCCGGGCCCAGGAGTGCCTGCCCCATGGTTTGAGATGAGGCCACACCCCCTCCAAGCCCGGGGGTGGGGCTCTGGGCCATGTGGCCAGCAGGGGGCAGCAGAGAATCAGGCCTCTGGGACAGCACCAGTTCAGCCAGTGCAGACTGGGAAGGAAGGGGAGGCGGCAACCACCCTTCCACCACTGGGTGTTGAGGTTAGGGGTGGCCCCCACCAGCCCGTTCCTCCCCACCTCAGCTACACTCAAGCTGTCTTATGGACACCCCCAGGATGCCTCCAGGGGCAGGACTAGAAGGGCACCTGCCCCTTCCTCTGAGCAGGGCTCCGATCAGCTGTCACTCCCTGCTGGAGTCCCCAGCACTGGCTGGCGGGAAAGGGCTCCCTGCTCCGTGGGCACTGCGACAGGTGGGCCCCCTCCTGCTCCCAAGGCAGGGACCAGGTACAGCCCCGCCCCGGGGTGGTCAGGGTCCTCGGCACTGGAGGAAGGTGGCGTGGACCTCTGGCCAGTTCACTGAAGAGGGAAAAGGCCAGGGCAAAGAGTGGGCAGTGGGTGGTGCCCAGCAGTAACCTGGAAGCCCAGCATGGTTTGGGCAAGGCTTTGATAGCCTTTGAAGCTCTCTCCAGCCTTAGTTTCCTTCCCATCAGTAACATGGA
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CCTGGGAGCTACCCTCCGTCCCCCGCACTCTGGACAGGGCCCTGGGTCCCAGGTGGCCTGGCCAGGAGCGCTCACAGCCAGGGGCCTCTTTCCTCTGCAGGTCGGACGCCACCCCGGAGAAGTGAGCCCTTCCCTGCACCCCCAGAGGACGGTGAGTTGGGTGAGCCTGGTTTCCCAAGGTCTCTGATGCCCCCCCGTCCCTCATCTTCTCTTCCTGTGAACCCTCCCAACAAGCCCCTTCCCAGGACCCTCCCCTCTCAGGACACGACCCACACCCTCTCCCGCTGGGTCTCTGCCCTCTGCCTGTTATGTGCCAGGTCCCTGCAAGACCGATAGTGCCCCCGTAGGAGCCTGTGCCCTGGTGTGTGGGGGACAAACATGGACACCACCACACTGGGGGGCCTGCCAGGGGCACTCGGGCTGTGGAGGATGGAGAGGAGTCACTGGGGGCCCACCTTAGATGGGGTCTGCTGTAGACGGGATGATCGGGAGGCTCTCAGGAGGCCCAATGCCTGTCAAGGCCTGGGGGCCAGTGAGAAGAGAGAGAGAGAAGTGCTTCTGGCAGGAAGGGAGCTGAGAGGAGGTGAGCTGGGGCGAGTCCCAGCAAGAGGTCAGGCCCACAAGGCCTCAGCTGGGGGTTTGGATTAAGAAGGGAGAAAAATGATCTGCACTGTGGTTGGAGAACGGGCAGGCATGGGGCCACCTGTCCTGTAGAGTACCCCTGCCCTCCCCTCAGGGACCGTCCTTGCCGTCAGTCCTGGCTTTCCTAGGAGCCTCCACTTCCATCTTGCCAGTCATCCCAGCCCCCTCCACATACATGCCAGTGAAGGGACAGGATGGCCACATCCTAGAGCCCCCTGGGTCCCACCCACAGGCAGACCTAAGGTTGAGTTGGGGGAGAGGGAGGAGGCAGGTCCAGGCCTGCCCCAGGTCCTCTGGAACCCCCACGCCACTGGCCTGCAGCCTCCCCCATGCTCCTGCTCCATCCCCCCATTGCAGATGCTGCCCAGAGTCCCGCCCTGAGCCCTGCCCTTCTTGCCAGGCCCTTCTGGCCGGACCCAGTCATCTTTTCCTTTTGCCTCCAGACGCAGCCACAGCAAAGGAGGCAGCAAAGCCCAGCCCTGCCATGGATGTGCAGTTCCCGGTGCCAAATGTATGTCCATGGAGGGAGCATGGTGTGGGGCCTAGAGAAGGTCCTGACCCAGGGTTGGGGGTGCCTCGGGAGGCAGAGAGGGAGGCCCCAGGCCGGCAACCGCTGAGTTTCACACTTTCAGCTGGAGGTCCTGCCCCGGCCCCCAGTGGTTGCTTCCACACCTGCACCCAAGGCTGAGCCTGCCATCATCCCTGCCACCCGGAACGAGCCCATCGGGCTGAAGGCCTCCGACTTCCTGCCCGTGAGTAGGAGCCCAGCTCGAGGCATGGGTGGAGGTCTGTGGGTGGAGGGCAGAGCTTTGCTGCTGGCTCCTCCCATGCCAGCATCTGGGTGTCCATCCCACGCAGGCCGTGAAGATCCCCCAGCAGGCCGAGCTGGTGGACGAGGATGCCATGTCACAGATCCGCAAAGGCCACGACACCATGTGTGTGGTGCTCACCAGCCGCCACAAGAACCTGGACACTGTGCGGGCTGTGTGGACCATGGGCGACATCAAGGCAAGTGCCCACCCTTGCACAGGGCCTCATCTCGCCCCCCTGCCCCTGCCACCTGCCTGCCCGGGCTTGGGGCAGAACAAGAAGAGGCCACCCATGGGGGACAGTGTGGGATAGGCCATCCCTGACGTCACACCATCTGTTTCCGCCATCATCATCATCATCACAGACTGCCGTTTAGTGAGCATCTGTTTACATGCCTGGCCTTACACTCATTGCGTTAGGTGCAGTGCTGAATACCCACAGCCCCATCAGCACACCCACATTCACGTTCGTACCCCCACCCTCACCCTCACAGGGCCACACTGTCCCCCACTGCCCCACCCCTGACGGTGCTCTGTTTGCACAGACGTCGGTGGACTCCGCTGTGGCCATCAACGACCTGTCGGTGGTGGTGGACCGCCTGAACATCGTCAACCAGAAAGCGTAAGTGGCTGCAGAGGGGGAGTGGGCGGAGGGGCAGGGCTGGGCTGATGGCAGCATGTCCTGGCCTCTCCTAGCTCCCTGTGGAAGCTGGACCTGTGCACCACCGTCCTGCCACAGATTGAGAAGCTTCTGCAGAGCAAGTATGAGAGGTGCGTGTGGGGAAGCCATGCCTGCCTGAAGCAGGGGGAGGGGAGAGGTAAGAAGCCTCCTCCAGAACCATGGGAAGGACCCCCAAGAGCCTGGGTGTTCCTGTGAGCTGGCTGTGAAGCATTGCTGCCCCTCAACAGTCCGGAGGTGGGAGTGGAAACAGGCGTGTGTGGGTGTATGTGTGGGTGTGTCTGTGTCTGTTTCTGCCCCTCTCCTCCTTTGTTCCTTGCTGTTTCTCTTTCTGTCTGTGGCCCTTGGTCCATCTGTGACTTCATCCATCTCCCCCTAAAGCTACGTCCAGACGGGCTGCACCTCCCTGAAGCTGATCCTGCAGCGGTTTCTGCCCCTCATCACAGACATGCTGGCGGCCCCACCCTCTGTGGGTGTGGATATCAGCAGGGAGGAGAGGTGAGGGCAGCGCATGTGTTGGGGGCAGGGGTGCCACAACAGGTGAGGGGACAAAGGCCTGGAGGCCTGGGCCCCTCTTACTGACAGTCCTGCTGGGACAGAGTACAGAGGAGGCGTTGGTCTGGGGCCATGGCTCAGGGTGTGGGTGGGCTTAGCCAGAGCTGGGTTCCTCCATGGCCTGGCTGTGCCCACAATCCCTGGCAGGGCCTGGGTGGTTCCCCTCTGGGCCTCCGCCTTCCCTTGGGAGGAAGGGCTGGAGCAGTTAGGACAGCAAAGGCCCTGGGGTTGGGTGTGGGTGGTGGTGGTGCCAGCTAGCCCCTCAGGCACTGCCCTCTCTACAGGCTGCATAAGTGCCGGCTCTGCTACAAGCAGCTTAAGAGCATCAGCGGCCTGGTCAAGAGCAAGTCAGGCCTGAGCGGCCGCCATGGCAGTACCTTCCGCGAGCTGCACCTGCTCATGGCCAGTCTGGACTGAGGAAAGCAGTGGGCAGGGGCGCTCGGCAGCCCACAGGGCCTGGCCTCAGCCCCCACTCCTGTTCCTTGTGCACCCACTGGCCCATGAGCCTCTGCCTGGCCCCTGCTGCTGTCCTGTGGCCGTCCTGGAGGAGGTGATGCTGGTCCCTGGCCACCTCTACAGCCCTGAACTCTTGAGACAACTCTCTCCAGCAATAGCTGCCCAGCTTTGCCCAACTGTTGCTTCTTGGGGCAGCGAACTGAGCCCTGGGGCTGCTGCTGTAATTTATAAGGCAAATTTTATTAAATTTGTAACTATTCCCAGGTTTCCTTGTGGGGAATGTTTTCTGCTGGCCACAGGGCTCCCCGGGCCCAGGAGTGCCTGCCCCATGGTTTGAGATGAGGCCACACCCCCTCCAAGCCCGGGGGTGGGGCTCTGGGCCATGTGGCCAGCAGGGGGCAGCAGAGAATCAGGCCTCTGGGACAGCACCAGTTCAGCCAGTGCAGACTGGGAAGGAAGGGGAGGCGGCAACCACCCTTCCACCACTGGGTGTTGAGGTTAGGGGTGGCCCCCACCAGCCCGTTCCTCCCCACCTCAGCTACACTCAAGCTGTCTTATGGACACCCCCAGGATGCCTCCAGGGGCAGGACTAGAAGGGCACCTGCCCCTTCCTCTGAGCAGGGCTCCGATCAGCTGTCACTCCCTGCTGGAGTCCCCAGCACTGGCTGGCGGGAAAGGGCTCCCTGCTCCGTGGGCACTGCGACAGGTGGGCCCCCTCCTGCTCCCAAGGCAGGGACCAGGTACAGCCCCGCCCCGGGGTGGTCAGGGTCCTCGGCACTGGAGGAAGGTGGCGTGGACCTCTGGCCAGTTCACTGAAGAGGGAAAAGGCCAGGGCAAAGAGTGGGCAGTGGGTGGTGCCCAGCAGTAACCTGGAAGCCCAGCATGGTTTGGGCAAGGCTTTGATAGCCTTTGAAGCTCTCTCCAGCCTTAGTTTCCTTCCCATCAGTAACATGGA
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Task1_train_22758
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A variant affecting Chromosome 16, within the gene CNGB1 (cyclic nucleotide gated channel subunit beta 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Retinitis pigmentosa 45
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AAAAGTGCCCACTGGCCAAACTGGACTAATTTGAGCATCAAAATAATGATTGTTAACAGAGTATTCATGGAATCAAGTAAATCCATGCCTATATACATTGAGAAATGAATAAACAAATGGGAGAGAAGAGAAAGCTCTTCCACACAGCTGACTGCCAGCTAATAATCAAGGAGGGAGTGGAGTTACAAAATTTCCATTTTACAACTATCATAGCAATCTCTTTGTAACTATCATAGGGAGGAACCATCAAAGGATGCTAAAAGCAGTGGGTAAAAGTTTGACAGGGAACAGGATATCCTCATAGTCTGAAGGTGACTACCCACTAATTACTTAGGAATTAGGTTTAAGGGAAAATAGGTTTACAATACAGAAACCTTAACCAAGTAATCAAAGTAAAAATCATCGATATTGGGAGTAAATGGCATCGTGCGCCTCTCGATACATTTGCTGCAGAAGCGACTCACTTCTGAGTTCTTCCTGCCAAAAATGCACACTCTAATGGTAATCACGAGAAAACATCAGACAAACCCCAACTGAGGGGCATTCTGTAAAATAACTGGCCTGTATGGGCTGGGTGCAATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGGGGGTGGATCACGATGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACGGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAATAACTGGCCTATATGCTTAAAAGAAGTCCAAGTCACTAAAGGTTGGAAAAGCCTGAGGAACTATCCCAGATCAAGGAAGACTAAGAATACTCTGCACCTTAATTACAATATGTGATCCTAGACCTGATTCAGGAATGGAAAAGAAGAAAAGGTACAAAGGATACTCTTAAAGAATTAGCAAAATCTGAAGATGGATTGTGAATGAGATAATAGTGTTGTTTCAATACGAAATTTCCTTATTTTAATGAAGGTACTAGGCCAGGCGCAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGTCAGAGCAGATCATGTGAGCCCAGGAGTTTGATACCAGCCTAGGCAACATAGTGAGACCCCAGCTCTAGAAAAAAATTTTAAAAATTAGCTGGGAATGGTGGTACGTGCCTATAGTCCCAGCTACATGGGAGGCTGAGGCAGGAGGATCACTTGAACCTAGGAGGTTGAGACTGTAGTGAGTCATGATCACTCCACTGCACTCCAGACTGGGTGACAGAGCAAGATGTCATCTCAAAAAAAAAAAAAAAAAGATAAAGGTACTGTGGTTATGTAAGAGAAATTCATTGTCCTTAGCAATTTTTTATTAAACGAAAGAAAAGTTACATACCTGGCTTTCTTCCGGAGTAACTTCTGAGACTCAGGATAATGCACCAAAATCTCATTCAGGTCCTTCTTATCCAGGATGAAGAGGTTGGTAAACCCGTGCGCCACCACGTTGGCCGTGCGCCGGTTCCCGCCCCCAACAGCCAGCAAGCTGGGGCAGAGAAGGGAGGAAGGAGGCCCTTCAGAGACTGCCGTTTCGGTCACATTCAGATCTTCATTTCCCATGTGTGGAGGACAGTGGTGGCCCCACACAGATGAGAACCTTCCCCCGCCCCCATCCCCGCATACATCAGCAGGTGCCAGTGCTGCATCTACCAAGCCGTAGACACTCGCACTGCCCGCTGGCCGCCTTCTTTCCCAGCCCTTGCCCCAGGCCCCTCACTTTACCCCAGCTGCGTCTGACCTTATTTCTCCAAACACAGATCCAGCTTTCAGCGTCACCAGCACAGATTTCCCATCAGGGCCGCCCAAGACCTGCACTTGCCCTGCCTGGATGATGTACATCTCACGGCCGATCTCCCCCTGAAACAAAGAAGTGACAAGTCCCTCTGTTCATCCCCCAAAGTCACCAGAGAAGCAGCCAGGGCTGGATCCAGAGGCTGGAGGTCCGGCAAGGAGGAACCTAGGCACTGGGGTCCAGCCCTGCCACCACAACTTGGGGTGTCGTGTGGGGGCAGTCACTTCCCTCTCAGGCCTCAGTCACCCCATCTGTAGACTTGGAGGAGTGACTACCCCATGCCCTCCATAACTGACAGGGTTGCAGTGGGGGAGTTAGTGATGTCATGGAATGGGAAGTGCCAGCTAACCTGGGAGGTGCAGGTATAATGGAATTCTGCAAATTCCAGTTAGACTCACTGATGGAGGCAGGGCAAATCAGATAGCAGCTCCCACCATCAAATGATGTCTACACCTGGCACATCTCAGGGGCTCGGGAAGAATTTGCTAACTGCAACAGGAATGGGAACAACAATAACGATAATATTCAAATTGCCTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTTGTGCTTCAGCCTCCCAAACAGCTGCGATTACAGGCATCATGCTTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGTGCCACCATGCCCGGCAAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCCAAATTGCTTTATGCAGTGTACTACTTATCCTCAACAACCCTCAGAGTCGAGATCACTCTTTGCCCAAGAGCTGGGATCTGAACCCAGACAGTCTGGTTCCAGAGTTCATGGTTGTTATGGGTTGAATTATGTACTCCCTCCCAAATTCATATATTGAAATCCTCATCCCCAGCATCTCAGAATGTGACCTTATTTGGGAATAGGGTCATTGCAGATGTAATTCCTAAAGATGAGGTCCTTCTAGACCTAATCCAATATGACTGGTGTCCTAACAAAAGGGAAATGTGGACACAAAGACAGGCATAGAGACCAGAGGATGTGAGGAGACACAAAAAAAACTAGATGACCACCTACAAGCTGAGGAGAGAAGCCACCCAGCTTGTGGTGGAGTTGCACAGTGTCCCGCGGCAGCCTGGAGAATGAATACAATGGCCTTAATCCCAAGTTAAACCGAATGCATGCATGAATGAATAGCTTGCTTTGGACTGCAATTAGAAACACCTAGTCTGCCATGCGCCTTCCAATCCTCATGCCTTCACCGGCCCTTGTCCTGGCCAGCTACCTGTGAGTCACATGTGTTTAAAAGGGGAAGAGGAGGTCTACAGAAAAAAAAAATAATAATAATAATAATTAAAAAGGGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCGGGCACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGCAAAACCCTGTCTTGACTAAAAATAAAAAAATGAGCCGGGCATGGTGGCATATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGTGAAATGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCACCCTGGGAGAGAGAGTGGGACTTGGTCTCAAATAAACAAACAAACAAACAAATAAATAAATAAGGGGTGGGGGGAGTGACCAAGGACAGTAACTGTCACACTTTTGACTTATTTGACAAAAATTTCCTGTGCATTTCACACATGCATGACCCCCTTAACAAAAAGGTAGAGAGGTTTGCCTCCATGTTTCTGTTTAGTTTGACAAGAGTGAAAGGGTGAAGGGACCCTCACCTCAGTAACCAGTCCCCGGGGTGTCTCAGAGAGATCGCTGCCGAGCAAAACCAGACAGCAGAGGGCGCCCTTCACACGTGCTCACCAAGTGCTCAATTTAATTTGCAATCACAGACTCT
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AAAAGTGCCCACTGGCCAAACTGGACTAATTTGAGCATCAAAATAATGATTGTTAACAGAGTATTCATGGAATCAAGTAAATCCATGCCTATATACATTGAGAAATGAATAAACAAATGGGAGAGAAGAGAAAGCTCTTCCACACAGCTGACTGCCAGCTAATAATCAAGGAGGGAGTGGAGTTACAAAATTTCCATTTTACAACTATCATAGCAATCTCTTTGTAACTATCATAGGGAGGAACCATCAAAGGATGCTAAAAGCAGTGGGTAAAAGTTTGACAGGGAACAGGATATCCTCATAGTCTGAAGGTGACTACCCACTAATTACTTAGGAATTAGGTTTAAGGGAAAATAGGTTTACAATACAGAAACCTTAACCAAGTAATCAAAGTAAAAATCATCGATATTGGGAGTAAATGGCATCGTGCGCCTCTCGATACATTTGCTGCAGAAGCGACTCACTTCTGAGTTCTTCCTGCCAAAAATGCACACTCTAATGGTAATCACGAGAAAACATCAGACAAACCCCAACTGAGGGGCATTCTGTAAAATAACTGGCCTGTATGGGCTGGGTGCAATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGGGGGTGGATCACGATGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACGGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAATAACTGGCCTATATGCTTAAAAGAAGTCCAAGTCACTAAAGGTTGGAAAAGCCTGAGGAACTATCCCAGATCAAGGAAGACTAAGAATACTCTGCACCTTAATTACAATATGTGATCCTAGACCTGATTCAGGAATGGAAAAGAAGAAAAGGTACAAAGGATACTCTTAAAGAATTAGCAAAATCTGAAGATGGATTGTGAATGAGATAATAGTGTTGTTTCAATACGAAATTTCCTTATTTTAATGAAGGTACTAGGCCAGGCGCAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGTCAGAGCAGATCATGTGAGCCCAGGAGTTTGATACCAGCCTAGGCAACATAGTGAGACCCCAGCTCTAGAAAAAAATTTTAAAAATTAGCTGGGAATGGTGGTACGTGCCTATAGTCCCAGCTACATGGGAGGCTGAGGCAGGAGGATCACTTGAACCTAGGAGGTTGAGACTGTAGTGAGTCATGATCACTCCACTGCACTCCAGACTGGGTGACAGAGCAAGATGTCATCTCAAAAAAAAAAAAAAAAAGATAAAGGTACTGTGGTTATGTAAGAGAAATTCATTGTCCTTAGCAATTTTTTATTAAACGAAAGAAAAGTTACATACCTGGCTTTCTTCCGGAGTAACTTCTGAGACTCAGGATAATGCACCAAAATCTCATTCAGGTCCTTCTTATCCAGGATGAAGAGGTTGGTAAACCCGTGCGCCACCACGTTGGCCGTGCGCCGGTTCCCGCCCCCAACAGCCAGCAAGCTGGGGCAGAGAAGGGAGGAAGGAGGCCCTTCAGAGACTGCCGTTTCGGTCACATTCAGATCTTCATTTCCCATGTGTGGAGGACAGTGGTGGCCCCACACAGATGAGAACCTTCCCCCGCCCCCATCCCCGCATACATCAGCAGGTGCCAGTGCTGCATCTACCAAGCCGTAGACACTCGCACTGCCCGCTGGCCGCCTTCTTTCCCAGCCCTTGCCCCAGGCCCCTCACTTTACCCCAGCTGCGTCTGACCTTATTTCTCCAAACACAGATCCAGCTTTCAGCGTCACCAGCACAGATTTCCCATCAGGGCCGCCCAAGACCTGCACTTGCCCTGCCTGGATGATGTACATCTCACGGCCGATCTCCACCTGAAACAAAGAAGTGACAAGTCCCTCTGTTCATCCCCCAAAGTCACCAGAGAAGCAGCCAGGGCTGGATCCAGAGGCTGGAGGTCCGGCAAGGAGGAACCTAGGCACTGGGGTCCAGCCCTGCCACCACAACTTGGGGTGTCGTGTGGGGGCAGTCACTTCCCTCTCAGGCCTCAGTCACCCCATCTGTAGACTTGGAGGAGTGACTACCCCATGCCCTCCATAACTGACAGGGTTGCAGTGGGGGAGTTAGTGATGTCATGGAATGGGAAGTGCCAGCTAACCTGGGAGGTGCAGGTATAATGGAATTCTGCAAATTCCAGTTAGACTCACTGATGGAGGCAGGGCAAATCAGATAGCAGCTCCCACCATCAAATGATGTCTACACCTGGCACATCTCAGGGGCTCGGGAAGAATTTGCTAACTGCAACAGGAATGGGAACAACAATAACGATAATATTCAAATTGCCTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTTGTGCTTCAGCCTCCCAAACAGCTGCGATTACAGGCATCATGCTTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGTGCCACCATGCCCGGCAAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCCAAATTGCTTTATGCAGTGTACTACTTATCCTCAACAACCCTCAGAGTCGAGATCACTCTTTGCCCAAGAGCTGGGATCTGAACCCAGACAGTCTGGTTCCAGAGTTCATGGTTGTTATGGGTTGAATTATGTACTCCCTCCCAAATTCATATATTGAAATCCTCATCCCCAGCATCTCAGAATGTGACCTTATTTGGGAATAGGGTCATTGCAGATGTAATTCCTAAAGATGAGGTCCTTCTAGACCTAATCCAATATGACTGGTGTCCTAACAAAAGGGAAATGTGGACACAAAGACAGGCATAGAGACCAGAGGATGTGAGGAGACACAAAAAAAACTAGATGACCACCTACAAGCTGAGGAGAGAAGCCACCCAGCTTGTGGTGGAGTTGCACAGTGTCCCGCGGCAGCCTGGAGAATGAATACAATGGCCTTAATCCCAAGTTAAACCGAATGCATGCATGAATGAATAGCTTGCTTTGGACTGCAATTAGAAACACCTAGTCTGCCATGCGCCTTCCAATCCTCATGCCTTCACCGGCCCTTGTCCTGGCCAGCTACCTGTGAGTCACATGTGTTTAAAAGGGGAAGAGGAGGTCTACAGAAAAAAAAAATAATAATAATAATAATTAAAAAGGGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCGGGCACATCACCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGCAAAACCCTGTCTTGACTAAAAATAAAAAAATGAGCCGGGCATGGTGGCATATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGTGAAATGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCACCCTGGGAGAGAGAGTGGGACTTGGTCTCAAATAAACAAACAAACAAACAAATAAATAAATAAGGGGTGGGGGGAGTGACCAAGGACAGTAACTGTCACACTTTTGACTTATTTGACAAAAATTTCCTGTGCATTTCACACATGCATGACCCCCTTAACAAAAAGGTAGAGAGGTTTGCCTCCATGTTTCTGTTTAGTTTGACAAGAGTGAAAGGGTGAAGGGACCCTCACCTCAGTAACCAGTCCCCGGGGTGTCTCAGAGAGATCGCTGCCGAGCAAAACCAGACAGCAGAGGGCGCCCTTCACACGTGCTCACCAAGTGCTCAATTTAATTTGCAATCACAGACTCT
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Task1_train_22759
|
This variant impacts the gene CNGB1 (cyclic nucleotide gated channel subunit beta 1) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Retinal dystrophy
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ACATGCCCAGCTAAATTTTTTGACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATGGGGTGTGCAATGCCCTGAGAGAAAGCGAGGAGAGAGGAGAGAGAGAGGGAAGGAGGGAGAGAGAGGAAGGGAGGGAGGAAGGGACAGAAAGTCCTTCTTCCTTTTTTTTTTTTTTTTTTCAATTTAAACTGCACTTCGGCCTCACACCTGTAATCCCAGCACTTTGGGAGCCCGAGGCTGGCTAATCACCTGAGGTCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAATAATATAAAAATGAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCGGGAGATGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATGTCAAATAAATAAATAAATAAACAAACACACAAACAAACTACACTTCGCTCTTGGATGGGGATGCATTTCAAGGTGGGTAAAGTGAGGGGGGCAGGCACACAGAAGACAAGCCCCCCGTCTCCAGGGATCTCATGACAGCCCTGCTAGAGGCACTTCAGGGGCCCCACTGGGCACCTCTCACACCAATGTTGGGGACACAGCCAAGACAGGCCCCAGTACTCGGGACCTCAGAGACACAGAGGACGAGGGAGGCGCCCCGAAGGCATGGCACCGGGCACCAGGCGACAGGAGTTGACTGGGAGCTGGTGGCTGCCAGGGCGTGACCATCTTACCCAGCATGCCTTGCGAGTGCCAGGTGTACTCGTACCAGGTCTTGACGCGGTTCTGCACGGACTTGGGGATCTTGTAGAAATTCATGTACTTCACCGTGCTGTCCATGCAGCTGCGGTAGTAGGTCTGTCCGGCGGTGGCGGCCCCTACCACATCTCTCATCTGGGGGAAGGGTTATGGGAGGTCAAGGAAGCCACTGGGTCATTGGGGGTGGGCGCTATTCCATGGATTTGGGATGTGTCACTTCACACAGACCACGGGCATGTGCTCCTGGCAGGGCGTTGGGAGGGGGGTAGGCAGATGTCCTCACACAGAGAAAGTTTTACTGACGGGAAGTTCTGCCTCCAGCATGGATGTGGGGAAGAGGAAGGGAGGGAGACTGCCAGCCCCTTGGTGGCCTCAGGTCCCTGGGACCACACCATGGGGGAAAGCTCCTTGGGCTGGGCTGATTCTGGTACAATACAGTTCCTCGGTGACGGCGGCCATGTTGTCTGACTCCATGCTGGAGGAAATAGGAAGCCAGTGTGCTGTTCCTCGGGGCGGGGCCCTTCAAATATAAATTTGAGAACCTCTGACTGTCACCTCATGTCTCGACCAGAATGTAAGATGCTGCCCTGGCACACCAGAAACACCAGGGGCTTCTCCCTCGGTCTCTGCAGAAAACCATTCAGCCCAGTGCACCCGGAGGAACTGACATTTCAAATGATAATGACCTCAGAGAGGGAATAGGGCCGAGTTCACCACCACCCCCTTCACCGCGCAGGGACCAGTGCTCCAGGCTCCTGACTCTCAGTCTAGTGCCCTTTCCCAGGCTTAATCCAAAAGCAACGGGCACAGAGGGTGACATTTCTGGCAACAGTGGGAGGGGGCCCTGCAGTCAGGTGGGGTGGGAAGCTGGGCTGGTGCCCCGATACCTGTCCGATCATCACAGAGAAAGCAAAGACGCCCGTGAAATAATTCAGCAGCTGGAAGACAATTTCAAAGAGTGTCTTGGGGTCAGGCAGCCCCCCGATGGTGATGAGGGTCTTCACAGCAAAGTAGTAACAGCGAATATAACTGGAGAGAGAGGAGAAAGGGAACATGGGTCATCACAGGCCCCACTCTGCCGCCCCGAGCAGTCTGGCTCAGACGCCTCTGATAGATGCATGTTGTGCAAAAGACAGAAACCCTTTACAGCTCATCTATGCAAGGAAAACCACCTCCTGCACGTGTAGAGCACGTTGCCGTTTGCAGAGCAGGTTCACAAATGCTATCGGGTATGGTTGTGTCTCTAGGGACATGTTGCCATCCCCATTTACAGATATGGAAACTGAGGCTCCAGGGGATTTCCAGGAAGAGTTGGCAGGAGGCCAGACCAGGGTCTTCCAACTCCTAATGACCGCACTCCCTCAATTTCCTTCAGTGTTCCTTCAATTTTCAGTCTTTTCATTTGCTATCTCCTGCCATATTGGCTTATGAAAAGCAAAAGCAACATCAAGTTTGGACGATATCTTGAGGATGACTTTTTCTGACCCGCCCCTACCCGGCCCATCCATTTTCCAGAGAGTGAAACTGAGGCCCCCAAAGGGAAAGGGCACACCCGTGGTCACTAGTTGGTAAGTACAAGAGCTGGGCGCTGTCTGCTTCTCTAAGATGTCATCCACCAGCAGTAACCCTCTGACGTCGGCTTGTGAACCTTCTGGAAGGGAGGTATGGGGGAGGGTGTCCTACTGTGTGGTAAAAGGCATAGGAAATGCCCCAAGTGCTCCAGTCTGAATGTGTCCCCCGAAATTCAGGCATTGGAAACTTAATTCCCAGTGCAATGGTGTCAGGAGCTAGGGCCTTCGGGCGCCGTTTAGGCTGCGAGGGCTTTGCCCTCATGAATAGATTAAAGCTGTTACAAAAGGTTCTGGTGGAGGGTTTCCACTTCCTTTGGCCCTTCTGCCTTCTTCCATACGAGGACAGCATTCCTCTCCTCTAGTGGACACTGTGGCCTTCAAGACATTGTCTTGGAAGCAGAGAGCAGCCCTCACCAGATGCCAGCACCTTGATCTTGGACTTCCCAGCTTCCAGCACAGTGAAAAATAAGTTTCTGTTCTTTATAAGTTACCCAGTCTCATGTATTTTACTACAGCAGCTCAAAAGGCATGAAGACACCAAGCTTGTGTGTGATTATCACAGAGCAGCAAGGGTCCCTCTGACACCTGTCCACACCTCAGGCTGAGCCCTCCCCTGGGTCAGCAAAGGTGAGGTCAGAAGGGCCTAGACACTGGGCAGTCCCTGCCGGCTTTCCTGCAGCAGCTATTTATGCAGTGTCCTAGATAGAACATGGGCTCTGGACCAGGCTGGCTGGGCTCAGCCATTCGGCTCAGCCACCTTCTGGCTGCATAACTTGGACAAATCTCTCTCTCTCTCTCTCCAAGCCTCAGTTTCCTTCTCCATAAGATGGGGATGGCAATAGAATGTCCCTTACAGAAGACCATGAAGACAAAATGAGGTGCTAGAAGAAGCCTGGCACGTGGTGGACTCTCAGCAAGGGAGCTGTCAAAGCCTTCACAGCCACTGTTGCCTGCCCTGGGGAACTGAACAGATTCGCCCATATCCTCAAGAAGCTCGTGGTCCAGTGAGGGGACAGGCAGGTGACGTGCAATGCGTGCAGGAAGGAGGAAGCAGAGGTTGCTGGGGAGTGTGGTAGGGGCTCTGCCTCTGATAGCTGCGGGGCCTTGGGCAGGGCTGTGGGCCGCCCTGCACCTCCACATCACCTGTTGCCTGCAAGTTTCAGAACCCAAAACGGGCCTGTCAAGCCCCCGTCATACTGGTTCTGGCCATCAGAGGGCACGCGAAGCAGCGTTTAGCGGGACGGAGCAGCACCCCCAACTCTGCAGACCCCTCGGCTGTCCGGGAGCTGGGTGCTTATGCCGCTGGGCCACCAACAGAGAGAGGACATAGGCGCGATGTCCACAAAGCTCTGGCTTTACCCCAAACCCTTCCTAGCTGGAGGAATCTTCCAATGACATGCCACATCTTAGGGGCCTCCCTGAAGTCTCCTTGTCCTTGTCTGT
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ACATGCCCAGCTAAATTTTTTGACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATGGGGTGTGCAATGCCCTGAGAGAAAGCGAGGAGAGAGGAGAGAGAGAGGGAAGGAGGGAGAGAGAGGAAGGGAGGGAGGAAGGGACAGAAAGTCCTTCTTCCTTTTTTTTTTTTTTTTTTCAATTTAAACTGCACTTCGGCCTCACACCTGTAATCCCAGCACTTTGGGAGCCCGAGGCTGGCTAATCACCTGAGGTCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAATAATATAAAAATGAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCGGGAGATGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATGTCAAATAAATAAATAAATAAACAAACACACAAACAAACTACACTTCGCTCTTGGATGGGGATGCATTTCAAGGTGGGTAAAGTGAGGGGGGCAGGCACACAGAAGACAAGCCCCCCGTCTCCAGGGATCTCATGACAGCCCTGCTAGAGGCACTTCAGGGGCCCCACTGGGCACCTCTCACACCAATGTTGGGGACACAGCCAAGACAGGCCCCAGTACTCGGGACCTCAGAGACACAGAGGACGAGGGAGGCGCCCCGAAGGCATGGCACCGGGCACCAGGCGACAGGAGTTGACTGGGAGCTGGTGGCTGCCAGGGCGTGACCATCTTACCCAGCATGCCTTGCGAGTGCCAGGTGTACTCGTACCAGGTCTTGACGCGGTTCTGCACGGACTTGGGGATCTTGTAGAAATTCATGTACTTCACCGTGCTGTCCATGCAGCTGCGGTAGTAGGTCTGTCCGGCGGTGGCGGCCCCTACCACATCTCTCATCTGGGGGAAGGGTTATGGGAGGTCAAGGAAGCCACTGGGTCATTGGGGGTGGGCGCTATTCCATGGATTTGGGATGTGTCACTTCACACAGACCACGGGCATGTGCTCCTGGCAGGGCGTTGGGAGGGGGGTAGGCAGATGTCCTCACACAGAGAAAGTTTTACTGACGGGAAGTTCTGCCTCCAGCATGGATGTGGGGAAGAGGAAGGGAGGGAGACTGCCAGCCCCTTGGTGGCCTCAGGTCCCTGGGACCACACCATGGGGGAAAGCTCCTTGGGCTGGGCTGATTCTGGTACAATACAGTTCCTCGGTGACGGCGGCCATGTTGTCTGACTCCATGCTGGAGGAAATAGGAAGCCAGTGTGCTGTTCCTCGGGGCGGGGCCCTTCAAATATAAATTTGAGAACCTCTGACTGTCACCTCATGTCTCGACCAGAATGTAAGATGCTGCCCTGGCACACCAGAAACACCAGGGGCTTCTCCCTCGGTCTCTGCAGAAAACCATTCAGCCCAGTGCACCCGGAGGAACTGACATTTCAAATGATAATGACCTCAGAGAGGGAATAGGGCCGAGTTCACCACCACCCCCTTCACCGCGCAGGGACCAGTGCTCCAGGCTCCTGACTCTCAGTCTAGTGCCCTTTCCCAGGCTTAATCCAAAAGCAACGGGCACAGAGGGTGACATTTCTGGCAACAGTGGGAGGGGGCCCTGCAGTCAGGTGGGGTGGGAAGCTGGGCTGGTGCCCCGATACCTGTCCGATCATCACAGAGAAAGCAAAGACGCCCGTGAAATAATTCAGCAGCTGGAAGACAATTTCAAAGAGTGTCTTGAGGTCAGGCAGCCCCCCGATGGTGATGAGGGTCTTCACAGCAAAGTAGTAACAGCGAATATAACTGGAGAGAGAGGAGAAAGGGAACATGGGTCATCACAGGCCCCACTCTGCCGCCCCGAGCAGTCTGGCTCAGACGCCTCTGATAGATGCATGTTGTGCAAAAGACAGAAACCCTTTACAGCTCATCTATGCAAGGAAAACCACCTCCTGCACGTGTAGAGCACGTTGCCGTTTGCAGAGCAGGTTCACAAATGCTATCGGGTATGGTTGTGTCTCTAGGGACATGTTGCCATCCCCATTTACAGATATGGAAACTGAGGCTCCAGGGGATTTCCAGGAAGAGTTGGCAGGAGGCCAGACCAGGGTCTTCCAACTCCTAATGACCGCACTCCCTCAATTTCCTTCAGTGTTCCTTCAATTTTCAGTCTTTTCATTTGCTATCTCCTGCCATATTGGCTTATGAAAAGCAAAAGCAACATCAAGTTTGGACGATATCTTGAGGATGACTTTTTCTGACCCGCCCCTACCCGGCCCATCCATTTTCCAGAGAGTGAAACTGAGGCCCCCAAAGGGAAAGGGCACACCCGTGGTCACTAGTTGGTAAGTACAAGAGCTGGGCGCTGTCTGCTTCTCTAAGATGTCATCCACCAGCAGTAACCCTCTGACGTCGGCTTGTGAACCTTCTGGAAGGGAGGTATGGGGGAGGGTGTCCTACTGTGTGGTAAAAGGCATAGGAAATGCCCCAAGTGCTCCAGTCTGAATGTGTCCCCCGAAATTCAGGCATTGGAAACTTAATTCCCAGTGCAATGGTGTCAGGAGCTAGGGCCTTCGGGCGCCGTTTAGGCTGCGAGGGCTTTGCCCTCATGAATAGATTAAAGCTGTTACAAAAGGTTCTGGTGGAGGGTTTCCACTTCCTTTGGCCCTTCTGCCTTCTTCCATACGAGGACAGCATTCCTCTCCTCTAGTGGACACTGTGGCCTTCAAGACATTGTCTTGGAAGCAGAGAGCAGCCCTCACCAGATGCCAGCACCTTGATCTTGGACTTCCCAGCTTCCAGCACAGTGAAAAATAAGTTTCTGTTCTTTATAAGTTACCCAGTCTCATGTATTTTACTACAGCAGCTCAAAAGGCATGAAGACACCAAGCTTGTGTGTGATTATCACAGAGCAGCAAGGGTCCCTCTGACACCTGTCCACACCTCAGGCTGAGCCCTCCCCTGGGTCAGCAAAGGTGAGGTCAGAAGGGCCTAGACACTGGGCAGTCCCTGCCGGCTTTCCTGCAGCAGCTATTTATGCAGTGTCCTAGATAGAACATGGGCTCTGGACCAGGCTGGCTGGGCTCAGCCATTCGGCTCAGCCACCTTCTGGCTGCATAACTTGGACAAATCTCTCTCTCTCTCTCTCCAAGCCTCAGTTTCCTTCTCCATAAGATGGGGATGGCAATAGAATGTCCCTTACAGAAGACCATGAAGACAAAATGAGGTGCTAGAAGAAGCCTGGCACGTGGTGGACTCTCAGCAAGGGAGCTGTCAAAGCCTTCACAGCCACTGTTGCCTGCCCTGGGGAACTGAACAGATTCGCCCATATCCTCAAGAAGCTCGTGGTCCAGTGAGGGGACAGGCAGGTGACGTGCAATGCGTGCAGGAAGGAGGAAGCAGAGGTTGCTGGGGAGTGTGGTAGGGGCTCTGCCTCTGATAGCTGCGGGGCCTTGGGCAGGGCTGTGGGCCGCCCTGCACCTCCACATCACCTGTTGCCTGCAAGTTTCAGAACCCAAAACGGGCCTGTCAAGCCCCCGTCATACTGGTTCTGGCCATCAGAGGGCACGCGAAGCAGCGTTTAGCGGGACGGAGCAGCACCCCCAACTCTGCAGACCCCTCGGCTGTCCGGGAGCTGGGTGCTTATGCCGCTGGGCCACCAACAGAGAGAGGACATAGGCGCGATGTCCACAAAGCTCTGGCTTTACCCCAAACCCTTCCTAGCTGGAGGAATCTTCCAATGACATGCCACATCTTAGGGGCCTCCCTGAAGTCTCCTTGTCCTTGTCTGT
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Task1_train_22760
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This alteration occurs within gene CNGB1 (cyclic nucleotide gated channel subunit beta 1) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
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Pathogenic; Retinal dystrophy
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CTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATGGGGTGTGCAATGCCCTGAGAGAAAGCGAGGAGAGAGGAGAGAGAGAGGGAAGGAGGGAGAGAGAGGAAGGGAGGGAGGAAGGGACAGAAAGTCCTTCTTCCTTTTTTTTTTTTTTTTTTCAATTTAAACTGCACTTCGGCCTCACACCTGTAATCCCAGCACTTTGGGAGCCCGAGGCTGGCTAATCACCTGAGGTCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAATAATATAAAAATGAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCGGGAGATGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATGTCAAATAAATAAATAAATAAACAAACACACAAACAAACTACACTTCGCTCTTGGATGGGGATGCATTTCAAGGTGGGTAAAGTGAGGGGGGCAGGCACACAGAAGACAAGCCCCCCGTCTCCAGGGATCTCATGACAGCCCTGCTAGAGGCACTTCAGGGGCCCCACTGGGCACCTCTCACACCAATGTTGGGGACACAGCCAAGACAGGCCCCAGTACTCGGGACCTCAGAGACACAGAGGACGAGGGAGGCGCCCCGAAGGCATGGCACCGGGCACCAGGCGACAGGAGTTGACTGGGAGCTGGTGGCTGCCAGGGCGTGACCATCTTACCCAGCATGCCTTGCGAGTGCCAGGTGTACTCGTACCAGGTCTTGACGCGGTTCTGCACGGACTTGGGGATCTTGTAGAAATTCATGTACTTCACCGTGCTGTCCATGCAGCTGCGGTAGTAGGTCTGTCCGGCGGTGGCGGCCCCTACCACATCTCTCATCTGGGGGAAGGGTTATGGGAGGTCAAGGAAGCCACTGGGTCATTGGGGGTGGGCGCTATTCCATGGATTTGGGATGTGTCACTTCACACAGACCACGGGCATGTGCTCCTGGCAGGGCGTTGGGAGGGGGGTAGGCAGATGTCCTCACACAGAGAAAGTTTTACTGACGGGAAGTTCTGCCTCCAGCATGGATGTGGGGAAGAGGAAGGGAGGGAGACTGCCAGCCCCTTGGTGGCCTCAGGTCCCTGGGACCACACCATGGGGGAAAGCTCCTTGGGCTGGGCTGATTCTGGTACAATACAGTTCCTCGGTGACGGCGGCCATGTTGTCTGACTCCATGCTGGAGGAAATAGGAAGCCAGTGTGCTGTTCCTCGGGGCGGGGCCCTTCAAATATAAATTTGAGAACCTCTGACTGTCACCTCATGTCTCGACCAGAATGTAAGATGCTGCCCTGGCACACCAGAAACACCAGGGGCTTCTCCCTCGGTCTCTGCAGAAAACCATTCAGCCCAGTGCACCCGGAGGAACTGACATTTCAAATGATAATGACCTCAGAGAGGGAATAGGGCCGAGTTCACCACCACCCCCTTCACCGCGCAGGGACCAGTGCTCCAGGCTCCTGACTCTCAGTCTAGTGCCCTTTCCCAGGCTTAATCCAAAAGCAACGGGCACAGAGGGTGACATTTCTGGCAACAGTGGGAGGGGGCCCTGCAGTCAGGTGGGGTGGGAAGCTGGGCTGGTGCCCCGATACCTGTCCGATCATCACAGAGAAAGCAAAGACGCCCGTGAAATAATTCAGCAGCTGGAAGACAATTTCAAAGAGTGTCTTGGGGTCAGGCAGCCCCCCGATGGTGATGAGGGTCTTCACAGCAAAGTAGTAACAGCGAATATAACTGGAGAGAGAGGAGAAAGGGAACATGGGTCATCACAGGCCCCACTCTGCCGCCCCGAGCAGTCTGGCTCAGACGCCTCTGATAGATGCATGTTGTGCAAAAGACAGAAACCCTTTACAGCTCATCTATGCAAGGAAAACCACCTCCTGCACGTGTAGAGCACGTTGCCGTTTGCAGAGCAGGTTCACAAATGCTATCGGGTATGGTTGTGTCTCTAGGGACATGTTGCCATCCCCATTTACAGATATGGAAACTGAGGCTCCAGGGGATTTCCAGGAAGAGTTGGCAGGAGGCCAGACCAGGGTCTTCCAACTCCTAATGACCGCACTCCCTCAATTTCCTTCAGTGTTCCTTCAATTTTCAGTCTTTTCATTTGCTATCTCCTGCCATATTGGCTTATGAAAAGCAAAAGCAACATCAAGTTTGGACGATATCTTGAGGATGACTTTTTCTGACCCGCCCCTACCCGGCCCATCCATTTTCCAGAGAGTGAAACTGAGGCCCCCAAAGGGAAAGGGCACACCCGTGGTCACTAGTTGGTAAGTACAAGAGCTGGGCGCTGTCTGCTTCTCTAAGATGTCATCCACCAGCAGTAACCCTCTGACGTCGGCTTGTGAACCTTCTGGAAGGGAGGTATGGGGGAGGGTGTCCTACTGTGTGGTAAAAGGCATAGGAAATGCCCCAAGTGCTCCAGTCTGAATGTGTCCCCCGAAATTCAGGCATTGGAAACTTAATTCCCAGTGCAATGGTGTCAGGAGCTAGGGCCTTCGGGCGCCGTTTAGGCTGCGAGGGCTTTGCCCTCATGAATAGATTAAAGCTGTTACAAAAGGTTCTGGTGGAGGGTTTCCACTTCCTTTGGCCCTTCTGCCTTCTTCCATACGAGGACAGCATTCCTCTCCTCTAGTGGACACTGTGGCCTTCAAGACATTGTCTTGGAAGCAGAGAGCAGCCCTCACCAGATGCCAGCACCTTGATCTTGGACTTCCCAGCTTCCAGCACAGTGAAAAATAAGTTTCTGTTCTTTATAAGTTACCCAGTCTCATGTATTTTACTACAGCAGCTCAAAAGGCATGAAGACACCAAGCTTGTGTGTGATTATCACAGAGCAGCAAGGGTCCCTCTGACACCTGTCCACACCTCAGGCTGAGCCCTCCCCTGGGTCAGCAAAGGTGAGGTCAGAAGGGCCTAGACACTGGGCAGTCCCTGCCGGCTTTCCTGCAGCAGCTATTTATGCAGTGTCCTAGATAGAACATGGGCTCTGGACCAGGCTGGCTGGGCTCAGCCATTCGGCTCAGCCACCTTCTGGCTGCATAACTTGGACAAATCTCTCTCTCTCTCTCTCCAAGCCTCAGTTTCCTTCTCCATAAGATGGGGATGGCAATAGAATGTCCCTTACAGAAGACCATGAAGACAAAATGAGGTGCTAGAAGAAGCCTGGCACGTGGTGGACTCTCAGCAAGGGAGCTGTCAAAGCCTTCACAGCCACTGTTGCCTGCCCTGGGGAACTGAACAGATTCGCCCATATCCTCAAGAAGCTCGTGGTCCAGTGAGGGGACAGGCAGGTGACGTGCAATGCGTGCAGGAAGGAGGAAGCAGAGGTTGCTGGGGAGTGTGGTAGGGGCTCTGCCTCTGATAGCTGCGGGGCCTTGGGCAGGGCTGTGGGCCGCCCTGCACCTCCACATCACCTGTTGCCTGCAAGTTTCAGAACCCAAAACGGGCCTGTCAAGCCCCCGTCATACTGGTTCTGGCCATCAGAGGGCACGCGAAGCAGCGTTTAGCGGGACGGAGCAGCACCCCCAACTCTGCAGACCCCTCGGCTGTCCGGGAGCTGGGTGCTTATGCCGCTGGGCCACCAACAGAGAGAGGACATAGGCGCGATGTCCACAAAGCTCTGGCTTTACCCCAAACCCTTCCTAGCTGGAGGAATCTTCCAATGACATGCCACATCTTAGGGGCCTCCCTGAAGTCTCCTTGTCCTTGTCTGTGGGGACCATCTGTGCTTCAGGATGGGCAGAACTGGGGCAGGAGAGCACTGGGGCGGGATG
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CTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAAAACTATTTTACTAAATCCCCTAAGCAACCCAAGAGGTGCCCTACTATAATATCGACTTTATAGATGAGCAAATGGCAGTGACATGCCCGTAGTCTTGTAGCTCGAGGGATAAACTCAGGACCCCAACCTGGCTGTGGAGCTCTAGAGCTGCCCCAGGAGATCCAGGGCTAAGCCTGCTGCACCCATCATGGGGTGTGCAATGCCCTGAGAGAAAGCGAGGAGAGAGGAGAGAGAGAGGGAAGGAGGGAGAGAGAGGAAGGGAGGGAGGAAGGGACAGAAAGTCCTTCTTCCTTTTTTTTTTTTTTTTTTCAATTTAAACTGCACTTCGGCCTCACACCTGTAATCCCAGCACTTTGGGAGCCCGAGGCTGGCTAATCACCTGAGGTCAGGAGTCCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAATAATATAAAAATGAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCGGGAGATGGAGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATGTCAAATAAATAAATAAATAAACAAACACACAAACAAACTACACTTCGCTCTTGGATGGGGATGCATTTCAAGGTGGGTAAAGTGAGGGGGGCAGGCACACAGAAGACAAGCCCCCCGTCTCCAGGGATCTCATGACAGCCCTGCTAGAGGCACTTCAGGGGCCCCACTGGGCACCTCTCACACCAATGTTGGGGACACAGCCAAGACAGGCCCCAGTACTCGGGACCTCAGAGACACAGAGGACGAGGGAGGCGCCCCGAAGGCATGGCACCGGGCACCAGGCGACAGGAGTTGACTGGGAGCTGGTGGCTGCCAGGGCGTGACCATCTTACCCAGCATGCCTTGCGAGTGCCAGGTGTACTCGTACCAGGTCTTGACGCGGTTCTGCACGGACTTGGGGATCTTGTAGAAATTCATGTACTTCACCGTGCTGTCCATGCAGCTGCGGTAGTAGGTCTGTCCGGCGGTGGCGGCCCCTACCACATCTCTCATCTGGGGGAAGGGTTATGGGAGGTCAAGGAAGCCACTGGGTCATTGGGGGTGGGCGCTATTCCATGGATTTGGGATGTGTCACTTCACACAGACCACGGGCATGTGCTCCTGGCAGGGCGTTGGGAGGGGGGTAGGCAGATGTCCTCACACAGAGAAAGTTTTACTGACGGGAAGTTCTGCCTCCAGCATGGATGTGGGGAAGAGGAAGGGAGGGAGACTGCCAGCCCCTTGGTGGCCTCAGGTCCCTGGGACCACACCATGGGGGAAAGCTCCTTGGGCTGGGCTGATTCTGGTACAATACAGTTCCTCGGTGACGGCGGCCATGTTGTCTGACTCCATGCTGGAGGAAATAGGAAGCCAGTGTGCTGTTCCTCGGGGCGGGGCCCTTCAAATATAAATTTGAGAACCTCTGACTGTCACCTCATGTCTCGACCAGAATGTAAGATGCTGCCCTGGCACACCAGAAACACCAGGGGCTTCTCCCTCGGTCTCTGCAGAAAACCATTCAGCCCAGTGCACCCGGAGGAACTGACATTTCAAATGATAATGACCTCAGAGAGGGAATAGGGCCGAGTTCACCACCACCCCCTTCACCGCGCAGGGACCAGTGCTCCAGGCTCCTGACTCTCAGTCTAGTGCCCTTTCCCAGGCTTAATCCAAAAGCAACGGGCACAGAGGGTGACATTTCTGGCAACAGTGGGAGGGGGCCCTGCAGTCAGGTGGGGTGGGAAGCTGGGCTGGTGCCCCGATACCTGTCCGATCATCACAGAGAAAGCAAAGACGCCCGTGAAATAATTCAGCAGCTGGAAGACAATTTCAAAGAGTGTCTTGGGGTCAGGCAGCCCCCCGATGGTGATGAGGGTCTTCACAGCAAAGTAGTAACAGCGAATACAACTGGAGAGAGAGGAGAAAGGGAACATGGGTCATCACAGGCCCCACTCTGCCGCCCCGAGCAGTCTGGCTCAGACGCCTCTGATAGATGCATGTTGTGCAAAAGACAGAAACCCTTTACAGCTCATCTATGCAAGGAAAACCACCTCCTGCACGTGTAGAGCACGTTGCCGTTTGCAGAGCAGGTTCACAAATGCTATCGGGTATGGTTGTGTCTCTAGGGACATGTTGCCATCCCCATTTACAGATATGGAAACTGAGGCTCCAGGGGATTTCCAGGAAGAGTTGGCAGGAGGCCAGACCAGGGTCTTCCAACTCCTAATGACCGCACTCCCTCAATTTCCTTCAGTGTTCCTTCAATTTTCAGTCTTTTCATTTGCTATCTCCTGCCATATTGGCTTATGAAAAGCAAAAGCAACATCAAGTTTGGACGATATCTTGAGGATGACTTTTTCTGACCCGCCCCTACCCGGCCCATCCATTTTCCAGAGAGTGAAACTGAGGCCCCCAAAGGGAAAGGGCACACCCGTGGTCACTAGTTGGTAAGTACAAGAGCTGGGCGCTGTCTGCTTCTCTAAGATGTCATCCACCAGCAGTAACCCTCTGACGTCGGCTTGTGAACCTTCTGGAAGGGAGGTATGGGGGAGGGTGTCCTACTGTGTGGTAAAAGGCATAGGAAATGCCCCAAGTGCTCCAGTCTGAATGTGTCCCCCGAAATTCAGGCATTGGAAACTTAATTCCCAGTGCAATGGTGTCAGGAGCTAGGGCCTTCGGGCGCCGTTTAGGCTGCGAGGGCTTTGCCCTCATGAATAGATTAAAGCTGTTACAAAAGGTTCTGGTGGAGGGTTTCCACTTCCTTTGGCCCTTCTGCCTTCTTCCATACGAGGACAGCATTCCTCTCCTCTAGTGGACACTGTGGCCTTCAAGACATTGTCTTGGAAGCAGAGAGCAGCCCTCACCAGATGCCAGCACCTTGATCTTGGACTTCCCAGCTTCCAGCACAGTGAAAAATAAGTTTCTGTTCTTTATAAGTTACCCAGTCTCATGTATTTTACTACAGCAGCTCAAAAGGCATGAAGACACCAAGCTTGTGTGTGATTATCACAGAGCAGCAAGGGTCCCTCTGACACCTGTCCACACCTCAGGCTGAGCCCTCCCCTGGGTCAGCAAAGGTGAGGTCAGAAGGGCCTAGACACTGGGCAGTCCCTGCCGGCTTTCCTGCAGCAGCTATTTATGCAGTGTCCTAGATAGAACATGGGCTCTGGACCAGGCTGGCTGGGCTCAGCCATTCGGCTCAGCCACCTTCTGGCTGCATAACTTGGACAAATCTCTCTCTCTCTCTCTCCAAGCCTCAGTTTCCTTCTCCATAAGATGGGGATGGCAATAGAATGTCCCTTACAGAAGACCATGAAGACAAAATGAGGTGCTAGAAGAAGCCTGGCACGTGGTGGACTCTCAGCAAGGGAGCTGTCAAAGCCTTCACAGCCACTGTTGCCTGCCCTGGGGAACTGAACAGATTCGCCCATATCCTCAAGAAGCTCGTGGTCCAGTGAGGGGACAGGCAGGTGACGTGCAATGCGTGCAGGAAGGAGGAAGCAGAGGTTGCTGGGGAGTGTGGTAGGGGCTCTGCCTCTGATAGCTGCGGGGCCTTGGGCAGGGCTGTGGGCCGCCCTGCACCTCCACATCACCTGTTGCCTGCAAGTTTCAGAACCCAAAACGGGCCTGTCAAGCCCCCGTCATACTGGTTCTGGCCATCAGAGGGCACGCGAAGCAGCGTTTAGCGGGACGGAGCAGCACCCCCAACTCTGCAGACCCCTCGGCTGTCCGGGAGCTGGGTGCTTATGCCGCTGGGCCACCAACAGAGAGAGGACATAGGCGCGATGTCCACAAAGCTCTGGCTTTACCCCAAACCCTTCCTAGCTGGAGGAATCTTCCAATGACATGCCACATCTTAGGGGCCTCCCTGAAGTCTCCTTGTCCTTGTCTGTGGGGACCATCTGTGCTTCAGGATGGGCAGAACTGGGGCAGGAGAGCACTGGGGCGGGATG
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Task1_train_22761
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This alteration occurs within gene CNGB1 (cyclic nucleotide gated channel subunit beta 1) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
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Pathogenic; Autosomal recessive retinitis pigmentosa
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AATGACATGTAATCTTGTTCTCACAATTTGCATATAATTTCAGGGGACTCCTGGACCCTCTGAATTCTATCATGAGACTTTTAGGGGTACATGCATCCAGGTTAAAGCTGCTGTTTTTAATGTTTCTTATAAAGAAAACAATTTAATAAAGAGACAGCATCCCTAACACCCCACTCTTATATCCTTCAAAGGTTTATTTATAAGAATAAAAGTATATTAATAACTACTTTTCTTTATTGAGCACCTATTATATGACTGGCATATGCCTTTTTTTGTTTTGTTTTTTCAGAGACAGAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTACAGTCATAGATAACCACAGCCTCGAACTTCTGGGCTCAAGCGATTTTTCAGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCACACATCAACACTCATGGGTAATTTTTAAATTTTTTGTAGAGACAGAGTCTCACTGTGTTACCCAGGTTGGTCTCACATTTCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCTTAAAGTGCTGGTATTACAAGCATGAGCCGCCACACCCAGCCAGCACATACATTTATATACATTACCTTATTCCTTATTTACATATGAAGTATGTATTATCATTCTCCTTTGACAGAAATTGGTGCTCAGGGAAGTCCAGTAACTTGTCCAAAGCACACAGCTGGTATGTGAGAGAGTCAGCATTCCAACCCAGGCCAGACTCAGAGCTGCAAGCTCTCTCCTTATGCTATACCACCTCTAGATCTTTGGATTTATTTTTTGATATTTGAAAATAGTATTTATGAAGATTCTCTAAGGGATATTCCAGTTATCATCCATGTGTTCATTCTAGTTCCAGCCACAGTTTAAACTGGAGGCAGAAAGAACAGGGGCTTGGATGGCTCACTTAAAGAGTTTTGTCCACTGAATGGTGTTCAATGTTAGGCCTGTGAGTTTTGCCCCCTCACTGGGGCCACCATGTGACCCAAGGTATGGATCTCACCTCTGCGTCTGGGGTGAAACTTGGCCTGTGGACCCAACCTTCCTCACTCTGATGTTTGGCTCTAAAGCAACCTCTGCAGCCCCTGGGAGGCTGGTATGTGTCAAATAAGAATGGTGCCAATTCCACTTTCCCCCTTCCTCTTGGCAGCCAGGAAGCTCAGAGGCAGCTTCCATGCTCGATTCCACATAGGTGTGCTTTCTTCTCATCAGGGCACTTGCACGCCCCCTAGTTTTCTCTGCCCTGTTTCTCTGGGTTGTTCATGTTATTGCATTTGCATTTTTTGTAAATTCCCTCAGTACTGTTTTCAGAAAAAGGCACCAGTCTTCATTTCAGGAGACAGATGAATGTGATTGGTTGGCCATCAAAATCCATTTGGGGGATCCTGAATGCTCTGAGTGGCTATCCACCCTGATCACGTGACAGGACCATGGCCAGCTGTGGCAGCCAGACCATCCTGGAGACTTTCGCTCTGCCCAGTGAGTGCCAGAAGGAATGGCTGGAATGACACTGAGGCCTGGCCAGTGATGAAACGGGTGTCTGGCTGTGCATTCAAATCCATCCCTGGCACTTCCTTGCTCCTGCGACCTAGGGCAAGTCCCCCAGCCTCTCCAAGCACCAATGTCCCCATCTTTTAGACAGAGACCATCATAAAGCAGAAGATCCCCTCTTGAGAGTCTCTATAATCACTGAGAGCGTAAACAGTGGAGACAGATGACCTGCATTCATATCTGGGCTCCACTCCCTCCTGGCTGTGTGACTTTGGGCAAATTAATTAACCTCTCTGTGCCCCAGTCCTTCATTTGTAAAATGCTGGCAATAATACTACCTAACATGCAGCACCACAGAAGCACTAGCAAATTGTAATGAACTTTCCACTAAGACACACGTGGAATAAATGCATCTCCCCTCGGGCCATCCCTTGAGGAACTCCCCTCCCCAGTGCTGCTGGGGGCAGACACGAAGATGCCAGTGTCGGTGCAGAGCAGGGATGAGCTGAAGGCCTGGGGTGGTGGGCCCAGCAGTCCTACCTTTAAACAGCGGGGCAGGCGGAGGAGGGGGTTCACACCGACTTTCAAATAGAGAAAATCCAAGGGCAGGAGGCTGAGCAGGTCCATCTGAAATCCCAGTGGGACACCATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGATGTCAGGAGTTCGAGACCAGACTGCCCAACATGGTGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGTGTGGTGACGCACACTTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGGAGTGCTTGAACGAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGAACTCCAGCCTGGGAGACAGAGTTAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAGAAAGATAACTTCTGGGGGCTACCCAGCCTGTGCTGGTCTCCTGGGGCTTGTGGTTTGGAGGACACTCCCACAGGGACCAGCATCCCTCCGTGTGGCAGAAACCACATCTCATGAACGCCCCAGGCACCCAGGGCCCTCTGAGGCACCCCCTTCTGAAACCCCGCAGACGCTAAACCTTGCATGCCCGGCACACACCTTGAAGCGGCGAGACTTCAGGTAGTTATTTCGCATGTCCTTTTTGTCCGTCTGAAAGAAAGGGAATGATGATGGTGAAATGACCTTACAGCTTAATCTCTGACCCTGTGGAGCAATTGTGAAACTTCCCCAAGAACCCCACCCTGAAACGAGCATAACAGCCCAAGGACCATCTGAGCCTTGGTGAAAGCCTTGAGTTTTATGGGTGGAGAGGCCCAGCCCCCAGGGAGGAGGGATCTGTTCTGGTCACCCAGCTAGATCCTGATTTCTTGGGTGGAAAGCAAGGACATTAAGCTTATTCCCTCTGCCCATTGGTCTTACCTGGACCATTTGCACATCTGTTTACTAAGGAATTGGTAGTCACTCTGATCAGGCCAGAAAAGAGGTTCTCCAAGGAAATCTCTTTACTTTTTACTTTACTCTCTTTAAATCTCTCCAAGGAAAATCGTTTACAGGCAAAACCTGAGCTTGTCTGCACACAGCAAAACAGGCACTGCCGGGGTGGAATTTTGGAAAGTGACCCACACTGGGAGACAGGGACTGTGTCTCCTGTTCCTGAGAAGTCACAGTCAGGGCCTCAGTTTCCTCCCTGGTAAGGCAGGGGTGGTGCACGGGGCTGGACCAGAGGCCAGGGTCTCAAATTGGCCCAAGTAGGAGAGCATCAGTGTGTTTTTGCAGGACCCCTGGGAGAAGTCAATTGCCAGTGGATACCTGTGCTGAGCGCCCCGCATGCATCGTTTCAACCAATCCTCATGGCAACACTGGGAGGTGGAAGCTATTACTAGCCCCATTCTACAGATGAGGAAACAGAGGCGATTCAGCTAGTTGTGGTGGAGGTGGGATTCAAACCAGGTACATCCTCACTAAAGACCATTCCCTGGACCACTTCTCTATCTTTGATTCTGTCAAGTGGTCCAGGAACTATTTCACCTATGAGCAATATCTGATGTGCGTAATTTGAACGTATCAAAGGCATGCAAAATAAACAACCATGCTATTGAACAAGCACAGCAGCCGTTCTTGAGATTTCCTTATTCACTTATTTTGTCATCTATGACAGCATCAGGGGTCAGTGCCCTGGAGGCTCTGGCTGAGCGGTCTGCCCCCGGTCACCCCAACACCACCTGCCTGTGACTCACAATGATGTCCCCGCCTCTGACAAACTGCAGGCGTGTCTG
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AATGACATGTAATCTTGTTCTCACAATTTGCATATAATTTCAGGGGACTCCTGGACCCTCTGAATTCTATCATGAGACTTTTAGGGGTACATGCATCCAGGTTAAAGCTGCTGTTTTTAATGTTTCTTATAAAGAAAACAATTTAATAAAGAGACAGCATCCCTAACACCCCACTCTTATATCCTTCAAAGGTTTATTTATAAGAATAAAAGTATATTAATAACTACTTTTCTTTATTGAGCACCTATTATATGACTGGCATATGCCTTTTTTTGTTTTGTTTTTTCAGAGACAGAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTACAGTCATAGATAACCACAGCCTCGAACTTCTGGGCTCAAGCGATTTTTCAGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCACACATCAACACTCATGGGTAATTTTTAAATTTTTTGTAGAGACAGAGTCTCACTGTGTTACCCAGGTTGGTCTCACATTTCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCTTAAAGTGCTGGTATTACAAGCATGAGCCGCCACACCCAGCCAGCACATACATTTATATACATTACCTTATTCCTTATTTACATATGAAGTATGTATTATCATTCTCCTTTGACAGAAATTGGTGCTCAGGGAAGTCCAGTAACTTGTCCAAAGCACACAGCTGGTATGTGAGAGAGTCAGCATTCCAACCCAGGCCAGACTCAGAGCTGCAAGCTCTCTCCTTATGCTATACCACCTCTAGATCTTTGGATTTATTTTTTGATATTTGAAAATAGTATTTATGAAGATTCTCTAAGGGATATTCCAGTTATCATCCATGTGTTCATTCTAGTTCCAGCCACAGTTTAAACTGGAGGCAGAAAGAACAGGGGCTTGGATGGCTCACTTAAAGAGTTTTGTCCACTGAATGGTGTTCAATGTTAGGCCTGTGAGTTTTGCCCCCTCACTGGGGCCACCATGTGACCCAAGGTATGGATCTCACCTCTGCGTCTGGGGTGAAACTTGGCCTGTGGACCCAACCTTCCTCACTCTGATGTTTGGCTCTAAAGCAACCTCTGCAGCCCCTGGGAGGCTGGTATGTGTCAAATAAGAATGGTGCCAATTCCACTTTCCCCCTTCCTCTTGGCAGCCAGGAAGCTCAGAGGCAGCTTCCATGCTCGATTCCACATAGGTGTGCTTTCTTCTCATCAGGGCACTTGCACGCCCCCTAGTTTTCTCTGCCCTGTTTCTCTGGGTTGTTCATGTTATTGCATTTGCATTTTTTGTAAATTCCCTCAGTACTGTTTTCAGAAAAAGGCACCAGTCTTCATTTCAGGAGACAGATGAATGTGATTGGTTGGCCATCAAAATCCATTTGGGGGATCCTGAATGCTCTGAGTGGCTATCCACCCTGATCACGTGACAGGACCATGGCCAGCTGTGGCAGCCAGACCATCCTGGAGACTTTCGCTCTGCCCAGTGAGTGCCAGAAGGAATGGCTGGAATGACACTGAGGCCTGGCCAGTGATGAAACGGGTGTCTGGCTGTGCATTCAAATCCATCCCTGGCACTTCCTTGCTCCTGCGACCTAGGGCAAGTCCCCCAGCCTCTCCAAGCACCAATGTCCCCATCTTTTAGACAGAGACCATCATAAAGCAGAAGATCCCCTCTTGAGAGTCTCTATAATCACTGAGAGCGTAAACAGTGGAGACAGATGACCTGCATTCATATCTGGGCTCCACTCCCTCCTGGCTGTGTGACTTTGGGCAAATTAATTAACCTCTCTGTGCCCCAGTCCTTCATTTGTAAAATGCTGGCAATAATACTACCTAACATGCAGCACCACAGAAGCACTAGCAAATTGTAATGAACTTTCCACTAAGACACACGTGGAATAAATGCATCTCCCCTCGGGCCATCCCTTGAGGAACTCCCCTCCCCAGTGCTGCTGGGGGCAGACACGAAGATGCCAGTGTCGGTGCAGAGCAGGGATGAGCTGAAGGCCTGGGGTGGTGGGCCCAGCAGTCCTACCTTTAAACAGAGGGGCAGGCGGAGGAGGGGGTTCACACCGACTTTCAAATAGAGAAAATCCAAGGGCAGGAGGCTGAGCAGGTCCATCTGAAATCCCAGTGGGACACCATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGATGTCAGGAGTTCGAGACCAGACTGCCCAACATGGTGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGTGTGGTGACGCACACTTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGGAGTGCTTGAACGAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGAACTCCAGCCTGGGAGACAGAGTTAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAGAAAGATAACTTCTGGGGGCTACCCAGCCTGTGCTGGTCTCCTGGGGCTTGTGGTTTGGAGGACACTCCCACAGGGACCAGCATCCCTCCGTGTGGCAGAAACCACATCTCATGAACGCCCCAGGCACCCAGGGCCCTCTGAGGCACCCCCTTCTGAAACCCCGCAGACGCTAAACCTTGCATGCCCGGCACACACCTTGAAGCGGCGAGACTTCAGGTAGTTATTTCGCATGTCCTTTTTGTCCGTCTGAAAGAAAGGGAATGATGATGGTGAAATGACCTTACAGCTTAATCTCTGACCCTGTGGAGCAATTGTGAAACTTCCCCAAGAACCCCACCCTGAAACGAGCATAACAGCCCAAGGACCATCTGAGCCTTGGTGAAAGCCTTGAGTTTTATGGGTGGAGAGGCCCAGCCCCCAGGGAGGAGGGATCTGTTCTGGTCACCCAGCTAGATCCTGATTTCTTGGGTGGAAAGCAAGGACATTAAGCTTATTCCCTCTGCCCATTGGTCTTACCTGGACCATTTGCACATCTGTTTACTAAGGAATTGGTAGTCACTCTGATCAGGCCAGAAAAGAGGTTCTCCAAGGAAATCTCTTTACTTTTTACTTTACTCTCTTTAAATCTCTCCAAGGAAAATCGTTTACAGGCAAAACCTGAGCTTGTCTGCACACAGCAAAACAGGCACTGCCGGGGTGGAATTTTGGAAAGTGACCCACACTGGGAGACAGGGACTGTGTCTCCTGTTCCTGAGAAGTCACAGTCAGGGCCTCAGTTTCCTCCCTGGTAAGGCAGGGGTGGTGCACGGGGCTGGACCAGAGGCCAGGGTCTCAAATTGGCCCAAGTAGGAGAGCATCAGTGTGTTTTTGCAGGACCCCTGGGAGAAGTCAATTGCCAGTGGATACCTGTGCTGAGCGCCCCGCATGCATCGTTTCAACCAATCCTCATGGCAACACTGGGAGGTGGAAGCTATTACTAGCCCCATTCTACAGATGAGGAAACAGAGGCGATTCAGCTAGTTGTGGTGGAGGTGGGATTCAAACCAGGTACATCCTCACTAAAGACCATTCCCTGGACCACTTCTCTATCTTTGATTCTGTCAAGTGGTCCAGGAACTATTTCACCTATGAGCAATATCTGATGTGCGTAATTTGAACGTATCAAAGGCATGCAAAATAAACAACCATGCTATTGAACAAGCACAGCAGCCGTTCTTGAGATTTCCTTATTCACTTATTTTGTCATCTATGACAGCATCAGGGGTCAGTGCCCTGGAGGCTCTGGCTGAGCGGTCTGCCCCCGGTCACCCCAACACCACCTGCCTGTGACTCACAATGATGTCCCCGCCTCTGACAAACTGCAGGCGTGTCTG
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Task1_train_22762
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This alteration in CNGB1 (cyclic nucleotide gated channel subunit beta 1) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Retinitis pigmentosa 45
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AATCTTGTTCTCACAATTTGCATATAATTTCAGGGGACTCCTGGACCCTCTGAATTCTATCATGAGACTTTTAGGGGTACATGCATCCAGGTTAAAGCTGCTGTTTTTAATGTTTCTTATAAAGAAAACAATTTAATAAAGAGACAGCATCCCTAACACCCCACTCTTATATCCTTCAAAGGTTTATTTATAAGAATAAAAGTATATTAATAACTACTTTTCTTTATTGAGCACCTATTATATGACTGGCATATGCCTTTTTTTGTTTTGTTTTTTCAGAGACAGAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTACAGTCATAGATAACCACAGCCTCGAACTTCTGGGCTCAAGCGATTTTTCAGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCACACATCAACACTCATGGGTAATTTTTAAATTTTTTGTAGAGACAGAGTCTCACTGTGTTACCCAGGTTGGTCTCACATTTCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCTTAAAGTGCTGGTATTACAAGCATGAGCCGCCACACCCAGCCAGCACATACATTTATATACATTACCTTATTCCTTATTTACATATGAAGTATGTATTATCATTCTCCTTTGACAGAAATTGGTGCTCAGGGAAGTCCAGTAACTTGTCCAAAGCACACAGCTGGTATGTGAGAGAGTCAGCATTCCAACCCAGGCCAGACTCAGAGCTGCAAGCTCTCTCCTTATGCTATACCACCTCTAGATCTTTGGATTTATTTTTTGATATTTGAAAATAGTATTTATGAAGATTCTCTAAGGGATATTCCAGTTATCATCCATGTGTTCATTCTAGTTCCAGCCACAGTTTAAACTGGAGGCAGAAAGAACAGGGGCTTGGATGGCTCACTTAAAGAGTTTTGTCCACTGAATGGTGTTCAATGTTAGGCCTGTGAGTTTTGCCCCCTCACTGGGGCCACCATGTGACCCAAGGTATGGATCTCACCTCTGCGTCTGGGGTGAAACTTGGCCTGTGGACCCAACCTTCCTCACTCTGATGTTTGGCTCTAAAGCAACCTCTGCAGCCCCTGGGAGGCTGGTATGTGTCAAATAAGAATGGTGCCAATTCCACTTTCCCCCTTCCTCTTGGCAGCCAGGAAGCTCAGAGGCAGCTTCCATGCTCGATTCCACATAGGTGTGCTTTCTTCTCATCAGGGCACTTGCACGCCCCCTAGTTTTCTCTGCCCTGTTTCTCTGGGTTGTTCATGTTATTGCATTTGCATTTTTTGTAAATTCCCTCAGTACTGTTTTCAGAAAAAGGCACCAGTCTTCATTTCAGGAGACAGATGAATGTGATTGGTTGGCCATCAAAATCCATTTGGGGGATCCTGAATGCTCTGAGTGGCTATCCACCCTGATCACGTGACAGGACCATGGCCAGCTGTGGCAGCCAGACCATCCTGGAGACTTTCGCTCTGCCCAGTGAGTGCCAGAAGGAATGGCTGGAATGACACTGAGGCCTGGCCAGTGATGAAACGGGTGTCTGGCTGTGCATTCAAATCCATCCCTGGCACTTCCTTGCTCCTGCGACCTAGGGCAAGTCCCCCAGCCTCTCCAAGCACCAATGTCCCCATCTTTTAGACAGAGACCATCATAAAGCAGAAGATCCCCTCTTGAGAGTCTCTATAATCACTGAGAGCGTAAACAGTGGAGACAGATGACCTGCATTCATATCTGGGCTCCACTCCCTCCTGGCTGTGTGACTTTGGGCAAATTAATTAACCTCTCTGTGCCCCAGTCCTTCATTTGTAAAATGCTGGCAATAATACTACCTAACATGCAGCACCACAGAAGCACTAGCAAATTGTAATGAACTTTCCACTAAGACACACGTGGAATAAATGCATCTCCCCTCGGGCCATCCCTTGAGGAACTCCCCTCCCCAGTGCTGCTGGGGGCAGACACGAAGATGCCAGTGTCGGTGCAGAGCAGGGATGAGCTGAAGGCCTGGGGTGGTGGGCCCAGCAGTCCTACCTTTAAACAGCGGGGCAGGCGGAGGAGGGGGTTCACACCGACTTTCAAATAGAGAAAATCCAAGGGCAGGAGGCTGAGCAGGTCCATCTGAAATCCCAGTGGGACACCATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGATGTCAGGAGTTCGAGACCAGACTGCCCAACATGGTGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGTGTGGTGACGCACACTTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGGAGTGCTTGAACGAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGAACTCCAGCCTGGGAGACAGAGTTAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAGAAAGATAACTTCTGGGGGCTACCCAGCCTGTGCTGGTCTCCTGGGGCTTGTGGTTTGGAGGACACTCCCACAGGGACCAGCATCCCTCCGTGTGGCAGAAACCACATCTCATGAACGCCCCAGGCACCCAGGGCCCTCTGAGGCACCCCCTTCTGAAACCCCGCAGACGCTAAACCTTGCATGCCCGGCACACACCTTGAAGCGGCGAGACTTCAGGTAGTTATTTCGCATGTCCTTTTTGTCCGTCTGAAAGAAAGGGAATGATGATGGTGAAATGACCTTACAGCTTAATCTCTGACCCTGTGGAGCAATTGTGAAACTTCCCCAAGAACCCCACCCTGAAACGAGCATAACAGCCCAAGGACCATCTGAGCCTTGGTGAAAGCCTTGAGTTTTATGGGTGGAGAGGCCCAGCCCCCAGGGAGGAGGGATCTGTTCTGGTCACCCAGCTAGATCCTGATTTCTTGGGTGGAAAGCAAGGACATTAAGCTTATTCCCTCTGCCCATTGGTCTTACCTGGACCATTTGCACATCTGTTTACTAAGGAATTGGTAGTCACTCTGATCAGGCCAGAAAAGAGGTTCTCCAAGGAAATCTCTTTACTTTTTACTTTACTCTCTTTAAATCTCTCCAAGGAAAATCGTTTACAGGCAAAACCTGAGCTTGTCTGCACACAGCAAAACAGGCACTGCCGGGGTGGAATTTTGGAAAGTGACCCACACTGGGAGACAGGGACTGTGTCTCCTGTTCCTGAGAAGTCACAGTCAGGGCCTCAGTTTCCTCCCTGGTAAGGCAGGGGTGGTGCACGGGGCTGGACCAGAGGCCAGGGTCTCAAATTGGCCCAAGTAGGAGAGCATCAGTGTGTTTTTGCAGGACCCCTGGGAGAAGTCAATTGCCAGTGGATACCTGTGCTGAGCGCCCCGCATGCATCGTTTCAACCAATCCTCATGGCAACACTGGGAGGTGGAAGCTATTACTAGCCCCATTCTACAGATGAGGAAACAGAGGCGATTCAGCTAGTTGTGGTGGAGGTGGGATTCAAACCAGGTACATCCTCACTAAAGACCATTCCCTGGACCACTTCTCTATCTTTGATTCTGTCAAGTGGTCCAGGAACTATTTCACCTATGAGCAATATCTGATGTGCGTAATTTGAACGTATCAAAGGCATGCAAAATAAACAACCATGCTATTGAACAAGCACAGCAGCCGTTCTTGAGATTTCCTTATTCACTTATTTTGTCATCTATGACAGCATCAGGGGTCAGTGCCCTGGAGGCTCTGGCTGAGCGGTCTGCCCCCGGTCACCCCAACACCACCTGCCTGTGACTCACAATGATGTCCCCGCCTCTGACAAACTGCAGGCGTGTCTGGAACACGGTG
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AATCTTGTTCTCACAATTTGCATATAATTTCAGGGGACTCCTGGACCCTCTGAATTCTATCATGAGACTTTTAGGGGTACATGCATCCAGGTTAAAGCTGCTGTTTTTAATGTTTCTTATAAAGAAAACAATTTAATAAAGAGACAGCATCCCTAACACCCCACTCTTATATCCTTCAAAGGTTTATTTATAAGAATAAAAGTATATTAATAACTACTTTTCTTTATTGAGCACCTATTATATGACTGGCATATGCCTTTTTTTGTTTTGTTTTTTCAGAGACAGAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTACAGTCATAGATAACCACAGCCTCGAACTTCTGGGCTCAAGCGATTTTTCAGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCACACATCAACACTCATGGGTAATTTTTAAATTTTTTGTAGAGACAGAGTCTCACTGTGTTACCCAGGTTGGTCTCACATTTCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCTTAAAGTGCTGGTATTACAAGCATGAGCCGCCACACCCAGCCAGCACATACATTTATATACATTACCTTATTCCTTATTTACATATGAAGTATGTATTATCATTCTCCTTTGACAGAAATTGGTGCTCAGGGAAGTCCAGTAACTTGTCCAAAGCACACAGCTGGTATGTGAGAGAGTCAGCATTCCAACCCAGGCCAGACTCAGAGCTGCAAGCTCTCTCCTTATGCTATACCACCTCTAGATCTTTGGATTTATTTTTTGATATTTGAAAATAGTATTTATGAAGATTCTCTAAGGGATATTCCAGTTATCATCCATGTGTTCATTCTAGTTCCAGCCACAGTTTAAACTGGAGGCAGAAAGAACAGGGGCTTGGATGGCTCACTTAAAGAGTTTTGTCCACTGAATGGTGTTCAATGTTAGGCCTGTGAGTTTTGCCCCCTCACTGGGGCCACCATGTGACCCAAGGTATGGATCTCACCTCTGCGTCTGGGGTGAAACTTGGCCTGTGGACCCAACCTTCCTCACTCTGATGTTTGGCTCTAAAGCAACCTCTGCAGCCCCTGGGAGGCTGGTATGTGTCAAATAAGAATGGTGCCAATTCCACTTTCCCCCTTCCTCTTGGCAGCCAGGAAGCTCAGAGGCAGCTTCCATGCTCGATTCCACATAGGTGTGCTTTCTTCTCATCAGGGCACTTGCACGCCCCCTAGTTTTCTCTGCCCTGTTTCTCTGGGTTGTTCATGTTATTGCATTTGCATTTTTTGTAAATTCCCTCAGTACTGTTTTCAGAAAAAGGCACCAGTCTTCATTTCAGGAGACAGATGAATGTGATTGGTTGGCCATCAAAATCCATTTGGGGGATCCTGAATGCTCTGAGTGGCTATCCACCCTGATCACGTGACAGGACCATGGCCAGCTGTGGCAGCCAGACCATCCTGGAGACTTTCGCTCTGCCCAGTGAGTGCCAGAAGGAATGGCTGGAATGACACTGAGGCCTGGCCAGTGATGAAACGGGTGTCTGGCTGTGCATTCAAATCCATCCCTGGCACTTCCTTGCTCCTGCGACCTAGGGCAAGTCCCCCAGCCTCTCCAAGCACCAATGTCCCCATCTTTTAGACAGAGACCATCATAAAGCAGAAGATCCCCTCTTGAGAGTCTCTATAATCACTGAGAGCGTAAACAGTGGAGACAGATGACCTGCATTCATATCTGGGCTCCACTCCCTCCTGGCTGTGTGACTTTGGGCAAATTAATTAACCTCTCTGTGCCCCAGTCCTTCATTTGTAAAATGCTGGCAATAATACTACCTAACATGCAGCACCACAGAAGCACTAGCAAATTGTAATGAACTTTCCACTAAGACACACGTGGAATAAATGCATCTCCCCTCGGGCCATCCCTTGAGGAACTCCCCTCCCCAGTGCTGCTGGGGGCAGACACGAAGATGCCAGTGTCGGTGCAGAGCAGGGATGAGCTGAAGGCCTGGGGTGGTGGGCCCAGCAGTCCTACCTTTAAACAGCGGGGCAGGCAGAGGAGGGGGTTCACACCGACTTTCAAATAGAGAAAATCCAAGGGCAGGAGGCTGAGCAGGTCCATCTGAAATCCCAGTGGGACACCATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGATGTCAGGAGTTCGAGACCAGACTGCCCAACATGGTGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGTGTGGTGACGCACACTTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGGAGTGCTTGAACGAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGAACTCCAGCCTGGGAGACAGAGTTAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAGAAAGATAACTTCTGGGGGCTACCCAGCCTGTGCTGGTCTCCTGGGGCTTGTGGTTTGGAGGACACTCCCACAGGGACCAGCATCCCTCCGTGTGGCAGAAACCACATCTCATGAACGCCCCAGGCACCCAGGGCCCTCTGAGGCACCCCCTTCTGAAACCCCGCAGACGCTAAACCTTGCATGCCCGGCACACACCTTGAAGCGGCGAGACTTCAGGTAGTTATTTCGCATGTCCTTTTTGTCCGTCTGAAAGAAAGGGAATGATGATGGTGAAATGACCTTACAGCTTAATCTCTGACCCTGTGGAGCAATTGTGAAACTTCCCCAAGAACCCCACCCTGAAACGAGCATAACAGCCCAAGGACCATCTGAGCCTTGGTGAAAGCCTTGAGTTTTATGGGTGGAGAGGCCCAGCCCCCAGGGAGGAGGGATCTGTTCTGGTCACCCAGCTAGATCCTGATTTCTTGGGTGGAAAGCAAGGACATTAAGCTTATTCCCTCTGCCCATTGGTCTTACCTGGACCATTTGCACATCTGTTTACTAAGGAATTGGTAGTCACTCTGATCAGGCCAGAAAAGAGGTTCTCCAAGGAAATCTCTTTACTTTTTACTTTACTCTCTTTAAATCTCTCCAAGGAAAATCGTTTACAGGCAAAACCTGAGCTTGTCTGCACACAGCAAAACAGGCACTGCCGGGGTGGAATTTTGGAAAGTGACCCACACTGGGAGACAGGGACTGTGTCTCCTGTTCCTGAGAAGTCACAGTCAGGGCCTCAGTTTCCTCCCTGGTAAGGCAGGGGTGGTGCACGGGGCTGGACCAGAGGCCAGGGTCTCAAATTGGCCCAAGTAGGAGAGCATCAGTGTGTTTTTGCAGGACCCCTGGGAGAAGTCAATTGCCAGTGGATACCTGTGCTGAGCGCCCCGCATGCATCGTTTCAACCAATCCTCATGGCAACACTGGGAGGTGGAAGCTATTACTAGCCCCATTCTACAGATGAGGAAACAGAGGCGATTCAGCTAGTTGTGGTGGAGGTGGGATTCAAACCAGGTACATCCTCACTAAAGACCATTCCCTGGACCACTTCTCTATCTTTGATTCTGTCAAGTGGTCCAGGAACTATTTCACCTATGAGCAATATCTGATGTGCGTAATTTGAACGTATCAAAGGCATGCAAAATAAACAACCATGCTATTGAACAAGCACAGCAGCCGTTCTTGAGATTTCCTTATTCACTTATTTTGTCATCTATGACAGCATCAGGGGTCAGTGCCCTGGAGGCTCTGGCTGAGCGGTCTGCCCCCGGTCACCCCAACACCACCTGCCTGTGACTCACAATGATGTCCCCGCCTCTGACAAACTGCAGGCGTGTCTGGAACACGGTG
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Task1_train_22763
|
The gene CNGB1 (cyclic nucleotide gated channel subunit beta 1), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Retinitis pigmentosa 45
|
CATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGATGTCAGGAGTTCGAGACCAGACTGCCCAACATGGTGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGTGTGGTGACGCACACTTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGGAGTGCTTGAACGAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGAACTCCAGCCTGGGAGACAGAGTTAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAGAAAGATAACTTCTGGGGGCTACCCAGCCTGTGCTGGTCTCCTGGGGCTTGTGGTTTGGAGGACACTCCCACAGGGACCAGCATCCCTCCGTGTGGCAGAAACCACATCTCATGAACGCCCCAGGCACCCAGGGCCCTCTGAGGCACCCCCTTCTGAAACCCCGCAGACGCTAAACCTTGCATGCCCGGCACACACCTTGAAGCGGCGAGACTTCAGGTAGTTATTTCGCATGTCCTTTTTGTCCGTCTGAAAGAAAGGGAATGATGATGGTGAAATGACCTTACAGCTTAATCTCTGACCCTGTGGAGCAATTGTGAAACTTCCCCAAGAACCCCACCCTGAAACGAGCATAACAGCCCAAGGACCATCTGAGCCTTGGTGAAAGCCTTGAGTTTTATGGGTGGAGAGGCCCAGCCCCCAGGGAGGAGGGATCTGTTCTGGTCACCCAGCTAGATCCTGATTTCTTGGGTGGAAAGCAAGGACATTAAGCTTATTCCCTCTGCCCATTGGTCTTACCTGGACCATTTGCACATCTGTTTACTAAGGAATTGGTAGTCACTCTGATCAGGCCAGAAAAGAGGTTCTCCAAGGAAATCTCTTTACTTTTTACTTTACTCTCTTTAAATCTCTCCAAGGAAAATCGTTTACAGGCAAAACCTGAGCTTGTCTGCACACAGCAAAACAGGCACTGCCGGGGTGGAATTTTGGAAAGTGACCCACACTGGGAGACAGGGACTGTGTCTCCTGTTCCTGAGAAGTCACAGTCAGGGCCTCAGTTTCCTCCCTGGTAAGGCAGGGGTGGTGCACGGGGCTGGACCAGAGGCCAGGGTCTCAAATTGGCCCAAGTAGGAGAGCATCAGTGTGTTTTTGCAGGACCCCTGGGAGAAGTCAATTGCCAGTGGATACCTGTGCTGAGCGCCCCGCATGCATCGTTTCAACCAATCCTCATGGCAACACTGGGAGGTGGAAGCTATTACTAGCCCCATTCTACAGATGAGGAAACAGAGGCGATTCAGCTAGTTGTGGTGGAGGTGGGATTCAAACCAGGTACATCCTCACTAAAGACCATTCCCTGGACCACTTCTCTATCTTTGATTCTGTCAAGTGGTCCAGGAACTATTTCACCTATGAGCAATATCTGATGTGCGTAATTTGAACGTATCAAAGGCATGCAAAATAAACAACCATGCTATTGAACAAGCACAGCAGCCGTTCTTGAGATTTCCTTATTCACTTATTTTGTCATCTATGACAGCATCAGGGGTCAGTGCCCTGGAGGCTCTGGCTGAGCGGTCTGCCCCCGGTCACCCCAACACCACCTGCCTGTGACTCACAATGATGTCCCCGCCTCTGACAAACTGCAGGCGTGTCTGGAACACGGTGATGTCCAGGAAGTAGATGAGGTCGCATAGGTAATCCATCAGCAGCCAGTGGTGGATGTTGTCCGGGGTCTGGTAGGGGAAGGCCCAGCGCACGGGAATCAGCCAACAGTTCCAATTCCAGGCCATCACCACGAAGAACAGCCATAGGACATACATCAGGTCTGTGGGGAAGGTTGACGGGGACGCTAGAGCATCAGCCAGGCAAGGCTCTTCACCAGTTGGATCAGGTAGGGTTTTGTTCTTTCTACTCCTTCAACTACTACATGTGGCACTTTTGTAAGAGTGTGTGTATGTGTGTGTGTGTGTATATATACACACACACACACACACACACATACACACACACACAACTCTCTGCTTTAGGAGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCTAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTAAGACCAGCCTGGACAACATAGCAAGACCCCCATCTCTACTTAAAAAAAAAAACACAACTATCTGTTTTAAAAATAAATTACTGCTAATCCCTAATAAATCAGAGTACTCTCAGGAGGGACTATGCTGGTATTATAAGATAATAGGCAGCCAACTGGAAAACTCATTTGCTTTTATTCTTCTTTAATTTTTTCCCAAAATGTATTTTCTTCCTCAGTAAATACAGAATAGTAAATAATGCATGAAGGATGGACAGATAGATGGACAGACAGGTGAATGCATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTATTCCAGATCATCTGGTTATTTATTTATTTATTTATTTATTTATTTATTTATTTACTATTTTTGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGCAGTTCTTTCACTACAGCCTCTCACAGTGCTGGGATTACAGGTGTGAGCCAATGTACCCAGCCCATCAGGTTATTTAAAGAATCCAGTGGACACCAGGGTTGAAGTCCTGCCCCCCAAATGTGTGACCTTGAGAAAGTCCCTCTCTGGCACCTGCCCTCTTCTGAGAAATCACAGGAAAAGGTCAGATAAGAAAGGCAGGGAGCCCTCTGTAAACTCTAAAGTGCTATGCACATATGAAGTGGGTTATTTCTGAGGAATATGAAGTGGGCTTAAAGGGAAGCAAGAGGAATTCACATTCCTGCTCTTTTTCTGTTCAGAGCAGGAGCTCTAGGAAAAGGCCAGCACGACCAGAGTGAAAAAGGACTTGGCCAAGAGTCAGGAGTCCTGGGTCCGCACTAACTAGTTGCATCTTTACCCTGGCTGACTTATCTGTACCTTAGTTTCCTCATCTGTAAAATGGGTATGATCTTATGTTCCTATTCCAGGGACTTTTGTTGTTGTTTTTAAGACAGAGTCTCACTCTGTCACCTAGGTTGGAATGCAATTGTGCGATCTTGACTCAGTGCACTCTCCACCTCCTGGATTCAAATGATTCTCCTGCTTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAATAGAGGCAGGGTTTCGTCATGTTAGCCAGGCTGGGTTTGTTTTGAGAATCAGGCAAGAAACTGTGGAATACTTTTGAAAGGTATAAAAGATCATGAACCCAGGTTGTCTGTGGCCTCCCATCCCACCTCTTGAATCCCCTGACCCTCTCCCCATCCCGCTCCAACTCTCCTGCTCTCTCATCTTACACAGTGGGAACACCCATTCCCCAGGACTCACTGGTCAGCGGGTCAATGCTCTGGGGAAACTGGTACTTCTTCCAGGGGCGGTGTTTGAACTTGCAGCAGAGCATGTCGCAATAGTGCTCCTCTTCCACTGGCTCGGCTTCAGCGGGCTTTGTGTCTGGAGCTGGCTCTGGGGCTTTCTTGGCTGGGGCTGTGGGATGACATTGGTGACCATCTGAACCAGCCCTGAGGCCCAGGTAGAGGATGCAGAGAGAAGGGTCCCAACTGCAGACCTTGGATCCAGATCTGAGAGGACCCTGGCACCATTATACAAGCTACTGCAAGCTCTGTGTGCAGAACCCAAGGTGCTCTTCTGGAGTGAACTCCACAACCCTCCTCAACAGCAAC
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CATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGATGTCAGGAGTTCGAGACCAGACTGCCCAACATGGTGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGTGTGGTGACGCACACTTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGGAGTGCTTGAACGAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGAACTCCAGCCTGGGAGACAGAGTTAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAGAAAGATAACTTCTGGGGGCTACCCAGCCTGTGCTGGTCTCCTGGGGCTTGTGGTTTGGAGGACACTCCCACAGGGACCAGCATCCCTCCGTGTGGCAGAAACCACATCTCATGAACGCCCCAGGCACCCAGGGCCCTCTGAGGCACCCCCTTCTGAAACCCCGCAGACGCTAAACCTTGCATGCCCGGCACACACCTTGAAGCGGCGAGACTTCAGGTAGTTATTTCGCATGTCCTTTTTGTCCGTCTGAAAGAAAGGGAATGATGATGGTGAAATGACCTTACAGCTTAATCTCTGACCCTGTGGAGCAATTGTGAAACTTCCCCAAGAACCCCACCCTGAAACGAGCATAACAGCCCAAGGACCATCTGAGCCTTGGTGAAAGCCTTGAGTTTTATGGGTGGAGAGGCCCAGCCCCCAGGGAGGAGGGATCTGTTCTGGTCACCCAGCTAGATCCTGATTTCTTGGGTGGAAAGCAAGGACATTAAGCTTATTCCCTCTGCCCATTGGTCTTACCTGGACCATTTGCACATCTGTTTACTAAGGAATTGGTAGTCACTCTGATCAGGCCAGAAAAGAGGTTCTCCAAGGAAATCTCTTTACTTTTTACTTTACTCTCTTTAAATCTCTCCAAGGAAAATCGTTTACAGGCAAAACCTGAGCTTGTCTGCACACAGCAAAACAGGCACTGCCGGGGTGGAATTTTGGAAAGTGACCCACACTGGGAGACAGGGACTGTGTCTCCTGTTCCTGAGAAGTCACAGTCAGGGCCTCAGTTTCCTCCCTGGTAAGGCAGGGGTGGTGCACGGGGCTGGACCAGAGGCCAGGGTCTCAAATTGGCCCAAGTAGGAGAGCATCAGTGTGTTTTTGCAGGACCCCTGGGAGAAGTCAATTGCCAGTGGATACCTGTGCTGAGCGCCCCGCATGCATCGTTTCAACCAATCCTCATGGCAACACTGGGAGGTGGAAGCTATTACTAGCCCCATTCTACAGATGAGGAAACAGAGGCGATTCAGCTAGTTGTGGTGGAGGTGGGATTCAAACCAGGTACATCCTCACTAAAGACCATTCCCTGGACCACTTCTCTATCTTTGATTCTGTCAAGTGGTCCAGGAACTATTTCACCTATGAGCAATATCTGATGTGCGTAATTTGAACGTATCAAAGGCATGCAAAATAAACAACCATGCTATTGAACAAGCACAGCAGCCGTTCTTGAGATTTCCTTATTCACTTATTTTGTCATCTATGACAGCATCAGGGGTCAGTGCCCTGGAGGCTCTGGCTGAGCGGTCTGCCCCCGGTCACCCCAACACCACCTGCCTGTGACTCACAATGATGTCCCCGCCTCTGACAAACTGCAGGCGTGTCTGGAACACGGTGATGTCCAGGAAGTAGATGAGGTCGCATAGGTAATCCATCAGCAGCCAGTGGTGGATGTTGTCCGGGGTCTGGTAGGGGAAGGCCCAGTGCACGGGAATCAGCCAACAGTTCCAATTCCAGGCCATCACCACGAAGAACAGCCATAGGACATACATCAGGTCTGTGGGGAAGGTTGACGGGGACGCTAGAGCATCAGCCAGGCAAGGCTCTTCACCAGTTGGATCAGGTAGGGTTTTGTTCTTTCTACTCCTTCAACTACTACATGTGGCACTTTTGTAAGAGTGTGTGTATGTGTGTGTGTGTGTATATATACACACACACACACACACACACATACACACACACACAACTCTCTGCTTTAGGAGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCTAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTAAGACCAGCCTGGACAACATAGCAAGACCCCCATCTCTACTTAAAAAAAAAAACACAACTATCTGTTTTAAAAATAAATTACTGCTAATCCCTAATAAATCAGAGTACTCTCAGGAGGGACTATGCTGGTATTATAAGATAATAGGCAGCCAACTGGAAAACTCATTTGCTTTTATTCTTCTTTAATTTTTTCCCAAAATGTATTTTCTTCCTCAGTAAATACAGAATAGTAAATAATGCATGAAGGATGGACAGATAGATGGACAGACAGGTGAATGCATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTATTCCAGATCATCTGGTTATTTATTTATTTATTTATTTATTTATTTATTTATTTACTATTTTTGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGCAGTTCTTTCACTACAGCCTCTCACAGTGCTGGGATTACAGGTGTGAGCCAATGTACCCAGCCCATCAGGTTATTTAAAGAATCCAGTGGACACCAGGGTTGAAGTCCTGCCCCCCAAATGTGTGACCTTGAGAAAGTCCCTCTCTGGCACCTGCCCTCTTCTGAGAAATCACAGGAAAAGGTCAGATAAGAAAGGCAGGGAGCCCTCTGTAAACTCTAAAGTGCTATGCACATATGAAGTGGGTTATTTCTGAGGAATATGAAGTGGGCTTAAAGGGAAGCAAGAGGAATTCACATTCCTGCTCTTTTTCTGTTCAGAGCAGGAGCTCTAGGAAAAGGCCAGCACGACCAGAGTGAAAAAGGACTTGGCCAAGAGTCAGGAGTCCTGGGTCCGCACTAACTAGTTGCATCTTTACCCTGGCTGACTTATCTGTACCTTAGTTTCCTCATCTGTAAAATGGGTATGATCTTATGTTCCTATTCCAGGGACTTTTGTTGTTGTTTTTAAGACAGAGTCTCACTCTGTCACCTAGGTTGGAATGCAATTGTGCGATCTTGACTCAGTGCACTCTCCACCTCCTGGATTCAAATGATTCTCCTGCTTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAATAGAGGCAGGGTTTCGTCATGTTAGCCAGGCTGGGTTTGTTTTGAGAATCAGGCAAGAAACTGTGGAATACTTTTGAAAGGTATAAAAGATCATGAACCCAGGTTGTCTGTGGCCTCCCATCCCACCTCTTGAATCCCCTGACCCTCTCCCCATCCCGCTCCAACTCTCCTGCTCTCTCATCTTACACAGTGGGAACACCCATTCCCCAGGACTCACTGGTCAGCGGGTCAATGCTCTGGGGAAACTGGTACTTCTTCCAGGGGCGGTGTTTGAACTTGCAGCAGAGCATGTCGCAATAGTGCTCCTCTTCCACTGGCTCGGCTTCAGCGGGCTTTGTGTCTGGAGCTGGCTCTGGGGCTTTCTTGGCTGGGGCTGTGGGATGACATTGGTGACCATCTGAACCAGCCCTGAGGCCCAGGTAGAGGATGCAGAGAGAAGGGTCCCAACTGCAGACCTTGGATCCAGATCTGAGAGGACCCTGGCACCATTATACAAGCTACTGCAAGCTCTGTGTGCAGAACCCAAGGTGCTCTTCTGGAGTGAACTCCACAACCCTCCTCAACAGCAAC
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Task1_train_22764
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The gene CNGB1 (cyclic nucleotide gated channel subunit beta 1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Retinitis pigmentosa 45
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ATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGATGTCAGGAGTTCGAGACCAGACTGCCCAACATGGTGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGTGTGGTGACGCACACTTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGGAGTGCTTGAACGAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGAACTCCAGCCTGGGAGACAGAGTTAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAGAAAGATAACTTCTGGGGGCTACCCAGCCTGTGCTGGTCTCCTGGGGCTTGTGGTTTGGAGGACACTCCCACAGGGACCAGCATCCCTCCGTGTGGCAGAAACCACATCTCATGAACGCCCCAGGCACCCAGGGCCCTCTGAGGCACCCCCTTCTGAAACCCCGCAGACGCTAAACCTTGCATGCCCGGCACACACCTTGAAGCGGCGAGACTTCAGGTAGTTATTTCGCATGTCCTTTTTGTCCGTCTGAAAGAAAGGGAATGATGATGGTGAAATGACCTTACAGCTTAATCTCTGACCCTGTGGAGCAATTGTGAAACTTCCCCAAGAACCCCACCCTGAAACGAGCATAACAGCCCAAGGACCATCTGAGCCTTGGTGAAAGCCTTGAGTTTTATGGGTGGAGAGGCCCAGCCCCCAGGGAGGAGGGATCTGTTCTGGTCACCCAGCTAGATCCTGATTTCTTGGGTGGAAAGCAAGGACATTAAGCTTATTCCCTCTGCCCATTGGTCTTACCTGGACCATTTGCACATCTGTTTACTAAGGAATTGGTAGTCACTCTGATCAGGCCAGAAAAGAGGTTCTCCAAGGAAATCTCTTTACTTTTTACTTTACTCTCTTTAAATCTCTCCAAGGAAAATCGTTTACAGGCAAAACCTGAGCTTGTCTGCACACAGCAAAACAGGCACTGCCGGGGTGGAATTTTGGAAAGTGACCCACACTGGGAGACAGGGACTGTGTCTCCTGTTCCTGAGAAGTCACAGTCAGGGCCTCAGTTTCCTCCCTGGTAAGGCAGGGGTGGTGCACGGGGCTGGACCAGAGGCCAGGGTCTCAAATTGGCCCAAGTAGGAGAGCATCAGTGTGTTTTTGCAGGACCCCTGGGAGAAGTCAATTGCCAGTGGATACCTGTGCTGAGCGCCCCGCATGCATCGTTTCAACCAATCCTCATGGCAACACTGGGAGGTGGAAGCTATTACTAGCCCCATTCTACAGATGAGGAAACAGAGGCGATTCAGCTAGTTGTGGTGGAGGTGGGATTCAAACCAGGTACATCCTCACTAAAGACCATTCCCTGGACCACTTCTCTATCTTTGATTCTGTCAAGTGGTCCAGGAACTATTTCACCTATGAGCAATATCTGATGTGCGTAATTTGAACGTATCAAAGGCATGCAAAATAAACAACCATGCTATTGAACAAGCACAGCAGCCGTTCTTGAGATTTCCTTATTCACTTATTTTGTCATCTATGACAGCATCAGGGGTCAGTGCCCTGGAGGCTCTGGCTGAGCGGTCTGCCCCCGGTCACCCCAACACCACCTGCCTGTGACTCACAATGATGTCCCCGCCTCTGACAAACTGCAGGCGTGTCTGGAACACGGTGATGTCCAGGAAGTAGATGAGGTCGCATAGGTAATCCATCAGCAGCCAGTGGTGGATGTTGTCCGGGGTCTGGTAGGGGAAGGCCCAGCGCACGGGAATCAGCCAACAGTTCCAATTCCAGGCCATCACCACGAAGAACAGCCATAGGACATACATCAGGTCTGTGGGGAAGGTTGACGGGGACGCTAGAGCATCAGCCAGGCAAGGCTCTTCACCAGTTGGATCAGGTAGGGTTTTGTTCTTTCTACTCCTTCAACTACTACATGTGGCACTTTTGTAAGAGTGTGTGTATGTGTGTGTGTGTGTATATATACACACACACACACACACACACATACACACACACACAACTCTCTGCTTTAGGAGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCTAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTAAGACCAGCCTGGACAACATAGCAAGACCCCCATCTCTACTTAAAAAAAAAAACACAACTATCTGTTTTAAAAATAAATTACTGCTAATCCCTAATAAATCAGAGTACTCTCAGGAGGGACTATGCTGGTATTATAAGATAATAGGCAGCCAACTGGAAAACTCATTTGCTTTTATTCTTCTTTAATTTTTTCCCAAAATGTATTTTCTTCCTCAGTAAATACAGAATAGTAAATAATGCATGAAGGATGGACAGATAGATGGACAGACAGGTGAATGCATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTATTCCAGATCATCTGGTTATTTATTTATTTATTTATTTATTTATTTATTTATTTACTATTTTTGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGCAGTTCTTTCACTACAGCCTCTCACAGTGCTGGGATTACAGGTGTGAGCCAATGTACCCAGCCCATCAGGTTATTTAAAGAATCCAGTGGACACCAGGGTTGAAGTCCTGCCCCCCAAATGTGTGACCTTGAGAAAGTCCCTCTCTGGCACCTGCCCTCTTCTGAGAAATCACAGGAAAAGGTCAGATAAGAAAGGCAGGGAGCCCTCTGTAAACTCTAAAGTGCTATGCACATATGAAGTGGGTTATTTCTGAGGAATATGAAGTGGGCTTAAAGGGAAGCAAGAGGAATTCACATTCCTGCTCTTTTTCTGTTCAGAGCAGGAGCTCTAGGAAAAGGCCAGCACGACCAGAGTGAAAAAGGACTTGGCCAAGAGTCAGGAGTCCTGGGTCCGCACTAACTAGTTGCATCTTTACCCTGGCTGACTTATCTGTACCTTAGTTTCCTCATCTGTAAAATGGGTATGATCTTATGTTCCTATTCCAGGGACTTTTGTTGTTGTTTTTAAGACAGAGTCTCACTCTGTCACCTAGGTTGGAATGCAATTGTGCGATCTTGACTCAGTGCACTCTCCACCTCCTGGATTCAAATGATTCTCCTGCTTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAATAGAGGCAGGGTTTCGTCATGTTAGCCAGGCTGGGTTTGTTTTGAGAATCAGGCAAGAAACTGTGGAATACTTTTGAAAGGTATAAAAGATCATGAACCCAGGTTGTCTGTGGCCTCCCATCCCACCTCTTGAATCCCCTGACCCTCTCCCCATCCCGCTCCAACTCTCCTGCTCTCTCATCTTACACAGTGGGAACACCCATTCCCCAGGACTCACTGGTCAGCGGGTCAATGCTCTGGGGAAACTGGTACTTCTTCCAGGGGCGGTGTTTGAACTTGCAGCAGAGCATGTCGCAATAGTGCTCCTCTTCCACTGGCTCGGCTTCAGCGGGCTTTGTGTCTGGAGCTGGCTCTGGGGCTTTCTTGGCTGGGGCTGTGGGATGACATTGGTGACCATCTGAACCAGCCCTGAGGCCCAGGTAGAGGATGCAGAGAGAAGGGTCCCAACTGCAGACCTTGGATCCAGATCTGAGAGGACCCTGGCACCATTATACAAGCTACTGCAAGCTCTGTGTGCAGAACCCAAGGTGCTCTTCTGGAGTGAACTCCACAACCCTCCTCAACAGCAACA
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ATGGGGGTAAAACGGATGACTCCAGGGTGGAAGGTGAGGGGAGTGAGAGGCGGAGTCTCTCCCTTCCATGGAAAGGTGAGGTCAGAATGCCCCAGTAGAGCTTAAAACTAGAGGGCAGAAGGTGTCCCACCGACAAGCCCTTGTTTGGCTTCAAAGCCCGTGTTGCCAGCCCCAAGGGCAGCTTCATTATCCTCGATAGTGGCTGCTGTGCCATACAGTAAGGGGCGGGAGTGGTACAGACACAATGAAAGGTGGCTTCTGGCCAGGCACGGTGGCTTATGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGATGTCAGGAGTTCGAGACCAGACTGCCCAACATGGTGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCTGGGTGTGGTGACGCACACTTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGGAGTGCTTGAACGAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGAACTCCAGCCTGGGAGACAGAGTTAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAGAAAGATAACTTCTGGGGGCTACCCAGCCTGTGCTGGTCTCCTGGGGCTTGTGGTTTGGAGGACACTCCCACAGGGACCAGCATCCCTCCGTGTGGCAGAAACCACATCTCATGAACGCCCCAGGCACCCAGGGCCCTCTGAGGCACCCCCTTCTGAAACCCCGCAGACGCTAAACCTTGCATGCCCGGCACACACCTTGAAGCGGCGAGACTTCAGGTAGTTATTTCGCATGTCCTTTTTGTCCGTCTGAAAGAAAGGGAATGATGATGGTGAAATGACCTTACAGCTTAATCTCTGACCCTGTGGAGCAATTGTGAAACTTCCCCAAGAACCCCACCCTGAAACGAGCATAACAGCCCAAGGACCATCTGAGCCTTGGTGAAAGCCTTGAGTTTTATGGGTGGAGAGGCCCAGCCCCCAGGGAGGAGGGATCTGTTCTGGTCACCCAGCTAGATCCTGATTTCTTGGGTGGAAAGCAAGGACATTAAGCTTATTCCCTCTGCCCATTGGTCTTACCTGGACCATTTGCACATCTGTTTACTAAGGAATTGGTAGTCACTCTGATCAGGCCAGAAAAGAGGTTCTCCAAGGAAATCTCTTTACTTTTTACTTTACTCTCTTTAAATCTCTCCAAGGAAAATCGTTTACAGGCAAAACCTGAGCTTGTCTGCACACAGCAAAACAGGCACTGCCGGGGTGGAATTTTGGAAAGTGACCCACACTGGGAGACAGGGACTGTGTCTCCTGTTCCTGAGAAGTCACAGTCAGGGCCTCAGTTTCCTCCCTGGTAAGGCAGGGGTGGTGCACGGGGCTGGACCAGAGGCCAGGGTCTCAAATTGGCCCAAGTAGGAGAGCATCAGTGTGTTTTTGCAGGACCCCTGGGAGAAGTCAATTGCCAGTGGATACCTGTGCTGAGCGCCCCGCATGCATCGTTTCAACCAATCCTCATGGCAACACTGGGAGGTGGAAGCTATTACTAGCCCCATTCTACAGATGAGGAAACAGAGGCGATTCAGCTAGTTGTGGTGGAGGTGGGATTCAAACCAGGTACATCCTCACTAAAGACCATTCCCTGGACCACTTCTCTATCTTTGATTCTGTCAAGTGGTCCAGGAACTATTTCACCTATGAGCAATATCTGATGTGCGTAATTTGAACGTATCAAAGGCATGCAAAATAAACAACCATGCTATTGAACAAGCACAGCAGCCGTTCTTGAGATTTCCTTATTCACTTATTTTGTCATCTATGACAGCATCAGGGGTCAGTGCCCTGGAGGCTCTGGCTGAGCGGTCTGCCCCCGGTCACCCCAACACCACCTGCCTGTGACTCACAATGATGTCCCCGCCTCTGACAAACTGCAGGCGTGTCTGGAACACGGTGATGTCCAGGAAGTAGATGAGGTCGCATAGGTAATCCATCAGCAGCCAGTGGTGGATGTTGTCCGGGGTCTGGTAGGGGAAGGCCCAGCACACGGGAATCAGCCAACAGTTCCAATTCCAGGCCATCACCACGAAGAACAGCCATAGGACATACATCAGGTCTGTGGGGAAGGTTGACGGGGACGCTAGAGCATCAGCCAGGCAAGGCTCTTCACCAGTTGGATCAGGTAGGGTTTTGTTCTTTCTACTCCTTCAACTACTACATGTGGCACTTTTGTAAGAGTGTGTGTATGTGTGTGTGTGTGTATATATACACACACACACACACACACACATACACACACACACAACTCTCTGCTTTAGGAGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCTAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTAAGACCAGCCTGGACAACATAGCAAGACCCCCATCTCTACTTAAAAAAAAAAACACAACTATCTGTTTTAAAAATAAATTACTGCTAATCCCTAATAAATCAGAGTACTCTCAGGAGGGACTATGCTGGTATTATAAGATAATAGGCAGCCAACTGGAAAACTCATTTGCTTTTATTCTTCTTTAATTTTTTCCCAAAATGTATTTTCTTCCTCAGTAAATACAGAATAGTAAATAATGCATGAAGGATGGACAGATAGATGGACAGACAGGTGAATGCATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTATTCCAGATCATCTGGTTATTTATTTATTTATTTATTTATTTATTTATTTATTTACTATTTTTGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGATCTTGAACTCCTGGGCTCAAGCAGTTCTTTCACTACAGCCTCTCACAGTGCTGGGATTACAGGTGTGAGCCAATGTACCCAGCCCATCAGGTTATTTAAAGAATCCAGTGGACACCAGGGTTGAAGTCCTGCCCCCCAAATGTGTGACCTTGAGAAAGTCCCTCTCTGGCACCTGCCCTCTTCTGAGAAATCACAGGAAAAGGTCAGATAAGAAAGGCAGGGAGCCCTCTGTAAACTCTAAAGTGCTATGCACATATGAAGTGGGTTATTTCTGAGGAATATGAAGTGGGCTTAAAGGGAAGCAAGAGGAATTCACATTCCTGCTCTTTTTCTGTTCAGAGCAGGAGCTCTAGGAAAAGGCCAGCACGACCAGAGTGAAAAAGGACTTGGCCAAGAGTCAGGAGTCCTGGGTCCGCACTAACTAGTTGCATCTTTACCCTGGCTGACTTATCTGTACCTTAGTTTCCTCATCTGTAAAATGGGTATGATCTTATGTTCCTATTCCAGGGACTTTTGTTGTTGTTTTTAAGACAGAGTCTCACTCTGTCACCTAGGTTGGAATGCAATTGTGCGATCTTGACTCAGTGCACTCTCCACCTCCTGGATTCAAATGATTCTCCTGCTTCAGCCTCTCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAATAGAGGCAGGGTTTCGTCATGTTAGCCAGGCTGGGTTTGTTTTGAGAATCAGGCAAGAAACTGTGGAATACTTTTGAAAGGTATAAAAGATCATGAACCCAGGTTGTCTGTGGCCTCCCATCCCACCTCTTGAATCCCCTGACCCTCTCCCCATCCCGCTCCAACTCTCCTGCTCTCTCATCTTACACAGTGGGAACACCCATTCCCCAGGACTCACTGGTCAGCGGGTCAATGCTCTGGGGAAACTGGTACTTCTTCCAGGGGCGGTGTTTGAACTTGCAGCAGAGCATGTCGCAATAGTGCTCCTCTTCCACTGGCTCGGCTTCAGCGGGCTTTGTGTCTGGAGCTGGCTCTGGGGCTTTCTTGGCTGGGGCTGTGGGATGACATTGGTGACCATCTGAACCAGCCCTGAGGCCCAGGTAGAGGATGCAGAGAGAAGGGTCCCAACTGCAGACCTTGGATCCAGATCTGAGAGGACCCTGGCACCATTATACAAGCTACTGCAAGCTCTGTGTGCAGAACCCAAGGTGCTCTTCTGGAGTGAACTCCACAACCCTCCTCAACAGCAACA
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Task1_train_22765
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This variant impacts the gene USB1 (U6 snRNA biogenesis phosphodiesterase 1) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Poikiloderma with neutropenia
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TCAAGTTGATTGATTGTATATTATCAGGACTCTCTTAACCACAGGTGCCAGAAGCCCATGCCAGAAGCCCAACCCAAAGTGGCTTAAACCAAAGAGAAATTTATAGGCTGGTATAACTAAAAGATTCAGAGGTAGCACTGGCTCATGCATGAGTGGACCGGGGTGACAAGATATCAGATGGCACCTGACTGTCACCACCACAGGCAGACTGTTCACCATCTCAGCTCTGTCCCCTTCCTTTGTCACAATGACGAAGCCACCGCATCTCCCGGCTAATGGTGTACCAGCCTGGAAAGACAGCCTCCCTCTCTGATTGGCTTCAGCACAAGTCACAGGAATGACTGCCTGGTCTGACCCGTCTCCTGTGTGCTTTCTTTGGGAGTAAAGAGTTAACAGGCCCTTCCCCCTTCCACAGAGAGTGCTTCCCTTATCCTGCGGAAGCTCTGCCCCTGGATGAAGGAGGAGAGCGGCTATGTTAGTGCTGATGACTGGCACACTGCACTTGCGCTAGGAAGACAGCATGAACTGCACCCCTCCAGGGAAGCCACGGCCTGGGCTCCCCTGCATACAGTGGTTCCTTAACTGGGCACGAGTCCCTTGCTGGGACTTAGGAAAACTCTGCCTAAAGTCCATTGCAAGAAATACTGATCCCTGTGGGATGTATATGTGGCTGGTTCCCTTGCTCACTGAGAGACTAGAAAACAGCACCTGGACCCCTGGGCTGGTTCCCTCTGAGGAAAGGATCTGTGTCATGAGTGAAGCCCGGGCAGGTGTGGTCTGTTCAACTTTGATCATCTGGTTGAGCCTAAGGTGACCAAGAGTGGGCGGTGCACCCCTGATTCTGTTGCTGTGACTGAGGAAATGCTAAGCTCTGTTTGGCCAGGCCTGGGCAGCCTGCCTCTGGAGTAGGGGTGGAGAGCCATCCTGCAACACGAGGTTACCAGGAGAAGGAGTTTTGGTTGGGCACAGACATCCAGTGTCCACTCCAGGATGTTTGGGAGACACCTTGAGAACTCTTCCTAAAAGCTGCACTTAACCAAGCTCCTGGTGGTTCTGTGATCCCTTACATTTTCTCCAGAGGCAGAGAGTTGGCTGACTGACTTTTGCCCTTGGGCAGATTGTGAGGCTCTACCCAGCATGCTGGTATATTATGTTCCCTCAGATGGGGGTGAGACCCTTGGCCTGGGGGCTGTAAAATGATCTGTTTCTGTGAGGAGACTTTCCATGGTGAGATTGCTAGTGTCTCAGAGAATAAAGGACAGAACCAGTCCAAGTCAAAGCACTTACCTAGCTGAGCCTGACTCTTCCCGTGTTATTGATCTGAGGGGTGGGTGGGTGGGGGCATCTGTCTCGATTTCACACCAACAGACCTATTCCCCTCACGAAAGCGTCATAGGTGACAACAAGGACTCTGGAAACAGGCAGACTGACTGTTCCAATCCTGGCTCACCAAATTCAGCTTCACCATGCCTCTGTTTCTTTGTCTGTAAAATGGGCATAATTGTAGGCCTGCTCACAGAGTTGTGTGAGGATTCGAGAAACAGAGTGTGCAAAGGCTTGAGCTCAGCCCTGACACACGAAGAAATGTTGTCGTGATTGCTTAGATGAAATCGGAGTCATCTATTTTAAAAAACTGCAAGAAATGAATCAGCTGTTAAGTGGTCCATTATCACCTACTTGATCAATAAGGCTTTCTCAGTTCCCATCAGTGAAGTTGAGATAGTCTCAAATTGTTTATCGAAATGAACTGCTATTAACAAAGTAAAATTTTTACTAGCACCTGGATGATGTTGTGTGTTACTCGGGCTGGGTGATTTTAAGGTCTTGTCCAGCTCTAATGTTTAAGGTTCAGTATACCACCTGCATAATGGGGTGATAATATGAAGTGCAAAATGAGTTAACTATATTTTCAAAGTGCTGTTTTTTTTTAACATAAGCTATTTTTTCTGCTTTTTTTCTTACGATTTTTCCTGAAATATGGTCTTCTAAATTTCAGATTCTTCTTTACTGCCAACCAGGTAAAGATTTACACCAATCAAGAGAAAACCAGGTGGGTCCTCCCAACCCCCAATCACCATCAGAGGAAGATTCTTTGGTGCAAAAATTGAGTGCTTTGTTTCTGGACTTGTTTGTCCCATTTTTTGTTTGCTTTTAACCAACTCTATGACTATAAAGGCAGCTATCCCCAAATCTGAACCTTTCTTTAAGAAAAATAACTGGGAGATCCCAGGCACAGTAGCGCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAAGCAGGTGGATAGCTTGAGCTCAGGAGTTCCAGACCAGCCTGGGCAACATGGCCAAACCGTGTCTCTATGAAAAATACAAAAATTAGCTGAGCATGGTAGTGTGTGCCTGTAGTTCCAGCTACTTGGGAGGCTGAGATGGGAGGATCGCTTGAGCCCTGGAGGTCGAGGCTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAATAAAAGGCCAGGTGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCCTGACATGGCGAAACCCCATCTCCACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCTAGAGGAGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTATCCTGGGTGACAAGAGTGAAACTCTGTCTCAAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATGACTGGAGGAGCATGTAGTGGGGTGGTGCCCAGAGATTGAGAGAAGCATCTTGGTTTAGTGAAAACCTGTGAAAGTCAGGAAACCTGTTTCTGCCCAGCTCCATCCCAGTTGTGGTGTTTAGTCCGTGTCTTCATCTCTGTGACCTTTCATTTTCACACTGGCACACGCCTCCCAACATCCACTGTTGGGCAGTTGTAAGGCTCAAATGAGCCCCAAGGCCTTTGAAAAGTTAAAAGTATTAAAGTGTTAGATGAACATAAGAAGAAATGATTATCCTGCCTTCAAAGCGAGCCTCCCTGTCTGATGCACTCACTGGGCCACCTTCTCTGAGCACTTCTGAAAGGGGCCTCATTTATTCATTCATTTATTCCATGCTGCACAAGTTTGTTAAGCACCCACTTGTGCCAGGCATTTGCTGTACACTAAGGATTCATCAGTGAAGAGGTAGACACAGCCCCTGCTCTTTTCAATCTCATATTCAGAGGGGAGACAGATAATAAACAAGTAATGAGAGTGTTTGTTAATAACTGTGGTGTGATATGGTCAGGAGTGGGTAGTCCAGGAGGGTACCAGGGAAGTGGCCAGGGAGATGGCATTTGATGGTGACCTGAGAATGAGAAGCCAGCCTTGGGAAGAGCTGTTGCAAGAGCTTCAAGCAGAGGACATAGCAAACTAAGTGACTCCGAGGCAGGGAAGATTTCAGCATGTTTGAGGAGGCCAGTGAGGCAGACCCCAGAAAGCACGAGGGAGAATGATAGGAGATGAGATGGGTAGGGTTAGCCCATCCAGGGGCTGCAAGCTCAAGTAAGGAGTTTGAATTTTCAGTATAATGGAAGCCATTGGAGGGATTTGAACAGAGGAGAGGCATGACCTGATCTATATCTGGGGATGTCAGTCTGGCTAGTGGTGTGTCTGTGGCCATGGAGTCTGGGGGCAAGATAGAAGGGAGCAAGAGTGGATGCAGGGAAACCAGAGAGGAGCCAGGTGTCATTGTCCAGGTGAGGGACCATTGGTGGCCTAGATTAGGGTGATGGCCATGGAAGACCAAGAGGTGGACACATTGGAGATACACTAGAGGCAGAAGCAACCAAATTACCAATGGGTTGGATTTATGTGAAGCAAGGGGAAGACGAACATTGATTCCTGGGTTTGAGGCTAGAACAACTGGCCCCGTTTTCTGTGATAAGAGACACTGGTGGGATGAAAAGCAAAAGTGCTGCTTTGTACCTGTTTGTTTGTACCTGCTAG
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TCAAGTTGATTGATTGTATATTATCAGGACTCTCTTAACCACAGGTGCCAGAAGCCCATGCCAGAAGCCCAACCCAAAGTGGCTTAAACCAAAGAGAAATTTATAGGCTGGTATAACTAAAAGATTCAGAGGTAGCACTGGCTCATGCATGAGTGGACCGGGGTGACAAGATATCAGATGGCACCTGACTGTCACCACCACAGGCAGACTGTTCACCATCTCAGCTCTGTCCCCTTCCTTTGTCACAATGACGAAGCCACCGCATCTCCCGGCTAATGGTGTACCAGCCTGGAAAGACAGCCTCCCTCTCTGATTGGCTTCAGCACAAGTCACAGGAATGACTGCCTGGTCTGACCCGTCTCCTGTGTGCTTTCTTTGGGAGTAAAGAGTTAACAGGCCCTTCCCCCTTCCACAGAGAGTGCTTCCCTTATCCTGCGGAAGCTCTGCCCCTGGATGAAGGAGGAGAGCGGCTATGTTAGTGCTGATGACTGGCACACTGCACTTGCGCTAGGAAGACAGCATGAACTGCACCCCTCCAGGGAAGCCACGGCCTGGGCTCCCCTGCATACAGTGGTTCCTTAACTGGGCACGAGTCCCTTGCTGGGACTTAGGAAAACTCTGCCTAAAGTCCATTGCAAGAAATACTGATCCCTGTGGGATGTATATGTGGCTGGTTCCCTTGCTCACTGAGAGACTAGAAAACAGCACCTGGACCCCTGGGCTGGTTCCCTCTGAGGAAAGGATCTGTGTCATGAGTGAAGCCCGGGCAGGTGTGGTCTGTTCAACTTTGATCATCTGGTTGAGCCTAAGGTGACCAAGAGTGGGCGGTGCACCCCTGATTCTGTTGCTGTGACTGAGGAAATGCTAAGCTCTGTTTGGCCAGGCCTGGGCAGCCTGCCTCTGGAGTAGGGGTGGAGAGCCATCCTGCAACACGAGGTTACCAGGAGAAGGAGTTTTGGTTGGGCACAGACATCCAGTGTCCACTCCAGGATGTTTGGGAGACACCTTGAGAACTCTTCCTAAAAGCTGCACTTAACCAAGCTCCTGGTGGTTCTGTGATCCCTTACATTTTCTCCAGAGGCAGAGAGTTGGCTGACTGACTTTTGCCCTTGGGCAGATTGTGAGGCTCTACCCAGCATGCTGGTATATTATGTTCCCTCAGATGGGGGTGAGACCCTTGGCCTGGGGGCTGTAAAATGATCTGTTTCTGTGAGGAGACTTTCCATGGTGAGATTGCTAGTGTCTCAGAGAATAAAGGACAGAACCAGTCCAAGTCAAAGCACTTACCTAGCTGAGCCTGACTCTTCCCGTGTTATTGATCTGAGGGGTGGGTGGGTGGGGGCATCTGTCTCGATTTCACACCAACAGACCTATTCCCCTCACGAAAGCGTCATAGGTGACAACAAGGACTCTGGAAACAGGCAGACTGACTGTTCCAATCCTGGCTCACCAAATTCAGCTTCACCATGCCTCTGTTTCTTTGTCTGTAAAATGGGCATAATTGTAGGCCTGCTCACAGAGTTGTGTGAGGATTCGAGAAACAGAGTGTGCAAAGGCTTGAGCTCAGCCCTGACACACGAAGAAATGTTGTCGTGATTGCTTAGATGAAATCGGAGTCATCTATTTTAAAAAACTGCAAGAAATGAATCAGCTGTTAAGTGGTCCATTATCACCTACTTGATCAATAAGGCTTTCTCAGTTCCCATCAGTGAAGTTGAGATAGTCTCAAATTGTTTATCGAAATGAACTGCTATTAACAAAGTAAAATTTTTACTAGCACCTGGATGATGTTGTGTGTTACTCGGGCTGGGTGATTTTAAGGTCTTGTCCAGCTCTAATGTTTAAGGTTCAGTATACCACCTGCATAATGGGGTGATAATATGAAGTGCAAAATGAGTTAACTATATTTTCAAAGTGCTGTTTTTTTTTAACATAAGCTATTTTTTCTGCTTTTTTTCTTACGATTTTTCCTGAAATATGGTCTTCTAAATTTCAGATTCTTCTTTACTGCCAACCAGGTAAAGATTTACACCAATCAAGAGAAAACCGGGTGGGTCCTCCCAACCCCCAATCACCATCAGAGGAAGATTCTTTGGTGCAAAAATTGAGTGCTTTGTTTCTGGACTTGTTTGTCCCATTTTTTGTTTGCTTTTAACCAACTCTATGACTATAAAGGCAGCTATCCCCAAATCTGAACCTTTCTTTAAGAAAAATAACTGGGAGATCCCAGGCACAGTAGCGCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAAGCAGGTGGATAGCTTGAGCTCAGGAGTTCCAGACCAGCCTGGGCAACATGGCCAAACCGTGTCTCTATGAAAAATACAAAAATTAGCTGAGCATGGTAGTGTGTGCCTGTAGTTCCAGCTACTTGGGAGGCTGAGATGGGAGGATCGCTTGAGCCCTGGAGGTCGAGGCTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAATAAAAGGCCAGGTGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCCTGACATGGCGAAACCCCATCTCCACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCTAGAGGAGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTATCCTGGGTGACAAGAGTGAAACTCTGTCTCAAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATGACTGGAGGAGCATGTAGTGGGGTGGTGCCCAGAGATTGAGAGAAGCATCTTGGTTTAGTGAAAACCTGTGAAAGTCAGGAAACCTGTTTCTGCCCAGCTCCATCCCAGTTGTGGTGTTTAGTCCGTGTCTTCATCTCTGTGACCTTTCATTTTCACACTGGCACACGCCTCCCAACATCCACTGTTGGGCAGTTGTAAGGCTCAAATGAGCCCCAAGGCCTTTGAAAAGTTAAAAGTATTAAAGTGTTAGATGAACATAAGAAGAAATGATTATCCTGCCTTCAAAGCGAGCCTCCCTGTCTGATGCACTCACTGGGCCACCTTCTCTGAGCACTTCTGAAAGGGGCCTCATTTATTCATTCATTTATTCCATGCTGCACAAGTTTGTTAAGCACCCACTTGTGCCAGGCATTTGCTGTACACTAAGGATTCATCAGTGAAGAGGTAGACACAGCCCCTGCTCTTTTCAATCTCATATTCAGAGGGGAGACAGATAATAAACAAGTAATGAGAGTGTTTGTTAATAACTGTGGTGTGATATGGTCAGGAGTGGGTAGTCCAGGAGGGTACCAGGGAAGTGGCCAGGGAGATGGCATTTGATGGTGACCTGAGAATGAGAAGCCAGCCTTGGGAAGAGCTGTTGCAAGAGCTTCAAGCAGAGGACATAGCAAACTAAGTGACTCCGAGGCAGGGAAGATTTCAGCATGTTTGAGGAGGCCAGTGAGGCAGACCCCAGAAAGCACGAGGGAGAATGATAGGAGATGAGATGGGTAGGGTTAGCCCATCCAGGGGCTGCAAGCTCAAGTAAGGAGTTTGAATTTTCAGTATAATGGAAGCCATTGGAGGGATTTGAACAGAGGAGAGGCATGACCTGATCTATATCTGGGGATGTCAGTCTGGCTAGTGGTGTGTCTGTGGCCATGGAGTCTGGGGGCAAGATAGAAGGGAGCAAGAGTGGATGCAGGGAAACCAGAGAGGAGCCAGGTGTCATTGTCCAGGTGAGGGACCATTGGTGGCCTAGATTAGGGTGATGGCCATGGAAGACCAAGAGGTGGACACATTGGAGATACACTAGAGGCAGAAGCAACCAAATTACCAATGGGTTGGATTTATGTGAAGCAAGGGGAAGACGAACATTGATTCCTGGGTTTGAGGCTAGAACAACTGGCCCCGTTTTCTGTGATAAGAGACACTGGTGGGATGAAAAGCAAAAGTGCTGCTTTGTACCTGTTTGTTTGTACCTGCTAG
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Task1_train_22766
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This genomic variant is located on Chromosome 16, within the CNOT1 (CCR4-NOT transcription complex subunit 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Vissers-Bodmer syndrome
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AGGAACATTGCGTGCAAACTCTTCGTAAACAGCCAACTGCTTTGGGTCCACACCACCAACCTTGAAAGAAGAAAACCTATTTTGACAGAATTCACTCAATAATCAAAATAAACTGTTTTGAAAGTGGAAAGTCTGCATGTGGGTAAGCTCAGGGACACAAGAGTCATTACAACATATAACAGCATGATTAAGCATGCACGCACACACAAATGCAGTTCAGAAGAGGGCTTCTCATTTCCCTGAATCCTGCTAAGAGTCACCTCATTTATAAATTAACTGAGAGTTTCTCTTGGAAAATGCCTCACATGGGACGATGCCAGTGCAATTCTCCCTTGAAGCTGGTAAATATTATCAGATTTCTCACTGTCTCACTGGGAACAATAAGCAACCATTAATGTGAGAAGCCCAAGTTGGGAAACATGAAAACTAGCAGGCACATGAACTCCTTAGAGTAATAACACTTCAACAACTCTGGAGGAGCAAGGGAATTTAGAGCTATTTCCATACCTCCTCCACAGGCAGCCATTCAGTGAAATGCTATCAAGTTAAGATGTTTTCTCATAAACAATATTTAACCCTGCTGTCCTAATTCCAGTAAGGAGTTCAATCAACAACAACATTAAAAATAAAACAAAGATGGGACGGGGAAAGACAGAGCCCCAATTCTCACTTTCAGCCTGATTTGCTCTGGCATCCGTTCAGCTTGATATGTTAAAACAACAGGATCACAGTATCTGCGTCCTTCTTGCCTAGCATGTTTTCTCAGCTCAAATTCCTGCAAACAAAAAAAGTCACTGAGGTTCTTGTTATAAGGCACTTCCCTAAATTAAAAAAGAAAATCTTAAAAGGCAAATTCTAAACACTTACAGTTGCTAATCTCTTGTCCATCTCAGGGCCTGCTTTTTCTACTGCAGTCTTCTGAATAAAACAGCAAGCCAACTCACAATTGTCCTGAGCTAATTGAGCAGCTGCCTGATCCATCATTTCTCTTTGTTGTGGGGAAGCAGTCTATTAATGGAGGTGGGTGGGGGGGTGGGGGGAATAGAAGGAAAAAGACTTGAAAGTTGATGTGGACAGACAGGATAGTAGAAAATGCAGTGCATTTGGCAAATGCATTTTAAGTTCTGACTCTACTTATGAACAAGCTGTGATCTTGAAACAGTCTTAACAGCTTCCTCACTTTTAAGACAAAAATATCCTAGACACCTTATCAGTTTATTGTGAACATGCCTTAAAATCAGTAAAGCAGGCCAGACGCGGTGGCTCACACCTCTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACATGGTGAAGCCACTTCTCTACTAAAAAAATACATAAATTAGTGGGGCGTGGTAGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCACGAGAATCAGTTGAACCTCAGAGGTGGAGGATGCAGTGAGCCAAGACTGCACCACTGTACTCTAGCCTAAGCTACAGAGTGAGACCCTGTCTCATGAAACATTAAAAAAAAGGCAAAAAACAACCAAAAAAAATCATTAAAGCAGTAAACAAATTATTAATCATGATACCTGAATTATTAACCATGATATCTGAGACTCAAAACTAGTAAGTGAATTATTTGAAAAGTGTGTGCACATGCAACATCACTTTAAGTCATTTTGTATCGGCCTTCTCAAACAGCTTTCATCCTTCCTGGTTAACAGAAATGAGATTGTCAGATATCACATTTCCTTTTTAAATCTTAATTTATTTAAACCAACAAATATTTGGGTATCTACTATCTGTCAAACATCGTGTTGAGAATATAACAGAAAAAAAAAAAAACACACAGACATGATGCTTTGCCTCACAGAATTACAATCTAAAATGATGGAAGACATCAAACAAATATGGTGATTATTAAGAATAAGTGGTAACGCCCAGTGCCATATATAGACAAAGAAAAAAATTATTACAGACAAGCAGTAATACGTTTTGTACCTATACCAAGGAAATAGCCAACTTACACGAAGGGCTGAGGCAAAACTGTTTTTTAAGTTGGTAGATATGCTCATGAGCAAAGGTTCCCTGCATGTAATCATAGCCATTCCAGCTGTCAAGTTACGCATCATGTGATGAGCTGCTATTCGCATTCGAGATTCCTCCGAATCCAGGGCAAAATCCTTCCTGACTATTTGCTCACAAGTAGTCATGGCAATCTTAATTGATCGATCCACCACAGGATGGACCAGCTCCTGGACAGCCCGTTCAATTGCCTGACGCACACACTGCTTCAACTGTGGATGGGCCTGAAACAAGGGAATCTGGGGGGTTGGGGAGGACAAAGTCAACACCTTGTTTAAATAAGACAATCCAATTCCTACTGGCAATCACATTCATGATTTTGTAAATCAAGATTAACCAAAAACTACCAGTTTCTACTTAAAGTTAACCAATGGAAAATTCGGGTAACAGAAACTGAGCTCCATACAGGGAAATGTATTCAGTATACCCTGTGATACACAATAATAGATATGTCTTTTTTTTAAATCCAAGTTTAATGGACAAACTGTTCATTACAATATGCATTAACTACTTAAAGACACACTGCTGGCTTATTTAAAATTTGTGGCTCAAGTGCTCTTAAAAGAAAGCAACTTCTCCACTAGCTTGGGAAAATGTAAAAAGAATAAAGTTTATAGAAAAAAGACTTCTTACAAAAACTATTAAAATTAATTCATCAGAATAGTGAGCATTTTACAGTGCCCACTGAAGTATTTGGCTTCATTTGAAAGGCTGTTTCTAATCTTTTATTGCAGGTGTAAATTATGCCCCAAAACTTACTTGGTCCCTTTAACTTGTTGAATTAAAAAAAAAAAAAATTAAACTAGCATATAATAGTGTTCACAACACTAAGAGTATTCTAAAGATGAATCACAATTTCTGGATCTAGGTGTCCCACTGCCTCTCACTCCACCCCTCTAAAACTAAGTACCATGTCTATAGGAGTGGGGATGGGGGGACAAGGATAAAATGATTTCTCTGATACCCTTTCAATTCCTTTTAATAAAAAGTTCAATGTATTAATGTTACTCTTGTATTTGTGAACATTTTCAGTTTCTAAAAAGTAAGGACAATGAAAACTCCACTCACCTGATTCTGTATTATATATTCTGTTAAGTAGAATAAAAGACTAAAGATAACAATAAAATGTCCCCTTGAATGTACAAAGCAAATACTAACTATAGGAAAAAGGACTGATCAGAGGTCATCTTACATGACCATATTGTATCAGACCTCCTTCTGGAACCAGGCCACAACAACATAACTCAAAGTGCTAAGTCCTACTTCAAGATCTTAGCCTAGAAATTGTATACACACCCACAATCAGCTCATTTCCAGCCTTCAGGTGGAAGAAATGGCTTACTGCAGAAGGCTAAAGTGACAAGATAAAGAAAATAAAAAGCTATGATATACATTAAGCATCTTTTACTCTGTGTAAGGAATTCCTGGAGATTGTGATTTTATTGCTAGCTAAATTTTAGTATCATGGGTTTGGATATGAGGAACCAATATAACTAACATCTAGTCACTCTATCTCTTAAGGGAAGAAGAACAATCCCAACTGAACTACACAGCAGTTCTAGATCTCCATCCTCTCTGACAAACTCTACAACCTAGGAATCCAGAGGGAAGGGCAAAGAGCTGAAGAAAAGGTGGCCAAACAAAATTTACCTTATCACAAACTAGAAGCTGGGAGAATGGAGCAGTGTTTACTTACTGTTGGATTCAGAGTAATGTGTGGTGCCAAGCCCGCAAGGGAATAGACATTGATGTCGTGGTAGCTGTACTGTGGCTGTGGTGGAACCGTGGCTGTACAAGTGGTGTTGGTAGCTGGTGTAGTAGAAGTTGCTAAATGTCAAGTAATAAAAAGAGATTTAAAAAGTACATTTGTTGACTTTATTATAAAATTAGCTTAATATCATTAAGTGGTCATTATCTAATTAAACGAATTAAATTGGGAGAGGAGGGAAGGATGTAGCAGGTCCTATTTTTCCCACCCTGAAAGGGAAATTC
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AGGAACATTGCGTGCAAACTCTTCGTAAACAGCCAACTGCTTTGGGTCCACACCACCAACCTTGAAAGAAGAAAACCTATTTTGACAGAATTCACTCAATAATCAAAATAAACTGTTTTGAAAGTGGAAAGTCTGCATGTGGGTAAGCTCAGGGACACAAGAGTCATTACAACATATAACAGCATGATTAAGCATGCACGCACACACAAATGCAGTTCAGAAGAGGGCTTCTCATTTCCCTGAATCCTGCTAAGAGTCACCTCATTTATAAATTAACTGAGAGTTTCTCTTGGAAAATGCCTCACATGGGACGATGCCAGTGCAATTCTCCCTTGAAGCTGGTAAATATTATCAGATTTCTCACTGTCTCACTGGGAACAATAAGCAACCATTAATGTGAGAAGCCCAAGTTGGGAAACATGAAAACTAGCAGGCACATGAACTCCTTAGAGTAATAACACTTCAACAACTCTGGAGGAGCAAGGGAATTTAGAGCTATTTCCATACCTCCTCCACAGGCAGCCATTCAGTGAAATGCTATCAAGTTAAGATGTTTTCTCATAAACAATATTTAACCCTGCTGTCCTAATTCCAGTAAGGAGTTCAATCAACAACAACATTAAAAATAAAACAAAGATGGGACGGGGAAAGACAGAGCCCCAATTCTCACTTTCAGCCTGATTTGCTCTGGCATCCGTTCAGCTTGATATGTTAAAACAACAGGATCACAGTATCTGCGTCCTTCTTGCCTAGCATGTTTTCTCAGCTCAAATTCCTGCAAACAAAAAAAGTCACTGAGGTTCTTGTTATAAGGCACTTCCCTAAATTAAAAAAGAAAATCTTAAAAGGCAAATTCTAAACACTTACAGTTGCTAATCTCTTGTCCATCTCAGGGCCTGCTTTTTCTACTGCAGTCTTCTGAATAAAACAGCAAGCCAACTCACAATTGTCCTGAGCTAATTGAGCAGCTGCCTGATCCATCATTTCTCTTTGTTGTGGGGAAGCAGTCTATTAATGGAGGTGGGTGGGGGGGTGGGGGGAATAGAAGGAAAAAGACTTGAAAGTTGATGTGGACAGACAGGATAGTAGAAAATGCAGTGCATTTGGCAAATGCATTTTAAGTTCTGACTCTACTTATGAACAAGCTGTGATCTTGAAACAGTCTTAACAGCTTCCTCACTTTTAAGACAAAAATATCCTAGACACCTTATCAGTTTATTGTGAACATGCCTTAAAATCAGTAAAGCAGGCCAGACGCGGTGGCTCACACCTCTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACATGGTGAAGCCACTTCTCTACTAAAAAAATACATAAATTAGTGGGGCGTGGTAGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCACGAGAATCAGTTGAACCTCAGAGGTGGAGGATGCAGTGAGCCAAGACTGCACCACTGTACTCTAGCCTAAGCTACAGAGTGAGACCCTGTCTCATGAAACATTAAAAAAAAGGCAAAAAACAACCAAAAAAAATCATTAAAGCAGTAAACAAATTATTAATCATGATACCTGAATTATTAACCATGATATCTGAGACTCAAAACTAGTAAGTGAATTATTTGAAAAGTGTGTGCACATGCAACATCACTTTAAGTCATTTTGTATCGGCCTTCTCAAACAGCTTTCATCCTTCCTGGTTAACAGAAATGAGATTGTCAGATATCACATTTCCTTTTTAAATCTTAATTTATTTAAACCAACAAATATTTGGGTATCTACTATCTGTCAAACATCGTGTTGAGAATATAACAGAAAAAAAAAAAAACACACAGACATGATGCTTTGCCTCACAGAATTACAATCTAAAATGATGGAAGACATCAAACAAATATGGTGATTATTAAGAATAAGTGGTAACGCCCAGTGCCATATATAGACAAAGAAAAAAATTATTACAGACAAGCAGTAATACGTTTTGTACCTATACCAAGGAAATAGCCAACTTACACAAAGGGCTGAGGCAAAACTGTTTTTTAAGTTGGTAGATATGCTCATGAGCAAAGGTTCCCTGCATGTAATCATAGCCATTCCAGCTGTCAAGTTACGCATCATGTGATGAGCTGCTATTCGCATTCGAGATTCCTCCGAATCCAGGGCAAAATCCTTCCTGACTATTTGCTCACAAGTAGTCATGGCAATCTTAATTGATCGATCCACCACAGGATGGACCAGCTCCTGGACAGCCCGTTCAATTGCCTGACGCACACACTGCTTCAACTGTGGATGGGCCTGAAACAAGGGAATCTGGGGGGTTGGGGAGGACAAAGTCAACACCTTGTTTAAATAAGACAATCCAATTCCTACTGGCAATCACATTCATGATTTTGTAAATCAAGATTAACCAAAAACTACCAGTTTCTACTTAAAGTTAACCAATGGAAAATTCGGGTAACAGAAACTGAGCTCCATACAGGGAAATGTATTCAGTATACCCTGTGATACACAATAATAGATATGTCTTTTTTTTAAATCCAAGTTTAATGGACAAACTGTTCATTACAATATGCATTAACTACTTAAAGACACACTGCTGGCTTATTTAAAATTTGTGGCTCAAGTGCTCTTAAAAGAAAGCAACTTCTCCACTAGCTTGGGAAAATGTAAAAAGAATAAAGTTTATAGAAAAAAGACTTCTTACAAAAACTATTAAAATTAATTCATCAGAATAGTGAGCATTTTACAGTGCCCACTGAAGTATTTGGCTTCATTTGAAAGGCTGTTTCTAATCTTTTATTGCAGGTGTAAATTATGCCCCAAAACTTACTTGGTCCCTTTAACTTGTTGAATTAAAAAAAAAAAAAATTAAACTAGCATATAATAGTGTTCACAACACTAAGAGTATTCTAAAGATGAATCACAATTTCTGGATCTAGGTGTCCCACTGCCTCTCACTCCACCCCTCTAAAACTAAGTACCATGTCTATAGGAGTGGGGATGGGGGGACAAGGATAAAATGATTTCTCTGATACCCTTTCAATTCCTTTTAATAAAAAGTTCAATGTATTAATGTTACTCTTGTATTTGTGAACATTTTCAGTTTCTAAAAAGTAAGGACAATGAAAACTCCACTCACCTGATTCTGTATTATATATTCTGTTAAGTAGAATAAAAGACTAAAGATAACAATAAAATGTCCCCTTGAATGTACAAAGCAAATACTAACTATAGGAAAAAGGACTGATCAGAGGTCATCTTACATGACCATATTGTATCAGACCTCCTTCTGGAACCAGGCCACAACAACATAACTCAAAGTGCTAAGTCCTACTTCAAGATCTTAGCCTAGAAATTGTATACACACCCACAATCAGCTCATTTCCAGCCTTCAGGTGGAAGAAATGGCTTACTGCAGAAGGCTAAAGTGACAAGATAAAGAAAATAAAAAGCTATGATATACATTAAGCATCTTTTACTCTGTGTAAGGAATTCCTGGAGATTGTGATTTTATTGCTAGCTAAATTTTAGTATCATGGGTTTGGATATGAGGAACCAATATAACTAACATCTAGTCACTCTATCTCTTAAGGGAAGAAGAACAATCCCAACTGAACTACACAGCAGTTCTAGATCTCCATCCTCTCTGACAAACTCTACAACCTAGGAATCCAGAGGGAAGGGCAAAGAGCTGAAGAAAAGGTGGCCAAACAAAATTTACCTTATCACAAACTAGAAGCTGGGAGAATGGAGCAGTGTTTACTTACTGTTGGATTCAGAGTAATGTGTGGTGCCAAGCCCGCAAGGGAATAGACATTGATGTCGTGGTAGCTGTACTGTGGCTGTGGTGGAACCGTGGCTGTACAAGTGGTGTTGGTAGCTGGTGTAGTAGAAGTTGCTAAATGTCAAGTAATAAAAAGAGATTTAAAAAGTACATTTGTTGACTTTATTATAAAATTAGCTTAATATCATTAAGTGGTCATTATCTAATTAAACGAATTAAATTGGGAGAGGAGGGAAGGATGTAGCAGGTCCTATTTTTCCCACCCTGAAAGGGAAATTC
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Task1_train_22767
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The gene CNOT1 (CCR4-NOT transcription complex subunit 1), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Neurodevelopmental delay
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ACTGTTTTGAAAGTGGAAAGTCTGCATGTGGGTAAGCTCAGGGACACAAGAGTCATTACAACATATAACAGCATGATTAAGCATGCACGCACACACAAATGCAGTTCAGAAGAGGGCTTCTCATTTCCCTGAATCCTGCTAAGAGTCACCTCATTTATAAATTAACTGAGAGTTTCTCTTGGAAAATGCCTCACATGGGACGATGCCAGTGCAATTCTCCCTTGAAGCTGGTAAATATTATCAGATTTCTCACTGTCTCACTGGGAACAATAAGCAACCATTAATGTGAGAAGCCCAAGTTGGGAAACATGAAAACTAGCAGGCACATGAACTCCTTAGAGTAATAACACTTCAACAACTCTGGAGGAGCAAGGGAATTTAGAGCTATTTCCATACCTCCTCCACAGGCAGCCATTCAGTGAAATGCTATCAAGTTAAGATGTTTTCTCATAAACAATATTTAACCCTGCTGTCCTAATTCCAGTAAGGAGTTCAATCAACAACAACATTAAAAATAAAACAAAGATGGGACGGGGAAAGACAGAGCCCCAATTCTCACTTTCAGCCTGATTTGCTCTGGCATCCGTTCAGCTTGATATGTTAAAACAACAGGATCACAGTATCTGCGTCCTTCTTGCCTAGCATGTTTTCTCAGCTCAAATTCCTGCAAACAAAAAAAGTCACTGAGGTTCTTGTTATAAGGCACTTCCCTAAATTAAAAAAGAAAATCTTAAAAGGCAAATTCTAAACACTTACAGTTGCTAATCTCTTGTCCATCTCAGGGCCTGCTTTTTCTACTGCAGTCTTCTGAATAAAACAGCAAGCCAACTCACAATTGTCCTGAGCTAATTGAGCAGCTGCCTGATCCATCATTTCTCTTTGTTGTGGGGAAGCAGTCTATTAATGGAGGTGGGTGGGGGGGTGGGGGGAATAGAAGGAAAAAGACTTGAAAGTTGATGTGGACAGACAGGATAGTAGAAAATGCAGTGCATTTGGCAAATGCATTTTAAGTTCTGACTCTACTTATGAACAAGCTGTGATCTTGAAACAGTCTTAACAGCTTCCTCACTTTTAAGACAAAAATATCCTAGACACCTTATCAGTTTATTGTGAACATGCCTTAAAATCAGTAAAGCAGGCCAGACGCGGTGGCTCACACCTCTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACATGGTGAAGCCACTTCTCTACTAAAAAAATACATAAATTAGTGGGGCGTGGTAGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCACGAGAATCAGTTGAACCTCAGAGGTGGAGGATGCAGTGAGCCAAGACTGCACCACTGTACTCTAGCCTAAGCTACAGAGTGAGACCCTGTCTCATGAAACATTAAAAAAAAGGCAAAAAACAACCAAAAAAAATCATTAAAGCAGTAAACAAATTATTAATCATGATACCTGAATTATTAACCATGATATCTGAGACTCAAAACTAGTAAGTGAATTATTTGAAAAGTGTGTGCACATGCAACATCACTTTAAGTCATTTTGTATCGGCCTTCTCAAACAGCTTTCATCCTTCCTGGTTAACAGAAATGAGATTGTCAGATATCACATTTCCTTTTTAAATCTTAATTTATTTAAACCAACAAATATTTGGGTATCTACTATCTGTCAAACATCGTGTTGAGAATATAACAGAAAAAAAAAAAAACACACAGACATGATGCTTTGCCTCACAGAATTACAATCTAAAATGATGGAAGACATCAAACAAATATGGTGATTATTAAGAATAAGTGGTAACGCCCAGTGCCATATATAGACAAAGAAAAAAATTATTACAGACAAGCAGTAATACGTTTTGTACCTATACCAAGGAAATAGCCAACTTACACGAAGGGCTGAGGCAAAACTGTTTTTTAAGTTGGTAGATATGCTCATGAGCAAAGGTTCCCTGCATGTAATCATAGCCATTCCAGCTGTCAAGTTACGCATCATGTGATGAGCTGCTATTCGCATTCGAGATTCCTCCGAATCCAGGGCAAAATCCTTCCTGACTATTTGCTCACAAGTAGTCATGGCAATCTTAATTGATCGATCCACCACAGGATGGACCAGCTCCTGGACAGCCCGTTCAATTGCCTGACGCACACACTGCTTCAACTGTGGATGGGCCTGAAACAAGGGAATCTGGGGGGTTGGGGAGGACAAAGTCAACACCTTGTTTAAATAAGACAATCCAATTCCTACTGGCAATCACATTCATGATTTTGTAAATCAAGATTAACCAAAAACTACCAGTTTCTACTTAAAGTTAACCAATGGAAAATTCGGGTAACAGAAACTGAGCTCCATACAGGGAAATGTATTCAGTATACCCTGTGATACACAATAATAGATATGTCTTTTTTTTAAATCCAAGTTTAATGGACAAACTGTTCATTACAATATGCATTAACTACTTAAAGACACACTGCTGGCTTATTTAAAATTTGTGGCTCAAGTGCTCTTAAAAGAAAGCAACTTCTCCACTAGCTTGGGAAAATGTAAAAAGAATAAAGTTTATAGAAAAAAGACTTCTTACAAAAACTATTAAAATTAATTCATCAGAATAGTGAGCATTTTACAGTGCCCACTGAAGTATTTGGCTTCATTTGAAAGGCTGTTTCTAATCTTTTATTGCAGGTGTAAATTATGCCCCAAAACTTACTTGGTCCCTTTAACTTGTTGAATTAAAAAAAAAAAAAATTAAACTAGCATATAATAGTGTTCACAACACTAAGAGTATTCTAAAGATGAATCACAATTTCTGGATCTAGGTGTCCCACTGCCTCTCACTCCACCCCTCTAAAACTAAGTACCATGTCTATAGGAGTGGGGATGGGGGGACAAGGATAAAATGATTTCTCTGATACCCTTTCAATTCCTTTTAATAAAAAGTTCAATGTATTAATGTTACTCTTGTATTTGTGAACATTTTCAGTTTCTAAAAAGTAAGGACAATGAAAACTCCACTCACCTGATTCTGTATTATATATTCTGTTAAGTAGAATAAAAGACTAAAGATAACAATAAAATGTCCCCTTGAATGTACAAAGCAAATACTAACTATAGGAAAAAGGACTGATCAGAGGTCATCTTACATGACCATATTGTATCAGACCTCCTTCTGGAACCAGGCCACAACAACATAACTCAAAGTGCTAAGTCCTACTTCAAGATCTTAGCCTAGAAATTGTATACACACCCACAATCAGCTCATTTCCAGCCTTCAGGTGGAAGAAATGGCTTACTGCAGAAGGCTAAAGTGACAAGATAAAGAAAATAAAAAGCTATGATATACATTAAGCATCTTTTACTCTGTGTAAGGAATTCCTGGAGATTGTGATTTTATTGCTAGCTAAATTTTAGTATCATGGGTTTGGATATGAGGAACCAATATAACTAACATCTAGTCACTCTATCTCTTAAGGGAAGAAGAACAATCCCAACTGAACTACACAGCAGTTCTAGATCTCCATCCTCTCTGACAAACTCTACAACCTAGGAATCCAGAGGGAAGGGCAAAGAGCTGAAGAAAAGGTGGCCAAACAAAATTTACCTTATCACAAACTAGAAGCTGGGAGAATGGAGCAGTGTTTACTTACTGTTGGATTCAGAGTAATGTGTGGTGCCAAGCCCGCAAGGGAATAGACATTGATGTCGTGGTAGCTGTACTGTGGCTGTGGTGGAACCGTGGCTGTACAAGTGGTGTTGGTAGCTGGTGTAGTAGAAGTTGCTAAATGTCAAGTAATAAAAAGAGATTTAAAAAGTACATTTGTTGACTTTATTATAAAATTAGCTTAATATCATTAAGTGGTCATTATCTAATTAAACGAATTAAATTGGGAGAGGAGGGAAGGATGTAGCAGGTCCTATTTTTCCCACCCTGAAAGGGAAATTCTGTTGTTATAACAGAGATATACACGAAGTATGTTAAACTATGTCAGTGCCAGTGCCCCACAGCACAGAAATCAACTGAGCAGCCATGCCATATTGTCAGGCCCAAGTCCTA
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ACTGTTTTGAAAGTGGAAAGTCTGCATGTGGGTAAGCTCAGGGACACAAGAGTCATTACAACATATAACAGCATGATTAAGCATGCACGCACACACAAATGCAGTTCAGAAGAGGGCTTCTCATTTCCCTGAATCCTGCTAAGAGTCACCTCATTTATAAATTAACTGAGAGTTTCTCTTGGAAAATGCCTCACATGGGACGATGCCAGTGCAATTCTCCCTTGAAGCTGGTAAATATTATCAGATTTCTCACTGTCTCACTGGGAACAATAAGCAACCATTAATGTGAGAAGCCCAAGTTGGGAAACATGAAAACTAGCAGGCACATGAACTCCTTAGAGTAATAACACTTCAACAACTCTGGAGGAGCAAGGGAATTTAGAGCTATTTCCATACCTCCTCCACAGGCAGCCATTCAGTGAAATGCTATCAAGTTAAGATGTTTTCTCATAAACAATATTTAACCCTGCTGTCCTAATTCCAGTAAGGAGTTCAATCAACAACAACATTAAAAATAAAACAAAGATGGGACGGGGAAAGACAGAGCCCCAATTCTCACTTTCAGCCTGATTTGCTCTGGCATCCGTTCAGCTTGATATGTTAAAACAACAGGATCACAGTATCTGCGTCCTTCTTGCCTAGCATGTTTTCTCAGCTCAAATTCCTGCAAACAAAAAAAGTCACTGAGGTTCTTGTTATAAGGCACTTCCCTAAATTAAAAAAGAAAATCTTAAAAGGCAAATTCTAAACACTTACAGTTGCTAATCTCTTGTCCATCTCAGGGCCTGCTTTTTCTACTGCAGTCTTCTGAATAAAACAGCAAGCCAACTCACAATTGTCCTGAGCTAATTGAGCAGCTGCCTGATCCATCATTTCTCTTTGTTGTGGGGAAGCAGTCTATTAATGGAGGTGGGTGGGGGGGTGGGGGGAATAGAAGGAAAAAGACTTGAAAGTTGATGTGGACAGACAGGATAGTAGAAAATGCAGTGCATTTGGCAAATGCATTTTAAGTTCTGACTCTACTTATGAACAAGCTGTGATCTTGAAACAGTCTTAACAGCTTCCTCACTTTTAAGACAAAAATATCCTAGACACCTTATCAGTTTATTGTGAACATGCCTTAAAATCAGTAAAGCAGGCCAGACGCGGTGGCTCACACCTCTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACATGGTGAAGCCACTTCTCTACTAAAAAAATACATAAATTAGTGGGGCGTGGTAGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCACGAGAATCAGTTGAACCTCAGAGGTGGAGGATGCAGTGAGCCAAGACTGCACCACTGTACTCTAGCCTAAGCTACAGAGTGAGACCCTGTCTCATGAAACATTAAAAAAAAGGCAAAAAACAACCAAAAAAAATCATTAAAGCAGTAAACAAATTATTAATCATGATACCTGAATTATTAACCATGATATCTGAGACTCAAAACTAGTAAGTGAATTATTTGAAAAGTGTGTGCACATGCAACATCACTTTAAGTCATTTTGTATCGGCCTTCTCAAACAGCTTTCATCCTTCCTGGTTAACAGAAATGAGATTGTCAGATATCACATTTCCTTTTTAAATCTTAATTTATTTAAACCAACAAATATTTGGGTATCTACTATCTGTCAAACATCGTGTTGAGAATATAACAGAAAAAAAAAAAAACACACAGACATGATGCTTTGCCTCACAGAATTACAATCTAAAATGATGGAAGACATCAAACAAATATGGTGATTATTAAGAATAAGTGGTAACGCCCAGTGCCATATATAGACAAAGAAAAAAATTATTACAGACAAGCAGTAATACGTTTTGTACCTATACCAAGGAAATAGCCAACTTACACGAAGGGCTGAGGCAAAACTGTTTTTTAAGTTGGTAGATATGCTCATGAGCAAAGGTTCCCTGCATGTAATCATAGCCATTCCAGCTGTCAAGTTACGCATCATGTGATGAGTTGCTATTCGCATTCGAGATTCCTCCGAATCCAGGGCAAAATCCTTCCTGACTATTTGCTCACAAGTAGTCATGGCAATCTTAATTGATCGATCCACCACAGGATGGACCAGCTCCTGGACAGCCCGTTCAATTGCCTGACGCACACACTGCTTCAACTGTGGATGGGCCTGAAACAAGGGAATCTGGGGGGTTGGGGAGGACAAAGTCAACACCTTGTTTAAATAAGACAATCCAATTCCTACTGGCAATCACATTCATGATTTTGTAAATCAAGATTAACCAAAAACTACCAGTTTCTACTTAAAGTTAACCAATGGAAAATTCGGGTAACAGAAACTGAGCTCCATACAGGGAAATGTATTCAGTATACCCTGTGATACACAATAATAGATATGTCTTTTTTTTAAATCCAAGTTTAATGGACAAACTGTTCATTACAATATGCATTAACTACTTAAAGACACACTGCTGGCTTATTTAAAATTTGTGGCTCAAGTGCTCTTAAAAGAAAGCAACTTCTCCACTAGCTTGGGAAAATGTAAAAAGAATAAAGTTTATAGAAAAAAGACTTCTTACAAAAACTATTAAAATTAATTCATCAGAATAGTGAGCATTTTACAGTGCCCACTGAAGTATTTGGCTTCATTTGAAAGGCTGTTTCTAATCTTTTATTGCAGGTGTAAATTATGCCCCAAAACTTACTTGGTCCCTTTAACTTGTTGAATTAAAAAAAAAAAAAATTAAACTAGCATATAATAGTGTTCACAACACTAAGAGTATTCTAAAGATGAATCACAATTTCTGGATCTAGGTGTCCCACTGCCTCTCACTCCACCCCTCTAAAACTAAGTACCATGTCTATAGGAGTGGGGATGGGGGGACAAGGATAAAATGATTTCTCTGATACCCTTTCAATTCCTTTTAATAAAAAGTTCAATGTATTAATGTTACTCTTGTATTTGTGAACATTTTCAGTTTCTAAAAAGTAAGGACAATGAAAACTCCACTCACCTGATTCTGTATTATATATTCTGTTAAGTAGAATAAAAGACTAAAGATAACAATAAAATGTCCCCTTGAATGTACAAAGCAAATACTAACTATAGGAAAAAGGACTGATCAGAGGTCATCTTACATGACCATATTGTATCAGACCTCCTTCTGGAACCAGGCCACAACAACATAACTCAAAGTGCTAAGTCCTACTTCAAGATCTTAGCCTAGAAATTGTATACACACCCACAATCAGCTCATTTCCAGCCTTCAGGTGGAAGAAATGGCTTACTGCAGAAGGCTAAAGTGACAAGATAAAGAAAATAAAAAGCTATGATATACATTAAGCATCTTTTACTCTGTGTAAGGAATTCCTGGAGATTGTGATTTTATTGCTAGCTAAATTTTAGTATCATGGGTTTGGATATGAGGAACCAATATAACTAACATCTAGTCACTCTATCTCTTAAGGGAAGAAGAACAATCCCAACTGAACTACACAGCAGTTCTAGATCTCCATCCTCTCTGACAAACTCTACAACCTAGGAATCCAGAGGGAAGGGCAAAGAGCTGAAGAAAAGGTGGCCAAACAAAATTTACCTTATCACAAACTAGAAGCTGGGAGAATGGAGCAGTGTTTACTTACTGTTGGATTCAGAGTAATGTGTGGTGCCAAGCCCGCAAGGGAATAGACATTGATGTCGTGGTAGCTGTACTGTGGCTGTGGTGGAACCGTGGCTGTACAAGTGGTGTTGGTAGCTGGTGTAGTAGAAGTTGCTAAATGTCAAGTAATAAAAAGAGATTTAAAAAGTACATTTGTTGACTTTATTATAAAATTAGCTTAATATCATTAAGTGGTCATTATCTAATTAAACGAATTAAATTGGGAGAGGAGGGAAGGATGTAGCAGGTCCTATTTTTCCCACCCTGAAAGGGAAATTCTGTTGTTATAACAGAGATATACACGAAGTATGTTAAACTATGTCAGTGCCAGTGCCCCACAGCACAGAAATCAACTGAGCAGCCATGCCATATTGTCAGGCCCAAGTCCTA
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Task1_train_22768
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The gene CNOT1 (CCR4-NOT transcription complex subunit 1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Neurodevelopmental delay
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AAATTGGGAGAGGAGGGAAGGATGTAGCAGGTCCTATTTTTCCCACCCTGAAAGGGAAATTCTGTTGTTATAACAGAGATATACACGAAGTATGTTAAACTATGTCAGTGCCAGTGCCCCACAGCACAGAAATCAACTGAGCAGCCATGCCATATTGTCAGGCCCAAGTCCTATAAACTTAGTCTATATTATAAATGTATGTTTTCAACCTAGCCTGTTCCTAGGTTTATCTGGGGATTCTCAGCTGCTGAGGACTGAGAAAGAAAGAAAAGCTCAATTTATTCTAACCACAACTCCCAATCATTCAACACTCCCATACCCTTCTCCCATCTTCTTCATGTAGATAAAACAGTCCCATTCCCTTGGCAGATCTAGCAGGTCTGGCCATACCCAGATTTGAGGGGTTAACAGGCCATCATAGTATGCAGTTATTTCTGGGACTTCACACAACAAAGGAGATAACCTGGCCTAGCTGGGGTATGAGAGGCAACTGATTAAATCACATTTAGTTAATAATATGCATGAACTGTCAGGATGGAATCTAAGATGGTAACACAAGGCCTAGTCATTACTTCTGCTTGATAATTAGAAGGCTCACCAAAACGTATACAAAGTTTCACCACTACATTATGTGGGAAATTATAGTTTGCGATATACATGGACAAGTACCATTTAAGATAGTATCCTAGCTAACAGAAGCCTTCCTTGACTAATTAGCACACTTACTTGTGGTTGTGATGGGAGGGAGTTCTTCTGGCTGCTTGACATCTTTCTTTGGAGCAGAGAGTTGCTCATCTAAATTCTTCAGGCGATCTTTATCCTTTAGGAGGTTTCCAGGTTTTAGCTCATTGATGTCTAATGCAAGGTTCTTGCAGAGAACCTCGATTTCAAACTTCAAGTTTAACTGCACAGTTCCAGAGTTGGATTAGAATTTTTAAAAGAAAACTTTAGTTTTACTCATAATATACTCTACTTTCAGTTATTATAGTACTTCCCCCGAAATACCCTGCCTTCACTGTAAGTTTTAATAATGTGAAGGCAAAGAATGTTCCAGAGGACAAGGAAGCAGTAAATTACCTTTAAGTCATGCTCCTGATGTAGCTCAGCTAATACATTCATAATTGCCATTGTCCAAGGGTTTGGTGGCCTAAAAACCTAAAGAAAAGCTATTATGTTAAGCTGGCCCAAAATGTGCCCTTTAATTTGGATTATTTAAAACAATTCAATACAACATAAGGGGGTAGGGGGGAGTCAAACAAATAAAAAACAAAAAACAAGGATTAAAAAATAACCAAAAACAGTTAAACATAGTTAAACACTTATACCTCTGTAGCCATAACAAAACCCCTAGCCTTCTCACCTATATCACATTTCAAAAACAAAACAAAACAAAAAACCAAAAACCAAAGCCAACCATTATAATCTTTCTTATTTCACCCAGCCTCTCAAATTGGAAATCCAAGTGCCATAGAGGAAAACAGACTTAACTAGCTTTACCTCACAAGAACTAAGAATATAATCTCTTGACCTCATGCTAAAACAAAGCAATGCTTAGAAATTAGTCATAAATAAAATATTAAAATCTACTCACCACACTACGAATGCTAGATTCTAAGACTTTGGCAACAAAGGGCACTACATAGAGCAATTCTTGTTGTCCTTTAACATAAGCCTCTAGCAGCAATGATTTCACATCCAAGTCCTAGAATAAGAAAAATACTTTCAAAAGCGGGGAATATACCCCCCAAAATGGTATAACAAAACCAAAGAAAAGTATTTTGCCAAGCTTATCCCCAAAACAGGAATCAACATAATGTCTAGTCCTTGCCTTACAAAAAGGGGTTAACAACTCAAAACGTGGGCCAAAATCTTACAAAACCCCAATAATCATTAAATAGCTCCAAACAGCCAATACTTGTAATCATAATGTGCTGAAGATTCTCAATTTTTACACATTTAGATGAAACTCACAGTGTGTAAGATGGGTTTGTTTTTAGCTAATGTGATCATTCCTAGCCAATGTCCCAAGTTCTTCAGCAAAGAACGATCTGAGAAATTGGCTGCAGCTTTATCAGAGGTCAGGAGCACCTGAAATAGTGTAAGATTAAGAAAGATATGAGAATAAGCTTATGAAAGAAAACTCAACTAAGTATTTGAGAATTCCATTATCCTATCCTAAAGACAAGTCATCATTTCTAAGAACAGGCCCCAAAGTAGAATTACTCTGTATATCATTCTCAATATCATTTTGCTGTGTTTATGATTCAACAGTGCTATTTTTACCTTGAAGAAGTCTTTACATTTTATTTTTTCAAAATAGGTACAAACACATTGCACAAAATTCAAAAAGAACACAAAGTTATGTGCCAGCTATCCTCCCCTAGAAAAGTATTTTCAACTCTGAAAACCTTAGCTAGGTTTAAAGCAGAGACCTAACTACAAAGCTATTTTGAAGTGCTAAATTAATTTAAATGAGGATGATAGCCATGCTTAAGTCCTTAAAGGCAGCAAGCATACAAAGGAATATAATCAAATTAGCCTCCTATTGCAATCTTCAGTATACCCAGGTCATTAACAAATCTCTGCAGCCAACCAAGATAACTTTCTGAGATATAGTATAATACTGTTTATATACTTCTTTTCAAATTTCTAAAAAACCCAAACCATTTAACTGATTCTCCGGTTACTGTTTTTCTAAGGGGGGGCAGAACTAACATAGGAGAGTGTTTTGGCTGCAGGTATGCACACATGTATATACCCATCTACTCTGTGGTACCTCTTGACTTAGGGCTATATTTAAACTTCTGTTTAAAAAACATGGTCTTGAAACTTTGCTACAGAGTATGTGGAAACTTTTATGTATCCCAACCACCCTTGCTATCAGATAATAAAAACGAAATAGAGCCATGTTCCTTAACTCTATACAGCAACAGCAGAATGGCACAAGTCAGCTGTGCAACAGAGAGCCAGGAATTCTTTTGCACTACAGCGTAACCAAGAATGGGGAATATTCCCATCCACAGGTTTAAATATAGTGCTGGTTCCTAAGCCAATGACCCAAGTTATTGAGCAAAGAATGACCACAGCTGTATGCTGGTTCTAGAAGTTTTTCCTCCTAAGAAATAAATGATGGTTTAGAAATTAAAATACTTGAATTTTGTTGAATAAGCCTCAGCTCAGTAGAATTTGACCTTAAACTGCACAGACTCCTAGACAACAGCTATTCCACAAACAGATTTAGAGTCTAAAGATATCTTGCACTTGAATACTACAAGATACAAACGAAAACATTCAGGACAGCATTGTTTATAATAGTTTAAGTGATTAACAACACAAATGCCCAGCAGCAATACAAATACATACAATGGTTTTCTACAAGACTATATTTTTCTGTTTTTTAAAAAAGAGGACTGGCCGGGCACAGTGGCTCAGGCCTGTAATCCCAGAACTCTGGGAGGCCGAGGAGGGTGGATCACCTAAGGTCAGGAGTTCGGGACCAGCCTGGCCAATATGATTAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGCGGTACAACTATAATCCCAGCTACTCGGGAGGCTGAAGTAAGAGAACTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTAAGCAACAGAGTGAGACCACATCTCAAAAAAATTGAAAAAAAAAAAAAAAGGGGGCTACAGCAAAGAGCATTATCATTATCATGAATAATATCCAGGGGAGAAAAAAAAGTAAGTGAAAAAAAAAGAAAAGGATGTACAGAGGGCGACACCATACAGAATATGCTAACCAATACTATGCTGCTTATGTATAACAGTGGTAAAGTTCTAAAATCATGCATGGCATGACAAAAACAATTCATAATAGTGGTTACTTTCAAAGAAAAGGCACAGGGTATGCCTATAAATTTAAGTTCTGCATAAAATTTAGTTCCATATAAGAAACAAAATCTACAGCAATTTCCAGAGGTACCTAATATTGACAATATATATGGAAAAATAGCAAAAATCCTACCTATATAATCAAATATTTCCAAATTCAAAGCAATAAT
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AAATTGGGAGAGGAGGGAAGGATGTAGCAGGTCCTATTTTTCCCACCCTGAAAGGGAAATTCTGTTGTTATAACAGAGATATACACGAAGTATGTTAAACTATGTCAGTGCCAGTGCCCCACAGCACAGAAATCAACTGAGCAGCCATGCCATATTGTCAGGCCCAAGTCCTATAAACTTAGTCTATATTATAAATGTATGTTTTCAACCTAGCCTGTTCCTAGGTTTATCTGGGGATTCTCAGCTGCTGAGGACTGAGAAAGAAAGAAAAGCTCAATTTATTCTAACCACAACTCCCAATCATTCAACACTCCCATACCCTTCTCCCATCTTCTTCATGTAGATAAAACAGTCCCATTCCCTTGGCAGATCTAGCAGGTCTGGCCATACCCAGATTTGAGGGGTTAACAGGCCATCATAGTATGCAGTTATTTCTGGGACTTCACACAACAAAGGAGATAACCTGGCCTAGCTGGGGTATGAGAGGCAACTGATTAAATCACATTTAGTTAATAATATGCATGAACTGTCAGGATGGAATCTAAGATGGTAACACAAGGCCTAGTCATTACTTCTGCTTGATAATTAGAAGGCTCACCAAAACGTATACAAAGTTTCACCACTACATTATGTGGGAAATTATAGTTTGCGATATACATGGACAAGTACCATTTAAGATAGTATCCTAGCTAACAGAAGCCTTCCTTGACTAATTAGCACACTTACTTGTGGTTGTGATGGGAGGGAGTTCTTCTGGCTGCTTGACATCTTTCTTTGGAGCAGAGAGTTGCTCATCTAAATTCTTCAGGCGATCTTTATCCTTTAGGAGGTTTCCAGGTTTTAGCTCATTGATGTCTAATGCAAGGTTCTTGCAGAGAACCTCGATTTCAAACTTCAAGTTTAACTGCACAGTTCCAGAGTTGGATTAGAATTTTTAAAAGAAAACTTTAGTTTTACTCATAATATACTCTACTTTCAGTTATTATAGTACTTCCCCCGAAATACCCTGCCTTCACTGTAAGTTTTAATAATGTGAAGGCAAAGAATGTTCCAGAGGACAAGGAAGCAGTAAATTACCTTTAAGTCATGCTCCTGATGTAGCTCAGCTAATACATTCATAATTGCCATTGTCCAAGGGTTTGGTGGCCTAAAAACCTAAAGAAAAGCTATTATGTTAAGCTGGCCCAAAATGTGCCCTTTAATTTGGATTATTTAAAACAATTCAATACAACATAAGGGGGTAGGGGGGAGTCAAACAAATAAAAAACAAAAAACAAGGATTAAAAAATAACCAAAAACAGTTAAACATAGTTAAACACTTATACCTCTGTAGCCATAACAAAACCCCTAGCCTTCTCACCTATATCACATTTCAAAAACAAAACAAAACAAAAAACCAAAAACCAAAGCCAACCATTATAATCTTTCTTATTTCACCCAGCCTCTCAAATTGGAAATCCAAGTGCCATAGAGGAAAACAGACTTAACTAGCTTTACCTCACAAGAACTAAGAATATAATCTCTTGACCTCATGCTAAAACAAAGCAATGCTTAGAAATTAGTCATAAATAAAATATTAAAATCTACTCACCACACTACGAATGCTAGATTCTAAGACTTTGGCAACAAAGGGCACTACATAGAGCAATTCTTGTTGTCCTTTAACATAAGCCTCTAGCAGCAATGATTTCACATCCAAGTCCTAGAATAAGAAAAATACTTTCAAAAGCGGGGAATATACCCCCCAAAATGGTATAACAAAACCAAAGAAAAGTATTTTGCCAAGCTTATCCCCAAAACAGGAATCAACATAATGTCTAGTCCTTGCCTTACAAAAAGGGGTTAACAACTCAAAACGTGGGCCAAAATCTTACAAAACCCCAATAATCATTAAATAGCTCCAAACAGCCAATACTTGTAATCATAATGTGCTGAAGATTCTCAATTTTTACACATTTAGATGAAACTCACAGTGTGTAAGATGGGTTTGTTTTTAGCTAATGTGATCATTCCTAGCCAATGTCCCAAGTTCTTCAGCAAAGAACGATATGAGAAATTGGCTGCAGCTTTATCAGAGGTCAGGAGCACCTGAAATAGTGTAAGATTAAGAAAGATATGAGAATAAGCTTATGAAAGAAAACTCAACTAAGTATTTGAGAATTCCATTATCCTATCCTAAAGACAAGTCATCATTTCTAAGAACAGGCCCCAAAGTAGAATTACTCTGTATATCATTCTCAATATCATTTTGCTGTGTTTATGATTCAACAGTGCTATTTTTACCTTGAAGAAGTCTTTACATTTTATTTTTTCAAAATAGGTACAAACACATTGCACAAAATTCAAAAAGAACACAAAGTTATGTGCCAGCTATCCTCCCCTAGAAAAGTATTTTCAACTCTGAAAACCTTAGCTAGGTTTAAAGCAGAGACCTAACTACAAAGCTATTTTGAAGTGCTAAATTAATTTAAATGAGGATGATAGCCATGCTTAAGTCCTTAAAGGCAGCAAGCATACAAAGGAATATAATCAAATTAGCCTCCTATTGCAATCTTCAGTATACCCAGGTCATTAACAAATCTCTGCAGCCAACCAAGATAACTTTCTGAGATATAGTATAATACTGTTTATATACTTCTTTTCAAATTTCTAAAAAACCCAAACCATTTAACTGATTCTCCGGTTACTGTTTTTCTAAGGGGGGGCAGAACTAACATAGGAGAGTGTTTTGGCTGCAGGTATGCACACATGTATATACCCATCTACTCTGTGGTACCTCTTGACTTAGGGCTATATTTAAACTTCTGTTTAAAAAACATGGTCTTGAAACTTTGCTACAGAGTATGTGGAAACTTTTATGTATCCCAACCACCCTTGCTATCAGATAATAAAAACGAAATAGAGCCATGTTCCTTAACTCTATACAGCAACAGCAGAATGGCACAAGTCAGCTGTGCAACAGAGAGCCAGGAATTCTTTTGCACTACAGCGTAACCAAGAATGGGGAATATTCCCATCCACAGGTTTAAATATAGTGCTGGTTCCTAAGCCAATGACCCAAGTTATTGAGCAAAGAATGACCACAGCTGTATGCTGGTTCTAGAAGTTTTTCCTCCTAAGAAATAAATGATGGTTTAGAAATTAAAATACTTGAATTTTGTTGAATAAGCCTCAGCTCAGTAGAATTTGACCTTAAACTGCACAGACTCCTAGACAACAGCTATTCCACAAACAGATTTAGAGTCTAAAGATATCTTGCACTTGAATACTACAAGATACAAACGAAAACATTCAGGACAGCATTGTTTATAATAGTTTAAGTGATTAACAACACAAATGCCCAGCAGCAATACAAATACATACAATGGTTTTCTACAAGACTATATTTTTCTGTTTTTTAAAAAAGAGGACTGGCCGGGCACAGTGGCTCAGGCCTGTAATCCCAGAACTCTGGGAGGCCGAGGAGGGTGGATCACCTAAGGTCAGGAGTTCGGGACCAGCCTGGCCAATATGATTAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGCGGTACAACTATAATCCCAGCTACTCGGGAGGCTGAAGTAAGAGAACTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTAAGCAACAGAGTGAGACCACATCTCAAAAAAATTGAAAAAAAAAAAAAAAGGGGGCTACAGCAAAGAGCATTATCATTATCATGAATAATATCCAGGGGAGAAAAAAAAGTAAGTGAAAAAAAAAGAAAAGGATGTACAGAGGGCGACACCATACAGAATATGCTAACCAATACTATGCTGCTTATGTATAACAGTGGTAAAGTTCTAAAATCATGCATGGCATGACAAAAACAATTCATAATAGTGGTTACTTTCAAAGAAAAGGCACAGGGTATGCCTATAAATTTAAGTTCTGCATAAAATTTAGTTCCATATAAGAAACAAAATCTACAGCAATTTCCAGAGGTACCTAATATTGACAATATATATGGAAAAATAGCAAAAATCCTACCTATATAATCAAATATTTCCAAATTCAAAGCAATAAT
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Task1_train_22769
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Here is a genetic alteration in CNOT1 (CCR4-NOT transcription complex subunit 1) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Vissers-Bodmer syndrome
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ACTCAAAAATTTCAGATTTTTATACACAAGATTCCCACTCCAATTCCCTTTTAGCATCAGGCAGGGTGTCTGTACTTTATCTAAGATAAAGATTCTCTTAGTAAAACTGTTTATTCTTCAACTGCATTACAGGTTAAAAGAATGAGTAAAAAGTTTTTGAGGTAAGCCTGCTACTTAGAAAAGATAATCCAAGAATGATTATTTTTTCATGTTCTCTTGTAAGGCCACAAAATGAGCAACCTCAACAAAAGATATGTGTACCTATATCATGCCAATCATTAAGAAATCTTAATGCCATTACTATCAAGTCTACAAAAAAAAGCCAAAATATTAAACCCTCCAAATACTACATAGCTATTTGGGTTTTAGTTACAGAGGGCACTTACCTCCTGTAAATGATGTGGAAATTGCATAAAGTGACTGATAGAAGCCAAATGCTGACAATACTGGGGATAGTCCTTCAATCTGCCAACAAAATTATTCTACCATCATTTCATGTCAGAACAGAAGCATCACTAACAAAATGTTTTTGTCCAAATGCTAATCTAGGTCATTTTTTTCCATCTTACCTATGAATAACTTATTTGAAGAAAATGTCAAAGTGAAGAAAACAAAAATAGAAGGAGAAAATACTTATGATTTTCACAGGATTTACATCAGAAAATACACTACCTCTGATTTTTAAAGGCTATATTTTACTTAAAAATAGATTAAAACGAGCCACTTCTCTGGAAACAATTCAAATTTTCACCAACATACGAATGGAAAAATAATTTGTAGTCAACTCATATAGTAGAATACTACACAGCTGTAAAAAAAAAAACAGACTACTGAAACGTAGTAACGTAAGTCTCAAAAAACTACATATTTGTATGACTCTGTGTAAATGGCATTCTAGAAAAACTTTAGAGATTATCAGAGATTGGAAGTCAGGGAAGGGGACTAACTACAAAGGGGAACAAGGAAACCTCTTGGGAGATAATGAAAATATTCTGCATCAGCCAGGCATGGTAGTTTATGCCTATAATCCCATCACTGTGGGAGGCAGGAAGATCACTTGAGGCCAGGAGTTCCAAAATATTCTGTATCTTGATTGTGGTGGTAGTTACACAACTGTATAAATTTGTCAAAATTCAAAGAACTATACACCTAAAGGGAAGACTTCTACTGTACGAAGTATACCTCATAAATAACCAACCAAAAAACCTCTGTTCTCATTTTAGTTTTCCTACCACTTATATTAAAAAAGAGAGGCTTTGGCTGGGCCCAGTGGCTCACACCTATAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGGATCACCCGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGGAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGCAGTGGCACGCGTCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGGTGCAGTGGGCCCAGATTGCACCACTGCACTCTAGCCTGGGGGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCTTCAGGCCAGGCACAGTGGCTCACACCAATAATCCCAGCACTTTCAGAGGCCAAGGTGGGAGTTTGAGACCATGGTGAAACCCTGTCTGTACAAAAATTACAAAAGGCTGGGAATGGTGGTATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGAATCACTTGAGCCCGCAAGGTCAAGGCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGATGAGAGTTAAGACCCTGTCTGCGGGGTCAGGGAAGAGATCCTTCACAGGAAACCTATCCACTTACCTGTTTTTAAATCTATCTAGTGCAGCAATCCCGAAATAATACATTTTGGATCCAAAAGGCTTGCGTAAGGCTTCAAGAACATATCGTAGAGCCAGACCTAGTGCCATGTAAGTGACCAGTCCTTTCTCAATTATACCACCAAATAGGCAGGCTGTTATATGTAACTCTTTATCAGGATACTGGGGAAAAAAACGATATTCTTCAAACAAGTTCCTTAGCATACAGTTAAATACTTCTCGTTCCCTCTTTATAGTAGAGTCTTTAAATCTCTGCAGCATTTCTAATACCTGGAAAAGCAAGACAAAAACAACGCACACATAAAGGAAACAATTACTAAGAGCCTTTCTCAAATATGCTTAACAAAAGACTATTAAGTAGAACATTTACCAAAAGAGCTTGAGACAAATATTAAGGTTTCAAAACACAAACCGCTATATCAGGGCACTTTGAGCTGGATTTCTAAAAACATTGAAAAGGACATTTATTTAAGACTGGCCTAAACAATAAATAAGTAGATCATCCTAGACACTCACCTCATCAACAGACATGGTTGGATGTGGTGGATGATTATATATTCGCTGGAAATAGCTGTTTGCTTCATCATCTATCTCTTTACTAAAGTGCTGGTTTGCCTCTGGCCACACCTGAGACAAGTCCGCTGTTGGAAACAAAAAAGGAATCAGTGGGCATTTAAGCCCTTCCTCCACTTCCCCATAAAACACAGCCAGCCAGAGACTATTATAGCTCTAACTTCAAGGGAAATATAAAAAAACTGGAAAAGGTATTAAGCGGTCAAGTTTCAGTATTAATGTGTGCTAGGGTAGACGTAAAAGATCCTTAACAAAGTGCCTTCCATAATTCTACATTAGTATTATCTTCATCAGGACTTATTAACACAAAAGTTAACTTGGTTCAAACTCATAACGCACTTACCCTTAATACAACCTCATTAGGTTAACAAATCTTTATCACTTTATAATAAAAATCACATTTAACATATAAGAATTATCATGCATGTGCATGAAAGACTGATGTAAACACAAAGCATGCTACAAAACATAACATTCAGACAAGCCTTTCACACTAACGTTATCAAGTCAGCTGGAATACTTTCAACCTCGTGTCATGACTATGCAGTCCCAATGACAAGGACTTCAGTCAATTATACCTATGGATTTATAAAGATGACTTCTATGAGTTTAGTTAGCATAAAAAATTACTAAGGAGGTGAAACAAAAATTGGAAACAGAAATCTGAAATTGTCCTTCTCACTCCTGACTTGCTTTAAAAAAAACTCAACACATGTTTAGGTTAAGTTCAAGAGTTACATTCGTATATCTACCACATATTAATTTCTCTTTATCATACCTACTTCTTACTTTTAGGATAAACACCCTCAGGATGCAGCCTCTTATTAACCACGACTTTGTTCTGGGAAGGAGTGATACCTCTAACTTTTAATAATTCAAATTTGTGAATTTATTCCCATTGGTCTAGGAGGCACATCAACACATGGCCCTACTAACACAAATGAGACATACAACTAAACATTTTTATCAGTCACACTTCACAATCACAGACAACACTACCACTTACAAGGTTTCATCTTACTCTGCTGGAATGTAGGCTGATTCAGTCCAGAGGTGCCCAGTTTCCTCTGTACAAAAGGGTCGTTATTCACTGCAGGGAGTCCAAGAGCACCAGTTCCTATACCAGTCAGGCTGCCTGTGCCAAGACCACCTACTAGAGAGAACGAAGGCAGCCACAAATCCTATCATTATTCATATTCTTGATTTTATTCACATCTCAGATATATTAATAAGACAGACTTTTAAAATAAAGTCATAGTAACTCTTACTTTAAAAGTCAGAGTCTTTGTTAATTCCCTTATTACATCTATTCAATTTTACAGAGCCTATAAACTAGGCAGTAACGGATAATCCCCAAATTTCTTTAGCATCTGGAATTATTTATATTCTTGATAATGTGCAAAAAATTAATGTATACATTCTCAAAGCACATACTCCTATACCCAAGGTAGTTAAAATAAGGAGCTGGCTGGCTTTTCTCAATGATTCAAATCAAATAATTTCATGATACTATCTTCTAAAGTTACCATGAGTCTCAAAACTTCTTTATTCCTCTCAACTCCGACAAAAGGAATCTTACAATAATTAGAGCTTTGCTAGGAAGGCCTTAATAAGTTCAGTGACGTTTATTTAAATGAATTAATCAAAGCTA
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ACTCAAAAATTTCAGATTTTTATACACAAGATTCCCACTCCAATTCCCTTTTAGCATCAGGCAGGGTGTCTGTACTTTATCTAAGATAAAGATTCTCTTAGTAAAACTGTTTATTCTTCAACTGCATTACAGGTTAAAAGAATGAGTAAAAAGTTTTTGAGGTAAGCCTGCTACTTAGAAAAGATAATCCAAGAATGATTATTTTTTCATGTTCTCTTGTAAGGCCACAAAATGAGCAACCTCAACAAAAGATATGTGTACCTATATCATGCCAATCATTAAGAAATCTTAATGCCATTACTATCAAGTCTACAAAAAAAAGCCAAAATATTAAACCCTCCAAATACTACATAGCTATTTGGGTTTTAGTTACAGAGGGCACTTACCTCCTGTAAATGATGTGGAAATTGCATAAAGTGACTGATAGAAGCCAAATGCTGACAATACTGGGGATAGTCCTTCAATCTGCCAACAAAATTATTCTACCATCATTTCATGTCAGAACAGAAGCATCACTAACAAAATGTTTTTGTCCAAATGCTAATCTAGGTCATTTTTTTCCATCTTACCTATGAATAACTTATTTGAAGAAAATGTCAAAGTGAAGAAAACAAAAATAGAAGGAGAAAATACTTATGATTTTCACAGGATTTACATCAGAAAATACACTACCTCTGATTTTTAAAGGCTATATTTTACTTAAAAATAGATTAAAACGAGCCACTTCTCTGGAAACAATTCAAATTTTCACCAACATACGAATGGAAAAATAATTTGTAGTCAACTCATATAGTAGAATACTACACAGCTGTAAAAAAAAAAACAGACTACTGAAACGTAGTAACGTAAGTCTCAAAAAACTACATATTTGTATGACTCTGTGTAAATGGCATTCTAGAAAAACTTTAGAGATTATCAGAGATTGGAAGTCAGGGAAGGGGACTAACTACAAAGGGGAACAAGGAAACCTCTTGGGAGATAATGAAAATATTCTGCATCAGCCAGGCATGGTAGTTTATGCCTATAATCCCATCACTGTGGGAGGCAGGAAGATCACTTGAGGCCAGGAGTTCCAAAATATTCTGTATCTTGATTGTGGTGGTAGTTACACAACTGTATAAATTTGTCAAAATTCAAAGAACTATACACCTAAAGGGAAGACTTCTACTGTACGAAGTATACCTCATAAATAACCAACCAAAAAACCTCTGTTCTCATTTTAGTTTTCCTACCACTTATATTAAAAAAGAGAGGCTTTGGCTGGGCCCAGTGGCTCACACCTATAATCCCAGCACTCTGGGAGGCCGAGGTGGGTGGATCACCCGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGGAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGCAGTGGCACGCGTCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAAGGTGCAGTGGGCCCAGATTGCACCACTGCACTCTAGCCTGGGGGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGCTTCAGGCCAGGCACAGTGGCTCACACCAATAATCCCAGCACTTTCAGAGGCCAAGGTGGGAGTTTGAGACCATGGTGAAACCCTGTCTGTACAAAAATTACAAAAGGCTGGGAATGGTGGTATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGAATCACTTGAGCCCGCAAGGTCAAGGCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGATGAGAGTTAAGACCCTGTCTGCGGGGTCAGGGAAGAGATCCTTCACAGGAAACCTATCCACTTACCTGTTTTTAAATCTATCTAGTGCAGCAATCCCGAAATAATACATTTTGGATCCAAAAGGCTTGCGTAAGGCTTCAAGAACATATCGTAGAGCCAGACCTAGTGCCATGTAAGTGACCAGTCCTTTCTCAATTATACCACCAAATAGGCAGGCTGTTATATGTAACTCTTTATCAGGATACTGGGGAAAAAAACAATATTCTTCAAACAAGTTCCTTAGCATACAGTTAAATACTTCTCGTTCCCTCTTTATAGTAGAGTCTTTAAATCTCTGCAGCATTTCTAATACCTGGAAAAGCAAGACAAAAACAACGCACACATAAAGGAAACAATTACTAAGAGCCTTTCTCAAATATGCTTAACAAAAGACTATTAAGTAGAACATTTACCAAAAGAGCTTGAGACAAATATTAAGGTTTCAAAACACAAACCGCTATATCAGGGCACTTTGAGCTGGATTTCTAAAAACATTGAAAAGGACATTTATTTAAGACTGGCCTAAACAATAAATAAGTAGATCATCCTAGACACTCACCTCATCAACAGACATGGTTGGATGTGGTGGATGATTATATATTCGCTGGAAATAGCTGTTTGCTTCATCATCTATCTCTTTACTAAAGTGCTGGTTTGCCTCTGGCCACACCTGAGACAAGTCCGCTGTTGGAAACAAAAAAGGAATCAGTGGGCATTTAAGCCCTTCCTCCACTTCCCCATAAAACACAGCCAGCCAGAGACTATTATAGCTCTAACTTCAAGGGAAATATAAAAAAACTGGAAAAGGTATTAAGCGGTCAAGTTTCAGTATTAATGTGTGCTAGGGTAGACGTAAAAGATCCTTAACAAAGTGCCTTCCATAATTCTACATTAGTATTATCTTCATCAGGACTTATTAACACAAAAGTTAACTTGGTTCAAACTCATAACGCACTTACCCTTAATACAACCTCATTAGGTTAACAAATCTTTATCACTTTATAATAAAAATCACATTTAACATATAAGAATTATCATGCATGTGCATGAAAGACTGATGTAAACACAAAGCATGCTACAAAACATAACATTCAGACAAGCCTTTCACACTAACGTTATCAAGTCAGCTGGAATACTTTCAACCTCGTGTCATGACTATGCAGTCCCAATGACAAGGACTTCAGTCAATTATACCTATGGATTTATAAAGATGACTTCTATGAGTTTAGTTAGCATAAAAAATTACTAAGGAGGTGAAACAAAAATTGGAAACAGAAATCTGAAATTGTCCTTCTCACTCCTGACTTGCTTTAAAAAAAACTCAACACATGTTTAGGTTAAGTTCAAGAGTTACATTCGTATATCTACCACATATTAATTTCTCTTTATCATACCTACTTCTTACTTTTAGGATAAACACCCTCAGGATGCAGCCTCTTATTAACCACGACTTTGTTCTGGGAAGGAGTGATACCTCTAACTTTTAATAATTCAAATTTGTGAATTTATTCCCATTGGTCTAGGAGGCACATCAACACATGGCCCTACTAACACAAATGAGACATACAACTAAACATTTTTATCAGTCACACTTCACAATCACAGACAACACTACCACTTACAAGGTTTCATCTTACTCTGCTGGAATGTAGGCTGATTCAGTCCAGAGGTGCCCAGTTTCCTCTGTACAAAAGGGTCGTTATTCACTGCAGGGAGTCCAAGAGCACCAGTTCCTATACCAGTCAGGCTGCCTGTGCCAAGACCACCTACTAGAGAGAACGAAGGCAGCCACAAATCCTATCATTATTCATATTCTTGATTTTATTCACATCTCAGATATATTAATAAGACAGACTTTTAAAATAAAGTCATAGTAACTCTTACTTTAAAAGTCAGAGTCTTTGTTAATTCCCTTATTACATCTATTCAATTTTACAGAGCCTATAAACTAGGCAGTAACGGATAATCCCCAAATTTCTTTAGCATCTGGAATTATTTATATTCTTGATAATGTGCAAAAAATTAATGTATACATTCTCAAAGCACATACTCCTATACCCAAGGTAGTTAAAATAAGGAGCTGGCTGGCTTTTCTCAATGATTCAAATCAAATAATTTCATGATACTATCTTCTAAAGTTACCATGAGTCTCAAAACTTCTTTATTCCTCTCAACTCCGACAAAAGGAATCTTACAATAATTAGAGCTTTGCTAGGAAGGCCTTAATAAGTTCAGTGACGTTTATTTAAATGAATTAATCAAAGCTA
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Task1_train_22770
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The gene CDH11 (cadherin 11) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Teebi hypertelorism syndrome 2
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TCTGGAATTAGACAGTGGTAATGGTTGAACATCTTCATGAAATATACTAAAAACCAATAAATTGTACAAGTTGAACAGGTAAAGTTCATGCTTCATGATATGTAAATTTTTTTCACAACAGAAAAAAAAAAGAGAGTGAGACAGAAAAGCAAATGGCAGCCAGATTTGGCCTATGGGCTATAGTTTGCCAAGGCCTAAACTAGACAGACATCCAGCTCTTTGAGACTATCCTCTAGTGAGGACCTCACATAACCTAAGTGTCCCTGTGATGTAGCCTGGGGGGTGAGGTAGGGAGGAGCAAGAGGAAGGACATCCGATACATCTCTAGGGAGCCCTGGAAGAATTCCTATAGGAGATAACACCTAAGTGGAGATGGAGAAAATGAGTCCAATGTGGTAACTTGGAAAGGCAAGGGCTACCAGCTAGAAGGAGGAACATGTGAAGTCCAGGGATTAGGAGACAGCAGGAGAGCTTCAAAGAATGAGATGGAGGTAGAGGGGTGCAAAGAAGTTTTTTAAACTAAGTGAATGAGGTTAGATTATTTTGAAGAGGGAGACAACAGGGAACCATTTAATCATTAATTTTTTCTTGTGTTTTAACTAAGGTAAGATGTGATGTTTGGATGTGCATTGTATGAGGGTCACTCTGGCTGCAGAGTCAGGATTCATGCAGAGAGGTAAATGAAAGACTGAGGGTTGGGAGACCCTGTGGAGGCATATAAAGAAATCCAAGCAAGAAGGAAATGAGAGGAGTGGCTGTGGGAAAAGAAACCCCTGCTAGAATCCGGTCCAGGGGAAATTCCAGGGCACTATCAACTTCCACTCTGTAAACGTGTGATTCAAGCCCCTTCTCCACCTCCTTCTTATCACCCTCTCATTTTTGTCATTAGCTTCATCAGTCATTAGCTCAGGATGAAGAGGAAAGTGGAGAAGCAGAGTTTTGGATCACTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGCCACCCAGGCTAGAATGCAGTGGCTTGATCTCGGCTTACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGGAGCTGGAATTACAGGTGCATGCCACCATGCCCAGCTAAATTTTGTATTTTTAGTAGAGGCAGGGTTTCATTACATTGTAAAGGCTGGGTTCGAACTCCTTACCTTAGGTGATCCACCCGCCTTAGCCTTCCCAAAGTGATGAGATTACAGATGTGAGCCACGGTGCCCAGCCACAGTTCTGGATCACATTTTTTTTGTCACAAAAAAAGGTATTCATAATAATAAAATCACCTGAAATTTATTTGGACACTTTACTACTTTTACAAAGTACTCAGCAGCAGTTAGACAGAGCTGGCTTTCCTTGCCTCCTGCTCGGTGGCTGTATCATTCCAGGCAAGTCACTTTGTCTTGCATTGCCTCCAATTTCCTCTCATTTTAAGGACTAGCAATTTATACATCGATTAAGTTGAGGGGATTGATTAGATCACATACCTAACCTCCTCATAGAGTAACCAGAGAATGGGAAGGTATTTAATAAATTGCAATTACTATAATTATTTCACAATAATTATTTATATTTCCCCACAGTCCCCTGAGGCAGACAGGCCCAGCTCAGGGCTCCGTCACCTAGTATGCCTGGGGGAATCTGCTCCAGAGCAAAGTCATGTAGCTTGAACAATCCTATCCAAAAAGTCAGGAACAGAGGTGAAGGGAAGCTCATGTCTTCTAAATCTTAATCTTGTTTACATTCTATTGAACCTGATAAACTTGAACCCTTTTTGAAATTGAAAAACGTGGTTCCTACAGGGCTTTCCCAGAACCTCTTGACTCTAAAATTCCCCATCCAAGCTCTTAAAATAAATCCGTCTGTACCTTATCGGGCTGTTGGCAGCATCAGGGTCTTTGGCATGCACTCTCCCAACCACGGTGCCAGCAGCTGCATTTTCTTGGACTTCGTGGATGTAACTTGGGGCCAAGAACATAGGGGGCTCATCAGCATCTTCTACTGAGATCTTGACGGTCACAGTGTCCTTGAAAGGGCCATTGCTGATAAACTTCGGGTCGATGTGCACGTTGGCTGCCTCTACCTTCAAGCTATAGGCTCTTTTGGTTTCAAAATCTACAGGCTGGCAAGAATGAAGAGAAGATTGACAACCAATTCCTTGAAAGAATAATGGAAGAGAAAGACCCGATTGTTTTATAGGGACGAGTGAATATTCCTCAAAGAGAGAAAATCAGAGTCTACTCAATTTCCAATTACCTGAGCCATTTGGTCAGAAAATCACACAAATCAATTGCTGAAACCTAGAATGTGCTTAATGGGTCATTCGAAGAGCACAACAGACACAGAAAGACCACGTCATCTAAAATGAAACTTATTCTATATAGCAACACTAATGTTGCCCAAATAAGTCACTAAGAATTACCTAAGGAAGGGAATTAAAACATTGCAAAAATACATTTGGTACCTCATTCTGAAAACTAAGAATCCTGGTAACAAAAATACCACTGAATTTCAGCCAAAAAGCATGTCTTGTTTGATGACTGCTTCATACCTCTCCCACCCGCAACCATCCAGCTTGATCATATTGAAAGCTTCATGTTGAAAGTTTCTGACCACGTTGTTTCCCAATGTCTGGGACTCTTACCAGCAGTGGCCCATAAGATGACATAGGGTGGTTTATAGGTAATTTGATAGGTGAGGTTGTCAAATGATATTAACTCACATAGTGAGATAATTCTTTCTTTTCCAAGTCTTTAAATCCTTGACACACCAAGTAGAACATCTCCGTTTTAACACATCTGCTCTGCTTCACAATCTCTTTTGTGAGATATTATGATACAACTCTAGCTAGAATGTAATGGCATCGTTTTGGTTTGATTGCATTTATTTTTAAGTTACCTTCTATTTTTGGCAAGTGACAAGATAATAAGGGAAATGTTTCCTTTTTTAAAATGCTTCTTTTTTTAAAAAAAAAAAGAATGCATATATATTAAAGATGGTCTATTTAAAGAAAAACAAATGAAAGCAGTAAAATTTTACACAAATATGAAAGAAAAAAAATGAGTAGTAGCATTTGAATGGCTGTAGTTATAGGGAAATTGATAGTAAACACTGCCTAATTTTGAATGAGAGGAGTTACAGTGAATCAGTCAGCAAAGGATGGAAAGTAACATTGTAGCAGAGAAACAAGCCCGGCTGCCTGGGAAACAACTTTCTAATTAGTGCTCTGGATGTTGCTGAACTACCAAATGTTTGGAAAGAGTTTCATCTTTTAAGGCGAGCATCTGCCTGCCATGCTGTTGTCATTTGCCTGGCAAACGCTTATTCTGAATGGGCATATAGTCATGGGGCTTATTCCTGATCTAATTTTGCAGTACTCTACACTAAAGCTGATGATCCCAGTTTCAACAGGGTTAAGCAAGTTCAATATCCTTGATACTTTTTCTATCATCTTCCCACCTCCATCTTCCCAGAGTCAGGAAACACTACCTTTTCCTAAATCTAAATCTGCCCCCAGCCTTTCCATCATCCTGGGACCCAGCAGTTCCTTTATCCTTGGCTAGGTTACTGAGCAGCAGAAAGGAATGATATTTATAGGCTGAACATACAAGATTGCTGCAACTTCTAAAAAATCCTTTCAAATATTAGATAGCATTAAACACTGGAATATGATAGTTCTGAGACTGGGTAATTTATAATCAGAAAAGTGGAAATTTTCTAATATCACATAGTCTGTTGATCTTGCTAGAGCAGAAACTTTTGTACTTGGTTTAGGCATATGCCTGAGAACCTGGAGCTATTTTCCCACTGGGAAGCCCTGTGGGTGTTGAGGATAATATCCTCATGCTGCAGTTTCACATCCCAAGCTAGGCTCTCCAGGCCTTTGCAGAGGTTTATGTGGGATGTACTTTCCCAGTTTGGCGAGATTCCAAGTCTGGTAGTCAGTTCAAGCCTCATTGCCTTGTGAAGTCCTCCTCAACAGCCCCAGATAGATTTGTGTGGCCCCCTAGTGGCCCTTTGGCAGCCCTTCATTTCCCTCCCCAGCGAG
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TCTGGAATTAGACAGTGGTAATGGTTGAACATCTTCATGAAATATACTAAAAACCAATAAATTGTACAAGTTGAACAGGTAAAGTTCATGCTTCATGATATGTAAATTTTTTTCACAACAGAAAAAAAAAAGAGAGTGAGACAGAAAAGCAAATGGCAGCCAGATTTGGCCTATGGGCTATAGTTTGCCAAGGCCTAAACTAGACAGACATCCAGCTCTTTGAGACTATCCTCTAGTGAGGACCTCACATAACCTAAGTGTCCCTGTGATGTAGCCTGGGGGGTGAGGTAGGGAGGAGCAAGAGGAAGGACATCCGATACATCTCTAGGGAGCCCTGGAAGAATTCCTATAGGAGATAACACCTAAGTGGAGATGGAGAAAATGAGTCCAATGTGGTAACTTGGAAAGGCAAGGGCTACCAGCTAGAAGGAGGAACATGTGAAGTCCAGGGATTAGGAGACAGCAGGAGAGCTTCAAAGAATGAGATGGAGGTAGAGGGGTGCAAAGAAGTTTTTTAAACTAAGTGAATGAGGTTAGATTATTTTGAAGAGGGAGACAACAGGGAACCATTTAATCATTAATTTTTTCTTGTGTTTTAACTAAGGTAAGATGTGATGTTTGGATGTGCATTGTATGAGGGTCACTCTGGCTGCAGAGTCAGGATTCATGCAGAGAGGTAAATGAAAGACTGAGGGTTGGGAGACCCTGTGGAGGCATATAAAGAAATCCAAGCAAGAAGGAAATGAGAGGAGTGGCTGTGGGAAAAGAAACCCCTGCTAGAATCCGGTCCAGGGGAAATTCCAGGGCACTATCAACTTCCACTCTGTAAACGTGTGATTCAAGCCCCTTCTCCACCTCCTTCTTATCACCCTCTCATTTTTGTCATTAGCTTCATCAGTCATTAGCTCAGGATGAAGAGGAAAGTGGAGAAGCAGAGTTTTGGATCACTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGCCACCCAGGCTAGAATGCAGTGGCTTGATCTCGGCTTACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGGAGCTGGAATTACAGGTGCATGCCACCATGCCCAGCTAAATTTTGTATTTTTAGTAGAGGCAGGGTTTCATTACATTGTAAAGGCTGGGTTCGAACTCCTTACCTTAGGTGATCCACCCGCCTTAGCCTTCCCAAAGTGATGAGATTACAGATGTGAGCCACGGTGCCCAGCCACAGTTCTGGATCACATTTTTTTTGTCACAAAAAAAGGTATTCATAATAATAAAATCACCTGAAATTTATTTGGACACTTTACTACTTTTACAAAGTACTCAGCAGCAGTTAGACAGAGCTGGCTTTCCTTGCCTCCTGCTCGGTGGCTGTATCATTCCAGGCAAGTCACTTTGTCTTGCATTGCCTCCAATTTCCTCTCATTTTAAGGACTAGCAATTTATACATCGATTAAGTTGAGGGGATTGATTAGATCACATACCTAACCTCCTCATAGAGTAACCAGAGAATGGGAAGGTATTTAATAAATTGCAATTACTATAATTATTTCACAATAATTATTTATATTTCCCCACAGTCCCCTGAGGCAGACAGGCCCAGCTCAGGGCTCCGTCACCTAGTATGCCTGGGGGAATCTGCTCCAGAGCAAAGTCATGTAGCTTGAACAATCCTATCCAAAAAGTCAGGAACAGAGGTGAAGGGAAGCTCATGTCTTCTAAATCTTAATCTTGTTTACATTCTATTGAACCTGATAAACTTGAACCCTTTTTGAAATTGAAAAACGTGGTTCCTACAGGGCTTTCCCAGAACCTCTTGACTCTAAAATTCCCCATCCAAGCTCTTAAAATAAATCCGTCTGTACCTTATCGGGCTGTTGGCAGCATCAGGGTCTTTGGCATGCACTCTCCCAACCACGGTGCCAGCAGCTGCATTTTCTTGGACTTCGTGGATGTAACTTGGGGCCAAGAACATAGGGGGCTCATCAGCATCTTCTTCTGAGATCTTGACGGTCACAGTGTCCTTGAAAGGGCCATTGCTGATAAACTTCGGGTCGATGTGCACGTTGGCTGCCTCTACCTTCAAGCTATAGGCTCTTTTGGTTTCAAAATCTACAGGCTGGCAAGAATGAAGAGAAGATTGACAACCAATTCCTTGAAAGAATAATGGAAGAGAAAGACCCGATTGTTTTATAGGGACGAGTGAATATTCCTCAAAGAGAGAAAATCAGAGTCTACTCAATTTCCAATTACCTGAGCCATTTGGTCAGAAAATCACACAAATCAATTGCTGAAACCTAGAATGTGCTTAATGGGTCATTCGAAGAGCACAACAGACACAGAAAGACCACGTCATCTAAAATGAAACTTATTCTATATAGCAACACTAATGTTGCCCAAATAAGTCACTAAGAATTACCTAAGGAAGGGAATTAAAACATTGCAAAAATACATTTGGTACCTCATTCTGAAAACTAAGAATCCTGGTAACAAAAATACCACTGAATTTCAGCCAAAAAGCATGTCTTGTTTGATGACTGCTTCATACCTCTCCCACCCGCAACCATCCAGCTTGATCATATTGAAAGCTTCATGTTGAAAGTTTCTGACCACGTTGTTTCCCAATGTCTGGGACTCTTACCAGCAGTGGCCCATAAGATGACATAGGGTGGTTTATAGGTAATTTGATAGGTGAGGTTGTCAAATGATATTAACTCACATAGTGAGATAATTCTTTCTTTTCCAAGTCTTTAAATCCTTGACACACCAAGTAGAACATCTCCGTTTTAACACATCTGCTCTGCTTCACAATCTCTTTTGTGAGATATTATGATACAACTCTAGCTAGAATGTAATGGCATCGTTTTGGTTTGATTGCATTTATTTTTAAGTTACCTTCTATTTTTGGCAAGTGACAAGATAATAAGGGAAATGTTTCCTTTTTTAAAATGCTTCTTTTTTTAAAAAAAAAAAGAATGCATATATATTAAAGATGGTCTATTTAAAGAAAAACAAATGAAAGCAGTAAAATTTTACACAAATATGAAAGAAAAAAAATGAGTAGTAGCATTTGAATGGCTGTAGTTATAGGGAAATTGATAGTAAACACTGCCTAATTTTGAATGAGAGGAGTTACAGTGAATCAGTCAGCAAAGGATGGAAAGTAACATTGTAGCAGAGAAACAAGCCCGGCTGCCTGGGAAACAACTTTCTAATTAGTGCTCTGGATGTTGCTGAACTACCAAATGTTTGGAAAGAGTTTCATCTTTTAAGGCGAGCATCTGCCTGCCATGCTGTTGTCATTTGCCTGGCAAACGCTTATTCTGAATGGGCATATAGTCATGGGGCTTATTCCTGATCTAATTTTGCAGTACTCTACACTAAAGCTGATGATCCCAGTTTCAACAGGGTTAAGCAAGTTCAATATCCTTGATACTTTTTCTATCATCTTCCCACCTCCATCTTCCCAGAGTCAGGAAACACTACCTTTTCCTAAATCTAAATCTGCCCCCAGCCTTTCCATCATCCTGGGACCCAGCAGTTCCTTTATCCTTGGCTAGGTTACTGAGCAGCAGAAAGGAATGATATTTATAGGCTGAACATACAAGATTGCTGCAACTTCTAAAAAATCCTTTCAAATATTAGATAGCATTAAACACTGGAATATGATAGTTCTGAGACTGGGTAATTTATAATCAGAAAAGTGGAAATTTTCTAATATCACATAGTCTGTTGATCTTGCTAGAGCAGAAACTTTTGTACTTGGTTTAGGCATATGCCTGAGAACCTGGAGCTATTTTCCCACTGGGAAGCCCTGTGGGTGTTGAGGATAATATCCTCATGCTGCAGTTTCACATCCCAAGCTAGGCTCTCCAGGCCTTTGCAGAGGTTTATGTGGGATGTACTTTCCCAGTTTGGCGAGATTCCAAGTCTGGTAGTCAGTTCAAGCCTCATTGCCTTGTGAAGTCCTCCTCAACAGCCCCAGATAGATTTGTGTGGCCCCCTAGTGGCCCTTTGGCAGCCCTTCATTTCCCTCCCCAGCGAG
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Task1_train_22771
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Given this context: Chromosome 16, gene CDH11 (cadherin 11) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Teebi hypertelorism syndrome 2
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ATGGAATGACTTTCACAAGGAGTCATATTTTTACTCTGTTAAATTCATCTATAATTTTTCTTTTTTTTCCCCCGGTGGACATTTGGAACTTTGTGCTAGAAGTTTGAGCAAATGTTCTTTTACAAATGCAATAACATCTTACACTATTTAAAACCTAAGCATCAGTGCTTTATAGAAGATTATTCCTTTGCCTAGAATAAACACACTGAATTGGAGGCAAATGTGCAAATTAATCATATGCAGAGAGCTCATTTGCGACGTGTGAGTTCCATGGGGGTGATTTAAATGTTTCAGGATTTCAGAGATACAGTGTGTGTTTATGCCCTGAATACACTAAAAACAGGTGACAACCTTAGCATAACCAACTACCCAATTACATGAACAGCAAAGGATGGGAGGCAGGAATTGCTGATGTCAATGTTCATATGTCAGTGTCAAGCAGAAGAGATAGTAATATTAATTAACGAAGTAAGTTGACAGCTCTAGGCAACACACAATTCACACAGCTACTTTTCCAGAGGAGAAACCAGAATTAGTGACTGCCCTAGCTCCCTGTGGTTGATAATTAGGCTTCCTCGGTCCTACCATTCATCCATTAATGTAGACTTTTCCAAGTATCCAAATTTCACCCCAATTTCCATATCCTTCATTTTCTTTCTTTTTTTATAACAATCACCCCCTACCTTTTCTTTGTTTTGTGCTCTATAATATTTTCCCCAACCCCAACATACTTTAAAAGTCTGTGAAAGGTCAGTTTCTTAGCACAGGTCACTCCTTGCTCCCCCACCTGAAAGATTCCTTTCAGGACCTGTCTTCCCCCACTGGTCCTTCCCTCCTCTTTAGCTACTGGCCTCTTTATTGATGCTTCAAATTAATTTTCTATCAGTGTTAGAGTCCAGTCTTTTCCATCGCACCAAGGAGTTTAATATTCATGCTATAAAACTAAGTTGAAAATGAACGCTTGATTAAAACCAAGGTAATCCCATCTTCCAATTCCGATTTAATGCTCCATACACTTTCATGATGGAGAGGTGTTGATTTCTCAAGTGGTAAATCACGGGGGGAAACCTTTTTAGAATGTACGGGAATTATTTCTTCACTTGGAAGTGAATCTTATCTGGCTCTTCTTTACAAACGCTTTCCAGGCCAGCTGTTTTCAAAATGTCTTGAGAGGGAAGTTGTTCTAGAATAACTAAGGTGTGAATTCCAGGTCGGCATGCCTGAGCTATATGACAGTGACTGGGTCAAATGATTTCATCTGTCTGAGCCCCAATCTCCTCAAAATTAAGTTGAGGTCTCTTTGCCCATTGGGATAACACTACCTACTTCATACTTTTGTTTGTTTTTGTGAAAAGTAAATGAAATGATGTTTGTAAGAGGATGGTGCTGTGTCTGGCCAGTAGTCAGTATTGAGCGCATGTAAAAAAGAAGAAACACTAAACTTCTCTTTGTAATAAATTAATTCCAGATACATGTTTTTGGAGACTGACTATGAGGGGAGGTCCACAGGCTCTTTGACTAGGGGAGAAGGTCCATTATTGTTGCTTCTCCAGGTTCACTTGAGATAAAAACAAGTAGAGAAGGCTTCAGTTTCACAGAGGGTCCAGCAATGCAGTGAATCTTGAATGTTGAAACAGTAAGAGTTCTGAACAGCTTATCTAACAGATTCAGTGTGGCAGAGCTAAGGGGGGAATTCCATGCATGCTCAGGGCTGCTTCTTCAAAATCTAGATTTATCTCATTGTCCTTCCCTCCATGGGAGAACTGTGCTTCCCTCCATCGGAAAACATTTAAGAACTAACTAGCAATCTCAGGCAGGTATCACCAGCCCCTTTGTCAGCTTCTCTGCAGTAACAGAAAGGAATACAATTCTGTGATCTTCCAGAGCTCAGAGCTCAACTACAAAGTCAGGTCAGCCCCTGGTTTCGCAAATTCTCATTTCTTAACCGTCGCCTCCCTGTTTCTTGCAGTGTTGCCTTGGCAGAGCAGGCCATACCACTGACACGTCTGATTCCTTACCCTAACTCACCTTTTTCAGCTTTATCACCCCCTCCTGTGTTTCATAGTCCGTTGTGATTTCAAACGATTCCATACCATCTCCATCAACAATATTGTATGTGACTAAGCCATTTTCTCCAATGTCTGGATCTTTAGCTTTCACTCTTCCTACTTCCTCCCCAGGGACGGCTGCTTCTGACACAGACATCTGGTATACGCCTAGAAGAAGAAGACATCTATTTTTATTTTCTCTTTTATTTGGCAGCTGTAAGACTATAGATTTCATTGAATCCCAATAAATTTCTCAAAGGATTTGAAATTGAACTTTCTATTGACTGAAAACATGAAAGAAGTGAGTGGATGTGGGGAGGAGGATCCCACATGGCCTGCTTGTCAAAAGAATGTGTTCTACGAAGGGTGATAAAACAATATCTGGGTCCAGGTGAAATGCTGGGGTCACCTGCCACATGTAAGGGAGAAAAACAATGCTCTGTTACATTTCCCATCAGGTAATGATGGAGAACCATGCATGTCTTCATTTAGCAAAATAGCTGAAGCTTCTTTTCATGTCTTCAGGATGGTCCATGAGTTAACTCCAAGGCTCACTTATGGTATTGCGAAGAGCCCAGAAAAAAAAAATTCTCTGTTTAAAAGCCTTCCTTCAACAGCTCCATAGTTACTTTAAAAATGCAAACTTTAACATCCCTCCCTGTCTAACTCTATATTCGACACTCCCCTTATTTCACCTCCTTCGCAACTTGCCTGCTTCACAAGTTGGTCATGCGTTACCTTCTCCAGAAGGCTTTCCTGCAGTGTGACCCTCCTATATATTTATTTAATGTTTATTGGGAGCCTAATACTGTACATGGAGGTACTGTCCTAGTGCCAGGACACTGTTTTGTTTGCTTGTTTTGTTTACTACTAAACAAAACAGTCAAGATTCCTCTCTTAATGAGGCCGACTAAAGAGAAAAAATAAAAACAAATGTAAACACACTCTGATGTCACTGCAATGAAAAAGGAAAATAAAGTAGGGTAAAAGGGTGAGGGTTCTGAGAGTGGGTGTGTGGTTGTGGGTGTGTAAGTGCATGATTGTGTGTGAGGGTGAGGGGGTAAATGTGTGAGTGGCCATGAGTGATTGTGTGGGCATGAATCTGTTGTGTAAGAGTGTGAGTGTGTGTATGAATGTGAGCTATTTGTGAGTGAGTTTGTGTATGTGTATGAGTGTGATTGAACACGCATGCTTGTGTTAATAATGTGTGGGTGATAAGCAGAAAGAGGGAGAGATTGGTTTTGCGTAGTGTGGTAGGAGAAGACATTCTTTAGAAAAAGGAATCTAAAATGACTGAGGAAGACAATGACGTGCATATCTGCAGGATAAAAACTACCAGCCAGGTGATTAGCAAATGGCAAAAACCCTAAGGTGAGAAGATCCTGAATACTTGCAGAGGAGCAAGAGGAGGAGAGTGACTACAGCCTTCTGGTGAGAGAGAAGGGCTGTAAGGAAGTGGAGGCCAAATTGCGTAAAATAGACCATTGTGGGGAATGGAAAAGACTTCAGGTTTTGTTTAAACTTGGGGAAATCACTGGAAGGTTTGCACTAAGTAGCTAAGATTCAACATTATCTTATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTATGTGGATTTTGTCCAAATCTCATTCAAGTTCACGGCAGTGAAACCAGTAAAACCAGTACAGTAGCAATGTAACTTTACTATATGATTGTCTATGACCAAGGGCAGTAAAGGCTGCCTGCTAATAATTCTGCTTGACCTTTCTTTTCCAGCTC
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ATGGAATGACTTTCACAAGGAGTCATATTTTTACTCTGTTAAATTCATCTATAATTTTTCTTTTTTTTCCCCCGGTGGACATTTGGAACTTTGTGCTAGAAGTTTGAGCAAATGTTCTTTTACAAATGCAATAACATCTTACACTATTTAAAACCTAAGCATCAGTGCTTTATAGAAGATTATTCCTTTGCCTAGAATAAACACACTGAATTGGAGGCAAATGTGCAAATTAATCATATGCAGAGAGCTCATTTGCGACGTGTGAGTTCCATGGGGGTGATTTAAATGTTTCAGGATTTCAGAGATACAGTGTGTGTTTATGCCCTGAATACACTAAAAACAGGTGACAACCTTAGCATAACCAACTACCCAATTACATGAACAGCAAAGGATGGGAGGCAGGAATTGCTGATGTCAATGTTCATATGTCAGTGTCAAGCAGAAGAGATAGTAATATTAATTAACGAAGTAAGTTGACAGCTCTAGGCAACACACAATTCACACAGCTACTTTTCCAGAGGAGAAACCAGAATTAGTGACTGCCCTAGCTCCCTGTGGTTGATAATTAGGCTTCCTCGGTCCTACCATTCATCCATTAATGTAGACTTTTCCAAGTATCCAAATTTCACCCCAATTTCCATATCCTTCATTTTCTTTCTTTTTTTATAACAATCACCCCCTACCTTTTCTTTGTTTTGTGCTCTATAATATTTTCCCCAACCCCAACATACTTTAAAAGTCTGTGAAAGGTCAGTTTCTTAGCACAGGTCACTCCTTGCTCCCCCACCTGAAAGATTCCTTTCAGGACCTGTCTTCCCCCACTGGTCCTTCCCTCCTCTTTAGCTACTGGCCTCTTTATTGATGCTTCAAATTAATTTTCTATCAGTGTTAGAGTCCAGTCTTTTCCATCGCACCAAGGAGTTTAATATTCATGCTATAAAACTAAGTTGAAAATGAACGCTTGATTAAAACCAAGGTAATCCCATCTTCCAATTCCGATTTAATGCTCCATACACTTTCATGATGGAGAGGTGTTGATTTCTCAAGTGGTAAATCACGGGGGGAAACCTTTTTAGAATGTACGGGAATTATTTCTTCACTTGGAAGTGAATCTTATCTGGCTCTTCTTTACAAACGCTTTCCAGGCCAGCTGTTTTCAAAATGTCTTGAGAGGGAAGTTGTTCTAGAATAACTAAGGTGTGAATTCCAGGTCGGCATGCCTGAGCTATATGACAGTGACTGGGTCAAATGATTTCATCTGTCTGAGCCCCAATCTCCTCAAAATTAAGTTGAGGTCTCTTTGCCCATTGGGATAACACTACCTACTTCATACTTTTGTTTGTTTTTGTGAAAAGTAAATGAAATGATGTTTGTAAGAGGATGGTGCTGTGTCTGGCCAGTAGTCAGTATTGAGCGCATGTAAAAAAGAAGAAACACTAAACTTCTCTTTGTAATAAATTAATTCCAGATACATGTTTTTGGAGACTGACTATGAGGGGAGGTCCACAGGCTCTTTGACTAGGGGAGAAGGTCCATTATTGTTGCTTCTCCAGGTTCACTTGAGATAAAAACAAGTAGAGAAGGCTTCAGTTTCACAGAGGGTCCAGCAATGCAGTGAATCTTGAATGTTGAAACAGTAAGAGTTCTGAACAGCTTATCTAACAGATTCAGTGTGGCAGAGCTAAGGGGGGAATTCCATGCATGCTCAGGGCTGCTTCTTCAAAATCTAGATTTATCTCATTGTCCTTCCCTCCATGGGAGAACTGTGCTTCCCTCCATCGGAAAACATTTAAGAACTAACTAGCAATCTCAGGCAGGTATCACCAGCCCCTTTGTCAGCTTCTCTGCAGTAACAGAAAGGAATACAATTCTGTGATCTTCCAGAGCTCAGAGCTCAACTACAAAGTCAGGTCAGCCCCTGGTTTCGCAAATTCTCATTTCTTAACCGTCGCCTCCCTGTTTCTTGCAGTGTTGCCTTGGCAGAGCAGGCCATACCACTGACACGTCTGATTCCTTACCCTAACTCACCTTTTTCAGCTTTATCACCCACTCCTGTGTTTCATAGTCCGTTGTGATTTCAAACGATTCCATACCATCTCCATCAACAATATTGTATGTGACTAAGCCATTTTCTCCAATGTCTGGATCTTTAGCTTTCACTCTTCCTACTTCCTCCCCAGGGACGGCTGCTTCTGACACAGACATCTGGTATACGCCTAGAAGAAGAAGACATCTATTTTTATTTTCTCTTTTATTTGGCAGCTGTAAGACTATAGATTTCATTGAATCCCAATAAATTTCTCAAAGGATTTGAAATTGAACTTTCTATTGACTGAAAACATGAAAGAAGTGAGTGGATGTGGGGAGGAGGATCCCACATGGCCTGCTTGTCAAAAGAATGTGTTCTACGAAGGGTGATAAAACAATATCTGGGTCCAGGTGAAATGCTGGGGTCACCTGCCACATGTAAGGGAGAAAAACAATGCTCTGTTACATTTCCCATCAGGTAATGATGGAGAACCATGCATGTCTTCATTTAGCAAAATAGCTGAAGCTTCTTTTCATGTCTTCAGGATGGTCCATGAGTTAACTCCAAGGCTCACTTATGGTATTGCGAAGAGCCCAGAAAAAAAAAATTCTCTGTTTAAAAGCCTTCCTTCAACAGCTCCATAGTTACTTTAAAAATGCAAACTTTAACATCCCTCCCTGTCTAACTCTATATTCGACACTCCCCTTATTTCACCTCCTTCGCAACTTGCCTGCTTCACAAGTTGGTCATGCGTTACCTTCTCCAGAAGGCTTTCCTGCAGTGTGACCCTCCTATATATTTATTTAATGTTTATTGGGAGCCTAATACTGTACATGGAGGTACTGTCCTAGTGCCAGGACACTGTTTTGTTTGCTTGTTTTGTTTACTACTAAACAAAACAGTCAAGATTCCTCTCTTAATGAGGCCGACTAAAGAGAAAAAATAAAAACAAATGTAAACACACTCTGATGTCACTGCAATGAAAAAGGAAAATAAAGTAGGGTAAAAGGGTGAGGGTTCTGAGAGTGGGTGTGTGGTTGTGGGTGTGTAAGTGCATGATTGTGTGTGAGGGTGAGGGGGTAAATGTGTGAGTGGCCATGAGTGATTGTGTGGGCATGAATCTGTTGTGTAAGAGTGTGAGTGTGTGTATGAATGTGAGCTATTTGTGAGTGAGTTTGTGTATGTGTATGAGTGTGATTGAACACGCATGCTTGTGTTAATAATGTGTGGGTGATAAGCAGAAAGAGGGAGAGATTGGTTTTGCGTAGTGTGGTAGGAGAAGACATTCTTTAGAAAAAGGAATCTAAAATGACTGAGGAAGACAATGACGTGCATATCTGCAGGATAAAAACTACCAGCCAGGTGATTAGCAAATGGCAAAAACCCTAAGGTGAGAAGATCCTGAATACTTGCAGAGGAGCAAGAGGAGGAGAGTGACTACAGCCTTCTGGTGAGAGAGAAGGGCTGTAAGGAAGTGGAGGCCAAATTGCGTAAAATAGACCATTGTGGGGAATGGAAAAGACTTCAGGTTTTGTTTAAACTTGGGGAAATCACTGGAAGGTTTGCACTAAGTAGCTAAGATTCAACATTATCTTATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTATGTGGATTTTGTCCAAATCTCATTCAAGTTCACGGCAGTGAAACCAGTAAAACCAGTACAGTAGCAATGTAACTTTACTATATGATTGTCTATGACCAAGGGCAGTAAAGGCTGCCTGCTAATAATTCTGCTTGACCTTTCTTTTCCAGCTC
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Task1_train_22772
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The variant affects gene CDH11 (cadherin 11), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Teebi hypertelorism syndrome 2
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TATTTAAAACCTAAGCATCAGTGCTTTATAGAAGATTATTCCTTTGCCTAGAATAAACACACTGAATTGGAGGCAAATGTGCAAATTAATCATATGCAGAGAGCTCATTTGCGACGTGTGAGTTCCATGGGGGTGATTTAAATGTTTCAGGATTTCAGAGATACAGTGTGTGTTTATGCCCTGAATACACTAAAAACAGGTGACAACCTTAGCATAACCAACTACCCAATTACATGAACAGCAAAGGATGGGAGGCAGGAATTGCTGATGTCAATGTTCATATGTCAGTGTCAAGCAGAAGAGATAGTAATATTAATTAACGAAGTAAGTTGACAGCTCTAGGCAACACACAATTCACACAGCTACTTTTCCAGAGGAGAAACCAGAATTAGTGACTGCCCTAGCTCCCTGTGGTTGATAATTAGGCTTCCTCGGTCCTACCATTCATCCATTAATGTAGACTTTTCCAAGTATCCAAATTTCACCCCAATTTCCATATCCTTCATTTTCTTTCTTTTTTTATAACAATCACCCCCTACCTTTTCTTTGTTTTGTGCTCTATAATATTTTCCCCAACCCCAACATACTTTAAAAGTCTGTGAAAGGTCAGTTTCTTAGCACAGGTCACTCCTTGCTCCCCCACCTGAAAGATTCCTTTCAGGACCTGTCTTCCCCCACTGGTCCTTCCCTCCTCTTTAGCTACTGGCCTCTTTATTGATGCTTCAAATTAATTTTCTATCAGTGTTAGAGTCCAGTCTTTTCCATCGCACCAAGGAGTTTAATATTCATGCTATAAAACTAAGTTGAAAATGAACGCTTGATTAAAACCAAGGTAATCCCATCTTCCAATTCCGATTTAATGCTCCATACACTTTCATGATGGAGAGGTGTTGATTTCTCAAGTGGTAAATCACGGGGGGAAACCTTTTTAGAATGTACGGGAATTATTTCTTCACTTGGAAGTGAATCTTATCTGGCTCTTCTTTACAAACGCTTTCCAGGCCAGCTGTTTTCAAAATGTCTTGAGAGGGAAGTTGTTCTAGAATAACTAAGGTGTGAATTCCAGGTCGGCATGCCTGAGCTATATGACAGTGACTGGGTCAAATGATTTCATCTGTCTGAGCCCCAATCTCCTCAAAATTAAGTTGAGGTCTCTTTGCCCATTGGGATAACACTACCTACTTCATACTTTTGTTTGTTTTTGTGAAAAGTAAATGAAATGATGTTTGTAAGAGGATGGTGCTGTGTCTGGCCAGTAGTCAGTATTGAGCGCATGTAAAAAAGAAGAAACACTAAACTTCTCTTTGTAATAAATTAATTCCAGATACATGTTTTTGGAGACTGACTATGAGGGGAGGTCCACAGGCTCTTTGACTAGGGGAGAAGGTCCATTATTGTTGCTTCTCCAGGTTCACTTGAGATAAAAACAAGTAGAGAAGGCTTCAGTTTCACAGAGGGTCCAGCAATGCAGTGAATCTTGAATGTTGAAACAGTAAGAGTTCTGAACAGCTTATCTAACAGATTCAGTGTGGCAGAGCTAAGGGGGGAATTCCATGCATGCTCAGGGCTGCTTCTTCAAAATCTAGATTTATCTCATTGTCCTTCCCTCCATGGGAGAACTGTGCTTCCCTCCATCGGAAAACATTTAAGAACTAACTAGCAATCTCAGGCAGGTATCACCAGCCCCTTTGTCAGCTTCTCTGCAGTAACAGAAAGGAATACAATTCTGTGATCTTCCAGAGCTCAGAGCTCAACTACAAAGTCAGGTCAGCCCCTGGTTTCGCAAATTCTCATTTCTTAACCGTCGCCTCCCTGTTTCTTGCAGTGTTGCCTTGGCAGAGCAGGCCATACCACTGACACGTCTGATTCCTTACCCTAACTCACCTTTTTCAGCTTTATCACCCCCTCCTGTGTTTCATAGTCCGTTGTGATTTCAAACGATTCCATACCATCTCCATCAACAATATTGTATGTGACTAAGCCATTTTCTCCAATGTCTGGATCTTTAGCTTTCACTCTTCCTACTTCCTCCCCAGGGACGGCTGCTTCTGACACAGACATCTGGTATACGCCTAGAAGAAGAAGACATCTATTTTTATTTTCTCTTTTATTTGGCAGCTGTAAGACTATAGATTTCATTGAATCCCAATAAATTTCTCAAAGGATTTGAAATTGAACTTTCTATTGACTGAAAACATGAAAGAAGTGAGTGGATGTGGGGAGGAGGATCCCACATGGCCTGCTTGTCAAAAGAATGTGTTCTACGAAGGGTGATAAAACAATATCTGGGTCCAGGTGAAATGCTGGGGTCACCTGCCACATGTAAGGGAGAAAAACAATGCTCTGTTACATTTCCCATCAGGTAATGATGGAGAACCATGCATGTCTTCATTTAGCAAAATAGCTGAAGCTTCTTTTCATGTCTTCAGGATGGTCCATGAGTTAACTCCAAGGCTCACTTATGGTATTGCGAAGAGCCCAGAAAAAAAAAATTCTCTGTTTAAAAGCCTTCCTTCAACAGCTCCATAGTTACTTTAAAAATGCAAACTTTAACATCCCTCCCTGTCTAACTCTATATTCGACACTCCCCTTATTTCACCTCCTTCGCAACTTGCCTGCTTCACAAGTTGGTCATGCGTTACCTTCTCCAGAAGGCTTTCCTGCAGTGTGACCCTCCTATATATTTATTTAATGTTTATTGGGAGCCTAATACTGTACATGGAGGTACTGTCCTAGTGCCAGGACACTGTTTTGTTTGCTTGTTTTGTTTACTACTAAACAAAACAGTCAAGATTCCTCTCTTAATGAGGCCGACTAAAGAGAAAAAATAAAAACAAATGTAAACACACTCTGATGTCACTGCAATGAAAAAGGAAAATAAAGTAGGGTAAAAGGGTGAGGGTTCTGAGAGTGGGTGTGTGGTTGTGGGTGTGTAAGTGCATGATTGTGTGTGAGGGTGAGGGGGTAAATGTGTGAGTGGCCATGAGTGATTGTGTGGGCATGAATCTGTTGTGTAAGAGTGTGAGTGTGTGTATGAATGTGAGCTATTTGTGAGTGAGTTTGTGTATGTGTATGAGTGTGATTGAACACGCATGCTTGTGTTAATAATGTGTGGGTGATAAGCAGAAAGAGGGAGAGATTGGTTTTGCGTAGTGTGGTAGGAGAAGACATTCTTTAGAAAAAGGAATCTAAAATGACTGAGGAAGACAATGACGTGCATATCTGCAGGATAAAAACTACCAGCCAGGTGATTAGCAAATGGCAAAAACCCTAAGGTGAGAAGATCCTGAATACTTGCAGAGGAGCAAGAGGAGGAGAGTGACTACAGCCTTCTGGTGAGAGAGAAGGGCTGTAAGGAAGTGGAGGCCAAATTGCGTAAAATAGACCATTGTGGGGAATGGAAAAGACTTCAGGTTTTGTTTAAACTTGGGGAAATCACTGGAAGGTTTGCACTAAGTAGCTAAGATTCAACATTATCTTATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTATGTGGATTTTGTCCAAATCTCATTCAAGTTCACGGCAGTGAAACCAGTAAAACCAGTACAGTAGCAATGTAACTTTACTATATGATTGTCTATGACCAAGGGCAGTAAAGGCTGCCTGCTAATAATTCTGCTTGACCTTTCTTTTCCAGCTCACCAGACAATCGTACAGTGTGGATAATGGAGCATGCAGCTCTTTGAATGTTATATGAGCCTCAGGCTTATTGAGGATGCTGAACTTGTGCCCGGCCAGGCAAAAGAGTCTTGTGTAGATTCTTGCTTTTGAATTCCTTTGAGTA
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TATTTAAAACCTAAGCATCAGTGCTTTATAGAAGATTATTCCTTTGCCTAGAATAAACACACTGAATTGGAGGCAAATGTGCAAATTAATCATATGCAGAGAGCTCATTTGCGACGTGTGAGTTCCATGGGGGTGATTTAAATGTTTCAGGATTTCAGAGATACAGTGTGTGTTTATGCCCTGAATACACTAAAAACAGGTGACAACCTTAGCATAACCAACTACCCAATTACATGAACAGCAAAGGATGGGAGGCAGGAATTGCTGATGTCAATGTTCATATGTCAGTGTCAAGCAGAAGAGATAGTAATATTAATTAACGAAGTAAGTTGACAGCTCTAGGCAACACACAATTCACACAGCTACTTTTCCAGAGGAGAAACCAGAATTAGTGACTGCCCTAGCTCCCTGTGGTTGATAATTAGGCTTCCTCGGTCCTACCATTCATCCATTAATGTAGACTTTTCCAAGTATCCAAATTTCACCCCAATTTCCATATCCTTCATTTTCTTTCTTTTTTTATAACAATCACCCCCTACCTTTTCTTTGTTTTGTGCTCTATAATATTTTCCCCAACCCCAACATACTTTAAAAGTCTGTGAAAGGTCAGTTTCTTAGCACAGGTCACTCCTTGCTCCCCCACCTGAAAGATTCCTTTCAGGACCTGTCTTCCCCCACTGGTCCTTCCCTCCTCTTTAGCTACTGGCCTCTTTATTGATGCTTCAAATTAATTTTCTATCAGTGTTAGAGTCCAGTCTTTTCCATCGCACCAAGGAGTTTAATATTCATGCTATAAAACTAAGTTGAAAATGAACGCTTGATTAAAACCAAGGTAATCCCATCTTCCAATTCCGATTTAATGCTCCATACACTTTCATGATGGAGAGGTGTTGATTTCTCAAGTGGTAAATCACGGGGGGAAACCTTTTTAGAATGTACGGGAATTATTTCTTCACTTGGAAGTGAATCTTATCTGGCTCTTCTTTACAAACGCTTTCCAGGCCAGCTGTTTTCAAAATGTCTTGAGAGGGAAGTTGTTCTAGAATAACTAAGGTGTGAATTCCAGGTCGGCATGCCTGAGCTATATGACAGTGACTGGGTCAAATGATTTCATCTGTCTGAGCCCCAATCTCCTCAAAATTAAGTTGAGGTCTCTTTGCCCATTGGGATAACACTACCTACTTCATACTTTTGTTTGTTTTTGTGAAAAGTAAATGAAATGATGTTTGTAAGAGGATGGTGCTGTGTCTGGCCAGTAGTCAGTATTGAGCGCATGTAAAAAAGAAGAAACACTAAACTTCTCTTTGTAATAAATTAATTCCAGATACATGTTTTTGGAGACTGACTATGAGGGGAGGTCCACAGGCTCTTTGACTAGGGGAGAAGGTCCATTATTGTTGCTTCTCCAGGTTCACTTGAGATAAAAACAAGTAGAGAAGGCTTCAGTTTCACAGAGGGTCCAGCAATGCAGTGAATCTTGAATGTTGAAACAGTAAGAGTTCTGAACAGCTTATCTAACAGATTCAGTGTGGCAGAGCTAAGGGGGGAATTCCATGCATGCTCAGGGCTGCTTCTTCAAAATCTAGATTTATCTCATTGTCCTTCCCTCCATGGGAGAACTGTGCTTCCCTCCATCGGAAAACATTTAAGAACTAACTAGCAATCTCAGGCAGGTATCACCAGCCCCTTTGTCAGCTTCTCTGCAGTAACAGAAAGGAATACAATTCTGTGATCTTCCAGAGCTCAGAGCTCAACTACAAAGTCAGGTCAGCCCCTGGTTTCGCAAATTCTCATTTCTTAACCGTCGCCTCCCTGTTTCTTGCAGTGTTGCCTTGGCAGAGCAGGCCATACCACTGACACGTCTGATTCCTTACCCTAACTCACCTTTTTCAGCTTTATCACCCCCTCCTGTGTTTCATAGTCCGTTGTGATTTCAAACGATTCCATACCATCTCCATCAACAATATTGTATGTGACTAAGCCATTTTCTCCAATGTCTGGATCTTTAGCTTTCACTCTTCCTACTTCCTCCCCAGGGACGGCTGCTTGTGACACAGACATCTGGTATACGCCTAGAAGAAGAAGACATCTATTTTTATTTTCTCTTTTATTTGGCAGCTGTAAGACTATAGATTTCATTGAATCCCAATAAATTTCTCAAAGGATTTGAAATTGAACTTTCTATTGACTGAAAACATGAAAGAAGTGAGTGGATGTGGGGAGGAGGATCCCACATGGCCTGCTTGTCAAAAGAATGTGTTCTACGAAGGGTGATAAAACAATATCTGGGTCCAGGTGAAATGCTGGGGTCACCTGCCACATGTAAGGGAGAAAAACAATGCTCTGTTACATTTCCCATCAGGTAATGATGGAGAACCATGCATGTCTTCATTTAGCAAAATAGCTGAAGCTTCTTTTCATGTCTTCAGGATGGTCCATGAGTTAACTCCAAGGCTCACTTATGGTATTGCGAAGAGCCCAGAAAAAAAAAATTCTCTGTTTAAAAGCCTTCCTTCAACAGCTCCATAGTTACTTTAAAAATGCAAACTTTAACATCCCTCCCTGTCTAACTCTATATTCGACACTCCCCTTATTTCACCTCCTTCGCAACTTGCCTGCTTCACAAGTTGGTCATGCGTTACCTTCTCCAGAAGGCTTTCCTGCAGTGTGACCCTCCTATATATTTATTTAATGTTTATTGGGAGCCTAATACTGTACATGGAGGTACTGTCCTAGTGCCAGGACACTGTTTTGTTTGCTTGTTTTGTTTACTACTAAACAAAACAGTCAAGATTCCTCTCTTAATGAGGCCGACTAAAGAGAAAAAATAAAAACAAATGTAAACACACTCTGATGTCACTGCAATGAAAAAGGAAAATAAAGTAGGGTAAAAGGGTGAGGGTTCTGAGAGTGGGTGTGTGGTTGTGGGTGTGTAAGTGCATGATTGTGTGTGAGGGTGAGGGGGTAAATGTGTGAGTGGCCATGAGTGATTGTGTGGGCATGAATCTGTTGTGTAAGAGTGTGAGTGTGTGTATGAATGTGAGCTATTTGTGAGTGAGTTTGTGTATGTGTATGAGTGTGATTGAACACGCATGCTTGTGTTAATAATGTGTGGGTGATAAGCAGAAAGAGGGAGAGATTGGTTTTGCGTAGTGTGGTAGGAGAAGACATTCTTTAGAAAAAGGAATCTAAAATGACTGAGGAAGACAATGACGTGCATATCTGCAGGATAAAAACTACCAGCCAGGTGATTAGCAAATGGCAAAAACCCTAAGGTGAGAAGATCCTGAATACTTGCAGAGGAGCAAGAGGAGGAGAGTGACTACAGCCTTCTGGTGAGAGAGAAGGGCTGTAAGGAAGTGGAGGCCAAATTGCGTAAAATAGACCATTGTGGGGAATGGAAAAGACTTCAGGTTTTGTTTAAACTTGGGGAAATCACTGGAAGGTTTGCACTAAGTAGCTAAGATTCAACATTATCTTATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTATGTGGATTTTGTCCAAATCTCATTCAAGTTCACGGCAGTGAAACCAGTAAAACCAGTACAGTAGCAATGTAACTTTACTATATGATTGTCTATGACCAAGGGCAGTAAAGGCTGCCTGCTAATAATTCTGCTTGACCTTTCTTTTCCAGCTCACCAGACAATCGTACAGTGTGGATAATGGAGCATGCAGCTCTTTGAATGTTATATGAGCCTCAGGCTTATTGAGGATGCTGAACTTGTGCCCGGCCAGGCAAAAGAGTCTTGTGTAGATTCTTGCTTTTGAATTCCTTTGAGTA
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Task1_train_22773
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A variant found in Chromosome 16 affects CDH11 (cadherin 11). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Teebi hypertelorism syndrome 2
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TTATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTATGTGGATTTTGTCCAAATCTCATTCAAGTTCACGGCAGTGAAACCAGTAAAACCAGTACAGTAGCAATGTAACTTTACTATATGATTGTCTATGACCAAGGGCAGTAAAGGCTGCCTGCTAATAATTCTGCTTGACCTTTCTTTTCCAGCTCACCAGACAATCGTACAGTGTGGATAATGGAGCATGCAGCTCTTTGAATGTTATATGAGCCTCAGGCTTATTGAGGATGCTGAACTTGTGCCCGGCCAGGCAAAAGAGTCTTGTGTAGATTCTTGCTTTTGAATTCCTTTGAGTAACCACAGTGCCTTCCTGGGGCCACATTTAGTAGCCTTCCTTGTTATCTCATTTGCAAAATGTTCCATTTCTCTGATAGTAAGCTCACAGGCTCTAACTGAAAAAGACACTTTCATGATGAACCCCCCCATGCATTAGCAGCACCAGCAGCACCACAGTCATACTGTCCATTCATACACATCTGTACATACATAGACAGACTTGTGTTCAAACTCTGACTTTGCCACATTTCTAGGGCAACTTATGCACTTTTTACGGAAACCAGTTTTATCTGTAAAATGTAGGCTCCTGCAGAGATTTACAATAGTAGTGACTATTCATTAAATGATGGTAGTTGCTATAATTACAATTATTAATAATAACCTTTCAAAATCATTGTTTTTCATTTAATTCCCTCTGCAATTTTATAAATTTTGTAGAACAGCCATAATCCCCCAGATAACAATGGCTAGAATTTGTTGACGACTTATAGACAGTTGTCATTATAAGATTTTACACTAGCTCCTTTAGTTCAAACAGTAATCCTATTAATTAGGTACTGTGGAAGACTGTATTTTCCAAAACATGGCCAAAACAATATCTCCCATCCCACATGCTTTTCCTTCAACATGACTTTGACAGGTCTTCCATTGAAAGGTGGGGTCTACATGAACTCCCCTTAGATTTGTGAGCCTTATGACTCCAGTGGAAACATTTGGTGGCTTATGACTCCAGTTTCCAGTGGAAACTTCTGAAGCTAGTTAACAAAAGGCAAGACAATTTCTGCCTGGTGCCCTTGGGGATCACACTTTCCAAAACCAGCCCACGCAGAAAGGAAGCAGCAATCAACACAAACTTGCCAGCCATGCAAGTAAGCTGGTTTGGAAGTGGATCCTCCAACCCCAGTGGAGCTATCCCCAGTTGTTGCTATGGAGAACAGAGGCATGCTGTCTCCTCCAAGCCTTGCCCAAATTCCAGACACATGATAAAAACAAATTATTGTTATTATTTTTATTGTTTTAAACCACTAAGTTTTCCAGCAATTTGTTACACAGTAATTGATAACTGATTCAGGGACTGTTATATCCAGGTTAGAAATGAGGACACTGAGGCAGAAAAGGGTTAATTAATTACTAGATTGCATCACTACTACCAAGCAAAATACTTAGCAAAAACGATATTTTGTTTCCAGGGTTGTAGAACTTTTTACATCTTTTCATTCTCCTACTACCTCTACTCCCCGACATTGTTGTTGTTGTTGTTGTCTTGTTTTTGTGTTTTGTTTTTGTAAGAATGATATGAATTGCCCTTAGTTTTCTAGATTTTCTTTTTGATACCTCAGTAAAGCAGGAATAGGTTAGAGGAGGGAGAGAGCTGGCTGTGTCACCATGGAAAAGTGAAAGCCAAGTCCACCTACTTACTCTGCGGAAACTTTGGTGGGTTGTCATTGACATCGGTCAGTGTGATCGTCACTTTGGTTGTCCCTGAGAGTCCGCCCATATGTCCACCCATGTCCTTGGCCTGGATCACCACGTGGTACTCCTCCTTGGCCTCCCTGTCCATGTTGGGTAGGGCTGTTCTGATGATACCTGGACAGGTAAGCAGGCAACATCACAGATATTCGTTTATAACATTATGACAACAAGAAAGTTCTGAGCACTGAGGAAGCAATGCTGAATAAAATATCCCATGCCCTCAGCAAGAATCATTTCAACATGGTAATTACAACCAAAGGCAGCCATACTGAAGCATCATTATGTCTTTTCAAGCAAATCATAAAAATTACTATACAGCATTTGTATTTATGTTTTGTTGTACATTCAAGTAATAACCCTATTCTTCTCAGATATAAACACCCTAAAGACTGAAATACTTGAGTGGTCATTGCATGAATATCCATGACTAAACTCATACTTTTTGACTTCCAGCACAATCTTCTGTAAGTCTATTGCTACATACAATTCATGGAAATGTTTTGATGGTGCATATTAAGTTTAAAGCAGGAGGTGCATATTTCATGCAATACATTAAAGTGTAAATATTAATTTTTAAAAGAGTGAACCAAATCGGTTAAAATATATACAATGCTCATATAAGCACATACTGTCTATTATCACCTGTCACGGAAAACAATGATAAATTAATAACTGAATTCTGCATGATTGCTGGATATTGGCACATGAGTGCCATGCTCACTTAAATCTTTAGGAGACCTTTGGAAGCTTTTTCTCTCTGTAGATATGGCAACAGTTATGTGAGGAATATAGAGAGCACTGTGGAAGACTTAGTCCTTATTGCTCTCTTACTTCTGATATTAAAGTTGAGTTTTTAGATTATAGTTGTTATTGGGTCATCGTGAAATATGGGAAAACCAACAATAAATGTTTCATGGTGTACTAACTGTGTGATAGGCACAGGCCAAGTATCTAATCCTCACACTAACCCTATAGGGTAGCCCTCTGTATTCCTTTTTCATATTTGAGAAAACAGAGTATTAAATAAGTTCTGGTCAGGCCTGGGACTTCTTATTCACCATGTGTCACAAATCACAGTGACATTCCACAGTACCTGTCTGTGCTTCCACCGAAAAATAGGGTTGTCCTTCGAGGATACTGTACACTAACTTGGCGCTATTTCCATAAGTGGGGTCATCTGCATCTGAAGCTGTCACCTGGATTACTGACGTTCCTTAAAAGTGAAATAAATTAATTAGCAACATCTCCTCAGATTTTCAAATTATGTTCTTGTTTACAAAGTTTTATTCTAAAATTAACCCTGAAGAAGGCACCACAATTATTCAACATTCTCTCATTTTCCTGGAGTTGAGATGCAAAATAACCAGCCAACCAACCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTGCTCTATAAAAATGGCCACAGTTTAAAAATGAACTTTCTGTATTTATAGTACATCCTACATTGGTTGGTGATTAAAATAATATTATAAATATTATTGCAAAAATATCTTACAACTCATGCACTTGAAATGTTCAGTATATCAAATAATTACATTAAAATCTTCCCAGAGTATAATAAATGATAATTAACGATAAATTGCTTTCAGGAAAGGACAGAGTGCAATCTTCCATCTGTAGCAGAACAATAAATACATCATTTTATTGTTGCTTTGCATGTAATAAAATTGCTGCTAATTCTACAATTTAATTAATTTATGGCCATAAATACTGAGCAGAATGCTGTTCCCTACTGGCATGAAAATTGCATCTTCCCACCTGTAGCTGGTCTGGTAGCCATATAACAGAAATCACCAGTAAACATCTGGTGAGAGGTAAGGGAAGCATTCATGGGTCAGAACGAAGGGAAACCAGGAAATTGAAGAAAGATGGGGTTCTGCTTTTCCTAAAAACAACCTTTGTTCCTGGCTGGTCACAAATAGCAAGTATCTGGGGCATGGCATGTTGGGCTTCAGAGTGGGGAGAGAGGAGCTGGAAGAAGAAAACCAGTAATTA
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TTATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTATGTGGATTTTGTCCAAATCTCATTCAAGTTCACGGCAGTGAAACCAGTAAAACCAGTACAGTAGCAATGTAACTTTACTATATGATTGTCTATGACCAAGGGCAGTAAAGGCTGCCTGCTAATAATTCTGCTTGACCTTTCTTTTCCAGCTCACCAGACAATCGTACAGTGTGGATAATGGAGCATGCAGCTCTTTGAATGTTATATGAGCCTCAGGCTTATTGAGGATGCTGAACTTGTGCCCGGCCAGGCAAAAGAGTCTTGTGTAGATTCTTGCTTTTGAATTCCTTTGAGTAACCACAGTGCCTTCCTGGGGCCACATTTAGTAGCCTTCCTTGTTATCTCATTTGCAAAATGTTCCATTTCTCTGATAGTAAGCTCACAGGCTCTAACTGAAAAAGACACTTTCATGATGAACCCCCCCATGCATTAGCAGCACCAGCAGCACCACAGTCATACTGTCCATTCATACACATCTGTACATACATAGACAGACTTGTGTTCAAACTCTGACTTTGCCACATTTCTAGGGCAACTTATGCACTTTTTACGGAAACCAGTTTTATCTGTAAAATGTAGGCTCCTGCAGAGATTTACAATAGTAGTGACTATTCATTAAATGATGGTAGTTGCTATAATTACAATTATTAATAATAACCTTTCAAAATCATTGTTTTTCATTTAATTCCCTCTGCAATTTTATAAATTTTGTAGAACAGCCATAATCCCCCAGATAACAATGGCTAGAATTTGTTGACGACTTATAGACAGTTGTCATTATAAGATTTTACACTAGCTCCTTTAGTTCAAACAGTAATCCTATTAATTAGGTACTGTGGAAGACTGTATTTTCCAAAACATGGCCAAAACAATATCTCCCATCCCACATGCTTTTCCTTCAACATGACTTTGACAGGTCTTCCATTGAAAGGTGGGGTCTACATGAACTCCCCTTAGATTTGTGAGCCTTATGACTCCAGTGGAAACATTTGGTGGCTTATGACTCCAGTTTCCAGTGGAAACTTCTGAAGCTAGTTAACAAAAGGCAAGACAATTTCTGCCTGGTGCCCTTGGGGATCACACTTTCCAAAACCAGCCCACGCAGAAAGGAAGCAGCAATCAACACAAACTTGCCAGCCATGCAAGTAAGCTGGTTTGGAAGTGGATCCTCCAACCCCAGTGGAGCTATCCCCAGTTGTTGCTATGGAGAACAGAGGCATGCTGTCTCCTCCAAGCCTTGCCCAAATTCCAGACACATGATAAAAACAAATTATTGTTATTATTTTTATTGTTTTAAACCACTAAGTTTTCCAGCAATTTGTTACACAGTAATTGATAACTGATTCAGGGACTGTTATATCCAGGTTAGAAATGAGGACACTGAGGCAGAAAAGGGTTAATTAATTACTAGATTGCATCACTACTACCAAGCAAAATACTTAGCAAAAACGATATTTTGTTTCCAGGGTTGTAGAACTTTTTACATCTTTTCATTCTCCTACTACCTCTACTCCCCGACATTGTTGTTGTTGTTGTTGTCTTGTTTTTGTGTTTTGTTTTTGTAAGAATGATATGAATTGCCCTTAGTTTTCTAGATTTTCTTTTTGATACCTCAGTAAAGCAGGAATAGGTTAGAGGAGGGAGAGAGCTGGCTGTGTCACCATGGAAAAGTGAAAGCCAAGTCCACCTACTTACTCTGCGGAAACTTTGGTGGGTTGTCATTGACTTCGGTCAGTGTGATCGTCACTTTGGTTGTCCCTGAGAGTCCGCCCATATGTCCACCCATGTCCTTGGCCTGGATCACCACGTGGTACTCCTCCTTGGCCTCCCTGTCCATGTTGGGTAGGGCTGTTCTGATGATACCTGGACAGGTAAGCAGGCAACATCACAGATATTCGTTTATAACATTATGACAACAAGAAAGTTCTGAGCACTGAGGAAGCAATGCTGAATAAAATATCCCATGCCCTCAGCAAGAATCATTTCAACATGGTAATTACAACCAAAGGCAGCCATACTGAAGCATCATTATGTCTTTTCAAGCAAATCATAAAAATTACTATACAGCATTTGTATTTATGTTTTGTTGTACATTCAAGTAATAACCCTATTCTTCTCAGATATAAACACCCTAAAGACTGAAATACTTGAGTGGTCATTGCATGAATATCCATGACTAAACTCATACTTTTTGACTTCCAGCACAATCTTCTGTAAGTCTATTGCTACATACAATTCATGGAAATGTTTTGATGGTGCATATTAAGTTTAAAGCAGGAGGTGCATATTTCATGCAATACATTAAAGTGTAAATATTAATTTTTAAAAGAGTGAACCAAATCGGTTAAAATATATACAATGCTCATATAAGCACATACTGTCTATTATCACCTGTCACGGAAAACAATGATAAATTAATAACTGAATTCTGCATGATTGCTGGATATTGGCACATGAGTGCCATGCTCACTTAAATCTTTAGGAGACCTTTGGAAGCTTTTTCTCTCTGTAGATATGGCAACAGTTATGTGAGGAATATAGAGAGCACTGTGGAAGACTTAGTCCTTATTGCTCTCTTACTTCTGATATTAAAGTTGAGTTTTTAGATTATAGTTGTTATTGGGTCATCGTGAAATATGGGAAAACCAACAATAAATGTTTCATGGTGTACTAACTGTGTGATAGGCACAGGCCAAGTATCTAATCCTCACACTAACCCTATAGGGTAGCCCTCTGTATTCCTTTTTCATATTTGAGAAAACAGAGTATTAAATAAGTTCTGGTCAGGCCTGGGACTTCTTATTCACCATGTGTCACAAATCACAGTGACATTCCACAGTACCTGTCTGTGCTTCCACCGAAAAATAGGGTTGTCCTTCGAGGATACTGTACACTAACTTGGCGCTATTTCCATAAGTGGGGTCATCTGCATCTGAAGCTGTCACCTGGATTACTGACGTTCCTTAAAAGTGAAATAAATTAATTAGCAACATCTCCTCAGATTTTCAAATTATGTTCTTGTTTACAAAGTTTTATTCTAAAATTAACCCTGAAGAAGGCACCACAATTATTCAACATTCTCTCATTTTCCTGGAGTTGAGATGCAAAATAACCAGCCAACCAACCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTGCTCTATAAAAATGGCCACAGTTTAAAAATGAACTTTCTGTATTTATAGTACATCCTACATTGGTTGGTGATTAAAATAATATTATAAATATTATTGCAAAAATATCTTACAACTCATGCACTTGAAATGTTCAGTATATCAAATAATTACATTAAAATCTTCCCAGAGTATAATAAATGATAATTAACGATAAATTGCTTTCAGGAAAGGACAGAGTGCAATCTTCCATCTGTAGCAGAACAATAAATACATCATTTTATTGTTGCTTTGCATGTAATAAAATTGCTGCTAATTCTACAATTTAATTAATTTATGGCCATAAATACTGAGCAGAATGCTGTTCCCTACTGGCATGAAAATTGCATCTTCCCACCTGTAGCTGGTCTGGTAGCCATATAACAGAAATCACCAGTAAACATCTGGTGAGAGGTAAGGGAAGCATTCATGGGTCAGAACGAAGGGAAACCAGGAAATTGAAGAAAGATGGGGTTCTGCTTTTCCTAAAAACAACCTTTGTTCCTGGCTGGTCACAAATAGCAAGTATCTGGGGCATGGCATGTTGGGCTTCAGAGTGGGGAGAGAGGAGCTGGAAGAAGAAAACCAGTAATTA
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Task1_train_22774
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A variant affecting Chromosome 16, within the gene CDH11 (cadherin 11), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Elsahy-Waters syndrome
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ATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTATGTGGATTTTGTCCAAATCTCATTCAAGTTCACGGCAGTGAAACCAGTAAAACCAGTACAGTAGCAATGTAACTTTACTATATGATTGTCTATGACCAAGGGCAGTAAAGGCTGCCTGCTAATAATTCTGCTTGACCTTTCTTTTCCAGCTCACCAGACAATCGTACAGTGTGGATAATGGAGCATGCAGCTCTTTGAATGTTATATGAGCCTCAGGCTTATTGAGGATGCTGAACTTGTGCCCGGCCAGGCAAAAGAGTCTTGTGTAGATTCTTGCTTTTGAATTCCTTTGAGTAACCACAGTGCCTTCCTGGGGCCACATTTAGTAGCCTTCCTTGTTATCTCATTTGCAAAATGTTCCATTTCTCTGATAGTAAGCTCACAGGCTCTAACTGAAAAAGACACTTTCATGATGAACCCCCCCATGCATTAGCAGCACCAGCAGCACCACAGTCATACTGTCCATTCATACACATCTGTACATACATAGACAGACTTGTGTTCAAACTCTGACTTTGCCACATTTCTAGGGCAACTTATGCACTTTTTACGGAAACCAGTTTTATCTGTAAAATGTAGGCTCCTGCAGAGATTTACAATAGTAGTGACTATTCATTAAATGATGGTAGTTGCTATAATTACAATTATTAATAATAACCTTTCAAAATCATTGTTTTTCATTTAATTCCCTCTGCAATTTTATAAATTTTGTAGAACAGCCATAATCCCCCAGATAACAATGGCTAGAATTTGTTGACGACTTATAGACAGTTGTCATTATAAGATTTTACACTAGCTCCTTTAGTTCAAACAGTAATCCTATTAATTAGGTACTGTGGAAGACTGTATTTTCCAAAACATGGCCAAAACAATATCTCCCATCCCACATGCTTTTCCTTCAACATGACTTTGACAGGTCTTCCATTGAAAGGTGGGGTCTACATGAACTCCCCTTAGATTTGTGAGCCTTATGACTCCAGTGGAAACATTTGGTGGCTTATGACTCCAGTTTCCAGTGGAAACTTCTGAAGCTAGTTAACAAAAGGCAAGACAATTTCTGCCTGGTGCCCTTGGGGATCACACTTTCCAAAACCAGCCCACGCAGAAAGGAAGCAGCAATCAACACAAACTTGCCAGCCATGCAAGTAAGCTGGTTTGGAAGTGGATCCTCCAACCCCAGTGGAGCTATCCCCAGTTGTTGCTATGGAGAACAGAGGCATGCTGTCTCCTCCAAGCCTTGCCCAAATTCCAGACACATGATAAAAACAAATTATTGTTATTATTTTTATTGTTTTAAACCACTAAGTTTTCCAGCAATTTGTTACACAGTAATTGATAACTGATTCAGGGACTGTTATATCCAGGTTAGAAATGAGGACACTGAGGCAGAAAAGGGTTAATTAATTACTAGATTGCATCACTACTACCAAGCAAAATACTTAGCAAAAACGATATTTTGTTTCCAGGGTTGTAGAACTTTTTACATCTTTTCATTCTCCTACTACCTCTACTCCCCGACATTGTTGTTGTTGTTGTTGTCTTGTTTTTGTGTTTTGTTTTTGTAAGAATGATATGAATTGCCCTTAGTTTTCTAGATTTTCTTTTTGATACCTCAGTAAAGCAGGAATAGGTTAGAGGAGGGAGAGAGCTGGCTGTGTCACCATGGAAAAGTGAAAGCCAAGTCCACCTACTTACTCTGCGGAAACTTTGGTGGGTTGTCATTGACATCGGTCAGTGTGATCGTCACTTTGGTTGTCCCTGAGAGTCCGCCCATATGTCCACCCATGTCCTTGGCCTGGATCACCACGTGGTACTCCTCCTTGGCCTCCCTGTCCATGTTGGGTAGGGCTGTTCTGATGATACCTGGACAGGTAAGCAGGCAACATCACAGATATTCGTTTATAACATTATGACAACAAGAAAGTTCTGAGCACTGAGGAAGCAATGCTGAATAAAATATCCCATGCCCTCAGCAAGAATCATTTCAACATGGTAATTACAACCAAAGGCAGCCATACTGAAGCATCATTATGTCTTTTCAAGCAAATCATAAAAATTACTATACAGCATTTGTATTTATGTTTTGTTGTACATTCAAGTAATAACCCTATTCTTCTCAGATATAAACACCCTAAAGACTGAAATACTTGAGTGGTCATTGCATGAATATCCATGACTAAACTCATACTTTTTGACTTCCAGCACAATCTTCTGTAAGTCTATTGCTACATACAATTCATGGAAATGTTTTGATGGTGCATATTAAGTTTAAAGCAGGAGGTGCATATTTCATGCAATACATTAAAGTGTAAATATTAATTTTTAAAAGAGTGAACCAAATCGGTTAAAATATATACAATGCTCATATAAGCACATACTGTCTATTATCACCTGTCACGGAAAACAATGATAAATTAATAACTGAATTCTGCATGATTGCTGGATATTGGCACATGAGTGCCATGCTCACTTAAATCTTTAGGAGACCTTTGGAAGCTTTTTCTCTCTGTAGATATGGCAACAGTTATGTGAGGAATATAGAGAGCACTGTGGAAGACTTAGTCCTTATTGCTCTCTTACTTCTGATATTAAAGTTGAGTTTTTAGATTATAGTTGTTATTGGGTCATCGTGAAATATGGGAAAACCAACAATAAATGTTTCATGGTGTACTAACTGTGTGATAGGCACAGGCCAAGTATCTAATCCTCACACTAACCCTATAGGGTAGCCCTCTGTATTCCTTTTTCATATTTGAGAAAACAGAGTATTAAATAAGTTCTGGTCAGGCCTGGGACTTCTTATTCACCATGTGTCACAAATCACAGTGACATTCCACAGTACCTGTCTGTGCTTCCACCGAAAAATAGGGTTGTCCTTCGAGGATACTGTACACTAACTTGGCGCTATTTCCATAAGTGGGGTCATCTGCATCTGAAGCTGTCACCTGGATTACTGACGTTCCTTAAAAGTGAAATAAATTAATTAGCAACATCTCCTCAGATTTTCAAATTATGTTCTTGTTTACAAAGTTTTATTCTAAAATTAACCCTGAAGAAGGCACCACAATTATTCAACATTCTCTCATTTTCCTGGAGTTGAGATGCAAAATAACCAGCCAACCAACCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTGCTCTATAAAAATGGCCACAGTTTAAAAATGAACTTTCTGTATTTATAGTACATCCTACATTGGTTGGTGATTAAAATAATATTATAAATATTATTGCAAAAATATCTTACAACTCATGCACTTGAAATGTTCAGTATATCAAATAATTACATTAAAATCTTCCCAGAGTATAATAAATGATAATTAACGATAAATTGCTTTCAGGAAAGGACAGAGTGCAATCTTCCATCTGTAGCAGAACAATAAATACATCATTTTATTGTTGCTTTGCATGTAATAAAATTGCTGCTAATTCTACAATTTAATTAATTTATGGCCATAAATACTGAGCAGAATGCTGTTCCCTACTGGCATGAAAATTGCATCTTCCCACCTGTAGCTGGTCTGGTAGCCATATAACAGAAATCACCAGTAAACATCTGGTGAGAGGTAAGGGAAGCATTCATGGGTCAGAACGAAGGGAAACCAGGAAATTGAAGAAAGATGGGGTTCTGCTTTTCCTAAAAACAACCTTTGTTCCTGGCTGGTCACAAATAGCAAGTATCTGGGGCATGGCATGTTGGGCTTCAGAGTGGGGAGAGAGGAGCTGGAAGAAGAAAACCAGTAATTATC
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ATTTGCTTTTCACATTTAATACTCTGTGCAACACACAATATAGGGAAGCCAGGGTTGAAAATCTTTCCTCTATCATTTCCAAGCAAAGTGGTCTTGGGCAAGTTACTTCAGCTCATTATGTTTTAATTTCCCCTTACAGAGATTTCATCAGTTCTAATACTTTGTCTATATTTATCAATAGTATTTTGCTTTGCAACTTTCTTTTGGATTCATAATCTATTTAATCTCACCATGCCCTCTATATTAAAGGATGAGTGGGAAGTGGGAGTCCCTTGTAGATAATTACCAATTAATGTGAAGGTTTAAAAAAAAATGTCCTATGTGGATTTTGTCCAAATCTCATTCAAGTTCACGGCAGTGAAACCAGTAAAACCAGTACAGTAGCAATGTAACTTTACTATATGATTGTCTATGACCAAGGGCAGTAAAGGCTGCCTGCTAATAATTCTGCTTGACCTTTCTTTTCCAGCTCACCAGACAATCGTACAGTGTGGATAATGGAGCATGCAGCTCTTTGAATGTTATATGAGCCTCAGGCTTATTGAGGATGCTGAACTTGTGCCCGGCCAGGCAAAAGAGTCTTGTGTAGATTCTTGCTTTTGAATTCCTTTGAGTAACCACAGTGCCTTCCTGGGGCCACATTTAGTAGCCTTCCTTGTTATCTCATTTGCAAAATGTTCCATTTCTCTGATAGTAAGCTCACAGGCTCTAACTGAAAAAGACACTTTCATGATGAACCCCCCCATGCATTAGCAGCACCAGCAGCACCACAGTCATACTGTCCATTCATACACATCTGTACATACATAGACAGACTTGTGTTCAAACTCTGACTTTGCCACATTTCTAGGGCAACTTATGCACTTTTTACGGAAACCAGTTTTATCTGTAAAATGTAGGCTCCTGCAGAGATTTACAATAGTAGTGACTATTCATTAAATGATGGTAGTTGCTATAATTACAATTATTAATAATAACCTTTCAAAATCATTGTTTTTCATTTAATTCCCTCTGCAATTTTATAAATTTTGTAGAACAGCCATAATCCCCCAGATAACAATGGCTAGAATTTGTTGACGACTTATAGACAGTTGTCATTATAAGATTTTACACTAGCTCCTTTAGTTCAAACAGTAATCCTATTAATTAGGTACTGTGGAAGACTGTATTTTCCAAAACATGGCCAAAACAATATCTCCCATCCCACATGCTTTTCCTTCAACATGACTTTGACAGGTCTTCCATTGAAAGGTGGGGTCTACATGAACTCCCCTTAGATTTGTGAGCCTTATGACTCCAGTGGAAACATTTGGTGGCTTATGACTCCAGTTTCCAGTGGAAACTTCTGAAGCTAGTTAACAAAAGGCAAGACAATTTCTGCCTGGTGCCCTTGGGGATCACACTTTCCAAAACCAGCCCACGCAGAAAGGAAGCAGCAATCAACACAAACTTGCCAGCCATGCAAGTAAGCTGGTTTGGAAGTGGATCCTCCAACCCCAGTGGAGCTATCCCCAGTTGTTGCTATGGAGAACAGAGGCATGCTGTCTCCTCCAAGCCTTGCCCAAATTCCAGACACATGATAAAAACAAATTATTGTTATTATTTTTATTGTTTTAAACCACTAAGTTTTCCAGCAATTTGTTACACAGTAATTGATAACTGATTCAGGGACTGTTATATCCAGGTTAGAAATGAGGACACTGAGGCAGAAAAGGGTTAATTAATTACTAGATTGCATCACTACTACCAAGCAAAATACTTAGCAAAAACGATATTTTGTTTCCAGGGTTGTAGAACTTTTTACATCTTTTCATTCTCCTACTACCTCTACTCCCCGACATTGTTGTTGTTGTTGTTGTCTTGTTTTTGTGTTTTGTTTTTGTAAGAATGATATGAATTGCCCTTAGTTTTCTAGATTTTCTTTTTGATACCTCAGTAAAGCAGGAATAGGTTAGAGGAGGGAGAGAGCTGGCTGTGTCACCATGGAAAAGTGAAAGCCAAGTCCACCTACTTACTCTGCGGAAACTTTGGTGGGTTGTCATTGACATTGGTCAGTGTGATCGTCACTTTGGTTGTCCCTGAGAGTCCGCCCATATGTCCACCCATGTCCTTGGCCTGGATCACCACGTGGTACTCCTCCTTGGCCTCCCTGTCCATGTTGGGTAGGGCTGTTCTGATGATACCTGGACAGGTAAGCAGGCAACATCACAGATATTCGTTTATAACATTATGACAACAAGAAAGTTCTGAGCACTGAGGAAGCAATGCTGAATAAAATATCCCATGCCCTCAGCAAGAATCATTTCAACATGGTAATTACAACCAAAGGCAGCCATACTGAAGCATCATTATGTCTTTTCAAGCAAATCATAAAAATTACTATACAGCATTTGTATTTATGTTTTGTTGTACATTCAAGTAATAACCCTATTCTTCTCAGATATAAACACCCTAAAGACTGAAATACTTGAGTGGTCATTGCATGAATATCCATGACTAAACTCATACTTTTTGACTTCCAGCACAATCTTCTGTAAGTCTATTGCTACATACAATTCATGGAAATGTTTTGATGGTGCATATTAAGTTTAAAGCAGGAGGTGCATATTTCATGCAATACATTAAAGTGTAAATATTAATTTTTAAAAGAGTGAACCAAATCGGTTAAAATATATACAATGCTCATATAAGCACATACTGTCTATTATCACCTGTCACGGAAAACAATGATAAATTAATAACTGAATTCTGCATGATTGCTGGATATTGGCACATGAGTGCCATGCTCACTTAAATCTTTAGGAGACCTTTGGAAGCTTTTTCTCTCTGTAGATATGGCAACAGTTATGTGAGGAATATAGAGAGCACTGTGGAAGACTTAGTCCTTATTGCTCTCTTACTTCTGATATTAAAGTTGAGTTTTTAGATTATAGTTGTTATTGGGTCATCGTGAAATATGGGAAAACCAACAATAAATGTTTCATGGTGTACTAACTGTGTGATAGGCACAGGCCAAGTATCTAATCCTCACACTAACCCTATAGGGTAGCCCTCTGTATTCCTTTTTCATATTTGAGAAAACAGAGTATTAAATAAGTTCTGGTCAGGCCTGGGACTTCTTATTCACCATGTGTCACAAATCACAGTGACATTCCACAGTACCTGTCTGTGCTTCCACCGAAAAATAGGGTTGTCCTTCGAGGATACTGTACACTAACTTGGCGCTATTTCCATAAGTGGGGTCATCTGCATCTGAAGCTGTCACCTGGATTACTGACGTTCCTTAAAAGTGAAATAAATTAATTAGCAACATCTCCTCAGATTTTCAAATTATGTTCTTGTTTACAAAGTTTTATTCTAAAATTAACCCTGAAGAAGGCACCACAATTATTCAACATTCTCTCATTTTCCTGGAGTTGAGATGCAAAATAACCAGCCAACCAACCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTGCTCTATAAAAATGGCCACAGTTTAAAAATGAACTTTCTGTATTTATAGTACATCCTACATTGGTTGGTGATTAAAATAATATTATAAATATTATTGCAAAAATATCTTACAACTCATGCACTTGAAATGTTCAGTATATCAAATAATTACATTAAAATCTTCCCAGAGTATAATAAATGATAATTAACGATAAATTGCTTTCAGGAAAGGACAGAGTGCAATCTTCCATCTGTAGCAGAACAATAAATACATCATTTTATTGTTGCTTTGCATGTAATAAAATTGCTGCTAATTCTACAATTTAATTAATTTATGGCCATAAATACTGAGCAGAATGCTGTTCCCTACTGGCATGAAAATTGCATCTTCCCACCTGTAGCTGGTCTGGTAGCCATATAACAGAAATCACCAGTAAACATCTGGTGAGAGGTAAGGGAAGCATTCATGGGTCAGAACGAAGGGAAACCAGGAAATTGAAGAAAGATGGGGTTCTGCTTTTCCTAAAAACAACCTTTGTTCCTGGCTGGTCACAAATAGCAAGTATCTGGGGCATGGCATGTTGGGCTTCAGAGTGGGGAGAGAGGAGCTGGAAGAAGAAAACCAGTAATTATC
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Task1_train_22775
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Here’s a variant in CDH11 (cadherin 11) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Teebi hypertelorism syndrome 2
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TATGTCAATTATGTGAACATGAAGTGCTGTTCTCATGTAAAAGAACAATTAAGATAACTTCGTAGAAATCAGTAGGGTTCAGAAACCCCTCAAACCTATTCTCTTTCCCCTTTACCTTCCACTGGATAATTCCTGTTCATCTTTTAGGTTACAGGTTATTCCCATGTTGTCCTTGAAACCTTCCTTTGACATCCCTCCCAAATATTACCATGTAAATTCATAATCATTTACATTGAATGTCCTCATTATTCTATTATTCATTTTCTTTTTTTCTTTTTTTTTTTTTAATTGCTTAGGTAACTGTCTCTTTTCCACTAGACCTCTTTGAGGTTAGGAGCTATCTTAATCTAGTTTACATTTTGCCTAGCACGGCAGCTGCTCCACATGATAGGATTTCAGTTCTTATGTATCTAAGGATCTATCTTTGTTTTTTTTTTTTTTGAGATGGAGGCCTTTGTCTCATAATAATAATTTAAACTTAAATAATAAAAATACTTTAACAAAAATGAGAAAATGGCATTAGTAATAAATAATACTATTAATATTGTTAATATTAACTGGCATTGTTAATAATCATCTTTTTTATTATTTATTTATTTATTTATTCATTCATTTTTTGAGACAGAGTCTCACTCTGTCTCCCAGGCTGGAGTACAGTGGCACATCTTGGCTTACTGCAACAACTCCTTCCCATGTTCAAGCGATTCCCCTGCCTCAGCCTCTGGAGTAGTTGGGATTACAGGCACTCACCACCACGCCTGGCTAATATTTGTGTTGTTAGTAGAGACGGGGTTTCACCATACTGGGCAGGCTGGTCTTGAACTCCTGACATCCCGTGATTCACCTGCCTCAGCCTCCCAGAGAACTAGGATTACAGGTGTGAGCCACTGTGCTGGCCGCACATATCTTTTTGCAGTTTTAATGTCACTATCATCTGAAAGATAACTGTACATTTTACTCAAATGCTAGTGGGTAGGTAATTTTCCAAACTCTCTTGAATTTGTATTTTGGACCCTCTTTCTACACTTGCACTTTTCTGGAAGGGATACACAGAGACCACAGAGCCTGGAATGGGAAGTCATCTCACTGGGTTTTACCATGCCTGTGGAAACAGGGATAAAACCACACCCAAGCTTCTGGTACATATTCATTCAGCTCTTCAAAGCTGGGTCTAGCATCAGGACATAAGTACACAAGGATGACACTGCCCTTGACACAAAGTAGCTTGAAGTCTAGTGAAGTAGACAGATTAATAAGTAGATACACTGAATACAAAAAGCAAAGCTATGATAAAGGGTCCAAAGGAGGAGCATTCAAGTTGGGATTAGGGTGTGGTCAGGGAAATGCCTCCAGCTGGAAAATGGTTAAATAAATTATGGCTATGTGCATTTAATGGGCTATTATGCAGCCATTCAAAATGGAGTTTGAGCCTGGCGTAGTGGCTCAGGCCTGCAGTCCCAGCACTTTGGGAGGCTGATGAGGGAGGATCACTTAGGTCAGAGGTTTGAAGCCAACCTGGGCAACACAGCAAGACCTTTTCTCTAAAAAAATGAAATAAAATACAGATTAGCCAGGCATGGTGGCATGAACCTGTAGTCCCAGCTACTCAGGAGGCTAAAGCAGGAGGATCCCTTGAGCCCAGGAGTTTGAGATTACAGTGAGCTATGATCACACTACTGCATGCCAGTCTGGGCAACAGAGAGAGACCCCATATCTAAATAATATGGTAAATGAGTTTTATGATATAACTCCCTAAAACTAAATGGAAAAACCTAAGAAGTATTCTCAACATGGATAAGTCTATTATTTTTTTTAAAAGTCTGGAATAACATATTATGTACAATATTTGGGTGGTTTTACTGGCTCTTCAAGCCATTGGTGTTTTCTCTCTTAGATGCCTGTGGGCCTTTTGCTTCTTTCTGGCCACAGACGACTATTCCAATGGTGGGTTGGAAAGCTCAGGATTGAGGGAAGGCAGCCTTACCCTGCCCACAAGCACGGGGTCAGGCCCGGTGTACTCCTCTATCACGAAGAACTGGTTCCAGACCCAGCCACGCTTGGAGCGCTGTAGCACCTGCCCCTCCTTGCCCTTCTCATGGTGCCCATGGAAGGAGGGCCGCAGGTGCCCCCGCCGCTCTGGGGCAAAGGCATGGCTGTGGCACAGCATGCCCAGGCACACCAGGGCGGCTTGTAAACAGTAGTTCTCCTTCATTTTTGGTTACGTGGTAGGCACAGGAGAATGCAGCTGTCACCCCTTCCACCAACTGTACGGTGGTCTTGCTGAGGGTGGCCTCCCGGACGCGTCACGCAGACCTCTCTTGGGATGGAATGTCTCTGCTGGTTGAGCTCATCACGTCAGGGCTGCCCACGTCCCCAGTTAGCTTCTGCAAGCAGAGAGAGGTTGGATTAACTGCAGGCCAAATCCCCACTTCATTTCCATTCCTTTCAGTAAGCCTTCAGGACTGGGCATGAGTTTATCACGTGGGAGCTACGGGCTTTGGGGAAGCTCACTGACTGCTTTGAGCTCAGCTTGCTCATTTATGAAGTGGGGATAAGAGTGTACCCAGTACAAAGCTGTCACTGGGATTCACTGAGTAATGCATATAAGTCTCTTAGCACAATGCCTGGTACATAGTAAGCACTCCATATTTATCTGTTATAATTGATCAAAATTGTGCTTAGATATGATTTTGTAATAAGAAAACGGGGAATTAAAGGAGTCCAGATGAGGAACATATAATCCACACTGGGGTTCAGTTTAGGGAGAGGACAGATGGCTGGACTCAATCCTTTAGTGAGGTTGCTGTAATAAGAAAGGAGAGTGTGGGATTCCATGCAGAAGGAACATCACATCCAAAAGCACAGTGTGCTCCAAGATGTTCAGCATGCCTGGAGGTAGTAACGAAGAAGGCGGGCAGGCAATGGATCCTGTTAGGGAAGGGATGTAGGGGAAGATCCCAAGAAACCATTGATGGTTACTGAAATATTTACAGGAGAAATAATGGATTAAGGTCTCTTTGGTAAATCAGTTAAGGGTATAGTGTCAATTCAAGGAGGAAGATTTGCTTTTGTCTGGCAAAGATCCATCCACGAAGCCAAAGATCCTACCTTGCTTAGCCTGGAAGTCTCAGAAAGGATATTTTACAAGCTTTCACTAACTAGGAGAAGGAAAATAAAACAAAACAGTATATCCAACCAACCAGCCCAAGGTCATGTTCCCAGCACCCAGCCATGACTCAGCTACTCAACACCAGTGAGGATAAGCCAGTAATGCCTTTCACCTTTCTACACTCCTCACAGGTTTCTGAGCCACAGTCACTCTTGTCCTCTCTCCAGCACTCTGGTTCTTATTGCCAGTCCTTAACTTCTGCCTTGGGTTCTGGACTTCTTCATTGGACTTTCTCATGCTGAAAACTTATTCTTCTCTAAGGAATTCCCCTTGCTTGTTCTCCTCTCTTAGAACCATACATTTGTTTTCTGGAGAATCACCTTCTCTCTCTGGAGTGCCACCCAGACTCCAGAGAGAGAATCAGATGAGTTCACCACCAATGTGAGGGAATCTGAGAAAGTTCTTGTGCAGGAGGATGATACATTGATATTGAGGATAACATTCTGTTTCAGCACCTGGGTCTAAATGAAACTGGAAAACTTACTGAGCATTGTAGGAATCACTGTCATCACCTAATTTTTTGTTGTCTTCTTTGGGTGAAATGGTTCAGGGAAGAAGGGAGCAAGAAGGAAACAGCATGAATCTTGGCATAGTGGAAGGTACATAGACTTGGAGATCAGATGCATCTGGATCAGAATACCACTTCCATATTTTACAATCTGGGTTACTCTGGGCATGCCAATCAATCACTCTGAACCTCCATGTTTTCATGTGAATAATGAGGATGACAAGAATTGTTGCACCCATACAGGCCTGAACACAGAGTTGGGAACTGGACATGCAATAGGTTCCTTCTTCTTTTCCCAGAGTGTCACAACATAGGGGAAGATCTCAAGAAACCACTGATGGTTACTGAAATATTTACAGGAAAAATAATGGGTCAAGGTCTGATATGGTTTAGCTGTGTCCCCACCCAAATCTCATCTT
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TATGTCAATTATGTGAACATGAAGTGCTGTTCTCATGTAAAAGAACAATTAAGATAACTTCGTAGAAATCAGTAGGGTTCAGAAACCCCTCAAACCTATTCTCTTTCCCCTTTACCTTCCACTGGATAATTCCTGTTCATCTTTTAGGTTACAGGTTATTCCCATGTTGTCCTTGAAACCTTCCTTTGACATCCCTCCCAAATATTACCATGTAAATTCATAATCATTTACATTGAATGTCCTCATTATTCTATTATTCATTTTCTTTTTTTCTTTTTTTTTTTTTAATTGCTTAGGTAACTGTCTCTTTTCCACTAGACCTCTTTGAGGTTAGGAGCTATCTTAATCTAGTTTACATTTTGCCTAGCACGGCAGCTGCTCCACATGATAGGATTTCAGTTCTTATGTATCTAAGGATCTATCTTTGTTTTTTTTTTTTTTGAGATGGAGGCCTTTGTCTCATAATAATAATTTAAACTTAAATAATAAAAATACTTTAACAAAAATGAGAAAATGGCATTAGTAATAAATAATACTATTAATATTGTTAATATTAACTGGCATTGTTAATAATCATCTTTTTTATTATTTATTTATTTATTTATTCATTCATTTTTTGAGACAGAGTCTCACTCTGTCTCCCAGGCTGGAGTACAGTGGCACATCTTGGCTTACTGCAACAACTCCTTCCCATGTTCAAGCGATTCCCCTGCCTCAGCCTCTGGAGTAGTTGGGATTACAGGCACTCACCACCACGCCTGGCTAATATTTGTGTTGTTAGTAGAGACGGGGTTTCACCATACTGGGCAGGCTGGTCTTGAACTCCTGACATCCCGTGATTCACCTGCCTCAGCCTCCCAGAGAACTAGGATTACAGGTGTGAGCCACTGTGCTGGCCGCACATATCTTTTTGCAGTTTTAATGTCACTATCATCTGAAAGATAACTGTACATTTTACTCAAATGCTAGTGGGTAGGTAATTTTCCAAACTCTCTTGAATTTGTATTTTGGACCCTCTTTCTACACTTGCACTTTTCTGGAAGGGATACACAGAGACCACAGAGCCTGGAATGGGAAGTCATCTCACTGGGTTTTACCATGCCTGTGGAAACAGGGATAAAACCACACCCAAGCTTCTGGTACATATTCATTCAGCTCTTCAAAGCTGGGTCTAGCATCAGGACATAAGTACACAAGGATGACACTGCCCTTGACACAAAGTAGCTTGAAGTCTAGTGAAGTAGACAGATTAATAAGTAGATACACTGAATACAAAAAGCAAAGCTATGATAAAGGGTCCAAAGGAGGAGCATTCAAGTTGGGATTAGGGTGTGGTCAGGGAAATGCCTCCAGCTGGAAAATGGTTAAATAAATTATGGCTATGTGCATTTAATGGGCTATTATGCAGCCATTCAAAATGGAGTTTGAGCCTGGCGTAGTGGCTCAGGCCTGCAGTCCCAGCACTTTGGGAGGCTGATGAGGGAGGATCACTTAGGTCAGAGGTTTGAAGCCAACCTGGGCAACACAGCAAGACCTTTTCTCTAAAAAAATGAAATAAAATACAGATTAGCCAGGCATGGTGGCATGAACCTGTAGTCCCAGCTACTCAGGAGGCTAAAGCAGGAGGATCCCTTGAGCCCAGGAGTTTGAGATTACAGTGAGCTATGATCACACTACTGCATGCCAGTCTGGGCAACAGAGAGAGACCCCATATCTAAATAATATGGTAAATGAGTTTTATGATATAACTCCCTAAAACTAAATGGAAAAACCTAAGAAGTATTCTCAACATGGATAAGTCTATTATTTTTTTTAAAAGTCTGGAATAACATATTATGTACAATATTTGGGTGGTTTTACTGGCTCTTCAAGCCATTGGTGTTTTCTCTCTTAGATGCCTGTGGGCCTTTTGCTTCTTTCTGGCCACAGACGACTATTCCAATGGTGGGTTGGAAAGCTCAGGATTGAGGGAAGGCAGCCTTACCCTGCCCACAAGCACGGGGTCAGGCCCGGTGTACTCCTCTATCACGAAGAACTGGTTCCAGACCGAGCCACGCTTGGAGCGCTGTAGCACCTGCCCCTCCTTGCCCTTCTCATGGTGCCCATGGAAGGAGGGCCGCAGGTGCCCCCGCCGCTCTGGGGCAAAGGCATGGCTGTGGCACAGCATGCCCAGGCACACCAGGGCGGCTTGTAAACAGTAGTTCTCCTTCATTTTTGGTTACGTGGTAGGCACAGGAGAATGCAGCTGTCACCCCTTCCACCAACTGTACGGTGGTCTTGCTGAGGGTGGCCTCCCGGACGCGTCACGCAGACCTCTCTTGGGATGGAATGTCTCTGCTGGTTGAGCTCATCACGTCAGGGCTGCCCACGTCCCCAGTTAGCTTCTGCAAGCAGAGAGAGGTTGGATTAACTGCAGGCCAAATCCCCACTTCATTTCCATTCCTTTCAGTAAGCCTTCAGGACTGGGCATGAGTTTATCACGTGGGAGCTACGGGCTTTGGGGAAGCTCACTGACTGCTTTGAGCTCAGCTTGCTCATTTATGAAGTGGGGATAAGAGTGTACCCAGTACAAAGCTGTCACTGGGATTCACTGAGTAATGCATATAAGTCTCTTAGCACAATGCCTGGTACATAGTAAGCACTCCATATTTATCTGTTATAATTGATCAAAATTGTGCTTAGATATGATTTTGTAATAAGAAAACGGGGAATTAAAGGAGTCCAGATGAGGAACATATAATCCACACTGGGGTTCAGTTTAGGGAGAGGACAGATGGCTGGACTCAATCCTTTAGTGAGGTTGCTGTAATAAGAAAGGAGAGTGTGGGATTCCATGCAGAAGGAACATCACATCCAAAAGCACAGTGTGCTCCAAGATGTTCAGCATGCCTGGAGGTAGTAACGAAGAAGGCGGGCAGGCAATGGATCCTGTTAGGGAAGGGATGTAGGGGAAGATCCCAAGAAACCATTGATGGTTACTGAAATATTTACAGGAGAAATAATGGATTAAGGTCTCTTTGGTAAATCAGTTAAGGGTATAGTGTCAATTCAAGGAGGAAGATTTGCTTTTGTCTGGCAAAGATCCATCCACGAAGCCAAAGATCCTACCTTGCTTAGCCTGGAAGTCTCAGAAAGGATATTTTACAAGCTTTCACTAACTAGGAGAAGGAAAATAAAACAAAACAGTATATCCAACCAACCAGCCCAAGGTCATGTTCCCAGCACCCAGCCATGACTCAGCTACTCAACACCAGTGAGGATAAGCCAGTAATGCCTTTCACCTTTCTACACTCCTCACAGGTTTCTGAGCCACAGTCACTCTTGTCCTCTCTCCAGCACTCTGGTTCTTATTGCCAGTCCTTAACTTCTGCCTTGGGTTCTGGACTTCTTCATTGGACTTTCTCATGCTGAAAACTTATTCTTCTCTAAGGAATTCCCCTTGCTTGTTCTCCTCTCTTAGAACCATACATTTGTTTTCTGGAGAATCACCTTCTCTCTCTGGAGTGCCACCCAGACTCCAGAGAGAGAATCAGATGAGTTCACCACCAATGTGAGGGAATCTGAGAAAGTTCTTGTGCAGGAGGATGATACATTGATATTGAGGATAACATTCTGTTTCAGCACCTGGGTCTAAATGAAACTGGAAAACTTACTGAGCATTGTAGGAATCACTGTCATCACCTAATTTTTTGTTGTCTTCTTTGGGTGAAATGGTTCAGGGAAGAAGGGAGCAAGAAGGAAACAGCATGAATCTTGGCATAGTGGAAGGTACATAGACTTGGAGATCAGATGCATCTGGATCAGAATACCACTTCCATATTTTACAATCTGGGTTACTCTGGGCATGCCAATCAATCACTCTGAACCTCCATGTTTTCATGTGAATAATGAGGATGACAAGAATTGTTGCACCCATACAGGCCTGAACACAGAGTTGGGAACTGGACATGCAATAGGTTCCTTCTTCTTTTCCCAGAGTGTCACAACATAGGGGAAGATCTCAAGAAACCACTGATGGTTACTGAAATATTTACAGGAAAAATAATGGGTCAAGGTCTGATATGGTTTAGCTGTGTCCCCACCCAAATCTCATCTT
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Task1_train_22776
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A variant was discovered on Chromosome 16, affecting TK2 (thymidine kinase 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form
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AGAGCGACTCAGCAGCACAAAGCCATGGGAGAGGCACCGGGGGAATGTGAGGCTGCGAACAGCAAAGGGCTTGGCAAACCCATTGGTCCCGTTTGTCATTTACCCACGAGGGCCAGAGACGCATGACAAAGACACTAGCAAAGGAGATGAGACCATTAGGAAAATCAAGCTGGCCAGACACAAAGCCCTCCTGGGAGCAAGTTTTTCCAGATTGCTCCCAATAGCTAACTTGGCAGCAGCAGGCATTTTTCAGACATGAGCCATAGACCTTTTGCCTCCTATGGGCAATGCTTCCGATTCTCTGGAGTTAATATTCGATCCCGATTTTGTTCAAAGAGTTCTAACATCCTCTCCATGTGGTGGTCAGCCTCAATCACCTGGAAATTAGACACATGGGTCACAAGGCTGCACTGACCTCAGCAGCATCCTCCTTTCACAGCTGGAGACAGACAGATGGAAGCAGGCAGCAGGGGGCAGGGAAGGGCACAGAAGGTTGCAGGCAGATAAAAAGGAAGGTTAGAGCCAAATCGCTTTCAGCTCTAGGGCAATCTACATTTCCAATGAGGTTTTCACTTAAGAATGTACTACAAGAGCTAGGTATGGTGGCTCATGTCTATTATCCAAGCACTTTGGGAGGCTGAGACCTGAAGATTACACGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACAGTGAGACCCTGTAAGCTCATGAATGATTTGTTTTTTTCCCTCATCACTTTCTACCCTCCTTTTTTTCCATAATGAGGGAGAAAAATAAGCTGTACTTATTTAAAAATCTACTACAGTAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCCAGAATTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCTTGGCCAACGTGGCAAAATCCCATCTCTACGAAAAATATAAAAAATTATCCAGGCATGGTGGCATGCGCCTGTAGTCCCAGCTATTCAGGAGGCTGAGGCAAGAGAATCATTTGAACCCAGGAGGCAGAGGTTGCAGCGAGCCGAGATTGCGTCACTGCATTCCAGTCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAACAAACAAACAAAAAATTACTACAGTAATATCTCACTTTCCGGCAACCTCACTGCCTGCAAGAGCCATAAGCAGAAGTGTTTGAGCCCAAACAGATATTCCTATGGCCACGCACAAAAGCTCATGCACAGCCCTGCCTCACATCCCATCAAACAATGCTCCTATAGCCATGCACCAAAGCTTGCGCACAACCCTGCCTCACAGCCAATCCCATGTTGTATATGTAACCATCTTAGGTTCCCTCCAATCAAGACTCGGAGGGACCCCAGACTCCGCATTTCTTGGGAGCATCTGGGCCACTGCTTATTTGTCTGAGTAAAGAAATCTGGAAACAGCAAACTGGAAAACAAGGAGATGGGGAAGTAAGGAAATGCTGACGGGACAGACACATCAATATCAGTCAGAAATGACACATGGCAGCAAGAGAAAGGAGGATTACTGTAAAAAGTAAACACAGGAACGCAGAGACATTAGTGGGCAGGGCAGACAGTTCCACACACCTCAGCATTCCTAAGGGCATCACTGTGTGACAGCCCAGACCAGACAATGACATTCCTTCTGATGACCTGAGTCACCAAACAAAGGTGAAATGAGGCTCTGTGTCATCCACGGAAGGAGGAAGGTCACATCAGAGGAACTACTATCCCAAATGGTGAAAACTGAGACCCGGGTCTAGAGTCTTCGCTGAAGATGCTGGATCAGTGACAACTGCCAGGTGTGATGGCACTGGCACAGACTGCCTTCCCTCGGGTCTGGCCAACTCACTCTGAGACTCAGCCCAGAAACAGGCACTGGGAGAGAGAGCACCAGCCTTCCCACCTTCCTTCTTCTAAGTTGTCAAACTCTAAAGGACTGTGCCCTCCCCTGTCTGCAAGGTGGCTGACATTCCCCGGGTCACTCCTCTTTCTAGAACAGTCTCGTACCCTGTAAGGGAGTCTTACTTACCAGAACAGGGGCTGCCATGGGGAAAAGGCTGCCTTTGATGAGCCACTCCTCATGGAGATGGTGAATTGCTTCCAGGTATTCCTGCCAGGGAAACACAAGCAGTCTGTCGGGAGTGGACAGAGCAGACCCCACCTACCAAGGGTGTCAAGCAGAGGGGGTCAAAGTAGTCAATGACCATGGGCAGTGACTCAGACAAAGGAACCCTGCAAGAGCAAACCTGGCTCAAGTGGACAGCGGCAGACGCAGCCACACACTCGGTGGCCAGGCTGAGCAAAACAGCACAAGTGTCACCAGCCACCCTGCTCTGCTCCACTGGGGGTTCGTGGGCACAAACACTGGCCCTTCCCCTGGCGCCTGAATCAAAGCCAAGGCAAAAGGCAGGACCCCCTCCCCCTCCCCCTCTCCCTCTCCCCTTTGCACGGTTTCCCTCTGATGCCCAGCCGAGGCTGGACTGTACTGCCGCCAACTCGACTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCAAGTGCCTGGGATTGCAGGCGCGCACCGCCATGCCTGACTGGTTTTCGTATTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTGGTTCACTCAGTGCTCAATGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCTGCCACCCCGTCTAGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTAGGATGTGAGGACCCCTCTGCCCGGCCGCTCAGTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTACCCAATAGCTCATTGAGAACGGGCCATGATGACGATGGCGGTTTTGTCTAATAGAAAAGGGGGAAATGTGGGGAAAAGAAAGATCAGATTGTTACTGTGTCTGTGTAGAAAGAAGTAGACATAGGAGACTCCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATGCTGTTAGTCTATAACCTTACCCCCAACCCCGTGCTCTCTGAAACGTGTGCTGTGTCCACTAAGGGTTAAATGGATTAAGGGCGATGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGTAGCATACTCATTAAGAGTCATCACCATTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCGGCAGGGCCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACATGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTCCGAGAAACACCCAAGAATGATCAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCC
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AGAGCGACTCAGCAGCACAAAGCCATGGGAGAGGCACCGGGGGAATGTGAGGCTGCGAACAGCAAAGGGCTTGGCAAACCCATTGGTCCCGTTTGTCATTTACCCACGAGGGCCAGAGACGCATGACAAAGACACTAGCAAAGGAGATGAGACCATTAGGAAAATCAAGCTGGCCAGACACAAAGCCCTCCTGGGAGCAAGTTTTTCCAGATTGCTCCCAATAGCTAACTTGGCAGCAGCAGGCATTTTTCAGACATGAGCCATAGACCTTTTGCCTCCTATGGGCAATGCTTCCGATTCTCTGGAGTTAATATTCGATCCCGATTTTGTTCAAAGAGTTCTAACATCCTCTCCATGTGGTGGTCAGCCTCAATCACCTGGAAATTAGACACATGGGTCACAAGGCTGCACTGACCTCAGCAGCATCCTCCTTTCACAGCTGGAGACAGACAGATGGAAGCAGGCAGCAGGGGGCAGGGAAGGGCACAGAAGGTTGCAGGCAGATAAAAAGGAAGGTTAGAGCCAAATCGCTTTCAGCTCTAGGGCAATCTACATTTCCAATGAGGTTTTCACTTAAGAATGTACTACAAGAGCTAGGTATGGTGGCTCATGTCTATTATCCAAGCACTTTGGGAGGCTGAGACCTGAAGATTACACGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACAGTGAGACCCTGTAAGCTCATGAATGATTTGTTTTTTTCCCTCATCACTTTCTACCCTCCTTTTTTTCCATAATGAGGGAGAAAAATAAGCTGTACTTATTTAAAAATCTACTACAGTAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCCAGAATTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCTTGGCCAACGTGGCAAAATCCCATCTCTACGAAAAATATAAAAAATTATCCAGGCATGGTGGCATGCGCCTGTAGTCCCAGCTATTCAGGAGGCTGAGGCAAGAGAATCATTTGAACCCAGGAGGCAGAGGTTGCAGCGAGCCGAGATTGCGTCACTGCATTCCAGTCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAACAAACAAACAAAAAATTACTACAGTAATATCTCACTTTCCGGCAACCTCACTGCCTGCAAGAGCCATAAGCAGAAGTGTTTGAGCCCAAACAGATATTCCTATGGCCACGCACAAAAGCTCATGCACAGCCCTGCCTCACATCCCATCAAACAATGCTCCTATAGCCATGCACCAAAGCTTGCGCACAACCCTGCCTCACAGCCAATCCCATGTTGTATATGTAACCATCTTAGGTTCCCTCCAATCAAGACTCGGAGGGACCCCAGACTCCGCATTTCTTGGGAGCATCTGGGCCACTGCTTATTTGTCTGAGTAAAGAAATCTGGAAACAGCAAACTGGAAAACAAGGAGATGGGGAAGTAAGGAAATGCTGACGGGACAGACACATCAATATCAGTCAGAAATGACACATGGCAGCAAGAGAAAGGAGGATTACTGTAAAAAGTAAACACAGGAACGCAGAGACATTAGTGGGCAGGGCAGACAGTTCCACACACCTCAGCATTCCTAAGGGCATCACTGTGTGACAGCCCAGACCAGACAATGACATTCCTTCTGATGACCTGAGTCACCAAACAAAGGTGAAATGAGGCTCTGTGTCATCCACGGAAGGAGGAAGGTCACATCAGAGGAACTACTATCCCAAATGGTGAAAACTGAGACCCGGGTCTAGAGTCTTCGCTGAAGATGCTGGATCAGTGACAACTGCCAGGTGTGATGGCACTGGCACAGACTGCCTTCCCTCGGGTCTGGCCAACTCACTCTGAGACTCAGCCCAGAAACAGGCACTGGGAGAGAGAGCACCAGCCTTCCCACCTTCCTTCTTCTAAGTTGTCAAACTCTAAAGGACTGTGCCCTCCCCTGTCTGCAAGGTGGCTGACATTCCCCGGGTCACTCCTCTTTCTAGAACAGTCTCGTACCCTGTAAGGGAGTCTTACTTACCAGAACAAGGGCTGCCATGGGGAAAAGGCTGCCTTTGATGAGCCACTCCTCATGGAGATGGTGAATTGCTTCCAGGTATTCCTGCCAGGGAAACACAAGCAGTCTGTCGGGAGTGGACAGAGCAGACCCCACCTACCAAGGGTGTCAAGCAGAGGGGGTCAAAGTAGTCAATGACCATGGGCAGTGACTCAGACAAAGGAACCCTGCAAGAGCAAACCTGGCTCAAGTGGACAGCGGCAGACGCAGCCACACACTCGGTGGCCAGGCTGAGCAAAACAGCACAAGTGTCACCAGCCACCCTGCTCTGCTCCACTGGGGGTTCGTGGGCACAAACACTGGCCCTTCCCCTGGCGCCTGAATCAAAGCCAAGGCAAAAGGCAGGACCCCCTCCCCCTCCCCCTCTCCCTCTCCCCTTTGCACGGTTTCCCTCTGATGCCCAGCCGAGGCTGGACTGTACTGCCGCCAACTCGACTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCAAGTGCCTGGGATTGCAGGCGCGCACCGCCATGCCTGACTGGTTTTCGTATTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTGGTTCACTCAGTGCTCAATGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCTGCCACCCCGTCTAGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTAGGATGTGAGGACCCCTCTGCCCGGCCGCTCAGTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTACCCAATAGCTCATTGAGAACGGGCCATGATGACGATGGCGGTTTTGTCTAATAGAAAAGGGGGAAATGTGGGGAAAAGAAAGATCAGATTGTTACTGTGTCTGTGTAGAAAGAAGTAGACATAGGAGACTCCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATGCTGTTAGTCTATAACCTTACCCCCAACCCCGTGCTCTCTGAAACGTGTGCTGTGTCCACTAAGGGTTAAATGGATTAAGGGCGATGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGTAGCATACTCATTAAGAGTCATCACCATTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCGGCAGGGCCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACATGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTCCGAGAAACACCCAAGAATGATCAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCC
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Task1_train_22777
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Gene TK2 (thymidine kinase 2), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Mitochondrial disease
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AACAGCAAAGGGCTTGGCAAACCCATTGGTCCCGTTTGTCATTTACCCACGAGGGCCAGAGACGCATGACAAAGACACTAGCAAAGGAGATGAGACCATTAGGAAAATCAAGCTGGCCAGACACAAAGCCCTCCTGGGAGCAAGTTTTTCCAGATTGCTCCCAATAGCTAACTTGGCAGCAGCAGGCATTTTTCAGACATGAGCCATAGACCTTTTGCCTCCTATGGGCAATGCTTCCGATTCTCTGGAGTTAATATTCGATCCCGATTTTGTTCAAAGAGTTCTAACATCCTCTCCATGTGGTGGTCAGCCTCAATCACCTGGAAATTAGACACATGGGTCACAAGGCTGCACTGACCTCAGCAGCATCCTCCTTTCACAGCTGGAGACAGACAGATGGAAGCAGGCAGCAGGGGGCAGGGAAGGGCACAGAAGGTTGCAGGCAGATAAAAAGGAAGGTTAGAGCCAAATCGCTTTCAGCTCTAGGGCAATCTACATTTCCAATGAGGTTTTCACTTAAGAATGTACTACAAGAGCTAGGTATGGTGGCTCATGTCTATTATCCAAGCACTTTGGGAGGCTGAGACCTGAAGATTACACGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACAGTGAGACCCTGTAAGCTCATGAATGATTTGTTTTTTTCCCTCATCACTTTCTACCCTCCTTTTTTTCCATAATGAGGGAGAAAAATAAGCTGTACTTATTTAAAAATCTACTACAGTAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCCAGAATTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCTTGGCCAACGTGGCAAAATCCCATCTCTACGAAAAATATAAAAAATTATCCAGGCATGGTGGCATGCGCCTGTAGTCCCAGCTATTCAGGAGGCTGAGGCAAGAGAATCATTTGAACCCAGGAGGCAGAGGTTGCAGCGAGCCGAGATTGCGTCACTGCATTCCAGTCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAACAAACAAACAAAAAATTACTACAGTAATATCTCACTTTCCGGCAACCTCACTGCCTGCAAGAGCCATAAGCAGAAGTGTTTGAGCCCAAACAGATATTCCTATGGCCACGCACAAAAGCTCATGCACAGCCCTGCCTCACATCCCATCAAACAATGCTCCTATAGCCATGCACCAAAGCTTGCGCACAACCCTGCCTCACAGCCAATCCCATGTTGTATATGTAACCATCTTAGGTTCCCTCCAATCAAGACTCGGAGGGACCCCAGACTCCGCATTTCTTGGGAGCATCTGGGCCACTGCTTATTTGTCTGAGTAAAGAAATCTGGAAACAGCAAACTGGAAAACAAGGAGATGGGGAAGTAAGGAAATGCTGACGGGACAGACACATCAATATCAGTCAGAAATGACACATGGCAGCAAGAGAAAGGAGGATTACTGTAAAAAGTAAACACAGGAACGCAGAGACATTAGTGGGCAGGGCAGACAGTTCCACACACCTCAGCATTCCTAAGGGCATCACTGTGTGACAGCCCAGACCAGACAATGACATTCCTTCTGATGACCTGAGTCACCAAACAAAGGTGAAATGAGGCTCTGTGTCATCCACGGAAGGAGGAAGGTCACATCAGAGGAACTACTATCCCAAATGGTGAAAACTGAGACCCGGGTCTAGAGTCTTCGCTGAAGATGCTGGATCAGTGACAACTGCCAGGTGTGATGGCACTGGCACAGACTGCCTTCCCTCGGGTCTGGCCAACTCACTCTGAGACTCAGCCCAGAAACAGGCACTGGGAGAGAGAGCACCAGCCTTCCCACCTTCCTTCTTCTAAGTTGTCAAACTCTAAAGGACTGTGCCCTCCCCTGTCTGCAAGGTGGCTGACATTCCCCGGGTCACTCCTCTTTCTAGAACAGTCTCGTACCCTGTAAGGGAGTCTTACTTACCAGAACAGGGGCTGCCATGGGGAAAAGGCTGCCTTTGATGAGCCACTCCTCATGGAGATGGTGAATTGCTTCCAGGTATTCCTGCCAGGGAAACACAAGCAGTCTGTCGGGAGTGGACAGAGCAGACCCCACCTACCAAGGGTGTCAAGCAGAGGGGGTCAAAGTAGTCAATGACCATGGGCAGTGACTCAGACAAAGGAACCCTGCAAGAGCAAACCTGGCTCAAGTGGACAGCGGCAGACGCAGCCACACACTCGGTGGCCAGGCTGAGCAAAACAGCACAAGTGTCACCAGCCACCCTGCTCTGCTCCACTGGGGGTTCGTGGGCACAAACACTGGCCCTTCCCCTGGCGCCTGAATCAAAGCCAAGGCAAAAGGCAGGACCCCCTCCCCCTCCCCCTCTCCCTCTCCCCTTTGCACGGTTTCCCTCTGATGCCCAGCCGAGGCTGGACTGTACTGCCGCCAACTCGACTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCAAGTGCCTGGGATTGCAGGCGCGCACCGCCATGCCTGACTGGTTTTCGTATTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTGGTTCACTCAGTGCTCAATGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCTGCCACCCCGTCTAGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTAGGATGTGAGGACCCCTCTGCCCGGCCGCTCAGTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTACCCAATAGCTCATTGAGAACGGGCCATGATGACGATGGCGGTTTTGTCTAATAGAAAAGGGGGAAATGTGGGGAAAAGAAAGATCAGATTGTTACTGTGTCTGTGTAGAAAGAAGTAGACATAGGAGACTCCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATGCTGTTAGTCTATAACCTTACCCCCAACCCCGTGCTCTCTGAAACGTGTGCTGTGTCCACTAAGGGTTAAATGGATTAAGGGCGATGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGTAGCATACTCATTAAGAGTCATCACCATTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCGGCAGGGCCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACATGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTCCGAGAAACACCCAAGAATGATCAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATC
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AACAGCAAAGGGCTTGGCAAACCCATTGGTCCCGTTTGTCATTTACCCACGAGGGCCAGAGACGCATGACAAAGACACTAGCAAAGGAGATGAGACCATTAGGAAAATCAAGCTGGCCAGACACAAAGCCCTCCTGGGAGCAAGTTTTTCCAGATTGCTCCCAATAGCTAACTTGGCAGCAGCAGGCATTTTTCAGACATGAGCCATAGACCTTTTGCCTCCTATGGGCAATGCTTCCGATTCTCTGGAGTTAATATTCGATCCCGATTTTGTTCAAAGAGTTCTAACATCCTCTCCATGTGGTGGTCAGCCTCAATCACCTGGAAATTAGACACATGGGTCACAAGGCTGCACTGACCTCAGCAGCATCCTCCTTTCACAGCTGGAGACAGACAGATGGAAGCAGGCAGCAGGGGGCAGGGAAGGGCACAGAAGGTTGCAGGCAGATAAAAAGGAAGGTTAGAGCCAAATCGCTTTCAGCTCTAGGGCAATCTACATTTCCAATGAGGTTTTCACTTAAGAATGTACTACAAGAGCTAGGTATGGTGGCTCATGTCTATTATCCAAGCACTTTGGGAGGCTGAGACCTGAAGATTACACGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACAGTGAGACCCTGTAAGCTCATGAATGATTTGTTTTTTTCCCTCATCACTTTCTACCCTCCTTTTTTTCCATAATGAGGGAGAAAAATAAGCTGTACTTATTTAAAAATCTACTACAGTAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCCAGAATTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCTTGGCCAACGTGGCAAAATCCCATCTCTACGAAAAATATAAAAAATTATCCAGGCATGGTGGCATGCGCCTGTAGTCCCAGCTATTCAGGAGGCTGAGGCAAGAGAATCATTTGAACCCAGGAGGCAGAGGTTGCAGCGAGCCGAGATTGCGTCACTGCATTCCAGTCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAACAAACAAACAAAAAATTACTACAGTAATATCTCACTTTCCGGCAACCTCACTGCCTGCAAGAGCCATAAGCAGAAGTGTTTGAGCCCAAACAGATATTCCTATGGCCACGCACAAAAGCTCATGCACAGCCCTGCCTCACATCCCATCAAACAATGCTCCTATAGCCATGCACCAAAGCTTGCGCACAACCCTGCCTCACAGCCAATCCCATGTTGTATATGTAACCATCTTAGGTTCCCTCCAATCAAGACTCGGAGGGACCCCAGACTCCGCATTTCTTGGGAGCATCTGGGCCACTGCTTATTTGTCTGAGTAAAGAAATCTGGAAACAGCAAACTGGAAAACAAGGAGATGGGGAAGTAAGGAAATGCTGACGGGACAGACACATCAATATCAGTCAGAAATGACACATGGCAGCAAGAGAAAGGAGGATTACTGTAAAAAGTAAACACAGGAACGCAGAGACATTAGTGGGCAGGGCAGACAGTTCCACACACCTCAGCATTCCTAAGGGCATCACTGTGTGACAGCCCAGACCAGACAATGACATTCCTTCTGATGACCTGAGTCACCAAACAAAGGTGAAATGAGGCTCTGTGTCATCCACGGAAGGAGGAAGGTCACATCAGAGGAACTACTATCCCAAATGGTGAAAACTGAGACCCGGGTCTAGAGTCTTCGCTGAAGATGCTGGATCAGTGACAACTGCCAGGTGTGATGGCACTGGCACAGACTGCCTTCCCTCGGGTCTGGCCAACTCACTCTGAGACTCAGCCCAGAAACAGGCACTGGGAGAGAGAGCACCAGCCTTCCCACCTTCCTTCTTCTAAGTTGTCAAACTCTAAAGGACTGTGCCCTCCCCTGTCTGCAAGGTGGCTGACATTCCCCGGGTCACTCCTCTTTCTAGAACAGTCTCGTACCCTGTAAGGGAGTCTTACTTACCAGAACAGGGGCTGCCATGGGGAAAAGGCTGCCTTTGATGAGCCACTCCTCATGGAGATGGTGATTTGCTTCCAGGTATTCCTGCCAGGGAAACACAAGCAGTCTGTCGGGAGTGGACAGAGCAGACCCCACCTACCAAGGGTGTCAAGCAGAGGGGGTCAAAGTAGTCAATGACCATGGGCAGTGACTCAGACAAAGGAACCCTGCAAGAGCAAACCTGGCTCAAGTGGACAGCGGCAGACGCAGCCACACACTCGGTGGCCAGGCTGAGCAAAACAGCACAAGTGTCACCAGCCACCCTGCTCTGCTCCACTGGGGGTTCGTGGGCACAAACACTGGCCCTTCCCCTGGCGCCTGAATCAAAGCCAAGGCAAAAGGCAGGACCCCCTCCCCCTCCCCCTCTCCCTCTCCCCTTTGCACGGTTTCCCTCTGATGCCCAGCCGAGGCTGGACTGTACTGCCGCCAACTCGACTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCAAGTGCCTGGGATTGCAGGCGCGCACCGCCATGCCTGACTGGTTTTCGTATTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTGGTTCACTCAGTGCTCAATGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCTGCCACCCCGTCTAGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTAGGATGTGAGGACCCCTCTGCCCGGCCGCTCAGTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTACCCAATAGCTCATTGAGAACGGGCCATGATGACGATGGCGGTTTTGTCTAATAGAAAAGGGGGAAATGTGGGGAAAAGAAAGATCAGATTGTTACTGTGTCTGTGTAGAAAGAAGTAGACATAGGAGACTCCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATGCTGTTAGTCTATAACCTTACCCCCAACCCCGTGCTCTCTGAAACGTGTGCTGTGTCCACTAAGGGTTAAATGGATTAAGGGCGATGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGTAGCATACTCATTAAGAGTCATCACCATTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCGGCAGGGCCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACATGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTCCGAGAAACACCCAAGAATGATCAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATC
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Task1_train_22778
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The following genetic variant occurs in TK2 (thymidine kinase 2) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Mitochondrial disease
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CCCTCTCCGAGAAACACCCAAGAATGATCAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTATAAACAAATAGTGTCAGTATGCTGTCCTAAGGCCCATGATCACAGAAAGCCAGGGGGTGGGTTTGGGGGGGGTTACAATGGAAGGAAGGTCAGGGGTGGCTTCCTGGAGGAGGTGACATCTGAGTAACACTTTAAAGACAAAGGAAACGACTGTGCAAAGGCACATTTGCATAACTCCACTGTGTATGTGGTTGTTTGTGTGTGGCCACAACTAGTTCCTTATAGCCAGAGCATAGAAAGTAGGGAATGGAGGATGATAACGCCAGAGAGGCAGTTGGGGCCGGGTCATAAGCCGTATTACAAAGTGGGGACTGCATTCTAGCCAGCAGCAAGGCACTGAAAGGTTCTGGGCTGGGAAATTGCACGAGTGGTGATGAGTATTGGAAATATCAGCCGGGCGGCAGCCTGGAGGCCAGATTTTGAAGGGAGATGCAAGGAGGGAAGGGCCAGGGCGAGATGCACAGCCCGGGCCTATACTGGCAGAGTCCCCATGAGAGTCAGTGTGGCCTGAGCAGAACTCAGAAGGGCATGGCATCTCTCCAGTGGGCAAACACCACTAAGCATGAGCACCGCCTCCGTGCCGGGCACTGTGCTAAGCACTAGGGATGCAGCAGTGAACAAGAGGGCTGGGTCCTGCCCTCCTGGAACTCGCATTCTAGGGAGGACACAGAGAGCACAAGGCCAGGCAATCTTCAGGAGGCAGAACAGACAAGCCCTGGTGCTGCCAAGATGGGGAGGGGCAGGTGGGGAGGGGAGGGGAACGCCTCCAAGCAGGAGGGTTGCCAAACTGTGAGTCAGCGACCACAGGAAGCCAAGCAGATCTGGACATCCACGTGGGTCTCTGGCCAAACAGGAAGTCAGAGTTCACCCTCTGATACACTTGGTTCCTGTTCTCTCTCTGCAAACAAGGGCACAATGATCTCATGGGGGTGGGGCCGGGAGAGGAAGCCGGGTTGGACAGAGGTGGTTTCCCAGTTTGTCTTTAACCAAGTCAAAGAGGCCTCTTACCAGCGGAATGACCTTCTCCTCTTCCCTGCATCTCTTCTTTAACCTCTGGTAACAAGTCTCAGGATTGGTCCGAAGGTAAACTGAGGTTAAAAGAATACGTGGCTCTCAGGACTCTGCTCATGGCTTGGAAGCAAAGCAGGCACACAGGCAAAGGCGGGAGGAAGGTCTGCACAGCTCGAGCAGGAAGCAGGGAGGGCCAGCTCTTGGCTTGACCACTGACCCTCCGCCTCGACTTTCATTCTCTTTCAGTGTCAGCGGCCCCGTGGGGTCGTTTTGAGGCTGAATGGGATTCTGTTCATAGACAGAGCTCAAAACAGGCCTCACACCCAGCAGGTCTCAGTGAATGTTCAGGCTCTGTCCTTCCTGTTCCTTTGCAAACTAGAAAAACCCATCAGATCACAGTGGATTTGGGTCTGAAAGTAGCTGAGCCAGGGAGGGAAGTTTAAAGAACAAAGGCCAGGGTTCTTCTCCATGAGAGACCAGAAGTCCCGAATTCTGTCTGCCCTCAGGGAGAAAGCTGAACTCCCATGGGGAAGGAACTGCCAAGGGCAAGTGCCTCACCCACTGCCCCCAAGGGTTGGGGCCCAGCCAAGCACATCCTCAAGGGACCCAGGAGAGAGACAAGAGAGGGAGGTGGGAGGGGTGCATCTCACCTATCAAATCAACAGACACGTCCATGTTCCTCAAGATCCAGTCAAACCATTCCGACAGAACTACATAGTCCACTTCTGGCATCTTCCCACTGCAATGAGAGTTGTAAGGGCTTATTCACCTAAGAGAAAACTTCTGGGCTATGCAATTCCCCCAAAAGGATCTTGAGACGGCTCTCAATGAAAGGAGTCACCAAGGGTACCAGGGCACAGTGTGATCCGTGCAATACTGGACATGCAGTGACAAGGACCCTAAGCATTCCCGACCTCCTGCTGCCTGGGAGCGGCTTATGGCACAATGCTGCAAGGGCCATGGCACGGAGTGATGGGAGAATTCACTTGGGATTGGAACTCTAAGCAGAGAAAGGGACTTTAAAGCTTGTACCCTGAGAACAGAGACAGTGCTCAGGTTAGGCAATGAATCAGCAAACCAATTTCACTTCTAGAAATTTATTTTGTGGACCAGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGAGGATCACTTGAGGCCAGAAGTTCAAGATCTGCCTGGGCAACATGGAAAGACCCCCATCTCTACAAAAACTACAAAAAAATTAACTAGGGGTGGTGGCGCATGCCTATGGTCCTAGCTACTCGGGAAACTGAGGCAGGTGGATCACTTGAGCCCAGGGGTTTAAGGCTGTAGTGGGTCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCTGACTCAAACAAAACAAAAAAATTTATTTTGTGAAAATAATCATGATGCTCACCGCGGCACTGTTTAAACCAATAAAAAACTAAATCTTGGTAAATCTATATAACAGAAAATTCACGCAGTAACTGAAGGATGATATTGTAAAATAATATTTAATGGCATGGAAAAATTTCAAATCTAATGTTCAGTGAAAGCAACAGGATCTAAAACTGTGTATATCCCAACCACATTTCCAAAAGTATTCACCAATGCATCTTGGAAAGGTGGGAAAGAAAAATATCAAAATGTAAAAAGTGCTTTTCTCAAGCTGCAGGACTACATGAGACTTTTCTTTTTTTCTTTATACCTTTTTGTATTTTCCAAATTTTAACAACACATTACTTCTCAAATCAGCAGTGGGAGTTGGGGAGCATTACTACATATTTTAGTTTTTATTTATTTTTTTTTTTTATTTTTTGAGACGTAGTGTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAAGCTCCGCCCCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTATTTTTTATTTTTTTAAGACAGAGTTTCACTCTGTCGCCCAGGCT
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CCCTCTCCGAGAAACACCCAAGAATGATCAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTATAAACAAATAGTGTCAGTATGCTGTCCTAAGGCCCATGATCACAGAAAGCCAGGGGGTGGGTTTGGGGGGGGTTACAATGGAAGGAAGGTCAGGGGTGGCTTCCTGGAGGAGGTGACATCTGAGTAACACTTTAAAGACAAAGGAAACGACTGTGCAAAGGCACATTTGCATAACTCCACTGTGTATGTGGTTGTTTGTGTGTGGCCACAACTAGTTCCTTATAGCCAGAGCATAGAAAGTAGGGAATGGAGGATGATAACGCCAGAGAGGCAGTTGGGGCCGGGTCATAAGCCGTATTACAAAGTGGGGACTGCATTCTAGCCAGCAGCAAGGCACTGAAAGGTTCTGGGCTGGGAAATTGCACGAGTGGTGATGAGTATTGGAAATATCAGCCGGGCGGCAGCCTGGAGGCCAGATTTTGAAGGGAGATGCAAGGAGGGAAGGGCCAGGGCGAGATGCACAGCCCGGGCCTATACTGGCAGAGTCCCCATGAGAGTCAGTGTGGCCTGAGCAGAACTCAGAAGGGCATGGCATCTCTCCAGTGGGCAAACACCACTAAGCATGAGCACCGCCTCCGTGCCGGGCACTGTGCTAAGCACTAGGGATGCAGCAGTGAACAAGAGGGCTGGGTCCTGCCCTCCTGGAACTCGCATTCTAGGGAGGACACAGAGAGCACAAGGCCAGGCAATCTTCAGGAGGCAGAACAGACAAGCCCTGGTGCTGCCAAGATGGGGAGGGGCAGGTGGGGAGGGGAGGGGAACGCCTCCAAGCAGGAGGGTTGCCAAACTGTGAGTCAGCGACCACAGGAAGCCAAGCAGATCTGGACATCCACGTGGGTCTCTGGCCAAACAGGAAGTCAGAGTTCACCCTCTGATACACTTGGTTCCTGTTCTCTCTCTGCAAACAAGGGCACAATGATCTCATGGGGGTGGGGCCGGGAGAGGAAGCCGGGTTGGACAGAGGTGGTTTCCCAGTTTGTCTTTAACCAAGTCAAAGAGGCCTCTTACCAGCGGAATGACCTTCTCCTCTTCCCTGCATCTCTTCTTTAACTTCTGGTAACAAGTCTCAGGATTGGTCCGAAGGTAAACTGAGGTTAAAAGAATACGTGGCTCTCAGGACTCTGCTCATGGCTTGGAAGCAAAGCAGGCACACAGGCAAAGGCGGGAGGAAGGTCTGCACAGCTCGAGCAGGAAGCAGGGAGGGCCAGCTCTTGGCTTGACCACTGACCCTCCGCCTCGACTTTCATTCTCTTTCAGTGTCAGCGGCCCCGTGGGGTCGTTTTGAGGCTGAATGGGATTCTGTTCATAGACAGAGCTCAAAACAGGCCTCACACCCAGCAGGTCTCAGTGAATGTTCAGGCTCTGTCCTTCCTGTTCCTTTGCAAACTAGAAAAACCCATCAGATCACAGTGGATTTGGGTCTGAAAGTAGCTGAGCCAGGGAGGGAAGTTTAAAGAACAAAGGCCAGGGTTCTTCTCCATGAGAGACCAGAAGTCCCGAATTCTGTCTGCCCTCAGGGAGAAAGCTGAACTCCCATGGGGAAGGAACTGCCAAGGGCAAGTGCCTCACCCACTGCCCCCAAGGGTTGGGGCCCAGCCAAGCACATCCTCAAGGGACCCAGGAGAGAGACAAGAGAGGGAGGTGGGAGGGGTGCATCTCACCTATCAAATCAACAGACACGTCCATGTTCCTCAAGATCCAGTCAAACCATTCCGACAGAACTACATAGTCCACTTCTGGCATCTTCCCACTGCAATGAGAGTTGTAAGGGCTTATTCACCTAAGAGAAAACTTCTGGGCTATGCAATTCCCCCAAAAGGATCTTGAGACGGCTCTCAATGAAAGGAGTCACCAAGGGTACCAGGGCACAGTGTGATCCGTGCAATACTGGACATGCAGTGACAAGGACCCTAAGCATTCCCGACCTCCTGCTGCCTGGGAGCGGCTTATGGCACAATGCTGCAAGGGCCATGGCACGGAGTGATGGGAGAATTCACTTGGGATTGGAACTCTAAGCAGAGAAAGGGACTTTAAAGCTTGTACCCTGAGAACAGAGACAGTGCTCAGGTTAGGCAATGAATCAGCAAACCAATTTCACTTCTAGAAATTTATTTTGTGGACCAGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGAGGATCACTTGAGGCCAGAAGTTCAAGATCTGCCTGGGCAACATGGAAAGACCCCCATCTCTACAAAAACTACAAAAAAATTAACTAGGGGTGGTGGCGCATGCCTATGGTCCTAGCTACTCGGGAAACTGAGGCAGGTGGATCACTTGAGCCCAGGGGTTTAAGGCTGTAGTGGGTCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCTGACTCAAACAAAACAAAAAAATTTATTTTGTGAAAATAATCATGATGCTCACCGCGGCACTGTTTAAACCAATAAAAAACTAAATCTTGGTAAATCTATATAACAGAAAATTCACGCAGTAACTGAAGGATGATATTGTAAAATAATATTTAATGGCATGGAAAAATTTCAAATCTAATGTTCAGTGAAAGCAACAGGATCTAAAACTGTGTATATCCCAACCACATTTCCAAAAGTATTCACCAATGCATCTTGGAAAGGTGGGAAAGAAAAATATCAAAATGTAAAAAGTGCTTTTCTCAAGCTGCAGGACTACATGAGACTTTTCTTTTTTTCTTTATACCTTTTTGTATTTTCCAAATTTTAACAACACATTACTTCTCAAATCAGCAGTGGGAGTTGGGGAGCATTACTACATATTTTAGTTTTTATTTATTTTTTTTTTTTATTTTTTGAGACGTAGTGTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAAGCTCCGCCCCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTATTTTTTATTTTTTTAAGACAGAGTTTCACTCTGTCGCCCAGGCT
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Task1_train_22779
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A variant was discovered in gene TK2 (thymidine kinase 2), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Mitochondrial DNA depletion syndrome
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CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTATAAACAAATAGTGTCAGTATGCTGTCCTAAGGCCCATGATCACAGAAAGCCAGGGGGTGGGTTTGGGGGGGGTTACAATGGAAGGAAGGTCAGGGGTGGCTTCCTGGAGGAGGTGACATCTGAGTAACACTTTAAAGACAAAGGAAACGACTGTGCAAAGGCACATTTGCATAACTCCACTGTGTATGTGGTTGTTTGTGTGTGGCCACAACTAGTTCCTTATAGCCAGAGCATAGAAAGTAGGGAATGGAGGATGATAACGCCAGAGAGGCAGTTGGGGCCGGGTCATAAGCCGTATTACAAAGTGGGGACTGCATTCTAGCCAGCAGCAAGGCACTGAAAGGTTCTGGGCTGGGAAATTGCACGAGTGGTGATGAGTATTGGAAATATCAGCCGGGCGGCAGCCTGGAGGCCAGATTTTGAAGGGAGATGCAAGGAGGGAAGGGCCAGGGCGAGATGCACAGCCCGGGCCTATACTGGCAGAGTCCCCATGAGAGTCAGTGTGGCCTGAGCAGAACTCAGAAGGGCATGGCATCTCTCCAGTGGGCAAACACCACTAAGCATGAGCACCGCCTCCGTGCCGGGCACTGTGCTAAGCACTAGGGATGCAGCAGTGAACAAGAGGGCTGGGTCCTGCCCTCCTGGAACTCGCATTCTAGGGAGGACACAGAGAGCACAAGGCCAGGCAATCTTCAGGAGGCAGAACAGACAAGCCCTGGTGCTGCCAAGATGGGGAGGGGCAGGTGGGGAGGGGAGGGGAACGCCTCCAAGCAGGAGGGTTGCCAAACTGTGAGTCAGCGACCACAGGAAGCCAAGCAGATCTGGACATCCACGTGGGTCTCTGGCCAAACAGGAAGTCAGAGTTCACCCTCTGATACACTTGGTTCCTGTTCTCTCTCTGCAAACAAGGGCACAATGATCTCATGGGGGTGGGGCCGGGAGAGGAAGCCGGGTTGGACAGAGGTGGTTTCCCAGTTTGTCTTTAACCAAGTCAAAGAGGCCTCTTACCAGCGGAATGACCTTCTCCTCTTCCCTGCATCTCTTCTTTAACCTCTGGTAACAAGTCTCAGGATTGGTCCGAAGGTAAACTGAGGTTAAAAGAATACGTGGCTCTCAGGACTCTGCTCATGGCTTGGAAGCAAAGCAGGCACACAGGCAAAGGCGGGAGGAAGGTCTGCACAGCTCGAGCAGGAAGCAGGGAGGGCCAGCTCTTGGCTTGACCACTGACCCTCCGCCTCGACTTTCATTCTCTTTCAGTGTCAGCGGCCCCGTGGGGTCGTTTTGAGGCTGAATGGGATTCTGTTCATAGACAGAGCTCAAAACAGGCCTCACACCCAGCAGGTCTCAGTGAATGTTCAGGCTCTGTCCTTCCTGTTCCTTTGCAAACTAGAAAAACCCATCAGATCACAGTGGATTTGGGTCTGAAAGTAGCTGAGCCAGGGAGGGAAGTTTAAAGAACAAAGGCCAGGGTTCTTCTCCATGAGAGACCAGAAGTCCCGAATTCTGTCTGCCCTCAGGGAGAAAGCTGAACTCCCATGGGGAAGGAACTGCCAAGGGCAAGTGCCTCACCCACTGCCCCCAAGGGTTGGGGCCCAGCCAAGCACATCCTCAAGGGACCCAGGAGAGAGACAAGAGAGGGAGGTGGGAGGGGTGCATCTCACCTATCAAATCAACAGACACGTCCATGTTCCTCAAGATCCAGTCAAACCATTCCGACAGAACTACATAGTCCACTTCTGGCATCTTCCCACTGCAATGAGAGTTGTAAGGGCTTATTCACCTAAGAGAAAACTTCTGGGCTATGCAATTCCCCCAAAAGGATCTTGAGACGGCTCTCAATGAAAGGAGTCACCAAGGGTACCAGGGCACAGTGTGATCCGTGCAATACTGGACATGCAGTGACAAGGACCCTAAGCATTCCCGACCTCCTGCTGCCTGGGAGCGGCTTATGGCACAATGCTGCAAGGGCCATGGCACGGAGTGATGGGAGAATTCACTTGGGATTGGAACTCTAAGCAGAGAAAGGGACTTTAAAGCTTGTACCCTGAGAACAGAGACAGTGCTCAGGTTAGGCAATGAATCAGCAAACCAATTTCACTTCTAGAAATTTATTTTGTGGACCAGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGAGGATCACTTGAGGCCAGAAGTTCAAGATCTGCCTGGGCAACATGGAAAGACCCCCATCTCTACAAAAACTACAAAAAAATTAACTAGGGGTGGTGGCGCATGCCTATGGTCCTAGCTACTCGGGAAACTGAGGCAGGTGGATCACTTGAGCCCAGGGGTTTAAGGCTGTAGTGGGTCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCTGACTCAAACAAAACAAAAAAATTTATTTTGTGAAAATAATCATGATGCTCACCGCGGCACTGTTTAAACCAATAAAAAACTAAATCTTGGTAAATCTATATAACAGAAAATTCACGCAGTAACTGAAGGATGATATTGTAAAATAATATTTAATGGCATGGAAAAATTTCAAATCTAATGTTCAGTGAAAGCAACAGGATCTAAAACTGTGTATATCCCAACCACATTTCCAAAAGTATTCACCAATGCATCTTGGAAAGGTGGGAAAGAAAAATATCAAAATGTAAAAAGTGCTTTTCTCAAGCTGCAGGACTACATGAGACTTTTCTTTTTTTCTTTATACCTTTTTGTATTTTCCAAATTTTAACAACACATTACTTCTCAAATCAGCAGTGGGAGTTGGGGAGCATTACTACATATTTTAGTTTTTATTTATTTTTTTTTTTTATTTTTTGAGACGTAGTGTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAAGCTCCGCCCCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTATTTTTTATTTTTTTAAGACAGAGTTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCAC
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CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTATAAACAAATAGTGTCAGTATGCTGTCCTAAGGCCCATGATCACAGAAAGCCAGGGGGTGGGTTTGGGGGGGGTTACAATGGAAGGAAGGTCAGGGGTGGCTTCCTGGAGGAGGTGACATCTGAGTAACACTTTAAAGACAAAGGAAACGACTGTGCAAAGGCACATTTGCATAACTCCACTGTGTATGTGGTTGTTTGTGTGTGGCCACAACTAGTTCCTTATAGCCAGAGCATAGAAAGTAGGGAATGGAGGATGATAACGCCAGAGAGGCAGTTGGGGCCGGGTCATAAGCCGTATTACAAAGTGGGGACTGCATTCTAGCCAGCAGCAAGGCACTGAAAGGTTCTGGGCTGGGAAATTGCACGAGTGGTGATGAGTATTGGAAATATCAGCCGGGCGGCAGCCTGGAGGCCAGATTTTGAAGGGAGATGCAAGGAGGGAAGGGCCAGGGCGAGATGCACAGCCCGGGCCTATACTGGCAGAGTCCCCATGAGAGTCAGTGTGGCCTGAGCAGAACTCAGAAGGGCATGGCATCTCTCCAGTGGGCAAACACCACTAAGCATGAGCACCGCCTCCGTGCCGGGCACTGTGCTAAGCACTAGGGATGCAGCAGTGAACAAGAGGGCTGGGTCCTGCCCTCCTGGAACTCGCATTCTAGGGAGGACACAGAGAGCACAAGGCCAGGCAATCTTCAGGAGGCAGAACAGACAAGCCCTGGTGCTGCCAAGATGGGGAGGGGCAGGTGGGGAGGGGAGGGGAACGCCTCCAAGCAGGAGGGTTGCCAAACTGTGAGTCAGCGACCACAGGAAGCCAAGCAGATCTGGACATCCACGTGGGTCTCTGGCCAAACAGGAAGTCAGAGTTCACCCTCTGATACACTTGGTTCCTGTTCTCTCTCTGCAAACAAGGGCACAATGATCTCATGGGGGTGGGGCCGGGAGAGGAAGCCGGGTTGGACAGAGGTGGTTTCCCAGTTTGTCTTTAACCAAGTCAAAGAGGCCTCTTACCAGCGGAATGACCTTCTCCTCTTCCCTGCATCTCTTCTTTAACCTCTGGTAACAAGTCTCAGGATTGGTCCAAAGGTAAACTGAGGTTAAAAGAATACGTGGCTCTCAGGACTCTGCTCATGGCTTGGAAGCAAAGCAGGCACACAGGCAAAGGCGGGAGGAAGGTCTGCACAGCTCGAGCAGGAAGCAGGGAGGGCCAGCTCTTGGCTTGACCACTGACCCTCCGCCTCGACTTTCATTCTCTTTCAGTGTCAGCGGCCCCGTGGGGTCGTTTTGAGGCTGAATGGGATTCTGTTCATAGACAGAGCTCAAAACAGGCCTCACACCCAGCAGGTCTCAGTGAATGTTCAGGCTCTGTCCTTCCTGTTCCTTTGCAAACTAGAAAAACCCATCAGATCACAGTGGATTTGGGTCTGAAAGTAGCTGAGCCAGGGAGGGAAGTTTAAAGAACAAAGGCCAGGGTTCTTCTCCATGAGAGACCAGAAGTCCCGAATTCTGTCTGCCCTCAGGGAGAAAGCTGAACTCCCATGGGGAAGGAACTGCCAAGGGCAAGTGCCTCACCCACTGCCCCCAAGGGTTGGGGCCCAGCCAAGCACATCCTCAAGGGACCCAGGAGAGAGACAAGAGAGGGAGGTGGGAGGGGTGCATCTCACCTATCAAATCAACAGACACGTCCATGTTCCTCAAGATCCAGTCAAACCATTCCGACAGAACTACATAGTCCACTTCTGGCATCTTCCCACTGCAATGAGAGTTGTAAGGGCTTATTCACCTAAGAGAAAACTTCTGGGCTATGCAATTCCCCCAAAAGGATCTTGAGACGGCTCTCAATGAAAGGAGTCACCAAGGGTACCAGGGCACAGTGTGATCCGTGCAATACTGGACATGCAGTGACAAGGACCCTAAGCATTCCCGACCTCCTGCTGCCTGGGAGCGGCTTATGGCACAATGCTGCAAGGGCCATGGCACGGAGTGATGGGAGAATTCACTTGGGATTGGAACTCTAAGCAGAGAAAGGGACTTTAAAGCTTGTACCCTGAGAACAGAGACAGTGCTCAGGTTAGGCAATGAATCAGCAAACCAATTTCACTTCTAGAAATTTATTTTGTGGACCAGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGAGGATCACTTGAGGCCAGAAGTTCAAGATCTGCCTGGGCAACATGGAAAGACCCCCATCTCTACAAAAACTACAAAAAAATTAACTAGGGGTGGTGGCGCATGCCTATGGTCCTAGCTACTCGGGAAACTGAGGCAGGTGGATCACTTGAGCCCAGGGGTTTAAGGCTGTAGTGGGTCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCTGACTCAAACAAAACAAAAAAATTTATTTTGTGAAAATAATCATGATGCTCACCGCGGCACTGTTTAAACCAATAAAAAACTAAATCTTGGTAAATCTATATAACAGAAAATTCACGCAGTAACTGAAGGATGATATTGTAAAATAATATTTAATGGCATGGAAAAATTTCAAATCTAATGTTCAGTGAAAGCAACAGGATCTAAAACTGTGTATATCCCAACCACATTTCCAAAAGTATTCACCAATGCATCTTGGAAAGGTGGGAAAGAAAAATATCAAAATGTAAAAAGTGCTTTTCTCAAGCTGCAGGACTACATGAGACTTTTCTTTTTTTCTTTATACCTTTTTGTATTTTCCAAATTTTAACAACACATTACTTCTCAAATCAGCAGTGGGAGTTGGGGAGCATTACTACATATTTTAGTTTTTATTTATTTTTTTTTTTTATTTTTTGAGACGTAGTGTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAAGCTCCGCCCCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTATTTTTTATTTTTTTAAGACAGAGTTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCAC
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Task1_train_22780
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This variant impacts the gene TK2 (thymidine kinase 2) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form
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CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTATAAACAAATAGTGTCAGTATGCTGTCCTAAGGCCCATGATCACAGAAAGCCAGGGGGTGGGTTTGGGGGGGGTTACAATGGAAGGAAGGTCAGGGGTGGCTTCCTGGAGGAGGTGACATCTGAGTAACACTTTAAAGACAAAGGAAACGACTGTGCAAAGGCACATTTGCATAACTCCACTGTGTATGTGGTTGTTTGTGTGTGGCCACAACTAGTTCCTTATAGCCAGAGCATAGAAAGTAGGGAATGGAGGATGATAACGCCAGAGAGGCAGTTGGGGCCGGGTCATAAGCCGTATTACAAAGTGGGGACTGCATTCTAGCCAGCAGCAAGGCACTGAAAGGTTCTGGGCTGGGAAATTGCACGAGTGGTGATGAGTATTGGAAATATCAGCCGGGCGGCAGCCTGGAGGCCAGATTTTGAAGGGAGATGCAAGGAGGGAAGGGCCAGGGCGAGATGCACAGCCCGGGCCTATACTGGCAGAGTCCCCATGAGAGTCAGTGTGGCCTGAGCAGAACTCAGAAGGGCATGGCATCTCTCCAGTGGGCAAACACCACTAAGCATGAGCACCGCCTCCGTGCCGGGCACTGTGCTAAGCACTAGGGATGCAGCAGTGAACAAGAGGGCTGGGTCCTGCCCTCCTGGAACTCGCATTCTAGGGAGGACACAGAGAGCACAAGGCCAGGCAATCTTCAGGAGGCAGAACAGACAAGCCCTGGTGCTGCCAAGATGGGGAGGGGCAGGTGGGGAGGGGAGGGGAACGCCTCCAAGCAGGAGGGTTGCCAAACTGTGAGTCAGCGACCACAGGAAGCCAAGCAGATCTGGACATCCACGTGGGTCTCTGGCCAAACAGGAAGTCAGAGTTCACCCTCTGATACACTTGGTTCCTGTTCTCTCTCTGCAAACAAGGGCACAATGATCTCATGGGGGTGGGGCCGGGAGAGGAAGCCGGGTTGGACAGAGGTGGTTTCCCAGTTTGTCTTTAACCAAGTCAAAGAGGCCTCTTACCAGCGGAATGACCTTCTCCTCTTCCCTGCATCTCTTCTTTAACCTCTGGTAACAAGTCTCAGGATTGGTCCGAAGGTAAACTGAGGTTAAAAGAATACGTGGCTCTCAGGACTCTGCTCATGGCTTGGAAGCAAAGCAGGCACACAGGCAAAGGCGGGAGGAAGGTCTGCACAGCTCGAGCAGGAAGCAGGGAGGGCCAGCTCTTGGCTTGACCACTGACCCTCCGCCTCGACTTTCATTCTCTTTCAGTGTCAGCGGCCCCGTGGGGTCGTTTTGAGGCTGAATGGGATTCTGTTCATAGACAGAGCTCAAAACAGGCCTCACACCCAGCAGGTCTCAGTGAATGTTCAGGCTCTGTCCTTCCTGTTCCTTTGCAAACTAGAAAAACCCATCAGATCACAGTGGATTTGGGTCTGAAAGTAGCTGAGCCAGGGAGGGAAGTTTAAAGAACAAAGGCCAGGGTTCTTCTCCATGAGAGACCAGAAGTCCCGAATTCTGTCTGCCCTCAGGGAGAAAGCTGAACTCCCATGGGGAAGGAACTGCCAAGGGCAAGTGCCTCACCCACTGCCCCCAAGGGTTGGGGCCCAGCCAAGCACATCCTCAAGGGACCCAGGAGAGAGACAAGAGAGGGAGGTGGGAGGGGTGCATCTCACCTATCAAATCAACAGACACGTCCATGTTCCTCAAGATCCAGTCAAACCATTCCGACAGAACTACATAGTCCACTTCTGGCATCTTCCCACTGCAATGAGAGTTGTAAGGGCTTATTCACCTAAGAGAAAACTTCTGGGCTATGCAATTCCCCCAAAAGGATCTTGAGACGGCTCTCAATGAAAGGAGTCACCAAGGGTACCAGGGCACAGTGTGATCCGTGCAATACTGGACATGCAGTGACAAGGACCCTAAGCATTCCCGACCTCCTGCTGCCTGGGAGCGGCTTATGGCACAATGCTGCAAGGGCCATGGCACGGAGTGATGGGAGAATTCACTTGGGATTGGAACTCTAAGCAGAGAAAGGGACTTTAAAGCTTGTACCCTGAGAACAGAGACAGTGCTCAGGTTAGGCAATGAATCAGCAAACCAATTTCACTTCTAGAAATTTATTTTGTGGACCAGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGAGGATCACTTGAGGCCAGAAGTTCAAGATCTGCCTGGGCAACATGGAAAGACCCCCATCTCTACAAAAACTACAAAAAAATTAACTAGGGGTGGTGGCGCATGCCTATGGTCCTAGCTACTCGGGAAACTGAGGCAGGTGGATCACTTGAGCCCAGGGGTTTAAGGCTGTAGTGGGTCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCTGACTCAAACAAAACAAAAAAATTTATTTTGTGAAAATAATCATGATGCTCACCGCGGCACTGTTTAAACCAATAAAAAACTAAATCTTGGTAAATCTATATAACAGAAAATTCACGCAGTAACTGAAGGATGATATTGTAAAATAATATTTAATGGCATGGAAAAATTTCAAATCTAATGTTCAGTGAAAGCAACAGGATCTAAAACTGTGTATATCCCAACCACATTTCCAAAAGTATTCACCAATGCATCTTGGAAAGGTGGGAAAGAAAAATATCAAAATGTAAAAAGTGCTTTTCTCAAGCTGCAGGACTACATGAGACTTTTCTTTTTTTCTTTATACCTTTTTGTATTTTCCAAATTTTAACAACACATTACTTCTCAAATCAGCAGTGGGAGTTGGGGAGCATTACTACATATTTTAGTTTTTATTTATTTTTTTTTTTTATTTTTTGAGACGTAGTGTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAAGCTCCGCCCCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTATTTTTTATTTTTTTAAGACAGAGTTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCAC
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CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTATAAACAAATAGTGTCAGTATGCTGTCCTAAGGCCCATGATCACAGAAAGCCAGGGGGTGGGTTTGGGGGGGGTTACAATGGAAGGAAGGTCAGGGGTGGCTTCCTGGAGGAGGTGACATCTGAGTAACACTTTAAAGACAAAGGAAACGACTGTGCAAAGGCACATTTGCATAACTCCACTGTGTATGTGGTTGTTTGTGTGTGGCCACAACTAGTTCCTTATAGCCAGAGCATAGAAAGTAGGGAATGGAGGATGATAACGCCAGAGAGGCAGTTGGGGCCGGGTCATAAGCCGTATTACAAAGTGGGGACTGCATTCTAGCCAGCAGCAAGGCACTGAAAGGTTCTGGGCTGGGAAATTGCACGAGTGGTGATGAGTATTGGAAATATCAGCCGGGCGGCAGCCTGGAGGCCAGATTTTGAAGGGAGATGCAAGGAGGGAAGGGCCAGGGCGAGATGCACAGCCCGGGCCTATACTGGCAGAGTCCCCATGAGAGTCAGTGTGGCCTGAGCAGAACTCAGAAGGGCATGGCATCTCTCCAGTGGGCAAACACCACTAAGCATGAGCACCGCCTCCGTGCCGGGCACTGTGCTAAGCACTAGGGATGCAGCAGTGAACAAGAGGGCTGGGTCCTGCCCTCCTGGAACTCGCATTCTAGGGAGGACACAGAGAGCACAAGGCCAGGCAATCTTCAGGAGGCAGAACAGACAAGCCCTGGTGCTGCCAAGATGGGGAGGGGCAGGTGGGGAGGGGAGGGGAACGCCTCCAAGCAGGAGGGTTGCCAAACTGTGAGTCAGCGACCACAGGAAGCCAAGCAGATCTGGACATCCACGTGGGTCTCTGGCCAAACAGGAAGTCAGAGTTCACCCTCTGATACACTTGGTTCCTGTTCTCTCTCTGCAAACAAGGGCACAATGATCTCATGGGGGTGGGGCCGGGAGAGGAAGCCGGGTTGGACAGAGGTGGTTTCCCAGTTTGTCTTTAACCAAGTCAAAGAGGCCTCTTACCAGCGGAATGACCTTCTCCTCTTCCCTGCATCTCTTCTTTAACCTCTGGTAACAAGTCTCAGGATTGGTCCAAAGGTAAACTGAGGTTAAAAGAATACGTGGCTCTCAGGACTCTGCTCATGGCTTGGAAGCAAAGCAGGCACACAGGCAAAGGCGGGAGGAAGGTCTGCACAGCTCGAGCAGGAAGCAGGGAGGGCCAGCTCTTGGCTTGACCACTGACCCTCCGCCTCGACTTTCATTCTCTTTCAGTGTCAGCGGCCCCGTGGGGTCGTTTTGAGGCTGAATGGGATTCTGTTCATAGACAGAGCTCAAAACAGGCCTCACACCCAGCAGGTCTCAGTGAATGTTCAGGCTCTGTCCTTCCTGTTCCTTTGCAAACTAGAAAAACCCATCAGATCACAGTGGATTTGGGTCTGAAAGTAGCTGAGCCAGGGAGGGAAGTTTAAAGAACAAAGGCCAGGGTTCTTCTCCATGAGAGACCAGAAGTCCCGAATTCTGTCTGCCCTCAGGGAGAAAGCTGAACTCCCATGGGGAAGGAACTGCCAAGGGCAAGTGCCTCACCCACTGCCCCCAAGGGTTGGGGCCCAGCCAAGCACATCCTCAAGGGACCCAGGAGAGAGACAAGAGAGGGAGGTGGGAGGGGTGCATCTCACCTATCAAATCAACAGACACGTCCATGTTCCTCAAGATCCAGTCAAACCATTCCGACAGAACTACATAGTCCACTTCTGGCATCTTCCCACTGCAATGAGAGTTGTAAGGGCTTATTCACCTAAGAGAAAACTTCTGGGCTATGCAATTCCCCCAAAAGGATCTTGAGACGGCTCTCAATGAAAGGAGTCACCAAGGGTACCAGGGCACAGTGTGATCCGTGCAATACTGGACATGCAGTGACAAGGACCCTAAGCATTCCCGACCTCCTGCTGCCTGGGAGCGGCTTATGGCACAATGCTGCAAGGGCCATGGCACGGAGTGATGGGAGAATTCACTTGGGATTGGAACTCTAAGCAGAGAAAGGGACTTTAAAGCTTGTACCCTGAGAACAGAGACAGTGCTCAGGTTAGGCAATGAATCAGCAAACCAATTTCACTTCTAGAAATTTATTTTGTGGACCAGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGAGGATCACTTGAGGCCAGAAGTTCAAGATCTGCCTGGGCAACATGGAAAGACCCCCATCTCTACAAAAACTACAAAAAAATTAACTAGGGGTGGTGGCGCATGCCTATGGTCCTAGCTACTCGGGAAACTGAGGCAGGTGGATCACTTGAGCCCAGGGGTTTAAGGCTGTAGTGGGTCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCTGACTCAAACAAAACAAAAAAATTTATTTTGTGAAAATAATCATGATGCTCACCGCGGCACTGTTTAAACCAATAAAAAACTAAATCTTGGTAAATCTATATAACAGAAAATTCACGCAGTAACTGAAGGATGATATTGTAAAATAATATTTAATGGCATGGAAAAATTTCAAATCTAATGTTCAGTGAAAGCAACAGGATCTAAAACTGTGTATATCCCAACCACATTTCCAAAAGTATTCACCAATGCATCTTGGAAAGGTGGGAAAGAAAAATATCAAAATGTAAAAAGTGCTTTTCTCAAGCTGCAGGACTACATGAGACTTTTCTTTTTTTCTTTATACCTTTTTGTATTTTCCAAATTTTAACAACACATTACTTCTCAAATCAGCAGTGGGAGTTGGGGAGCATTACTACATATTTTAGTTTTTATTTATTTTTTTTTTTTATTTTTTGAGACGTAGTGTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAAGCTCCGCCCCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTATTTTTTATTTTTTTAAGACAGAGTTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCAC
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Task1_train_22781
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This variant lies on Chromosome 16 and affects the gene TK2 (thymidine kinase 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Mitochondrial disease
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CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTATAAACAAATAGTGTCAGTATGCTGTCCTAAGGCCCATGATCACAGAAAGCCAGGGGGTGGGTTTGGGGGGGGTTACAATGGAAGGAAGGTCAGGGGTGGCTTCCTGGAGGAGGTGACATCTGAGTAACACTTTAAAGACAAAGGAAACGACTGTGCAAAGGCACATTTGCATAACTCCACTGTGTATGTGGTTGTTTGTGTGTGGCCACAACTAGTTCCTTATAGCCAGAGCATAGAAAGTAGGGAATGGAGGATGATAACGCCAGAGAGGCAGTTGGGGCCGGGTCATAAGCCGTATTACAAAGTGGGGACTGCATTCTAGCCAGCAGCAAGGCACTGAAAGGTTCTGGGCTGGGAAATTGCACGAGTGGTGATGAGTATTGGAAATATCAGCCGGGCGGCAGCCTGGAGGCCAGATTTTGAAGGGAGATGCAAGGAGGGAAGGGCCAGGGCGAGATGCACAGCCCGGGCCTATACTGGCAGAGTCCCCATGAGAGTCAGTGTGGCCTGAGCAGAACTCAGAAGGGCATGGCATCTCTCCAGTGGGCAAACACCACTAAGCATGAGCACCGCCTCCGTGCCGGGCACTGTGCTAAGCACTAGGGATGCAGCAGTGAACAAGAGGGCTGGGTCCTGCCCTCCTGGAACTCGCATTCTAGGGAGGACACAGAGAGCACAAGGCCAGGCAATCTTCAGGAGGCAGAACAGACAAGCCCTGGTGCTGCCAAGATGGGGAGGGGCAGGTGGGGAGGGGAGGGGAACGCCTCCAAGCAGGAGGGTTGCCAAACTGTGAGTCAGCGACCACAGGAAGCCAAGCAGATCTGGACATCCACGTGGGTCTCTGGCCAAACAGGAAGTCAGAGTTCACCCTCTGATACACTTGGTTCCTGTTCTCTCTCTGCAAACAAGGGCACAATGATCTCATGGGGGTGGGGCCGGGAGAGGAAGCCGGGTTGGACAGAGGTGGTTTCCCAGTTTGTCTTTAACCAAGTCAAAGAGGCCTCTTACCAGCGGAATGACCTTCTCCTCTTCCCTGCATCTCTTCTTTAACCTCTGGTAACAAGTCTCAGGATTGGTCCGAAGGTAAACTGAGGTTAAAAGAATACGTGGCTCTCAGGACTCTGCTCATGGCTTGGAAGCAAAGCAGGCACACAGGCAAAGGCGGGAGGAAGGTCTGCACAGCTCGAGCAGGAAGCAGGGAGGGCCAGCTCTTGGCTTGACCACTGACCCTCCGCCTCGACTTTCATTCTCTTTCAGTGTCAGCGGCCCCGTGGGGTCGTTTTGAGGCTGAATGGGATTCTGTTCATAGACAGAGCTCAAAACAGGCCTCACACCCAGCAGGTCTCAGTGAATGTTCAGGCTCTGTCCTTCCTGTTCCTTTGCAAACTAGAAAAACCCATCAGATCACAGTGGATTTGGGTCTGAAAGTAGCTGAGCCAGGGAGGGAAGTTTAAAGAACAAAGGCCAGGGTTCTTCTCCATGAGAGACCAGAAGTCCCGAATTCTGTCTGCCCTCAGGGAGAAAGCTGAACTCCCATGGGGAAGGAACTGCCAAGGGCAAGTGCCTCACCCACTGCCCCCAAGGGTTGGGGCCCAGCCAAGCACATCCTCAAGGGACCCAGGAGAGAGACAAGAGAGGGAGGTGGGAGGGGTGCATCTCACCTATCAAATCAACAGACACGTCCATGTTCCTCAAGATCCAGTCAAACCATTCCGACAGAACTACATAGTCCACTTCTGGCATCTTCCCACTGCAATGAGAGTTGTAAGGGCTTATTCACCTAAGAGAAAACTTCTGGGCTATGCAATTCCCCCAAAAGGATCTTGAGACGGCTCTCAATGAAAGGAGTCACCAAGGGTACCAGGGCACAGTGTGATCCGTGCAATACTGGACATGCAGTGACAAGGACCCTAAGCATTCCCGACCTCCTGCTGCCTGGGAGCGGCTTATGGCACAATGCTGCAAGGGCCATGGCACGGAGTGATGGGAGAATTCACTTGGGATTGGAACTCTAAGCAGAGAAAGGGACTTTAAAGCTTGTACCCTGAGAACAGAGACAGTGCTCAGGTTAGGCAATGAATCAGCAAACCAATTTCACTTCTAGAAATTTATTTTGTGGACCAGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGAGGATCACTTGAGGCCAGAAGTTCAAGATCTGCCTGGGCAACATGGAAAGACCCCCATCTCTACAAAAACTACAAAAAAATTAACTAGGGGTGGTGGCGCATGCCTATGGTCCTAGCTACTCGGGAAACTGAGGCAGGTGGATCACTTGAGCCCAGGGGTTTAAGGCTGTAGTGGGTCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCTGACTCAAACAAAACAAAAAAATTTATTTTGTGAAAATAATCATGATGCTCACCGCGGCACTGTTTAAACCAATAAAAAACTAAATCTTGGTAAATCTATATAACAGAAAATTCACGCAGTAACTGAAGGATGATATTGTAAAATAATATTTAATGGCATGGAAAAATTTCAAATCTAATGTTCAGTGAAAGCAACAGGATCTAAAACTGTGTATATCCCAACCACATTTCCAAAAGTATTCACCAATGCATCTTGGAAAGGTGGGAAAGAAAAATATCAAAATGTAAAAAGTGCTTTTCTCAAGCTGCAGGACTACATGAGACTTTTCTTTTTTTCTTTATACCTTTTTGTATTTTCCAAATTTTAACAACACATTACTTCTCAAATCAGCAGTGGGAGTTGGGGAGCATTACTACATATTTTAGTTTTTATTTATTTTTTTTTTTTATTTTTTGAGACGTAGTGTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAAGCTCCGCCCCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTATTTTTTATTTTTTTAAGACAGAGTTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCAC
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CAATAAATACTAAAAAAAAAAAAAAAGGCAGGACCCACACCTGGCTTCTCCCATTTACTGCCACTTTTGCAGCAGCAGGGCCTCAGTTCCTTCAGGCAGGGGCCCAGCCCTGGGCAGCCTCTAAACCCTCCGCTCTGTCTTGCCACCAAGAGGACTGTGACCCTCACCCATTGCCCTTCTACCCCCTCAACAACTCGTAACCTATAGACCCTCCAGACTATAAAGACCACCAACTGCAGAAAGCCTGATGCAGCGGAGCCCAAGGGAAAAGGGGCACAGGCCCTCCTGAGCCATGGGGCCTGCATGCCAGGCAGAGCAGATACTCGTGCTCTCCCAGGCACAGAGTGGGATGGCTCCTCACACAGATTCCACTCGCCATCCCAGAGGCTCGCGTGTCAACTCTGCAGCAGCCTTTACATCTCCTGCCCAGCTCTCCCTTGGCAATAGGAGCCAGATGTGTCCCATGGACCTGGTCAAACCCTTAAGACAATGGCTTGGATCACGGCTTGGACGGCCCCCAGGCTTGGGGAGCATCTGGGTCACTGCACAGAGCTGCTGTGCGCATCACAGCATGGTCCAGCCTGGCCCCATTCCACCACATTCCATCTTCCTAGCATTCTTGTCTCCAAGATTTCAAAGGAGCTGCCCAGAGTGACGCCTGGGCCCTCGTGGCAGGAATGCATCGTGCTGGCACCAAGGAAAAACAAGGCTGAGCAGGATTTCAGGAGTTGGATAGGCTTCCCAGGGCCCCCAGTCCAGCCTATCCTGAGCTCAGAGCCCCTGACACCCCACTGAATGCTTGCCCAGCCTCTGTCTCCCTCCAGTGGCAGCTTCTCACATGGGACATTCAGTTCAATACTAACTGAGCAACTACTAGGCACCAGGCCCCAAGGCACATGCAGAGGACACGGAGGGAATAAGACCCAATCTTAAAAAGCTCACATTAGTGAGGGATGGGGAACAAAGGTATAAACAAATAGTGTCAGTATGCTGTCCTAAGGCCCATGATCACAGAAAGCCAGGGGGTGGGTTTGGGGGGGGTTACAATGGAAGGAAGGTCAGGGGTGGCTTCCTGGAGGAGGTGACATCTGAGTAACACTTTAAAGACAAAGGAAACGACTGTGCAAAGGCACATTTGCATAACTCCACTGTGTATGTGGTTGTTTGTGTGTGGCCACAACTAGTTCCTTATAGCCAGAGCATAGAAAGTAGGGAATGGAGGATGATAACGCCAGAGAGGCAGTTGGGGCCGGGTCATAAGCCGTATTACAAAGTGGGGACTGCATTCTAGCCAGCAGCAAGGCACTGAAAGGTTCTGGGCTGGGAAATTGCACGAGTGGTGATGAGTATTGGAAATATCAGCCGGGCGGCAGCCTGGAGGCCAGATTTTGAAGGGAGATGCAAGGAGGGAAGGGCCAGGGCGAGATGCACAGCCCGGGCCTATACTGGCAGAGTCCCCATGAGAGTCAGTGTGGCCTGAGCAGAACTCAGAAGGGCATGGCATCTCTCCAGTGGGCAAACACCACTAAGCATGAGCACCGCCTCCGTGCCGGGCACTGTGCTAAGCACTAGGGATGCAGCAGTGAACAAGAGGGCTGGGTCCTGCCCTCCTGGAACTCGCATTCTAGGGAGGACACAGAGAGCACAAGGCCAGGCAATCTTCAGGAGGCAGAACAGACAAGCCCTGGTGCTGCCAAGATGGGGAGGGGCAGGTGGGGAGGGGAGGGGAACGCCTCCAAGCAGGAGGGTTGCCAAACTGTGAGTCAGCGACCACAGGAAGCCAAGCAGATCTGGACATCCACGTGGGTCTCTGGCCAAACAGGAAGTCAGAGTTCACCCTCTGATACACTTGGTTCCTGTTCTCTCTCTGCAAACAAGGGCACAATGATCTCATGGGGGTGGGGCCGGGAGAGGAAGCCGGGTTGGACAGAGGTGGTTTCCCAGTTTGTCTTTAACCAAGTCAAAGAGGCCTCTTACCAGCGGAATGACCTTCTCCTCTTCCCTGCATCTCTTCTTTAACCTCTGGTAACAAGTCTCAGGATTGGTCCAAAGGTAAACTGAGGTTAAAAGAATACGTGGCTCTCAGGACTCTGCTCATGGCTTGGAAGCAAAGCAGGCACACAGGCAAAGGCGGGAGGAAGGTCTGCACAGCTCGAGCAGGAAGCAGGGAGGGCCAGCTCTTGGCTTGACCACTGACCCTCCGCCTCGACTTTCATTCTCTTTCAGTGTCAGCGGCCCCGTGGGGTCGTTTTGAGGCTGAATGGGATTCTGTTCATAGACAGAGCTCAAAACAGGCCTCACACCCAGCAGGTCTCAGTGAATGTTCAGGCTCTGTCCTTCCTGTTCCTTTGCAAACTAGAAAAACCCATCAGATCACAGTGGATTTGGGTCTGAAAGTAGCTGAGCCAGGGAGGGAAGTTTAAAGAACAAAGGCCAGGGTTCTTCTCCATGAGAGACCAGAAGTCCCGAATTCTGTCTGCCCTCAGGGAGAAAGCTGAACTCCCATGGGGAAGGAACTGCCAAGGGCAAGTGCCTCACCCACTGCCCCCAAGGGTTGGGGCCCAGCCAAGCACATCCTCAAGGGACCCAGGAGAGAGACAAGAGAGGGAGGTGGGAGGGGTGCATCTCACCTATCAAATCAACAGACACGTCCATGTTCCTCAAGATCCAGTCAAACCATTCCGACAGAACTACATAGTCCACTTCTGGCATCTTCCCACTGCAATGAGAGTTGTAAGGGCTTATTCACCTAAGAGAAAACTTCTGGGCTATGCAATTCCCCCAAAAGGATCTTGAGACGGCTCTCAATGAAAGGAGTCACCAAGGGTACCAGGGCACAGTGTGATCCGTGCAATACTGGACATGCAGTGACAAGGACCCTAAGCATTCCCGACCTCCTGCTGCCTGGGAGCGGCTTATGGCACAATGCTGCAAGGGCCATGGCACGGAGTGATGGGAGAATTCACTTGGGATTGGAACTCTAAGCAGAGAAAGGGACTTTAAAGCTTGTACCCTGAGAACAGAGACAGTGCTCAGGTTAGGCAATGAATCAGCAAACCAATTTCACTTCTAGAAATTTATTTTGTGGACCAGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGAGGATCACTTGAGGCCAGAAGTTCAAGATCTGCCTGGGCAACATGGAAAGACCCCCATCTCTACAAAAACTACAAAAAAATTAACTAGGGGTGGTGGCGCATGCCTATGGTCCTAGCTACTCGGGAAACTGAGGCAGGTGGATCACTTGAGCCCAGGGGTTTAAGGCTGTAGTGGGTCATGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCTGACTCAAACAAAACAAAAAAATTTATTTTGTGAAAATAATCATGATGCTCACCGCGGCACTGTTTAAACCAATAAAAAACTAAATCTTGGTAAATCTATATAACAGAAAATTCACGCAGTAACTGAAGGATGATATTGTAAAATAATATTTAATGGCATGGAAAAATTTCAAATCTAATGTTCAGTGAAAGCAACAGGATCTAAAACTGTGTATATCCCAACCACATTTCCAAAAGTATTCACCAATGCATCTTGGAAAGGTGGGAAAGAAAAATATCAAAATGTAAAAAGTGCTTTTCTCAAGCTGCAGGACTACATGAGACTTTTCTTTTTTTCTTTATACCTTTTTGTATTTTCCAAATTTTAACAACACATTACTTCTCAAATCAGCAGTGGGAGTTGGGGAGCATTACTACATATTTTAGTTTTTATTTATTTTTTTTTTTTATTTTTTGAGACGTAGTGTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAAGCTCCGCCCCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTATTTTTTATTTTTTTAAGACAGAGTTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCAC
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Task1_train_22782
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An alteration has been detected in TK2 (thymidine kinase 2) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form
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TACAGTTCTAATCAGAGCAGTACACAAACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCGACCTCTCCATCAACCGTACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGG
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TACAGTTCTAATCAGAGCAGTACACAAACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCTCTGTGAATCGACCTCTCCATCAACCGTACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGG
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Task1_train_22783
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A variant was discovered in gene TK2 (thymidine kinase 2), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Mitochondrial disease
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ATCAGAGCAGTACACAAACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCGACCTCTCCATCAACCGTACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTT
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ATCAGAGCAGTACACAAACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCAACCTCTCCATCAACCGTACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTT
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Task1_train_22784
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This alteration occurs within gene TK2 (thymidine kinase 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
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Pathogenic; Mitochondrial DNA depletion syndrome
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AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCGACCTCTCCATCAACCGTACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTT
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AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCGACCTCTCCATCAACCATACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTT
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Task1_train_22785
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Given a variant located on Chromosome 16 and affecting TK2 (thymidine kinase 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form
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AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCGACCTCTCCATCAACCGTACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTT
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AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCGACCTCTCCATCAACCATACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTT
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Task1_train_22786
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Gene TK2 (thymidine kinase 2) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Mitochondrial disease
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AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCGACCTCTCCATCAACCGTACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTT
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AACATAACAGAGGCTCCCTTCTGCTCTCGCTCTCCTCTGTCCTGCCTGTCCTCCCTCTGGCTGAGGTGCTAAGGAGCAGGAGCTGAGGACCGCAGAGGGCTGGATAAACCTAGCAGTGGACACCTGGAAACCCAGGTTGTCAGGTGAAAATGGGGCCGTAAGGTCAGGAATGCCACCTGCTCAGAGGGCAAGCTGCAGCCCACAAGAAAAGTCTGAGGCCAGGGGGCAAAGCCACGGCCAGGACTCACCTTGGCTGCCAGCCCCTGAGCCCACAGCATTGCTCTGATGCTCTGGGTGGATTTGGGGCAGAGGCTCTCATTTTGGGGGGTGACACAGGCTCAAAGGCATGATCCATGGCAGCTCAGGGCTCCTAGGAGAAGCCTTTTTAGTGGCCCCTCAAATGAAAGGTGCAAAACAGTGGGGGACCAGAGCCTGGGGAACAAGTTGGGCTGGAGACCAAAGCACAGCCACAGGTCCCCTCATCCAACAATAGCTAACAGGTATCAACGAGGAGCCTGCTCTGTGCTGGGTCCACCCTAGGCAAGGACAACAAACTTGGTGCCTGCCCTTAGGAGCTTATGGTCCGGGGGGGTGGGTGGCAATAAACAATTAGACACATACTAAGTTGAACCACACAAAACTGCCATTTTTGTAGGTCATAATTGGTTAAACAATTTCATATGATTGCCTTAAATACTACAAAGAAAACTAACAGAAAGTAGTCCTTAAGAATAACAAGGGGACCAGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAATATGACGAAATCCTGCCTCTACTAAAAATACAAAAAAAATAGCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACGATGGCTTGAGCCTGAGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCCCCGTACTCCAGCTTGGGTGATAGAGCCAGACCCTGCCTCAAAAAACAAAAACCAAAACCAAAAACGAAACAAAGACTAACAAGGAGCTTGCCCTATCTAGACAGCGTGGTCGGGGAGGGCTGGGAGACAGGGTGGCATTTAGGAAGACAGCTGCAGATGAGAGTGGGAGGAAGGGCCTCCAGCGTTGACATCCGAACAGCTCTGCGAGGGAAGGACAGCAGTATCCCAAGCTCGCGGCAGGGACAGGTGGGGTCTGCAACCCATTTCCAAGACCCCTAGAAATCGGCAGTCTCTGAGCACAGGGATGGAGGGCCCCATGCCTGAGCCCTTGGCACTGACAGGCCACCAGAAGCCCCTAACTAGGTATACATCACAGAGTCTGCTCTCATGAGGGAAGCTTTTAGTGAAAAACACAACAAATGCGACGCACACTGTGCGTCTGACTCGCCCAACTCTCCACCCTTCCCTTTAGCCTTGTACCATGCTGTGTAACTCACTGGACCCTCCCACCTTTCCACCCTGGGCTCATGTGACCATGTGATCTGCTTTGGCCAATGGAATGCTAGCAAACTTGGAGCAGAGGCCTGAAAAATATGTCCTTGCATCTCTGCTGTTGCTTCTACCCTTTGTCACCGTGAGAAGTGGACACCTGGGCTGGTTTGCTGGTCCCAGAAGGAGAGTGACAGGCAAGAGGAAAAGAGATGAGCCACCTCCAGTCACCCTTGCTTAGGCTATCCTACATCGGCTGATCCCCAGACATCTCATTGAGCCTAGCCAAGGTAAGCAGAGCTGCCTGGTGACCACCCTGGCTGACTGGGCAATGAATGCAGATAGCTGTCTGCCATGAGGATTCGTGGCTGTTTGTTACACCGCATTGCTATGGCAATGGATAACTGATACAACAGCGGGTACTCCATATCTGTCAATCGAATAAACAAGTTTCTATTTCATTTTGAAAAATTAGTGGTTTAATAAATTATCAACTATTCAAACTACAGTACCTTCTATACAGGTTTTCTACAAAAATGTATCTTGCGCTGTGAATCGACCTCTCCATCAACCATACAGATGACACCTAAAGGAAAACAAAAAGAGAATCACTAACTCAGGGGAAAAGGAGACAGCCAGGAGGCCTTGAGAAATGTCTGTTACTCCCCCTGCCTGGGGACTTTGCTGAATATGAGAATCAAGGCGGCAGAGAGAGTGAAGCAGGAGGACCTCCTCACTCCCCTGCCGGGAGGAGAAGCCACATCTGCCACCAGGCTCAGGCTGTGTCCCCCTTCCACCCTGACCTGCCCCACACCCCAAAGCTGCATGCATGGCCCAGCAATGCCGAGGCTGAGGGCTCATCAGCAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTT
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Task1_train_22787
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Gene TK2 (thymidine kinase 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Mitochondrial disease
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CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTT
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CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATTCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTT
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Task1_train_22788
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Given a variant located on Chromosome 16 and affecting TK2 (thymidine kinase 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form
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CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTT
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CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATTCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTT
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Task1_train_22789
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Consider this mutation in TK2 (thymidine kinase 2) on Chromosome 16. Is this a benign change or a disease-causing variant?
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Pathogenic; Mitochondrial DNA depletion syndrome
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CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTT
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CAGCTGCCTCTTTGATGGCAGGTGAGTCTCAACTAGAACACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATTCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTT
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Task1_train_22790
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This sequence change occurs on Chromosome 16, altering TK2 (thymidine kinase 2). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
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CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCAAGGCAGGAGGATCACTTGAGCCCAGGAG
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CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCATAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCAAGGCAGGAGGATCACTTGAGCCCAGGAG
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Task1_train_22791
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An alteration has been detected in TK2 (thymidine kinase 2) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Mitochondrial disease
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CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCAAGGCAGGAGGATCACTTGAGCCCAGGAG
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CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCATAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCAAGGCAGGAGGATCACTTGAGCCCAGGAG
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Task1_train_22792
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A genetic alteration is present in TK2 (thymidine kinase 2) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Mitochondrial DNA depletion syndrome
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CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCAAGGCAGGAGGATCACTTGAGCCCAGGAG
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CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCATAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCAAGGCAGGAGGATCACTTGAGCCCAGGAG
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Task1_train_22793
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Gene TK2 (thymidine kinase 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Mitochondrial DNA depletion syndrome, myopathic form
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CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCGTAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCAAGGCAGGAGGATCACTTGAGCCCAGGAG
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CACGGTCAAGCCCTGGAGAAACCATCCAAAGCTGTCCACTTGAGGCAACATGTGGTGACTACCACGGACCTAAATAGGGTGAGTTTGCTTAAGCAGAGGGACCACATGCATGAGGTACAGCCCCAAGAGGGTCGGGTTGGGGGTGACGTTCTGGGGGCTCTGCCCAAGGAAACTGGTAAGAACGATGCCCAAGAGGGAGGAAGACAGCCTGACAGTGCCCCTTTCTGCCAGGATGCTCAAACCCTCTGCAGACGACCTTGCCCTTTGTCCAGCGTTCCTCTGGGAAGCAAGAGGCGCCCTGACCCTTGATGCCAGGCACACTAACACTACTCTCACTTGGCCATGGCCCACAGCACCCATGGGACCTGGGCCAACAAATCCAAGGCAGATTCAAAGCCATAACCCAGGCACTTCCTCCCTCTCCCTGCTGTCCCTCTGTCCATCCATCCTCTGCCCATCCATCTTCCTTTCCATTCTTCCATCCTCTCTTTCCTTACTTCCTAGCTCCCCATTCATCCCTCTGGTCTCCTTCTGCTCATCTTTCCTGGTCTGTCCATCTCTCTCTGCCTCCTGAGGTAGATTTCCTTAAATAGAGGAGTGCATTTATATCCCTTCCTATTCAAATATCATTAGATACAACTTAGGTTTGCAATTGAGTGCCTGCTCAGGAAAAGCAAATTAGCAAAGGCAAAATGCACTAACCTCAGATCTTTCGATTTGTGGATTTGTGCAATTTAGACAGATATTTGGGGAGATGGAAATTCTTATTCACCAAAAACGGCCCACTCACATCTTTCAATTTTAAAAGACAGACTTACAGAAGAATGGTAGCTATTGCTGCAGGTACCCAGACTGGGACCGAACTGTCCAGCCCAGCAGCTGTGCCAGTGTTAACTGGCTGTAGGGACAGTCTGTCTCCTTCATGCAGAGCCTTAAAGCTGGCATCATAGGTTGTGCTTACAGCTTTGAAACATAGGTGCTGATCAGGACCTCCACAGCCCCCTTTCTTCTAAGAGACTCTGTCTCTAGATGCATCCTCACTGATGGAATAGGCCTAAGCAGCCATGTTTGTGCCTTGGGGTCCTGTCCCCAACACCTGATTGAACCAGGGCTGGACACCTGACCAAAGCTGAACCAATCAGATTCTTTGTCTCAAGAATTTGAACTAAGAGCCAGACCCCATGAAGGTTAAATAAGTGGTTCTCAAATATGAAAACAAACAAAGCATGCATTCGAGTCACCTGGAGGGCTTGATAAAACACAGATTGCTGGGCCTCATCCCTAGAATTTCTAATTCAGCAGGTCTGGGATGTGACTAGAAAATTTGCATTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTATAGGCACACACATACCACCACGCCAGACTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGGGATCCACCACACCCAGCTGAAAATGTGCATTTCTAACAAGTTTCCAGGTGATGCTTCCGCTGCTGGTCCAGGGACCACACTTTGAGAAGAACTGAGTTAAACGGCATTAAGCCCAGCAGTGGTCAGGTCATAAAGATGTGAGCTCAGAATGGTGGCAGGGGCACCACCTGGCTGGCTGAGGTTTGCAGGTGGGGGCACTAGAGGCAGGTCAGAAGAGAACCACAGAAGCCAGAGACCTTGGCCCCACACAGAGAGGCCTGCACAGCACTGAAGGCCTAGCCTGGCTTCCTTGTAAAGTTTCCCTTCCTGGCAATCACATACCCCAAGTCTGAAGAAAACGTTTAAGAAGGCTGAAACTGAGCATCTGAAACCTACCTGAGGACGAGTATGCCTGTCCAGCATGGTGAGCTGCACATAAGTCTGTAGCATAAGACCCCAGCGAGAGGCATCGTGGTACATCAGGCCCTGCAGAAGGGAAAACACAGCACTTTCCATCAAAGTGGCATCTGCAGGAGGACCCTGGTCTCACAAGGCACTGAAGGACAGCTCAAGAAACCTACACAGGCAGGGTTGGGGCTGGAGATAAACCCAGCATGATCACAGGGCTCTGACAGCAGGGTGGACAAAGGCAGACACTGAAACAATTATAGGACAGTATGGTAACAGCTATAATAGGAGCCTATGGAAAGTCTCCGAGGGACCGGAGGAATTAGGCCAGACAAAGAAATGAAGGGCATCCAAATTGGAAAGGAAGAAGTCATCTTAACCTTGTTCACGGACAACATGATCTTACACTTAGAAAAGCTTAAAGACTCAGGCCATTATCCTAAGCTAATTAATGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTTAAGTGGATATTTATAAGTGGGTACAATGGGTACTCATGGACATAAAGATGGCAACAATAGACACTGGGGACTCCTAGAGTGGGGAGGAAGGGAGGGGGCAAAGGTTGAAAAAGTACCTATTGGGTACTATGCTCAGTACCTAGGTGATGGGATCCATCATACCCTAAACCTCAGCATCATGAAATATACCCAGGTAACAAACCTGCACATGTACCCCGCTAAAAGTAAAATAAAAGTTGAAATGACCAAAAAAAAAAAAAAAAAACCTTAAAGACTCCACCAAACAACTGTTAGAACTGATGAACGAACTCAGTAATACCACAGGATACAAATCAACATATAAAAATCAGTAGCATGTATATACACCAACAGTGAACAACCTGAGAAAGAAATCAAGAAAGGAATCCCATTTGCGATGCTACAAAGAATATAAAATACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAATCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGCACCTGTGGTCCTAGCTACTCTAGAGGCTGAGACATGAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGGGCCGAGATCGTACCACTGTACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAAAAAAATAAATTAATTAATTAATTAATAAAAGTAAAATACCTAGGAATCTATTTAACCAAAGAAGTGAAAGATCTATACAAGGAAAACTATAAAACACTGATGAAAGAAATTGAACAGAACACACACAAAAAAAGAGATATTCAACACTCATGGATCAGAAGAACTAATACTATTAAAATGACAATACTACCCAAAGCAATTTACAGATTCAATGTAATCTCTATCAAAATACCTATGACAGTCTTTGCAAAAATAGGGAAAAAAAAAATCCTAAAATTGATATGAAACCACAAAAGACCCCAAATAGCCAAAGCAATCCTGAGCAAAAAAAACAAAGTTGGAGGCATCACACTGCCTGACTTCATAACTGTTCTCTATAGTAGCTGTACTAATTTACATTCCCACCAACTATGTATGAGGGTTCCCCTTTCTCCACACCTATCACCTGTCTTTTTGATAAAAATCTTTTTTTTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGACTGAAGTGCAGTGGCATGATCTCAGCTCACCGCAACCTCTACCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATCACAGGCATGCACCACCACACCCAGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATAAGAGAATAATTTGAATGTTTCTAGCATAAAGAAAAGAGAGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGCCCAAGGCAGGAGGATCACTTGAGCCCAGGAG
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Task1_train_22794
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This gene mutation involves TK2 (thymidine kinase 2) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Mitochondrial disease
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AGCATAAACCATACTGTTTGCAGAAACAATTTAAGCAGAGAGCCACTGTTATCAGTTAGGAATGGTGGGGGCCCTCCCAAGATCTAAGTTCCCAGATGCCAGCCAAAGACCACCCTTGCAAGCAGGCATTTCTAAAGGGCAGCAGTCTTAGGTCTGCTATGTTAACTCTTTCCTGCACAGCAGCACATGAACACAGCAGGACAAGGGCTATATAATGTTTATTATTATTTTTATCAAACTATATATATTTCTTTTCTTTCTTTCTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGGGCCTCACTCTGTCACCCAGGTTGGAGTTCAACGGCACAGTCCTGGCTCACCACAGCCTCAACCTCCTGGGCTTAAATAATCCTCCCACCTCAGCCTCTTGAGCAGCTGGGACTACAGGCATGTGCCACCACATCCAGCTAAGTTTTGTATTTTTTGTAGACATGTGGTTTTGTCATGTTGGCCAGGCTACTCTTAAACTACTGGGCTCAGGTGATCCTCCCCCTTCAGCCTCCTAAAGTGCTGGGATTACAGGCATCAGCCACCACACCTGGCCATGCATATATTTCTAGCAGAAGTAAAAACAGGAAAGGAAGGGAAGAAGGAAAGAAAATGACTATAAAAGTATAGAAATTGTAGCTTCTGTAGTAACAAAAGAGAGCCATCAATAGAGAAGATTATACCACTAAAATCTAGAACAAGGAAGACAGGTCAATGTCTTAGTGTAGAGATGATTCTTAAACATCTCTGAGGTTAGTTTTAGTGACTAGGCTTTAAATGAACTAGAAATTAAATTAATTGCCTATGCATAGTAATACCCACTGCTCAGACATTGCTATCTCAGATGTCACACTTCTAGCCCTGCTCAATAGCCTGTCCTTTCTTCTTACCCATGTAGACTCTTTTCCTAACCAGACTTTGAGGCAGTCAACACTTGCACTGTCCAATACAGTGGCCATGAGCCACAGGCAACTATTAAGACCTTGAAATATGAGTAGTCCAAATTAAGATATGCTATAAGTTACACTTATTTTACAAATACAAACAGTTTGAGCATCCCTAATTGAAAAATCCAAAATCCTAAATGCTCCAAACTCCAAAACTTTCTGGAAACCGATATGACACTTCAAATGAAAAATTCCACACATAAATACTTAACACAAACTTGTTTCATTCACAAAATTATTTAAAATATTGTATAAAATTACCTTCAGGCTATGTATATATGAAACATAAATGAATTTCGTGTTTTGGCTTGGGTCCCATCCTCAAGATATCTCATTACATTTATGCAAATATTCCAAAATCTGAAAAATTCTGAAATCTAAAACACTTCTGGTCTCAAGCATTTCAGATAAGGGATGCTCAACCAGTATCATATTCCAAAGACTTAGTATAACAAGATAGAATGCAAAATAGCTCATTGATGATTTTTATATTGATTAAATGTTGACATGATCACATTTGGCATATGTTATGTGAAATAAAATGTCCTTTTTATTTTTTGTGGGTTTTTTTCTTTTTTTGAGACAGGGTTTCACTCCTGCTGCTCAGGATGCAATGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGAGCTACAGGCACGTACCACCATGCCTGGCATATTTTTGTAGAGATGGGGTCTCGCCATGTGGCCCAGGCTGGTCTGGAACTCCTGGGCTCAAGCAATCCACCTGCTTCCGCCTCCCAAAGTGCTAGGATTACAGGCTTGAGCCACTGCACCGGCCCCTTTTGTTTTTTTAATGAGGATATTAGAAATGTTAAATTACACCTGTGGCTTGCACTTGTGGCTCAAATTATAGTCCTATTGGACAAGGTTAGTCCACACCCTCTATAAATTATCCCATCAAGCTTTCTCCGCTTCCTTCAAACCTAGCATAGAGGCTGTACCTCGACGTCTGTCGCGTTGGAGAAGAATTCCAGGCATGTCGTCTTCCCACTTGCAATATTGCCCTCGACACAGATCTGGCAAAAGACGAATGCATATTAGAGCCAGAACTCAAGCACCCAGGGGAATGTCAGGGAATAATGGCTACGGAAAGGGCTCATGTAACCAGCATAATTGGTTCAGTCCAAGACTTTCACATGTAAACCAAAATCCCTCCTCGGGAAACTGGCAAGGTCCCATTGTTAGTAATAACAGATAAGCCGATCCTCCCTGAGTGGCAGGCTCATGTGGTCCCCCCAGACCAGATCCTCCTTTACGTCAACTCCTAAACCATACACAGCTTGTCTGCCCAGCCCAGCTCTGCCCTTCCTTAGTTCAACCCCACAGACTATTAGATTTTAGGCCTAAGTGTCCTGCCTCCTTAACGAGAGCTTAATCAATGGCTTTGAGGCTAGGAAACACATATATGTTATCTAGAATCGAATTCACTGCTTTACAGAAAAAAAAAGCACTTGGTCACTGACTGGAAACCATTAGGAAAGGGGAGAAGAAAAAAAGAGCAAGGACTTTGTTAAGCACCTTGTCACAGGCCAAGCCCTGAGACAGGTAACACACCATTATCACATGTAACCTCACTGAAACCTGAGAAGGGTAAGTCCTAACATTTTTCACAGAAAACAAAAATGAGGCTTGTAGAAGACAATAAAGCAAGGACAGCTTGAACCTAGACTCTGCTCACAATGACTGCACGTGGGAGGGAAAGGGGGTCATGGCACTAGTGGGAGGGGCCAGAAACAGCCTTCTGGGTCTACCTATACCAAAGACCAAGGAGCATCCTAGAAGTAACTCATCTTAGGGAGAGAAGGTATTCCAGGCAGCGGTTCTCAGCTCTGGCTATACGCTAGGACCACCTGGGACCTTTTAAAAATCTCTACAGGGATGCCACAGCCCAGACCAATTACACCACAATCTCTGGGAGTGAGACTCAAGACTCAGTAACTTTTTTTTTCTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCTGGAGCACAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTAGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCAAGCCTCAGTAACTTTTAAAGCTCTCCAGGCGATTTCAATGTGCAGGCAAGGATGGGAACCACGAGGCTGGAGCAGAGCTTCTCCCTGTCTAGTCCACAGATGCCTGCTTCAGATGCACCAGAGGAGCTGGTTAAACATGAGGTGGCACCAGGTAGCATCCAGACCCTAAATCAGACTCTAGGCTGGAGCCCTTGAACCTGTAGCCCAGTGATTCTGACCAAGCTCTGCTCAGCCAGGCACTGCTGATGACATAGGCCCAGTGGCTCTGGCTCCAGCAGATGGCCACAGGGAACGGGCAGCTCCAATACATAAGACAAACTGTCCCCTGAGAACACATTAGACATCCTCCAGGGGCACACACAGAGAGGGGCCCGACCTGCTGCACAGAGGCCTGTTCCTTTGCACTCAGGCTGGAAGCACCCAGAGAAACCTGGGCAACACAGGTAACTTACCCAAGTGCCAGACTTGGCTAGGGAAGAATCAGAATTAGAATTCACATCCAGGCCCCTTCTCACGACTCCTGATGGAGCCTCAGTCACACCTCACATAAACACCAGGTCACAGTGGGCCGTCTCACCCGACCCCACTAAAGTCTCCCCAGCAACTAGAACTCTGTCAGCTGGCGGAGAAGGTTCCTCCTGCCTTGATCCTAACGGGTATCCAGGAGACACAAGGCCACTCTCCCATCCTGGGTCCCTCCCAGCCCACTCCTTTAGAGCCCCAAACTACAAAATGAACCCAAGGGAATGAACAAAAGGGCATGAAAAGACCCCATTAGGGCACTAATGGATTTAATTTTTTTATTGCTCTTTAAAGAAAACTTT
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AGCATAAACCATACTGTTTGCAGAAACAATTTAAGCAGAGAGCCACTGTTATCAGTTAGGAATGGTGGGGGCCCTCCCAAGATCTAAGTTCCCAGATGCCAGCCAAAGACCACCCTTGCAAGCAGGCATTTCTAAAGGGCAGCAGTCTTAGGTCTGCTATGTTAACTCTTTCCTGCACAGCAGCACATGAACACAGCAGGACAAGGGCTATATAATGTTTATTATTATTTTTATCAAACTATATATATTTCTTTTCTTTCTTTCTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGGGCCTCACTCTGTCACCCAGGTTGGAGTTCAACGGCACAGTCCTGGCTCACCACAGCCTCAACCTCCTGGGCTTAAATAATCCTCCCACCTCAGCCTCTTGAGCAGCTGGGACTACAGGCATGTGCCACCACATCCAGCTAAGTTTTGTATTTTTTGTAGACATGTGGTTTTGTCATGTTGGCCAGGCTACTCTTAAACTACTGGGCTCAGGTGATCCTCCCCCTTCAGCCTCCTAAAGTGCTGGGATTACAGGCATCAGCCACCACACCTGGCCATGCATATATTTCTAGCAGAAGTAAAAACAGGAAAGGAAGGGAAGAAGGAAAGAAAATGACTATAAAAGTATAGAAATTGTAGCTTCTGTAGTAACAAAAGAGAGCCATCAATAGAGAAGATTATACCACTAAAATCTAGAACAAGGAAGACAGGTCAATGTCTTAGTGTAGAGATGATTCTTAAACATCTCTGAGGTTAGTTTTAGTGACTAGGCTTTAAATGAACTAGAAATTAAATTAATTGCCTATGCATAGTAATACCCACTGCTCAGACATTGCTATCTCAGATGTCACACTTCTAGCCCTGCTCAATAGCCTGTCCTTTCTTCTTACCCATGTAGACTCTTTTCCTAACCAGACTTTGAGGCAGTCAACACTTGCACTGTCCAATACAGTGGCCATGAGCCACAGGCAACTATTAAGACCTTGAAATATGAGTAGTCCAAATTAAGATATGCTATAAGTTACACTTATTTTACAAATACAAACAGTTTGAGCATCCCTAATTGAAAAATCCAAAATCCTAAATGCTCCAAACTCCAAAACTTTCTGGAAACCGATATGACACTTCAAATGAAAAATTCCACACATAAATACTTAACACAAACTTGTTTCATTCACAAAATTATTTAAAATATTGTATAAAATTACCTTCAGGCTATGTATATATGAAACATAAATGAATTTCGTGTTTTGGCTTGGGTCCCATCCTCAAGATATCTCATTACATTTATGCAAATATTCCAAAATCTGAAAAATTCTGAAATCTAAAACACTTCTGGTCTCAAGCATTTCAGATAAGGGATGCTCAACCAGTATCATATTCCAAAGACTTAGTATAACAAGATAGAATGCAAAATAGCTCATTGATGATTTTTATATTGATTAAATGTTGACATGATCACATTTGGCATATGTTATGTGAAATAAAATGTCCTTTTTATTTTTTGTGGGTTTTTTTCTTTTTTTGAGACAGGGTTTCACTCCTGCTGCTCAGGATGCAATGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGAGCTACAGGCACGTACCACCATGCCTGGCATATTTTTGTAGAGATGGGGTCTCGCCATGTGGCCCAGGCTGGTCTGGAACTCCTGGGCTCAAGCAATCCACCTGCTTCCGCCTCCCAAAGTGCTAGGATTACAGGCTTGAGCCACTGCACCGGCCCCTTTTGTTTTTTTAATGAGGATATTAGAAATGTTAAATTACACCTGTGGCTTGCACTTGTGGCTCAAATTATAGTCCTATTGGACAAGGTTAGTCCACACCCTCTATAAATTATCCCATCAAGCTTTCTCCGCTTCCTTCAAACCTAGCATAGAGGCTGTACCTCGACGTCTGTCGCGTTGGAGAAGAATTCCAGGCATGTCGTCTTCCCACTTGCAATATTGCCCTCGACACACATCTGGCAAAAGACGAATGCATATTAGAGCCAGAACTCAAGCACCCAGGGGAATGTCAGGGAATAATGGCTACGGAAAGGGCTCATGTAACCAGCATAATTGGTTCAGTCCAAGACTTTCACATGTAAACCAAAATCCCTCCTCGGGAAACTGGCAAGGTCCCATTGTTAGTAATAACAGATAAGCCGATCCTCCCTGAGTGGCAGGCTCATGTGGTCCCCCCAGACCAGATCCTCCTTTACGTCAACTCCTAAACCATACACAGCTTGTCTGCCCAGCCCAGCTCTGCCCTTCCTTAGTTCAACCCCACAGACTATTAGATTTTAGGCCTAAGTGTCCTGCCTCCTTAACGAGAGCTTAATCAATGGCTTTGAGGCTAGGAAACACATATATGTTATCTAGAATCGAATTCACTGCTTTACAGAAAAAAAAAGCACTTGGTCACTGACTGGAAACCATTAGGAAAGGGGAGAAGAAAAAAAGAGCAAGGACTTTGTTAAGCACCTTGTCACAGGCCAAGCCCTGAGACAGGTAACACACCATTATCACATGTAACCTCACTGAAACCTGAGAAGGGTAAGTCCTAACATTTTTCACAGAAAACAAAAATGAGGCTTGTAGAAGACAATAAAGCAAGGACAGCTTGAACCTAGACTCTGCTCACAATGACTGCACGTGGGAGGGAAAGGGGGTCATGGCACTAGTGGGAGGGGCCAGAAACAGCCTTCTGGGTCTACCTATACCAAAGACCAAGGAGCATCCTAGAAGTAACTCATCTTAGGGAGAGAAGGTATTCCAGGCAGCGGTTCTCAGCTCTGGCTATACGCTAGGACCACCTGGGACCTTTTAAAAATCTCTACAGGGATGCCACAGCCCAGACCAATTACACCACAATCTCTGGGAGTGAGACTCAAGACTCAGTAACTTTTTTTTTCTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCTGGAGCACAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTAGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCAAGCCTCAGTAACTTTTAAAGCTCTCCAGGCGATTTCAATGTGCAGGCAAGGATGGGAACCACGAGGCTGGAGCAGAGCTTCTCCCTGTCTAGTCCACAGATGCCTGCTTCAGATGCACCAGAGGAGCTGGTTAAACATGAGGTGGCACCAGGTAGCATCCAGACCCTAAATCAGACTCTAGGCTGGAGCCCTTGAACCTGTAGCCCAGTGATTCTGACCAAGCTCTGCTCAGCCAGGCACTGCTGATGACATAGGCCCAGTGGCTCTGGCTCCAGCAGATGGCCACAGGGAACGGGCAGCTCCAATACATAAGACAAACTGTCCCCTGAGAACACATTAGACATCCTCCAGGGGCACACACAGAGAGGGGCCCGACCTGCTGCACAGAGGCCTGTTCCTTTGCACTCAGGCTGGAAGCACCCAGAGAAACCTGGGCAACACAGGTAACTTACCCAAGTGCCAGACTTGGCTAGGGAAGAATCAGAATTAGAATTCACATCCAGGCCCCTTCTCACGACTCCTGATGGAGCCTCAGTCACACCTCACATAAACACCAGGTCACAGTGGGCCGTCTCACCCGACCCCACTAAAGTCTCCCCAGCAACTAGAACTCTGTCAGCTGGCGGAGAAGGTTCCTCCTGCCTTGATCCTAACGGGTATCCAGGAGACACAAGGCCACTCTCCCATCCTGGGTCCCTCCCAGCCCACTCCTTTAGAGCCCCAAACTACAAAATGAACCCAAGGGAATGAACAAAAGGGCATGAAAAGACCCCATTAGGGCACTAATGGATTTAATTTTTTTATTGCTCTTTAAAGAAAACTTT
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Task1_train_22795
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This alteration in TERB1 (telomere repeat binding bouquet formation protein 1) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Azoospermia
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TTTAAGGGCCTACTTTGGAAGAGCAACATTGGAACTGGACAGAAAGGGATCAAGAGGGGTAAACAGAAGTAGAACTACAGGTCTTAATGACTGACTTAATACAATGAGTGAAGGAGAATTAGGAGCTGAAATGACTAGTTTGAGGTCTGAATGACTAGGAGAAAAGCAATACTTTTAAGACCTTCACATAACTGGAAGAAAAAAAAAAACAGAAGTATATTTCCGCTTTACTATTTTAATAACCACACTCAATAAATCCAATACTTACCACAATCCTCTGTGCAATGACCAAGAGTAAGCATGATGCTAAATTTTTCTCCTGAATCCAGACTTTCATGAAGCAGTAATGCCAGAAGTTTAGAAACAATGTGGTACTTGGAGAGTACTATCCCAAAAGTAGCTATTAGTATAAAATAGGAAAAAAAGATAGTACAAATTTAAAACTTATAAATGTATATATACTATGTATTTTTCAGAGTTTATTCAGGCAGAATGTTATATATCTATATAAAATTAAATATACACATATCATAACATCTAATAAATATGTGTATGTGTGAATATAAATAAAATATAAATTCATTGTAATAAGATGGCGGCCTATTACTATAACCCTCATTACTCTTTCTTCCCATACTAAAGACATATTACTAAAGCAAATTTTTTGAAGAATTTTTTTCTTAATTGTTCTGCAGAATGCTGTGAAGATGAAGTAACACTAACTTCCTAAAAGCTGAGTATGCTTACTCTCCCCTTACATACCTCTTCTTATCTAGATTGGATAGTAAAGACTTTCCTACATAATCAGTTCCTGCTGTCATTTAAAATACACTATTAACTGACCACAGTTCTACTGACTTACTGATGCAATGAAGCATATGCAAAGCTATGCTGAGATGTGACAAAAGTCAAAAAGACCACCATTTTAAGCTATACTTCTCCAAATGTGGCTTTTAACAGAGTTCACCCAGAGTCTAACAATACTAATATCAACAAAAAAGTTGTGAATTCCTGAAGGGACTACATCTTAATCATTTTTGTACTTGTAAAGCTCCACACATAGCAGGTCCTCAATAACCACTTTTTAAAAAACCATCTATTTTTTGCTCCCTAGTTGTTTGTGAATAATAATAGAGTTTCTTACTCTTCAGTGTTTGCGCATGTGAGAAGCAGCAGCCATGAGTTCAAGTCTGGTTCTGCCACTCACTAGTAATGCTGTGTTGGGTAAATCTGACCTCATACTTAGCAGAAAGAGATGTATTCTTTACATAAATTGGGTTTTCCATTCTTAATCTCAAAAATATCCCTTGGTTTCTCATCTGAAAATTTTAAATTTTTTTTTTTTTGAGAGATGGAGTCTCGATATGTTGACCAAGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCTCCCATCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACACAGCCTGAAATTTTTAATTTAATGCTGCCTTTTTTTCCAGATGGAGTTTTGTACTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCCCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCTTGTCTTGGCCTCCTGAGTAGCTGGAATTACAGGCACCCGCCACCACGTTTGGCTAATTTTTGTATTTTTAGTAGAGATTAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGTCCAGCCATGTTGGATACTTTCTAATACTTCCTTCCACCTGTGAGAAACTTAGTCTAAACCATGTTACTATTCAATCTACTATTTCAACACTCTTCATGCTATATTCAAACAAAATTCAATTTCAAAAAAACTAGTAAGCACTGTCACTCACGATTATCAGCAATGCATGCATCCACAGTCTTCGTCACAACCACTGCAAGTTTAGCACTGGAAAGAGTCTCATGTGAATCAGATTCCAGCTGCATGAGAACTTGAGACAATACATCCAGTCCGCCCACAGATACGAAGTATTTCTGAACATATGCTTAAAGAATAAAGTAGCAAAACTATTAATATTTCAAACAAGACAGCTGAATGGTTTTATTCAATAAATCTGCATTAAATATAACATTGACCTTTTCAAATACTTTCTAAAAATCCCAAAATTAAAGAACTAAAAATCCAATCTTTACCTGTGCATATAATCATAAAATAGATTACTTATTATGTATCTTACTTTGACACAGTAAAACTACAGTATTTCTTGTGTACTAGAAATCTTTTTTGTTTCATTTAGTAAGAACTGCTCTATTTTGTAAGAATGGCATTATTAAGCTGTCCTTTAGGCCGAGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGATAGGCAGATTGCTTGAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTGAAACCCCATCTCTACTAAAAATAAAAATAATAAGCTGGGTGTGGTGGTGCATGCCTATAATCTCAGTTACTCAGGTGGCTGAGGCAGGAGGACCACTTGAACCTGGGAGGCAGAGGTTGCAATGAGCTGAGCTCACACTACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAACAAACAAACAAAAACAAAAGAAAAAAACAAAAAAAACACCTAACCCTCAACATTATTAAACAAGTCTTTCAATAGAGTTATAAAGAATATATTCATTCATTTATCTTGGTAATTAGCAAGCTGCCTATTTTCTGCAATCCAACATAACTAATTCCTCAGATTGACTCCTCAAGATGCAAAGTAATTTAACCGTTCTAAAAGAGCATACATCTCATCCATCATATTTACACCTAATTATTTTACTTCTTGGAGCATAAAATTATAACAGATCCCTGAGAGTCGTAACTATTCCAAGCAAAGATTCAATGACCGGTATCTATTTCTTTAAGTCTGAAGTCTTTTGTTCCCTAGTGGAAAATAATTCTGGGCCGGGCACCATGGCTCATGCCTTTAATGACTACAGGCGTGCACCACCATGCCTAGCTAGAAATTTTTGTATTTTTGGTAGAGACAGGGTTTGACCATGTTCCCCAGGCTGGTCTCAAACTCCTGAACTAAAGCAACCTGCCTGCCTCGGCCTCCCAAGGTGTTGGGATTACAGGCGTGAGCCATGGCGCCCAGCCCAGAAACATTATTTAAGGGCAGGCAAACATTTTCAATATTATGGTGGCTCCAAAATAGACTTCTTTCCTAGAAAGTATTTTCATTTTTTAAAAATCTTCAAAAAAGAGGCTGGGTGTGGTAGTAGCTCATGTCTGTAATCCTAGCATTTTTGAGAGGCTGAGGCAGGAGGATTGCTTGAATTCAGAAGTTCAATATCAGCCTGGGCAACATAGTGAGACCCCATCTCTACAAAATAAAAAAAAAAAATTGAAAATTAGCCAGGCTCAGTGGTGTGTGCCTGTAGTCCCAGCACCTCAGGAGGCTAAGGCAGGGGGATCACTTAGGCCTAGAAGTTTGAGGCTGCAGTGACCCATGATTGTGCCACTGTACTCTAGCTGGGGTGACAGAGTGAGTGAGACTCTAGCTCAAAAAAAAAAAAAGCACTTGTTAATGCATTGATGAAAATGGCAGTGTGTTACCACAGATTCTTAGTTATAGCCTAAGTGACAAAAACTCAGGCATATAAGCAGAAGAACATCCTAGACCACATTTATTGTACACTGAATATTTCAGATTTCCTCTGATCTGTAGTTTACTGAGGGTAATGACGTCCTATAACTATCACTCATTAAAGTTGGCTTTTAGAGATAAAGGGACTGTTAGGGTATCACGGAAATAGATTCCAATTTTTTTTGAATTCTAGAGATACATCCTTTGCATGTGACATATGAGTATTCGTTTCAAACACTTGAATATAGATATACATCAGCAATGTGTGAAAGTTCTAGTTGTTCCACATCCTTGCCAATATTTAACATGACCACTTTTTAACATGCTAGTGGTGTGTAGTAGTATCTCCATGGGATTTTAATTTGGATTTCTCT
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TTTAAGGGCCTACTTTGGAAGAGCAACATTGGAACTGGACAGAAAGGGATCAAGAGGGGTAAACAGAAGTAGAACTACAGGTCTTAATGACTGACTTAATACAATGAGTGAAGGAGAATTAGGAGCTGAAATGACTAGTTTGAGGTCTGAATGACTAGGAGAAAAGCAATACTTTTAAGACCTTCACATAACTGGAAGAAAAAAAAAAACAGAAGTATATTTCCGCTTTACTATTTTAATAACCACACTCAATAAATCCAATACTTACCACAATCCTCTGTGCAATGACCAAGAGTAAGCATGATGCTAAATTTTTCTCCTGAATCCAGACTTTCATGAAGCAGTAATGCCAGAAGTTTAGAAACAATGTGGTACTTGGAGAGTACTATCCCAAAAGTAGCTATTAGTATAAAATAGGAAAAAAAGATAGTACAAATTTAAAACTTATAAATGTATATATACTATGTATTTTTCAGAGTTTATTCAGGCAGAATGTTATATATCTATATAAAATTAAATATACACATATCATAACATCTAATAAATATGTGTATGTGTGAATATAAATAAAATATAAATTCATTGTAATAAGATGGCGGCCTATTACTATAACCCTCATTACTCTTTCTTCCCATACTAAAGACATATTACTAAAGCAAATTTTTTGAAGAATTTTTTTCTTAATTGTTCTGCAGAATGCTGTGAAGATGAAGTAACACTAACTTCCTAAAAGCTGAGTATGCTTACTCTCCCCTTACATACCTCTTCTTATCTAGATTGGATAGTAAAGACTTTCCTACATAATCAGTTCCTGCTGTCATTTAAAATACACTATTAACTGACCACAGTTCTACTGACTTACTGATGCAATGAAGCATATGCAAAGCTATGCTGAGATGTGACAAAAGTCAAAAAGACCACCATTTTAAGCTATACTTCTCCAAATGTGGCTTTTAACAGAGTTCACCCAGAGTCTAACAATACTAATATCAACAAAAAAGTTGTGAATTCCTGAAGGGACTACATCTTAATCATTTTTGTACTTGTAAAGCTCCACACATAGCAGGTCCTCAATAACCACTTTTTAAAAAACCATCTATTTTTTGCTCCCTAGTTGTTTGTGAATAATAATAGAGTTTCTTACTCTTCAGTGTTTGCGCATGTGAGAAGCAGCAGCCATGAGTTCAAGTCTGGTTCTGCCACTCACTAGTAATGCTGTGTTGGGTAAATCTGACCTCATACTTAGCAGAAAGAGATGTATTCTTTACATAAATTGGGTTTTCCATTCTTAATCTCAAAAATATCCCTTGGTTTCTCATCTGAAAATTTTAAATTTTTTTTTTTTTGAGAGATGGAGTCTCGATATGTTGACCAAGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCTCCCATCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACACAGCCTGAAATTTTTAATTTAATGCTGCCTTTTTTTCCAGATGGAGTTTTGTACTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCCCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCTTGTCTTGGCCTCCTGAGTAGCTGGAATTACAGGCACCCGCCACCACGTTTGGCTAATTTTTGTATTTTTAGTAGAGATTAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGTCCAGCCATGTTGGATACTTTCTAATACTTCCTTCCACCTGTGAGAAACTTAGTCTAAACCATGTTACTATTCAATCTACTATTTCAACACTCTTCATGCTATATTCAAACAAAATTCAATTTCAAAAAAACTAGTAAGCACTGTCACTCACGATTATCAGCAATGCATGCATCCACAGTCTTCGTCACAACCACTGCAAGTTTAGCACTGGAAAGAGTCTCATGTGAATCAGATTCCAGCTGCATGAGAACTTGAGACAATACATCCAGTCTGCCCACAGATACGAAGTATTTCTGAACATATGCTTAAAGAATAAAGTAGCAAAACTATTAATATTTCAAACAAGACAGCTGAATGGTTTTATTCAATAAATCTGCATTAAATATAACATTGACCTTTTCAAATACTTTCTAAAAATCCCAAAATTAAAGAACTAAAAATCCAATCTTTACCTGTGCATATAATCATAAAATAGATTACTTATTATGTATCTTACTTTGACACAGTAAAACTACAGTATTTCTTGTGTACTAGAAATCTTTTTTGTTTCATTTAGTAAGAACTGCTCTATTTTGTAAGAATGGCATTATTAAGCTGTCCTTTAGGCCGAGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGATAGGCAGATTGCTTGAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTGAAACCCCATCTCTACTAAAAATAAAAATAATAAGCTGGGTGTGGTGGTGCATGCCTATAATCTCAGTTACTCAGGTGGCTGAGGCAGGAGGACCACTTGAACCTGGGAGGCAGAGGTTGCAATGAGCTGAGCTCACACTACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAACAAACAAACAAAAACAAAAGAAAAAAACAAAAAAAACACCTAACCCTCAACATTATTAAACAAGTCTTTCAATAGAGTTATAAAGAATATATTCATTCATTTATCTTGGTAATTAGCAAGCTGCCTATTTTCTGCAATCCAACATAACTAATTCCTCAGATTGACTCCTCAAGATGCAAAGTAATTTAACCGTTCTAAAAGAGCATACATCTCATCCATCATATTTACACCTAATTATTTTACTTCTTGGAGCATAAAATTATAACAGATCCCTGAGAGTCGTAACTATTCCAAGCAAAGATTCAATGACCGGTATCTATTTCTTTAAGTCTGAAGTCTTTTGTTCCCTAGTGGAAAATAATTCTGGGCCGGGCACCATGGCTCATGCCTTTAATGACTACAGGCGTGCACCACCATGCCTAGCTAGAAATTTTTGTATTTTTGGTAGAGACAGGGTTTGACCATGTTCCCCAGGCTGGTCTCAAACTCCTGAACTAAAGCAACCTGCCTGCCTCGGCCTCCCAAGGTGTTGGGATTACAGGCGTGAGCCATGGCGCCCAGCCCAGAAACATTATTTAAGGGCAGGCAAACATTTTCAATATTATGGTGGCTCCAAAATAGACTTCTTTCCTAGAAAGTATTTTCATTTTTTAAAAATCTTCAAAAAAGAGGCTGGGTGTGGTAGTAGCTCATGTCTGTAATCCTAGCATTTTTGAGAGGCTGAGGCAGGAGGATTGCTTGAATTCAGAAGTTCAATATCAGCCTGGGCAACATAGTGAGACCCCATCTCTACAAAATAAAAAAAAAAAATTGAAAATTAGCCAGGCTCAGTGGTGTGTGCCTGTAGTCCCAGCACCTCAGGAGGCTAAGGCAGGGGGATCACTTAGGCCTAGAAGTTTGAGGCTGCAGTGACCCATGATTGTGCCACTGTACTCTAGCTGGGGTGACAGAGTGAGTGAGACTCTAGCTCAAAAAAAAAAAAAGCACTTGTTAATGCATTGATGAAAATGGCAGTGTGTTACCACAGATTCTTAGTTATAGCCTAAGTGACAAAAACTCAGGCATATAAGCAGAAGAACATCCTAGACCACATTTATTGTACACTGAATATTTCAGATTTCCTCTGATCTGTAGTTTACTGAGGGTAATGACGTCCTATAACTATCACTCATTAAAGTTGGCTTTTAGAGATAAAGGGACTGTTAGGGTATCACGGAAATAGATTCCAATTTTTTTTGAATTCTAGAGATACATCCTTTGCATGTGACATATGAGTATTCGTTTCAAACACTTGAATATAGATATACATCAGCAATGTGTGAAAGTTCTAGTTGTTCCACATCCTTGCCAATATTTAACATGACCACTTTTTAACATGCTAGTGGTGTGTAGTAGTATCTCCATGGGATTTTAATTTGGATTTCTCT
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Task1_train_22796
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Given this variant in gene NAE1 (NEDD8 activating enzyme E1 subunit 1) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
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TGCCGGGTTCAAATGATTCTCATGCCTCAGCCTCCCAAGAAACTGAGACTACAGGAGTGCGCCACCACACACAGCTAATTTTTTCTATTTTTAGTTTCAGTGTTGGCTAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCAATAATAGGTCACATTTATTGAGCATTAATAGATGCTGGACACTGTTCTAAGGACCTTATATCTATATTAATTGATTGAATCCTCAAAACAGTCCTATGAAGTATGTATAGTTATCTCCATTTATAGAAGAGAAAACTAAAGCACAGAGAGATTAAGTTACTTAGCTCATAAGTGATGCTGTATGACTTCCAAAGCTAGGTCATAAAAAGCCCTGTACCTTCCACTTGGGTTTTTTGGAATGTTAACTGCAGAAGCCAACTGACATGCCAAAAGGAAGTCCAAGCTAGCCACGTGAAGAGATACCTGACCAGCCGCCAGCTATTCCCACTGTTCTGACTAAGGTGCTAGTTACATGAGTAAAAATGTCTTCTTGCATGTCTAACTCAGTCAGTCAAGCCTTCAGAATGACTCCACCCCCAGGCTCAAGCAACTGCATGCCTCCCCAAGGAGAACTGCCTGAGACCAGGCAACCCACAAAATCACGACACTATTTATTGTTTTAAACCACTAAGTTTTGAAGTGGTTTGTTATGCAACAGATAACTGAAATAAATACTAATCAAATAATACAAATAAAGCAATACATATTTGGTGTTTATTCTTTTTTTTTCTTCTAGTAAGCTTGCTTGTTAGGACTATAAACTCTGGGCAGCGCAGTGGCTCATGCGTGTAATCCCTGCACTTTGGGAGGCCAACACAGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGAGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCGAGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAACTGCTTAAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAGAAAAAAAAAAAAGACTATAAACTCTGGAGACACACTGTATCAGATGGAGCAGCAGGTTTTATGATACCCCTAGAATGTGTTGCTATGCAATAATCCTGCACAATTAAAATTATCATCCCAAAGAAAAATATTCTGAGCAACCTCAGATCTTTGAGATTATGCCAATTCTCCAATGACTACATTTGCTGAAGATAAAAAGTAGATAACTAAACAAAGAAATTCCTACATCTTCAGAGTTATTGAGTTCAGAAATTAGTAGCATACTTTTTTTTTTTTTTGAGACAGTCTCACCACAGTCACCCAGGCTGGAGTTTAGTGGCACAATCACAACTCACTGTAGCCCCAACTTCCCAGGCTCAGGTGATCCTCCCGAGTAGCTGAGTCTACAAGTGCACACCACCATGTCTGGCTAATTTTTTGTATCTTCAGTAGAGATGGGGTTCCACCATGTTGCCCACGCTGGTCTCCAACTCCTGGGCTCAAGCAATCTGCCTGAATCAGTCTCCCAAAGTGCTGGCATTACAGACGTGAGCCACCGTACTATGCCTGGCCAGCATATTTCTTGTGGCTTTCCTATTCCACTAAATTAAACTCAGTGTGAGTCTTAGTAACAAACTATGGAAAATGACAGAAAAAAGTTTTCTTCTATACATATTCAACCAACATCCCCCTGTAATAGTTTAGAATCGAACACTATTTTGCAAATAGTTAAACTTAAAAAACAAAAGGTGGTTCTTCACTGGGGAACGTTTGGGGTGTAATCTGTTTACAATGTGAAATTCAAGCAACACTATTATAAATACCCTGAGAACACTTTCAATTTAAATGTTTTATTGAAGATCTTATTATATCTGGTAATTCAATTGCTATTCTTACCTGGATATCTACCCTGTTGTTTATGAAATCTATCAACAGCCCGTAACATTAAGTACAACACTATTTCATTATCTGGATTGTCCATGCTAGAAACTGAAAGGAAAAAAAATTTCAGTTTAATTTGGTTAATTTGCAATGTAACAAACAATGAAGGGCTGAATTTACTATATACTTGAGTTTCAGGACTATTAACTGGAGTCACACAATCTCTACTGAAGTAGTAACATACTGACTTTAACTCATACATATCACACAATGGACTCAGTGACCTAAATATGACTTTATGCATACATTAAGTTTCATATAATATATAAATTATAATTACCTAGATAAGCTTAGAATAAAATTAGAATATGTTTACGTTATCTTTAATATCATCACCATATACTCAACACTATTATACACAAAATATTTATATCTTTTAAATTAATTAAAATTAACCCAGAATCAGAAGGCTATTATACTTACTAATTTCATCCTTGTTAATTGTATCCAAACCATATTCTTCAGCTAAGGATCGACATCTTACCACTCGAAGAAATGCAGAATTGCTGCCTGAACAGAGGAAAGATATTCTGGAAGTAATGACTGTGACTGGTGAATATTATGAATCACAGGTGACTTTAAGAACAGAGAATTATGTGTATACCCTTCTCAGACATGAGAATGTGAAGAAATGTTTTCTCCTTGGTTCTAATAGCAGAGAAAGCACTAGAACATGAATCACCTTAAATTTATATCCCTGGCACTACAACCAGTTCAGAAGCAAGTAAGGTGATGGCCTCTCTGAACCTCAGTTTTCAAGTGTAAAATGGGGATGATACTGTTTACCTTTGAGAATTGTTCTACAGATTAAATGTGACATCTGTATAAAGTGCATCTCTAGCACAATGCCTGATATGGCTCTAAAAATAATAGTTTTCATCATTATTATGGATAAGTAGTCCTAAAGGAGAGAGGTTTATGAATTGTACTCTTGATATATGTAATGACTTTAAGCTTTGTATTATTGAAATTTTCAAAAACGCCCCAAAGTAGAACAGAATAATAAATGTTCAAATACCCAGCATCAAACTTGTGATCTAGTATTATATAATCTAATACAACAAACGCTAATTCAAGATTAGTCTAATAGAACAAACAAGGTGCAAGATTAGTAGTGGCAGAAAACATTAAAACCGAGCCTAAACAGACATTGTGGAGAAGTCATAAAATGGAAAGCTTGGATAAATCTATTTTAAGGATGGGGAGCATGCAAAATATAAACTTCCACAGGACGTAGGAGCAGTAGCTACAGGGAGAAATCTTCAGATGGCATGCACAACAGATTGGGTATTTTGAAACTGACTCTTAAATAAAAGAAAATGCTTTTGGCCTACTGAGGAGTTACTGAGAAGACTCCTACGAACCTAACCACTCCGAAACTAGATGGCAAAATTCTTAACTCCATTACAGTCATTTAACACAGATCAAAATGAGTATTTAAACCAATATTGTCAATGTACATGTGACTCAAGACTTCACACCCAAAGTCTTCAGACAAAAAAACTTCCTAAATTACTTAAAATTTAAAAACTGAAAATCCTGTATTAATGGCAATTTTCAATTAACTGACCGTCAAGCCTTTTTAGCATTGCCACAGATAAACATGTTCTACCTCTGATTCAGTCTTAAAATACTCGCCATGTATTGTATTATGAGAGGAAAAAAAAAACCTTACCCAATAATTATCTATATCTATATCACTGAGGCCATGGAAAACTTAAAATTTCAACCATTCAAAATACCTGGGAACATTCCCTGTGGCACATTTCTATCAAGCAAAATAAGGAAATTAATTCAAGGGGACTTACAGAGTAATTTTAATTCTTTCTCTGAAATGGACTCTGGTGCCTGTAAAGAGATAAATACAGATTCTGTTCCAGTTTAAAAGAGAAGATTAACAAAGGGTGCGGCACAAAGCCAATCACTGTGAGATGGGAAGGCTTTCTCCAAGAGCTGGGAGAGCACTTTAAAAATATCTTGTTTCCTTATCACAAGCTATCCCATTAGGCAGGGAAATGACAGCTCCCTCTAAAGAAGCACAGAG
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TGCCGGGTTCAAATGATTCTCATGCCTCAGCCTCCCAAGAAACTGAGACTACAGGAGTGCGCCACCACACACAGCTAATTTTTTCTATTTTTAGTTTCAGTGTTGGCTAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCAATAATAGGTCACATTTATTGAGCATTAATAGATGCTGGACACTGTTCTAAGGACCTTATATCTATATTAATTGATTGAATCCTCAAAACAGTCCTATGAAGTATGTATAGTTATCTCCATTTATAGAAGAGAAAACTAAAGCACAGAGAGATTAAGTTACTTAGCTCATAAGTGATGCTGTATGACTTCCAAAGCTAGGTCATAAAAAGCCCTGTACCTTCCACTTGGGTTTTTTGGAATGTTAACTGCAGAAGCCAACTGACATGCCAAAAGGAAGTCCAAGCTAGCCACGTGAAGAGATACCTGACCAGCCGCCAGCTATTCCCACTGTTCTGACTAAGGTGCTAGTTACATGAGTAAAAATGTCTTCTTGCATGTCTAACTCAGTCAGTCAAGCCTTCAGAATGACTCCACCCCCAGGCTCAAGCAACTGCATGCCTCCCCAAGGAGAACTGCCTGAGACCAGGCAACCCACAAAATCACGACACTATTTATTGTTTTAAACCACTAAGTTTTGAAGTGGTTTGTTATGCAACAGATAACTGAAATAAATACTAATCAAATAATACAAATAAAGCAATACATATTTGGTGTTTATTCTTTTTTTTTCTTCTAGTAAGCTTGCTTGTTAGGACTATAAACTCTGGGCAGCGCAGTGGCTCATGCGTGTAATCCCTGCACTTTGGGAGGCCAACACAGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGAGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGGCGAGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAACTGCTTAAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAGAAAAAAAAAAAAGACTATAAACTCTGGAGACACACTGTATCAGATGGAGCAGCAGGTTTTATGATACCCCTAGAATGTGTTGCTATGCAATAATCCTGCACAATTAAAATTATCATCCCAAAGAAAAATATTCTGAGCAACCTCAGATCTTTGAGATTATGCCAATTCTCCAATGACTACATTTGCTGAAGATAAAAAGTAGATAACTAAACAAAGAAATTCCTACATCTTCAGAGTTATTGAGTTCAGAAATTAGTAGCATACTTTTTTTTTTTTTTGAGACAGTCTCACCACAGTCACCCAGGCTGGAGTTTAGTGGCACAATCACAACTCACTGTAGCCCCAACTTCCCAGGCTCAGGTGATCCTCCCGAGTAGCTGAGTCTACAAGTGCACACCACCATGTCTGGCTAATTTTTTGTATCTTCAGTAGAGATGGGGTTCCACCATGTTGCCCACGCTGGTCTCCAACTCCTGGGCTCAAGCAATCTGCCTGAATCAGTCTCCCAAAGTGCTGGCATTACAGACGTGAGCCACCGTACTATGCCTGGCCAGCATATTTCTTGTGGCTTTCCTATTCCACTAAATTAAACTCAGTGTGAGTCTTAGTAACAAACTATGGAAAATGACAGAAAAAAGTTTTCTTCTATACATATTCAACCAACATCCCCCTGTAATAGTTTAGAATCGAACACTATTTTGCAAATAGTTAAACTTAAAAAACAAAAGGTGGTTCTTCACTGGGGAACGTTTGGGGTGTAATCTGTTTACAATGTGAAATTCAAGCAACACTATTATAAATACCCTGAGAACACTTTCAATTTAAATGTTTTATTGAAGATCTTATTATATCTGGTAATTCAATTGCTATTCTTACCTGGATATCTACCCTGTTGTTTATGAAATCTATCAACAGCCTGTAACATTAAGTACAACACTATTTCATTATCTGGATTGTCCATGCTAGAAACTGAAAGGAAAAAAAATTTCAGTTTAATTTGGTTAATTTGCAATGTAACAAACAATGAAGGGCTGAATTTACTATATACTTGAGTTTCAGGACTATTAACTGGAGTCACACAATCTCTACTGAAGTAGTAACATACTGACTTTAACTCATACATATCACACAATGGACTCAGTGACCTAAATATGACTTTATGCATACATTAAGTTTCATATAATATATAAATTATAATTACCTAGATAAGCTTAGAATAAAATTAGAATATGTTTACGTTATCTTTAATATCATCACCATATACTCAACACTATTATACACAAAATATTTATATCTTTTAAATTAATTAAAATTAACCCAGAATCAGAAGGCTATTATACTTACTAATTTCATCCTTGTTAATTGTATCCAAACCATATTCTTCAGCTAAGGATCGACATCTTACCACTCGAAGAAATGCAGAATTGCTGCCTGAACAGAGGAAAGATATTCTGGAAGTAATGACTGTGACTGGTGAATATTATGAATCACAGGTGACTTTAAGAACAGAGAATTATGTGTATACCCTTCTCAGACATGAGAATGTGAAGAAATGTTTTCTCCTTGGTTCTAATAGCAGAGAAAGCACTAGAACATGAATCACCTTAAATTTATATCCCTGGCACTACAACCAGTTCAGAAGCAAGTAAGGTGATGGCCTCTCTGAACCTCAGTTTTCAAGTGTAAAATGGGGATGATACTGTTTACCTTTGAGAATTGTTCTACAGATTAAATGTGACATCTGTATAAAGTGCATCTCTAGCACAATGCCTGATATGGCTCTAAAAATAATAGTTTTCATCATTATTATGGATAAGTAGTCCTAAAGGAGAGAGGTTTATGAATTGTACTCTTGATATATGTAATGACTTTAAGCTTTGTATTATTGAAATTTTCAAAAACGCCCCAAAGTAGAACAGAATAATAAATGTTCAAATACCCAGCATCAAACTTGTGATCTAGTATTATATAATCTAATACAACAAACGCTAATTCAAGATTAGTCTAATAGAACAAACAAGGTGCAAGATTAGTAGTGGCAGAAAACATTAAAACCGAGCCTAAACAGACATTGTGGAGAAGTCATAAAATGGAAAGCTTGGATAAATCTATTTTAAGGATGGGGAGCATGCAAAATATAAACTTCCACAGGACGTAGGAGCAGTAGCTACAGGGAGAAATCTTCAGATGGCATGCACAACAGATTGGGTATTTTGAAACTGACTCTTAAATAAAAGAAAATGCTTTTGGCCTACTGAGGAGTTACTGAGAAGACTCCTACGAACCTAACCACTCCGAAACTAGATGGCAAAATTCTTAACTCCATTACAGTCATTTAACACAGATCAAAATGAGTATTTAAACCAATATTGTCAATGTACATGTGACTCAAGACTTCACACCCAAAGTCTTCAGACAAAAAAACTTCCTAAATTACTTAAAATTTAAAAACTGAAAATCCTGTATTAATGGCAATTTTCAATTAACTGACCGTCAAGCCTTTTTAGCATTGCCACAGATAAACATGTTCTACCTCTGATTCAGTCTTAAAATACTCGCCATGTATTGTATTATGAGAGGAAAAAAAAAACCTTACCCAATAATTATCTATATCTATATCACTGAGGCCATGGAAAACTTAAAATTTCAACCATTCAAAATACCTGGGAACATTCCCTGTGGCACATTTCTATCAAGCAAAATAAGGAAATTAATTCAAGGGGACTTACAGAGTAATTTTAATTCTTTCTCTGAAATGGACTCTGGTGCCTGTAAAGAGATAAATACAGATTCTGTTCCAGTTTAAAAGAGAAGATTAACAAAGGGTGCGGCACAAAGCCAATCACTGTGAGATGGGAAGGCTTTCTCCAAGAGCTGGGAGAGCACTTTAAAAATATCTTGTTTCCTTATCACAAGCTATCCCATTAGGCAGGGAAATGACAGCTCCCTCTAAAGAAGCACAGAG
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Task1_train_22797
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The gene NAE1 (NEDD8 activating enzyme E1 subunit 1) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
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CAGGCTGACTACCTCCCATGTAAGGTCATACTTCTTTCTATCCTCAATTGACCTTCCCCAAGTTTTAAGTAGTTGAACTCTTAGGCTAGGACAACAAACCAAGATTCGTTCAATGGTGACATGATAAAGAGTGAAATCTGTCTGGGGAAGAGAGATCATCTCTGTGTGACATTACTTGGACCCCAAAGAAACCGAGCCAGCAGACCTGGATTCTTTGCACCATGCCCTAACTATACGAGGGTCATATTCATTGAGACCCATCCCTGTGATAGTCTATCTGGGTTCAGGCTAGTGATACCTGGATAGCAAGATGTCTAGCTATAGTCATAGACTATAACTTATGAAACATTAAGATAAAAAATTCATCAAACCTTCATGGTTTTAAGTTACAAATACAAGGTAGTATAGGGCCATAGCTAAGCATACAGGCTCTGGTACTGGGTTTCCTGGGGTTCAAATCTTGGTTCTGCCATTTACCAGCTATCTGACCTTGTATAAGTAACCTTTTCAATACCTTAGTTTCTTCATGTGTAAAATGGGGCCGGTAACAGTCTCTCTCTCTCTCATAAGGTCGTTGTGAACCTTGTGTGTGTGTTAAATTACTTAATACATATAGTTCATAGCACAGAGTTAAGGGATCAAATATTAAGTTTATCATGAAGTATGAAAAAAAACTCTGCCTCCTAGGCGTATGTGGTAATTCTGTATTTCCCATTCAATTTTGCTTTGAGCTTAACAAGAATTGCCCCCTAAGTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGACTCTTGCTCTGTCTCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGTCTCCTGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGTGCGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTTCTGACCTTGTGATCCACCCGTCTCGGCCTCCCGAAGTGGTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTAAGTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGTCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTGGTCTAAGTTCTTCAGCTTATTTTTACTTATTTATTTGAAACAGGGTCTTGCTCTGTCACCCAGGCTGAAGTGAAGTGGCATGATCATGGCTCACTGCAGCCTCAAACTCCTGAGCTCAAGAGATCCTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTAAAGGCGAACACTACCATGCCCACCTAATTTTTCAATTTGTAGAGATGGAAGTCTCACTATGTTGCCCACGATGGTCTCAAACTCCTGGACTCAAGCAATTCTCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGCAGCTGGCCTAGTTTATTTATAAGCAATGAGGTTGTAATAAACTTTCATTTGATTTCTGACAGGATGATAAAATGTTTATCTCTAATATAATCAGACTTTTTCTATTACATAGTTTGAAAACAGTGACATACACGTTTTGCAGTTTTATATATTTGCCTGAATCTGCAATCATATCAGGAATTGTGCCTCGAACAGGTAAATTTCCTTGACCCTCTTTGGCCACAAATTCCTTTAAGGCACGAGCTAAAATCCAAAATGATGGAGTCTAAAAGAATAAGAAAAAATTAACATTAAGTGGCGTTTTACTTTGACCCAAAGTTTTAGCAGCAATGTTTTTACTTTTGTTGTTGTTACCTGTTTGGTGATATTTATGCAGCGATCATCATTAAATATATCTTCAATACTGCTTGGGATCTAACAAAGGAACATGAAACATTTACTTACACAGTATTAAGAATTCGCCCATCTTTATTTTCAGTGCTATTTCTTCAGATATGTTCTTTGAATTCTCAAATTGTAATCAAATACAAACTTCTGATTGGTTTATAATTTTATTTAGAATCAGTACCATATGAAGATTTGATGGGGAAAGAATGGAAGAAAGACCTCTCCGGCCCACTGTTGCTACCATTTAATACCTATTCTCTTATACCATAAATGGGGTAAAGAAGGGGCCCCAGTAAATTATTTTATATAGTTACATCTGAAGACAAAACAGATTATAGACTCGCAGTATATCATGATTTTCCATCTTGTCAAAAATCTGAAACCCTTGCACCCTAATTAGTGACCGTTGAGACAACCACTCTGAAAAAAACTAAAACCATAAAGTAATTTTATTGCTAGCAAGATCTTCATACGTTAATCAAGAGTATAAAGCTGAGCACAATGGCTCATATCTATAATCCCAGCATTCAGGAGGCCAAGGTGAGAGGGTCATTTGAGCCCAGGAGTTTGAGACCAACCTGAACAAAACAGGAAGACCCCGTCTATAGAAAACATAAAAGTAAATTAGCTGCGCGTGGTGGCACGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGGGGATCACTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGTCACTGCATTCTACCCTGGGCACCAATGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATACACACACACACACACACAAATCATAGGCTTGGATTCTACTGATGGGTGGAAAAAAGAAATGTCTCAGTGGGACCTCCTAACTGCTCTCTCTGCTTCCACTCCCAGTCCCCTCAATTGTGTTCTCCTCATGAAAGCCAGAATGGTCTTTTAGAATACAAAGCAGCTCAATCCACTTCCCTGACTGAAATGCTTAAATAGCCTGCAAGGCCTTTATGATCTGGCCCTTTCTGCCTCTCCAAACTCAAATCCTTCCTACCACTTTTCCCCCTTTTACACTTCACTCCAATCACACTGACTTGCTTACTGATGCTTGAACAAAAGTCAAGCTTCATCCCACTTCTGGGCCTTTGCACATGTGCTCCCTCCAACTGAAAAGCTCTTCCACCAGACCTCTGCGTGTCACTTCACTCAGGCTTCTGCTTAAATGTCTTTTGGAAAGTCTCCCTGGCTCCCTATGTACAATTGTCTCTCAACCCCGGATTCCCTTGTCCCCAGCATGCTCTCTGACCCTTTGTTCTGCTGTAATTTTGTTCACAGCACCTGGTGCATTTTTATCTGTTTATTTAGCTTACTGCCCCCCAACTATTAGAATCTTTTCTTTTCAACTGTGGTTTTATATTCAGTGAAATACAGAGATTTCAAATGTCCAATTCAATGCATTTTGATAACTATATATACATATTTTTAACCATAACCCCAATTAAAACAGAAAATGTTCATCACCCCAGAAAAGTGATTCACAAAGCACATTTATTTTTTGGACACAGGGTCTCATATCATTGCCCAGGCTGCAGTGCAGTGGCACAATCATGGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGCGATCCTCCCACTACCTTAGGCTCCAGAGTAGCTGAGACTACAGGTGCATGCCACCACACCCATCTAATTTTTAAATTTTTTGTAGAGACAAGATCTCCCTACGTTGTCCAGGCTGGTCTTGAACTGGGCTCAAGCAATCTTTCTGCCCTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCCAGCAAACACTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTTGTTGCCCAGGCTGGAGTACACTGATGAGATCTCAGCTCACTGCAATCTCCACCTCCCAGGTTCAAGCGGTTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAATAGAGATG
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CAGGCTGACTACCTCCCATGTAAGGTCATACTTCTTTCTATCCTCAATTGACCTTCCCCAAGTTTTAAGTAGTTGAACTCTTAGGCTAGGACAACAAACCAAGATTCGTTCAATGGTGACATGATAAAGAGTGAAATCTGTCTGGGGAAGAGAGATCATCTCTGTGTGACATTACTTGGACCCCAAAGAAACCGAGCCAGCAGACCTGGATTCTTTGCACCATGCCCTAACTATACGAGGGTCATATTCATTGAGACCCATCCCTGTGATAGTCTATCTGGGTTCAGGCTAGTGATACCTGGATAGCAAGATGTCTAGCTATAGTCATAGACTATAACTTATGAAACATTAAGATAAAAAATTCATCAAACCTTCATGGTTTTAAGTTACAAATACAAGGTAGTATAGGGCCATAGCTAAGCATACAGGCTCTGGTACTGGGTTTCCTGGGGTTCAAATCTTGGTTCTGCCATTTACCAGCTATCTGACCTTGTATAAGTAACCTTTTCAATACCTTAGTTTCTTCATGTGTAAAATGGGGCCGGTAACAGTCTCTCTCTCTCTCATAAGGTCGTTGTGAACCTTGTGTGTGTGTTAAATTACTTAATACATATAGTTCATAGCACAGAGTTAAGGGATCAAATATTAAGTTTATCATGAAGTATGAAAAAAAACTCTGCCTCCTAGGCGTATGTGGTAATTCTGTATTTCCCATTCAATTTTGCTTTGAGCTTAACAAGAATTGCCCCCTAAGTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGACTCTTGCTCTGTCTCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGTCTCCTGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGTGCGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTTCTGACCTTGTGATCCACCCGTCTCGGCCTCCCGAAGTGGTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTAAGTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGTCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTGGTCTAAGTTCTTCAGCTTATTTTTACTTATTTATTTGAAACAGGGTCTTGCTCTGTCACCCAGGCTGAAGTGAAGTGGCATGATCATGGCTCACTGCAGCCTCAAACTCCTGAGCTCAAGAGATCCTTCTGCCTCAGCCTCCTGAGTAGTTGAGATTAAAGGCGAACACTACCATGCCCACCTAATTTTTCAATTTGTAGAGATGGAAGTCTCACTATGTTGCCCACGATGGTCTCAAACTCCTGGACTCAAGCAATTCTCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGCAGCTGGCCTAGTTTATTTATAAGCAATGAGGTTGTAATAAACTTTCATTTGATTTCTGACAGGATGATAAAATGTTTATCTCTAATATAATCAGACTTTTTCTATTACATAGTTTGAAAACAGTGACATACACGTTTTGCAGTTTTATATATTTGCCTGAATCTGCAATCATATCAGGAATTGTGCCTCGAACAGGTAAATTTCCTTGACCCTCTTTGGCCACAAATTCCTTTAAGGCACGAGCTAAAATCCAAAATGATGGAGTCTAAAAGAATAAGAAAAAATTAACATTAAGTGGCGTTTTACTTTGACCCAAAGTTTTAGCAGCAATGTTTTTACTTTTGTTGTTGTTACCTGTTTGGTGATATTTATCCAGCGATCATCATTAAATATATCTTCAATACTGCTTGGGATCTAACAAAGGAACATGAAACATTTACTTACACAGTATTAAGAATTCGCCCATCTTTATTTTCAGTGCTATTTCTTCAGATATGTTCTTTGAATTCTCAAATTGTAATCAAATACAAACTTCTGATTGGTTTATAATTTTATTTAGAATCAGTACCATATGAAGATTTGATGGGGAAAGAATGGAAGAAAGACCTCTCCGGCCCACTGTTGCTACCATTTAATACCTATTCTCTTATACCATAAATGGGGTAAAGAAGGGGCCCCAGTAAATTATTTTATATAGTTACATCTGAAGACAAAACAGATTATAGACTCGCAGTATATCATGATTTTCCATCTTGTCAAAAATCTGAAACCCTTGCACCCTAATTAGTGACCGTTGAGACAACCACTCTGAAAAAAACTAAAACCATAAAGTAATTTTATTGCTAGCAAGATCTTCATACGTTAATCAAGAGTATAAAGCTGAGCACAATGGCTCATATCTATAATCCCAGCATTCAGGAGGCCAAGGTGAGAGGGTCATTTGAGCCCAGGAGTTTGAGACCAACCTGAACAAAACAGGAAGACCCCGTCTATAGAAAACATAAAAGTAAATTAGCTGCGCGTGGTGGCACGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGGGGATCACTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGTCACTGCATTCTACCCTGGGCACCAATGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATACACACACACACACACACAAATCATAGGCTTGGATTCTACTGATGGGTGGAAAAAAGAAATGTCTCAGTGGGACCTCCTAACTGCTCTCTCTGCTTCCACTCCCAGTCCCCTCAATTGTGTTCTCCTCATGAAAGCCAGAATGGTCTTTTAGAATACAAAGCAGCTCAATCCACTTCCCTGACTGAAATGCTTAAATAGCCTGCAAGGCCTTTATGATCTGGCCCTTTCTGCCTCTCCAAACTCAAATCCTTCCTACCACTTTTCCCCCTTTTACACTTCACTCCAATCACACTGACTTGCTTACTGATGCTTGAACAAAAGTCAAGCTTCATCCCACTTCTGGGCCTTTGCACATGTGCTCCCTCCAACTGAAAAGCTCTTCCACCAGACCTCTGCGTGTCACTTCACTCAGGCTTCTGCTTAAATGTCTTTTGGAAAGTCTCCCTGGCTCCCTATGTACAATTGTCTCTCAACCCCGGATTCCCTTGTCCCCAGCATGCTCTCTGACCCTTTGTTCTGCTGTAATTTTGTTCACAGCACCTGGTGCATTTTTATCTGTTTATTTAGCTTACTGCCCCCCAACTATTAGAATCTTTTCTTTTCAACTGTGGTTTTATATTCAGTGAAATACAGAGATTTCAAATGTCCAATTCAATGCATTTTGATAACTATATATACATATTTTTAACCATAACCCCAATTAAAACAGAAAATGTTCATCACCCCAGAAAAGTGATTCACAAAGCACATTTATTTTTTGGACACAGGGTCTCATATCATTGCCCAGGCTGCAGTGCAGTGGCACAATCATGGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGCGATCCTCCCACTACCTTAGGCTCCAGAGTAGCTGAGACTACAGGTGCATGCCACCACACCCATCTAATTTTTAAATTTTTTGTAGAGACAAGATCTCCCTACGTTGTCCAGGCTGGTCTTGAACTGGGCTCAAGCAATCTTTCTGCCCTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCCAGCAAACACTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTTGTTGCCCAGGCTGGAGTACACTGATGAGATCTCAGCTCACTGCAATCTCCACCTCCCAGGTTCAAGCGGTTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAATAGAGATG
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Task1_train_22798
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A variant has been detected on Chromosome 16 in NAE1 (NEDD8 activating enzyme E1 subunit 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
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ATTTAGCTTTAATACAGGATGCAATGTATAAACACAGACAGTACACCTCTAAGTTCTTAAACTACCAAACATATGAAGATTTACAAGATTACAAAAATTAGTTAACTTTTTTCTCAGAGAAATAATACACGTTTTTAAAGTCAAAGCTTTTCAAGCAATCAAAACACAGGGGCATCATTAGATGCTCACATCCAACTATATTCTCTAATTGTTTACCTTGCCGATACTGCTTCTTTGAAGGAAGAAACTAAAGTGAACAGAATAAAGGAAAAAAAAGTAAAGCTTACTGACTATAAAGGAAAAGTTGTTTGTAATAGCATGCATATTTCATTCACAGTATAAAACAAACTATATTGTGATTACAGACTGTAATGGCCTTCCTGGAGGAAGAAAATCAGATGGAACTTATAAAGAAAGATAGGCTAATAAATCAATGTTTCTTTCCCAAATTGTGTACCACAGCATGTGAATTTCACAAGATCCTCTGAGAGAAAAGGGTTCCTTGGCTAAAAACGTTTGGGAAACACCGGCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTAATACAGTGAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGTAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACGGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAGTTTGGGAAACACCATATACTATATTTCCCTCTTGGAAATTCATAATACACATAATACATGTGATACTAAAATCTTATGGTAAAGAAATTTTTACTTCATTTGATCCATTTCCCAAACTAATTTCACTATGGAACCCATTGGCCCATTTAACAGCTCTTATCGTTCCCTAGAACCGGTGTTCCACAGACCACTCTCGGTGTATTGAACCATTTGTTTTTGCACGTAACTGTAACAGATTTATTCAGGCTTCCTCCCACACATACCCTTGACATGTCTCAAGGCCCAGATATGAGGCTGCTGATCAGAGTCAGGATGCCACTTTTCGGTATAAGCTCACTGGCTCCATAAGAAGAAACCTTATTTTTATCACTTTCTACTCTAACCCACCAAGTAAGCAAAGATAACAAGACTTCTTGGTATATATCAATAAAAAAGCTGTGCTGTGCCTGGCAGAAACTGGCACTACGATCCAAAGAAAAGGCATCAAAACTAAATATGAACTAATTGCTGGTTTCCCTTATATTTACTCACTGTTGTTGTTACTGACAAACACAATGAGAGATACCAGACTTCAAGTCCCTGAAAAGGTGAGCTTTAAATCCAAATTTGGGCATGTTCTGAAAGTCTAAATATAATCTTTAAAGAATAATATACAGGCCATCTTTAAAACAGCATTTTTGTTGACACTGTAAAGAGAGATACCCCTAGACTAAGCCTAAAAGACATCACAAACAACAGGCATTATTGTTAATTATATGCTAACACCTACGGATCAATACAAGAGCTTAGGAAGTGCCCATATTCCATGAATAAAGGAATAACGACTACTCCTTTGTATTAATAACAATAAAGACAGTAATGATGGGTAACATTTATTAATGCCCTATTTGCCAGATGCTGTACTAGCACTTTACCTATATTATCTCACTTCCTCACCATAATCCCAAACATAAGGATGATTTCCACTGAGAGTCGAGTCACCCTGACTGAGGAGGTGAAGCTAAGACTCAGGCCTTGCCTTCCTTAACGTGAATATATTTGAAGAGAATAGAACATACTTGTTTCCAGCATCTTCTCCGCTGACCTGATTTCCATCAATAATTGTAAACGAACCAATACCTGAGAGCCAAAACAGAGTCAGTCAGGAATACATAGTTCTAGGTCATAAACTTAAAGAAGTATATTTAGAACACAACCACAAACCTACGTTACCTGGTAGTACCAAGTTTTTAAGAATTTCAGTTCCTGTGGCTGTTGCATTTATTAGGCAAACATGAGCAGATTCTAAAGCCTCTTGCCCATGATCACCCCACAACCTACAAAACAGACACAAATTTGATGTTTTTAAAACTTTCATGAAAATACAGCTTTCTTATTTGAATGGTGATCTTTAAACTTTCCTTGCATAGACTGATATGATAACCACAGAATACAGGTAAGACGGGAACAGATATTAGTATAGTGATTATACAGTAATCTAGAACTCAGGTTGATGCCTTGAATGGTTAGGGGAAAAGAGGGAGAGGGTCAAATTAGAAACAGAAACTTGGTCTTCCAGCCCCTTATCAGCCTGGGCACAAGAGCGACACTCTGTCTCAAAACAAACAAACAAACATTTAAAAAGCGTCTTTGGATTTAAACCCTCATCTGTTTTCTATTTCATTTATTCTTTGTTTTGTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGTAGTGGCATGATCTCAGCTCACTTGGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCCTATTTCATTTATTCTTAAATTATGTTAGATGTGCCAGGTGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCGTGACTAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCACCTACTCGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGAAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAATTATATTAGATGCATTTAAGTTAAGTTAGATGCATTTAAGATCTCGACATAGGGCTTATTACTGTGACTTCTGCAAAAGCTTTACCAAGAAAACTGAATTATCATCTGAAAAGCCTCACATCAACTTCTACAGGAGTGCTTTAAAGTATATTACCCAATGAACATTCTAATAGAGTGATTAATGTGCCTTCCCTGTTACCTGATTTAAAGCAGATTACCCCTTATTATGTAGTCAGTATGTCCTCCAGAGCATGTCAAGCAACTGCCTTGTTTTTTGTTTTTGTTTTTGATACAGGGTCTTACTATGTTATCCAGACTGGTCTTGAACTCCTGGGTTCAAGCATTTCTCTCGCCTCAGCCTCTAGAGTTGCTGGGACTACAGGCACAAGCCACTGTACCTGGCTTCATTTGTTTTTGTTTGCTGAGCATCCATCTTTCCACTCCACTGTATGCTCCATAAGGGCCCAGACAGCTGTCAAATGTATGGAGGAATCGCCTAGAAGAACCAGATGGACCGTAAACGCCTGTTTTCTCCATCAAAGTATGGCACGTAGAAGACACCTGACATATATGGTTGATGGATGCTTAGATAGTTGGAGAGTAAATTTAAGAATACTGGTGCATCTTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCAGGCACAGTGGCACGCACCTATAATCCCAGCTACTAGGGAGGCTGAGGCATGAGAATCGCATGAACGCAGGAGGCGGAGATTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGCGCAACACAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATACTGGTGCATCTCAAGCAGGGTGAGATAGTGTGTGTGCCTGTAGTCCCAGCTGCTTGGGAGACTGAGGCAGGAGGATCACTCCAGCCCAGGAGATCAAGGCTGTGGTGTGCCAATAATCATACCTGCGAACAGCCACTGCACTCCAGCCTGGGTAACATACTGAGACCCACCTCAAAAATAAAACAAAAAGAATACTGAGGCCAGGCACTGTGGCTCATGCCTG
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ATTTAGCTTTAATACAGGATGCAATGTATAAACACAGACAGTACACCTCTAAGTTCTTAAACTACCAAACATATGAAGATTTACAAGATTACAAAAATTAGTTAACTTTTTTCTCAGAGAAATAATACACGTTTTTAAAGTCAAAGCTTTTCAAGCAATCAAAACACAGGGGCATCATTAGATGCTCACATCCAACTATATTCTCTAATTGTTTACCTTGCCGATACTGCTTCTTTGAAGGAAGAAACTAAAGTGAACAGAATAAAGGAAAAAAAAGTAAAGCTTACTGACTATAAAGGAAAAGTTGTTTGTAATAGCATGCATATTTCATTCACAGTATAAAACAAACTATATTGTGATTACAGACTGTAATGGCCTTCCTGGAGGAAGAAAATCAGATGGAACTTATAAAGAAAGATAGGCTAATAAATCAATGTTTCTTTCCCAAATTGTGTACCACAGCATGTGAATTTCACAAGATCCTCTGAGAGAAAAGGGTTCCTTGGCTAAAAACGTTTGGGAAACACCGGCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTAATACAGTGAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGTAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACGGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAGTTTGGGAAACACCATATACTATATTTCCCTCTTGGAAATTCATAATACACATAATACATGTGATACTAAAATCTTATGGTAAAGAAATTTTTACTTCATTTGATCCATTTCCCAAACTAATTTCACTATGGAACCCATTGGCCCATTTAACAGCTCTTATCGTTCCCTAGAACCGGTGTTCCACAGACCACTCTCGGTGTATTGAACCATTTGTTTTTGCACGTAACTGTAACAGATTTATTCAGGCTTCCTCCCACACATACCCTTGACATGTCTCAAGGCCCAGATATGAGGCTGCTGATCAGAGTCAGGATGCCACTTTTCGGTATAAGCTCACTGGCTCCATAAGAAGAAACCTTATTTTTATCACTTTCTACTCTAACCCACCAAGTAAGCAAAGATAACAAGACTTCTTGGTATATATCAATAAAAAAGCTGTGCTGTGCCTGGCAGAAACTGGCACTACGATCCAAAGAAAAGGCATCAAAACTAAATATGAACTAATTGCTGGTTTCCCTTATATTTACTCACTGTTGTTGTTACTGACAAACACAATGAGAGATACCAGACTTCAAGTCCCTGAAAAGGTGAGCTTTAAATCCAAATTTGGGCATGTTCTGAAAGTCTAAATATAATCTTTAAAGAATAATATACAGGCCATCTTTAAAACAGCATTTTTGTTGACACTGTAAAGAGAGATACCCCTAGACTAAGCCTAAAAGACATCACAAACAACAGGCATTATTGTTAATTATATGCTAACACCTACGGATCAATACAAGAGCTTAGGAAGTGCCCATATTCCATGAATAAAGGAATAACGACTACTCCTTTGTATTAATAACAATAAAGACAGTAATGATGGGTAACATTTATTAATGCCCTATTTGCCAGATGCTGTACTAGCACTTTACCTATATTATCTCACTTCCTCACCATAATCCCAAACATAAGGATGATTTCCACTGAGAGTCGAGTCACCCTGACTGAGGAGGTGAAGCTAAGACTCAGGCCTTGCCTTCCTTAACGTGAATATATTTGAAGAGAATAGAACATACTTGTTTCCAGCATCTTCTCCGCTGACCTGATTTCCATCAATAATTGTAAACGAACCAATACCTGAGAGCCAAAACAGAGTCAGTCAGGAATACATAGTTCTAGGTCATAAACTTAAAGAAGTATATTTAGAACACAACCACAAACCTACGTTACCTGGTAGTACGAAGTTTTTAAGAATTTCAGTTCCTGTGGCTGTTGCATTTATTAGGCAAACATGAGCAGATTCTAAAGCCTCTTGCCCATGATCACCCCACAACCTACAAAACAGACACAAATTTGATGTTTTTAAAACTTTCATGAAAATACAGCTTTCTTATTTGAATGGTGATCTTTAAACTTTCCTTGCATAGACTGATATGATAACCACAGAATACAGGTAAGACGGGAACAGATATTAGTATAGTGATTATACAGTAATCTAGAACTCAGGTTGATGCCTTGAATGGTTAGGGGAAAAGAGGGAGAGGGTCAAATTAGAAACAGAAACTTGGTCTTCCAGCCCCTTATCAGCCTGGGCACAAGAGCGACACTCTGTCTCAAAACAAACAAACAAACATTTAAAAAGCGTCTTTGGATTTAAACCCTCATCTGTTTTCTATTTCATTTATTCTTTGTTTTGTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGTAGTGGCATGATCTCAGCTCACTTGGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCCTATTTCATTTATTCTTAAATTATGTTAGATGTGCCAGGTGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCGTGACTAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCACCTACTCGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGAAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAATTATATTAGATGCATTTAAGTTAAGTTAGATGCATTTAAGATCTCGACATAGGGCTTATTACTGTGACTTCTGCAAAAGCTTTACCAAGAAAACTGAATTATCATCTGAAAAGCCTCACATCAACTTCTACAGGAGTGCTTTAAAGTATATTACCCAATGAACATTCTAATAGAGTGATTAATGTGCCTTCCCTGTTACCTGATTTAAAGCAGATTACCCCTTATTATGTAGTCAGTATGTCCTCCAGAGCATGTCAAGCAACTGCCTTGTTTTTTGTTTTTGTTTTTGATACAGGGTCTTACTATGTTATCCAGACTGGTCTTGAACTCCTGGGTTCAAGCATTTCTCTCGCCTCAGCCTCTAGAGTTGCTGGGACTACAGGCACAAGCCACTGTACCTGGCTTCATTTGTTTTTGTTTGCTGAGCATCCATCTTTCCACTCCACTGTATGCTCCATAAGGGCCCAGACAGCTGTCAAATGTATGGAGGAATCGCCTAGAAGAACCAGATGGACCGTAAACGCCTGTTTTCTCCATCAAAGTATGGCACGTAGAAGACACCTGACATATATGGTTGATGGATGCTTAGATAGTTGGAGAGTAAATTTAAGAATACTGGTGCATCTTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCAGGCACAGTGGCACGCACCTATAATCCCAGCTACTAGGGAGGCTGAGGCATGAGAATCGCATGAACGCAGGAGGCGGAGATTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGCGCAACACAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATACTGGTGCATCTCAAGCAGGGTGAGATAGTGTGTGTGCCTGTAGTCCCAGCTGCTTGGGAGACTGAGGCAGGAGGATCACTCCAGCCCAGGAGATCAAGGCTGTGGTGTGCCAATAATCATACCTGCGAACAGCCACTGCACTCCAGCCTGGGTAACATACTGAGACCCACCTCAAAAATAAAACAAAAAGAATACTGAGGCCAGGCACTGTGGCTCATGCCTG
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Task1_train_22799
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The following genetic variant occurs in HSF4 (heat shock transcription factor 4) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Cataract 5 multiple types
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AGGCCTTTTCTGCACGGCTCTAACCCAAGTTGCGAATGTGAGCTGGAAGGCATGCTGCCACCTTATCTGTCCGCCTGCCTCGACCACATTCACAACCTACGGCTGGAATTTGAGCCATCGAGGAAGCCGAGCCGCCGGGCGGCCATCGAGCTGCTGATGGTTCTGGCGGGCCGTGCCCCGGGGCTGCGAGGCCTGCGCCTGGAGTGCCGCGGAGAAAAACCGCTCTTCGACGCGGGCCGCGACGTCCTGGAGGCTGTGCACGCTGTATGCGGGGCGGCCAGCCAGCTACGCCACCTCGACCTGCGGCGCTTGTCCTTCACACTGGACGACGCGCTGGTGCTGCAGGCGGCGCGCAGCTGTCCCGAGCTCCACAGCCTTTTTCTGGACAACAGTACCCTAGTGGGCAGCGTGGGTCCCGGCTCAGTGCTCGAGCTACTGGAGGCCTGCCCGCGCCTGCGCGCTCTCGGCCTGCACCTAGCCAGTTTGTCGCACGCCATCCTCGAAGCACTGGCGGCGCCAGACCGAGCGCCTTTCGCGCTCTTGGCTCTGCGGTGCGCGTGCCCCGAAGATGCACGCGCGTCCCCGCTGCCCAACGAAGCCTGGGTCGCGTTGCGCCGCCGCCACCCTGGGCTGGCAGTGGAGCTGGAGCTGGAGCCCGCGCTGCCCGCTGAGAGCGTGACGCGCGTCCTGCAGCCAGCCGTCCCCGTGGCTGCGCTGCGCCTCAACCTCTCAGGCGACACCGTAGGCCCAGTGCGCTTCGCAGCACACCACTACGCCGCAACCCTGTGCGCGCTCGAGGTGCGCGCAGCCGCTTCGGCCGAGCTGAACGCCGCGCTGGAGGAGCTGGCGGCGCGCTGCGCGGCCCTGCGCGAGGTGCATTGTTTCTGCGTGGTGAGCCACTCGGTGCTGGACGCCTTCCGCGCGCACTGCCCGCGCCTGCGCACCTATACCCTCAAGCTCACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGT
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AGGCCTTTTCTGCACGGCTCTAACCCAAGTTGCGAATGTGAGCTGGAAGGCATGCTGCCACCTTATCTGTCCGCCTGCCTCGACCACATTCACAACCTACGGCTGGAATTTGAGCCATCGAGGAAGCCGAGCCGCCGGGCGGCCATCGAGCTGCTGATGGTTCTGGCGGGCCGTGCCCCGGGGCTGCGAGGCCTGCGCCTGGAGTGCCGCGGAGAAAAACCGCTCTTCGACGCGGGCCGCGACGTCCTGGAGGCTGTGCACGCTGTATGCGGGGCGGCCAGCCAGCTACGCCACCTCGACCTGCGGCGCTTGTCCTTCACACTGGACGACGCGCTGGTGCTGCAGGCGGCGCGCAGCTGTCCCGAGCTCCACAGCCTTTTTCTGGACAACAGTACCCTAGTGGGCAGCGTGGGTCCCGGCTCAGTGCTCGAGCTACTGGAGGCCTGCCCGCGCCTGCGCGCTCTCGGCCTGCACCTAGCCAGTTTGTCGCACGCCATCCTCGAAGCACTGGCGGCGCCAGACCGAGCGCCTTTCGCGCTCTTGGCTCTGCGGTGCGCGTGCCCCGAAGATGCACGCGCGTCCCCGCTGCCCAACGAAGCCTGGGTCGCGTTGCGCCGCCGCCACCCTGGGCTGGCAGTGGAGCTGGAGCTGGAGCCCGCGCTGCCCGCTGAGAGCGTGACGCGCGTCCTGCAGCCAGCCGTCCCCGTGGCTGCGCTGCGCCTCAACCTCTCAGGCGACACCGTAGGCCCAGTGCGCTTCGCAGCACACCACTACGCCGCAACCCTGTGCGCGCTCGAGGTGCGCGCAGCCGCTTCGGCCGAGCTGAACGCCGCGCTGGAGGAGCTGGCGGCGCGCTGCGCGGCCCTGCGCGAGGTGCATTGTTTCTGCGTGGTGAGCCACTCGGTGCTGGACGCCTTCCGCGCGCACTGCCCGCGCCTGCGCACCTATACCCTCAAGCTCACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGACTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGT
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Subsets and Splits
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