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_26400 | An alteration has been detected in DNMT1 (DNA methyltransferase 1) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | ATTCAAGACCAGCCTAGGCAACATGGCAAAATCCCATCTACAAAATGTTTTTTTTTAATTAGCTGGGCATGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTAAGGTGGGAAGATCACTTGAGCCCAGTAGGTTGAGAATGCAGTGAGCTACAATCATGCCACTGCATTCCAGACTGGGTGACAGAACGAGACCCATCTCAACAACAACAACAACAACAACAACAACAAAACCAAGACTTTTAAAAATGTGCCTATTTGGCTGGGTGCAGTGCCTCATGCCTCTAATCCCGGCAGTTTGGGAGGCCAAGACAGGAGGACCACTTGAAGCCAGGAGTTTGAGACCAGGCAAGGCAACACAGCAGGACCCTGTCTCTACAAAAAAAAAAAAAAAAAGCAATATTCAACCTCATTAGAAATATGGTAAGTGAGAGAAATAAAATTCCCTTCCCATTCTCCAGATGGGTTAAGAAGCCAGATAGGTGGTGTGAGGAAAGAAGAACGCACACTGCTCAAATGGTAAGTTGGTAGAACCATTTTGGAGAGCAATCTTCTAGATCAAAGTTAAGAATACACACCCACAACCCAGCAACGCTACTTCTAAGCAGATACACTCGCGAGAAGCTTTGCTCAAGGATGCTGCCACATATTTACAATACTGAAGAGGTGCCTATCATTGAGGAGTAAGTTAGGATATTCATTTAACAAAATACTACAGAATATTTAAAATGAAATAACTAGATCTACCAGTATCAACACGTAACAGTTACACAAATAAAAACAAATGATTTTAGGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAGATCACTTAAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCGGGTATGGTGGCGGGTGCCTATAATCCCAGCCACTCGGGAGGCTGAGGTGGGAGAACTGATTGAACCCGGGAGGCGGAGGTTACGGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGAGAGACTGTCTCAAAAAAATTAAAAAAAAAAAAAAAAGATTTTAGAAGTTATAAAACATTGGACACACGTGTGTTAACCAAGAAAAATAAAATAAAACCAAAATAACAATGGTGAGGACATGCAGGCTCCTGTTAAGAGATGCCAGCGGGGATCAAAAGCAAAGCCCTGAAGCCAGTCTTTATCCAAAAGAAAGTCAGGTAATAGGTATCAAAATAGTCCTGGTCTTTGGGTCATAGGACTAGGAAGTTAGTTCCTCCTGAGTGAAGTAAACATATATTTTAAAAACTCACAGAAAGGGACGCCTCCTGAGGGCCTCAAATCTAAGCTGGACAAAGTGCCCACTTAGATGTGAATACCCCTTTAGCAGTCCAACAGGGGCCTTCAGACTGTGAGATGCAGGCACAGCAGAGCCACCCAGAAGCCAGGCTCTTCAATTAAGGACAGTGGCATTATCAGCAAAGCACCCAAGCATGCCTCTGTGGACATCTGTCCTATTGACGTTCAATGAAGTATGCAGGGTCCTCCCAGACCACTAACTAATTTCTGTCTCAGGGGTCACATTTGAGCAGCCAGAGTCTCAAGCCACAGAGAGAAAGATGGAGCAGTCCTCAGATCAGGCCAGAGGCTGGGCCACCTTAGGGGAGCGGGAGCACCCACAGGTGAGGTTACCTCACAGACGCCACATCGCCGGCGCTTAAAGGCGTTCTCCTTGTCTTCTCTGTCATCCTTTTCAATTTGCTCTGCGAAGAAAGTATCGAAGATCTGGTAGACCAGCTTGGTGGTGGTGGCTTTCGTGGGTCCCCTGTCCTTCTCCCTGGTAGAATGCCTGATGGTCTGCCGCCTCGCCTGGGCTCGCCTACGGGAGAGGTTCCAGCATCTCAGAGGACTGGGACAGAGGATGTGGGCCATGCTCTACCCTCCCCGGTCTCCAGTCTTCACTCTGGTCCCTGCCGCATCCTTACCTCTGTCCCAGCGTGACCCCAGCCAGCTTGATCAGGTCCCGCATGCAGGGTGTCAGGAAGATGGGCTGCTCATCACTGTCCCCGGCCTCGTCATAACTCTCCACCTGCTCCACCACAAACTGCGCGTGTCGCAGGAGGGAGTCCTCTGTGAAGCGGTTCAAGTTGAGGCCAGAAGGAGGAACCGTGGTCTTGAAAGAGAACAGGTTTCTCTCATGCTTAAGCCAAACTGGCCTAAATCCAACTGAAGAACAGTGTCTGCTGGTTCTGAAGGCAAGTTTCCAGTGGGAATCCCGGATGCTGAGGACCCTCGATCTCTTACCTCGATCTTGTTGATCAGGTCCTCATAGGTCGAGTCGGAATTGCTCTGCAGGAACTCCACCACAATCTTGCTGATGTAGATCTTCTCCTGCATCAGCCCAAATATGGGCGCATACTCGGGACTGGGATCCATCAGAATGTATTCGGCAAATGCTGGGGTGAACAGAGGAGGTGTGGAAAAGGGGCTGGAATCTGATGGCGCCTACAGTGGCCACAGGGCATGGAGGAGTCTACCAAACTCACCCAACAGTCTAAAAGTCATCCCGTACCCAAATGTCAGAAACATAGGGCACAACACATCATAGCTGGCTTGTTCTGAAGAAGCCTGTCTGAGCCAGCCAGAGAGCGAAGACTAGCTGAGTAGGCCTTCATTGAGCTCATCTCTGGTGTTTGGAATTCAGTCTGGGTTTGGGTTGCAAGAATAAGACCTGCTCTTTTTTTTTTTTCAGGGGAGGACAGAGTCTTGCTCCGTCACCCAGGCTGGAGGGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGTCTGCTGGGTTCACGTGATTCTCCTGCCATAGCCTCCCAAGTAGCTGGGATTACAGGTATGCACCACCATGCGTGGCTAATTTTTGTATTTTTGGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTAGGCTGGTCTCGAATTCCTGGCCTCAAATGATCCCCCCAACTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATATCCGGCCAAGACCTGCTCTTACAACTGGAGAGTCAGTTCCAGAGCCAGTCATAACTAACACAAGAGGCTACCCCAACTGAACCTGCTAAGGTTCCCAGTCACATGGCCTTCTGCAAGCCTGCTGAGAATTCCCACCAGAGCCCCGTCAGCCCCCAGGAAGGAGAACATGAAGGCCCCTTTCAGACCCCGGCCAGCCTATGATGGGCCACACACTTACAGGTGCTGAAGCCGATGAGGGCCTTTTCACCTCCATCAAAGCCAGTGATCCACCATTCATTTATGGGGCCAAGATTTTTGCCATTAACACCACCTAGAGCAGAAAAAGGAAATGGACTAAAGGCTCTGACTCACATCCCAAACCCAGGAGGCGCTCTAAGCGCCCACTCAGCAGACATCCCATCAGCCAGGTCGGGTGCTCCTCAGTCATCACAATGACTTGGCCTACAGCTGCTCCTGGCACAAAGTCTCACACCCTAACTTTAAGAGGCAGCAGCAACTCCAGCTGACTATTGCTTCATAAGTATGTTTTTTATTTATACATATATATAAGTATATATGTATACTATATATATATGCTATATATTTTTTTTTAATAGAGGCAGGCTCTTGCTATGTTGTCCAGGCTCGTCTCAAACTCCCGGGCTCAAGTGATCCTCTGGCCTCAGACCCCCAAAGTGCTAGGATTACAGATGTGAGCCACCCTGCCTGGCTGTTTTTAAAGTGTGCCCCAAACATAATCCCGGACTATTCCTTACCTTCAAGAGATGGGTCATCATCATAGATTGGTTTTGCTGAACCAGAAAAGAAGAGTTCGATATTCTTCTCGATGAGGCCGGTGTCGATGGGACACAGGTGACCGTGCTTACAGTACACACTAGACAGGAAACAAAGCACATGCTTACCAGCTAAGCCGTGAAGGCGGGTCTTCGTGCAGACTTCAGATCAGGCACGAGGCAATGAGAGAATGTACAAGTCTGACACTCTTTTTTTGTTTGTTTTTGAGACAGAGTCTTG | ATTCAAGACCAGCCTAGGCAACATGGCAAAATCCCATCTACAAAATGTTTTTTTTTAATTAGCTGGGCATGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTAAGGTGGGAAGATCACTTGAGCCCAGTAGGTTGAGAATGCAGTGAGCTACAATCATGCCACTGCATTCCAGACTGGGTGACAGAACGAGACCCATCTCAACAACAACAACAACAACAACAACAACAAAACCAAGACTTTTAAAAATGTGCCTATTTGGCTGGGTGCAGTGCCTCATGCCTCTAATCCCGGCAGTTTGGGAGGCCAAGACAGGAGGACCACTTGAAGCCAGGAGTTTGAGACCAGGCAAGGCAACACAGCAGGACCCTGTCTCTACAAAAAAAAAAAAAAAAAGCAATATTCAACCTCATTAGAAATATGGTAAGTGAGAGAAATAAAATTCCCTTCCCATTCTCCAGATGGGTTAAGAAGCCAGATAGGTGGTGTGAGGAAAGAAGAACGCACACTGCTCAAATGGTAAGTTGGTAGAACCATTTTGGAGAGCAATCTTCTAGATCAAAGTTAAGAATACACACCCACAACCCAGCAACGCTACTTCTAAGCAGATACACTCGCGAGAAGCTTTGCTCAAGGATGCTGCCACATATTTACAATACTGAAGAGGTGCCTATCATTGAGGAGTAAGTTAGGATATTCATTTAACAAAATACTACAGAATATTTAAAATGAAATAACTAGATCTACCAGTATCAACACGTAACAGTTACACAAATAAAAACAAATGATTTTAGGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAGATCACTTAAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCGGGTATGGTGGCGGGTGCCTATAATCCCAGCCACTCGGGAGGCTGAGGTGGGAGAACTGATTGAACCCGGGAGGCGGAGGTTACGGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGAGAGACTGTCTCAAAAAAATTAAAAAAAAAAAAAAAAGATTTTAGAAGTTATAAAACATTGGACACACGTGTGTTAACCAAGAAAAATAAAATAAAACCAAAATAACAATGGTGAGGACATGCAGGCTCCTGTTAAGAGATGCCAGCGGGGATCAAAAGCAAAGCCCTGAAGCCAGTCTTTATCCAAAAGAAAGTCAGGTAATAGGTATCAAAATAGTCCTGGTCTTTGGGTCATAGGACTAGGAAGTTAGTTCCTCCTGAGTGAAGTAAACATATATTTTAAAAACTCACAGAAAGGGACGCCTCCTGAGGGCCTCAAATCTAAGCTGGACAAAGTGCCCACTTAGATGTGAATACCCCTTTAGCAGTCCAACAGGGGCCTTCAGACTGTGAGATGCAGGCACAGCAGAGCCACCCAGAAGCCAGGCTCTTCAATTAAGGACAGTGGCATTATCAGCAAAGCACCCAAGCATGCCTCTGTGGACATCTGTCCTATTGACGTTCAATGAAGTATGCAGGGTCCTCCCAGACCACTAACTAATTTCTGTCTCAGGGGTCACATTTGAGCAGCCAGAGTCTCAAGCCACAGAGAGAAAGATGGAGCAGTCCTCAGATCAGGCCAGAGGCTGGGCCACCTTAGGGGAGCGGGAGCACCCACAGGTGAGGTTACCTCACAGACGCCACATCGCCGGCGCTTAAAGGCGTTCTCCTTGTCTTCTCTGTCATCCTTTTCAATTTGCTCTGCGAAGAAAGTATCGAAGATCTGGTAGACCAGCTTGGTGGTGGTGGCTTTCGTGGGTCCCCTGTCCTTCTCCCTGGTAGAATGCCTGATGGTCTGCCGCCTCGCCTGGGCTCGCCTACGGGAGAGGTTCCAGCATCTCAGAGGACTGGGACAGAGGATGTGGGCCATGCTCTACCCTCCCCGGTCTCCAGTCTTCACTCTGGTCCCTGCCGCATCCTTACCTCTGTCCCAGCGTGAACCCAGCCAGCTTGATCAGGTCCCGCATGCAGGGTGTCAGGAAGATGGGCTGCTCATCACTGTCCCCGGCCTCGTCATAACTCTCCACCTGCTCCACCACAAACTGCGCGTGTCGCAGGAGGGAGTCCTCTGTGAAGCGGTTCAAGTTGAGGCCAGAAGGAGGAACCGTGGTCTTGAAAGAGAACAGGTTTCTCTCATGCTTAAGCCAAACTGGCCTAAATCCAACTGAAGAACAGTGTCTGCTGGTTCTGAAGGCAAGTTTCCAGTGGGAATCCCGGATGCTGAGGACCCTCGATCTCTTACCTCGATCTTGTTGATCAGGTCCTCATAGGTCGAGTCGGAATTGCTCTGCAGGAACTCCACCACAATCTTGCTGATGTAGATCTTCTCCTGCATCAGCCCAAATATGGGCGCATACTCGGGACTGGGATCCATCAGAATGTATTCGGCAAATGCTGGGGTGAACAGAGGAGGTGTGGAAAAGGGGCTGGAATCTGATGGCGCCTACAGTGGCCACAGGGCATGGAGGAGTCTACCAAACTCACCCAACAGTCTAAAAGTCATCCCGTACCCAAATGTCAGAAACATAGGGCACAACACATCATAGCTGGCTTGTTCTGAAGAAGCCTGTCTGAGCCAGCCAGAGAGCGAAGACTAGCTGAGTAGGCCTTCATTGAGCTCATCTCTGGTGTTTGGAATTCAGTCTGGGTTTGGGTTGCAAGAATAAGACCTGCTCTTTTTTTTTTTTCAGGGGAGGACAGAGTCTTGCTCCGTCACCCAGGCTGGAGGGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGTCTGCTGGGTTCACGTGATTCTCCTGCCATAGCCTCCCAAGTAGCTGGGATTACAGGTATGCACCACCATGCGTGGCTAATTTTTGTATTTTTGGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTAGGCTGGTCTCGAATTCCTGGCCTCAAATGATCCCCCCAACTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATATCCGGCCAAGACCTGCTCTTACAACTGGAGAGTCAGTTCCAGAGCCAGTCATAACTAACACAAGAGGCTACCCCAACTGAACCTGCTAAGGTTCCCAGTCACATGGCCTTCTGCAAGCCTGCTGAGAATTCCCACCAGAGCCCCGTCAGCCCCCAGGAAGGAGAACATGAAGGCCCCTTTCAGACCCCGGCCAGCCTATGATGGGCCACACACTTACAGGTGCTGAAGCCGATGAGGGCCTTTTCACCTCCATCAAAGCCAGTGATCCACCATTCATTTATGGGGCCAAGATTTTTGCCATTAACACCACCTAGAGCAGAAAAAGGAAATGGACTAAAGGCTCTGACTCACATCCCAAACCCAGGAGGCGCTCTAAGCGCCCACTCAGCAGACATCCCATCAGCCAGGTCGGGTGCTCCTCAGTCATCACAATGACTTGGCCTACAGCTGCTCCTGGCACAAAGTCTCACACCCTAACTTTAAGAGGCAGCAGCAACTCCAGCTGACTATTGCTTCATAAGTATGTTTTTTATTTATACATATATATAAGTATATATGTATACTATATATATATGCTATATATTTTTTTTTAATAGAGGCAGGCTCTTGCTATGTTGTCCAGGCTCGTCTCAAACTCCCGGGCTCAAGTGATCCTCTGGCCTCAGACCCCCAAAGTGCTAGGATTACAGATGTGAGCCACCCTGCCTGGCTGTTTTTAAAGTGTGCCCCAAACATAATCCCGGACTATTCCTTACCTTCAAGAGATGGGTCATCATCATAGATTGGTTTTGCTGAACCAGAAAAGAAGAGTTCGATATTCTTCTCGATGAGGCCGGTGTCGATGGGACACAGGTGACCGTGCTTACAGTACACACTAGACAGGAAACAAAGCACATGCTTACCAGCTAAGCCGTGAAGGCGGGTCTTCGTGCAGACTTCAGATCAGGCACGAGGCAATGAGAGAATGTACAAGTCTGACACTCTTTTTTTGTTTGTTTTTGAGACAGAGTCTTG 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Task1_train_26401 | Given a variant located on Chromosome 19 and affecting DNMT1 (DNA methyltransferase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Inborn genetic diseases | TAAGGTGGGAAGATCACTTGAGCCCAGTAGGTTGAGAATGCAGTGAGCTACAATCATGCCACTGCATTCCAGACTGGGTGACAGAACGAGACCCATCTCAACAACAACAACAACAACAACAACAACAAAACCAAGACTTTTAAAAATGTGCCTATTTGGCTGGGTGCAGTGCCTCATGCCTCTAATCCCGGCAGTTTGGGAGGCCAAGACAGGAGGACCACTTGAAGCCAGGAGTTTGAGACCAGGCAAGGCAACACAGCAGGACCCTGTCTCTACAAAAAAAAAAAAAAAAAGCAATATTCAACCTCATTAGAAATATGGTAAGTGAGAGAAATAAAATTCCCTTCCCATTCTCCAGATGGGTTAAGAAGCCAGATAGGTGGTGTGAGGAAAGAAGAACGCACACTGCTCAAATGGTAAGTTGGTAGAACCATTTTGGAGAGCAATCTTCTAGATCAAAGTTAAGAATACACACCCACAACCCAGCAACGCTACTTCTAAGCAGATACACTCGCGAGAAGCTTTGCTCAAGGATGCTGCCACATATTTACAATACTGAAGAGGTGCCTATCATTGAGGAGTAAGTTAGGATATTCATTTAACAAAATACTACAGAATATTTAAAATGAAATAACTAGATCTACCAGTATCAACACGTAACAGTTACACAAATAAAAACAAATGATTTTAGGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAGATCACTTAAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCGGGTATGGTGGCGGGTGCCTATAATCCCAGCCACTCGGGAGGCTGAGGTGGGAGAACTGATTGAACCCGGGAGGCGGAGGTTACGGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGAGAGACTGTCTCAAAAAAATTAAAAAAAAAAAAAAAAGATTTTAGAAGTTATAAAACATTGGACACACGTGTGTTAACCAAGAAAAATAAAATAAAACCAAAATAACAATGGTGAGGACATGCAGGCTCCTGTTAAGAGATGCCAGCGGGGATCAAAAGCAAAGCCCTGAAGCCAGTCTTTATCCAAAAGAAAGTCAGGTAATAGGTATCAAAATAGTCCTGGTCTTTGGGTCATAGGACTAGGAAGTTAGTTCCTCCTGAGTGAAGTAAACATATATTTTAAAAACTCACAGAAAGGGACGCCTCCTGAGGGCCTCAAATCTAAGCTGGACAAAGTGCCCACTTAGATGTGAATACCCCTTTAGCAGTCCAACAGGGGCCTTCAGACTGTGAGATGCAGGCACAGCAGAGCCACCCAGAAGCCAGGCTCTTCAATTAAGGACAGTGGCATTATCAGCAAAGCACCCAAGCATGCCTCTGTGGACATCTGTCCTATTGACGTTCAATGAAGTATGCAGGGTCCTCCCAGACCACTAACTAATTTCTGTCTCAGGGGTCACATTTGAGCAGCCAGAGTCTCAAGCCACAGAGAGAAAGATGGAGCAGTCCTCAGATCAGGCCAGAGGCTGGGCCACCTTAGGGGAGCGGGAGCACCCACAGGTGAGGTTACCTCACAGACGCCACATCGCCGGCGCTTAAAGGCGTTCTCCTTGTCTTCTCTGTCATCCTTTTCAATTTGCTCTGCGAAGAAAGTATCGAAGATCTGGTAGACCAGCTTGGTGGTGGTGGCTTTCGTGGGTCCCCTGTCCTTCTCCCTGGTAGAATGCCTGATGGTCTGCCGCCTCGCCTGGGCTCGCCTACGGGAGAGGTTCCAGCATCTCAGAGGACTGGGACAGAGGATGTGGGCCATGCTCTACCCTCCCCGGTCTCCAGTCTTCACTCTGGTCCCTGCCGCATCCTTACCTCTGTCCCAGCGTGACCCCAGCCAGCTTGATCAGGTCCCGCATGCAGGGTGTCAGGAAGATGGGCTGCTCATCACTGTCCCCGGCCTCGTCATAACTCTCCACCTGCTCCACCACAAACTGCGCGTGTCGCAGGAGGGAGTCCTCTGTGAAGCGGTTCAAGTTGAGGCCAGAAGGAGGAACCGTGGTCTTGAAAGAGAACAGGTTTCTCTCATGCTTAAGCCAAACTGGCCTAAATCCAACTGAAGAACAGTGTCTGCTGGTTCTGAAGGCAAGTTTCCAGTGGGAATCCCGGATGCTGAGGACCCTCGATCTCTTACCTCGATCTTGTTGATCAGGTCCTCATAGGTCGAGTCGGAATTGCTCTGCAGGAACTCCACCACAATCTTGCTGATGTAGATCTTCTCCTGCATCAGCCCAAATATGGGCGCATACTCGGGACTGGGATCCATCAGAATGTATTCGGCAAATGCTGGGGTGAACAGAGGAGGTGTGGAAAAGGGGCTGGAATCTGATGGCGCCTACAGTGGCCACAGGGCATGGAGGAGTCTACCAAACTCACCCAACAGTCTAAAAGTCATCCCGTACCCAAATGTCAGAAACATAGGGCACAACACATCATAGCTGGCTTGTTCTGAAGAAGCCTGTCTGAGCCAGCCAGAGAGCGAAGACTAGCTGAGTAGGCCTTCATTGAGCTCATCTCTGGTGTTTGGAATTCAGTCTGGGTTTGGGTTGCAAGAATAAGACCTGCTCTTTTTTTTTTTTCAGGGGAGGACAGAGTCTTGCTCCGTCACCCAGGCTGGAGGGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGTCTGCTGGGTTCACGTGATTCTCCTGCCATAGCCTCCCAAGTAGCTGGGATTACAGGTATGCACCACCATGCGTGGCTAATTTTTGTATTTTTGGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTAGGCTGGTCTCGAATTCCTGGCCTCAAATGATCCCCCCAACTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATATCCGGCCAAGACCTGCTCTTACAACTGGAGAGTCAGTTCCAGAGCCAGTCATAACTAACACAAGAGGCTACCCCAACTGAACCTGCTAAGGTTCCCAGTCACATGGCCTTCTGCAAGCCTGCTGAGAATTCCCACCAGAGCCCCGTCAGCCCCCAGGAAGGAGAACATGAAGGCCCCTTTCAGACCCCGGCCAGCCTATGATGGGCCACACACTTACAGGTGCTGAAGCCGATGAGGGCCTTTTCACCTCCATCAAAGCCAGTGATCCACCATTCATTTATGGGGCCAAGATTTTTGCCATTAACACCACCTAGAGCAGAAAAAGGAAATGGACTAAAGGCTCTGACTCACATCCCAAACCCAGGAGGCGCTCTAAGCGCCCACTCAGCAGACATCCCATCAGCCAGGTCGGGTGCTCCTCAGTCATCACAATGACTTGGCCTACAGCTGCTCCTGGCACAAAGTCTCACACCCTAACTTTAAGAGGCAGCAGCAACTCCAGCTGACTATTGCTTCATAAGTATGTTTTTTATTTATACATATATATAAGTATATATGTATACTATATATATATGCTATATATTTTTTTTTAATAGAGGCAGGCTCTTGCTATGTTGTCCAGGCTCGTCTCAAACTCCCGGGCTCAAGTGATCCTCTGGCCTCAGACCCCCAAAGTGCTAGGATTACAGATGTGAGCCACCCTGCCTGGCTGTTTTTAAAGTGTGCCCCAAACATAATCCCGGACTATTCCTTACCTTCAAGAGATGGGTCATCATCATAGATTGGTTTTGCTGAACCAGAAAAGAAGAGTTCGATATTCTTCTCGATGAGGCCGGTGTCGATGGGACACAGGTGACCGTGCTTACAGTACACACTAGACAGGAAACAAAGCACATGCTTACCAGCTAAGCCGTGAAGGCGGGTCTTCGTGCAGACTTCAGATCAGGCACGAGGCAATGAGAGAATGTACAAGTCTGACACTCTTTTTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTATCCCTCAGGCTGGAGCGCGATGGCATAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATT 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TAAGGTGGGAAGATCACTTGAGCCCAGTAGGTTGAGAATGCAGTGAGCTACAATCATGCCACTGCATTCCAGACTGGGTGACAGAACGAGACCCATCTCAACAACAACAACAACAACAACAACAACAAAACCAAGACTTTTAAAAATGTGCCTATTTGGCTGGGTGCAGTGCCTCATGCCTCTAATCCCGGCAGTTTGGGAGGCCAAGACAGGAGGACCACTTGAAGCCAGGAGTTTGAGACCAGGCAAGGCAACACAGCAGGACCCTGTCTCTACAAAAAAAAAAAAAAAAAGCAATATTCAACCTCATTAGAAATATGGTAAGTGAGAGAAATAAAATTCCCTTCCCATTCTCCAGATGGGTTAAGAAGCCAGATAGGTGGTGTGAGGAAAGAAGAACGCACACTGCTCAAATGGTAAGTTGGTAGAACCATTTTGGAGAGCAATCTTCTAGATCAAAGTTAAGAATACACACCCACAACCCAGCAACGCTACTTCTAAGCAGATACACTCGCGAGAAGCTTTGCTCAAGGATGCTGCCACATATTTACAATACTGAAGAGGTGCCTATCATTGAGGAGTAAGTTAGGATATTCATTTAACAAAATACTACAGAATATTTAAAATGAAATAACTAGATCTACCAGTATCAACACGTAACAGTTACACAAATAAAAACAAATGATTTTAGGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAGATCACTTAAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCGGGTATGGTGGCGGGTGCCTATAATCCCAGCCACTCGGGAGGCTGAGGTGGGAGAACTGATTGAACCCGGGAGGCGGAGGTTACGGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGAGAGACTGTCTCAAAAAAATTAAAAAAAAAAAAAAAAGATTTTAGAAGTTATAAAACATTGGACACACGTGTGTTAACCAAGAAAAATAAAATAAAACCAAAATAACAATGGTGAGGACATGCAGGCTCCTGTTAAGAGATGCCAGCGGGGATCAAAAGCAAAGCCCTGAAGCCAGTCTTTATCCAAAAGAAAGTCAGGTAATAGGTATCAAAATAGTCCTGGTCTTTGGGTCATAGGACTAGGAAGTTAGTTCCTCCTGAGTGAAGTAAACATATATTTTAAAAACTCACAGAAAGGGACGCCTCCTGAGGGCCTCAAATCTAAGCTGGACAAAGTGCCCACTTAGATGTGAATACCCCTTTAGCAGTCCAACAGGGGCCTTCAGACTGTGAGATGCAGGCACAGCAGAGCCACCCAGAAGCCAGGCTCTTCAATTAAGGACAGTGGCATTATCAGCAAAGCACCCAAGCATGCCTCTGTGGACATCTGTCCTATTGACGTTCAATGAAGTATGCAGGGTCCTCCCAGACCACTAACTAATTTCTGTCTCAGGGGTCACATTTGAGCAGCCAGAGTCTCAAGCCACAGAGAGAAAGATGGAGCAGTCCTCAGATCAGGCCAGAGGCTGGGCCACCTTAGGGGAGCGGGAGCACCCACAGGTGAGGTTACCTCACAGACGCCACATCGCCGGCGCTTAAAGGCGTTCTCCTTGTCTTCTCTGTCATCCTTTTCAATTTGCTCTGCGAAGAAAGTATCGAAGATCTGGTAGACCAGCTTGGTGGTGGTGGCTTTCGTGGGTCCCCTGTCCTTCTCCCTGGTAGAATGCCTGATGGTCTGCCGCCTCGCCTGGGCTCGCCTACGGGAGAGGTTCCAGCATCTCAGAGGACTGGGACAGAGGATGTGGGCCATGCTCTACCCTCCCCGGTCTCCAGTCTTCACTCTGGTCCCTGCCGCATCCTTACCTCTGTCCCAGCGTGACCCCAGCCAGCTTGATCAGGTCCCGCATGCAGGGTGTCAGGAAGATGGGCTGCTCATCACTGTCCCCGGCCTCGTCATAACTCTCCACCTGCTCCACCACAAACTGCACGTGTCGCAGGAGGGAGTCCTCTGTGAAGCGGTTCAAGTTGAGGCCAGAAGGAGGAACCGTGGTCTTGAAAGAGAACAGGTTTCTCTCATGCTTAAGCCAAACTGGCCTAAATCCAACTGAAGAACAGTGTCTGCTGGTTCTGAAGGCAAGTTTCCAGTGGGAATCCCGGATGCTGAGGACCCTCGATCTCTTACCTCGATCTTGTTGATCAGGTCCTCATAGGTCGAGTCGGAATTGCTCTGCAGGAACTCCACCACAATCTTGCTGATGTAGATCTTCTCCTGCATCAGCCCAAATATGGGCGCATACTCGGGACTGGGATCCATCAGAATGTATTCGGCAAATGCTGGGGTGAACAGAGGAGGTGTGGAAAAGGGGCTGGAATCTGATGGCGCCTACAGTGGCCACAGGGCATGGAGGAGTCTACCAAACTCACCCAACAGTCTAAAAGTCATCCCGTACCCAAATGTCAGAAACATAGGGCACAACACATCATAGCTGGCTTGTTCTGAAGAAGCCTGTCTGAGCCAGCCAGAGAGCGAAGACTAGCTGAGTAGGCCTTCATTGAGCTCATCTCTGGTGTTTGGAATTCAGTCTGGGTTTGGGTTGCAAGAATAAGACCTGCTCTTTTTTTTTTTTCAGGGGAGGACAGAGTCTTGCTCCGTCACCCAGGCTGGAGGGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGTCTGCTGGGTTCACGTGATTCTCCTGCCATAGCCTCCCAAGTAGCTGGGATTACAGGTATGCACCACCATGCGTGGCTAATTTTTGTATTTTTGGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTAGGCTGGTCTCGAATTCCTGGCCTCAAATGATCCCCCCAACTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATATCCGGCCAAGACCTGCTCTTACAACTGGAGAGTCAGTTCCAGAGCCAGTCATAACTAACACAAGAGGCTACCCCAACTGAACCTGCTAAGGTTCCCAGTCACATGGCCTTCTGCAAGCCTGCTGAGAATTCCCACCAGAGCCCCGTCAGCCCCCAGGAAGGAGAACATGAAGGCCCCTTTCAGACCCCGGCCAGCCTATGATGGGCCACACACTTACAGGTGCTGAAGCCGATGAGGGCCTTTTCACCTCCATCAAAGCCAGTGATCCACCATTCATTTATGGGGCCAAGATTTTTGCCATTAACACCACCTAGAGCAGAAAAAGGAAATGGACTAAAGGCTCTGACTCACATCCCAAACCCAGGAGGCGCTCTAAGCGCCCACTCAGCAGACATCCCATCAGCCAGGTCGGGTGCTCCTCAGTCATCACAATGACTTGGCCTACAGCTGCTCCTGGCACAAAGTCTCACACCCTAACTTTAAGAGGCAGCAGCAACTCCAGCTGACTATTGCTTCATAAGTATGTTTTTTATTTATACATATATATAAGTATATATGTATACTATATATATATGCTATATATTTTTTTTTAATAGAGGCAGGCTCTTGCTATGTTGTCCAGGCTCGTCTCAAACTCCCGGGCTCAAGTGATCCTCTGGCCTCAGACCCCCAAAGTGCTAGGATTACAGATGTGAGCCACCCTGCCTGGCTGTTTTTAAAGTGTGCCCCAAACATAATCCCGGACTATTCCTTACCTTCAAGAGATGGGTCATCATCATAGATTGGTTTTGCTGAACCAGAAAAGAAGAGTTCGATATTCTTCTCGATGAGGCCGGTGTCGATGGGACACAGGTGACCGTGCTTACAGTACACACTAGACAGGAAACAAAGCACATGCTTACCAGCTAAGCCGTGAAGGCGGGTCTTCGTGCAGACTTCAGATCAGGCACGAGGCAATGAGAGAATGTACAAGTCTGACACTCTTTTTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTATCCCTCAGGCTGGAGCGCGATGGCATAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATT 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Task1_train_26402 | This variant affects the gene DNMT1 (DNA methyltransferase 1) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal dominant cerebellar ataxia, deafness and narcolepsy | TAAGGTGGGAAGATCACTTGAGCCCAGTAGGTTGAGAATGCAGTGAGCTACAATCATGCCACTGCATTCCAGACTGGGTGACAGAACGAGACCCATCTCAACAACAACAACAACAACAACAACAACAAAACCAAGACTTTTAAAAATGTGCCTATTTGGCTGGGTGCAGTGCCTCATGCCTCTAATCCCGGCAGTTTGGGAGGCCAAGACAGGAGGACCACTTGAAGCCAGGAGTTTGAGACCAGGCAAGGCAACACAGCAGGACCCTGTCTCTACAAAAAAAAAAAAAAAAAGCAATATTCAACCTCATTAGAAATATGGTAAGTGAGAGAAATAAAATTCCCTTCCCATTCTCCAGATGGGTTAAGAAGCCAGATAGGTGGTGTGAGGAAAGAAGAACGCACACTGCTCAAATGGTAAGTTGGTAGAACCATTTTGGAGAGCAATCTTCTAGATCAAAGTTAAGAATACACACCCACAACCCAGCAACGCTACTTCTAAGCAGATACACTCGCGAGAAGCTTTGCTCAAGGATGCTGCCACATATTTACAATACTGAAGAGGTGCCTATCATTGAGGAGTAAGTTAGGATATTCATTTAACAAAATACTACAGAATATTTAAAATGAAATAACTAGATCTACCAGTATCAACACGTAACAGTTACACAAATAAAAACAAATGATTTTAGGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAGATCACTTAAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCGGGTATGGTGGCGGGTGCCTATAATCCCAGCCACTCGGGAGGCTGAGGTGGGAGAACTGATTGAACCCGGGAGGCGGAGGTTACGGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGAGAGACTGTCTCAAAAAAATTAAAAAAAAAAAAAAAAGATTTTAGAAGTTATAAAACATTGGACACACGTGTGTTAACCAAGAAAAATAAAATAAAACCAAAATAACAATGGTGAGGACATGCAGGCTCCTGTTAAGAGATGCCAGCGGGGATCAAAAGCAAAGCCCTGAAGCCAGTCTTTATCCAAAAGAAAGTCAGGTAATAGGTATCAAAATAGTCCTGGTCTTTGGGTCATAGGACTAGGAAGTTAGTTCCTCCTGAGTGAAGTAAACATATATTTTAAAAACTCACAGAAAGGGACGCCTCCTGAGGGCCTCAAATCTAAGCTGGACAAAGTGCCCACTTAGATGTGAATACCCCTTTAGCAGTCCAACAGGGGCCTTCAGACTGTGAGATGCAGGCACAGCAGAGCCACCCAGAAGCCAGGCTCTTCAATTAAGGACAGTGGCATTATCAGCAAAGCACCCAAGCATGCCTCTGTGGACATCTGTCCTATTGACGTTCAATGAAGTATGCAGGGTCCTCCCAGACCACTAACTAATTTCTGTCTCAGGGGTCACATTTGAGCAGCCAGAGTCTCAAGCCACAGAGAGAAAGATGGAGCAGTCCTCAGATCAGGCCAGAGGCTGGGCCACCTTAGGGGAGCGGGAGCACCCACAGGTGAGGTTACCTCACAGACGCCACATCGCCGGCGCTTAAAGGCGTTCTCCTTGTCTTCTCTGTCATCCTTTTCAATTTGCTCTGCGAAGAAAGTATCGAAGATCTGGTAGACCAGCTTGGTGGTGGTGGCTTTCGTGGGTCCCCTGTCCTTCTCCCTGGTAGAATGCCTGATGGTCTGCCGCCTCGCCTGGGCTCGCCTACGGGAGAGGTTCCAGCATCTCAGAGGACTGGGACAGAGGATGTGGGCCATGCTCTACCCTCCCCGGTCTCCAGTCTTCACTCTGGTCCCTGCCGCATCCTTACCTCTGTCCCAGCGTGACCCCAGCCAGCTTGATCAGGTCCCGCATGCAGGGTGTCAGGAAGATGGGCTGCTCATCACTGTCCCCGGCCTCGTCATAACTCTCCACCTGCTCCACCACAAACTGCGCGTGTCGCAGGAGGGAGTCCTCTGTGAAGCGGTTCAAGTTGAGGCCAGAAGGAGGAACCGTGGTCTTGAAAGAGAACAGGTTTCTCTCATGCTTAAGCCAAACTGGCCTAAATCCAACTGAAGAACAGTGTCTGCTGGTTCTGAAGGCAAGTTTCCAGTGGGAATCCCGGATGCTGAGGACCCTCGATCTCTTACCTCGATCTTGTTGATCAGGTCCTCATAGGTCGAGTCGGAATTGCTCTGCAGGAACTCCACCACAATCTTGCTGATGTAGATCTTCTCCTGCATCAGCCCAAATATGGGCGCATACTCGGGACTGGGATCCATCAGAATGTATTCGGCAAATGCTGGGGTGAACAGAGGAGGTGTGGAAAAGGGGCTGGAATCTGATGGCGCCTACAGTGGCCACAGGGCATGGAGGAGTCTACCAAACTCACCCAACAGTCTAAAAGTCATCCCGTACCCAAATGTCAGAAACATAGGGCACAACACATCATAGCTGGCTTGTTCTGAAGAAGCCTGTCTGAGCCAGCCAGAGAGCGAAGACTAGCTGAGTAGGCCTTCATTGAGCTCATCTCTGGTGTTTGGAATTCAGTCTGGGTTTGGGTTGCAAGAATAAGACCTGCTCTTTTTTTTTTTTCAGGGGAGGACAGAGTCTTGCTCCGTCACCCAGGCTGGAGGGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGTCTGCTGGGTTCACGTGATTCTCCTGCCATAGCCTCCCAAGTAGCTGGGATTACAGGTATGCACCACCATGCGTGGCTAATTTTTGTATTTTTGGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTAGGCTGGTCTCGAATTCCTGGCCTCAAATGATCCCCCCAACTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATATCCGGCCAAGACCTGCTCTTACAACTGGAGAGTCAGTTCCAGAGCCAGTCATAACTAACACAAGAGGCTACCCCAACTGAACCTGCTAAGGTTCCCAGTCACATGGCCTTCTGCAAGCCTGCTGAGAATTCCCACCAGAGCCCCGTCAGCCCCCAGGAAGGAGAACATGAAGGCCCCTTTCAGACCCCGGCCAGCCTATGATGGGCCACACACTTACAGGTGCTGAAGCCGATGAGGGCCTTTTCACCTCCATCAAAGCCAGTGATCCACCATTCATTTATGGGGCCAAGATTTTTGCCATTAACACCACCTAGAGCAGAAAAAGGAAATGGACTAAAGGCTCTGACTCACATCCCAAACCCAGGAGGCGCTCTAAGCGCCCACTCAGCAGACATCCCATCAGCCAGGTCGGGTGCTCCTCAGTCATCACAATGACTTGGCCTACAGCTGCTCCTGGCACAAAGTCTCACACCCTAACTTTAAGAGGCAGCAGCAACTCCAGCTGACTATTGCTTCATAAGTATGTTTTTTATTTATACATATATATAAGTATATATGTATACTATATATATATGCTATATATTTTTTTTTAATAGAGGCAGGCTCTTGCTATGTTGTCCAGGCTCGTCTCAAACTCCCGGGCTCAAGTGATCCTCTGGCCTCAGACCCCCAAAGTGCTAGGATTACAGATGTGAGCCACCCTGCCTGGCTGTTTTTAAAGTGTGCCCCAAACATAATCCCGGACTATTCCTTACCTTCAAGAGATGGGTCATCATCATAGATTGGTTTTGCTGAACCAGAAAAGAAGAGTTCGATATTCTTCTCGATGAGGCCGGTGTCGATGGGACACAGGTGACCGTGCTTACAGTACACACTAGACAGGAAACAAAGCACATGCTTACCAGCTAAGCCGTGAAGGCGGGTCTTCGTGCAGACTTCAGATCAGGCACGAGGCAATGAGAGAATGTACAAGTCTGACACTCTTTTTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTATCCCTCAGGCTGGAGCGCGATGGCATAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATT 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TAAGGTGGGAAGATCACTTGAGCCCAGTAGGTTGAGAATGCAGTGAGCTACAATCATGCCACTGCATTCCAGACTGGGTGACAGAACGAGACCCATCTCAACAACAACAACAACAACAACAACAACAAAACCAAGACTTTTAAAAATGTGCCTATTTGGCTGGGTGCAGTGCCTCATGCCTCTAATCCCGGCAGTTTGGGAGGCCAAGACAGGAGGACCACTTGAAGCCAGGAGTTTGAGACCAGGCAAGGCAACACAGCAGGACCCTGTCTCTACAAAAAAAAAAAAAAAAAGCAATATTCAACCTCATTAGAAATATGGTAAGTGAGAGAAATAAAATTCCCTTCCCATTCTCCAGATGGGTTAAGAAGCCAGATAGGTGGTGTGAGGAAAGAAGAACGCACACTGCTCAAATGGTAAGTTGGTAGAACCATTTTGGAGAGCAATCTTCTAGATCAAAGTTAAGAATACACACCCACAACCCAGCAACGCTACTTCTAAGCAGATACACTCGCGAGAAGCTTTGCTCAAGGATGCTGCCACATATTTACAATACTGAAGAGGTGCCTATCATTGAGGAGTAAGTTAGGATATTCATTTAACAAAATACTACAGAATATTTAAAATGAAATAACTAGATCTACCAGTATCAACACGTAACAGTTACACAAATAAAAACAAATGATTTTAGGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAGATCACTTAAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCGGGTATGGTGGCGGGTGCCTATAATCCCAGCCACTCGGGAGGCTGAGGTGGGAGAACTGATTGAACCCGGGAGGCGGAGGTTACGGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGAGAGACTGTCTCAAAAAAATTAAAAAAAAAAAAAAAAGATTTTAGAAGTTATAAAACATTGGACACACGTGTGTTAACCAAGAAAAATAAAATAAAACCAAAATAACAATGGTGAGGACATGCAGGCTCCTGTTAAGAGATGCCAGCGGGGATCAAAAGCAAAGCCCTGAAGCCAGTCTTTATCCAAAAGAAAGTCAGGTAATAGGTATCAAAATAGTCCTGGTCTTTGGGTCATAGGACTAGGAAGTTAGTTCCTCCTGAGTGAAGTAAACATATATTTTAAAAACTCACAGAAAGGGACGCCTCCTGAGGGCCTCAAATCTAAGCTGGACAAAGTGCCCACTTAGATGTGAATACCCCTTTAGCAGTCCAACAGGGGCCTTCAGACTGTGAGATGCAGGCACAGCAGAGCCACCCAGAAGCCAGGCTCTTCAATTAAGGACAGTGGCATTATCAGCAAAGCACCCAAGCATGCCTCTGTGGACATCTGTCCTATTGACGTTCAATGAAGTATGCAGGGTCCTCCCAGACCACTAACTAATTTCTGTCTCAGGGGTCACATTTGAGCAGCCAGAGTCTCAAGCCACAGAGAGAAAGATGGAGCAGTCCTCAGATCAGGCCAGAGGCTGGGCCACCTTAGGGGAGCGGGAGCACCCACAGGTGAGGTTACCTCACAGACGCCACATCGCCGGCGCTTAAAGGCGTTCTCCTTGTCTTCTCTGTCATCCTTTTCAATTTGCTCTGCGAAGAAAGTATCGAAGATCTGGTAGACCAGCTTGGTGGTGGTGGCTTTCGTGGGTCCCCTGTCCTTCTCCCTGGTAGAATGCCTGATGGTCTGCCGCCTCGCCTGGGCTCGCCTACGGGAGAGGTTCCAGCATCTCAGAGGACTGGGACAGAGGATGTGGGCCATGCTCTACCCTCCCCGGTCTCCAGTCTTCACTCTGGTCCCTGCCGCATCCTTACCTCTGTCCCAGCGTGACCCCAGCCAGCTTGATCAGGTCCCGCATGCAGGGTGTCAGGAAGATGGGCTGCTCATCACTGTCCCCGGCCTCGTCATAACTCTCCACCTGCTCCACCACAAACTGCACGTGTCGCAGGAGGGAGTCCTCTGTGAAGCGGTTCAAGTTGAGGCCAGAAGGAGGAACCGTGGTCTTGAAAGAGAACAGGTTTCTCTCATGCTTAAGCCAAACTGGCCTAAATCCAACTGAAGAACAGTGTCTGCTGGTTCTGAAGGCAAGTTTCCAGTGGGAATCCCGGATGCTGAGGACCCTCGATCTCTTACCTCGATCTTGTTGATCAGGTCCTCATAGGTCGAGTCGGAATTGCTCTGCAGGAACTCCACCACAATCTTGCTGATGTAGATCTTCTCCTGCATCAGCCCAAATATGGGCGCATACTCGGGACTGGGATCCATCAGAATGTATTCGGCAAATGCTGGGGTGAACAGAGGAGGTGTGGAAAAGGGGCTGGAATCTGATGGCGCCTACAGTGGCCACAGGGCATGGAGGAGTCTACCAAACTCACCCAACAGTCTAAAAGTCATCCCGTACCCAAATGTCAGAAACATAGGGCACAACACATCATAGCTGGCTTGTTCTGAAGAAGCCTGTCTGAGCCAGCCAGAGAGCGAAGACTAGCTGAGTAGGCCTTCATTGAGCTCATCTCTGGTGTTTGGAATTCAGTCTGGGTTTGGGTTGCAAGAATAAGACCTGCTCTTTTTTTTTTTTCAGGGGAGGACAGAGTCTTGCTCCGTCACCCAGGCTGGAGGGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGTCTGCTGGGTTCACGTGATTCTCCTGCCATAGCCTCCCAAGTAGCTGGGATTACAGGTATGCACCACCATGCGTGGCTAATTTTTGTATTTTTGGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTAGGCTGGTCTCGAATTCCTGGCCTCAAATGATCCCCCCAACTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATATCCGGCCAAGACCTGCTCTTACAACTGGAGAGTCAGTTCCAGAGCCAGTCATAACTAACACAAGAGGCTACCCCAACTGAACCTGCTAAGGTTCCCAGTCACATGGCCTTCTGCAAGCCTGCTGAGAATTCCCACCAGAGCCCCGTCAGCCCCCAGGAAGGAGAACATGAAGGCCCCTTTCAGACCCCGGCCAGCCTATGATGGGCCACACACTTACAGGTGCTGAAGCCGATGAGGGCCTTTTCACCTCCATCAAAGCCAGTGATCCACCATTCATTTATGGGGCCAAGATTTTTGCCATTAACACCACCTAGAGCAGAAAAAGGAAATGGACTAAAGGCTCTGACTCACATCCCAAACCCAGGAGGCGCTCTAAGCGCCCACTCAGCAGACATCCCATCAGCCAGGTCGGGTGCTCCTCAGTCATCACAATGACTTGGCCTACAGCTGCTCCTGGCACAAAGTCTCACACCCTAACTTTAAGAGGCAGCAGCAACTCCAGCTGACTATTGCTTCATAAGTATGTTTTTTATTTATACATATATATAAGTATATATGTATACTATATATATATGCTATATATTTTTTTTTAATAGAGGCAGGCTCTTGCTATGTTGTCCAGGCTCGTCTCAAACTCCCGGGCTCAAGTGATCCTCTGGCCTCAGACCCCCAAAGTGCTAGGATTACAGATGTGAGCCACCCTGCCTGGCTGTTTTTAAAGTGTGCCCCAAACATAATCCCGGACTATTCCTTACCTTCAAGAGATGGGTCATCATCATAGATTGGTTTTGCTGAACCAGAAAAGAAGAGTTCGATATTCTTCTCGATGAGGCCGGTGTCGATGGGACACAGGTGACCGTGCTTACAGTACACACTAGACAGGAAACAAAGCACATGCTTACCAGCTAAGCCGTGAAGGCGGGTCTTCGTGCAGACTTCAGATCAGGCACGAGGCAATGAGAGAATGTACAAGTCTGACACTCTTTTTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTATCCCTCAGGCTGGAGCGCGATGGCATAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATT 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Task1_train_26403 | This mutation occurs in DNMT1 (DNA methyltransferase 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hereditary sensory neuropathy-deafness-dementia syndrome | TAAGGTGGGAAGATCACTTGAGCCCAGTAGGTTGAGAATGCAGTGAGCTACAATCATGCCACTGCATTCCAGACTGGGTGACAGAACGAGACCCATCTCAACAACAACAACAACAACAACAACAACAAAACCAAGACTTTTAAAAATGTGCCTATTTGGCTGGGTGCAGTGCCTCATGCCTCTAATCCCGGCAGTTTGGGAGGCCAAGACAGGAGGACCACTTGAAGCCAGGAGTTTGAGACCAGGCAAGGCAACACAGCAGGACCCTGTCTCTACAAAAAAAAAAAAAAAAAGCAATATTCAACCTCATTAGAAATATGGTAAGTGAGAGAAATAAAATTCCCTTCCCATTCTCCAGATGGGTTAAGAAGCCAGATAGGTGGTGTGAGGAAAGAAGAACGCACACTGCTCAAATGGTAAGTTGGTAGAACCATTTTGGAGAGCAATCTTCTAGATCAAAGTTAAGAATACACACCCACAACCCAGCAACGCTACTTCTAAGCAGATACACTCGCGAGAAGCTTTGCTCAAGGATGCTGCCACATATTTACAATACTGAAGAGGTGCCTATCATTGAGGAGTAAGTTAGGATATTCATTTAACAAAATACTACAGAATATTTAAAATGAAATAACTAGATCTACCAGTATCAACACGTAACAGTTACACAAATAAAAACAAATGATTTTAGGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAGATCACTTAAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCGGGTATGGTGGCGGGTGCCTATAATCCCAGCCACTCGGGAGGCTGAGGTGGGAGAACTGATTGAACCCGGGAGGCGGAGGTTACGGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGAGAGACTGTCTCAAAAAAATTAAAAAAAAAAAAAAAAGATTTTAGAAGTTATAAAACATTGGACACACGTGTGTTAACCAAGAAAAATAAAATAAAACCAAAATAACAATGGTGAGGACATGCAGGCTCCTGTTAAGAGATGCCAGCGGGGATCAAAAGCAAAGCCCTGAAGCCAGTCTTTATCCAAAAGAAAGTCAGGTAATAGGTATCAAAATAGTCCTGGTCTTTGGGTCATAGGACTAGGAAGTTAGTTCCTCCTGAGTGAAGTAAACATATATTTTAAAAACTCACAGAAAGGGACGCCTCCTGAGGGCCTCAAATCTAAGCTGGACAAAGTGCCCACTTAGATGTGAATACCCCTTTAGCAGTCCAACAGGGGCCTTCAGACTGTGAGATGCAGGCACAGCAGAGCCACCCAGAAGCCAGGCTCTTCAATTAAGGACAGTGGCATTATCAGCAAAGCACCCAAGCATGCCTCTGTGGACATCTGTCCTATTGACGTTCAATGAAGTATGCAGGGTCCTCCCAGACCACTAACTAATTTCTGTCTCAGGGGTCACATTTGAGCAGCCAGAGTCTCAAGCCACAGAGAGAAAGATGGAGCAGTCCTCAGATCAGGCCAGAGGCTGGGCCACCTTAGGGGAGCGGGAGCACCCACAGGTGAGGTTACCTCACAGACGCCACATCGCCGGCGCTTAAAGGCGTTCTCCTTGTCTTCTCTGTCATCCTTTTCAATTTGCTCTGCGAAGAAAGTATCGAAGATCTGGTAGACCAGCTTGGTGGTGGTGGCTTTCGTGGGTCCCCTGTCCTTCTCCCTGGTAGAATGCCTGATGGTCTGCCGCCTCGCCTGGGCTCGCCTACGGGAGAGGTTCCAGCATCTCAGAGGACTGGGACAGAGGATGTGGGCCATGCTCTACCCTCCCCGGTCTCCAGTCTTCACTCTGGTCCCTGCCGCATCCTTACCTCTGTCCCAGCGTGACCCCAGCCAGCTTGATCAGGTCCCGCATGCAGGGTGTCAGGAAGATGGGCTGCTCATCACTGTCCCCGGCCTCGTCATAACTCTCCACCTGCTCCACCACAAACTGCGCGTGTCGCAGGAGGGAGTCCTCTGTGAAGCGGTTCAAGTTGAGGCCAGAAGGAGGAACCGTGGTCTTGAAAGAGAACAGGTTTCTCTCATGCTTAAGCCAAACTGGCCTAAATCCAACTGAAGAACAGTGTCTGCTGGTTCTGAAGGCAAGTTTCCAGTGGGAATCCCGGATGCTGAGGACCCTCGATCTCTTACCTCGATCTTGTTGATCAGGTCCTCATAGGTCGAGTCGGAATTGCTCTGCAGGAACTCCACCACAATCTTGCTGATGTAGATCTTCTCCTGCATCAGCCCAAATATGGGCGCATACTCGGGACTGGGATCCATCAGAATGTATTCGGCAAATGCTGGGGTGAACAGAGGAGGTGTGGAAAAGGGGCTGGAATCTGATGGCGCCTACAGTGGCCACAGGGCATGGAGGAGTCTACCAAACTCACCCAACAGTCTAAAAGTCATCCCGTACCCAAATGTCAGAAACATAGGGCACAACACATCATAGCTGGCTTGTTCTGAAGAAGCCTGTCTGAGCCAGCCAGAGAGCGAAGACTAGCTGAGTAGGCCTTCATTGAGCTCATCTCTGGTGTTTGGAATTCAGTCTGGGTTTGGGTTGCAAGAATAAGACCTGCTCTTTTTTTTTTTTCAGGGGAGGACAGAGTCTTGCTCCGTCACCCAGGCTGGAGGGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGTCTGCTGGGTTCACGTGATTCTCCTGCCATAGCCTCCCAAGTAGCTGGGATTACAGGTATGCACCACCATGCGTGGCTAATTTTTGTATTTTTGGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTAGGCTGGTCTCGAATTCCTGGCCTCAAATGATCCCCCCAACTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATATCCGGCCAAGACCTGCTCTTACAACTGGAGAGTCAGTTCCAGAGCCAGTCATAACTAACACAAGAGGCTACCCCAACTGAACCTGCTAAGGTTCCCAGTCACATGGCCTTCTGCAAGCCTGCTGAGAATTCCCACCAGAGCCCCGTCAGCCCCCAGGAAGGAGAACATGAAGGCCCCTTTCAGACCCCGGCCAGCCTATGATGGGCCACACACTTACAGGTGCTGAAGCCGATGAGGGCCTTTTCACCTCCATCAAAGCCAGTGATCCACCATTCATTTATGGGGCCAAGATTTTTGCCATTAACACCACCTAGAGCAGAAAAAGGAAATGGACTAAAGGCTCTGACTCACATCCCAAACCCAGGAGGCGCTCTAAGCGCCCACTCAGCAGACATCCCATCAGCCAGGTCGGGTGCTCCTCAGTCATCACAATGACTTGGCCTACAGCTGCTCCTGGCACAAAGTCTCACACCCTAACTTTAAGAGGCAGCAGCAACTCCAGCTGACTATTGCTTCATAAGTATGTTTTTTATTTATACATATATATAAGTATATATGTATACTATATATATATGCTATATATTTTTTTTTAATAGAGGCAGGCTCTTGCTATGTTGTCCAGGCTCGTCTCAAACTCCCGGGCTCAAGTGATCCTCTGGCCTCAGACCCCCAAAGTGCTAGGATTACAGATGTGAGCCACCCTGCCTGGCTGTTTTTAAAGTGTGCCCCAAACATAATCCCGGACTATTCCTTACCTTCAAGAGATGGGTCATCATCATAGATTGGTTTTGCTGAACCAGAAAAGAAGAGTTCGATATTCTTCTCGATGAGGCCGGTGTCGATGGGACACAGGTGACCGTGCTTACAGTACACACTAGACAGGAAACAAAGCACATGCTTACCAGCTAAGCCGTGAAGGCGGGTCTTCGTGCAGACTTCAGATCAGGCACGAGGCAATGAGAGAATGTACAAGTCTGACACTCTTTTTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTATCCCTCAGGCTGGAGCGCGATGGCATAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATT 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TAAGGTGGGAAGATCACTTGAGCCCAGTAGGTTGAGAATGCAGTGAGCTACAATCATGCCACTGCATTCCAGACTGGGTGACAGAACGAGACCCATCTCAACAACAACAACAACAACAACAACAACAAAACCAAGACTTTTAAAAATGTGCCTATTTGGCTGGGTGCAGTGCCTCATGCCTCTAATCCCGGCAGTTTGGGAGGCCAAGACAGGAGGACCACTTGAAGCCAGGAGTTTGAGACCAGGCAAGGCAACACAGCAGGACCCTGTCTCTACAAAAAAAAAAAAAAAAAGCAATATTCAACCTCATTAGAAATATGGTAAGTGAGAGAAATAAAATTCCCTTCCCATTCTCCAGATGGGTTAAGAAGCCAGATAGGTGGTGTGAGGAAAGAAGAACGCACACTGCTCAAATGGTAAGTTGGTAGAACCATTTTGGAGAGCAATCTTCTAGATCAAAGTTAAGAATACACACCCACAACCCAGCAACGCTACTTCTAAGCAGATACACTCGCGAGAAGCTTTGCTCAAGGATGCTGCCACATATTTACAATACTGAAGAGGTGCCTATCATTGAGGAGTAAGTTAGGATATTCATTTAACAAAATACTACAGAATATTTAAAATGAAATAACTAGATCTACCAGTATCAACACGTAACAGTTACACAAATAAAAACAAATGATTTTAGGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAGATCACTTAAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCGGGTATGGTGGCGGGTGCCTATAATCCCAGCCACTCGGGAGGCTGAGGTGGGAGAACTGATTGAACCCGGGAGGCGGAGGTTACGGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGAGAGACTGTCTCAAAAAAATTAAAAAAAAAAAAAAAAGATTTTAGAAGTTATAAAACATTGGACACACGTGTGTTAACCAAGAAAAATAAAATAAAACCAAAATAACAATGGTGAGGACATGCAGGCTCCTGTTAAGAGATGCCAGCGGGGATCAAAAGCAAAGCCCTGAAGCCAGTCTTTATCCAAAAGAAAGTCAGGTAATAGGTATCAAAATAGTCCTGGTCTTTGGGTCATAGGACTAGGAAGTTAGTTCCTCCTGAGTGAAGTAAACATATATTTTAAAAACTCACAGAAAGGGACGCCTCCTGAGGGCCTCAAATCTAAGCTGGACAAAGTGCCCACTTAGATGTGAATACCCCTTTAGCAGTCCAACAGGGGCCTTCAGACTGTGAGATGCAGGCACAGCAGAGCCACCCAGAAGCCAGGCTCTTCAATTAAGGACAGTGGCATTATCAGCAAAGCACCCAAGCATGCCTCTGTGGACATCTGTCCTATTGACGTTCAATGAAGTATGCAGGGTCCTCCCAGACCACTAACTAATTTCTGTCTCAGGGGTCACATTTGAGCAGCCAGAGTCTCAAGCCACAGAGAGAAAGATGGAGCAGTCCTCAGATCAGGCCAGAGGCTGGGCCACCTTAGGGGAGCGGGAGCACCCACAGGTGAGGTTACCTCACAGACGCCACATCGCCGGCGCTTAAAGGCGTTCTCCTTGTCTTCTCTGTCATCCTTTTCAATTTGCTCTGCGAAGAAAGTATCGAAGATCTGGTAGACCAGCTTGGTGGTGGTGGCTTTCGTGGGTCCCCTGTCCTTCTCCCTGGTAGAATGCCTGATGGTCTGCCGCCTCGCCTGGGCTCGCCTACGGGAGAGGTTCCAGCATCTCAGAGGACTGGGACAGAGGATGTGGGCCATGCTCTACCCTCCCCGGTCTCCAGTCTTCACTCTGGTCCCTGCCGCATCCTTACCTCTGTCCCAGCGTGACCCCAGCCAGCTTGATCAGGTCCCGCATGCAGGGTGTCAGGAAGATGGGCTGCTCATCACTGTCCCCGGCCTCGTCATAACTCTCCACCTGCTCCACCACAAACTGCACGTGTCGCAGGAGGGAGTCCTCTGTGAAGCGGTTCAAGTTGAGGCCAGAAGGAGGAACCGTGGTCTTGAAAGAGAACAGGTTTCTCTCATGCTTAAGCCAAACTGGCCTAAATCCAACTGAAGAACAGTGTCTGCTGGTTCTGAAGGCAAGTTTCCAGTGGGAATCCCGGATGCTGAGGACCCTCGATCTCTTACCTCGATCTTGTTGATCAGGTCCTCATAGGTCGAGTCGGAATTGCTCTGCAGGAACTCCACCACAATCTTGCTGATGTAGATCTTCTCCTGCATCAGCCCAAATATGGGCGCATACTCGGGACTGGGATCCATCAGAATGTATTCGGCAAATGCTGGGGTGAACAGAGGAGGTGTGGAAAAGGGGCTGGAATCTGATGGCGCCTACAGTGGCCACAGGGCATGGAGGAGTCTACCAAACTCACCCAACAGTCTAAAAGTCATCCCGTACCCAAATGTCAGAAACATAGGGCACAACACATCATAGCTGGCTTGTTCTGAAGAAGCCTGTCTGAGCCAGCCAGAGAGCGAAGACTAGCTGAGTAGGCCTTCATTGAGCTCATCTCTGGTGTTTGGAATTCAGTCTGGGTTTGGGTTGCAAGAATAAGACCTGCTCTTTTTTTTTTTTCAGGGGAGGACAGAGTCTTGCTCCGTCACCCAGGCTGGAGGGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGTCTGCTGGGTTCACGTGATTCTCCTGCCATAGCCTCCCAAGTAGCTGGGATTACAGGTATGCACCACCATGCGTGGCTAATTTTTGTATTTTTGGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTAGGCTGGTCTCGAATTCCTGGCCTCAAATGATCCCCCCAACTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATATCCGGCCAAGACCTGCTCTTACAACTGGAGAGTCAGTTCCAGAGCCAGTCATAACTAACACAAGAGGCTACCCCAACTGAACCTGCTAAGGTTCCCAGTCACATGGCCTTCTGCAAGCCTGCTGAGAATTCCCACCAGAGCCCCGTCAGCCCCCAGGAAGGAGAACATGAAGGCCCCTTTCAGACCCCGGCCAGCCTATGATGGGCCACACACTTACAGGTGCTGAAGCCGATGAGGGCCTTTTCACCTCCATCAAAGCCAGTGATCCACCATTCATTTATGGGGCCAAGATTTTTGCCATTAACACCACCTAGAGCAGAAAAAGGAAATGGACTAAAGGCTCTGACTCACATCCCAAACCCAGGAGGCGCTCTAAGCGCCCACTCAGCAGACATCCCATCAGCCAGGTCGGGTGCTCCTCAGTCATCACAATGACTTGGCCTACAGCTGCTCCTGGCACAAAGTCTCACACCCTAACTTTAAGAGGCAGCAGCAACTCCAGCTGACTATTGCTTCATAAGTATGTTTTTTATTTATACATATATATAAGTATATATGTATACTATATATATATGCTATATATTTTTTTTTAATAGAGGCAGGCTCTTGCTATGTTGTCCAGGCTCGTCTCAAACTCCCGGGCTCAAGTGATCCTCTGGCCTCAGACCCCCAAAGTGCTAGGATTACAGATGTGAGCCACCCTGCCTGGCTGTTTTTAAAGTGTGCCCCAAACATAATCCCGGACTATTCCTTACCTTCAAGAGATGGGTCATCATCATAGATTGGTTTTGCTGAACCAGAAAAGAAGAGTTCGATATTCTTCTCGATGAGGCCGGTGTCGATGGGACACAGGTGACCGTGCTTACAGTACACACTAGACAGGAAACAAAGCACATGCTTACCAGCTAAGCCGTGAAGGCGGGTCTTCGTGCAGACTTCAGATCAGGCACGAGGCAATGAGAGAATGTACAAGTCTGACACTCTTTTTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTATCCCTCAGGCTGGAGCGCGATGGCATAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATT 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Task1_train_26404 | A variant affecting Chromosome 19, within the gene DNMT1 (DNA methyltransferase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | TTAGAAATATGGTAAGTGAGAGAAATAAAATTCCCTTCCCATTCTCCAGATGGGTTAAGAAGCCAGATAGGTGGTGTGAGGAAAGAAGAACGCACACTGCTCAAATGGTAAGTTGGTAGAACCATTTTGGAGAGCAATCTTCTAGATCAAAGTTAAGAATACACACCCACAACCCAGCAACGCTACTTCTAAGCAGATACACTCGCGAGAAGCTTTGCTCAAGGATGCTGCCACATATTTACAATACTGAAGAGGTGCCTATCATTGAGGAGTAAGTTAGGATATTCATTTAACAAAATACTACAGAATATTTAAAATGAAATAACTAGATCTACCAGTATCAACACGTAACAGTTACACAAATAAAAACAAATGATTTTAGGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAGATCACTTAAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCGGGTATGGTGGCGGGTGCCTATAATCCCAGCCACTCGGGAGGCTGAGGTGGGAGAACTGATTGAACCCGGGAGGCGGAGGTTACGGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGAGAGACTGTCTCAAAAAAATTAAAAAAAAAAAAAAAAGATTTTAGAAGTTATAAAACATTGGACACACGTGTGTTAACCAAGAAAAATAAAATAAAACCAAAATAACAATGGTGAGGACATGCAGGCTCCTGTTAAGAGATGCCAGCGGGGATCAAAAGCAAAGCCCTGAAGCCAGTCTTTATCCAAAAGAAAGTCAGGTAATAGGTATCAAAATAGTCCTGGTCTTTGGGTCATAGGACTAGGAAGTTAGTTCCTCCTGAGTGAAGTAAACATATATTTTAAAAACTCACAGAAAGGGACGCCTCCTGAGGGCCTCAAATCTAAGCTGGACAAAGTGCCCACTTAGATGTGAATACCCCTTTAGCAGTCCAACAGGGGCCTTCAGACTGTGAGATGCAGGCACAGCAGAGCCACCCAGAAGCCAGGCTCTTCAATTAAGGACAGTGGCATTATCAGCAAAGCACCCAAGCATGCCTCTGTGGACATCTGTCCTATTGACGTTCAATGAAGTATGCAGGGTCCTCCCAGACCACTAACTAATTTCTGTCTCAGGGGTCACATTTGAGCAGCCAGAGTCTCAAGCCACAGAGAGAAAGATGGAGCAGTCCTCAGATCAGGCCAGAGGCTGGGCCACCTTAGGGGAGCGGGAGCACCCACAGGTGAGGTTACCTCACAGACGCCACATCGCCGGCGCTTAAAGGCGTTCTCCTTGTCTTCTCTGTCATCCTTTTCAATTTGCTCTGCGAAGAAAGTATCGAAGATCTGGTAGACCAGCTTGGTGGTGGTGGCTTTCGTGGGTCCCCTGTCCTTCTCCCTGGTAGAATGCCTGATGGTCTGCCGCCTCGCCTGGGCTCGCCTACGGGAGAGGTTCCAGCATCTCAGAGGACTGGGACAGAGGATGTGGGCCATGCTCTACCCTCCCCGGTCTCCAGTCTTCACTCTGGTCCCTGCCGCATCCTTACCTCTGTCCCAGCGTGACCCCAGCCAGCTTGATCAGGTCCCGCATGCAGGGTGTCAGGAAGATGGGCTGCTCATCACTGTCCCCGGCCTCGTCATAACTCTCCACCTGCTCCACCACAAACTGCGCGTGTCGCAGGAGGGAGTCCTCTGTGAAGCGGTTCAAGTTGAGGCCAGAAGGAGGAACCGTGGTCTTGAAAGAGAACAGGTTTCTCTCATGCTTAAGCCAAACTGGCCTAAATCCAACTGAAGAACAGTGTCTGCTGGTTCTGAAGGCAAGTTTCCAGTGGGAATCCCGGATGCTGAGGACCCTCGATCTCTTACCTCGATCTTGTTGATCAGGTCCTCATAGGTCGAGTCGGAATTGCTCTGCAGGAACTCCACCACAATCTTGCTGATGTAGATCTTCTCCTGCATCAGCCCAAATATGGGCGCATACTCGGGACTGGGATCCATCAGAATGTATTCGGCAAATGCTGGGGTGAACAGAGGAGGTGTGGAAAAGGGGCTGGAATCTGATGGCGCCTACAGTGGCCACAGGGCATGGAGGAGTCTACCAAACTCACCCAACAGTCTAAAAGTCATCCCGTACCCAAATGTCAGAAACATAGGGCACAACACATCATAGCTGGCTTGTTCTGAAGAAGCCTGTCTGAGCCAGCCAGAGAGCGAAGACTAGCTGAGTAGGCCTTCATTGAGCTCATCTCTGGTGTTTGGAATTCAGTCTGGGTTTGGGTTGCAAGAATAAGACCTGCTCTTTTTTTTTTTTCAGGGGAGGACAGAGTCTTGCTCCGTCACCCAGGCTGGAGGGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGTCTGCTGGGTTCACGTGATTCTCCTGCCATAGCCTCCCAAGTAGCTGGGATTACAGGTATGCACCACCATGCGTGGCTAATTTTTGTATTTTTGGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTAGGCTGGTCTCGAATTCCTGGCCTCAAATGATCCCCCCAACTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATATCCGGCCAAGACCTGCTCTTACAACTGGAGAGTCAGTTCCAGAGCCAGTCATAACTAACACAAGAGGCTACCCCAACTGAACCTGCTAAGGTTCCCAGTCACATGGCCTTCTGCAAGCCTGCTGAGAATTCCCACCAGAGCCCCGTCAGCCCCCAGGAAGGAGAACATGAAGGCCCCTTTCAGACCCCGGCCAGCCTATGATGGGCCACACACTTACAGGTGCTGAAGCCGATGAGGGCCTTTTCACCTCCATCAAAGCCAGTGATCCACCATTCATTTATGGGGCCAAGATTTTTGCCATTAACACCACCTAGAGCAGAAAAAGGAAATGGACTAAAGGCTCTGACTCACATCCCAAACCCAGGAGGCGCTCTAAGCGCCCACTCAGCAGACATCCCATCAGCCAGGTCGGGTGCTCCTCAGTCATCACAATGACTTGGCCTACAGCTGCTCCTGGCACAAAGTCTCACACCCTAACTTTAAGAGGCAGCAGCAACTCCAGCTGACTATTGCTTCATAAGTATGTTTTTTATTTATACATATATATAAGTATATATGTATACTATATATATATGCTATATATTTTTTTTTAATAGAGGCAGGCTCTTGCTATGTTGTCCAGGCTCGTCTCAAACTCCCGGGCTCAAGTGATCCTCTGGCCTCAGACCCCCAAAGTGCTAGGATTACAGATGTGAGCCACCCTGCCTGGCTGTTTTTAAAGTGTGCCCCAAACATAATCCCGGACTATTCCTTACCTTCAAGAGATGGGTCATCATCATAGATTGGTTTTGCTGAACCAGAAAAGAAGAGTTCGATATTCTTCTCGATGAGGCCGGTGTCGATGGGACACAGGTGACCGTGCTTACAGTACACACTAGACAGGAAACAAAGCACATGCTTACCAGCTAAGCCGTGAAGGCGGGTCTTCGTGCAGACTTCAGATCAGGCACGAGGCAATGAGAGAATGTACAAGTCTGACACTCTTTTTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTATCCCTCAGGCTGGAGCGCGATGGCATAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCCTGAACCACCATGCCCGGCTAATTGTTGTATTTTTAGTAGGGACGGGGTTTCACTATGTGTAGCAGGCTGGTCTCAAACTCTTTATCTCCAGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTGAACCACCATGCCTGGCCCCGACACTCATTTTTTGGTTGCGGGAACACTGGATTAAGACAGCGTTCTATCACCCAGAGTTTCTACCTTATTCTCCCACCTAAGCATCAAGTGTATGTGTGTCTGCAACAGCAACACCAAAAGATCAGTCAGACTTACAGTGCGGGAA 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TTAGAAATATGGTAAGTGAGAGAAATAAAATTCCCTTCCCATTCTCCAGATGGGTTAAGAAGCCAGATAGGTGGTGTGAGGAAAGAAGAACGCACACTGCTCAAATGGTAAGTTGGTAGAACCATTTTGGAGAGCAATCTTCTAGATCAAAGTTAAGAATACACACCCACAACCCAGCAACGCTACTTCTAAGCAGATACACTCGCGAGAAGCTTTGCTCAAGGATGCTGCCACATATTTACAATACTGAAGAGGTGCCTATCATTGAGGAGTAAGTTAGGATATTCATTTAACAAAATACTACAGAATATTTAAAATGAAATAACTAGATCTACCAGTATCAACACGTAACAGTTACACAAATAAAAACAAATGATTTTAGGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAGATCACTTAAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCGGGTATGGTGGCGGGTGCCTATAATCCCAGCCACTCGGGAGGCTGAGGTGGGAGAACTGATTGAACCCGGGAGGCGGAGGTTACGGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGAGAGACTGTCTCAAAAAAATTAAAAAAAAAAAAAAAAGATTTTAGAAGTTATAAAACATTGGACACACGTGTGTTAACCAAGAAAAATAAAATAAAACCAAAATAACAATGGTGAGGACATGCAGGCTCCTGTTAAGAGATGCCAGCGGGGATCAAAAGCAAAGCCCTGAAGCCAGTCTTTATCCAAAAGAAAGTCAGGTAATAGGTATCAAAATAGTCCTGGTCTTTGGGTCATAGGACTAGGAAGTTAGTTCCTCCTGAGTGAAGTAAACATATATTTTAAAAACTCACAGAAAGGGACGCCTCCTGAGGGCCTCAAATCTAAGCTGGACAAAGTGCCCACTTAGATGTGAATACCCCTTTAGCAGTCCAACAGGGGCCTTCAGACTGTGAGATGCAGGCACAGCAGAGCCACCCAGAAGCCAGGCTCTTCAATTAAGGACAGTGGCATTATCAGCAAAGCACCCAAGCATGCCTCTGTGGACATCTGTCCTATTGACGTTCAATGAAGTATGCAGGGTCCTCCCAGACCACTAACTAATTTCTGTCTCAGGGGTCACATTTGAGCAGCCAGAGTCTCAAGCCACAGAGAGAAAGATGGAGCAGTCCTCAGATCAGGCCAGAGGCTGGGCCACCTTAGGGGAGCGGGAGCACCCACAGGTGAGGTTACCTCACAGACGCCACATCGCCGGCGCTTAAAGGCGTTCTCCTTGTCTTCTCTGTCATCCTTTTCAATTTGCTCTGCGAAGAAAGTATCGAAGATCTGGTAGACCAGCTTGGTGGTGGTGGCTTTCGTGGGTCCCCTGTCCTTCTCCCTGGTAGAATGCCTGATGGTCTGCCGCCTCGCCTGGGCTCGCCTACGGGAGAGGTTCCAGCATCTCAGAGGACTGGGACAGAGGATGTGGGCCATGCTCTACCCTCCCCGGTCTCCAGTCTTCACTCTGGTCCCTGCCGCATCCTTACCTCTGTCCCAGCGTGACCCCAGCCAGCTTGATCAGGTCCCGCATGCAGGGTGTCAGGAAGATGGGCTGCTCATCACTGTCCCCGGCCTCGTCATAACTCTCCACCTGCTCCACCACAAACTGCGCGTGTCGCAGGAGGGAGTCCTCTGTGAAGCGGTTCAAGTTGAGGCCAGAAGGAGGAACCGTGGTCTTGAAAGAGAACAGGTTTCTCTCATGCTTAAGCCAAACTGGCCTAAATCCAACTGAAGAACAGTGTCTGCTGGTTCTGAAGGCAAGTTTCCAGTGGGAATCCCGGATGCTGAGGACCCTCGATCTCTTACCTCGATCTTGTTGATCAGGTCCTCATAGGTCGAGTCGGAATTGCTCTGCAGGAACTCCACCACAATCTTGCTGATGTAGATCTTCTCCTGCATCAGCCCAAATATGGGCGCATGCTCGGGACTGGGATCCATCAGAATGTATTCGGCAAATGCTGGGGTGAACAGAGGAGGTGTGGAAAAGGGGCTGGAATCTGATGGCGCCTACAGTGGCCACAGGGCATGGAGGAGTCTACCAAACTCACCCAACAGTCTAAAAGTCATCCCGTACCCAAATGTCAGAAACATAGGGCACAACACATCATAGCTGGCTTGTTCTGAAGAAGCCTGTCTGAGCCAGCCAGAGAGCGAAGACTAGCTGAGTAGGCCTTCATTGAGCTCATCTCTGGTGTTTGGAATTCAGTCTGGGTTTGGGTTGCAAGAATAAGACCTGCTCTTTTTTTTTTTTCAGGGGAGGACAGAGTCTTGCTCCGTCACCCAGGCTGGAGGGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGTCTGCTGGGTTCACGTGATTCTCCTGCCATAGCCTCCCAAGTAGCTGGGATTACAGGTATGCACCACCATGCGTGGCTAATTTTTGTATTTTTGGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTAGGCTGGTCTCGAATTCCTGGCCTCAAATGATCCCCCCAACTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATATCCGGCCAAGACCTGCTCTTACAACTGGAGAGTCAGTTCCAGAGCCAGTCATAACTAACACAAGAGGCTACCCCAACTGAACCTGCTAAGGTTCCCAGTCACATGGCCTTCTGCAAGCCTGCTGAGAATTCCCACCAGAGCCCCGTCAGCCCCCAGGAAGGAGAACATGAAGGCCCCTTTCAGACCCCGGCCAGCCTATGATGGGCCACACACTTACAGGTGCTGAAGCCGATGAGGGCCTTTTCACCTCCATCAAAGCCAGTGATCCACCATTCATTTATGGGGCCAAGATTTTTGCCATTAACACCACCTAGAGCAGAAAAAGGAAATGGACTAAAGGCTCTGACTCACATCCCAAACCCAGGAGGCGCTCTAAGCGCCCACTCAGCAGACATCCCATCAGCCAGGTCGGGTGCTCCTCAGTCATCACAATGACTTGGCCTACAGCTGCTCCTGGCACAAAGTCTCACACCCTAACTTTAAGAGGCAGCAGCAACTCCAGCTGACTATTGCTTCATAAGTATGTTTTTTATTTATACATATATATAAGTATATATGTATACTATATATATATGCTATATATTTTTTTTTAATAGAGGCAGGCTCTTGCTATGTTGTCCAGGCTCGTCTCAAACTCCCGGGCTCAAGTGATCCTCTGGCCTCAGACCCCCAAAGTGCTAGGATTACAGATGTGAGCCACCCTGCCTGGCTGTTTTTAAAGTGTGCCCCAAACATAATCCCGGACTATTCCTTACCTTCAAGAGATGGGTCATCATCATAGATTGGTTTTGCTGAACCAGAAAAGAAGAGTTCGATATTCTTCTCGATGAGGCCGGTGTCGATGGGACACAGGTGACCGTGCTTACAGTACACACTAGACAGGAAACAAAGCACATGCTTACCAGCTAAGCCGTGAAGGCGGGTCTTCGTGCAGACTTCAGATCAGGCACGAGGCAATGAGAGAATGTACAAGTCTGACACTCTTTTTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTATCCCTCAGGCTGGAGCGCGATGGCATAATCTTGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCCTGAACCACCATGCCCGGCTAATTGTTGTATTTTTAGTAGGGACGGGGTTTCACTATGTGTAGCAGGCTGGTCTCAAACTCTTTATCTCCAGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTGAACCACCATGCCTGGCCCCGACACTCATTTTTTGGTTGCGGGAACACTGGATTAAGACAGCGTTCTATCACCCAGAGTTTCTACCTTATTCTCCCACCTAAGCATCAAGTGTATGTGTGTCTGCAACAGCAACACCAAAAGATCAGTCAGACTTACAGTGCGGGAA 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Task1_train_26405 | Given this variant in gene S1PR2 (sphingosine-1-phosphate receptor 2) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 68 | GAAAGGAGGGTGTCTGTGCAAATATCACACCCAGAATTTTCTCAAGTTGCGCCTTGCATCAAGAGTCCCAAAGTCCTCCCCAGCCACCCAAACTCGTTTTTCTCACTTTTGGTGATTATTCTGTGCCCCAAATAGTGCAACTGAGCAATGAGGTCTGAGAATGAGGAATGGACCTCAGCCGCCATCCCCTCCCCACCTCCAGCCGTGGTTTCCGGGCCTCAGAGAGACGGGGAGAAGTCGTCAAGTGGCAGCTGATGAAATTTGGGGAAGCTGTGGATTTGGGCTCTGGATGGTCAGAGAGGAGGCCTCTAGCTCCTCAGGACAGTGGTTCTGTAGTCGCACGAAGTTGCCCAGAGAAGGTGGCAGGAGGAATACATTCGAAAAGGAGAAATCGGTGCAGGACTAGGGGCCAGGGAAGAAAATGCAGAAATTCTTTGTACCGCCAGGTGAGGTGGCTTACGCCTGTAATCCCACACTTTGGGAGGCCAACACGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTACCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTACTCAGGAGGCTCAGGCTGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGACCGTACCACTGCACTCTCCAGCCTGGGCAACAGAGCGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAGGTACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGACATGAACCCAGGAGGCGGAGCTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAGCAGTGCAAGATTCCGTCTCAAAAAAAAAAAAAAATCCTTTGTACCAGGTGGTAAAGTGCTCCTGCCCTGAGCTCCCCTTAAATGCTGCCTGCCCTCACCCTGGCTCTTCACAGGTCCCCTGCCCTGGCCTCCCCAGGATCCAGTTCTAAAGGGGTCACACTAGCCACTGGACTGGCCCTCAGGACCGCACTGCAACACTGCTATGTGACTAGTCAGTGCCTTATCTGGCCTTTCCAGGTGTGAAATATTTGCAACATCACCCAGGTCTGTGGGGCGGGGGCATCTGGCTCAGTAGCCCCAAGTCTCTATCTGGGGTCACCCAGTGGCCTCTCCATGAACCCCTCTGCCCTGGCCTGGTTGTTGGTCCACCCCCACCCTCAGACCACCGTGTTGCCCTCCAGAAACGTGGGTGACGTGGGCATGTGCATGCCCCTCTCCAGGGAGCTGGAGCTGCGGAGTGGCAGGAGGTGGTGGCCCGGGGTCCCGCCCCGCCTCCGTCCTTGCACCCCCACCCCCGGCCTCCAGCACTGCAGCGGCCGAAGCACCTCCCGCCGCAGGTCCCGGCTGCGCCACGTGTAGATGACGGGGTTGAGCAGGGAATTCAGGGTGGAGACGGCGAAAAAGTAGTGGGCTTTGTAGAGGATCGGGCAGGAGTGGACGGGACAGGCATAGTCCAGAAGGAGGATGCTGAAGGCGGGCAGCCAGCAGACGATAAAGACGCCTAGCACGATGGTGACCGTCTTGAGCAGGGCTAGCGTCTGCGGGGCGGCCATGTCAGCGTGGCTTGAGCGGACCACGCAGTAGATGCGCACGTACAGGGCCACGATGGCCAACAGGATGATGGAGAAGATGGTCACCACGCACAGCACATAATGCTTGGCGTAGAGAGGCAGGACAGTGGAGCAGGCCTCGAGGTGGCCCAGGCAGTTCCAGCCAAGGATGGGCAGGCCACCGAGGACCAGCGAGATGAGCCACGAGGCCCCGATGAGCAGAAGCATGCGGCAGCTCTTGTCGCTGCCATACAGCTTGACCTTGGCAATGGCCACGTGGCGCTCAATGGCGATGGCCAGGAGGCTGAAGACAGAGGCCGAGAGCGTGATGAAGGCAGAGCCCTCCCGGGCAAACCACTGCACAGGCGTCAGCCTCAGCGTGACAGAGCCAGAGAGCAAGGTATTGGCTACGAAGGCCACGCCTGCCAGTAGATCGGAGGCGGCCAGGTTGCCCAGAAACAGGTACATTGCCGAGTGGAACTTGCTGTTTCGGGCCACCGCAATGAGCACCAGAAGGTTTTCCACCACAATGGCGCAACAGAGGATGACGATGAAGGCCGAGGCCACCTGGCGGGAGGTCGTCTCCTGCGTTTCCAGCGTCTCCTTGGTATAATTATAGTGTTCCTGGACCTTGTTGGGGTTCAGGTACTCCGAGTACAAGCTGCCCATGGTGGGGCTCAGAGGCCTGCTGGGGCCATGGGGCTTTCAGAACTGCAGAGAAGACAGACAGACAGACAGACAATAGGTCAGAGCTGTGGCTGCTACCTGGGCTCTGGCCTCGGATGGGCTGAGATTCAATTTCCTGCTCTGTTACTCTTCGAGGAAGGGCCACATGAATTCAGAATCATCATCATCCCCACTTACAGACGGGAAACCCAGAGAGATTAATTCACTTTCCTAAAGTCTCAAATTTAACCAGCGGCAGGGCCAGAGAGACTGGCTCTGCGGCCTCTATAAGCCCTAGGCTACGCTCTTTCTTATTTATTTTATTTATCTATATTTTAAAGACAAGGTCTTGCTCTGTCATTCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCCCTGCAGCCTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCACCTCAGCTTCAGCTACAAGCACATGCCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCAAGGCTGGAGTGCTGCGGCACGGTCTTGGCTCACTGCAACCTCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACGGGCACCTGCCACCAGGCCCAGCTAATTTTTTTTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGCATGGTCTCGAACTTCTGACCTCATGATCCGCCTGCCTCGGCCTCTCAAAGCGCTGGGATTACCAGTGTGAGCCACCGGGCCCAGCCGCCTGGCTAGTTTTTTTGTTTTTTAGAGATTGGGTCTCACTGTGTTGTCCAGGCTGGTCCTGAACTCCTGGCTTCAAGCAATTCTCCTCGGCCTCTCAAAGCAATGAGATTACAGGTATGAACCATGACATCTTGCCTCTTTTAATTTTCATTATTATTTTCTAGAGATAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACAGTTGTCTCTACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGTCTCCTGAGTAGCTACACGCTTTCAAAGGGAAAGAAGCTCCCCCAAATGGCATGAAAAATATAATGTGGACTTCCAGAAACCTTGCCCACCTACCCAGAGAGCAAGCCCTAGGCAGGTCCTGGAGGGTTTGTCTCTTTTCTGGAACACACAGGCGCCTGCGCCCTCATGCTGACCTGGGTCAGGGAGAGTCTCACCACTGATAGCTCCGTGCCCTGCTCATTCATTACCACCCACTAACGCTGGATTTCAGGCTGGGTCTAAGCCTTGAGGCCACGGGTGCTCCCAAGATAAGGTCTTGGGGAGACACCAGGGCGGCCCTGAGATTCAAACATCCCAGAGGTCACACCATCTTCAAGGACACAGACCTTGAAGGCAATCCAGAATTTGCTCCCATTCCACCTCTGAAACACTGGGCAAGTCCCTAGACGCTGTCTCAGCCTGAACCTCCTTATCTGTGCAATAGAGAGAAGAAAGCCCACTTCATGGGGGTGATGGGAAAATCCTTTTAAATGACGCATGAGGCACGTTTAGCTCATAGTAAGCACTCAACAAATACTGCCAAATGTTATTAG 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GAAAGGAGGGTGTCTGTGCAAATATCACACCCAGAATTTTCTCAAGTTGCGCCTTGCATCAAGAGTCCCAAAGTCCTCCCCAGCCACCCAAACTCGTTTTTCTCACTTTTGGTGATTATTCTGTGCCCCAAATAGTGCAACTGAGCAATGAGGTCTGAGAATGAGGAATGGACCTCAGCCGCCATCCCCTCCCCACCTCCAGCCGTGGTTTCCGGGCCTCAGAGAGACGGGGAGAAGTCGTCAAGTGGCAGCTGATGAAATTTGGGGAAGCTGTGGATTTGGGCTCTGGATGGTCAGAGAGGAGGCCTCTAGCTCCTCAGGACAGTGGTTCTGTAGTCGCACGAAGTTGCCCAGAGAAGGTGGCAGGAGGAATACATTCGAAAAGGAGAAATCGGTGCAGGACTAGGGGCCAGGGAAGAAAATGCAGAAATTCTTTGTACCGCCAGGTGAGGTGGCTTACGCCTGTAATCCCACACTTTGGGAGGCCAACACGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTACCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTACTCAGGAGGCTCAGGCTGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGACCGTACCACTGCACTCTCCAGCCTGGGCAACAGAGCGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAGGTACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGACATGAACCCAGGAGGCGGAGCTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAGCAGTGCAAGATTCCGTCTCAAAAAAAAAAAAAAATCCTTTGTACCAGGTGGTAAAGTGCTCCTGCCCTGAGCTCCCCTTAAATGCTGCCTGCCCTCACCCTGGCTCTTCACAGGTCCCCTGCCCTGGCCTCCCCAGGATCCAGTTCTAAAGGGGTCACACTAGCCACTGGACTGGCCCTCAGGACCGCACTGCAACACTGCTATGTGACTAGTCAGTGCCTTATCTGGCCTTTCCAGGTGTGAAATATTTGCAACATCACCCAGGTCTGTGGGGCGGGGGCATCTGGCTCAGTAGCCCCAAGTCTCTATCTGGGGTCACCCAGTGGCCTCTCCATGAACCCCTCTGCCCTGGCCTGGTTGTTGGTCCACCCCCACCCTCAGACCACCGTGTTGCCCTCCAGAAACGTGGGTGACGTGGGCATGTGCATGCCCCTCTCCAGGGAGCTGGAGCTGCGGAGTGGCAGGAGGTGGTGGCCCGGGGTCCCGCCCCGCCTCCGTCCTTGCACCCCCACCCCCGGCCTCCAGCACTGCAGCGGCCGAAGCACCTCCCGCCGCAGGTCCCGGCTGCGCCACGTGTAGATGACGGGGTTGAGCAGGGAATTCAGGGTGGAGACGGCGAAAAAGTAGTGGGCTTTGTAGAGGATCGGGCAGGAGTGGACGGGACAGGCATAGTCCAGAAGGAGGATGCTGAAGGCGGGCAGCCAGCAGACGATAAAGACGCCTAGCACGATGGTGACCGTCTTGAGCAGGGCTAGCGTCTGCGGGGCGGCCATGTCAGCGTGGCTTGAGCGGACCACGCAGTAGATGCGCACGTACAGGGCCACGATGGCCAACAGGATGATGGAGAAGATGGTCACCACGCACAGCACATAATGCTTGGCGTAGAGAGGCAGGACAGTGGAGCAGGCCTCGAGGTGGCCCAGGCAGTTCCAGCCAAGGATGGGCAGGCCACCGAGGACCAGCGAGATGAGCCACGAGGCCCCGATGAGCAGAAGCATGCGGCAGCTCTTGTCGCTGCCACACAGCTTGACCTTGGCAATGGCCACGTGGCGCTCAATGGCGATGGCCAGGAGGCTGAAGACAGAGGCCGAGAGCGTGATGAAGGCAGAGCCCTCCCGGGCAAACCACTGCACAGGCGTCAGCCTCAGCGTGACAGAGCCAGAGAGCAAGGTATTGGCTACGAAGGCCACGCCTGCCAGTAGATCGGAGGCGGCCAGGTTGCCCAGAAACAGGTACATTGCCGAGTGGAACTTGCTGTTTCGGGCCACCGCAATGAGCACCAGAAGGTTTTCCACCACAATGGCGCAACAGAGGATGACGATGAAGGCCGAGGCCACCTGGCGGGAGGTCGTCTCCTGCGTTTCCAGCGTCTCCTTGGTATAATTATAGTGTTCCTGGACCTTGTTGGGGTTCAGGTACTCCGAGTACAAGCTGCCCATGGTGGGGCTCAGAGGCCTGCTGGGGCCATGGGGCTTTCAGAACTGCAGAGAAGACAGACAGACAGACAGACAATAGGTCAGAGCTGTGGCTGCTACCTGGGCTCTGGCCTCGGATGGGCTGAGATTCAATTTCCTGCTCTGTTACTCTTCGAGGAAGGGCCACATGAATTCAGAATCATCATCATCCCCACTTACAGACGGGAAACCCAGAGAGATTAATTCACTTTCCTAAAGTCTCAAATTTAACCAGCGGCAGGGCCAGAGAGACTGGCTCTGCGGCCTCTATAAGCCCTAGGCTACGCTCTTTCTTATTTATTTTATTTATCTATATTTTAAAGACAAGGTCTTGCTCTGTCATTCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCCCTGCAGCCTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCACCTCAGCTTCAGCTACAAGCACATGCCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCAAGGCTGGAGTGCTGCGGCACGGTCTTGGCTCACTGCAACCTCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACGGGCACCTGCCACCAGGCCCAGCTAATTTTTTTTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGCATGGTCTCGAACTTCTGACCTCATGATCCGCCTGCCTCGGCCTCTCAAAGCGCTGGGATTACCAGTGTGAGCCACCGGGCCCAGCCGCCTGGCTAGTTTTTTTGTTTTTTAGAGATTGGGTCTCACTGTGTTGTCCAGGCTGGTCCTGAACTCCTGGCTTCAAGCAATTCTCCTCGGCCTCTCAAAGCAATGAGATTACAGGTATGAACCATGACATCTTGCCTCTTTTAATTTTCATTATTATTTTCTAGAGATAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACAGTTGTCTCTACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGTCTCCTGAGTAGCTACACGCTTTCAAAGGGAAAGAAGCTCCCCCAAATGGCATGAAAAATATAATGTGGACTTCCAGAAACCTTGCCCACCTACCCAGAGAGCAAGCCCTAGGCAGGTCCTGGAGGGTTTGTCTCTTTTCTGGAACACACAGGCGCCTGCGCCCTCATGCTGACCTGGGTCAGGGAGAGTCTCACCACTGATAGCTCCGTGCCCTGCTCATTCATTACCACCCACTAACGCTGGATTTCAGGCTGGGTCTAAGCCTTGAGGCCACGGGTGCTCCCAAGATAAGGTCTTGGGGAGACACCAGGGCGGCCCTGAGATTCAAACATCCCAGAGGTCACACCATCTTCAAGGACACAGACCTTGAAGGCAATCCAGAATTTGCTCCCATTCCACCTCTGAAACACTGGGCAAGTCCCTAGACGCTGTCTCAGCCTGAACCTCCTTATCTGTGCAATAGAGAGAAGAAAGCCCACTTCATGGGGGTGATGGGAAAATCCTTTTAAATGACGCATGAGGCACGTTTAGCTCATAGTAAGCACTCAACAAATACTGCCAAATGTTATTAG 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Task1_train_26406 | Here’s a variant in S1PR2 (sphingosine-1-phosphate receptor 2) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 68 | TTTTTCTCACTTTTGGTGATTATTCTGTGCCCCAAATAGTGCAACTGAGCAATGAGGTCTGAGAATGAGGAATGGACCTCAGCCGCCATCCCCTCCCCACCTCCAGCCGTGGTTTCCGGGCCTCAGAGAGACGGGGAGAAGTCGTCAAGTGGCAGCTGATGAAATTTGGGGAAGCTGTGGATTTGGGCTCTGGATGGTCAGAGAGGAGGCCTCTAGCTCCTCAGGACAGTGGTTCTGTAGTCGCACGAAGTTGCCCAGAGAAGGTGGCAGGAGGAATACATTCGAAAAGGAGAAATCGGTGCAGGACTAGGGGCCAGGGAAGAAAATGCAGAAATTCTTTGTACCGCCAGGTGAGGTGGCTTACGCCTGTAATCCCACACTTTGGGAGGCCAACACGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTACCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTACTCAGGAGGCTCAGGCTGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGACCGTACCACTGCACTCTCCAGCCTGGGCAACAGAGCGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAGGTACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGACATGAACCCAGGAGGCGGAGCTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAGCAGTGCAAGATTCCGTCTCAAAAAAAAAAAAAAATCCTTTGTACCAGGTGGTAAAGTGCTCCTGCCCTGAGCTCCCCTTAAATGCTGCCTGCCCTCACCCTGGCTCTTCACAGGTCCCCTGCCCTGGCCTCCCCAGGATCCAGTTCTAAAGGGGTCACACTAGCCACTGGACTGGCCCTCAGGACCGCACTGCAACACTGCTATGTGACTAGTCAGTGCCTTATCTGGCCTTTCCAGGTGTGAAATATTTGCAACATCACCCAGGTCTGTGGGGCGGGGGCATCTGGCTCAGTAGCCCCAAGTCTCTATCTGGGGTCACCCAGTGGCCTCTCCATGAACCCCTCTGCCCTGGCCTGGTTGTTGGTCCACCCCCACCCTCAGACCACCGTGTTGCCCTCCAGAAACGTGGGTGACGTGGGCATGTGCATGCCCCTCTCCAGGGAGCTGGAGCTGCGGAGTGGCAGGAGGTGGTGGCCCGGGGTCCCGCCCCGCCTCCGTCCTTGCACCCCCACCCCCGGCCTCCAGCACTGCAGCGGCCGAAGCACCTCCCGCCGCAGGTCCCGGCTGCGCCACGTGTAGATGACGGGGTTGAGCAGGGAATTCAGGGTGGAGACGGCGAAAAAGTAGTGGGCTTTGTAGAGGATCGGGCAGGAGTGGACGGGACAGGCATAGTCCAGAAGGAGGATGCTGAAGGCGGGCAGCCAGCAGACGATAAAGACGCCTAGCACGATGGTGACCGTCTTGAGCAGGGCTAGCGTCTGCGGGGCGGCCATGTCAGCGTGGCTTGAGCGGACCACGCAGTAGATGCGCACGTACAGGGCCACGATGGCCAACAGGATGATGGAGAAGATGGTCACCACGCACAGCACATAATGCTTGGCGTAGAGAGGCAGGACAGTGGAGCAGGCCTCGAGGTGGCCCAGGCAGTTCCAGCCAAGGATGGGCAGGCCACCGAGGACCAGCGAGATGAGCCACGAGGCCCCGATGAGCAGAAGCATGCGGCAGCTCTTGTCGCTGCCATACAGCTTGACCTTGGCAATGGCCACGTGGCGCTCAATGGCGATGGCCAGGAGGCTGAAGACAGAGGCCGAGAGCGTGATGAAGGCAGAGCCCTCCCGGGCAAACCACTGCACAGGCGTCAGCCTCAGCGTGACAGAGCCAGAGAGCAAGGTATTGGCTACGAAGGCCACGCCTGCCAGTAGATCGGAGGCGGCCAGGTTGCCCAGAAACAGGTACATTGCCGAGTGGAACTTGCTGTTTCGGGCCACCGCAATGAGCACCAGAAGGTTTTCCACCACAATGGCGCAACAGAGGATGACGATGAAGGCCGAGGCCACCTGGCGGGAGGTCGTCTCCTGCGTTTCCAGCGTCTCCTTGGTATAATTATAGTGTTCCTGGACCTTGTTGGGGTTCAGGTACTCCGAGTACAAGCTGCCCATGGTGGGGCTCAGAGGCCTGCTGGGGCCATGGGGCTTTCAGAACTGCAGAGAAGACAGACAGACAGACAGACAATAGGTCAGAGCTGTGGCTGCTACCTGGGCTCTGGCCTCGGATGGGCTGAGATTCAATTTCCTGCTCTGTTACTCTTCGAGGAAGGGCCACATGAATTCAGAATCATCATCATCCCCACTTACAGACGGGAAACCCAGAGAGATTAATTCACTTTCCTAAAGTCTCAAATTTAACCAGCGGCAGGGCCAGAGAGACTGGCTCTGCGGCCTCTATAAGCCCTAGGCTACGCTCTTTCTTATTTATTTTATTTATCTATATTTTAAAGACAAGGTCTTGCTCTGTCATTCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCCCTGCAGCCTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCACCTCAGCTTCAGCTACAAGCACATGCCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCAAGGCTGGAGTGCTGCGGCACGGTCTTGGCTCACTGCAACCTCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACGGGCACCTGCCACCAGGCCCAGCTAATTTTTTTTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGCATGGTCTCGAACTTCTGACCTCATGATCCGCCTGCCTCGGCCTCTCAAAGCGCTGGGATTACCAGTGTGAGCCACCGGGCCCAGCCGCCTGGCTAGTTTTTTTGTTTTTTAGAGATTGGGTCTCACTGTGTTGTCCAGGCTGGTCCTGAACTCCTGGCTTCAAGCAATTCTCCTCGGCCTCTCAAAGCAATGAGATTACAGGTATGAACCATGACATCTTGCCTCTTTTAATTTTCATTATTATTTTCTAGAGATAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACAGTTGTCTCTACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGTCTCCTGAGTAGCTACACGCTTTCAAAGGGAAAGAAGCTCCCCCAAATGGCATGAAAAATATAATGTGGACTTCCAGAAACCTTGCCCACCTACCCAGAGAGCAAGCCCTAGGCAGGTCCTGGAGGGTTTGTCTCTTTTCTGGAACACACAGGCGCCTGCGCCCTCATGCTGACCTGGGTCAGGGAGAGTCTCACCACTGATAGCTCCGTGCCCTGCTCATTCATTACCACCCACTAACGCTGGATTTCAGGCTGGGTCTAAGCCTTGAGGCCACGGGTGCTCCCAAGATAAGGTCTTGGGGAGACACCAGGGCGGCCCTGAGATTCAAACATCCCAGAGGTCACACCATCTTCAAGGACACAGACCTTGAAGGCAATCCAGAATTTGCTCCCATTCCACCTCTGAAACACTGGGCAAGTCCCTAGACGCTGTCTCAGCCTGAACCTCCTTATCTGTGCAATAGAGAGAAGAAAGCCCACTTCATGGGGGTGATGGGAAAATCCTTTTAAATGACGCATGAGGCACGTTTAGCTCATAGTAAGCACTCAACAAATACTGCCAAATGTTATTAGCTCCCCTCTTTCCTCCAGTCCTTTGGGAAGGGAAGGGATGTAAGCCAACCAGACGAGATCTCCAACAGCCTGTTCTCATCAGCACCATCTAGCTCT 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TTTTTCTCACTTTTGGTGATTATTCTGTGCCCCAAATAGTGCAACTGAGCAATGAGGTCTGAGAATGAGGAATGGACCTCAGCCGCCATCCCCTCCCCACCTCCAGCCGTGGTTTCCGGGCCTCAGAGAGACGGGGAGAAGTCGTCAAGTGGCAGCTGATGAAATTTGGGGAAGCTGTGGATTTGGGCTCTGGATGGTCAGAGAGGAGGCCTCTAGCTCCTCAGGACAGTGGTTCTGTAGTCGCACGAAGTTGCCCAGAGAAGGTGGCAGGAGGAATACATTCGAAAAGGAGAAATCGGTGCAGGACTAGGGGCCAGGGAAGAAAATGCAGAAATTCTTTGTACCGCCAGGTGAGGTGGCTTACGCCTGTAATCCCACACTTTGGGAGGCCAACACGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTACCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTACTCAGGAGGCTCAGGCTGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGACCGTACCACTGCACTCTCCAGCCTGGGCAACAGAGCGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAGGTACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGACATGAACCCAGGAGGCGGAGCTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAGCAGTGCAAGATTCCGTCTCAAAAAAAAAAAAAAATCCTTTGTACCAGGTGGTAAAGTGCTCCTGCCCTGAGCTCCCCTTAAATGCTGCCTGCCCTCACCCTGGCTCTTCACAGGTCCCCTGCCCTGGCCTCCCCAGGATCCAGTTCTAAAGGGGTCACACTAGCCACTGGACTGGCCCTCAGGACCGCACTGCAACACTGCTATGTGACTAGTCAGTGCCTTATCTGGCCTTTCCAGGTGTGAAATATTTGCAACATCACCCAGGTCTGTGGGGCGGGGGCATCTGGCTCAGTAGCCCCAAGTCTCTATCTGGGGTCACCCAGTGGCCTCTCCATGAACCCCTCTGCCCTGGCCTGGTTGTTGGTCCACCCCCACCCTCAGACCACCGTGTTGCCCTCCAGAAACGTGGGTGACGTGGGCATGTGCATGCCCCTCTCCAGGGAGCTGGAGCTGCGGAGTGGCAGGAGGTGGTGGCCCGGGGTCCCGCCCCGCCTCCGTCCTTGCACCCCCACCCCCGGCCTCCAGCACTGCAGCGGCCGAAGCACCTCCCGCCGCAGGTCCCGGCTGCGCCACGTGTAGATGACGGGGTTGAGCAGGGAATTCAGGGTGGAGACGGCGAAAAAGTAGTGGGCTTTGTAGAGGATCGGGCAGGAGTGGACGGGACAGGCATAGTCCAGAAGGAGGATGCTGAAGGCGGGCAGCCAGCAGACGATAAAGACGCCTAGCACGATGGTGACCGTCTTGAGCAGGGCTAGCGTCTGCGGGGCGGCCATGTCAGCGTGGCTTGAGCGGACCACGCAGTAGATGCGCACGTACAGGGCCACGATGGCCAACAGGATGATGGAGAAGATGGTCACCACGCACAGCACATAATGCTTGGCGTAGAGAGGCAGGACAGTGGAGCAGGCCTCGAGGTGGCCCAGGCAGTTCCAGCCAAGGATGGGCAGGCCACCGAGGACCAGCGAGATGAGCCACGAGGCCCCGATGAGCAGAAGCATGCGGCAGCTCTTGTCGCTGCCATACAGCTTGACCTTGGCAATGGCCACGTGGCGCTCAATGGCGATGGCCAGGAGGCTGAAGACAGAGGCCGAGAGCGTGATGAAGGCAGAGCCCTCCGGGGCAAACCACTGCACAGGCGTCAGCCTCAGCGTGACAGAGCCAGAGAGCAAGGTATTGGCTACGAAGGCCACGCCTGCCAGTAGATCGGAGGCGGCCAGGTTGCCCAGAAACAGGTACATTGCCGAGTGGAACTTGCTGTTTCGGGCCACCGCAATGAGCACCAGAAGGTTTTCCACCACAATGGCGCAACAGAGGATGACGATGAAGGCCGAGGCCACCTGGCGGGAGGTCGTCTCCTGCGTTTCCAGCGTCTCCTTGGTATAATTATAGTGTTCCTGGACCTTGTTGGGGTTCAGGTACTCCGAGTACAAGCTGCCCATGGTGGGGCTCAGAGGCCTGCTGGGGCCATGGGGCTTTCAGAACTGCAGAGAAGACAGACAGACAGACAGACAATAGGTCAGAGCTGTGGCTGCTACCTGGGCTCTGGCCTCGGATGGGCTGAGATTCAATTTCCTGCTCTGTTACTCTTCGAGGAAGGGCCACATGAATTCAGAATCATCATCATCCCCACTTACAGACGGGAAACCCAGAGAGATTAATTCACTTTCCTAAAGTCTCAAATTTAACCAGCGGCAGGGCCAGAGAGACTGGCTCTGCGGCCTCTATAAGCCCTAGGCTACGCTCTTTCTTATTTATTTTATTTATCTATATTTTAAAGACAAGGTCTTGCTCTGTCATTCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCCCTGCAGCCTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCACCTCAGCTTCAGCTACAAGCACATGCCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCAAGGCTGGAGTGCTGCGGCACGGTCTTGGCTCACTGCAACCTCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACGGGCACCTGCCACCAGGCCCAGCTAATTTTTTTTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGCATGGTCTCGAACTTCTGACCTCATGATCCGCCTGCCTCGGCCTCTCAAAGCGCTGGGATTACCAGTGTGAGCCACCGGGCCCAGCCGCCTGGCTAGTTTTTTTGTTTTTTAGAGATTGGGTCTCACTGTGTTGTCCAGGCTGGTCCTGAACTCCTGGCTTCAAGCAATTCTCCTCGGCCTCTCAAAGCAATGAGATTACAGGTATGAACCATGACATCTTGCCTCTTTTAATTTTCATTATTATTTTCTAGAGATAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACAGTTGTCTCTACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGTCTCCTGAGTAGCTACACGCTTTCAAAGGGAAAGAAGCTCCCCCAAATGGCATGAAAAATATAATGTGGACTTCCAGAAACCTTGCCCACCTACCCAGAGAGCAAGCCCTAGGCAGGTCCTGGAGGGTTTGTCTCTTTTCTGGAACACACAGGCGCCTGCGCCCTCATGCTGACCTGGGTCAGGGAGAGTCTCACCACTGATAGCTCCGTGCCCTGCTCATTCATTACCACCCACTAACGCTGGATTTCAGGCTGGGTCTAAGCCTTGAGGCCACGGGTGCTCCCAAGATAAGGTCTTGGGGAGACACCAGGGCGGCCCTGAGATTCAAACATCCCAGAGGTCACACCATCTTCAAGGACACAGACCTTGAAGGCAATCCAGAATTTGCTCCCATTCCACCTCTGAAACACTGGGCAAGTCCCTAGACGCTGTCTCAGCCTGAACCTCCTTATCTGTGCAATAGAGAGAAGAAAGCCCACTTCATGGGGGTGATGGGAAAATCCTTTTAAATGACGCATGAGGCACGTTTAGCTCATAGTAAGCACTCAACAAATACTGCCAAATGTTATTAGCTCCCCTCTTTCCTCCAGTCCTTTGGGAAGGGAAGGGATGTAAGCCAACCAGACGAGATCTCCAACAGCCTGTTCTCATCAGCACCATCTAGCTCT 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Task1_train_26407 | The gene TYK2 (tyrosine kinase 2) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Immunodeficiency 35 | CAAAGGAAGTCTCACCTCACAGGGACATTTGTCGGGCCGTGGCAGCCTCTCCCCTCGTTCCAGCAACTCAGTGAGTCTCAGAACTGTCATCTGACCCTGAGCAATGCCTATGAGCTCAAGGAATTTCTACAGTATAAACAAGACAAGCTCTTTTCAAGAGGCAATGAAAGGCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATAATGGCAGGCGCCCGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGATACAAGTGTGAAACTCCATCTCAAAAAAGAAAAAGAAATCACTCTGCAACTTCATGAAATCGACTGCATGGGTTCCAATCCCACCTCTTACACTTCTCAGCTGTGTGACTTTGAATTTGAGTTCACTTCTCTGGGCCTGTTTTCTCATCCGTAAAATAGGGTAATAACATCTGCCACCTGGGATTACTGTGAACGTTAAACTAATATTCATAGAGTAAGCGTGAGTCAGGTGTTTGCCGTTATTATTAAGCCTCACAGCAGATTGTTCTTACCGTCCAGAATTTTTTTTTTGAGACAGTCTCTCGCTCTTTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTTCGCCTACCGGGTTCAAGCAATTCTCCCTGCCTCAGCCGCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTCAGCCACCGCGCCCGGCCTATGCCTTTCTTTCCTTTCTTTTCTTTCTCTCTCTCTCCGTCCTGTCCTGTCTTAGACGGAGTCTCGCTCTGTCACCCAGCTGGAGTGCAGTCGGGAGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGTTTCACCGTGTTAGCCAGGTTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGCCTATGCCTTTCTAATTGCTCTAGCAAACTCCCGGTGGGGCTGCGGGCCTGGCTCTCACCGTGGGGGGGCTCTGGCTGGAGTCACAGTGCGTCAGCAGCTCATACAGGGTCACCCCGAAGGACCAGACATCTGACGCATAGTAGAACTTATACTCCTTCAGGCACTCTGGGGCATACCTAGGGGGAGGGGGGCACTCAGGCCACGGGGGGCTGCACTGAGGGCTTGGGGATCAGACCAGGCTGAAGCCCTCACCTGAGACTGAAGGACCCTCTGGGCTCAGTTGGGACCCACCCTTAAGAGCGCAGCCTGAGCGGGGTGATATGCTCATTGGCTAGGCCGCTCATTGGCTAGGCCGGGTTAACCCCGCCCACCAGGCCAAGCCGCACTCTATACACCGCCCCTTGCCTCCATAGGCCCCACCCCCGCACCGCTAGGCCCCGCCGCGCTTCACTGGGATCATGCCCTATCATGATACCCAGCATCCGTCTACTCCACCCTGCCTGTTCCAAGTGACCCCAGCACCCCCTCAGACTGCACCCCGCCTGGTCACCAGAACACGGGGCTGTCCCCATCCTCGCGCACGCGGTAGTACTCGTGGCCTTCGGGCACGGCCTTGGCTAGGCCAAAGTCCCCGATCTTGACCAGCCTGTCGTTGTCCAGCAGCACGTTGCGCGCGGCTAGGTCTCGGTGGATGTAGTGCTGCGCGTGCAGATAGGCCATGCCCTGGGGACGGGGCAGGGCTCGTGAGTTTCAGTGGGGCGGGGTTCGGCCGGGGGCGGCGGCAGGACCTGAGCAGCCAGGAGGGCTGGGGGACAGTCAGGTCAGGCCGGTGGCTACCCGGCCGCTGGAGAGGGCCGGATGGCACGTGGCACCAAGCAAAAGGAGGCTGAGCCAGAAAGCAGGGACGGGGCTAGACGAGCAAAGCTGGGCAGGAGGGCGAGTTGGGAGGGGCCGAGCCGGCTGTGCGTGGTCCCTTGGGAGGAGGGGGTGTGGCCAAGCAAGCCAAACAGTTCGGAGGTCAGTGCAAGGACAAGACAGCCTGGGCAAACGAGCAGGGGCGGAGCGTGAGAGCAGACTGCACCGGATCGCTCAGGCCAGCCCAAGCTGAAGAGGAAGGGGCAAGCTCCAGAAGCAGGGGCGGGGCCGACCAACCTCGCAGATCTGCTGGGCGAAGAGCAGCAGCTGGGCCAGCCCGATGCTGTGCCGGGGCAGGTAGTCTCGGAGGCTGCCCAGGGGCACGTACTCCATGACCAGCTGCAGCGACTTCTCGCCTGCCGCGGAGAGGGGCGGCCCCGGTGGGGGACGATAGAGGGCGGGCCGGGGACCGCCTACCTTGAGCCCAGCAGAGCCCCTCCAAGGTCGGGAGGGAAGGCCAAGACCCGCGCACACTAGACCCAGTTCTCAGGTGGGATGGACCCATCCAGAACCCCATTCTCACTTGAGGGAGCTGCTGGTGGCTCCCGTCCATCCTGGCCCCAGCAGGTAGCACCCCCCAGATGGGAAGGAGGCAGCCCAGCCACGCTCACCCAGATGCCAAGAACCGCGTACTGCAGCCTGGGGTTGAGAGTCTCTAATTGGCTAGGCCAGACTGGCCCCGCCCACAAGGCCACACCCACGCTCTAACCACGCCCCCTCAAGTCTCTAGGACTCGCCGGGTCCCGCCCACCTTGGTCCTCGCAGCAGCCCTTGTACTTGATGATGTGCTCGTGGTAGAGCGTGCGCAGAATGTCAATCTCCTGCTTCCAGCCCGAGCGGTGCTGGGGGCCGCAGTCTGCCTTGAGGGCTTTCACCGCCACCATCTCGCCAGTGCCGTCGTTGGTCGGATCGTAGCAGTACAAGCTGACCTTGCCGAAGTGACCCTGGTCGGGAGCGCACGAGGGTCAGCTCCACCTCCCCAATCCCTGCACCACTCCCCAACCCCCGATTTCCCGGGCCACTCCTCCAGGCAGATCCTTTCGGAATACCCCAGGCCCCGCCTACTCCGCTCTATTAAGACTCCTTGGCACCTAGGCCTCCCTCAAAGCAGAGGGTCCCACCCACATCTCCTGAGAATCACCTTAGGTAGGAATTTATCCTCAACCCCCAAACTCCTTCCCGACCAGGCGGGCCTTTTAGCAGCTCAGGCCCGTCCCTCACCTCGCCCAGATCTCGGATCTTTTTCAAATAGCGCTTGTGGAAAACCGTAGGGTCCGACGCCGGTGAGTCCGGGTTCACAGTCAAGACGTCAGCAAGATCTGGAAGAGTTGCGGTGGGTAAAGGCCTGACCCCGATCCTTTCCCCAGCAGGCCCACACTTGGGAGTCACAAAGCCAGCCACAGCTACCCCAGGATCCGATTCTAGAGGTAAGAAAACTTTTTCCTGCAACAGCTGAAAGAGTCCACTTATTGTACAAAATGATGCAGAGTTGGCTGCATCAAAACTGACACCTGTTTGGGAGGCCGAGGCGGGAAGATCACTTGAGCCCGGGAGTTCAAGACCAGCCTGGACAACATGGTGAAACCCCCTCTCTACAAAAAAGTTAAAAAAAAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCGTTTGAGCCCAGGAGTTTTGAGGCTGCAGTGAGTCTGGGCCACAGAGAGACACTGTCTTTAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAGAAAAAACAGAAAAACCTGACATCTGGAAGTTCCGAGATTGGGTAGAGGGCACAGATATTTCATAGAGAA 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CAAAGGAAGTCTCACCTCACAGGGACATTTGTCGGGCCGTGGCAGCCTCTCCCCTCGTTCCAGCAACTCAGTGAGTCTCAGAACTGTCATCTGACCCTGAGCAATGCCTATGAGCTCAAGGAATTTCTACAGTATAAACAAGACAAGCTCTTTTCAAGAGGCAATGAAAGGCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATAATGGCAGGCGCCCGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGATACAAGTGTGAAACTCCATCTCAAAAAAGAAAAAGAAATCACTCTGCAACTTCATGAAATCGACTGCATGGGTTCCAATCCCACCTCTTACACTTCTCAGCTGTGTGACTTTGAATTTGAGTTCACTTCTCTGGGCCTGTTTTCTCATCCGTAAAATAGGGTAATAACATCTGCCACCTGGGATTACTGTGAACGTTAAACTAATATTCATAGAGTAAGCGTGAGTCAGGTGTTTGCCGTTATTATTAAGCCTCACAGCAGATTGTTCTTACCGTCCAGAATTTTTTTTTTGAGACAGTCTCTCGCTCTTTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTTCGCCTACCGGGTTCAAGCAATTCTCCCTGCCTCAGCCGCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTCAGCCACCGCGCCCGGCCTATGCCTTTCTTTCCTTTCTTTTCTTTCTCTCTCTCTCCGTCCTGTCCTGTCTTAGACGGAGTCTCGCTCTGTCACCCAGCTGGAGTGCAGTCGGGAGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGTTTCACCGTGTTAGCCAGGTTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGCCTATGCCTTTCTAATTGCTCTAGCAAACTCCCGGTGGGGCTGCGGGCCTGGCTCTCACCGTGGGGGGGCTCTGGCTGGAGTCACAGTGCGTCAGCAGCTCATACAGGGTCACCCCGAAGGACCAGACATCTGACGCATAGTAGAACTTATACTCCTTCAGGCACTCTGGGGCATACCTAGGGGGAGGGGGGCACTCAGGCCACGGGGGGCTGCACTGAGGGCTTGGGGATCAGACCAGGCTGAAGCCCTCACCTGAGACTGAAGGACCCTCTGGGCTCAGTTGGGACCCACCCTTAAGAGCGCAGCCTGAGCGGGGTGATATGCTCATTGGCTAGGCCGCTCATTGGCTAGGCCGGGTTAACCCCGCCCACCAGGCCAAGCCGCACTCTATACACCGCCCCTTGCCTCCATAGGCCCCACCCCCGCACCGCTAGGCCCCGCCGCGCTTCACTGGGATCATGCCCTATCATGATACCCAGCATCCGTCTACTCCACCCTGCCTGTTCCAAGTGACCCCAGCACCCCCTCAGACTGCACCCCGCCTGGTCACCAGAACACGGGGCTGTCCCCATCCTCGCGCACGCGGTAGTACTCGTGGCCTTCGGGCACGGCCTTGGCTAGGCCAAAGTCCCCGATCTTGACCAGCCTGTCGTTGTCCAGCAGCACGTTGCGCGCGGCTAGGTCTCGGTGGATGTAGTGCTGCGCGTGCGGATAGGCCATGCCCTGGGGACGGGGCAGGGCTCGTGAGTTTCAGTGGGGCGGGGTTCGGCCGGGGGCGGCGGCAGGACCTGAGCAGCCAGGAGGGCTGGGGGACAGTCAGGTCAGGCCGGTGGCTACCCGGCCGCTGGAGAGGGCCGGATGGCACGTGGCACCAAGCAAAAGGAGGCTGAGCCAGAAAGCAGGGACGGGGCTAGACGAGCAAAGCTGGGCAGGAGGGCGAGTTGGGAGGGGCCGAGCCGGCTGTGCGTGGTCCCTTGGGAGGAGGGGGTGTGGCCAAGCAAGCCAAACAGTTCGGAGGTCAGTGCAAGGACAAGACAGCCTGGGCAAACGAGCAGGGGCGGAGCGTGAGAGCAGACTGCACCGGATCGCTCAGGCCAGCCCAAGCTGAAGAGGAAGGGGCAAGCTCCAGAAGCAGGGGCGGGGCCGACCAACCTCGCAGATCTGCTGGGCGAAGAGCAGCAGCTGGGCCAGCCCGATGCTGTGCCGGGGCAGGTAGTCTCGGAGGCTGCCCAGGGGCACGTACTCCATGACCAGCTGCAGCGACTTCTCGCCTGCCGCGGAGAGGGGCGGCCCCGGTGGGGGACGATAGAGGGCGGGCCGGGGACCGCCTACCTTGAGCCCAGCAGAGCCCCTCCAAGGTCGGGAGGGAAGGCCAAGACCCGCGCACACTAGACCCAGTTCTCAGGTGGGATGGACCCATCCAGAACCCCATTCTCACTTGAGGGAGCTGCTGGTGGCTCCCGTCCATCCTGGCCCCAGCAGGTAGCACCCCCCAGATGGGAAGGAGGCAGCCCAGCCACGCTCACCCAGATGCCAAGAACCGCGTACTGCAGCCTGGGGTTGAGAGTCTCTAATTGGCTAGGCCAGACTGGCCCCGCCCACAAGGCCACACCCACGCTCTAACCACGCCCCCTCAAGTCTCTAGGACTCGCCGGGTCCCGCCCACCTTGGTCCTCGCAGCAGCCCTTGTACTTGATGATGTGCTCGTGGTAGAGCGTGCGCAGAATGTCAATCTCCTGCTTCCAGCCCGAGCGGTGCTGGGGGCCGCAGTCTGCCTTGAGGGCTTTCACCGCCACCATCTCGCCAGTGCCGTCGTTGGTCGGATCGTAGCAGTACAAGCTGACCTTGCCGAAGTGACCCTGGTCGGGAGCGCACGAGGGTCAGCTCCACCTCCCCAATCCCTGCACCACTCCCCAACCCCCGATTTCCCGGGCCACTCCTCCAGGCAGATCCTTTCGGAATACCCCAGGCCCCGCCTACTCCGCTCTATTAAGACTCCTTGGCACCTAGGCCTCCCTCAAAGCAGAGGGTCCCACCCACATCTCCTGAGAATCACCTTAGGTAGGAATTTATCCTCAACCCCCAAACTCCTTCCCGACCAGGCGGGCCTTTTAGCAGCTCAGGCCCGTCCCTCACCTCGCCCAGATCTCGGATCTTTTTCAAATAGCGCTTGTGGAAAACCGTAGGGTCCGACGCCGGTGAGTCCGGGTTCACAGTCAAGACGTCAGCAAGATCTGGAAGAGTTGCGGTGGGTAAAGGCCTGACCCCGATCCTTTCCCCAGCAGGCCCACACTTGGGAGTCACAAAGCCAGCCACAGCTACCCCAGGATCCGATTCTAGAGGTAAGAAAACTTTTTCCTGCAACAGCTGAAAGAGTCCACTTATTGTACAAAATGATGCAGAGTTGGCTGCATCAAAACTGACACCTGTTTGGGAGGCCGAGGCGGGAAGATCACTTGAGCCCGGGAGTTCAAGACCAGCCTGGACAACATGGTGAAACCCCCTCTCTACAAAAAAGTTAAAAAAAAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCGTTTGAGCCCAGGAGTTTTGAGGCTGCAGTGAGTCTGGGCCACAGAGAGACACTGTCTTTAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAGAAAAAACAGAAAAACCTGACATCTGGAAGTTCCGAGATTGGGTAGAGGGCACAGATATTTCATAGAGAA 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Task1_train_26408 | This alteration occurs within gene TYK2 (tyrosine kinase 2) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Immunodeficiency 35 | TCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACCCAGGAGGCTGAGGCAGGACAATTACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAGAAAAAAGAGCATATTAATTTTTTAAAGAGAACAATACAAAACTTTTTTAAAAAGAAAAAAAAAACTGCAGTGGTCTAATTCTCTAATCCAAAGAAGTTGTGTCTCTCCCCAGACAAAACATTAAGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCTGAAGCAGATAGATCATTTGAGGTCTAGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCACCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACACGCTTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGTCACTGCGCTCCAGGCTGGGTGACAGAGCAAGATTCCATTGCAAATAAATAAATAAATACATTAATGAGAGCTCAGGGCAGCCAGGCAGGGCATGCTTATGAATGCCACTGCAAGAAATTGGCACACACCCTGAACCACTGTGCAGAGACCTCTCGTGCGCTATAGGCATACAGCAGGGATCCCAGCCCCGTCCCACTTCCCCAGGGTCCCAGCACTGGGATGGAGCTCACTGTGGGGCTGCAGCCGGGTGAGGTCACGCAGGATGGTGCGGAATGATGGCCTCTGGGTTGGCTCATAGGTCAGACACTGGCTGGTGAGTGTGGCCAGCTGTGGGCAGGAGGGCTCGGGCAGCCGGTGCTGCCTCTGGTAGAAATGCTCCTTCTGTTGGGAAAGGGACCCAGAGGAGTCAACATCCTCCCCTCGCCCCCAACCCGTTCCCCAAGAGGCAGAGTCAAGTCCCCAGAGTGGACCGCCAGGTGCCCGCTCTTATCAGTTCCATTATACAGATGAGGCAACTGAGGCTCCACAAAGTGGGAGGACGTGCTCACAGCCGTAGAACCAGGACTGGGACCCAGGTCCAGTGATTATGCAGAGCTGGAGTGTCACAGTCAGCCTCCTGCCCCAAGCTTCCCTCCTGCCCCTCCTGTAGACCACAGCTCCTTAATACACTGAAGCCTCAGCCTTTGCACAGGCCATGCACTCTGCCTAGGCTGCCCTTCCTAGCCAGGCTTGTTGGCATAATTCTACACTTAGATAAAACCTCTTCTGGGGCCGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATAATGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCGGGTGTGGTGGCATGTGCCTGTAATCCCCCCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTGGGCAATTAGAGTGGAACTTCGTCTCAAAATAAAACCACCACACTCATGAACCTCCTTTGGGAAGCCTTGTCTGACCCCACTGCTGGGTGAGGCGCATCCTCAGCCCTTCTTCCCCACTCTGCAGCCTGGGCGTCTCCCATCGCTGCCCTGGTCACTCTGCCTAAAACTGAAATCAAGTCTCTTACTTGCCTTCTGTGTGCCAGGCACAAGTGACTTCCACAAGGACCTAAAAAGGCTGGGACTACATTGAGCCCCAGCGAGTGGCCCACCTGCTGGTAGCCCAGAGAGACTTGAAGTCACGAGGCCAGAAGGGATGCAGCTTTGAGCTCTGATTCTGTCCTCTGGATTTCTTGGAGGGGCCCCCACTGCGGGGAGGGCCCAAGGGTCTCCTAGACATACCTCGGAGGGACTGCGGCTCTGCAGAGGGGCCTCTCCGTCAAAGCAGATCTCCAGGAGGGTGGCGCCAAACCCCCACTTGTCCATGGCGGTGCTTAGGCTGTTGGCCCCACCTGGTAGGCATTCGGGGGCCAGCCAGGGGATCCTCTCCACCCGCTCTGGGAGGCCAAGGTCAGAGGTCACCAAGGGTGAAAGGAGCAGGGGAAGCCCCCCACTGTGCCCAGGTCCCCTCAGGTACTCACCCTCCCTGGAGAGGGCGCCCAGGCCCACGCCAGGATCACTCAGCTTGATGAAGGGGCTGGTGCCCTCTGCCAACCCCAGCCGGGCCAGCAGGATGTTCCGGCCACACACATTACCATGAACCAGGTTCTTGTTCTCCTGAGGTGGGCAGGAGAGGGGGTGTGGCCACTCAGGAGAGGCACAGACGCCAACCCCAAACCTGGTCCCCATAGGGACAGCCAATGTGAAAAGGACAACTGTGACTATCACTGGGTTTCTTTCTGTTTTGTTTTTTGGGGGGTTATTTTTTTCTTGTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCTCTCAGGTTGGAGTATAGTGGCACGAACATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCCTTCCAAGTAGCGAGAATTACAGGTGCACATCACCACAGCCTAGCTGATTCTTAAATTTTTGGTGGAGATGGGGTCTAGCTATGCTGCTGCCCAGGCTGGGGTGCAGTGGTGTGATCATAGCTTACTACGGCCTCAAATTCCTGAGCTCAGGTGATCCTCCCACCTCAACTTCCTGAGTACCTCGGCCTACAGGTGCAAGTTACCACATTGGCTAATTTTTTTTGTATTTTTAGTAGAGGCAAGGTTTTGCCATACTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAACTGCTGGGATTACAGGTATGAGCCACCACACCTGGCTATTTGTTTATTTTTAAAAGATGGGGCCAGCTGGGCGTGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGCAGGAGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATCATTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGTGACAGGGCGAAACTCCACCTAAAACAAAACAAACAAAAAAGATGGGGTCTCGCCCTGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCCTGGCCCTCCCTGACCGACCCAGGCCCCACACACAGGCCACACACCAGGTAGCTGAGGGCGCTGGCCAGCTGCTGGGCCACCACCATCTTCCAAGCCATGGGCACATGGCCCCGCTCCCTCCGCAGCCACACATCCAGGGGTCCGTGCTCCACGTACTCTGTCACCATGATATCTGTAAAGACACAGCTGCTCTGGGGCAACCTGCCTGCTTCTGCCCTCTGGATGGCGGGGAATTGGGGGAGACGCCAGGGAGGGACTTGGCATGTGGCTGGGGAGGTGTCAGGGCAGAGGTGTGGGTGGAGTTTGGTCTGGGTTGAAAGTGAGTTTGGGGAGAGAAGAAATGCGGAATGCAGCAGAGGCAGCGGTGGATGAGGGCATTGGGGTCCAAGTGGGATGGGGCACGGAAGAAGTTGAAGTTCAAGAGAGAAAGGTGGGCTGGGCGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGGGCAGCCTGCCCAACATGATGAAACTCCATCACTACTAAAAAAAAAAATACAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGTTCAGGAGTTCGAGACCAGCCTGGTCAATATGGTGAAACCCCAACTCTACTAAAAATACAAAAAAATTACAGTGAAACCCCATCTCTACTAAAAAGACAAAAAAATTAGCCAGGCATG 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TCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACCCAGGAGGCTGAGGCAGGACAATTACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAGAAAAAAGAGCATATTAATTTTTTAAAGAGAACAATACAAAACTTTTTTAAAAAGAAAAAAAAAACTGCAGTGGTCTAATTCTCTAATCCAAAGAAGTTGTGTCTCTCCCCAGACAAAACATTAAGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCTGAAGCAGATAGATCATTTGAGGTCTAGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCACCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACACGCTTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGTCACTGCGCTCCAGGCTGGGTGACAGAGCAAGATTCCATTGCAAATAAATAAATAAATACATTAATGAGAGCTCAGGGCAGCCAGGCAGGGCATGCTTATGAATGCCACTGCAAGAAATTGGCACACACCCTGAACCACTGTGCAGAGACCTCTCGTGCGCTATAGGCATACAGCAGGGATCCCAGCCCCGTCCCACTTCCCCAGGGTCCCAGCACTGGGATGGAGCTCACTGTGGGGCTGCAGCCGGGTGAGGTCACGCAGGATGGTGCGGAATGATGGCCTCTGGGTTGGCTCATAGGTCAGACACTGGCTGGTGAGTGTGGCCAGCTGTGGGCAGGAGGGCTCGGGCAGCCGGTGCTGCCTCTGGTAGAAATGCTCCTTCTGTTGGGAAAGGGACCCAGAGGAGTCAACATCCTCCCCTCGCCCCCAACCCGTTCCCCAAGAGGCAGAGTCAAGTCCCCAGAGTGGACCGCCAGGTGCCCGCTCTTATCAGTTCCATTATACAGATGAGGCAACTGAGGCTCCACAAAGTGGGAGGACGTGCTCACAGCCGTAGAACCAGGACTGGGACCCAGGTCCAGTGATTATGCAGAGCTGGAGTGTCACAGTCAGCCTCCTGCCCCAAGCTTCCCTCCTGCCCCTCCTGTAGACCACAGCTCCTTAATACACTGAAGCCTCAGCCTTTGCACAGGCCATGCACTCTGCCTAGGCTGCCCTTCCTAGCCAGGCTTGTTGGCATAATTCTACACTTAGATAAAACCTCTTCTGGGGCCGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATAATGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCGGGTGTGGTGGCATGTGCCTGTAATCCCCCCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTGGGCAATTAGAGTGGAACTTCGTCTCAAAATAAAACCACCACACTCATGAACCTCCTTTGGGAAGCCTTGTCTGACCCCACTGCTGGGTGAGGCGCATCCTCAGCCCTTCTTCCCCACTCTGCAGCCTGGGCGTCTCCCATCGCTGCCCTGGTCACTCTGCCTAAAACTGAAATCAAGTCTCTTACTTGCCTTCTGTGTGCCAGGCACAAGTGACTTCCACAAGGACCTAAAAAGGCTGGGACTACATTGAGCCCCAGCGAGTGGCCCACCTGCTGGTAGCCCAGAGAGACTTGAAGTCACGAGGCCAGAAGGGATGCAGCTTTGAGCTCTGATTCTGTCCTCTGGATTTCTTGGAGGGGCCCCCACTGCGGGGAGGGCCCAAGGGTCTCCTAGACATACCTCGGAGGGACTGCGGCTCTGCAGAGGGGCCTCTCCGTCAAAGCAGATCTCCAGGAGGGTGGCGCCAAACCTCCACTTGTCCATGGCGGTGCTTAGGCTGTTGGCCCCACCTGGTAGGCATTCGGGGGCCAGCCAGGGGATCCTCTCCACCCGCTCTGGGAGGCCAAGGTCAGAGGTCACCAAGGGTGAAAGGAGCAGGGGAAGCCCCCCACTGTGCCCAGGTCCCCTCAGGTACTCACCCTCCCTGGAGAGGGCGCCCAGGCCCACGCCAGGATCACTCAGCTTGATGAAGGGGCTGGTGCCCTCTGCCAACCCCAGCCGGGCCAGCAGGATGTTCCGGCCACACACATTACCATGAACCAGGTTCTTGTTCTCCTGAGGTGGGCAGGAGAGGGGGTGTGGCCACTCAGGAGAGGCACAGACGCCAACCCCAAACCTGGTCCCCATAGGGACAGCCAATGTGAAAAGGACAACTGTGACTATCACTGGGTTTCTTTCTGTTTTGTTTTTTGGGGGGTTATTTTTTTCTTGTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCTCTCAGGTTGGAGTATAGTGGCACGAACATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCCTTCCAAGTAGCGAGAATTACAGGTGCACATCACCACAGCCTAGCTGATTCTTAAATTTTTGGTGGAGATGGGGTCTAGCTATGCTGCTGCCCAGGCTGGGGTGCAGTGGTGTGATCATAGCTTACTACGGCCTCAAATTCCTGAGCTCAGGTGATCCTCCCACCTCAACTTCCTGAGTACCTCGGCCTACAGGTGCAAGTTACCACATTGGCTAATTTTTTTTGTATTTTTAGTAGAGGCAAGGTTTTGCCATACTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAACTGCTGGGATTACAGGTATGAGCCACCACACCTGGCTATTTGTTTATTTTTAAAAGATGGGGCCAGCTGGGCGTGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGCAGGAGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATCATTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGTGACAGGGCGAAACTCCACCTAAAACAAAACAAACAAAAAAGATGGGGTCTCGCCCTGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCCTGGCCCTCCCTGACCGACCCAGGCCCCACACACAGGCCACACACCAGGTAGCTGAGGGCGCTGGCCAGCTGCTGGGCCACCACCATCTTCCAAGCCATGGGCACATGGCCCCGCTCCCTCCGCAGCCACACATCCAGGGGTCCGTGCTCCACGTACTCTGTCACCATGATATCTGTAAAGACACAGCTGCTCTGGGGCAACCTGCCTGCTTCTGCCCTCTGGATGGCGGGGAATTGGGGGAGACGCCAGGGAGGGACTTGGCATGTGGCTGGGGAGGTGTCAGGGCAGAGGTGTGGGTGGAGTTTGGTCTGGGTTGAAAGTGAGTTTGGGGAGAGAAGAAATGCGGAATGCAGCAGAGGCAGCGGTGGATGAGGGCATTGGGGTCCAAGTGGGATGGGGCACGGAAGAAGTTGAAGTTCAAGAGAGAAAGGTGGGCTGGGCGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGGGCAGCCTGCCCAACATGATGAAACTCCATCACTACTAAAAAAAAAAATACAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGTTCAGGAGTTCGAGACCAGCCTGGTCAATATGGTGAAACCCCAACTCTACTAAAAATACAAAAAAATTACAGTGAAACCCCATCTCTACTAAAAAGACAAAAAAATTAGCCAGGCATG 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Task1_train_26409 | Chromosome 19 houses a mutation in gene TYK2 (tyrosine kinase 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Immunodeficiency 35 | AGAACAATACAAAACTTTTTTAAAAAGAAAAAAAAAACTGCAGTGGTCTAATTCTCTAATCCAAAGAAGTTGTGTCTCTCCCCAGACAAAACATTAAGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCTGAAGCAGATAGATCATTTGAGGTCTAGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCACCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACACGCTTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGTCACTGCGCTCCAGGCTGGGTGACAGAGCAAGATTCCATTGCAAATAAATAAATAAATACATTAATGAGAGCTCAGGGCAGCCAGGCAGGGCATGCTTATGAATGCCACTGCAAGAAATTGGCACACACCCTGAACCACTGTGCAGAGACCTCTCGTGCGCTATAGGCATACAGCAGGGATCCCAGCCCCGTCCCACTTCCCCAGGGTCCCAGCACTGGGATGGAGCTCACTGTGGGGCTGCAGCCGGGTGAGGTCACGCAGGATGGTGCGGAATGATGGCCTCTGGGTTGGCTCATAGGTCAGACACTGGCTGGTGAGTGTGGCCAGCTGTGGGCAGGAGGGCTCGGGCAGCCGGTGCTGCCTCTGGTAGAAATGCTCCTTCTGTTGGGAAAGGGACCCAGAGGAGTCAACATCCTCCCCTCGCCCCCAACCCGTTCCCCAAGAGGCAGAGTCAAGTCCCCAGAGTGGACCGCCAGGTGCCCGCTCTTATCAGTTCCATTATACAGATGAGGCAACTGAGGCTCCACAAAGTGGGAGGACGTGCTCACAGCCGTAGAACCAGGACTGGGACCCAGGTCCAGTGATTATGCAGAGCTGGAGTGTCACAGTCAGCCTCCTGCCCCAAGCTTCCCTCCTGCCCCTCCTGTAGACCACAGCTCCTTAATACACTGAAGCCTCAGCCTTTGCACAGGCCATGCACTCTGCCTAGGCTGCCCTTCCTAGCCAGGCTTGTTGGCATAATTCTACACTTAGATAAAACCTCTTCTGGGGCCGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATAATGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCGGGTGTGGTGGCATGTGCCTGTAATCCCCCCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTGGGCAATTAGAGTGGAACTTCGTCTCAAAATAAAACCACCACACTCATGAACCTCCTTTGGGAAGCCTTGTCTGACCCCACTGCTGGGTGAGGCGCATCCTCAGCCCTTCTTCCCCACTCTGCAGCCTGGGCGTCTCCCATCGCTGCCCTGGTCACTCTGCCTAAAACTGAAATCAAGTCTCTTACTTGCCTTCTGTGTGCCAGGCACAAGTGACTTCCACAAGGACCTAAAAAGGCTGGGACTACATTGAGCCCCAGCGAGTGGCCCACCTGCTGGTAGCCCAGAGAGACTTGAAGTCACGAGGCCAGAAGGGATGCAGCTTTGAGCTCTGATTCTGTCCTCTGGATTTCTTGGAGGGGCCCCCACTGCGGGGAGGGCCCAAGGGTCTCCTAGACATACCTCGGAGGGACTGCGGCTCTGCAGAGGGGCCTCTCCGTCAAAGCAGATCTCCAGGAGGGTGGCGCCAAACCCCCACTTGTCCATGGCGGTGCTTAGGCTGTTGGCCCCACCTGGTAGGCATTCGGGGGCCAGCCAGGGGATCCTCTCCACCCGCTCTGGGAGGCCAAGGTCAGAGGTCACCAAGGGTGAAAGGAGCAGGGGAAGCCCCCCACTGTGCCCAGGTCCCCTCAGGTACTCACCCTCCCTGGAGAGGGCGCCCAGGCCCACGCCAGGATCACTCAGCTTGATGAAGGGGCTGGTGCCCTCTGCCAACCCCAGCCGGGCCAGCAGGATGTTCCGGCCACACACATTACCATGAACCAGGTTCTTGTTCTCCTGAGGTGGGCAGGAGAGGGGGTGTGGCCACTCAGGAGAGGCACAGACGCCAACCCCAAACCTGGTCCCCATAGGGACAGCCAATGTGAAAAGGACAACTGTGACTATCACTGGGTTTCTTTCTGTTTTGTTTTTTGGGGGGTTATTTTTTTCTTGTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCTCTCAGGTTGGAGTATAGTGGCACGAACATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCCTTCCAAGTAGCGAGAATTACAGGTGCACATCACCACAGCCTAGCTGATTCTTAAATTTTTGGTGGAGATGGGGTCTAGCTATGCTGCTGCCCAGGCTGGGGTGCAGTGGTGTGATCATAGCTTACTACGGCCTCAAATTCCTGAGCTCAGGTGATCCTCCCACCTCAACTTCCTGAGTACCTCGGCCTACAGGTGCAAGTTACCACATTGGCTAATTTTTTTTGTATTTTTAGTAGAGGCAAGGTTTTGCCATACTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAACTGCTGGGATTACAGGTATGAGCCACCACACCTGGCTATTTGTTTATTTTTAAAAGATGGGGCCAGCTGGGCGTGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGCAGGAGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATCATTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGTGACAGGGCGAAACTCCACCTAAAACAAAACAAACAAAAAAGATGGGGTCTCGCCCTGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCCTGGCCCTCCCTGACCGACCCAGGCCCCACACACAGGCCACACACCAGGTAGCTGAGGGCGCTGGCCAGCTGCTGGGCCACCACCATCTTCCAAGCCATGGGCACATGGCCCCGCTCCCTCCGCAGCCACACATCCAGGGGTCCGTGCTCCACGTACTCTGTCACCATGATATCTGTAAAGACACAGCTGCTCTGGGGCAACCTGCCTGCTTCTGCCCTCTGGATGGCGGGGAATTGGGGGAGACGCCAGGGAGGGACTTGGCATGTGGCTGGGGAGGTGTCAGGGCAGAGGTGTGGGTGGAGTTTGGTCTGGGTTGAAAGTGAGTTTGGGGAGAGAAGAAATGCGGAATGCAGCAGAGGCAGCGGTGGATGAGGGCATTGGGGTCCAAGTGGGATGGGGCACGGAAGAAGTTGAAGTTCAAGAGAGAAAGGTGGGCTGGGCGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGGGCAGCCTGCCCAACATGATGAAACTCCATCACTACTAAAAAAAAAAATACAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGTTCAGGAGTTCGAGACCAGCCTGGTCAATATGGTGAAACCCCAACTCTACTAAAAATACAAAAAAATTACAGTGAAACCCCATCTCTACTAAAAAGACAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCGGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATGGTGGGAGACGGAGCTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAGAGCAAGACTCCATCTCAAAAAGAAGAAAAAAAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAG 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AGAACAATACAAAACTTTTTTAAAAAGAAAAAAAAAACTGCAGTGGTCTAATTCTCTAATCCAAAGAAGTTGTGTCTCTCCCCAGACAAAACATTAAGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCTGAAGCAGATAGATCATTTGAGGTCTAGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCACCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACACGCTTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGTCACTGCGCTCCAGGCTGGGTGACAGAGCAAGATTCCATTGCAAATAAATAAATAAATACATTAATGAGAGCTCAGGGCAGCCAGGCAGGGCATGCTTATGAATGCCACTGCAAGAAATTGGCACACACCCTGAACCACTGTGCAGAGACCTCTCGTGCGCTATAGGCATACAGCAGGGATCCCAGCCCCGTCCCACTTCCCCAGGGTCCCAGCACTGGGATGGAGCTCACTGTGGGGCTGCAGCCGGGTGAGGTCACGCAGGATGGTGCGGAATGATGGCCTCTGGGTTGGCTCATAGGTCAGACACTGGCTGGTGAGTGTGGCCAGCTGTGGGCAGGAGGGCTCGGGCAGCCGGTGCTGCCTCTGGTAGAAATGCTCCTTCTGTTGGGAAAGGGACCCAGAGGAGTCAACATCCTCCCCTCGCCCCCAACCCGTTCCCCAAGAGGCAGAGTCAAGTCCCCAGAGTGGACCGCCAGGTGCCCGCTCTTATCAGTTCCATTATACAGATGAGGCAACTGAGGCTCCACAAAGTGGGAGGACGTGCTCACAGCCGTAGAACCAGGACTGGGACCCAGGTCCAGTGATTATGCAGAGCTGGAGTGTCACAGTCAGCCTCCTGCCCCAAGCTTCCCTCCTGCCCCTCCTGTAGACCACAGCTCCTTAATACACTGAAGCCTCAGCCTTTGCACAGGCCATGCACTCTGCCTAGGCTGCCCTTCCTAGCCAGGCTTGTTGGCATAATTCTACACTTAGATAAAACCTCTTCTGGGGCCGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATAATGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCGGGTGTGGTGGCATGTGCCTGTAATCCCCCCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTGGGCAATTAGAGTGGAACTTCGTCTCAAAATAAAACCACCACACTCATGAACCTCCTTTGGGAAGCCTTGTCTGACCCCACTGCTGGGTGAGGCGCATCCTCAGCCCTTCTTCCCCACTCTGCAGCCTGGGCGTCTCCCATCGCTGCCCTGGTCACTCTGCCTAAAACTGAAATCAAGTCTCTTACTTGCCTTCTGTGTGCCAGGCACAAGTGACTTCCACAAGGACCTAAAAAGGCTGGGACTACATTGAGCCCCAGCGAGTGGCCCACCTGCTGGTAGCCCAGAGAGACTTGAAGTCACGAGGCCAGAAGGGATGCAGCTTTGAGCTCTGATTCTGTCCTCTGGATTTCTTGGAGGGGCCCCCACTGCGGGGAGGGCCCAAGGGTCTCCTAGACATACCTCGGAGGGACTGCGGCTCTGCAGAGGGGCCTCTCCGTCAAAGCAGATCTCCAGGAGGGTGGCGCCAAACCCCCACTTGTCCATGGCGGTGCTTAGGCTGTTGGCCCCACCTGGTAGGCATTCGGGGGCCAGCCAGGGGATCCTCTCCACCCGCTCTGGGAGGCCAAGGTCAGAGGTCACCAAGGGTGAAAGGAGCAGGGGAAGCCCCCCACTGTGCCCAGGTCCCCTCAGGTACTCACCCTCCCTGGAGAGGGCGCCCAGGCCCACGCCAGGATCACTCACCTTGATGAAGGGGCTGGTGCCCTCTGCCAACCCCAGCCGGGCCAGCAGGATGTTCCGGCCACACACATTACCATGAACCAGGTTCTTGTTCTCCTGAGGTGGGCAGGAGAGGGGGTGTGGCCACTCAGGAGAGGCACAGACGCCAACCCCAAACCTGGTCCCCATAGGGACAGCCAATGTGAAAAGGACAACTGTGACTATCACTGGGTTTCTTTCTGTTTTGTTTTTTGGGGGGTTATTTTTTTCTTGTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCTCTCAGGTTGGAGTATAGTGGCACGAACATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCCTTCCAAGTAGCGAGAATTACAGGTGCACATCACCACAGCCTAGCTGATTCTTAAATTTTTGGTGGAGATGGGGTCTAGCTATGCTGCTGCCCAGGCTGGGGTGCAGTGGTGTGATCATAGCTTACTACGGCCTCAAATTCCTGAGCTCAGGTGATCCTCCCACCTCAACTTCCTGAGTACCTCGGCCTACAGGTGCAAGTTACCACATTGGCTAATTTTTTTTGTATTTTTAGTAGAGGCAAGGTTTTGCCATACTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAACTGCTGGGATTACAGGTATGAGCCACCACACCTGGCTATTTGTTTATTTTTAAAAGATGGGGCCAGCTGGGCGTGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGCAGGAGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATCATTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGTGACAGGGCGAAACTCCACCTAAAACAAAACAAACAAAAAAGATGGGGTCTCGCCCTGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCCTGGCCCTCCCTGACCGACCCAGGCCCCACACACAGGCCACACACCAGGTAGCTGAGGGCGCTGGCCAGCTGCTGGGCCACCACCATCTTCCAAGCCATGGGCACATGGCCCCGCTCCCTCCGCAGCCACACATCCAGGGGTCCGTGCTCCACGTACTCTGTCACCATGATATCTGTAAAGACACAGCTGCTCTGGGGCAACCTGCCTGCTTCTGCCCTCTGGATGGCGGGGAATTGGGGGAGACGCCAGGGAGGGACTTGGCATGTGGCTGGGGAGGTGTCAGGGCAGAGGTGTGGGTGGAGTTTGGTCTGGGTTGAAAGTGAGTTTGGGGAGAGAAGAAATGCGGAATGCAGCAGAGGCAGCGGTGGATGAGGGCATTGGGGTCCAAGTGGGATGGGGCACGGAAGAAGTTGAAGTTCAAGAGAGAAAGGTGGGCTGGGCGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGGGCAGCCTGCCCAACATGATGAAACTCCATCACTACTAAAAAAAAAAATACAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGTTCAGGAGTTCGAGACCAGCCTGGTCAATATGGTGAAACCCCAACTCTACTAAAAATACAAAAAAATTACAGTGAAACCCCATCTCTACTAAAAAGACAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCGGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATGGTGGGAGACGGAGCTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAGAGCAAGACTCCATCTCAAAAAGAAGAAAAAAAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAG 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Task1_train_26410 | A genomic change on Chromosome 19 affects ATG4D (autophagy related 4D cysteine peptidase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; ATG4D-related neurodevelopmental condition | ATGGGCCTGGGCCCCCCTGAGCTGTCAGGGTCAGCCTCTCCCAGCCGGTACCATGGGCCTGCCCGCTGGATGCCCCCACGCTGGGCCCAGGGTGCCCCTGAGCTGGAGCAGGAACGCCGGCACCGGCAGATTGTGTCCTGGTTCGCCGACCACCCCCGGGCCCCCTTTGGCCTACACCGGCTGGTGGAGCTTGGGCAGAGCTCAGGCAAGAAGGCAGGTGACTGGTATGGGCCATCGCTAGTGGCACACATCCTCAGGTGAGGGCTGCTGCAGGGATCACGGGAGTTGCTGGGTACCCGCAGGCACTCAGGCCTTCCCTCCTGCCCCCAGGAAAGCCGTGGAGAGCTGCTCCGACGTCACCCGCCTGGTGGTGTACGTTTCTCAGGACTGCACAGGTAAGGGGCTGGGAGCCAAGATCACAGGGGCCCCACCCTGAGCCAGACTCTGCCTTACCCGATTCTTAGAGTGCATCTTCCTCAGAGGCTGGAACAAGTTGTGGGGCAGAGGGACACTGGGGAAGGATGCAAGGCCTGTGCAGTGGGAGATAGTCCCTCTTCTCCGTCTCTCCCTCTGGAACAAGAAACTTCAGGGGCTTCTCCTTGAGTGATAGAATAGAGACATAAGGCCAGGTGTGGTGGCACATACTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGTTCGAGGTTACAGTGAGCTGTCATTATGCCATTGCACTCCAGCCTGGGCGACAGAGTAGGATCCTGTCGAAAAAAAAAAAAAAAAAAAAAAGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGTCACTCTGTCACCCAGGCTTCAGTGCAGAGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAATAGCTGGGATTACAGGCACGCACCACCATACCAGGCTAATTTTTCTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACAAGGCCGGTCTTGAACTCCTGACCTCAGGTGATTCGCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAAGCTTGAGCCACTGTGCCCAGCCCCTGTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCGAGTGATTCTCCTGCCTCAGCCTCCCAATAGCTGGGACTACAGGCGCGTGCCATCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGTTGGGGTTTCACTGTCTTTGCCAGTATGGTCTCTCGATCTCCTGACCTCATGATCCCCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCTGGAGCCACCGTGCCCGGCTACCTCTGTAAATTTTTTATGCAAAATTGTAGGTGTTTGGGAAAAGATTCGATTTTCAGAGAACCTTATCTCCAAAATGGGTCTAATCTACTTCTCTAGGAGCACAAAATGGGCTTACGTAGCTGCAAGGCAGGGGGCAGGAGAATGGGCCCAAGTAAATGGGACTGGAGGAGGAGGGACATACCAGGATATTTGGTTTAGGGGCTGAGTGCCCAGTGCTCCAGCTTCTGTATTGGCAAACCGAGGCATGGAGTCACTGAGGACCTGTCAGGCATGGGGCTGGGGAGGAGCTTGAGAGAACAGTCTCTACCTCTCCCTTCTGTATATACTTTTGGTCTACATCCCAGGGCCTCAGTTGCCCACTCTGTAAAATGGGGATGTCCACACCTGCCTGGAGGTCCTGGGATTTTCTGGGGGTGTTTGGGGGGCACTAGAATGATGATTTTGGTTAGTGATGACAGTGTTGCCCTCTGAGAAATTGCACGGTTGAGGTTGAGCCCCTGGGGTTAGAGGGCTACGCTGGGGCTTGAAGGGTGGCAAGAAGGTGACCTGCTGCTGTCCCGTCCCTCCAGTGTACAAGGCGGATGTGGCACGCCTGGTGGCCAGGCCAGACCCCACAGCCGAGTGGAAGTCTGTGGTCATCCTGGTGCCCGTGCGACTGGGTGGCGAGACTCTCAACCCCGTGTATGTGCCCTGCGTGAAGGTAGGTTCAGCTGAATTCTAGGACACCTCCACCTGGGAGCCCTCCAGACTTGTTTAGTTTGTGTTAGGGCTGCTGTTTGTGCAGCCCTCATCACTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGGTCAATAACGTGATCTCGGCTCGCTGCAACCTCCGCCTCCTGGGTTCAAGCGATTTTCTTGCCTCAGCCTCCCAAGTAGTTAGGATTACAGGCATGCGCCACCACGACCACCTAATTTTGTACTTTTAGTAGAGACAGGGTTTCACCATTTTGGTCAGGCTGATCTTGAACTCCTAACCTCAGGTCATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATAACAGGCGTGAGCCACCACACGGGCCATCCCTTTTTTTTTGAGACAGAGTCTTGCTCTTTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCATTGCAACCTCCGCCTCCCGAGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAGGTAGCTGGGACTACAGGCGTGTGCCACCACGCCCGGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCCATCCCTTCTTTTTTTATACTATGCAGCACCTGCTATGTGTGCTCCCCACTGTCCCGACTGCTGGGGATTCAGAGGGGAACAGAATAGGCAGGAGTTCTGAGTGTGCCTGCTGGGAGCAGACGTTCTGATGGGAGGATGCTCAGCAGTGGCTATGTAACCAAAGTAGCATCACTGTTTGGAATGAAGCCAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCATTTGAGACCAGTCTGGGCAACATAGTGAGACCCCCATCTCTACACAATTTTTTTTGAAAATATTCGAGTCTCACTCTCTTGCCCACGCTGGAGTGCAGTGACACCGTCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAAATTTCCTGCCTCAGCCACCCAAGTAGCTGGGATTACAGGTGTATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGCAGAGATGGGGTTTTCCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGCGTTGGGATTACAGGCATGAGCCACTGCACCCAGCCTCTACACAACTTTAAAAAAACAGTAACCCAATGAAGGGCAGATGAGGGTAGCAGCAGAGCCTAGAAAAGCGCCTCTGCAGCCACCAGGCAAATGAGGAGCCAGAGGAGAAGTGCTCCAGGCAAAAGGAACAGCAAGACAGAGACCCTGAGGCTGGAAAGTCCCCTATGTATTTGCATCCGAATAAAAGCCAGTTTTCCCAGTGACCCACAGAGCCCGGCACTATTTGTCCACACCACCTTCTTGATGTCGGGATATCCCCCACCTTGACCTCATATCCTCCTCCCACACTCTGCTGCAGCCACAGGGGCCTCCTCACCTATTTCAGACACTCCCACCTCAGGGCCTTTGCGCTTGCTGCCCCTGCTGCTTGGAGCACTCTTTCAGCAGTGATGCATGTGGCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGCTCCACCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTCCGCCACCACTCCTGGCTAATTTTTGTATTTTTAATGGAGATGGGGTTTCATTGTGTTAATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTC 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ATGGGCCTGGGCCCCCCTGAGCTGTCAGGGTCAGCCTCTCCCAGCCGGTACCATGGGCCTGCCCGCTGGATGCCCCCACGCTGGGCCCAGGGTGCCCCTGAGCTGGAGCAGGAACGCCGGCACCGGCAGATTGTGTCCTGGTTCGCCGACCACCCCCGGGCCCCCTTTGGCCTACACCGGCTGGTGGAGCTTGGGCAGAGCTCAGGCAAGAAGGCAGGTGACTGGTATGGGCCATCGCTAGTGGCACACATCCTCAGGTGAGGGCTGCTGCAGGGATCACGGGAGTTGCTGGGTACCCGCAGGCACTCAGGCCTTCCCTCCTGCCCCCAGGAAAGCCGTGGAGAGCTGCTCCGACGTCACCCGCCTGGTGGTGTACGTTTCTCAGGACTGCACAGGTAAGGGGCTGGGAGCCAAGATCACAGGGGCCCCACCCTGAGCCAGACTCTGCCTTACCCGATTCTTAGAGTGCATCTTCCTCAGAGGCTGGAACAAGTTGTGGGGCAGAGGGACACTGGGGAAGGATGCAAGGCCTGTGCAGTGGGAGATAGTCCCTCTTCTCCGTCTCTCCCTCTGGAACAAGAAACTTCAGGGGCTTCTCCTTGAGTGATAGAATAGAGACATAAGGCCAGGTGTGGTGGCACATACTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGTTCGAGGTTACAGTGAGCTGTCATTATGCCATTGCACTCCAGCCTGGGCGACAGAGTAGGATCCTGTCGAAAAAAAAAAAAAAAAAAAAAAGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGTCACTCTGTCACCCAGGCTTCAGTGCAGAGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAATAGCTGGGATTACAGGCACGCACCACCATACCAGGCTAATTTTTCTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACAAGGCCGGTCTTGAACTCCTGACCTCAGGTGATTCGCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAAGCTTGAGCCACTGTGCCCAGCCCCTGTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCGAGTGATTCTCCTGCCTCAGCCTCCCAATAGCTGGGACTACAGGCGCGTGCCATCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGTTGGGGTTTCACTGTCTTTGCCAGTATGGTCTCTCGATCTCCTGACCTCATGATCCCCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCTGGAGCCACCGTGCCCGGCTACCTCTGTAAATTTTTTATGCAAAATTGTAGGTGTTTGGGAAAAGATTCGATTTTCAGAGAACCTTATCTCCAAAATGGGTCTAATCTACTTCTCTAGGAGCACAAAATGGGCTTACGTAGCTGCAAGGCAGGGGGCAGGAGAATGGGCCCAAGTAAATGGGACTGGAGGAGGAGGGACATACCAGGATATTTGGTTTAGGGGCTGAGTGCCCAGTGCTCCAGCTTCTGTATTGGCAAACCGAGGCATGGAGTCACTGAGGACCTGTCAGGCATGGGGCTGGGGAGGAGCTTGAGAGAACAGTCTCTACCTCTCCCTTCTGTATATACTTTTGGTCTACATCCCAGGGCCTCAGTTGCCCACTCTGTAAAATGGGGATGTCCACACCTGCCTGGAGGTCCTGGGATTTTCTGGGGGTGTTTGGGGGGCACTAGAATGATGATTTTGGTTAGTGATGACAGTGTTGCCCTCTGAGAAATTGCACGGTTGAGGTTGAGCCCCTGGGGTTAGAGGGCTACGCTGGGGCTTGAAGGGTGGCAAGAAGGTGACCTGCTGCTGTCCCGTCCCTCCAGTGTGCAAGGCGGATGTGGCACGCCTGGTGGCCAGGCCAGACCCCACAGCCGAGTGGAAGTCTGTGGTCATCCTGGTGCCCGTGCGACTGGGTGGCGAGACTCTCAACCCCGTGTATGTGCCCTGCGTGAAGGTAGGTTCAGCTGAATTCTAGGACACCTCCACCTGGGAGCCCTCCAGACTTGTTTAGTTTGTGTTAGGGCTGCTGTTTGTGCAGCCCTCATCACTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGGTCAATAACGTGATCTCGGCTCGCTGCAACCTCCGCCTCCTGGGTTCAAGCGATTTTCTTGCCTCAGCCTCCCAAGTAGTTAGGATTACAGGCATGCGCCACCACGACCACCTAATTTTGTACTTTTAGTAGAGACAGGGTTTCACCATTTTGGTCAGGCTGATCTTGAACTCCTAACCTCAGGTCATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATAACAGGCGTGAGCCACCACACGGGCCATCCCTTTTTTTTTGAGACAGAGTCTTGCTCTTTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCATTGCAACCTCCGCCTCCCGAGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAGGTAGCTGGGACTACAGGCGTGTGCCACCACGCCCGGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCCATCCCTTCTTTTTTTATACTATGCAGCACCTGCTATGTGTGCTCCCCACTGTCCCGACTGCTGGGGATTCAGAGGGGAACAGAATAGGCAGGAGTTCTGAGTGTGCCTGCTGGGAGCAGACGTTCTGATGGGAGGATGCTCAGCAGTGGCTATGTAACCAAAGTAGCATCACTGTTTGGAATGAAGCCAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCATTTGAGACCAGTCTGGGCAACATAGTGAGACCCCCATCTCTACACAATTTTTTTTGAAAATATTCGAGTCTCACTCTCTTGCCCACGCTGGAGTGCAGTGACACCGTCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAAATTTCCTGCCTCAGCCACCCAAGTAGCTGGGATTACAGGTGTATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGCAGAGATGGGGTTTTCCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGCGTTGGGATTACAGGCATGAGCCACTGCACCCAGCCTCTACACAACTTTAAAAAAACAGTAACCCAATGAAGGGCAGATGAGGGTAGCAGCAGAGCCTAGAAAAGCGCCTCTGCAGCCACCAGGCAAATGAGGAGCCAGAGGAGAAGTGCTCCAGGCAAAAGGAACAGCAAGACAGAGACCCTGAGGCTGGAAAGTCCCCTATGTATTTGCATCCGAATAAAAGCCAGTTTTCCCAGTGACCCACAGAGCCCGGCACTATTTGTCCACACCACCTTCTTGATGTCGGGATATCCCCCACCTTGACCTCATATCCTCCTCCCACACTCTGCTGCAGCCACAGGGGCCTCCTCACCTATTTCAGACACTCCCACCTCAGGGCCTTTGCGCTTGCTGCCCCTGCTGCTTGGAGCACTCTTTCAGCAGTGATGCATGTGGCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGCTCCACCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTCCGCCACCACTCCTGGCTAATTTTTGTATTTTTAATGGAGATGGGGTTTCATTGTGTTAATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTC 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Task1_train_26411 | This alteration occurs within gene ATG4D (autophagy related 4D cysteine peptidase) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; ASHER | TTTTTGAAAATATTCGAGTCTCACTCTCTTGCCCACGCTGGAGTGCAGTGACACCGTCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAAATTTCCTGCCTCAGCCACCCAAGTAGCTGGGATTACAGGTGTATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGCAGAGATGGGGTTTTCCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGCGTTGGGATTACAGGCATGAGCCACTGCACCCAGCCTCTACACAACTTTAAAAAAACAGTAACCCAATGAAGGGCAGATGAGGGTAGCAGCAGAGCCTAGAAAAGCGCCTCTGCAGCCACCAGGCAAATGAGGAGCCAGAGGAGAAGTGCTCCAGGCAAAAGGAACAGCAAGACAGAGACCCTGAGGCTGGAAAGTCCCCTATGTATTTGCATCCGAATAAAAGCCAGTTTTCCCAGTGACCCACAGAGCCCGGCACTATTTGTCCACACCACCTTCTTGATGTCGGGATATCCCCCACCTTGACCTCATATCCTCCTCCCACACTCTGCTGCAGCCACAGGGGCCTCCTCACCTATTTCAGACACTCCCACCTCAGGGCCTTTGCGCTTGCTGCCCCTGCTGCTTGGAGCACTCTTTCAGCAGTGATGCATGTGGCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGCTCCACCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTCCGCCACCACTCCTGGCTAATTTTTGTATTTTTAATGGAGATGGGGTTTCATTGTGTTAATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCTTCGGCCTCCCAAAGTACTGAGATTATGGACATGAGCCACTGCTTGGCTCCTGTTTTAAAATATTTTTTGCGTGGGGGGTTTTCCAGTGAGAACCAGAAAACCTGAGACAAATTCTAAAAGAGCTGTAATGTTTGACCTCTTTACTTAAAATCACAAGGCTCCCTTCCCTCTTTTATTCTTTTCCATATAGTTATCACCTCTAACACATGAGATAAATCATGTAATTGGCTGGGCGTGGTGGCCCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGTGGATCACCTGAGGTCAGGAGTCCAAGACCAGTCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGATGGAGGTTTCGGTGAGCCAAGATCGTGCTACTGCACTCCAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGACGGGCAGATCACCTGAGGTTAGGAGGAGTTCCAGACCAGCCTGGCTAACATGGTGAAACCCCATTTTTACTAAAAATACAAAAAATTAACCCGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTTGAGAAGCTGAGGCAGGAGAATCGCTTGAACTTAGGAGGCGGAGGTTGCGGTGAGCCAATTGGGCCACTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATTCATGTAATCATCTTCCTTGTTAGTCTCTCACACTAGGATGTCAGCTCCTGAGGGCAAGGGTTTTGTGGTCTTGATCACTGCTGCCCTCCAGAGGCTGGGTTCTCACAGAGGAGGTGTTTGCCAAGCGTTTGTTGAGTGGCTGCCTGACAGCACCTGCCTACCCTCCTCCCTGCAGGAACTCCTGCGTTGCGAGCTGTGCCTGGGCATCATGGGTGGGAAACCGCGACACTCACTGTACTTCATTGGCTACCAAGGTAGGCCCACCCCCTCCTCACTCCTCCCACCCCCCACCGCACCCCCACTCACACCTGCACCCCCTGCAGATGACTTCCTGCTGTACCTGGACCCTCACTACTGCCAGCCCACTGTGGATGTCAGCCAGGCCGACTTCCCCCTGGAGGTGAGTGGGAGCCCCAGTGTGTGGTTGGGGCCATGGCGGGTGGGCAGCCCAGCCTCTGAGCCTTCCTCGTCTGTCTGCCCCAGTCCTTCCACTGCACCTCGCCCCGCAAGATGGCCTTTGCCAAGATGGACCCAAGCTGTACCGTGGGCTTCTATGCTGGAGACAGGAAGGAGTTTGAGACACTCTGCTCAGAGCTGACCAGGGTGAGCAAGAGGAAAGCTGGAGTGGGGTGAGGGGGGCGGTTGGGCAGGGCTGGGGGTGAAAGAGGAACAGAGGCCTCGAGTCCAGCAGAGCTGGGGTGCTGCTTCCAGGCTAGGGGTCCTAACCTGGGAAATGTGAAGAATGTCCACCCCTGAAAAGGTGGGAACGCCAAAGCCCACTGTTAAGGCATCATCCCTTGGAGGCAGCTGTATCCAGGGGCTCAAGTGGTGGGAACCCTCCCTGTCTCTTGGCCCTGCTGTCCGACCAGGACTCTACCCTTATGGGGGCGAGAGATGGCCACCAGCCATTCTGGGCACCCACCCTGTGGTCACTGGAAGGGAAACGCAGGTTTTGCAGCAAAAATCCCAGGACTGTCAGTCTTTGGCTGAGCTGGGTCACATGCTCATGGCTGAGCCAATCACTGTGGCCAGGGGATGGAAGGTGCTGATTGGCTGCTCTCTCCTGGAGAGGTGGTCCTGAGAAGCACCTACTAAATAAACCTGGGCTAAGGAATATGGCTTGGCACTGTTTGTGGCTGACCCTGTCTCCCTCTTCCCGCCAGGTCCTCAGCTCCTCCTCAGCCACAGAGCGGTACCCCATGTTCACCCTGGCCGAGGGCCATGCTCAGGACCACAGCCTGGACGACCTCTGCTCCCAGCTCGCCCAGCCCACACTCCGGCTCCCTCGCACAGGGCGGCTCCTCAGGGCCAAACGCCCCAGCTCTGAGGACTTTGTGTTTTTATAAAGGGAGGGGATGAGGGGAAAGATACAACACTATTTATTTTTTTATTTATGTCATGTCGGGTGTGGGATCTTGAGCTCTGGCAGTGATGATGGTACTTCCTGTTGTCAGCCCCTCAAGCCCAGCTGCAACCAGTCTGGGGCCATTCAGCCAGGGACAGAGCCCACAGAGCCCATACACCTGTCTCCCACCAGCGGGGCCCTCCTGGCAGGGTAGGGAAGGAGGACCCCGGGCACCCCCCTCAGGGCCTGACTCACGTACTGTAGTTTGCACTGGACGCCCGGGCCCTCCCTGTCCCAAAGCCCCCTTGGGGGAACTGTGGCTGCTGGGGGCCAATAAAGCTGTGTAACTTGATCGTGGGTGTGGCTGGGCGCAGCGTTCTGAGGGGATGTGGGGTCTGGGAGGTGTCTCGAGGTGAGAGCTCCAAGTCACGGGAAGTTTAAGTCAGCCTCAGTTTCCACATCCATAAAATGGGACGACTTCCTTACCCACAGCTACACGTGTTTTTTAATTTTTTTTTTTTTTTCAAGAGACAGGGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCATAGCTCTCTGTAGCCTCAAACTCATGGCCTTAAGTGATCTTCCTTCCCCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGTCACCACATTTTGTAGAGATGGAGTCTCGCTAAGTTGCCCACGCTGGTCTCCAATTCCTGGGCTCAAGTGATCCTTTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCCTGGCCACAGATGAGAGGATCTCTGCAGCAGATAGTACTTGTGGGTGCGAGACCTGTCCAGGGCTTGATTTGAGGAGAGGAGCCTGAGGCCCCTGCCTGCTCCCTGGTGCTCAGGAGCTGTTCTTGGGCCCCTGTTGTTTCCTCCGCTGCCGGCCCAGCTGGCGGAAGTGCAGCCGTTTGGGGTTGAGGCCAAAGGCCTGCAGTCTCTGGCGGCTGAACTCGCATCCACCAAGCATCACAGTGGGGCCCAGCAGCCGTGCCTTCTTGGCCCT 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TTTTTGAAAATATTCGAGTCTCACTCTCTTGCCCACGCTGGAGTGCAGTGACACCGTCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAAATTTCCTGCCTCAGCCACCCAAGTAGCTGGGATTACAGGTGTATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGCAGAGATGGGGTTTTCCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGCGTTGGGATTACAGGCATGAGCCACTGCACCCAGCCTCTACACAACTTTAAAAAAACAGTAACCCAATGAAGGGCAGATGAGGGTAGCAGCAGAGCCTAGAAAAGCGCCTCTGCAGCCACCAGGCAAATGAGGAGCCAGAGGAGAAGTGCTCCAGGCAAAAGGAACAGCAAGACAGAGACCCTGAGGCTGGAAAGTCCCCTATGTATTTGCATCCGAATAAAAGCCAGTTTTCCCAGTGACCCACAGAGCCCGGCACTATTTGTCCACACCACCTTCTTGATGTCGGGATATCCCCCACCTTGACCTCATATCCTCCTCCCACACTCTGCTGCAGCCACAGGGGCCTCCTCACCTATTTCAGACACTCCCACCTCAGGGCCTTTGCGCTTGCTGCCCCTGCTGCTTGGAGCACTCTTTCAGCAGTGATGCATGTGGCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGCTCCACCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTCCGCCACCACTCCTGGCTAATTTTTGTATTTTTAATGGAGATGGGGTTTCATTGTGTTAATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCTTCGGCCTCCCAAAGTACTGAGATTATGGACATGAGCCACTGCTTGGCTCCTGTTTTAAAATATTTTTTGCGTGGGGGGTTTTCCAGTGAGAACCAGAAAACCTGAGACAAATTCTAAAAGAGCTGTAATGTTTGACCTCTTTACTTAAAATCACAAGGCTCCCTTCCCTCTTTTATTCTTTTCCATATAGTTATCACCTCTAACACATGAGATAAATCATGTAATTGGCTGGGCGTGGTGGCCCACGCCTGTAATCCCAGCACTTTGGGAGGCAGGTGGATCACCTGAGGTCAGGAGTCCAAGACCAGTCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGATGGAGGTTTCGGTGAGCCAAGATCGTGCTACTGCACTCCAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGACGGGCAGATCACCTGAGGTTAGGAGGAGTTCCAGACCAGCCTGGCTAACATGGTGAAACCCCATTTTTACTAAAAATACAAAAAATTAACCCGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTTGAGAAGCTGAGGCAGGAGAATCGCTTGAACTTAGGAGGCGGAGGTTGCGGTGAGCCAATTGGGCCACTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATTCATGTAATCATCTTCCTTGTTAGTCTCTCACACTAGGATGTCAGCTCCTGAGGGCAAGGGTTTTGTGGTCTTGATCACTGCTGCCCTCCAGAGGCTGGGTTCTCACAGAGGAGGTGTTTGCCAAGCGTTTGTTGAGTGGCTGCCTGACAGCACCTGCCTACCCTCCTCCCTGCAGGAACTCCTGCGTTGCGAGCTGTGCCTGGGCATCATGGGTGGGAAACCGCGACACTCACTGTACTTCATTGGCTACCAAGGTAGGCCCACCCCCTCCTCACTCCTCCCACCCCCCACCGCACCCCCACTCACACCTGCACCCCCTGCAGATGACTTCCTGCTGTACCTGAACCCTCACTACTGCCAGCCCACTGTGGATGTCAGCCAGGCCGACTTCCCCCTGGAGGTGAGTGGGAGCCCCAGTGTGTGGTTGGGGCCATGGCGGGTGGGCAGCCCAGCCTCTGAGCCTTCCTCGTCTGTCTGCCCCAGTCCTTCCACTGCACCTCGCCCCGCAAGATGGCCTTTGCCAAGATGGACCCAAGCTGTACCGTGGGCTTCTATGCTGGAGACAGGAAGGAGTTTGAGACACTCTGCTCAGAGCTGACCAGGGTGAGCAAGAGGAAAGCTGGAGTGGGGTGAGGGGGGCGGTTGGGCAGGGCTGGGGGTGAAAGAGGAACAGAGGCCTCGAGTCCAGCAGAGCTGGGGTGCTGCTTCCAGGCTAGGGGTCCTAACCTGGGAAATGTGAAGAATGTCCACCCCTGAAAAGGTGGGAACGCCAAAGCCCACTGTTAAGGCATCATCCCTTGGAGGCAGCTGTATCCAGGGGCTCAAGTGGTGGGAACCCTCCCTGTCTCTTGGCCCTGCTGTCCGACCAGGACTCTACCCTTATGGGGGCGAGAGATGGCCACCAGCCATTCTGGGCACCCACCCTGTGGTCACTGGAAGGGAAACGCAGGTTTTGCAGCAAAAATCCCAGGACTGTCAGTCTTTGGCTGAGCTGGGTCACATGCTCATGGCTGAGCCAATCACTGTGGCCAGGGGATGGAAGGTGCTGATTGGCTGCTCTCTCCTGGAGAGGTGGTCCTGAGAAGCACCTACTAAATAAACCTGGGCTAAGGAATATGGCTTGGCACTGTTTGTGGCTGACCCTGTCTCCCTCTTCCCGCCAGGTCCTCAGCTCCTCCTCAGCCACAGAGCGGTACCCCATGTTCACCCTGGCCGAGGGCCATGCTCAGGACCACAGCCTGGACGACCTCTGCTCCCAGCTCGCCCAGCCCACACTCCGGCTCCCTCGCACAGGGCGGCTCCTCAGGGCCAAACGCCCCAGCTCTGAGGACTTTGTGTTTTTATAAAGGGAGGGGATGAGGGGAAAGATACAACACTATTTATTTTTTTATTTATGTCATGTCGGGTGTGGGATCTTGAGCTCTGGCAGTGATGATGGTACTTCCTGTTGTCAGCCCCTCAAGCCCAGCTGCAACCAGTCTGGGGCCATTCAGCCAGGGACAGAGCCCACAGAGCCCATACACCTGTCTCCCACCAGCGGGGCCCTCCTGGCAGGGTAGGGAAGGAGGACCCCGGGCACCCCCCTCAGGGCCTGACTCACGTACTGTAGTTTGCACTGGACGCCCGGGCCCTCCCTGTCCCAAAGCCCCCTTGGGGGAACTGTGGCTGCTGGGGGCCAATAAAGCTGTGTAACTTGATCGTGGGTGTGGCTGGGCGCAGCGTTCTGAGGGGATGTGGGGTCTGGGAGGTGTCTCGAGGTGAGAGCTCCAAGTCACGGGAAGTTTAAGTCAGCCTCAGTTTCCACATCCATAAAATGGGACGACTTCCTTACCCACAGCTACACGTGTTTTTTAATTTTTTTTTTTTTTTCAAGAGACAGGGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCATAGCTCTCTGTAGCCTCAAACTCATGGCCTTAAGTGATCTTCCTTCCCCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGTCACCACATTTTGTAGAGATGGAGTCTCGCTAAGTTGCCCACGCTGGTCTCCAATTCCTGGGCTCAAGTGATCCTTTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCCTGGCCACAGATGAGAGGATCTCTGCAGCAGATAGTACTTGTGGGTGCGAGACCTGTCCAGGGCTTGATTTGAGGAGAGGAGCCTGAGGCCCCTGCCTGCTCCCTGGTGCTCAGGAGCTGTTCTTGGGCCCCTGTTGTTTCCTCCGCTGCCGGCCCAGCTGGCGGAAGTGCAGCCGTTTGGGGTTGAGGCCAAAGGCCTGCAGTCTCTGGCGGCTGAACTCGCATCCACCAAGCATCACAGTGGGGCCCAGCAGCCGTGCCTTCTTGGCCCT 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Task1_train_26412 | Given this variant in gene DNM2 (dynamin 2) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Centronuclear myopathy | CACAATTCAAATTCTCCATTCCAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGATTGAGAGACCAGCCTGGCCAACATGCCGAAACCCCATTTCTCCTAAAAGCACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTATTCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATCACTTGAACCCGGCAGGCGGAGGTTGCAGTAAGCTGAGATTGTCCCATTGCGCTCCAGCTTGGGCGACAGAGTGAGACTCCAGCTCAAAAAACAAAAAACAAAAAAAACAAATTCCCCATTCCAGGTGAAGCATTAACCTAGGCCTTTGTGTGTCTCCTGGAAGGAAATTAAATGTGCACACCCTTTACTTCATGTGAGGAAAGAGATTTTGGGGATCTGGGCAGCTTGTGCTTGCCTCTCCCAGTTGGGGTATGAAGGAGACCCCCCTTTCTTTGGCAGCCCAGCCTTGGTGGCCCTGACAGTGGTCACCATTTGAGCAGTTCCCCTTTAGGAGCAAGTCCCCAGGTACTTCAGTAGATCATGATTTTTGGGAGGGAAACTGATGAAGGGAGACAGCCCAGTACCCTAAGGAGAGCAATTAGGAATGCTTAGGAAAACTAAAACGTGAACAAGATCATCCTACTTTTTTACTATTCACGATGCCAATAGGCAATGCTGAGAGACTCTTTTTAAGGGCCAGGCCCGTTCTAAGGGGCGACACATGTTATTACCACTTTTTGTCCATTAGATGAGCAATTGTTTACCAACAAAAATTTTCTTTCTTTTTTTTCTTCTTTTTTTGAGACAGGGTCTTACTCTGTCTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAGCCTCCGCCACCCAGATTCAAGCGGTTCTCCTGCCTCAGCCTCCCGATTAACTGGGACTAGAAACGTGCACCACCACACCCAGCTCGTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGTCCAGGCTAATCTCAAACTCCTGGGCTCAGGTGATCTGCCTACCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGTCCAGTATATATATATATTTTTTAATAAAATGTGGTCTCACTGTGTTGCCCAGGGTGGTCTCGAACTCCCAGACTAAAGCCATCCTCTCACCTCAGCATCCTAAAGTGCTAATATTGCAGGCATGAGCCACCGCACCCGGCCAATAAAACATTTTAACTTGTGTGAAACCAGGTGTCTTTGCAGAATTACCATTAGTGGCAGCATTTTTTCTTTTTTTGTGGGCACACAAAATAACAGTGCATTTTAGGATCAGTGACTTCTTGGAGGTAATGAGATCTAAAAACATCTTCAGTCTCCACGAAGGAGGTAGATGTTGTTACCCTCAACCCATTTTGTAGATGAGGAATCGGAGGCTCAGAGGGGCAAAGTCCTGTCCAAGGCCTCACATCCCATCGATGGGTCAGGACCAACCCCAGCAGGCTGGGAGGTGGCGGGAACCTATGGAAGCCACCTGAATTGTGGGGAAGTGGCTACCTTTCCTTCCCAGCATCCTGTAAATCAAGTTGAGCTTCAGGGCAGAGGTGCTGAGCTTTGACCCCTGAACTTCACTCCTGTCTTCTGCAAAGTGGGAGGAATAAGTGGGCCTTCTCAGATCGAATGGGTGAATAATCGGAACAGGCTTAGCTTGAGCCTGACTCGTAGCCAGCATTTGCCATTGGGAGCTCTTGAATTTGGTTTATTTGTCTTAATATAGACAGAAGACATTTTGCTGCTGAAAAATGGTAAAAGAACAGTAAACCCTGGCTTGACTTGGAACATCATTCCAGAGTAGTGTGGAAACCTCCGTTTTGATGCTTGCTTTTTCCTTTTCCTCATAGGATGGTCCAGCAGTTTGGGGTGGATTTTGAGAAGAGGATCGAGGGCTCAGGAGATCAGGTGGACACTCTGGAGCTCTCCGGGGGCGCCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTGGTGAAGGTAGTGCCCCCCGGGGCTGGGCCCTCCCGTCTCTGGTCAGGCACCCTCCTGCTGGCCTCAAGCCAGGCCTCCTCCCAGGCAATAAGGTCTCAAGCTCCTACCTCTAGGCCTGAACTTGTGGTGGGCAGGGTGTGGCCTGGATGAGGTGTCCCCATGGGCTTCCTTTTCTGACACTCAGCTTTGAGGTTTTGGGCAGAACAATATGAAAACCCCTGTGTTTTTCCTCTGACAAAAGCCAATATACATTCTTTGCAAAATACATAGAAAATACAGATAAATTTACATGAGAAGATGTCCCTAGCATGTCATTGAAGAAGGAAAAAATAGGCATTGGAGCCAGCATGTGCAACATAGCACTGAGCTGATATATACAACATCCTTATGTATGAAACTGAACATGGATGTCTGTCTACAAGTGTTTCTTTGTATTTGCAAGGATGTTTGCAAAAATGTCAGCCCTGGGTGCTAGGATTTGGGACTTCTTTTTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATTTGCTTGAAGTTTTATACTGTTTACAATGAGCACATAGCATTTTTTATTAAAAAAACAAACAGTTTTTTAAAATCAGAGGAGCAAGACCAAATGCAGTGGCTCACGCCTATAATCCGTGGGAGGCCAAGGGGGCCTGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGAATCACTTGAGCCCAGGAGGCAGAGGATGCAGCAATGAGCCAAGATGGCACCACCGCACTCCAGCCTCAGTGACAGAGCCAGACCCTATCTCAAAAAAAAACAAAAAAAACAAAAAGAAAGAAAAAAGAAAAAGCTGGGTGTGGTGGTGCATACTGATAGTCTGAAAAATCTAAGTTTACATGAATTTATATTCCCACCAATATGATGAGAGAGTTGGTGTCATGTCATGCTTTCTGAAACTGGGTTTTAATTAATTAATTTGTTTGTTTATTTTTATTTTTTTTGAGACAGGGTCTTGCTCTTTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCTTCGACCTTCCTGGGCTCGGATGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGCACCAGCCCACCTGGCCAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCCATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTATCTGGCCAGTTTTCAATTTTTTAAATAAAATTTTGACGAGTTAAATATTCTGCCTTGTGAATATAGCCACACGTGGGAGAGAACGTTCCCCAGATGCACGCCTGCCACGGGGGCGCCCCGGGTGCCTCCATGCATGTGCTTGGTTTGTCTCTTCTCAGATGGAGTTTGACGAGAAGGACTTACGACGGGAGATCAGCTATGCCATTAAGAACATCCATGGAGTCAGGCAAGTTCCACGAGGAGAGTCACCACTGTTCCTTCCTCTCCGTGGTGCGACCCCCCAGCTAATTGGGTCACCCACACCTCTGAGTCCCTAATCGTTAGGCCTTAAGAGGGCTCTTGGATGGTTTTCTGTAGCTGCGAGCCCCTCCCTGAGGGTCTCCAAGGGCACATGAGGGTGGATGTGTCTTAGTCCTGCGTCCATTGCAGGCTTCAGGGCTGTCTGCAGCTCCTGATCAAATAGGGCTTAGTTCCTGCCCAGTCGGTTGGTGTGAACCTCATGCTAAACTAAGAATGCTCACTGCAGATTTGCCTGGGGAGGGGCGGGGCGGCACTGAATCAGGGTTTTGGGAAGCCAGCATGAGTCCCCATCATGGCTTCCTCGTGAGCCTCTTGGGTCCCCTCCTTATTCTAACAAAGGTAGTTGCTCCAGGTGTCTGCCCT 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CACAATTCAAATTCTCCATTCCAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGATTGAGAGACCAGCCTGGCCAACATGCCGAAACCCCATTTCTCCTAAAAGCACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTATTCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATCACTTGAACCCGGCAGGCGGAGGTTGCAGTAAGCTGAGATTGTCCCATTGCGCTCCAGCTTGGGCGACAGAGTGAGACTCCAGCTCAAAAAACAAAAAACAAAAAAAACAAATTCCCCATTCCAGGTGAAGCATTAACCTAGGCCTTTGTGTGTCTCCTGGAAGGAAATTAAATGTGCACACCCTTTACTTCATGTGAGGAAAGAGATTTTGGGGATCTGGGCAGCTTGTGCTTGCCTCTCCCAGTTGGGGTATGAAGGAGACCCCCCTTTCTTTGGCAGCCCAGCCTTGGTGGCCCTGACAGTGGTCACCATTTGAGCAGTTCCCCTTTAGGAGCAAGTCCCCAGGTACTTCAGTAGATCATGATTTTTGGGAGGGAAACTGATGAAGGGAGACAGCCCAGTACCCTAAGGAGAGCAATTAGGAATGCTTAGGAAAACTAAAACGTGAACAAGATCATCCTACTTTTTTACTATTCACGATGCCAATAGGCAATGCTGAGAGACTCTTTTTAAGGGCCAGGCCCGTTCTAAGGGGCGACACATGTTATTACCACTTTTTGTCCATTAGATGAGCAATTGTTTACCAACAAAAATTTTCTTTCTTTTTTTTCTTCTTTTTTTGAGACAGGGTCTTACTCTGTCTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAGCCTCCGCCACCCAGATTCAAGCGGTTCTCCTGCCTCAGCCTCCCGATTAACTGGGACTAGAAACGTGCACCACCACACCCAGCTCGTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGTCCAGGCTAATCTCAAACTCCTGGGCTCAGGTGATCTGCCTACCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGTCCAGTATATATATATATTTTTTAATAAAATGTGGTCTCACTGTGTTGCCCAGGGTGGTCTCGAACTCCCAGACTAAAGCCATCCTCTCACCTCAGCATCCTAAAGTGCTAATATTGCAGGCATGAGCCACCGCACCCGGCCAATAAAACATTTTAACTTGTGTGAAACCAGGTGTCTTTGCAGAATTACCATTAGTGGCAGCATTTTTTCTTTTTTTGTGGGCACACAAAATAACAGTGCATTTTAGGATCAGTGACTTCTTGGAGGTAATGAGATCTAAAAACATCTTCAGTCTCCACGAAGGAGGTAGATGTTGTTACCCTCAACCCATTTTGTAGATGAGGAATCGGAGGCTCAGAGGGGCAAAGTCCTGTCCAAGGCCTCACATCCCATCGATGGGTCAGGACCAACCCCAGCAGGCTGGGAGGTGGCGGGAACCTATGGAAGCCACCTGAATTGTGGGGAAGTGGCTACCTTTCCTTCCCAGCATCCTGTAAATCAAGTTGAGCTTCAGGGCAGAGGTGCTGAGCTTTGACCCCTGAACTTCACTCCTGTCTTCTGCAAAGTGGGAGGAATAAGTGGGCCTTCTCAGATCGAATGGGTGAATAATCGGAACAGGCTTAGCTTGAGCCTGACTCGTAGCCAGCATTTGCCATTGGGAGCTCTTGAATTTGGTTTATTTGTCTTAATATAGACAGAAGACATTTTGCTGCTGAAAAATGGTAAAAGAACAGTAAACCCTGGCTTGACTTGGAACATCATTCCAGAGTAGTGTGGAAACCTCCGTTTTGATGCTTGCTTTTTCCTTTTCCTCATAGGATGGTCCAGCAGTTTGGGGTGGATTTTGAGAAGAGGATCGAGGGCTCAGGAGATCAGGTGGACACTCTGGAGCTCTCCGGGGGCGCCCGAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAGCTGGTGAAGGTAGTGCCCCCCGGGGCTGGGCCCTCCCGTCTCTGGTCAGGCACCCTCCTGCTGGCCTCAAGCCAGGCCTCCTCCCAGGCAATAAGGTCTCAAGCTCCTACCTCTAGGCCTGAACTTGTGGTGGGCAGGGTGTGGCCTGGATGAGGTGTCCCCATGGGCTTCCTTTTCTGACACTCAGCTTTGAGGTTTTGGGCAGAACAATATGAAAACCCCTGTGTTTTTCCTCTGACAAAAGCCAATATACATTCTTTGCAAAATACATAGAAAATACAGATAAATTTACATGAGAAGATGTCCCTAGCATGTCATTGAAGAAGGAAAAAATAGGCATTGGAGCCAGCATGTGCAACATAGCACTGAGCTGATATATACAACATCCTTATGTATGAAACTGAACATGGATGTCTGTCTACAAGTGTTTCTTTGTATTTGCAAGGATGTTTGCAAAAATGTCAGCCCTGGGTGCTAGGATTTGGGACTTCTTTTTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATTTGCTTGAAGTTTTATACTGTTTACAATGAGCACATAGCATTTTTTATTAAAAAAACAAACAGTTTTTTAAAATCAGAGGAGCAAGACCAAATGCAGTGGCTCACGCCTATAATCCGTGGGAGGCCAAGGGGGCCTGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGAATCACTTGAGCCCAGGAGGCAGAGGATGCAGCAATGAGCCAAGATGGCACCACCGCACTCCAGCCTCAGTGACAGAGCCAGACCCTATCTCAAAAAAAAACAAAAAAAACAAAAAGAAAGAAAAAAGAAAAAGCTGGGTGTGGTGGTGCATACTGATAGTCTGAAAAATCTAAGTTTACATGAATTTATATTCCCACCAATATGATGAGAGAGTTGGTGTCATGTCATGCTTTCTGAAACTGGGTTTTAATTAATTAATTTGTTTGTTTATTTTTATTTTTTTTGAGACAGGGTCTTGCTCTTTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCTTCGACCTTCCTGGGCTCGGATGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGCACCAGCCCACCTGGCCAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCCATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTATCTGGCCAGTTTTCAATTTTTTAAATAAAATTTTGACGAGTTAAATATTCTGCCTTGTGAATATAGCCACACGTGGGAGAGAACGTTCCCCAGATGCACGCCTGCCACGGGGGCGCCCCGGGTGCCTCCATGCATGTGCTTGGTTTGTCTCTTCTCAGATGGAGTTTGACGAGAAGGACTTACGACGGGAGATCAGCTATGCCATTAAGAACATCCATGGAGTCAGGCAAGTTCCACGAGGAGAGTCACCACTGTTCCTTCCTCTCCGTGGTGCGACCCCCCAGCTAATTGGGTCACCCACACCTCTGAGTCCCTAATCGTTAGGCCTTAAGAGGGCTCTTGGATGGTTTTCTGTAGCTGCGAGCCCCTCCCTGAGGGTCTCCAAGGGCACATGAGGGTGGATGTGTCTTAGTCCTGCGTCCATTGCAGGCTTCAGGGCTGTCTGCAGCTCCTGATCAAATAGGGCTTAGTTCCTGCCCAGTCGGTTGGTGTGAACCTCATGCTAAACTAAGAATGCTCACTGCAGATTTGCCTGGGGAGGGGCGGGGCGGCACTGAATCAGGGTTTTGGGAAGCCAGCATGAGTCCCCATCATGGCTTCCTCGTGAGCCTCTTGGGTCCCCTCCTTATTCTAACAAAGGTAGTTGCTCCAGGTGTCTGCCCT 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Task1_train_26413 | A sequence alteration has been identified in DNM2 (dynamin 2) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Centronuclear myopathy | AATTCAAATTCTCCATTCCAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGATTGAGAGACCAGCCTGGCCAACATGCCGAAACCCCATTTCTCCTAAAAGCACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTATTCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATCACTTGAACCCGGCAGGCGGAGGTTGCAGTAAGCTGAGATTGTCCCATTGCGCTCCAGCTTGGGCGACAGAGTGAGACTCCAGCTCAAAAAACAAAAAACAAAAAAAACAAATTCCCCATTCCAGGTGAAGCATTAACCTAGGCCTTTGTGTGTCTCCTGGAAGGAAATTAAATGTGCACACCCTTTACTTCATGTGAGGAAAGAGATTTTGGGGATCTGGGCAGCTTGTGCTTGCCTCTCCCAGTTGGGGTATGAAGGAGACCCCCCTTTCTTTGGCAGCCCAGCCTTGGTGGCCCTGACAGTGGTCACCATTTGAGCAGTTCCCCTTTAGGAGCAAGTCCCCAGGTACTTCAGTAGATCATGATTTTTGGGAGGGAAACTGATGAAGGGAGACAGCCCAGTACCCTAAGGAGAGCAATTAGGAATGCTTAGGAAAACTAAAACGTGAACAAGATCATCCTACTTTTTTACTATTCACGATGCCAATAGGCAATGCTGAGAGACTCTTTTTAAGGGCCAGGCCCGTTCTAAGGGGCGACACATGTTATTACCACTTTTTGTCCATTAGATGAGCAATTGTTTACCAACAAAAATTTTCTTTCTTTTTTTTCTTCTTTTTTTGAGACAGGGTCTTACTCTGTCTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAGCCTCCGCCACCCAGATTCAAGCGGTTCTCCTGCCTCAGCCTCCCGATTAACTGGGACTAGAAACGTGCACCACCACACCCAGCTCGTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGTCCAGGCTAATCTCAAACTCCTGGGCTCAGGTGATCTGCCTACCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGTCCAGTATATATATATATTTTTTAATAAAATGTGGTCTCACTGTGTTGCCCAGGGTGGTCTCGAACTCCCAGACTAAAGCCATCCTCTCACCTCAGCATCCTAAAGTGCTAATATTGCAGGCATGAGCCACCGCACCCGGCCAATAAAACATTTTAACTTGTGTGAAACCAGGTGTCTTTGCAGAATTACCATTAGTGGCAGCATTTTTTCTTTTTTTGTGGGCACACAAAATAACAGTGCATTTTAGGATCAGTGACTTCTTGGAGGTAATGAGATCTAAAAACATCTTCAGTCTCCACGAAGGAGGTAGATGTTGTTACCCTCAACCCATTTTGTAGATGAGGAATCGGAGGCTCAGAGGGGCAAAGTCCTGTCCAAGGCCTCACATCCCATCGATGGGTCAGGACCAACCCCAGCAGGCTGGGAGGTGGCGGGAACCTATGGAAGCCACCTGAATTGTGGGGAAGTGGCTACCTTTCCTTCCCAGCATCCTGTAAATCAAGTTGAGCTTCAGGGCAGAGGTGCTGAGCTTTGACCCCTGAACTTCACTCCTGTCTTCTGCAAAGTGGGAGGAATAAGTGGGCCTTCTCAGATCGAATGGGTGAATAATCGGAACAGGCTTAGCTTGAGCCTGACTCGTAGCCAGCATTTGCCATTGGGAGCTCTTGAATTTGGTTTATTTGTCTTAATATAGACAGAAGACATTTTGCTGCTGAAAAATGGTAAAAGAACAGTAAACCCTGGCTTGACTTGGAACATCATTCCAGAGTAGTGTGGAAACCTCCGTTTTGATGCTTGCTTTTTCCTTTTCCTCATAGGATGGTCCAGCAGTTTGGGGTGGATTTTGAGAAGAGGATCGAGGGCTCAGGAGATCAGGTGGACACTCTGGAGCTCTCCGGGGGCGCCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTGGTGAAGGTAGTGCCCCCCGGGGCTGGGCCCTCCCGTCTCTGGTCAGGCACCCTCCTGCTGGCCTCAAGCCAGGCCTCCTCCCAGGCAATAAGGTCTCAAGCTCCTACCTCTAGGCCTGAACTTGTGGTGGGCAGGGTGTGGCCTGGATGAGGTGTCCCCATGGGCTTCCTTTTCTGACACTCAGCTTTGAGGTTTTGGGCAGAACAATATGAAAACCCCTGTGTTTTTCCTCTGACAAAAGCCAATATACATTCTTTGCAAAATACATAGAAAATACAGATAAATTTACATGAGAAGATGTCCCTAGCATGTCATTGAAGAAGGAAAAAATAGGCATTGGAGCCAGCATGTGCAACATAGCACTGAGCTGATATATACAACATCCTTATGTATGAAACTGAACATGGATGTCTGTCTACAAGTGTTTCTTTGTATTTGCAAGGATGTTTGCAAAAATGTCAGCCCTGGGTGCTAGGATTTGGGACTTCTTTTTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATTTGCTTGAAGTTTTATACTGTTTACAATGAGCACATAGCATTTTTTATTAAAAAAACAAACAGTTTTTTAAAATCAGAGGAGCAAGACCAAATGCAGTGGCTCACGCCTATAATCCGTGGGAGGCCAAGGGGGCCTGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGAATCACTTGAGCCCAGGAGGCAGAGGATGCAGCAATGAGCCAAGATGGCACCACCGCACTCCAGCCTCAGTGACAGAGCCAGACCCTATCTCAAAAAAAAACAAAAAAAACAAAAAGAAAGAAAAAAGAAAAAGCTGGGTGTGGTGGTGCATACTGATAGTCTGAAAAATCTAAGTTTACATGAATTTATATTCCCACCAATATGATGAGAGAGTTGGTGTCATGTCATGCTTTCTGAAACTGGGTTTTAATTAATTAATTTGTTTGTTTATTTTTATTTTTTTTGAGACAGGGTCTTGCTCTTTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCTTCGACCTTCCTGGGCTCGGATGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGCACCAGCCCACCTGGCCAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCCATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTATCTGGCCAGTTTTCAATTTTTTAAATAAAATTTTGACGAGTTAAATATTCTGCCTTGTGAATATAGCCACACGTGGGAGAGAACGTTCCCCAGATGCACGCCTGCCACGGGGGCGCCCCGGGTGCCTCCATGCATGTGCTTGGTTTGTCTCTTCTCAGATGGAGTTTGACGAGAAGGACTTACGACGGGAGATCAGCTATGCCATTAAGAACATCCATGGAGTCAGGCAAGTTCCACGAGGAGAGTCACCACTGTTCCTTCCTCTCCGTGGTGCGACCCCCCAGCTAATTGGGTCACCCACACCTCTGAGTCCCTAATCGTTAGGCCTTAAGAGGGCTCTTGGATGGTTTTCTGTAGCTGCGAGCCCCTCCCTGAGGGTCTCCAAGGGCACATGAGGGTGGATGTGTCTTAGTCCTGCGTCCATTGCAGGCTTCAGGGCTGTCTGCAGCTCCTGATCAAATAGGGCTTAGTTCCTGCCCAGTCGGTTGGTGTGAACCTCATGCTAAACTAAGAATGCTCACTGCAGATTTGCCTGGGGAGGGGCGGGGCGGCACTGAATCAGGGTTTTGGGAAGCCAGCATGAGTCCCCATCATGGCTTCCTCGTGAGCCTCTTGGGTCCCCTCCTTATTCTAACAAAGGTAGTTGCTCCAGGTGTCTGCCCTTCC 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AATTCAAATTCTCCATTCCAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGATTGAGAGACCAGCCTGGCCAACATGCCGAAACCCCATTTCTCCTAAAAGCACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTATTCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATCACTTGAACCCGGCAGGCGGAGGTTGCAGTAAGCTGAGATTGTCCCATTGCGCTCCAGCTTGGGCGACAGAGTGAGACTCCAGCTCAAAAAACAAAAAACAAAAAAAACAAATTCCCCATTCCAGGTGAAGCATTAACCTAGGCCTTTGTGTGTCTCCTGGAAGGAAATTAAATGTGCACACCCTTTACTTCATGTGAGGAAAGAGATTTTGGGGATCTGGGCAGCTTGTGCTTGCCTCTCCCAGTTGGGGTATGAAGGAGACCCCCCTTTCTTTGGCAGCCCAGCCTTGGTGGCCCTGACAGTGGTCACCATTTGAGCAGTTCCCCTTTAGGAGCAAGTCCCCAGGTACTTCAGTAGATCATGATTTTTGGGAGGGAAACTGATGAAGGGAGACAGCCCAGTACCCTAAGGAGAGCAATTAGGAATGCTTAGGAAAACTAAAACGTGAACAAGATCATCCTACTTTTTTACTATTCACGATGCCAATAGGCAATGCTGAGAGACTCTTTTTAAGGGCCAGGCCCGTTCTAAGGGGCGACACATGTTATTACCACTTTTTGTCCATTAGATGAGCAATTGTTTACCAACAAAAATTTTCTTTCTTTTTTTTCTTCTTTTTTTGAGACAGGGTCTTACTCTGTCTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAGCCTCCGCCACCCAGATTCAAGCGGTTCTCCTGCCTCAGCCTCCCGATTAACTGGGACTAGAAACGTGCACCACCACACCCAGCTCGTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGTCCAGGCTAATCTCAAACTCCTGGGCTCAGGTGATCTGCCTACCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGTCCAGTATATATATATATTTTTTAATAAAATGTGGTCTCACTGTGTTGCCCAGGGTGGTCTCGAACTCCCAGACTAAAGCCATCCTCTCACCTCAGCATCCTAAAGTGCTAATATTGCAGGCATGAGCCACCGCACCCGGCCAATAAAACATTTTAACTTGTGTGAAACCAGGTGTCTTTGCAGAATTACCATTAGTGGCAGCATTTTTTCTTTTTTTGTGGGCACACAAAATAACAGTGCATTTTAGGATCAGTGACTTCTTGGAGGTAATGAGATCTAAAAACATCTTCAGTCTCCACGAAGGAGGTAGATGTTGTTACCCTCAACCCATTTTGTAGATGAGGAATCGGAGGCTCAGAGGGGCAAAGTCCTGTCCAAGGCCTCACATCCCATCGATGGGTCAGGACCAACCCCAGCAGGCTGGGAGGTGGCGGGAACCTATGGAAGCCACCTGAATTGTGGGGAAGTGGCTACCTTTCCTTCCCAGCATCCTGTAAATCAAGTTGAGCTTCAGGGCAGAGGTGCTGAGCTTTGACCCCTGAACTTCACTCCTGTCTTCTGCAAAGTGGGAGGAATAAGTGGGCCTTCTCAGATCGAATGGGTGAATAATCGGAACAGGCTTAGCTTGAGCCTGACTCGTAGCCAGCATTTGCCATTGGGAGCTCTTGAATTTGGTTTATTTGTCTTAATATAGACAGAAGACATTTTGCTGCTGAAAAATGGTAAAAGAACAGTAAACCCTGGCTTGACTTGGAACATCATTCCAGAGTAGTGTGGAAACCTCCGTTTTGATGCTTGCTTTTTCCTTTTCCTCATAGGATGGTCCAGCAGTTTGGGGTGGATTTTGAGAAGAGGATCGAGGGCTCAGGAGATCAGGTGGACACTCTGGAGCTCTCCGGGGGCGCCCGAATCAATCGCATCTTCCACGAGTGGTTCCCATTTGAGCTGGTGAAGGTAGTGCCCCCCGGGGCTGGGCCCTCCCGTCTCTGGTCAGGCACCCTCCTGCTGGCCTCAAGCCAGGCCTCCTCCCAGGCAATAAGGTCTCAAGCTCCTACCTCTAGGCCTGAACTTGTGGTGGGCAGGGTGTGGCCTGGATGAGGTGTCCCCATGGGCTTCCTTTTCTGACACTCAGCTTTGAGGTTTTGGGCAGAACAATATGAAAACCCCTGTGTTTTTCCTCTGACAAAAGCCAATATACATTCTTTGCAAAATACATAGAAAATACAGATAAATTTACATGAGAAGATGTCCCTAGCATGTCATTGAAGAAGGAAAAAATAGGCATTGGAGCCAGCATGTGCAACATAGCACTGAGCTGATATATACAACATCCTTATGTATGAAACTGAACATGGATGTCTGTCTACAAGTGTTTCTTTGTATTTGCAAGGATGTTTGCAAAAATGTCAGCCCTGGGTGCTAGGATTTGGGACTTCTTTTTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATTTGCTTGAAGTTTTATACTGTTTACAATGAGCACATAGCATTTTTTATTAAAAAAACAAACAGTTTTTTAAAATCAGAGGAGCAAGACCAAATGCAGTGGCTCACGCCTATAATCCGTGGGAGGCCAAGGGGGCCTGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGAATCACTTGAGCCCAGGAGGCAGAGGATGCAGCAATGAGCCAAGATGGCACCACCGCACTCCAGCCTCAGTGACAGAGCCAGACCCTATCTCAAAAAAAAACAAAAAAAACAAAAAGAAAGAAAAAAGAAAAAGCTGGGTGTGGTGGTGCATACTGATAGTCTGAAAAATCTAAGTTTACATGAATTTATATTCCCACCAATATGATGAGAGAGTTGGTGTCATGTCATGCTTTCTGAAACTGGGTTTTAATTAATTAATTTGTTTGTTTATTTTTATTTTTTTTGAGACAGGGTCTTGCTCTTTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCTTCGACCTTCCTGGGCTCGGATGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGCACCAGCCCACCTGGCCAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCCATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTATCTGGCCAGTTTTCAATTTTTTAAATAAAATTTTGACGAGTTAAATATTCTGCCTTGTGAATATAGCCACACGTGGGAGAGAACGTTCCCCAGATGCACGCCTGCCACGGGGGCGCCCCGGGTGCCTCCATGCATGTGCTTGGTTTGTCTCTTCTCAGATGGAGTTTGACGAGAAGGACTTACGACGGGAGATCAGCTATGCCATTAAGAACATCCATGGAGTCAGGCAAGTTCCACGAGGAGAGTCACCACTGTTCCTTCCTCTCCGTGGTGCGACCCCCCAGCTAATTGGGTCACCCACACCTCTGAGTCCCTAATCGTTAGGCCTTAAGAGGGCTCTTGGATGGTTTTCTGTAGCTGCGAGCCCCTCCCTGAGGGTCTCCAAGGGCACATGAGGGTGGATGTGTCTTAGTCCTGCGTCCATTGCAGGCTTCAGGGCTGTCTGCAGCTCCTGATCAAATAGGGCTTAGTTCCTGCCCAGTCGGTTGGTGTGAACCTCATGCTAAACTAAGAATGCTCACTGCAGATTTGCCTGGGGAGGGGCGGGGCGGCACTGAATCAGGGTTTTGGGAAGCCAGCATGAGTCCCCATCATGGCTTCCTCGTGAGCCTCTTGGGTCCCCTCCTTATTCTAACAAAGGTAGTTGCTCCAGGTGTCTGCCCTTCC 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Task1_train_26414 | An alteration has been detected in DNM2 (dynamin 2) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Centronuclear myopathy | ATTCAAATTCTCCATTCCAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGATTGAGAGACCAGCCTGGCCAACATGCCGAAACCCCATTTCTCCTAAAAGCACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTATTCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATCACTTGAACCCGGCAGGCGGAGGTTGCAGTAAGCTGAGATTGTCCCATTGCGCTCCAGCTTGGGCGACAGAGTGAGACTCCAGCTCAAAAAACAAAAAACAAAAAAAACAAATTCCCCATTCCAGGTGAAGCATTAACCTAGGCCTTTGTGTGTCTCCTGGAAGGAAATTAAATGTGCACACCCTTTACTTCATGTGAGGAAAGAGATTTTGGGGATCTGGGCAGCTTGTGCTTGCCTCTCCCAGTTGGGGTATGAAGGAGACCCCCCTTTCTTTGGCAGCCCAGCCTTGGTGGCCCTGACAGTGGTCACCATTTGAGCAGTTCCCCTTTAGGAGCAAGTCCCCAGGTACTTCAGTAGATCATGATTTTTGGGAGGGAAACTGATGAAGGGAGACAGCCCAGTACCCTAAGGAGAGCAATTAGGAATGCTTAGGAAAACTAAAACGTGAACAAGATCATCCTACTTTTTTACTATTCACGATGCCAATAGGCAATGCTGAGAGACTCTTTTTAAGGGCCAGGCCCGTTCTAAGGGGCGACACATGTTATTACCACTTTTTGTCCATTAGATGAGCAATTGTTTACCAACAAAAATTTTCTTTCTTTTTTTTCTTCTTTTTTTGAGACAGGGTCTTACTCTGTCTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAGCCTCCGCCACCCAGATTCAAGCGGTTCTCCTGCCTCAGCCTCCCGATTAACTGGGACTAGAAACGTGCACCACCACACCCAGCTCGTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGTCCAGGCTAATCTCAAACTCCTGGGCTCAGGTGATCTGCCTACCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGTCCAGTATATATATATATTTTTTAATAAAATGTGGTCTCACTGTGTTGCCCAGGGTGGTCTCGAACTCCCAGACTAAAGCCATCCTCTCACCTCAGCATCCTAAAGTGCTAATATTGCAGGCATGAGCCACCGCACCCGGCCAATAAAACATTTTAACTTGTGTGAAACCAGGTGTCTTTGCAGAATTACCATTAGTGGCAGCATTTTTTCTTTTTTTGTGGGCACACAAAATAACAGTGCATTTTAGGATCAGTGACTTCTTGGAGGTAATGAGATCTAAAAACATCTTCAGTCTCCACGAAGGAGGTAGATGTTGTTACCCTCAACCCATTTTGTAGATGAGGAATCGGAGGCTCAGAGGGGCAAAGTCCTGTCCAAGGCCTCACATCCCATCGATGGGTCAGGACCAACCCCAGCAGGCTGGGAGGTGGCGGGAACCTATGGAAGCCACCTGAATTGTGGGGAAGTGGCTACCTTTCCTTCCCAGCATCCTGTAAATCAAGTTGAGCTTCAGGGCAGAGGTGCTGAGCTTTGACCCCTGAACTTCACTCCTGTCTTCTGCAAAGTGGGAGGAATAAGTGGGCCTTCTCAGATCGAATGGGTGAATAATCGGAACAGGCTTAGCTTGAGCCTGACTCGTAGCCAGCATTTGCCATTGGGAGCTCTTGAATTTGGTTTATTTGTCTTAATATAGACAGAAGACATTTTGCTGCTGAAAAATGGTAAAAGAACAGTAAACCCTGGCTTGACTTGGAACATCATTCCAGAGTAGTGTGGAAACCTCCGTTTTGATGCTTGCTTTTTCCTTTTCCTCATAGGATGGTCCAGCAGTTTGGGGTGGATTTTGAGAAGAGGATCGAGGGCTCAGGAGATCAGGTGGACACTCTGGAGCTCTCCGGGGGCGCCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTGGTGAAGGTAGTGCCCCCCGGGGCTGGGCCCTCCCGTCTCTGGTCAGGCACCCTCCTGCTGGCCTCAAGCCAGGCCTCCTCCCAGGCAATAAGGTCTCAAGCTCCTACCTCTAGGCCTGAACTTGTGGTGGGCAGGGTGTGGCCTGGATGAGGTGTCCCCATGGGCTTCCTTTTCTGACACTCAGCTTTGAGGTTTTGGGCAGAACAATATGAAAACCCCTGTGTTTTTCCTCTGACAAAAGCCAATATACATTCTTTGCAAAATACATAGAAAATACAGATAAATTTACATGAGAAGATGTCCCTAGCATGTCATTGAAGAAGGAAAAAATAGGCATTGGAGCCAGCATGTGCAACATAGCACTGAGCTGATATATACAACATCCTTATGTATGAAACTGAACATGGATGTCTGTCTACAAGTGTTTCTTTGTATTTGCAAGGATGTTTGCAAAAATGTCAGCCCTGGGTGCTAGGATTTGGGACTTCTTTTTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATTTGCTTGAAGTTTTATACTGTTTACAATGAGCACATAGCATTTTTTATTAAAAAAACAAACAGTTTTTTAAAATCAGAGGAGCAAGACCAAATGCAGTGGCTCACGCCTATAATCCGTGGGAGGCCAAGGGGGCCTGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGAATCACTTGAGCCCAGGAGGCAGAGGATGCAGCAATGAGCCAAGATGGCACCACCGCACTCCAGCCTCAGTGACAGAGCCAGACCCTATCTCAAAAAAAAACAAAAAAAACAAAAAGAAAGAAAAAAGAAAAAGCTGGGTGTGGTGGTGCATACTGATAGTCTGAAAAATCTAAGTTTACATGAATTTATATTCCCACCAATATGATGAGAGAGTTGGTGTCATGTCATGCTTTCTGAAACTGGGTTTTAATTAATTAATTTGTTTGTTTATTTTTATTTTTTTTGAGACAGGGTCTTGCTCTTTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCTTCGACCTTCCTGGGCTCGGATGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGCACCAGCCCACCTGGCCAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCCATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTATCTGGCCAGTTTTCAATTTTTTAAATAAAATTTTGACGAGTTAAATATTCTGCCTTGTGAATATAGCCACACGTGGGAGAGAACGTTCCCCAGATGCACGCCTGCCACGGGGGCGCCCCGGGTGCCTCCATGCATGTGCTTGGTTTGTCTCTTCTCAGATGGAGTTTGACGAGAAGGACTTACGACGGGAGATCAGCTATGCCATTAAGAACATCCATGGAGTCAGGCAAGTTCCACGAGGAGAGTCACCACTGTTCCTTCCTCTCCGTGGTGCGACCCCCCAGCTAATTGGGTCACCCACACCTCTGAGTCCCTAATCGTTAGGCCTTAAGAGGGCTCTTGGATGGTTTTCTGTAGCTGCGAGCCCCTCCCTGAGGGTCTCCAAGGGCACATGAGGGTGGATGTGTCTTAGTCCTGCGTCCATTGCAGGCTTCAGGGCTGTCTGCAGCTCCTGATCAAATAGGGCTTAGTTCCTGCCCAGTCGGTTGGTGTGAACCTCATGCTAAACTAAGAATGCTCACTGCAGATTTGCCTGGGGAGGGGCGGGGCGGCACTGAATCAGGGTTTTGGGAAGCCAGCATGAGTCCCCATCATGGCTTCCTCGTGAGCCTCTTGGGTCCCCTCCTTATTCTAACAAAGGTAGTTGCTCCAGGTGTCTGCCCTTCCA 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ATTCAAATTCTCCATTCCAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGATTGAGAGACCAGCCTGGCCAACATGCCGAAACCCCATTTCTCCTAAAAGCACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTATTCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATCACTTGAACCCGGCAGGCGGAGGTTGCAGTAAGCTGAGATTGTCCCATTGCGCTCCAGCTTGGGCGACAGAGTGAGACTCCAGCTCAAAAAACAAAAAACAAAAAAAACAAATTCCCCATTCCAGGTGAAGCATTAACCTAGGCCTTTGTGTGTCTCCTGGAAGGAAATTAAATGTGCACACCCTTTACTTCATGTGAGGAAAGAGATTTTGGGGATCTGGGCAGCTTGTGCTTGCCTCTCCCAGTTGGGGTATGAAGGAGACCCCCCTTTCTTTGGCAGCCCAGCCTTGGTGGCCCTGACAGTGGTCACCATTTGAGCAGTTCCCCTTTAGGAGCAAGTCCCCAGGTACTTCAGTAGATCATGATTTTTGGGAGGGAAACTGATGAAGGGAGACAGCCCAGTACCCTAAGGAGAGCAATTAGGAATGCTTAGGAAAACTAAAACGTGAACAAGATCATCCTACTTTTTTACTATTCACGATGCCAATAGGCAATGCTGAGAGACTCTTTTTAAGGGCCAGGCCCGTTCTAAGGGGCGACACATGTTATTACCACTTTTTGTCCATTAGATGAGCAATTGTTTACCAACAAAAATTTTCTTTCTTTTTTTTCTTCTTTTTTTGAGACAGGGTCTTACTCTGTCTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAGCCTCCGCCACCCAGATTCAAGCGGTTCTCCTGCCTCAGCCTCCCGATTAACTGGGACTAGAAACGTGCACCACCACACCCAGCTCGTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGTCCAGGCTAATCTCAAACTCCTGGGCTCAGGTGATCTGCCTACCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGTCCAGTATATATATATATTTTTTAATAAAATGTGGTCTCACTGTGTTGCCCAGGGTGGTCTCGAACTCCCAGACTAAAGCCATCCTCTCACCTCAGCATCCTAAAGTGCTAATATTGCAGGCATGAGCCACCGCACCCGGCCAATAAAACATTTTAACTTGTGTGAAACCAGGTGTCTTTGCAGAATTACCATTAGTGGCAGCATTTTTTCTTTTTTTGTGGGCACACAAAATAACAGTGCATTTTAGGATCAGTGACTTCTTGGAGGTAATGAGATCTAAAAACATCTTCAGTCTCCACGAAGGAGGTAGATGTTGTTACCCTCAACCCATTTTGTAGATGAGGAATCGGAGGCTCAGAGGGGCAAAGTCCTGTCCAAGGCCTCACATCCCATCGATGGGTCAGGACCAACCCCAGCAGGCTGGGAGGTGGCGGGAACCTATGGAAGCCACCTGAATTGTGGGGAAGTGGCTACCTTTCCTTCCCAGCATCCTGTAAATCAAGTTGAGCTTCAGGGCAGAGGTGCTGAGCTTTGACCCCTGAACTTCACTCCTGTCTTCTGCAAAGTGGGAGGAATAAGTGGGCCTTCTCAGATCGAATGGGTGAATAATCGGAACAGGCTTAGCTTGAGCCTGACTCGTAGCCAGCATTTGCCATTGGGAGCTCTTGAATTTGGTTTATTTGTCTTAATATAGACAGAAGACATTTTGCTGCTGAAAAATGGTAAAAGAACAGTAAACCCTGGCTTGACTTGGAACATCATTCCAGAGTAGTGTGGAAACCTCCGTTTTGATGCTTGCTTTTTCCTTTTCCTCATAGGATGGTCCAGCAGTTTGGGGTGGATTTTGAGAAGAGGATCGAGGGCTCAGGAGATCAGGTGGACACTCTGGAGCTCTCCGGGGGCGCCCGAATCAATCGCATCTTCCACGAGCAGTTCCCATTTGAGCTGGTGAAGGTAGTGCCCCCCGGGGCTGGGCCCTCCCGTCTCTGGTCAGGCACCCTCCTGCTGGCCTCAAGCCAGGCCTCCTCCCAGGCAATAAGGTCTCAAGCTCCTACCTCTAGGCCTGAACTTGTGGTGGGCAGGGTGTGGCCTGGATGAGGTGTCCCCATGGGCTTCCTTTTCTGACACTCAGCTTTGAGGTTTTGGGCAGAACAATATGAAAACCCCTGTGTTTTTCCTCTGACAAAAGCCAATATACATTCTTTGCAAAATACATAGAAAATACAGATAAATTTACATGAGAAGATGTCCCTAGCATGTCATTGAAGAAGGAAAAAATAGGCATTGGAGCCAGCATGTGCAACATAGCACTGAGCTGATATATACAACATCCTTATGTATGAAACTGAACATGGATGTCTGTCTACAAGTGTTTCTTTGTATTTGCAAGGATGTTTGCAAAAATGTCAGCCCTGGGTGCTAGGATTTGGGACTTCTTTTTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATTTGCTTGAAGTTTTATACTGTTTACAATGAGCACATAGCATTTTTTATTAAAAAAACAAACAGTTTTTTAAAATCAGAGGAGCAAGACCAAATGCAGTGGCTCACGCCTATAATCCGTGGGAGGCCAAGGGGGCCTGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGAATCACTTGAGCCCAGGAGGCAGAGGATGCAGCAATGAGCCAAGATGGCACCACCGCACTCCAGCCTCAGTGACAGAGCCAGACCCTATCTCAAAAAAAAACAAAAAAAACAAAAAGAAAGAAAAAAGAAAAAGCTGGGTGTGGTGGTGCATACTGATAGTCTGAAAAATCTAAGTTTACATGAATTTATATTCCCACCAATATGATGAGAGAGTTGGTGTCATGTCATGCTTTCTGAAACTGGGTTTTAATTAATTAATTTGTTTGTTTATTTTTATTTTTTTTGAGACAGGGTCTTGCTCTTTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCTTCGACCTTCCTGGGCTCGGATGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGCACCAGCCCACCTGGCCAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCCATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTATCTGGCCAGTTTTCAATTTTTTAAATAAAATTTTGACGAGTTAAATATTCTGCCTTGTGAATATAGCCACACGTGGGAGAGAACGTTCCCCAGATGCACGCCTGCCACGGGGGCGCCCCGGGTGCCTCCATGCATGTGCTTGGTTTGTCTCTTCTCAGATGGAGTTTGACGAGAAGGACTTACGACGGGAGATCAGCTATGCCATTAAGAACATCCATGGAGTCAGGCAAGTTCCACGAGGAGAGTCACCACTGTTCCTTCCTCTCCGTGGTGCGACCCCCCAGCTAATTGGGTCACCCACACCTCTGAGTCCCTAATCGTTAGGCCTTAAGAGGGCTCTTGGATGGTTTTCTGTAGCTGCGAGCCCCTCCCTGAGGGTCTCCAAGGGCACATGAGGGTGGATGTGTCTTAGTCCTGCGTCCATTGCAGGCTTCAGGGCTGTCTGCAGCTCCTGATCAAATAGGGCTTAGTTCCTGCCCAGTCGGTTGGTGTGAACCTCATGCTAAACTAAGAATGCTCACTGCAGATTTGCCTGGGGAGGGGCGGGGCGGCACTGAATCAGGGTTTTGGGAAGCCAGCATGAGTCCCCATCATGGCTTCCTCGTGAGCCTCTTGGGTCCCCTCCTTATTCTAACAAAGGTAGTTGCTCCAGGTGTCTGCCCTTCCA 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Task1_train_26415 | This mutation occurs in DNM2 (dynamin 2) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Fetal akinesia-cerebral and retinal hemorrhage syndrome | TGGCGGGAACCTATGGAAGCCACCTGAATTGTGGGGAAGTGGCTACCTTTCCTTCCCAGCATCCTGTAAATCAAGTTGAGCTTCAGGGCAGAGGTGCTGAGCTTTGACCCCTGAACTTCACTCCTGTCTTCTGCAAAGTGGGAGGAATAAGTGGGCCTTCTCAGATCGAATGGGTGAATAATCGGAACAGGCTTAGCTTGAGCCTGACTCGTAGCCAGCATTTGCCATTGGGAGCTCTTGAATTTGGTTTATTTGTCTTAATATAGACAGAAGACATTTTGCTGCTGAAAAATGGTAAAAGAACAGTAAACCCTGGCTTGACTTGGAACATCATTCCAGAGTAGTGTGGAAACCTCCGTTTTGATGCTTGCTTTTTCCTTTTCCTCATAGGATGGTCCAGCAGTTTGGGGTGGATTTTGAGAAGAGGATCGAGGGCTCAGGAGATCAGGTGGACACTCTGGAGCTCTCCGGGGGCGCCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTGGTGAAGGTAGTGCCCCCCGGGGCTGGGCCCTCCCGTCTCTGGTCAGGCACCCTCCTGCTGGCCTCAAGCCAGGCCTCCTCCCAGGCAATAAGGTCTCAAGCTCCTACCTCTAGGCCTGAACTTGTGGTGGGCAGGGTGTGGCCTGGATGAGGTGTCCCCATGGGCTTCCTTTTCTGACACTCAGCTTTGAGGTTTTGGGCAGAACAATATGAAAACCCCTGTGTTTTTCCTCTGACAAAAGCCAATATACATTCTTTGCAAAATACATAGAAAATACAGATAAATTTACATGAGAAGATGTCCCTAGCATGTCATTGAAGAAGGAAAAAATAGGCATTGGAGCCAGCATGTGCAACATAGCACTGAGCTGATATATACAACATCCTTATGTATGAAACTGAACATGGATGTCTGTCTACAAGTGTTTCTTTGTATTTGCAAGGATGTTTGCAAAAATGTCAGCCCTGGGTGCTAGGATTTGGGACTTCTTTTTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATTTGCTTGAAGTTTTATACTGTTTACAATGAGCACATAGCATTTTTTATTAAAAAAACAAACAGTTTTTTAAAATCAGAGGAGCAAGACCAAATGCAGTGGCTCACGCCTATAATCCGTGGGAGGCCAAGGGGGCCTGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGAATCACTTGAGCCCAGGAGGCAGAGGATGCAGCAATGAGCCAAGATGGCACCACCGCACTCCAGCCTCAGTGACAGAGCCAGACCCTATCTCAAAAAAAAACAAAAAAAACAAAAAGAAAGAAAAAAGAAAAAGCTGGGTGTGGTGGTGCATACTGATAGTCTGAAAAATCTAAGTTTACATGAATTTATATTCCCACCAATATGATGAGAGAGTTGGTGTCATGTCATGCTTTCTGAAACTGGGTTTTAATTAATTAATTTGTTTGTTTATTTTTATTTTTTTTGAGACAGGGTCTTGCTCTTTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCTTCGACCTTCCTGGGCTCGGATGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGCACCAGCCCACCTGGCCAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCCATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTATCTGGCCAGTTTTCAATTTTTTAAATAAAATTTTGACGAGTTAAATATTCTGCCTTGTGAATATAGCCACACGTGGGAGAGAACGTTCCCCAGATGCACGCCTGCCACGGGGGCGCCCCGGGTGCCTCCATGCATGTGCTTGGTTTGTCTCTTCTCAGATGGAGTTTGACGAGAAGGACTTACGACGGGAGATCAGCTATGCCATTAAGAACATCCATGGAGTCAGGCAAGTTCCACGAGGAGAGTCACCACTGTTCCTTCCTCTCCGTGGTGCGACCCCCCAGCTAATTGGGTCACCCACACCTCTGAGTCCCTAATCGTTAGGCCTTAAGAGGGCTCTTGGATGGTTTTCTGTAGCTGCGAGCCCCTCCCTGAGGGTCTCCAAGGGCACATGAGGGTGGATGTGTCTTAGTCCTGCGTCCATTGCAGGCTTCAGGGCTGTCTGCAGCTCCTGATCAAATAGGGCTTAGTTCCTGCCCAGTCGGTTGGTGTGAACCTCATGCTAAACTAAGAATGCTCACTGCAGATTTGCCTGGGGAGGGGCGGGGCGGCACTGAATCAGGGTTTTGGGAAGCCAGCATGAGTCCCCATCATGGCTTCCTCGTGAGCCTCTTGGGTCCCCTCCTTATTCTAACAAAGGTAGTTGCTCCAGGTGTCTGCCCTTCCATCGCCGTGGGGTCCTCGGGTCACCCTGAGGGTTTCCGGGCAGTGGACTCAGGCATCCGACCCCACACATGACACAACCTTCATTCCTTGTTGGGGACCCGGCCAGGGCCAATGAAATTGCTGACCATGCTTTGTTTCTCTCTGACTTATCTCCCCTGCCCCCGGGTCTGGACGGTTTCAGGACCGGGCTTTTCACCCCGGACTTGGCATTCGAGGCCATTGTGAAAAAGCAGGTCGTCAAGCTGAAAGAGCCCTGTCTGAAATGTGTCGACCTGGTTATCCAGGAGCTAATCAATACAGTTAGGCAGTGTACCAGTAAGGTATTGCTCCCTCGGCAGGGTGACTCCTGACCTTGTGGAAACGGGGGTACGGGGGTTTGGTATCAGGCTCCCAGCGCCTCATTGGCCCCCACTGGTGCCTTTTCTCCCCATATCGCTTTGTGTCCGTGAACTTGGCCTCTCCCCAGAGGCTGGGGCAGGAGCATGTAGGCCTGGGCCCAGGCACACAGGGGAGTGCCAGGCCTCCTGGACTGGCCAGACAGATGCACAGTTGTCCCTGGGACCCTGATACCAAGCCTAGCATGTGTCTGATGAAATTGGGGTTTCACTGGGCTGTTGCTTTGCTGCCTCCTGGGAAGCAGAGAGGGACCCCCCGCGTCAACTGCTGGAGGCTGAGCTCCTTGAAGCTCCCTGGCTGTCACCCCTTCTTGACCAATGCCCGGCATTCTCAGACTTCCCTGGAGCCACCGACTTCTCTGTCCCTCAGCTCCGGGAATGGCCTGAATGCCAGCGACATCATGAGAGCCAGCTGGGGTCCTAAGTGCCCCTGCCCACCCCCTGCACCCCACGCTGTCCCCCAGGGGCAGCCCATTTTTGGATCCACTTAGTCACAGTGCCTCTATGCGCTCTCGACGAGCCACTGCCTCCACTCAGCAGGACGCGCCGGGCTCCCCCAACCCGCGCCAACGCCGCGGGCCTGGTTCCCAGGGCAGCACGCTTTGGCCAAGCAGCTGAAATGCCTCCCAGTGGGCAGTCTGTGCTTGCGCGACCACAGTGTCCCCAGCGCTCCGGGTTGCCAGGGAATTTCTGCTTGAGCCCCTCTGTTCTTAGTCTGGAAAAGCCCACATTTGCTGCTTAAGCTTCTTCGATTAGAAAAGGGAGGGGGAAAACAGTCCAAACAGGTTGGAAAACGCTCGTCCTAGAGCCAGGTGTCATGGACATGAATGTTAGAGGACTCCGCACACCTTGGCTGTCTGTCTGTGCAATGACAACCCCCCGTGGCCCTTCTGTAACTACACCCCAGACCGAGCCCACACCCCCAAACCCCAGACCTCTTTGATCCGAAGCAGCTTCCGGGGCAAATGCGGGCGCAGGCTCCCCCATGCATGGACTAATCAGATGACTCTCGTTTCTTCTCTTCTCTCTGTCTCCTGTCCTGCGTGTGTGGCCTGCACTGTCCCTGGGTGTCTTTCTGCCTCATCCTGCCCTCCGCATGACCCAGGACGGGGCTCTTCACCCCCGACATGGCCTTTGAAGCCATTGTGAAA 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TGGCGGGAACCTATGGAAGCCACCTGAATTGTGGGGAAGTGGCTACCTTTCCTTCCCAGCATCCTGTAAATCAAGTTGAGCTTCAGGGCAGAGGTGCTGAGCTTTGACCCCTGAACTTCACTCCTGTCTTCTGCAAAGTGGGAGGAATAAGTGGGCCTTCTCAGATCGAATGGGTGAATAATCGGAACAGGCTTAGCTTGAGCCTGACTCGTAGCCAGCATTTGCCATTGGGAGCTCTTGAATTTGGTTTATTTGTCTTAATATAGACAGAAGACATTTTGCTGCTGAAAAATGGTAAAAGAACAGTAAACCCTGGCTTGACTTGGAACATCATTCCAGAGTAGTGTGGAAACCTCCGTTTTGATGCTTGCTTTTTCCTTTTCCTCATAGGATGGTCCAGCAGTTTGGGGTGGATTTTGAGAAGAGGATCGAGGGCTCAGGAGATCAGGTGGACACTCTGGAGCTCTCCGGGGGCGCCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTGGTGAAGGTAGTGCCCCCCGGGGCTGGGCCCTCCCGTCTCTGGTCAGGCACCCTCCTGCTGGCCTCAAGCCAGGCCTCCTCCCAGGCAATAAGGTCTCAAGCTCCTACCTCTAGGCCTGAACTTGTGGTGGGCAGGGTGTGGCCTGGATGAGGTGTCCCCATGGGCTTCCTTTTCTGACACTCAGCTTTGAGGTTTTGGGCAGAACAATATGAAAACCCCTGTGTTTTTCCTCTGACAAAAGCCAATATACATTCTTTGCAAAATACATAGAAAATACAGATAAATTTACATGAGAAGATGTCCCTAGCATGTCATTGAAGAAGGAAAAAATAGGCATTGGAGCCAGCATGTGCAACATAGCACTGAGCTGATATATACAACATCCTTATGTATGAAACTGAACATGGATGTCTGTCTACAAGTGTTTCTTTGTATTTGCAAGGATGTTTGCAAAAATGTCAGCCCTGGGTGCTAGGATTTGGGACTTCTTTTTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATTTGCTTGAAGTTTTATACTGTTTACAATGAGCACATAGCATTTTTTATTAAAAAAACAAACAGTTTTTTAAAATCAGAGGAGCAAGACCAAATGCAGTGGCTCACGCCTATAATCCGTGGGAGGCCAAGGGGGCCTGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGAATCACTTGAGCCCAGGAGGCAGAGGATGCAGCAATGAGCCAAGATGGCACCACCGCACTCCAGCCTCAGTGACAGAGCCAGACCCTATCTCAAAAAAAAACAAAAAAAACAAAAAGAAAGAAAAAAGAAAAAGCTGGGTGTGGTGGTGCATACTGATAGTCTGAAAAATCTAAGTTTACATGAATTTATATTCCCACCAATATGATGAGAGAGTTGGTGTCATGTCATGCTTTCTGAAACTGGGTTTTAATTAATTAATTTGTTTGTTTATTTTTATTTTTTTTGAGACAGGGTCTTGCTCTTTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCTTCGACCTTCCTGGGCTCGGATGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGCACCAGCCCACCTGGCCAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCCATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTATCTGGCCAGTTTTCAATTTTTTAAATAAAATTTTGACGAGTTAAATATTCTGCCTTGTGAATATAGCCACACGTGGGAGAGAACGTTCCCCAGATGCACGCCTGCCACGGGGGCGCCCCGGGTGCCTCCATGCATGTGCTTGGTTTGTCTCTTCTCAGATGGAGGTTGACGAGAAGGACTTACGACGGGAGATCAGCTATGCCATTAAGAACATCCATGGAGTCAGGCAAGTTCCACGAGGAGAGTCACCACTGTTCCTTCCTCTCCGTGGTGCGACCCCCCAGCTAATTGGGTCACCCACACCTCTGAGTCCCTAATCGTTAGGCCTTAAGAGGGCTCTTGGATGGTTTTCTGTAGCTGCGAGCCCCTCCCTGAGGGTCTCCAAGGGCACATGAGGGTGGATGTGTCTTAGTCCTGCGTCCATTGCAGGCTTCAGGGCTGTCTGCAGCTCCTGATCAAATAGGGCTTAGTTCCTGCCCAGTCGGTTGGTGTGAACCTCATGCTAAACTAAGAATGCTCACTGCAGATTTGCCTGGGGAGGGGCGGGGCGGCACTGAATCAGGGTTTTGGGAAGCCAGCATGAGTCCCCATCATGGCTTCCTCGTGAGCCTCTTGGGTCCCCTCCTTATTCTAACAAAGGTAGTTGCTCCAGGTGTCTGCCCTTCCATCGCCGTGGGGTCCTCGGGTCACCCTGAGGGTTTCCGGGCAGTGGACTCAGGCATCCGACCCCACACATGACACAACCTTCATTCCTTGTTGGGGACCCGGCCAGGGCCAATGAAATTGCTGACCATGCTTTGTTTCTCTCTGACTTATCTCCCCTGCCCCCGGGTCTGGACGGTTTCAGGACCGGGCTTTTCACCCCGGACTTGGCATTCGAGGCCATTGTGAAAAAGCAGGTCGTCAAGCTGAAAGAGCCCTGTCTGAAATGTGTCGACCTGGTTATCCAGGAGCTAATCAATACAGTTAGGCAGTGTACCAGTAAGGTATTGCTCCCTCGGCAGGGTGACTCCTGACCTTGTGGAAACGGGGGTACGGGGGTTTGGTATCAGGCTCCCAGCGCCTCATTGGCCCCCACTGGTGCCTTTTCTCCCCATATCGCTTTGTGTCCGTGAACTTGGCCTCTCCCCAGAGGCTGGGGCAGGAGCATGTAGGCCTGGGCCCAGGCACACAGGGGAGTGCCAGGCCTCCTGGACTGGCCAGACAGATGCACAGTTGTCCCTGGGACCCTGATACCAAGCCTAGCATGTGTCTGATGAAATTGGGGTTTCACTGGGCTGTTGCTTTGCTGCCTCCTGGGAAGCAGAGAGGGACCCCCCGCGTCAACTGCTGGAGGCTGAGCTCCTTGAAGCTCCCTGGCTGTCACCCCTTCTTGACCAATGCCCGGCATTCTCAGACTTCCCTGGAGCCACCGACTTCTCTGTCCCTCAGCTCCGGGAATGGCCTGAATGCCAGCGACATCATGAGAGCCAGCTGGGGTCCTAAGTGCCCCTGCCCACCCCCTGCACCCCACGCTGTCCCCCAGGGGCAGCCCATTTTTGGATCCACTTAGTCACAGTGCCTCTATGCGCTCTCGACGAGCCACTGCCTCCACTCAGCAGGACGCGCCGGGCTCCCCCAACCCGCGCCAACGCCGCGGGCCTGGTTCCCAGGGCAGCACGCTTTGGCCAAGCAGCTGAAATGCCTCCCAGTGGGCAGTCTGTGCTTGCGCGACCACAGTGTCCCCAGCGCTCCGGGTTGCCAGGGAATTTCTGCTTGAGCCCCTCTGTTCTTAGTCTGGAAAAGCCCACATTTGCTGCTTAAGCTTCTTCGATTAGAAAAGGGAGGGGGAAAACAGTCCAAACAGGTTGGAAAACGCTCGTCCTAGAGCCAGGTGTCATGGACATGAATGTTAGAGGACTCCGCACACCTTGGCTGTCTGTCTGTGCAATGACAACCCCCCGTGGCCCTTCTGTAACTACACCCCAGACCGAGCCCACACCCCCAAACCCCAGACCTCTTTGATCCGAAGCAGCTTCCGGGGCAAATGCGGGCGCAGGCTCCCCCATGCATGGACTAATCAGATGACTCTCGTTTCTTCTCTTCTCTCTGTCTCCTGTCCTGCGTGTGTGGCCTGCACTGTCCCTGGGTGTCTTTCTGCCTCATCCTGCCCTCCGCATGACCCAGGACGGGGCTCTTCACCCCCGACATGGCCTTTGAAGCCATTGTGAAA 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Task1_train_26416 | This sequence change occurs on Chromosome 19, altering DNM2 (dynamin 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate B | TGGCGGGAACCTATGGAAGCCACCTGAATTGTGGGGAAGTGGCTACCTTTCCTTCCCAGCATCCTGTAAATCAAGTTGAGCTTCAGGGCAGAGGTGCTGAGCTTTGACCCCTGAACTTCACTCCTGTCTTCTGCAAAGTGGGAGGAATAAGTGGGCCTTCTCAGATCGAATGGGTGAATAATCGGAACAGGCTTAGCTTGAGCCTGACTCGTAGCCAGCATTTGCCATTGGGAGCTCTTGAATTTGGTTTATTTGTCTTAATATAGACAGAAGACATTTTGCTGCTGAAAAATGGTAAAAGAACAGTAAACCCTGGCTTGACTTGGAACATCATTCCAGAGTAGTGTGGAAACCTCCGTTTTGATGCTTGCTTTTTCCTTTTCCTCATAGGATGGTCCAGCAGTTTGGGGTGGATTTTGAGAAGAGGATCGAGGGCTCAGGAGATCAGGTGGACACTCTGGAGCTCTCCGGGGGCGCCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTGGTGAAGGTAGTGCCCCCCGGGGCTGGGCCCTCCCGTCTCTGGTCAGGCACCCTCCTGCTGGCCTCAAGCCAGGCCTCCTCCCAGGCAATAAGGTCTCAAGCTCCTACCTCTAGGCCTGAACTTGTGGTGGGCAGGGTGTGGCCTGGATGAGGTGTCCCCATGGGCTTCCTTTTCTGACACTCAGCTTTGAGGTTTTGGGCAGAACAATATGAAAACCCCTGTGTTTTTCCTCTGACAAAAGCCAATATACATTCTTTGCAAAATACATAGAAAATACAGATAAATTTACATGAGAAGATGTCCCTAGCATGTCATTGAAGAAGGAAAAAATAGGCATTGGAGCCAGCATGTGCAACATAGCACTGAGCTGATATATACAACATCCTTATGTATGAAACTGAACATGGATGTCTGTCTACAAGTGTTTCTTTGTATTTGCAAGGATGTTTGCAAAAATGTCAGCCCTGGGTGCTAGGATTTGGGACTTCTTTTTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATTTGCTTGAAGTTTTATACTGTTTACAATGAGCACATAGCATTTTTTATTAAAAAAACAAACAGTTTTTTAAAATCAGAGGAGCAAGACCAAATGCAGTGGCTCACGCCTATAATCCGTGGGAGGCCAAGGGGGCCTGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGAATCACTTGAGCCCAGGAGGCAGAGGATGCAGCAATGAGCCAAGATGGCACCACCGCACTCCAGCCTCAGTGACAGAGCCAGACCCTATCTCAAAAAAAAACAAAAAAAACAAAAAGAAAGAAAAAAGAAAAAGCTGGGTGTGGTGGTGCATACTGATAGTCTGAAAAATCTAAGTTTACATGAATTTATATTCCCACCAATATGATGAGAGAGTTGGTGTCATGTCATGCTTTCTGAAACTGGGTTTTAATTAATTAATTTGTTTGTTTATTTTTATTTTTTTTGAGACAGGGTCTTGCTCTTTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCTTCGACCTTCCTGGGCTCGGATGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGCACCAGCCCACCTGGCCAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCCATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTATCTGGCCAGTTTTCAATTTTTTAAATAAAATTTTGACGAGTTAAATATTCTGCCTTGTGAATATAGCCACACGTGGGAGAGAACGTTCCCCAGATGCACGCCTGCCACGGGGGCGCCCCGGGTGCCTCCATGCATGTGCTTGGTTTGTCTCTTCTCAGATGGAGTTTGACGAGAAGGACTTACGACGGGAGATCAGCTATGCCATTAAGAACATCCATGGAGTCAGGCAAGTTCCACGAGGAGAGTCACCACTGTTCCTTCCTCTCCGTGGTGCGACCCCCCAGCTAATTGGGTCACCCACACCTCTGAGTCCCTAATCGTTAGGCCTTAAGAGGGCTCTTGGATGGTTTTCTGTAGCTGCGAGCCCCTCCCTGAGGGTCTCCAAGGGCACATGAGGGTGGATGTGTCTTAGTCCTGCGTCCATTGCAGGCTTCAGGGCTGTCTGCAGCTCCTGATCAAATAGGGCTTAGTTCCTGCCCAGTCGGTTGGTGTGAACCTCATGCTAAACTAAGAATGCTCACTGCAGATTTGCCTGGGGAGGGGCGGGGCGGCACTGAATCAGGGTTTTGGGAAGCCAGCATGAGTCCCCATCATGGCTTCCTCGTGAGCCTCTTGGGTCCCCTCCTTATTCTAACAAAGGTAGTTGCTCCAGGTGTCTGCCCTTCCATCGCCGTGGGGTCCTCGGGTCACCCTGAGGGTTTCCGGGCAGTGGACTCAGGCATCCGACCCCACACATGACACAACCTTCATTCCTTGTTGGGGACCCGGCCAGGGCCAATGAAATTGCTGACCATGCTTTGTTTCTCTCTGACTTATCTCCCCTGCCCCCGGGTCTGGACGGTTTCAGGACCGGGCTTTTCACCCCGGACTTGGCATTCGAGGCCATTGTGAAAAAGCAGGTCGTCAAGCTGAAAGAGCCCTGTCTGAAATGTGTCGACCTGGTTATCCAGGAGCTAATCAATACAGTTAGGCAGTGTACCAGTAAGGTATTGCTCCCTCGGCAGGGTGACTCCTGACCTTGTGGAAACGGGGGTACGGGGGTTTGGTATCAGGCTCCCAGCGCCTCATTGGCCCCCACTGGTGCCTTTTCTCCCCATATCGCTTTGTGTCCGTGAACTTGGCCTCTCCCCAGAGGCTGGGGCAGGAGCATGTAGGCCTGGGCCCAGGCACACAGGGGAGTGCCAGGCCTCCTGGACTGGCCAGACAGATGCACAGTTGTCCCTGGGACCCTGATACCAAGCCTAGCATGTGTCTGATGAAATTGGGGTTTCACTGGGCTGTTGCTTTGCTGCCTCCTGGGAAGCAGAGAGGGACCCCCCGCGTCAACTGCTGGAGGCTGAGCTCCTTGAAGCTCCCTGGCTGTCACCCCTTCTTGACCAATGCCCGGCATTCTCAGACTTCCCTGGAGCCACCGACTTCTCTGTCCCTCAGCTCCGGGAATGGCCTGAATGCCAGCGACATCATGAGAGCCAGCTGGGGTCCTAAGTGCCCCTGCCCACCCCCTGCACCCCACGCTGTCCCCCAGGGGCAGCCCATTTTTGGATCCACTTAGTCACAGTGCCTCTATGCGCTCTCGACGAGCCACTGCCTCCACTCAGCAGGACGCGCCGGGCTCCCCCAACCCGCGCCAACGCCGCGGGCCTGGTTCCCAGGGCAGCACGCTTTGGCCAAGCAGCTGAAATGCCTCCCAGTGGGCAGTCTGTGCTTGCGCGACCACAGTGTCCCCAGCGCTCCGGGTTGCCAGGGAATTTCTGCTTGAGCCCCTCTGTTCTTAGTCTGGAAAAGCCCACATTTGCTGCTTAAGCTTCTTCGATTAGAAAAGGGAGGGGGAAAACAGTCCAAACAGGTTGGAAAACGCTCGTCCTAGAGCCAGGTGTCATGGACATGAATGTTAGAGGACTCCGCACACCTTGGCTGTCTGTCTGTGCAATGACAACCCCCCGTGGCCCTTCTGTAACTACACCCCAGACCGAGCCCACACCCCCAAACCCCAGACCTCTTTGATCCGAAGCAGCTTCCGGGGCAAATGCGGGCGCAGGCTCCCCCATGCATGGACTAATCAGATGACTCTCGTTTCTTCTCTTCTCTCTGTCTCCTGTCCTGCGTGTGTGGCCTGCACTGTCCCTGGGTGTCTTTCTGCCTCATCCTGCCCTCCGCATGACCCAGGACGGGGCTCTTCACCCCCGACATGGCCTTTGAAGCCATTGTGAAA 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TGGCGGGAACCTATGGAAGCCACCTGAATTGTGGGGAAGTGGCTACCTTTCCTTCCCAGCATCCTGTAAATCAAGTTGAGCTTCAGGGCAGAGGTGCTGAGCTTTGACCCCTGAACTTCACTCCTGTCTTCTGCAAAGTGGGAGGAATAAGTGGGCCTTCTCAGATCGAATGGGTGAATAATCGGAACAGGCTTAGCTTGAGCCTGACTCGTAGCCAGCATTTGCCATTGGGAGCTCTTGAATTTGGTTTATTTGTCTTAATATAGACAGAAGACATTTTGCTGCTGAAAAATGGTAAAAGAACAGTAAACCCTGGCTTGACTTGGAACATCATTCCAGAGTAGTGTGGAAACCTCCGTTTTGATGCTTGCTTTTTCCTTTTCCTCATAGGATGGTCCAGCAGTTTGGGGTGGATTTTGAGAAGAGGATCGAGGGCTCAGGAGATCAGGTGGACACTCTGGAGCTCTCCGGGGGCGCCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTGGTGAAGGTAGTGCCCCCCGGGGCTGGGCCCTCCCGTCTCTGGTCAGGCACCCTCCTGCTGGCCTCAAGCCAGGCCTCCTCCCAGGCAATAAGGTCTCAAGCTCCTACCTCTAGGCCTGAACTTGTGGTGGGCAGGGTGTGGCCTGGATGAGGTGTCCCCATGGGCTTCCTTTTCTGACACTCAGCTTTGAGGTTTTGGGCAGAACAATATGAAAACCCCTGTGTTTTTCCTCTGACAAAAGCCAATATACATTCTTTGCAAAATACATAGAAAATACAGATAAATTTACATGAGAAGATGTCCCTAGCATGTCATTGAAGAAGGAAAAAATAGGCATTGGAGCCAGCATGTGCAACATAGCACTGAGCTGATATATACAACATCCTTATGTATGAAACTGAACATGGATGTCTGTCTACAAGTGTTTCTTTGTATTTGCAAGGATGTTTGCAAAAATGTCAGCCCTGGGTGCTAGGATTTGGGACTTCTTTTTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATTTGCTTGAAGTTTTATACTGTTTACAATGAGCACATAGCATTTTTTATTAAAAAAACAAACAGTTTTTTAAAATCAGAGGAGCAAGACCAAATGCAGTGGCTCACGCCTATAATCCGTGGGAGGCCAAGGGGGCCTGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAAGCTGAGGTAGGAGAATCACTTGAGCCCAGGAGGCAGAGGATGCAGCAATGAGCCAAGATGGCACCACCGCACTCCAGCCTCAGTGACAGAGCCAGACCCTATCTCAAAAAAAAACAAAAAAAACAAAAAGAAAGAAAAAAGAAAAAGCTGGGTGTGGTGGTGCATACTGATAGTCTGAAAAATCTAAGTTTACATGAATTTATATTCCCACCAATATGATGAGAGAGTTGGTGTCATGTCATGCTTTCTGAAACTGGGTTTTAATTAATTAATTTGTTTGTTTATTTTTATTTTTTTTGAGACAGGGTCTTGCTCTTTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCTTCGACCTTCCTGGGCTCGGATGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGCACCAGCCCACCTGGCCAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCCATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTATCTGGCCAGTTTTCAATTTTTTAAATAAAATTTTGACGAGTTAAATATTCTGCCTTGTGAATATAGCCACACGTGGGAGAGAACGTTCCCCAGATGCACGCCTGCCACGGGGGCGCCCCGGGTGCCTCCATGCATGTGCTTGGTTTGTCTCTTCTCAGATGGAGGTTGACGAGAAGGACTTACGACGGGAGATCAGCTATGCCATTAAGAACATCCATGGAGTCAGGCAAGTTCCACGAGGAGAGTCACCACTGTTCCTTCCTCTCCGTGGTGCGACCCCCCAGCTAATTGGGTCACCCACACCTCTGAGTCCCTAATCGTTAGGCCTTAAGAGGGCTCTTGGATGGTTTTCTGTAGCTGCGAGCCCCTCCCTGAGGGTCTCCAAGGGCACATGAGGGTGGATGTGTCTTAGTCCTGCGTCCATTGCAGGCTTCAGGGCTGTCTGCAGCTCCTGATCAAATAGGGCTTAGTTCCTGCCCAGTCGGTTGGTGTGAACCTCATGCTAAACTAAGAATGCTCACTGCAGATTTGCCTGGGGAGGGGCGGGGCGGCACTGAATCAGGGTTTTGGGAAGCCAGCATGAGTCCCCATCATGGCTTCCTCGTGAGCCTCTTGGGTCCCCTCCTTATTCTAACAAAGGTAGTTGCTCCAGGTGTCTGCCCTTCCATCGCCGTGGGGTCCTCGGGTCACCCTGAGGGTTTCCGGGCAGTGGACTCAGGCATCCGACCCCACACATGACACAACCTTCATTCCTTGTTGGGGACCCGGCCAGGGCCAATGAAATTGCTGACCATGCTTTGTTTCTCTCTGACTTATCTCCCCTGCCCCCGGGTCTGGACGGTTTCAGGACCGGGCTTTTCACCCCGGACTTGGCATTCGAGGCCATTGTGAAAAAGCAGGTCGTCAAGCTGAAAGAGCCCTGTCTGAAATGTGTCGACCTGGTTATCCAGGAGCTAATCAATACAGTTAGGCAGTGTACCAGTAAGGTATTGCTCCCTCGGCAGGGTGACTCCTGACCTTGTGGAAACGGGGGTACGGGGGTTTGGTATCAGGCTCCCAGCGCCTCATTGGCCCCCACTGGTGCCTTTTCTCCCCATATCGCTTTGTGTCCGTGAACTTGGCCTCTCCCCAGAGGCTGGGGCAGGAGCATGTAGGCCTGGGCCCAGGCACACAGGGGAGTGCCAGGCCTCCTGGACTGGCCAGACAGATGCACAGTTGTCCCTGGGACCCTGATACCAAGCCTAGCATGTGTCTGATGAAATTGGGGTTTCACTGGGCTGTTGCTTTGCTGCCTCCTGGGAAGCAGAGAGGGACCCCCCGCGTCAACTGCTGGAGGCTGAGCTCCTTGAAGCTCCCTGGCTGTCACCCCTTCTTGACCAATGCCCGGCATTCTCAGACTTCCCTGGAGCCACCGACTTCTCTGTCCCTCAGCTCCGGGAATGGCCTGAATGCCAGCGACATCATGAGAGCCAGCTGGGGTCCTAAGTGCCCCTGCCCACCCCCTGCACCCCACGCTGTCCCCCAGGGGCAGCCCATTTTTGGATCCACTTAGTCACAGTGCCTCTATGCGCTCTCGACGAGCCACTGCCTCCACTCAGCAGGACGCGCCGGGCTCCCCCAACCCGCGCCAACGCCGCGGGCCTGGTTCCCAGGGCAGCACGCTTTGGCCAAGCAGCTGAAATGCCTCCCAGTGGGCAGTCTGTGCTTGCGCGACCACAGTGTCCCCAGCGCTCCGGGTTGCCAGGGAATTTCTGCTTGAGCCCCTCTGTTCTTAGTCTGGAAAAGCCCACATTTGCTGCTTAAGCTTCTTCGATTAGAAAAGGGAGGGGGAAAACAGTCCAAACAGGTTGGAAAACGCTCGTCCTAGAGCCAGGTGTCATGGACATGAATGTTAGAGGACTCCGCACACCTTGGCTGTCTGTCTGTGCAATGACAACCCCCCGTGGCCCTTCTGTAACTACACCCCAGACCGAGCCCACACCCCCAAACCCCAGACCTCTTTGATCCGAAGCAGCTTCCGGGGCAAATGCGGGCGCAGGCTCCCCCATGCATGGACTAATCAGATGACTCTCGTTTCTTCTCTTCTCTCTGTCTCCTGTCCTGCGTGTGTGGCCTGCACTGTCCCTGGGTGTCTTTCTGCCTCATCCTGCCCTCCGCATGACCCAGGACGGGGCTCTTCACCCCCGACATGGCCTTTGAAGCCATTGTGAAA 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Task1_train_26417 | A mutation in DNM2 (dynamin 2), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Centronuclear myopathy | TGCTTTGCTGCCTCCTGGGAAGCAGAGAGGGACCCCCCGCGTCAACTGCTGGAGGCTGAGCTCCTTGAAGCTCCCTGGCTGTCACCCCTTCTTGACCAATGCCCGGCATTCTCAGACTTCCCTGGAGCCACCGACTTCTCTGTCCCTCAGCTCCGGGAATGGCCTGAATGCCAGCGACATCATGAGAGCCAGCTGGGGTCCTAAGTGCCCCTGCCCACCCCCTGCACCCCACGCTGTCCCCCAGGGGCAGCCCATTTTTGGATCCACTTAGTCACAGTGCCTCTATGCGCTCTCGACGAGCCACTGCCTCCACTCAGCAGGACGCGCCGGGCTCCCCCAACCCGCGCCAACGCCGCGGGCCTGGTTCCCAGGGCAGCACGCTTTGGCCAAGCAGCTGAAATGCCTCCCAGTGGGCAGTCTGTGCTTGCGCGACCACAGTGTCCCCAGCGCTCCGGGTTGCCAGGGAATTTCTGCTTGAGCCCCTCTGTTCTTAGTCTGGAAAAGCCCACATTTGCTGCTTAAGCTTCTTCGATTAGAAAAGGGAGGGGGAAAACAGTCCAAACAGGTTGGAAAACGCTCGTCCTAGAGCCAGGTGTCATGGACATGAATGTTAGAGGACTCCGCACACCTTGGCTGTCTGTCTGTGCAATGACAACCCCCCGTGGCCCTTCTGTAACTACACCCCAGACCGAGCCCACACCCCCAAACCCCAGACCTCTTTGATCCGAAGCAGCTTCCGGGGCAAATGCGGGCGCAGGCTCCCCCATGCATGGACTAATCAGATGACTCTCGTTTCTTCTCTTCTCTCTGTCTCCTGTCCTGCGTGTGTGGCCTGCACTGTCCCTGGGTGTCTTTCTGCCTCATCCTGCCCTCCGCATGACCCAGGACGGGGCTCTTCACCCCCGACATGGCCTTTGAAGCCATTGTGAAAAAACAGATTGTAAAACTCAAAGAGCCGAGTTTGAAGTGTGTTGATCTCGTGGTCTCAGAGCTGGCCACGGTCATAAAAAAGTGTGCCGAGAAGGTAACAGGTTTTGTTCTCATCTCCGCATTTGTCCCCGTCCTCCCCCTCCATGTGTTAGTCTCAACCCGAGCATCTGGAAAATTCAGCCTCGGCAGGAACCCCCTTCCGCCTACCAGTTGTCACTTAGAGATGTCGCCACCTTGCATTGGCAGATGGAATGGGGGGAGTGGCATCACACGTGGGTTGTGGCTGCCCGTGGGGGCGGTCAGCCTTTGTTGTTGCCAAACGCATTGCATTTACTAAGCAGTGCCCTTTCCTGGAACCCCTAGAGAAAGGGGTTTCCCAGCCAGCACCAAAACAGCAAAACACAGGAAACACATCATCTGTATAGCCCTGCATGTTCTCACAGTCTAGGCCACCTGAGAGTAACCATTCCATTTTCCCCGACTCGTGGACTTGACCCACACTGCAGAAGATGGGACTCCCCTGTGCATGAGGTCTGGTTAAGTTGGTGCTGCAGATGAAGCCTGGGGAGGTGGGGGCATTTGGCGAGTGTGTGCCACAGATACAGTGATCAGGAGTGGTTCTCTGCAAGGAGTTCCTATCGAGGCTGATGGCCCAGATACCCGCCTTACCATTCTAGAACAGACGCTACTCACTCACGCTGGCGAGGCCCTTCAGGGTTCCTGCTCTCACCCAGTGCTGGGCAAGAGGGGGGTGCCCTGAAGCCCTGCATGGCAAACATGCCCCTGCTTTTCTGCTTTCATGTTGCCTCCTGCCTCCTGCCCCCCGGTCACTGGCTGGAAAAGCAGCTCTGCTCTCCTGCTGTCTCCGGTCCACGGTGCCCCCACTCTTCTGCTCTTAGCTCCCAGCTGGACTCACTGGGGGCCAGGAGCAAGGTGTGGGCTCGGTGGGCCCCCTCATATCTCATTCCCCACCCCCCTCCGCATTTTCTACCTGTGTGGTTCATGTTGCTTCCCGTGCCACGAGGACCCCGCCAATGCGACCACTCTGCTTGTTCCCCCAGCTCAGTTCCTACCCCCGGTTGCGAGAGGAGACAGAGCGAATCGTCACCACTTACATCCGGGAACGGGAGGGGAGAACGAAGGACCAGGTACTGGCCTTTTGTCTTCTTTATTGGGTATAATTTACATGCAGTAAATGTCAAGTGTACTGTTCTGTGCATGCTGACAGCTGCATATGGCAAAGTAACCCTTACCTCAATCAAGATACAGAGCGGTTCCGTCACCTCCTAAAATCCCTGTCCCTATCATGCTGACAGCTGCATATGGCAAAGTAACCCTTACCTCAATCAAGATACAGAGCGGTTCCGTCACCTCCTAAAACCCCTGTCCCTATCATGCTGACAGCTGCATATGGCAAAGTAACCCTTACCTCAATCAAGATACAGAGCGGTTCCGTCACCTCCTAAAATCCCTGTCCCTATGCCCCTTTGTAGTCAACCTCTCAAAAACCCACAGGCCAGGCTGGGTGTAGTAACTCACGCCTGTAATCCCAGCACTTAGGGAGGCTCAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAACGTGGGCAACATAGCAAGACCTTGTCTCTACGAAAACATAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTGTGGTCCCAGTTACTTGGGAGGGTGAGGTGGGAGGATCCCTTGAGCCCACAAGATCAAGGCTTCAGTAAGTTATGGTCGTGCCATCGCCCTCCAGCCTGGGAGACAGAGCGAGACCCCGTCTCTTAAAAAAGAAGCAGCAAAGGAAATCCCCAGGCCCTGGCCACCACCAGCCCGCTCCCTATCCTACAGTCCTTCAAGTGGACTCCCACAACGTAAGGCCCATTGACTCTTGACTCCCTTCCTGCCACCCTTCTTCCCTCCCTCCCTCCCCTCGGCGTCTGCATTTGGGAGCCAAGCGTGTTGTTTGTTGTATCTGTAGTTTGCTGCCTTGATTACTAAGCAATCTTCCAGGGAATGGATGGAGCACAGCAAGGACCTCCACTTGCCTGCTGGAGGGTGTTTGGGGTGCTTTTTGTGTTGTGGTTTTTTGTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTGTCGCCCAGGCTGGGGTGCAGTGGCACGATCTTGACTCACTGCCACCTCCACTTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCGAAGTAGCCAGGACTACAGGCACATGCCACTTTACCCACCTAATTTTTGTATTTTTAGTAGAGAGAGATTTTCACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCTACCACGCCCAGCCTGCTTTTTCTTTTTTTAACATTTAACGCTTTCTTGCAAAGGCATGCAAGCACACACCCCAAGTTGCTGCCTACCCCTCAGCTGAGACTGTCACCCACGAAGCACTGGGCCGTCCTTATACTCTCCTGCAGCCGCAGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGTGAGCTACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTTAGCTCAAATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCTCCCAGATCTGTTTTGAGTCACTTTCTCTCAGTTGTCCTCTGTGTTCTTTTTACAACTGTTTGTTGAAACCAGAGCTTAATTAAGCCCTTGCTTGCTATGTCACTTTGTTTAAAATGGTCCCTCTCCCCTTGCCATTGATGGGGATGAAATGGGCTCATTTGTCCTGCAGGGAGGCGCCCAGTTTTGATTTGGCCAATTGCTCCCTCAGGGCACCAGTCCACCTATGCCTCATAGCTGCTGTAGCTTGGAAATTGTATCAAAAGTCTGGAAGAGTCTGATTCTTTTTGTTGTTACTGTTGGTAAGAATGCTGCCGGCCCTTCCACAGCCCCTGGTGCCCACCTGCCATGCTGCCAGGCCGGATCTGAGAGCGCTGGGTTGAGGAGACTCAGGCCTTACTAAACCAGCCACGCTCGCTCCCACAGATGGAGCACCCTGGCATT 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TGCTTTGCTGCCTCCTGGGAAGCAGAGAGGGACCCCCCGCGTCAACTGCTGGAGGCTGAGCTCCTTGAAGCTCCCTGGCTGTCACCCCTTCTTGACCAATGCCCGGCATTCTCAGACTTCCCTGGAGCCACCGACTTCTCTGTCCCTCAGCTCCGGGAATGGCCTGAATGCCAGCGACATCATGAGAGCCAGCTGGGGTCCTAAGTGCCCCTGCCCACCCCCTGCACCCCACGCTGTCCCCCAGGGGCAGCCCATTTTTGGATCCACTTAGTCACAGTGCCTCTATGCGCTCTCGACGAGCCACTGCCTCCACTCAGCAGGACGCGCCGGGCTCCCCCAACCCGCGCCAACGCCGCGGGCCTGGTTCCCAGGGCAGCACGCTTTGGCCAAGCAGCTGAAATGCCTCCCAGTGGGCAGTCTGTGCTTGCGCGACCACAGTGTCCCCAGCGCTCCGGGTTGCCAGGGAATTTCTGCTTGAGCCCCTCTGTTCTTAGTCTGGAAAAGCCCACATTTGCTGCTTAAGCTTCTTCGATTAGAAAAGGGAGGGGGAAAACAGTCCAAACAGGTTGGAAAACGCTCGTCCTAGAGCCAGGTGTCATGGACATGAATGTTAGAGGACTCCGCACACCTTGGCTGTCTGTCTGTGCAATGACAACCCCCCGTGGCCCTTCTGTAACTACACCCCAGACCGAGCCCACACCCCCAAACCCCAGACCTCTTTGATCCGAAGCAGCTTCCGGGGCAAATGCGGGCGCAGGCTCCCCCATGCATGGACTAATCAGATGACTCTCGTTTCTTCTCTTCTCTCTGTCTCCTGTCCTGCGTGTGTGGCCTGCACTGTCCCTGGGTGTCTTTCTGCCTCATCCTGCCCTCCGCATGACCCAGGACGGGGCTCTTCACCCCCGACATGGCCTTTGAAGCCATTGTGAAAAAACAGATTGTAAAACTCAAAGAGCCGAGTTTGAAGTGTGTTGATCTCGTGGTCTCAGAGCTGGCCACGGTCATAAAAAAGTGTGCCGAGAAGGTAACAGGTTTTGTTCTCATCTCCGCATTTGTCCCCGTCCTCCCCCTCCATGTGTTAGTCTCAACCCGAGCATCTGGAAAATTCAGCCTCGGCAGGAACCCCCTTCCGCCTACCAGTTGTCACTTAGAGATGTCGCCACCTTGCATTGGCAGATGGAATGGGGGGAGTGGCATCACACGTGGGTTGTGGCTGCCCGTGGGGGCGGTCAGCCTTTGTTGTTGCCAAACGCATTGCATTTACTAAGCAGTGCCCTTTCCTGGAACCCCTAGAGAAAGGGGTTTCCCAGCCAGCACCAAAACAGCAAAACACAGGAAACACATCATCTGTATAGCCCTGCATGTTCTCACAGTCTAGGCCACCTGAGAGTAACCATTCCATTTTCCCCGACTCGTGGACTTGACCCACACTGCAGAAGATGGGACTCCCCTGTGCATGAGGTCTGGTTAAGTTGGTGCTGCAGATGAAGCCTGGGGAGGTGGGGGCATTTGGCGAGTGTGTGCCACAGATACAGTGATCAGGAGTGGTTCTCTGCAAGGAGTTCCTATCGAGGCTGATGGCCCAGATACCCGCCTTACCATTCTAGAACAGACGCTACTCACTCACGCTGGCGAGGCCCTTCAGGGTTCCTGCTCTCACCCAGTGCTGGGCAAGAGGGGGGTGCCCTGAAGCCCTGCATGGCAAACATGCCCCTGCTTTTCTGCTTTCATGTTGCCTCCTGCCTCCTGCCCCCCGGTCACTGGCTGGAAAAGCAGCTCTGCTCTCCTGCTGTCTCCGGTCCACGGTGCCCCCACTCTTCTGCTCTTAGCTCCCAGCTGGACTCACTGGGGGCCAGGAGCAAGGTGTGGGCTCGGTGGGCCCCCTCATATCTCATTCCCCACCCCCCTCCGCATTTTCTACCTGTGTGGTTCATGTTGCTTCCCGTGCCACGAGGACCCCGCCAATGCGACCACTCTGCTTGTTCCCCCAGCTCAGTTCCTACCCCCGGTTGCGAGAGGAGACAGAGCGAATCGTCACCACTTACATCTGGGAACGGGAGGGGAGAACGAAGGACCAGGTACTGGCCTTTTGTCTTCTTTATTGGGTATAATTTACATGCAGTAAATGTCAAGTGTACTGTTCTGTGCATGCTGACAGCTGCATATGGCAAAGTAACCCTTACCTCAATCAAGATACAGAGCGGTTCCGTCACCTCCTAAAATCCCTGTCCCTATCATGCTGACAGCTGCATATGGCAAAGTAACCCTTACCTCAATCAAGATACAGAGCGGTTCCGTCACCTCCTAAAACCCCTGTCCCTATCATGCTGACAGCTGCATATGGCAAAGTAACCCTTACCTCAATCAAGATACAGAGCGGTTCCGTCACCTCCTAAAATCCCTGTCCCTATGCCCCTTTGTAGTCAACCTCTCAAAAACCCACAGGCCAGGCTGGGTGTAGTAACTCACGCCTGTAATCCCAGCACTTAGGGAGGCTCAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAACGTGGGCAACATAGCAAGACCTTGTCTCTACGAAAACATAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTGTGGTCCCAGTTACTTGGGAGGGTGAGGTGGGAGGATCCCTTGAGCCCACAAGATCAAGGCTTCAGTAAGTTATGGTCGTGCCATCGCCCTCCAGCCTGGGAGACAGAGCGAGACCCCGTCTCTTAAAAAAGAAGCAGCAAAGGAAATCCCCAGGCCCTGGCCACCACCAGCCCGCTCCCTATCCTACAGTCCTTCAAGTGGACTCCCACAACGTAAGGCCCATTGACTCTTGACTCCCTTCCTGCCACCCTTCTTCCCTCCCTCCCTCCCCTCGGCGTCTGCATTTGGGAGCCAAGCGTGTTGTTTGTTGTATCTGTAGTTTGCTGCCTTGATTACTAAGCAATCTTCCAGGGAATGGATGGAGCACAGCAAGGACCTCCACTTGCCTGCTGGAGGGTGTTTGGGGTGCTTTTTGTGTTGTGGTTTTTTGTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTGTCGCCCAGGCTGGGGTGCAGTGGCACGATCTTGACTCACTGCCACCTCCACTTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCGAAGTAGCCAGGACTACAGGCACATGCCACTTTACCCACCTAATTTTTGTATTTTTAGTAGAGAGAGATTTTCACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCTACCACGCCCAGCCTGCTTTTTCTTTTTTTAACATTTAACGCTTTCTTGCAAAGGCATGCAAGCACACACCCCAAGTTGCTGCCTACCCCTCAGCTGAGACTGTCACCCACGAAGCACTGGGCCGTCCTTATACTCTCCTGCAGCCGCAGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGTGAGCTACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTTAGCTCAAATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCTCCCAGATCTGTTTTGAGTCACTTTCTCTCAGTTGTCCTCTGTGTTCTTTTTACAACTGTTTGTTGAAACCAGAGCTTAATTAAGCCCTTGCTTGCTATGTCACTTTGTTTAAAATGGTCCCTCTCCCCTTGCCATTGATGGGGATGAAATGGGCTCATTTGTCCTGCAGGGAGGCGCCCAGTTTTGATTTGGCCAATTGCTCCCTCAGGGCACCAGTCCACCTATGCCTCATAGCTGCTGTAGCTTGGAAATTGTATCAAAAGTCTGGAAGAGTCTGATTCTTTTTGTTGTTACTGTTGGTAAGAATGCTGCCGGCCCTTCCACAGCCCCTGGTGCCCACCTGCCATGCTGCCAGGCCGGATCTGAGAGCGCTGGGTTGAGGAGACTCAGGCCTTACTAAACCAGCCACGCTCGCTCCCACAGATGGAGCACCCTGGCATT 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Task1_train_26418 | The gene DNM2 (dynamin 2), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate B | CCCTTGGGCAAACGTCCGAGCCGGGGGCAGGGCTTCTGCAGAGCCCCCTCCCCTAGCCCCTTCTAAAGCCCCCAAAACTCTTCCCCGAAAGGTGGGAGGGACCCAGGCCCTGTGTTACCCAGCCTTGCCTGGGATGACGGGTGCAGGCTTTCTTCATCACCTTCCCTCCCTTGGGTCCGCAGCGGCATCCCTCCCTCCATGGCCACCGGGCCCCTCTCCTATGCTCTGCTCCCTCCATGGCCACCGGGCCCCTCTCCTATGCTCTGCTCCCTCCATGGCCACCGGGCCCCTCTTCCTATGCTCTGCCCTACTTCTTTGCCTAGAGCCTGGCAGGCTAATCCTGGAGCCGCTCACAAGAGCAACCAAAGAAAATCCCGGGTGCTCATGGGCACCAGCTCTGCAGTGGGCACCAAGCTCCTCCATCCTCCTTGGATAGATGAGGAAACTGAGATGAAATGGGAGGTGGCGGGGAAGTGGCTTGCCCGAGGGCACACGGCCAGGAAAGGGCAGGGCTGGCATCACCTCAACCATGCTGAGCTCCTAACGCCCTGAGGCTGAGCCCATGTGCCAAGCCCACTGCTTCATCCTGGCTCCCCTTGCAAAGTCCTGACAGTCCCAGCTGGCCCCCACTTGCCAGGGAGCCCCCGCTGCCTTCTCCACAGTCACTGTGGCTGCTCCTGAACTTGGAGGCGGCAGCCAGGTTAGGCTTTGTGCTGGGGCAGCGCAGTGAGGGGACATGAGAGGAGTTTCCAGAGACGGCCCAGGGAGAAGAAGGGCCAGGGGCACTGTGGGGAGGACTGGGCTTTGGGTCACAGAGACCTGGCCTCTGAAGTCCTGCTGTGGCTTGCGCTGCCTGCCGTGTGGCCTTCGGCAGCCAGCTTCCCTCTCTGAGCTAGGAGGGATCCGTGAACTGAGACCAAGCAGTGCATGGCATGGGTCCCCAAGAGCTGCTGCTGTGGCGGGTGGGCACACACATCACTGGGTGAGTGTGGGACTCCAGGGTGCCACCCCCAGCTCCGTGACTCGCCAGCCCCTTGCCCCTGGCCGAGGGGCCCACCTCTGAGCTGCCTCCCTAGCAGTCTGGACAGCCGTGGCTGGCACTTGGTGCTTCCTGAACAGGGCCAACCTTAGAAAGCAAGTGATAGGGCAGGTGCGGTGGTGCACACCTGTAATCCCAGCACTCTGGGAGGCTCGCTTGAACCCAGGAGTTTAAGACCAGCCTGGGCAACATAGCGAGACCCCATCTCTATTAAAATAATGATAATGATAATAATAAAGAAAGGGAGTAAGGCTTCTGCAGCACCTGGCCCAGGACCTATCCAGCCCCAAGATGTCCTAAAGCGGCCAAGGTTGAAATCCCAGCCCTGCTCCTCTCTGCCTCAGTCTTCCCCTCTGTAAAATGGCATCACAGAGGTAACTCACTCCTAGGCTCGTTTCAAAGATGGAGCCCAGATAAAAGTTCCATTCACTTCGTGCAAGGCGAGGGGCAGTTGTGTTGTGCGTGCCGTCAGCCACATGTCAGCAGTGAACTCAACAGGAGTCCCTGCCCTGGAGAAACTTGAGTCAGTCCAGTGGCAGTCAGCCACCTAGGTCAATAAGCACAGGCAGTCAGGCACCTAGGTCAACAAGCGCAGGATACGTGACGTGTTGTGTGAGGGAAAAGGAGGATGGAGGTGGGGAGGGTGCGGGTAGAGTTAGGGCAGGAGGGAGCCATGCAAGTGTCAGGATCAGGCAGTAGCCCGGTCGTCCGAAGGCCCTGGGGTAGGAACCCAGGTGGGATACTCAGGGAGCATCATGGAGGGCAGCGTGGCTGGGACAGAGTGACGGACGGGGAAGGGCCGGCAGATGGGCTCATATACAGCAGCGACCAGCATTGAGAAGCCCCCGGGGCTGGTGGTGGCGCATGCTACACGCTCTGGCCTGGGGCATCCTGAGTTGTCACGTGGACCGCTCAGGGTGACTCTTTTCCCTCCACCCTCAGGAGAAAGAGAAGAAGTACATGCTGCCTCTGGACAACCTCAAGATCCGTGATGTGGAGAAGGGCTTCATGTCCAACAAGCACGTCTTCGCCATCTTCAACACGGAGCAGAGGTGAGGGGCCCAGGGGCCTGGGGATGGCTCGGGGTGAAGACCAATGGCCTCATTCACACTCCACAACCTTCACTGAGCACTGAGCACCTGGCTGTCAGCAGTCCCTGCCCTTGGGACCCAGCTTTTAGAAAGGGGAGTCACGTGAGAAATAGCAAATGCCAGGGATGCTTCCCGTGCTGGGTCAGAGATGACCTCTCTGGGCAGAGATGAGGATGAAGGCAGGCTCCGAGTCAGTGGGAGCCATGGAGAGTTCTGAGCACAGGGTGACCAGGACCTGGCTCAGGTGCTTGCAGGAGCCCTCTGGTGGCTGAGAGGGAAACAGTATGAGAGGGTGAGAGATGGGGGACGAGGGCAAAGGCCGCTGCCTTGTCCAAGTGGGCGATGATGGGGCCAGAACCCATAGGGAAGGAGGGTGCAGATTCTGGGTAGAAGAGTCAGGCGGAGCCCTGGTGGGCATGGATATGAGAGAGAAAGGCACCAATTGTGACCCTGAGTACGTGGGCCTGAGCTCCTGCACTGCCCAGCTGCTGCCATTGGCCGAGGTGGGGAAGGCAGCGGCAGGTAGGCCTGGAGACAGCCAAGAGCTCCATTTAGGCCATGCCAAGGGAGAGGGTGCATCAGGGAGGCACCTGGGTAGATCGAGGAGTGTGATGTCCAGGAACGAGCTCCAGTCTGGGATGTGAACTGGGCAGTCACCATTGCGTGGATGGTATTTCAAGGAACGAAACCAGATGAGCTCCCAGGAGAGTGAAGCTGGAGAATGGGAGGCCCCAGGAAGCTCACAGTACATCTGTCCCATGAGGCGTAGCTGGAGACTTTAGCAGAGACACTGCTCTCAGGAAGAAACCCAGCTGGCAGGAGGGCTCTTCCCATGCTCACACAATCACGCTCATCCAGGAAGCAGGGCCCACCTGAGTCAGGGATTAGCTGTCAGTAAAGGCCCGGTGGTACCCTGAGACCTGTAGGCAGGCACTGACGTCCTCCCTGCTGGCCCCAGAACCTCCTTGCCTACTGCTTGGCTACACCCACCAACTCCAGCTGAGTCTCCTGGTTCCCTCCTGCTTTGCTCTGGCTGGCCTAAAGCTCGAGACCCATTTGTCCACCAGCTGGCCGTGAAAACCTTCATAGCTCTTCTAGGCTTGCCCCTGGCCATATGACACCTGGCAGCTGTCCCAGGTCCCTGAGCCGTGTGCCTCCTGTACAGGGAGGGTGACAATATTATCTGATATATCTTTTAAGAGCAGGTTCAGGAAACCCAGAGTAGTAGCTGCAAAAACAAGATAAGATGGTTGATAGTTTTTTGTGTAAATTAAGTCCAGACTTTAGTATCCCGGGCAAAGTGGAGCAGCTCCACAGGCATCAGGGTCCAGGCCCTGCATGTTCCTCAGGATTCCACCTGATATGCAGAAGCCGAGCTCTGCGGTGGGACAGGCCTGCCATGAAATCCTGACTTTTTTTTTAAACGGAGTTCCGCTGTTGTTGCCCAGGCTAGAGTGCAATGGTGCGATCTCAGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCACCACCACGCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCTCCATATTGGTCAGGCTGGGCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCT 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CCCTTGGGCAAACGTCCGAGCCGGGGGCAGGGCTTCTGCAGAGCCCCCTCCCCTAGCCCCTTCTAAAGCCCCCAAAACTCTTCCCCGAAAGGTGGGAGGGACCCAGGCCCTGTGTTACCCAGCCTTGCCTGGGATGACGGGTGCAGGCTTTCTTCATCACCTTCCCTCCCTTGGGTCCGCAGCGGCATCCCTCCCTCCATGGCCACCGGGCCCCTCTCCTATGCTCTGCTCCCTCCATGGCCACCGGGCCCCTCTCCTATGCTCTGCTCCCTCCATGGCCACCGGGCCCCTCTTCCTATGCTCTGCCCTACTTCTTTGCCTAGAGCCTGGCAGGCTAATCCTGGAGCCGCTCACAAGAGCAACCAAAGAAAATCCCGGGTGCTCATGGGCACCAGCTCTGCAGTGGGCACCAAGCTCCTCCATCCTCCTTGGATAGATGAGGAAACTGAGATGAAATGGGAGGTGGCGGGGAAGTGGCTTGCCCGAGGGCACACGGCCAGGAAAGGGCAGGGCTGGCATCACCTCAACCATGCTGAGCTCCTAACGCCCTGAGGCTGAGCCCATGTGCCAAGCCCACTGCTTCATCCTGGCTCCCCTTGCAAAGTCCTGACAGTCCCAGCTGGCCCCCACTTGCCAGGGAGCCCCCGCTGCCTTCTCCACAGTCACTGTGGCTGCTCCTGAACTTGGAGGCGGCAGCCAGGTTAGGCTTTGTGCTGGGGCAGCGCAGTGAGGGGACATGAGAGGAGTTTCCAGAGACGGCCCAGGGAGAAGAAGGGCCAGGGGCACTGTGGGGAGGACTGGGCTTTGGGTCACAGAGACCTGGCCTCTGAAGTCCTGCTGTGGCTTGCGCTGCCTGCCGTGTGGCCTTCGGCAGCCAGCTTCCCTCTCTGAGCTAGGAGGGATCCGTGAACTGAGACCAAGCAGTGCATGGCATGGGTCCCCAAGAGCTGCTGCTGTGGCGGGTGGGCACACACATCACTGGGTGAGTGTGGGACTCCAGGGTGCCACCCCCAGCTCCGTGACTCGCCAGCCCCTTGCCCCTGGCCGAGGGGCCCACCTCTGAGCTGCCTCCCTAGCAGTCTGGACAGCCGTGGCTGGCACTTGGTGCTTCCTGAACAGGGCCAACCTTAGAAAGCAAGTGATAGGGCAGGTGCGGTGGTGCACACCTGTAATCCCAGCACTCTGGGAGGCTCGCTTGAACCCAGGAGTTTAAGACCAGCCTGGGCAACATAGCGAGACCCCATCTCTATTAAAATAATGATAATGATAATAATAAAGAAAGGGAGTAAGGCTTCTGCAGCACCTGGCCCAGGACCTATCCAGCCCCAAGATGTCCTAAAGCGGCCAAGGTTGAAATCCCAGCCCTGCTCCTCTCTGCCTCAGTCTTCCCCTCTGTAAAATGGCATCACAGAGGTAACTCACTCCTAGGCTCGTTTCAAAGATGGAGCCCAGATAAAAGTTCCATTCACTTCGTGCAAGGCGAGGGGCAGTTGTGTTGTGCGTGCCGTCAGCCACATGTCAGCAGTGAACTCAACAGGAGTCCCTGCCCTGGAGAAACTTGAGTCAGTCCAGTGGCAGTCAGCCACCTAGGTCAATAAGCACAGGCAGTCAGGCACCTAGGTCAACAAGCGCAGGATACGTGACGTGTTGTGTGAGGGAAAAGGAGGATGGAGGTGGGGAGGGTGCGGGTAGAGTTAGGGCAGGAGGGAGCCATGCAAGTGTCAGGATCAGGCAGTAGCCCGGTCGTCCGAAGGCCCTGGGGTAGGAACCCAGGTGGGATACTCAGGGAGCATCATGGAGGGCAGCGTGGCTGGGACAGAGTGACGGACGGGGAAGGGCCGGCAGATGGGCTCATATACAGCAGCGACCAGCATTGAGAAGCCCCCGGGGCTGGTGGTGGCGCATGCTACACGCTCTGGCCTGGGGCATCCTGAGTTGTCACGTGGACCGCTCAGGGTGACTCTTTTCCCTCCACCCTCAGGAGAAAGAGAAGAAGTACATGCTGCCTCTGGACAACCTCAAGATCCGTGATGTGGAGAAGGGCTTCACGTCCAACAAGCACGTCTTCGCCATCTTCAACACGGAGCAGAGGTGAGGGGCCCAGGGGCCTGGGGATGGCTCGGGGTGAAGACCAATGGCCTCATTCACACTCCACAACCTTCACTGAGCACTGAGCACCTGGCTGTCAGCAGTCCCTGCCCTTGGGACCCAGCTTTTAGAAAGGGGAGTCACGTGAGAAATAGCAAATGCCAGGGATGCTTCCCGTGCTGGGTCAGAGATGACCTCTCTGGGCAGAGATGAGGATGAAGGCAGGCTCCGAGTCAGTGGGAGCCATGGAGAGTTCTGAGCACAGGGTGACCAGGACCTGGCTCAGGTGCTTGCAGGAGCCCTCTGGTGGCTGAGAGGGAAACAGTATGAGAGGGTGAGAGATGGGGGACGAGGGCAAAGGCCGCTGCCTTGTCCAAGTGGGCGATGATGGGGCCAGAACCCATAGGGAAGGAGGGTGCAGATTCTGGGTAGAAGAGTCAGGCGGAGCCCTGGTGGGCATGGATATGAGAGAGAAAGGCACCAATTGTGACCCTGAGTACGTGGGCCTGAGCTCCTGCACTGCCCAGCTGCTGCCATTGGCCGAGGTGGGGAAGGCAGCGGCAGGTAGGCCTGGAGACAGCCAAGAGCTCCATTTAGGCCATGCCAAGGGAGAGGGTGCATCAGGGAGGCACCTGGGTAGATCGAGGAGTGTGATGTCCAGGAACGAGCTCCAGTCTGGGATGTGAACTGGGCAGTCACCATTGCGTGGATGGTATTTCAAGGAACGAAACCAGATGAGCTCCCAGGAGAGTGAAGCTGGAGAATGGGAGGCCCCAGGAAGCTCACAGTACATCTGTCCCATGAGGCGTAGCTGGAGACTTTAGCAGAGACACTGCTCTCAGGAAGAAACCCAGCTGGCAGGAGGGCTCTTCCCATGCTCACACAATCACGCTCATCCAGGAAGCAGGGCCCACCTGAGTCAGGGATTAGCTGTCAGTAAAGGCCCGGTGGTACCCTGAGACCTGTAGGCAGGCACTGACGTCCTCCCTGCTGGCCCCAGAACCTCCTTGCCTACTGCTTGGCTACACCCACCAACTCCAGCTGAGTCTCCTGGTTCCCTCCTGCTTTGCTCTGGCTGGCCTAAAGCTCGAGACCCATTTGTCCACCAGCTGGCCGTGAAAACCTTCATAGCTCTTCTAGGCTTGCCCCTGGCCATATGACACCTGGCAGCTGTCCCAGGTCCCTGAGCCGTGTGCCTCCTGTACAGGGAGGGTGACAATATTATCTGATATATCTTTTAAGAGCAGGTTCAGGAAACCCAGAGTAGTAGCTGCAAAAACAAGATAAGATGGTTGATAGTTTTTTGTGTAAATTAAGTCCAGACTTTAGTATCCCGGGCAAAGTGGAGCAGCTCCACAGGCATCAGGGTCCAGGCCCTGCATGTTCCTCAGGATTCCACCTGATATGCAGAAGCCGAGCTCTGCGGTGGGACAGGCCTGCCATGAAATCCTGACTTTTTTTTTAAACGGAGTTCCGCTGTTGTTGCCCAGGCTAGAGTGCAATGGTGCGATCTCAGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCACCACCACGCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCTCCATATTGGTCAGGCTGGGCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCT 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Task1_train_26419 | Gene DNM2 (dynamin 2) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Centronuclear myopathy | TGTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATAC 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TGTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGACCTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATAC 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Task1_train_26420 | With a mutation on Chromosome 19 in gene DNM2 (dynamin 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate B | GTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATACC 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GTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGACTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATACC 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Task1_train_26421 | The gene DNM2 (dynamin 2) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Autosomal dominant centronuclear myopathy | GTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATACC 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GTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGACTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATACC 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Task1_train_26422 | Here is a variant affecting DNM2 (dynamin 2) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | AGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATACCTGT 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AGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTGGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATACCTGT 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Task1_train_26423 | This mutation occurs in DNM2 (dynamin 2) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate B | TGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATACCTGTTTGTAG 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TGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCCCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATACCTGTTTGTAG 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Task1_train_26424 | The gene DNM2 (dynamin 2) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Autosomal dominant centronuclear myopathy | TGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATACCTGTTTGTAG | TGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCCCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATACCTGTTTGTAG 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Task1_train_26425 | This variant lies on Chromosome 19 and affects the gene DNM2 (dynamin 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Centronuclear myopathy | TGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATACCTGTTTGTAG 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TGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCCCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATACCTGTTTGTAG 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Task1_train_26426 | Here is a mutation in DNM2 (dynamin 2) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | CCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATACCTGTTTGTAGTCTTAGCACTTTGGGAG 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CCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACGCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATACCTGTTTGTAGTCTTAGCACTTTGGGAG 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Task1_train_26427 | Here’s a variant in DNM2 (dynamin 2) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Centronuclear myopathy | CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATACCTGTTTGTAGTCTTAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTGTGTCCAACAACAGCAACAACAAATTTGAATGAATCACCACCCTTTGAACACCAGAATCTGCACGGCCATCCTCTTTGGGAAACCCTAGGGTTTCCGAGCCACACTGGGTCCATAGTCCCATCAAGTCCACTAACTGGAGTGAACACTGCAGGTGTGCGCCTTCTCTGAATTAACTTAGGCTGGCATCAGAATAACTGCAGGAGGGAGAACGGCCATCTTCCCCATTTCACAGACAGAAAACAAGGCCAGAGAGATCAAGTAACCTGCCCCAAGTTCCTTAGGAAAGTGGGAAGTGGGATTCAAACCCACGTTTACCCTGGTTGCAACCATACCCTTGGGTTGTGTTGGGCAGCCGCTGTGTCCTAATGATCTGGGGCCCAGCCTCTTCCTCATGGGCGTCACCCGCCTGGCCCCGGGTTCCCTGGAGACTCTCAGGGCTCTGGGCTCCTCTTCAGTGAAATGCAGCTGTACTGATAGTATCTCCAGCTCAGGCTGCTAGAGGGCTCAGGGCACTTGTGTATCAGGCCTTTGGCATGGCACTAGCCACTCAGGAAGCTTTATAAACCAGCTTTGGGGCCGGAGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGCTGAAGACCAGCCTGGGCAACATAGCCATACCCCAGTCTCTACAAAAAATTTAAAAATTAGCTGGGCGTGGTGGCAAATGCCTGTAGTCCCAGCTACTCAGAAGACCGAGGTAAGAGCATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCATGATTACGCCACTGCTCTCCAGCCTGGGTGATGGAGCAGGAACCTCTTTCAAAAAAAAAGTGTCTTGGGTTTTGTATATGAATGTCAACCACAGAAACCTGCGGATCTAAGTAAAACTCCCACACAGGGTGTGGCTGGGCATGGTGGCTCACATCTGTACTCCCAGCACTTTGGGAGGCTTGGCAGGAGGATCACTCGATCCCAGGAGTTCAAGACCAGCCTGGACAACATAGTGAGACCCCATCCCTATTTAAAACACACACACACCTCCCACGTGCCATGCCCTCCCACCCTGTTGCTCCCATTCTCAGTAGTGATCAGT | CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGAAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATGAGAAGGAGGCCAGGCACCCTAGGCCATACCTGTTTGTAGTCTTAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTGTGTCCAACAACAGCAACAACAAATTTGAATGAATCACCACCCTTTGAACACCAGAATCTGCACGGCCATCCTCTTTGGGAAACCCTAGGGTTTCCGAGCCACACTGGGTCCATAGTCCCATCAAGTCCACTAACTGGAGTGAACACTGCAGGTGTGCGCCTTCTCTGAATTAACTTAGGCTGGCATCAGAATAACTGCAGGAGGGAGAACGGCCATCTTCCCCATTTCACAGACAGAAAACAAGGCCAGAGAGATCAAGTAACCTGCCCCAAGTTCCTTAGGAAAGTGGGAAGTGGGATTCAAACCCACGTTTACCCTGGTTGCAACCATACCCTTGGGTTGTGTTGGGCAGCCGCTGTGTCCTAATGATCTGGGGCCCAGCCTCTTCCTCATGGGCGTCACCCGCCTGGCCCCGGGTTCCCTGGAGACTCTCAGGGCTCTGGGCTCCTCTTCAGTGAAATGCAGCTGTACTGATAGTATCTCCAGCTCAGGCTGCTAGAGGGCTCAGGGCACTTGTGTATCAGGCCTTTGGCATGGCACTAGCCACTCAGGAAGCTTTATAAACCAGCTTTGGGGCCGGAGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGCTGAAGACCAGCCTGGGCAACATAGCCATACCCCAGTCTCTACAAAAAATTTAAAAATTAGCTGGGCGTGGTGGCAAATGCCTGTAGTCCCAGCTACTCAGAAGACCGAGGTAAGAGCATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCATGATTACGCCACTGCTCTCCAGCCTGGGTGATGGAGCAGGAACCTCTTTCAAAAAAAAAGTGTCTTGGGTTTTGTATATGAATGTCAACCACAGAAACCTGCGGATCTAAGTAAAACTCCCACACAGGGTGTGGCTGGGCATGGTGGCTCACATCTGTACTCCCAGCACTTTGGGAGGCTTGGCAGGAGGATCACTCGATCCCAGGAGTTCAAGACCAGCCTGGACAACATAGTGAGACCCCATCCCTATTTAAAACACACACACACCTCCCACGTGCCATGCCCTCCCACCCTGTTGCTCCCATTCTCAGTAGTGATCAGT 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Task1_train_26428 | The variant affects gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Intellectual disability, autosomal dominant 16 | TTGGCTGGGCTGGTCTCGAACTCCTGACCTCAGGCATTTTGTCCTCCTCAGCCTCCCAAAGCGATATTCTAGGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGGCCCCTCACCACGCCCGGCTGATTTTTTGAATTTTTTTTGTTAGTAGAGATGGGGTTTTACCATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCTAATTTTTTTATTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCTGCCTCCCAAAGCGCTGGGATTACAGGCCAATATTCTAGGTTTTAAACAAGCCTTGCGGGGAGATGTGTCCACCATGCTGCTGAAGGGTCAGCCTTCTCTTTTGTGCTTTCCTGCAGGAATACCTCAATAGCATTCTCCAGCATGCCAAGGATTTCAAGGAATATCACAGATCCGTCACAGGCAAAATCCAGAAGCTGACCAAGGCAGTGGCCACGTACCATGCCAACACGGAGCGGGAGCAGAAGAAAGAGAACGAGCGGATCGAGAAGGAGCGCATGCGGAGGCTCATGGTATGGTCCTGCCTTCTTGACGTGCGCTCTTCTACATGTGTAGCTGGTACTGCGGGCTCCAGGGGTCACTCCCCAGGGTTACGCCAAGGCATTTCACAGCTCGGAGTTAGAGGTGGGACAGAGGGAAAAGAGCAGGCGCGGGCTTGGGAGTCAGTCCTGGGCTCGGATATTTGCTGATCTCTCTGATCATCAGAATGACTGTGTGACCTCAGGCCACTTAGCCGGCTCCTCTGCCTTCTCTGGAAAATGGAGGTGGTGCCCCCTTCCCTCGTTCTGTGAGAGCCAGGTGGTGTGATCCAGACCCCCGACCCCTAGCATAAACATCTCTGACCATTTATTTGTGACTGAGTCGCTGGTTGGGCAGATATTGGCAGCGTGTTCTGGGCCAGGTGCTGCTCTGTGTACGGGGACATGGCCCCTGCCTTTGTGGGGGCTCCTGGTTGTGCTTGAGGGGCAGATACGCGAATGAAGCAAACAGAGTAGTGGATGGTGACCGCTACAGTGAGGAGGGGGAAGTGGAGTGGAAGGGGAGGGACAGGGTAGTAAGTAAAAGCCTTGAAACAGAGGCCCAAAGGGTGGCCCTGATGCACAAACGCAGAGACCCAGGGAAGGAGCCCCAGGCAGTGCGGACAAAGGTTGAGGTGGCAGGCAGCCATGTGCCAGGGCAGCCGGTAGCCCTGGGCTCCCAGAACAGCGTTGTGTGGGGCAGGAGGTGAGGTCAGAGCTTACAGGGGCAGGTGGGAGGTGGGACCTTTCAGACCATTGGGAGGACTCTGGGTTGAGTTCTGATCATGAAGGGGAGCCTCACCCGGGAGGGTTTTGGCTGTGGGGTGATGTGATCTGATGTATTCTTAGAAAGGTGGGGGGCTGCTGTAGGAGGTGGTGGGAGGGATGCACCTTGGACTTGGTGGAGAGAAGGCTTCGGGTTTGGGGTGTATTTCGTGGACAGAGTGGGTAGGACTGGCTCATGGCCTCTGTAAATGGCTGCTGGCGGGACTGTCTGCCTAGCGGGTGCCCTTGGAACCTAGCCCTTGGTGGGTTTTGAGGAAATGATTCCTGAATGAGGAGTCGATTGCCGTGTGAAGGGCTGGTGGCACGGCACCCGCGTGAGCTACGCGTGCCCTCAGTGCGCTTCTGGATTGACTGGCCATGGGTGCTCACAGACATGCACATTGTGCCACCACATTGCAGTAACCCCCATGCTTTTGTAGGCTGAAGATGAGGAGGGGTACCGCAAGCTCATCGACCAGAAGAAGGACAAGCGCCTGGCCTACCTCTTGCAGCAGACAGACGAGTACGTGGCTAACCTCACGGAGCTGGTGCGGCAGCACAAGGCTGCCCAGGTCGCCAAGGAGAAAAAGAAGAAAAAGAAAAAGAAGGTGTGCTGGGCCTGGCATGGTGCCCGCCGCGGGTGGGATGGGAGCAGCCGTCTTCACGTGTGTGGCCTCAGCCTTGTGGGTCAGGGCCTGACCGTGTCTCTCTCTATTTCCAGAAGGCAGAAAATGCAGAAGGACAGACGCCTGCCATTGGGCCGGATGGCGAGGTGAGGAAGCAGGGTTTCTTGTGGAAGTATCAAGCTAGCCCTAAGGCGTTGGTCTGTTTCAGACTTTAAAACCTGTGTTCTTTTAAAATTACGAACAATGATATGTGATGATGGTGAGAATCCCAGGGTGTCCTCTGACGCCCATCCCACCCGACCCCACATCCCACATGTTGTGTTTTCTTCCAGACCTTTTTCTATGCATGTGCCACAGGATTCATCTTTCAGGTTTTACTTTGTTGTAACGTCCGACTTACAGGAGAGGTGCAAGAACCGTCCAGAGATGTCCTGTGTGTTCTTCACCCAGAGTCTCCATTTTCACGTTTTGTGTTTTGTTTTGTTTCTTTGAGACAGGGTCTCTCTGTCACCCAGGCTGGATTGCAGTGGCGGATGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTACCCTTCGAGTAGCTGGGATTACGGTTATGCCCCACCACACCCAGCTAAGTTGTTTTTTTTTTTGAGATGGAGTTTTGCTCTTTTGCCCAGGCTAGAGTAAAGTGGTGCAATCTTGGCTCATTGCAGCCTCCGCCCCGCGAGTTCAATCAATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATCCACCACCACGCCCATTTAATTTTATTTTTATTTATTTATTTATTTATTTTAGACGGAGTCTCGTTCTGTCACACAGGCTGGAGTGCAATGGCACAATCTCTGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCTACCACGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGATTTCACCGTGTTAGCCAGGATGGTTTCAATCTCCTGACCTCGTGAACATCGGCCTCCCAAAATGCTGGGATTACAGGCTTGATCCACCATGGCCAGCCAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCCAGGATTACAGGCATAAGCCACCACGCCTGGCCTAATTTTTTAAAATTTATTTTCTATAGAGACGGGGGTTCCATATGTTTTTCAGGCTAGTCTCCAATTCCTGGGCTCAGGCATCCTCCTGCCTCAGCCTCCCAAAGTGTTAGGATTATAGGCATGAGCCCCCGCACCTGGCCTTCACCTGTGTTTTTTCCTAAACTCTTTGAGAGTCAAATGCAGACGTGACAGCGCCTTACCTCCATGTAATTCATTATCTACTTCATAAAGACAAGGTTGTTTCTGCACACTGTACCGAGGTGACGGACACAGGAGGTGAACATTGGTACAGCACTGTTATCCAATCTATAGGCCTTCGTATGAGGTTTGGCCAGTTTTTCCAGTTATCTTCACAGCAGCAGAGAATCCTGGGTCACATTTAGTGGAGGTCCCTTTAGTCAGCTTTAGTCTTAAAGAGCTCCTTGTGTGTGTGTTTGTTTTTTTGCAGAGATGGGGTCTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTCGGCCTTCCAAAGGCTGTGATTATAGGCGTGAGCCACCACGCTTGGCTTCAGGCCAGCTATGTCATCCAGTGGCCCCGGACTTTGGTTTGTCTGATGTTCCTTGTGGTTGGAGTTGGGTTATGTGTCTCTGGCAGGCAGACCCAACATGGCCCTGAGTCCCTCTCAGGGTGTCATATCGAGAGTGCATGGCGGAGGTTAGCAAA 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TTGGCTGGGCTGGTCTCGAACTCCTGACCTCAGGCATTTTGTCCTCCTCAGCCTCCCAAAGCGATATTCTAGGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGGCCCCTCACCACGCCCGGCTGATTTTTTGAATTTTTTTTGTTAGTAGAGATGGGGTTTTACCATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCTAATTTTTTTATTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCTGCCTCCCAAAGCGCTGGGATTACAGGCCAATATTCTAGGTTTTAAACAAGCCTTGCGGGGAGATGTGTCCACCATGCTGCTGAAGGGTCAGCCTTCTCTTTTGTGCTTTCCTGCAGGAATACCTCAATAGCATTCTCCAGCATGCCAAGGATTTCAAGGAATATCACAGATCCGTCACAGGCAAAATCCAGAAGCTGACCAAGGCAGTGGCCACGTACCATGCCAACACGGAGCGGGAGCAGAAGAAAGAGAACGAGCGGATCGAGAAGGAGCGCATGCGGAGGCTCATGGTATGGTCCTGCCTTCTTGACGTGCGCTCTTCTACATGTGTAGCTGGTACTGCGGGCTCCAGGGGTCACTCCCCAGGGTTACGCCAAGGCATTTCACAGCTCGGAGTTAGAGGTGGGACAGAGGGAAAAGAGCAGGCGCGGGCTTGGGAGTCAGTCCTGGGCTCGGATATTTGCTGATCTCTCTGATCATCAGAATGACTGTGTGACCTCAGGCCACTTAGCCGGCTCCTCTGCCTTCTCTGGAAAATGGAGGTGGTGCCCCCTTCCCTCGTTCTGTGAGAGCCAGGTGGTGTGATCCAGACCCCCGACCCCTAGCATAAACATCTCTGACCATTTATTTGTGACTGAGTCGCTGGTTGGGCAGATATTGGCAGCGTGTTCTGGGCCAGGTGCTGCTCTGTGTACGGGGACATGGCCCCTGCCTTTGTGGGGGCTCCTGGTTGTGCTTGAGGGGCAGATACGCGAATGAAGCAAACAGAGTAGTGGATGGTGACCGCTACAGTGAGGAGGGGGAAGTGGAGTGGAAGGGGAGGGACAGGGTAGTAAGTAAAAGCCTTGAAACAGAGGCCCAAAGGGTGGCCCTGATGCACAAACGCAGAGACCCAGGGAAGGAGCCCCAGGCAGTGCGGACAAAGGTTGAGGTGGCAGGCAGCCATGTGCCAGGGCAGCCGGTAGCCCTGGGCTCCCAGAACAGCGTTGTGTGGGGCAGGAGGTGAGGTCAGAGCTTACAGGGGCAGGTGGGAGGTGGGACCTTTCAGACCATTGGGAGGACTCTGGGTTGAGTTCTGATCATGAAGGGGAGCCTCACCCGGGAGGGTTTTGGCTGTGGGGTGATGTGATCTGATGTATTCTTAGAAAGGTGGGGGGCTGCTGTAGGAGGTGGTGGGAGGGATGCACCTTGGACTTGGTGGAGAGAAGGCTTCGGGTTTGGGGTGTATTTCGTGGACAGAGTGGGTAGGACTGGCTCATGGCCTCTGTAAATGGCTGCTGGCGGGACTGTCTGCCTAGCGGGTGCCCTTGGAACCTAGCCCTTGGTGGGTTTTGAGGAAATGATTCCTGAATGAGGAGTCGATTGCCGTGTGAAGGGCTGGTGGCACGGCACCCGCGTGAGCTACGCGTGCCCTCAGTGCGCTTCTGGATTGACTGGCCATGGGTGCTCACAGACATGCACATTGTGCCACCACATTGCAGTAACCCCCATGCTTTTGTAGGCTGAAGATGAGGAGGGGTACCGCAAGCTCATCGACCAGAAGAAGGACAAGCGCCTGGCCTACCTCTTGCAGCAGACAGACAAGTACGTGGCTAACCTCACGGAGCTGGTGCGGCAGCACAAGGCTGCCCAGGTCGCCAAGGAGAAAAAGAAGAAAAAGAAAAAGAAGGTGTGCTGGGCCTGGCATGGTGCCCGCCGCGGGTGGGATGGGAGCAGCCGTCTTCACGTGTGTGGCCTCAGCCTTGTGGGTCAGGGCCTGACCGTGTCTCTCTCTATTTCCAGAAGGCAGAAAATGCAGAAGGACAGACGCCTGCCATTGGGCCGGATGGCGAGGTGAGGAAGCAGGGTTTCTTGTGGAAGTATCAAGCTAGCCCTAAGGCGTTGGTCTGTTTCAGACTTTAAAACCTGTGTTCTTTTAAAATTACGAACAATGATATGTGATGATGGTGAGAATCCCAGGGTGTCCTCTGACGCCCATCCCACCCGACCCCACATCCCACATGTTGTGTTTTCTTCCAGACCTTTTTCTATGCATGTGCCACAGGATTCATCTTTCAGGTTTTACTTTGTTGTAACGTCCGACTTACAGGAGAGGTGCAAGAACCGTCCAGAGATGTCCTGTGTGTTCTTCACCCAGAGTCTCCATTTTCACGTTTTGTGTTTTGTTTTGTTTCTTTGAGACAGGGTCTCTCTGTCACCCAGGCTGGATTGCAGTGGCGGATGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTACCCTTCGAGTAGCTGGGATTACGGTTATGCCCCACCACACCCAGCTAAGTTGTTTTTTTTTTTGAGATGGAGTTTTGCTCTTTTGCCCAGGCTAGAGTAAAGTGGTGCAATCTTGGCTCATTGCAGCCTCCGCCCCGCGAGTTCAATCAATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATCCACCACCACGCCCATTTAATTTTATTTTTATTTATTTATTTATTTATTTTAGACGGAGTCTCGTTCTGTCACACAGGCTGGAGTGCAATGGCACAATCTCTGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCTACCACGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGATTTCACCGTGTTAGCCAGGATGGTTTCAATCTCCTGACCTCGTGAACATCGGCCTCCCAAAATGCTGGGATTACAGGCTTGATCCACCATGGCCAGCCAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCCAGGATTACAGGCATAAGCCACCACGCCTGGCCTAATTTTTTAAAATTTATTTTCTATAGAGACGGGGGTTCCATATGTTTTTCAGGCTAGTCTCCAATTCCTGGGCTCAGGCATCCTCCTGCCTCAGCCTCCCAAAGTGTTAGGATTATAGGCATGAGCCCCCGCACCTGGCCTTCACCTGTGTTTTTTCCTAAACTCTTTGAGAGTCAAATGCAGACGTGACAGCGCCTTACCTCCATGTAATTCATTATCTACTTCATAAAGACAAGGTTGTTTCTGCACACTGTACCGAGGTGACGGACACAGGAGGTGAACATTGGTACAGCACTGTTATCCAATCTATAGGCCTTCGTATGAGGTTTGGCCAGTTTTTCCAGTTATCTTCACAGCAGCAGAGAATCCTGGGTCACATTTAGTGGAGGTCCCTTTAGTCAGCTTTAGTCTTAAAGAGCTCCTTGTGTGTGTGTTTGTTTTTTTGCAGAGATGGGGTCTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTCGGCCTTCCAAAGGCTGTGATTATAGGCGTGAGCCACCACGCTTGGCTTCAGGCCAGCTATGTCATCCAGTGGCCCCGGACTTTGGTTTGTCTGATGTTCCTTGTGGTTGGAGTTGGGTTATGTGTCTCTGGCAGGCAGACCCAACATGGCCCTGAGTCCCTCTCAGGGTGTCATATCGAGAGTGCATGGCGGAGGTTAGCAAA 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Task1_train_26429 | This is a variant in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Rhabdoid tumor predisposition syndrome 2 | GTCTGCATTAGCAAGCAAAATGTGCATATTTTTGTCTTCATTTGCATACATATCTCCAGTGTACATTGGTGTGCACCTTGTTATTTTCACTGAACCTTCCCTCTTGGAGGTCATCCTGTGTCCGTGCAGAGTGCTTCCAGTCTGGTCCTCAGCGTGCAGTGTCATACTGCGTCACGTTATATTCTCATTTTCGTAGCCTGTCCTTTGGTGACAAGCGTTTAGGTTATATTTGTCATCTTTTGCTCCTGTAACACATCACAGTTAACACAGTAATCTCTTCATTGCTTATGGTAAGGAATTAATAGATCCTGTTAAAAAGCAAGTGAGGGCTGGGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACTTGGTGAAACCGCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGTGCACCTGGAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAAATGGGGAGGAGGAGGCTGCAGTGAGCTGAGATAGCGCCACTGCACTCTAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAATGTAGGTGGATAAAAGTCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCTTCACCAGGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGTGATTCTCTTGCCTCGGCCTCCTGAGTAGCTGGCACAACAGGCGCGGGCCACCACGTCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCATGATCTACCCACTTTGAGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCAGAGTTACTTTTTAAAAGAAAAACATTCAGATTAGATTACAAATTGCCTAAGTTTTAACAGCTCTGGTTTTGTATGAACCTGTTCAGTCTGTGTTTCTTTTCACCTTTAGGCTCATGAATTGTTCTTAGAAAGGGTGGGTTCTATGATGATCAGCATCTGGCTAGGTGCAGAGTGTCTTTCTGTGCTGTGGCAAGTGACAGCATTCTATTTGTTGTTTTGAGACAGTCTTGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCTTGACTCACTGCAGCCTCTGCCTCCGGGCTTAAGTGTTTCTTTTACCTCAGCCTCCTGAGTAGCTGGGGTTACAGGCATGCACCACCACGCCCGGCTAACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCTCTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTAGAATTCCTGACCTCAGGTGATCCACATGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACTGTGCCCAGCCTAATTTTTGTTTTTTGTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGGCCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGTTGAAATTACAGGCGTGAGCCACCACGCCCATCAGAGTGACAGAATTCTTGTACTGTGGTGGTGCAATCAGGACCCAGAGCTCCCAGGAGTCCAGTCTGGACCCCTCAGGCTTAGTGCGGGCTGCCCTGCCTGGCCTCACACTGTCCGGCTGCACCTCTATGTGTCTTACAGTGCTGGCCACAGGTCATTCAGCAGAAAGGGCCACTCCGCAGAGCTTGTGTCAGGAGCCAGCACATTGTCACAGATAGGAATGTGTGTCCTTACCCGGCACCTCCATCTCACTCCCAGGAATGCCAAGCAAGATGTCGATGATGAATATGGCGTGTCCCAGGCCCTTGCACGTGGCCTGCAGTCCTACTATGCCGTGGCCCATGCTGTCACTGAGAGAGTGGACAAGCAGTCAGCGCTTATGGTCAATGGTGTCCTCAAACAGTACCAGGTGAGGTAGGGGGTGGGGAGGCCACCGCCACGTAGCTGCCTCGGTGCAGGTGTTCCCAGGTGGTGCGGGCTTCAGACCTCAGGCAGACCTGAGTTCACCTTTTGCTCTTTGTGGGCAATGCACTCTTCCCCTCTGAGCCTCGGTTTCCCCATGTGTAAAGCAGAGATGTGGTCTGGTAGGTTAGCTGCCAGGAGGACGTGCAACAGCAGAAAGTCAGTGTCTACTGGGTGCCCGATGTGCCAGGCAGAGTGGGAGCGATTTGCACTCCAGTGGCCTCACAGAGGAGACGGGGCCACCTGAGGAGCAGAGAGGTGCAGCACCTCCTCAGCATCGCACCGTGTGTAGGACTGAACCAGGGCCGGAGCTCAGATCTGGGCATCTGCATGCTCAGGACAGGTTACCTGAGCTCTGTGTGGTGTGAAACGGCGAGCGTCAGGAGCTTAGATCTAGGAGCCGGCAGCCCTGGACTCCGCTCTTTCTTCTGGGGATGAGGTAGCAGGTCCTGTGTGAGGGTGAAAAGTTGGTGGCTCTGAAGCTCTTCACCTGGGCCTGACTTGGGACAGTCACGAAACAGAGCTGCTCATGCTCTTAATGCGGCCTGCCATCCAGAGCTCATTACAAGGCCCCACAAGACAACCAGTACAACTCCAACCAAAGAACAGCTCTCTCTGGTTTTCAATTTGGTTGTTTCTTTTCTTTTCTTTTTTTTTTTTGAAACGGAGCCTCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGACTCCTGAGTAGCTGGGACTACAAGTGCGTGCCATCACGCCCGGCTAGTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTCGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTAAGCCAGTGCACCCAGCCCCAACTTTCTTTAAGACAACTCTTAAACCTTTTGTGCTAGTATCAACATTCAAAGCTGCACATGCACCTATAGTCCCAGCTACTTAAGAGGCTGAGATGGGAGGATCGCATGAGCCCAGGAGTTGAAAGTGGGCCTGGGCAACATAGTGAGACACTGCCTCTACAAAAATATTTTAAAAATTAGCTGGGGGTGGTAGCACACATCTGTAGTCCCAGATAGTTGGGCGGCTTAGGTGGGAGGAGAGCCCGAGCCCAGGACTTCTGAGCTGTAGCGCCCTATGTCGATCAGGTGTCTGTACTAAGTTCAGCATGAATATGATGACCTTCCAGGAGTGGGGCACCACCAGGTGGCCTAAGGAGGAGCGAATCTGCCCAGGTCAGAAATGGAGCAGGTCAAAACTGATGTGCTGATCCGTAGTGAGATAGTCCCTGTGAAGAGCCACTGCACTCCAGCCTGGGTGGCATAGCGAGACCCCATCTCTATAAAACAATAATGAAACAAAGGCAAAGCTCATGGTTAGTGGAATTTTCCAAGAGTCCCATGCAATTAAAATAATTAGAACTTGGCTAGGCGCAGTGGCTCATGGCTGTGATGCCAGCACTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGATGAGACCCTGTCTCTACCGAAAATACAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGGGCCACTGCACTCCAGCTTGGGTGAGAGTGAGACTCGGTCTCAAAAAAAAAAAAATGAATTAGAACTTGGCCAGAACTTACTTCCTCAATCCATTACGAACATTTCCAAATTTTCCTTCATAACGTTATCTTCAG 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GTCTGCATTAGCAAGCAAAATGTGCATATTTTTGTCTTCATTTGCATACATATCTCCAGTGTACATTGGTGTGCACCTTGTTATTTTCACTGAACCTTCCCTCTTGGAGGTCATCCTGTGTCCGTGCAGAGTGCTTCCAGTCTGGTCCTCAGCGTGCAGTGTCATACTGCGTCACGTTATATTCTCATTTTCGTAGCCTGTCCTTTGGTGACAAGCGTTTAGGTTATATTTGTCATCTTTTGCTCCTGTAACACATCACAGTTAACACAGTAATCTCTTCATTGCTTATGGTAAGGAATTAATAGATCCTGTTAAAAAGCAAGTGAGGGCTGGGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACTTGGTGAAACCGCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGTGCACCTGGAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAAATGGGGAGGAGGAGGCTGCAGTGAGCTGAGATAGCGCCACTGCACTCTAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAATGTAGGTGGATAAAAGTCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCTTCACCAGGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGTGATTCTCTTGCCTCGGCCTCCTGAGTAGCTGGCACAACAGGCGCGGGCCACCACGTCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCATGATCTACCCACTTTGAGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCAGAGTTACTTTTTAAAAGAAAAACATTCAGATTAGATTACAAATTGCCTAAGTTTTAACAGCTCTGGTTTTGTATGAACCTGTTCAGTCTGTGTTTCTTTTCACCTTTAGGCTCATGAATTGTTCTTAGAAAGGGTGGGTTCTATGATGATCAGCATCTGGCTAGGTGCAGAGTGTCTTTCTGTGCTGTGGCAAGTGACAGCATTCTATTTGTTGTTTTGAGACAGTCTTGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCTTGACTCACTGCAGCCTCTGCCTCCGGGCTTAAGTGTTTCTTTTACCTCAGCCTCCTGAGTAGCTGGGGTTACAGGCATGCACCACCACGCCCGGCTAACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCTCTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTAGAATTCCTGACCTCAGGTGATCCACATGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACTGTGCCCAGCCTAATTTTTGTTTTTTGTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGGCCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGTTGAAATTACAGGCGTGAGCCACCACGCCCATCAGAGTGACAGAATTCTTGTACTGTGGTGGTGCAATCAGGACCCAGAGCTCCCAGGAGTCCAGTCTGGACCCCTCAGGCTTAGTGCGGGCTGCCCTGCCTGGCCTCACACTGTCCGGCTGCACCTCTATGTGTCTTACAGTGCTGGCCACAGGTCATTCAGCAGAAAGGGCCACTCCGCAGAGCTTGTGTCAGGAGCCAGCACATTGTCACAGATAGGAATGTGTGTCCTTACCCGGCACCTCCATCTCACTCCCAGGAATGCCAAGCAAGATGTCGATGATGAATATGACGTGTCCCAGGCCCTTGCACGTGGCCTGCAGTCCTACTATGCCGTGGCCCATGCTGTCACTGAGAGAGTGGACAAGCAGTCAGCGCTTATGGTCAATGGTGTCCTCAAACAGTACCAGGTGAGGTAGGGGGTGGGGAGGCCACCGCCACGTAGCTGCCTCGGTGCAGGTGTTCCCAGGTGGTGCGGGCTTCAGACCTCAGGCAGACCTGAGTTCACCTTTTGCTCTTTGTGGGCAATGCACTCTTCCCCTCTGAGCCTCGGTTTCCCCATGTGTAAAGCAGAGATGTGGTCTGGTAGGTTAGCTGCCAGGAGGACGTGCAACAGCAGAAAGTCAGTGTCTACTGGGTGCCCGATGTGCCAGGCAGAGTGGGAGCGATTTGCACTCCAGTGGCCTCACAGAGGAGACGGGGCCACCTGAGGAGCAGAGAGGTGCAGCACCTCCTCAGCATCGCACCGTGTGTAGGACTGAACCAGGGCCGGAGCTCAGATCTGGGCATCTGCATGCTCAGGACAGGTTACCTGAGCTCTGTGTGGTGTGAAACGGCGAGCGTCAGGAGCTTAGATCTAGGAGCCGGCAGCCCTGGACTCCGCTCTTTCTTCTGGGGATGAGGTAGCAGGTCCTGTGTGAGGGTGAAAAGTTGGTGGCTCTGAAGCTCTTCACCTGGGCCTGACTTGGGACAGTCACGAAACAGAGCTGCTCATGCTCTTAATGCGGCCTGCCATCCAGAGCTCATTACAAGGCCCCACAAGACAACCAGTACAACTCCAACCAAAGAACAGCTCTCTCTGGTTTTCAATTTGGTTGTTTCTTTTCTTTTCTTTTTTTTTTTTGAAACGGAGCCTCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGACTCCTGAGTAGCTGGGACTACAAGTGCGTGCCATCACGCCCGGCTAGTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTCGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTAAGCCAGTGCACCCAGCCCCAACTTTCTTTAAGACAACTCTTAAACCTTTTGTGCTAGTATCAACATTCAAAGCTGCACATGCACCTATAGTCCCAGCTACTTAAGAGGCTGAGATGGGAGGATCGCATGAGCCCAGGAGTTGAAAGTGGGCCTGGGCAACATAGTGAGACACTGCCTCTACAAAAATATTTTAAAAATTAGCTGGGGGTGGTAGCACACATCTGTAGTCCCAGATAGTTGGGCGGCTTAGGTGGGAGGAGAGCCCGAGCCCAGGACTTCTGAGCTGTAGCGCCCTATGTCGATCAGGTGTCTGTACTAAGTTCAGCATGAATATGATGACCTTCCAGGAGTGGGGCACCACCAGGTGGCCTAAGGAGGAGCGAATCTGCCCAGGTCAGAAATGGAGCAGGTCAAAACTGATGTGCTGATCCGTAGTGAGATAGTCCCTGTGAAGAGCCACTGCACTCCAGCCTGGGTGGCATAGCGAGACCCCATCTCTATAAAACAATAATGAAACAAAGGCAAAGCTCATGGTTAGTGGAATTTTCCAAGAGTCCCATGCAATTAAAATAATTAGAACTTGGCTAGGCGCAGTGGCTCATGGCTGTGATGCCAGCACTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGATGAGACCCTGTCTCTACCGAAAATACAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGGGCCACTGCACTCCAGCTTGGGTGAGAGTGAGACTCGGTCTCAAAAAAAAAAAAATGAATTAGAACTTGGCCAGAACTTACTTCCTCAATCCATTACGAACATTTCCAAATTTTCCTTCATAACGTTATCTTCAG 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Task1_train_26430 | The gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Inborn genetic diseases | AGATCTAGGAGCCGGCAGCCCTGGACTCCGCTCTTTCTTCTGGGGATGAGGTAGCAGGTCCTGTGTGAGGGTGAAAAGTTGGTGGCTCTGAAGCTCTTCACCTGGGCCTGACTTGGGACAGTCACGAAACAGAGCTGCTCATGCTCTTAATGCGGCCTGCCATCCAGAGCTCATTACAAGGCCCCACAAGACAACCAGTACAACTCCAACCAAAGAACAGCTCTCTCTGGTTTTCAATTTGGTTGTTTCTTTTCTTTTCTTTTTTTTTTTTGAAACGGAGCCTCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGACTCCTGAGTAGCTGGGACTACAAGTGCGTGCCATCACGCCCGGCTAGTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTCGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTAAGCCAGTGCACCCAGCCCCAACTTTCTTTAAGACAACTCTTAAACCTTTTGTGCTAGTATCAACATTCAAAGCTGCACATGCACCTATAGTCCCAGCTACTTAAGAGGCTGAGATGGGAGGATCGCATGAGCCCAGGAGTTGAAAGTGGGCCTGGGCAACATAGTGAGACACTGCCTCTACAAAAATATTTTAAAAATTAGCTGGGGGTGGTAGCACACATCTGTAGTCCCAGATAGTTGGGCGGCTTAGGTGGGAGGAGAGCCCGAGCCCAGGACTTCTGAGCTGTAGCGCCCTATGTCGATCAGGTGTCTGTACTAAGTTCAGCATGAATATGATGACCTTCCAGGAGTGGGGCACCACCAGGTGGCCTAAGGAGGAGCGAATCTGCCCAGGTCAGAAATGGAGCAGGTCAAAACTGATGTGCTGATCCGTAGTGAGATAGTCCCTGTGAAGAGCCACTGCACTCCAGCCTGGGTGGCATAGCGAGACCCCATCTCTATAAAACAATAATGAAACAAAGGCAAAGCTCATGGTTAGTGGAATTTTCCAAGAGTCCCATGCAATTAAAATAATTAGAACTTGGCTAGGCGCAGTGGCTCATGGCTGTGATGCCAGCACTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGATGAGACCCTGTCTCTACCGAAAATACAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGGGCCACTGCACTCCAGCTTGGGTGAGAGTGAGACTCGGTCTCAAAAAAAAAAAAATGAATTAGAACTTGGCCAGAACTTACTTCCTCAATCCATTACGAACATTTCCAAATTTTCCTTCATAACGTTATCTTCAGTTTGCAAATAGTCTTCTGTTTAAGGCCTGTATTTCAGAAAGCTCCCAGGCTTTGGAAATCCCTCTCTTAATCTTGAAATGATGTTCAGGCAGTGAATTCCTCACGAAGTCGCCCTGAAGCCCTCTTGGTTTCCTGAGTGCAAGTGTCCCGTGGTGTGGGCAGGTTTTTCCTGTGTGCTGTGTGGGGCATGGACAGGCAGACAATGTAACAGGTGGGAGTGAGCTGTTGAGATGTGTATTAGAAATGTCACACGTGTCCATCGTTCGCACAGTCATCCTGCAGCTTCACAGACGTTATTGCTAAGGATGAGGCTAAGCGATAAAGAATCAGTTTGGTTCAGAGGAAAAATCCGTGGTAAAGGCAGTAGAGGGTGGGATGTGGCTTAGGCAGAACTCGTGGCTGGCGGTGTCTTGACTCTCTGAAGTGGGAGGACCCTCTGGTGTCCGACCCGGCCTTCAGTCCTGGCGTGGCCGCATCTGTCCTTGCAGATCAAAGGTTTGGAGTGGCTGGTGTCCCTGTACAACAACAACCTGAACGGCATCCTGGCCGACGAGATGGGCCTGGGGAAGACCATCCAGACCATCGCGCTCATCACGTACCTCATGGAGCACAAACGCATCAATGGGCCCTTCCTCATCATCGTGCCTCTCTCGTGAGTACCCGCTGCCAGCAACATCCCACACGCCGCTCACACGCTCCTGTGTTTGTTTCCTAAGTTTGCCGCAGTAGAATACCACAAACGAGGTGGCTTAATTACAGAAATTTGTTTTCCTGGAGGCCAGAAGTCCAGGGTCAAGGTGTAGCAGGTTGCTTCCTCCTGAGGCCTCTCTTCCTGCTTGCAGGGATACGTGCTTACATGTATCTCACTGTGTCTTCACATGGTCCTTCCTCTGTGCGTGTCTGTGTCCTCATCTCTTCTTCTTAGAAGGACATGGGTCAGGTTGGATGAGGGTGCATCCTAATGGCCTGCTTTAACTTCATTGCCTCTGTATTGGCCCTGTCTCCAGGTACAGTCGCATCCTGAGCTGCTGGGGGTCAGGACTGCTCCACCAGCCTCGGGGCTGTGCACAGCTCCACCCGTCACAGCCTCTGCCTCTGGGTCCCGGATCAAGTGGGGGCATGACTGTGCATCCCCTCCACCCCTGGGGAGGCCTGGGGTCCCTCTCCCGGGATGTCCTTGGTGTCCTTTTCAAGTCCCACAACCAGCAAAGTCCATGCAGGGGAGTCGCAGGAGACAAGAACCTCCCACTAGAAAAGTAGGGTGAGGCCATTGAGGCTCCATTGAACAGTCTCTACTTCCTCACTGTGCAGTGCCCTGCAAGGGCCACCAGAGCCCTCGGGCACATCCCAGCATGGCCCAGGTCCTTGGGCATGGTGGGATCCGGACACCCTGAGAGGCTCTCACTTGCCACTGCCTGGCTCCACCGGCCTTTTTCTCCCTGCAAACAGAGTCCGCCCCCCTGCCCACCTCTCTCGACATCTCTCTACCCAGCTCAGCCCCTGCACTAAAGGGGGACCTGCCTAGGGTTTTCCCAGAAAGCCCCAGGGCCGGCTCTTACTGGTCCAGTTCAAGTCACATGTCCAGCAAGCAGACAGTCACCGGCCTGGGGGTTAGTCTGGTCTGATTGGGCAAACTTCAGCATAGCATTTGGTCTGGCCCTAGAGCACAGCCCCTAACTCCAACCAGGCACTCATTGGGACCACTACAGCCACGAGTCAGCAGCGGACCCCCAACTCCTGGCAGGCTGGGGAGCGGCATGCCCATGCTCCAACCCCATGGGAAAATGCCCTTCTGCCTATAAGACAGCCAGGCCCCATGGGTCACACACCCATAGGGTAGGCCTGACGTCCTGACTGTTGCAGGGAGGACTGGAGGAAAGGTGAGGACCCCAGAACCCTCCCAGGTTTACTGTGGAACTGTTTCTTTCTTCTATCTCCCTGCTTCCTACGTGGCGGGTAGAACAGACTGCTCTGAAGGAGCAGGGCGTCCTTGTGCACAGCGCTGCAGGTAGCTGCACCTCCCCTCGTGGTCAGACCCAGATTGCTACAGCGTTCCTGCTGCACCTGCCTGAGCTCTGTCCCCTGTCTGTGTCTGGAGGCTGTTCCTTCCGGCTCTGCCCACCTCCTGGCTCCCCTCTGCCCTTCTTCCCCTGGAGGCTGATGGGTGCAGTGGCAGTCGCCCTCTGCAGTTCCCGATTTTCCCTCCTTTCACTTACAGACTTCTCAGATCACCATCTCTGCTGGAACGCCGCTCTCCAGGGTGCTGTTGTTTTGCAGCCTTGGTTCTTAGTTGTTAATTTTTTGCTTTAAAAAATTTTTTTAAACTTTTCATTTTGAAATGATCTCATTTATTTTTATTTTTTTTTATTTTTTGAGGAGTCTCGCACTGTTGACCAGCCTGGAGTGCAGTGGTGCCATCTTGGTTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAGAGGCACGCGCCACCATGTCCGGCTAACTTTTTTGCATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGCTAGGCTGGTCTTGAACTCCTGACCCCATGATCTGCCCGCCTTGGCCT 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AGATCTAGGAGCCGGCAGCCCTGGACTCCGCTCTTTCTTCTGGGGATGAGGTAGCAGGTCCTGTGTGAGGGTGAAAAGTTGGTGGCTCTGAAGCTCTTCACCTGGGCCTGACTTGGGACAGTCACGAAACAGAGCTGCTCATGCTCTTAATGCGGCCTGCCATCCAGAGCTCATTACAAGGCCCCACAAGACAACCAGTACAACTCCAACCAAAGAACAGCTCTCTCTGGTTTTCAATTTGGTTGTTTCTTTTCTTTTCTTTTTTTTTTTTGAAACGGAGCCTCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGACTCCTGAGTAGCTGGGACTACAAGTGCGTGCCATCACGCCCGGCTAGTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTCGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTAAGCCAGTGCACCCAGCCCCAACTTTCTTTAAGACAACTCTTAAACCTTTTGTGCTAGTATCAACATTCAAAGCTGCACATGCACCTATAGTCCCAGCTACTTAAGAGGCTGAGATGGGAGGATCGCATGAGCCCAGGAGTTGAAAGTGGGCCTGGGCAACATAGTGAGACACTGCCTCTACAAAAATATTTTAAAAATTAGCTGGGGGTGGTAGCACACATCTGTAGTCCCAGATAGTTGGGCGGCTTAGGTGGGAGGAGAGCCCGAGCCCAGGACTTCTGAGCTGTAGCGCCCTATGTCGATCAGGTGTCTGTACTAAGTTCAGCATGAATATGATGACCTTCCAGGAGTGGGGCACCACCAGGTGGCCTAAGGAGGAGCGAATCTGCCCAGGTCAGAAATGGAGCAGGTCAAAACTGATGTGCTGATCCGTAGTGAGATAGTCCCTGTGAAGAGCCACTGCACTCCAGCCTGGGTGGCATAGCGAGACCCCATCTCTATAAAACAATAATGAAACAAAGGCAAAGCTCATGGTTAGTGGAATTTTCCAAGAGTCCCATGCAATTAAAATAATTAGAACTTGGCTAGGCGCAGTGGCTCATGGCTGTGATGCCAGCACTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGATGAGACCCTGTCTCTACCGAAAATACAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGGGCCACTGCACTCCAGCTTGGGTGAGAGTGAGACTCGGTCTCAAAAAAAAAAAAATGAATTAGAACTTGGCCAGAACTTACTTCCTCAATCCATTACGAACATTTCCAAATTTTCCTTCATAACGTTATCTTCAGTTTGCAAATAGTCTTCTGTTTAAGGCCTGTATTTCAGAAAGCTCCCAGGCTTTGGAAATCCCTCTCTTAATCTTGAAATGATGTTCAGGCAGTGAATTCCTCACGAAGTCGCCCTGAAGCCCTCTTGGTTTCCTGAGTGCAAGTGTCCCGTGGTGTGGGCAGGTTTTTCCTGTGTGCTGTGTGGGGCATGGACAGGCAGACAATGTAACAGGTGGGAGTGAGCTGTTGAGATGTGTATTAGAAATGTCACACGTGTCCATCGTTCGCACAGTCATCCTGCAGCTTCACAGACGTTATTGCTAAGGATGAGGCTAAGCGATAAAGAATCAGTTTGGTTCAGAGGAAAAATCCGTGGTAAAGGCAGTAGAGGGTGGGATGTGGCTTAGGCAGAACTCGTGGCTGGCGGTGTCTTGACTCTCTGAAGTGGGAGGACCCTCTGGTGTCCGACCCGGCCTTCAGTCCTGGCGTGGCCGCATCTGTCCTTGCAGATCAAAGGTTTGGAGTGGCTGGTGTCCCTGTACAACAACAACCTGAACGGCATCCTGGCCGACGAGATGGGCCCGGGGAAGACCATCCAGACCATCGCGCTCATCACGTACCTCATGGAGCACAAACGCATCAATGGGCCCTTCCTCATCATCGTGCCTCTCTCGTGAGTACCCGCTGCCAGCAACATCCCACACGCCGCTCACACGCTCCTGTGTTTGTTTCCTAAGTTTGCCGCAGTAGAATACCACAAACGAGGTGGCTTAATTACAGAAATTTGTTTTCCTGGAGGCCAGAAGTCCAGGGTCAAGGTGTAGCAGGTTGCTTCCTCCTGAGGCCTCTCTTCCTGCTTGCAGGGATACGTGCTTACATGTATCTCACTGTGTCTTCACATGGTCCTTCCTCTGTGCGTGTCTGTGTCCTCATCTCTTCTTCTTAGAAGGACATGGGTCAGGTTGGATGAGGGTGCATCCTAATGGCCTGCTTTAACTTCATTGCCTCTGTATTGGCCCTGTCTCCAGGTACAGTCGCATCCTGAGCTGCTGGGGGTCAGGACTGCTCCACCAGCCTCGGGGCTGTGCACAGCTCCACCCGTCACAGCCTCTGCCTCTGGGTCCCGGATCAAGTGGGGGCATGACTGTGCATCCCCTCCACCCCTGGGGAGGCCTGGGGTCCCTCTCCCGGGATGTCCTTGGTGTCCTTTTCAAGTCCCACAACCAGCAAAGTCCATGCAGGGGAGTCGCAGGAGACAAGAACCTCCCACTAGAAAAGTAGGGTGAGGCCATTGAGGCTCCATTGAACAGTCTCTACTTCCTCACTGTGCAGTGCCCTGCAAGGGCCACCAGAGCCCTCGGGCACATCCCAGCATGGCCCAGGTCCTTGGGCATGGTGGGATCCGGACACCCTGAGAGGCTCTCACTTGCCACTGCCTGGCTCCACCGGCCTTTTTCTCCCTGCAAACAGAGTCCGCCCCCCTGCCCACCTCTCTCGACATCTCTCTACCCAGCTCAGCCCCTGCACTAAAGGGGGACCTGCCTAGGGTTTTCCCAGAAAGCCCCAGGGCCGGCTCTTACTGGTCCAGTTCAAGTCACATGTCCAGCAAGCAGACAGTCACCGGCCTGGGGGTTAGTCTGGTCTGATTGGGCAAACTTCAGCATAGCATTTGGTCTGGCCCTAGAGCACAGCCCCTAACTCCAACCAGGCACTCATTGGGACCACTACAGCCACGAGTCAGCAGCGGACCCCCAACTCCTGGCAGGCTGGGGAGCGGCATGCCCATGCTCCAACCCCATGGGAAAATGCCCTTCTGCCTATAAGACAGCCAGGCCCCATGGGTCACACACCCATAGGGTAGGCCTGACGTCCTGACTGTTGCAGGGAGGACTGGAGGAAAGGTGAGGACCCCAGAACCCTCCCAGGTTTACTGTGGAACTGTTTCTTTCTTCTATCTCCCTGCTTCCTACGTGGCGGGTAGAACAGACTGCTCTGAAGGAGCAGGGCGTCCTTGTGCACAGCGCTGCAGGTAGCTGCACCTCCCCTCGTGGTCAGACCCAGATTGCTACAGCGTTCCTGCTGCACCTGCCTGAGCTCTGTCCCCTGTCTGTGTCTGGAGGCTGTTCCTTCCGGCTCTGCCCACCTCCTGGCTCCCCTCTGCCCTTCTTCCCCTGGAGGCTGATGGGTGCAGTGGCAGTCGCCCTCTGCAGTTCCCGATTTTCCCTCCTTTCACTTACAGACTTCTCAGATCACCATCTCTGCTGGAACGCCGCTCTCCAGGGTGCTGTTGTTTTGCAGCCTTGGTTCTTAGTTGTTAATTTTTTGCTTTAAAAAATTTTTTTAAACTTTTCATTTTGAAATGATCTCATTTATTTTTATTTTTTTTTATTTTTTGAGGAGTCTCGCACTGTTGACCAGCCTGGAGTGCAGTGGTGCCATCTTGGTTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAGAGGCACGCGCCACCATGTCCGGCTAACTTTTTTGCATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGCTAGGCTGGTCTTGAACTCCTGACCCCATGATCTGCCCGCCTTGGCCT 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Task1_train_26431 | A variant was discovered on Chromosome 19, affecting SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Intellectual disability, autosomal dominant 16 | TGGTTTTGGGAACCAAGACCTGGGTCCTGGATGGGCCTGTTGCTTCTGGGGTGTCATTGCTCCTGGGGCCCTCTCAGTGGTCAGTGCTAGGAGATTCATGTGCGCGTGCTGATGCTTTGTGCACGTATCGTCTAAAAGGCCTTCTCTGCCTCGGCATCTGTTTCTGTGTTAAGCTGAACGTGAGTTCATACCACTGTCTGCGGCTCTGAGTGAGGACCACAGGTTCCTTCTCACACTTCCACCCTGTGTGTGCGCCCATTCTCAGCTTCCGTGGACAACAGTTTCAGAGTAGTGAGCCGGTACCTCCGGGAAGCATCTTGAGCCACTAGAGCGCAGGCCTTGGGGCCAGTTCCTTGTGTGTTCAGACCTCCAGATTGCAGTCAGATTCCATTTCCAGGGTGATAGAGGTCACCTTCTTCCCCTACTTCAGTGAGGTTGTGAGGTGGGTGCTCCTGCAGTCTTTCCCACTGCGCCCCACCTGGGCAAGCGTCCATGCTGTGGAACGCCAGCTCCTGCAGGCCAGAAGAGGGCCCGCGCGCTAGGAAATGTTTACGGCGTATGGGCATCCGGCTGTGCCGGCCCTCTCACTGGGAATTGCTGCCTCCTGCCATGAGCTGCTTGTCCTGCCTCCGTTTGGACCTCTGTCTCTGGGACCTGTCCCCTCAGTCCCCTCCTGACCCTTGCTCCTGGCTCTTCTCCCTCCCAGTGCAGATGCTCCGCACACCTCCGGCTTCTCCCTTGGTGCGCTGACTGTCCCCATCACTCCAGGGAGGTTTCACTGTTCCTGAGTCAGCGGAAGCACAGGGTCAGGCCCTACGGGCCAGGTCCGGTGGCTCCAAGATGCCATCAGGGACCCAGCCTCCCCCAGGTTTCTGCCCAGTCATTCTTGGGTGACTCCAACCCTCAGGCTCCTTACCTCATGGTTGCAGGACGGCTGCACTGCCTCCCTCGCCTCATGCAGGAGAGTGGGCAGGAAAGAGTTCTAGGAGAGTGGGCAGGGCAAAAGGCAGCAGAAGCGCAAGGCTGCTGAGCCTCTGCTCCCCACGCTTCTTCAGGAACTCTCCCCAGCCTTCACCACAGCCATGCGTCCTTCTGTCTATTGGCTGTGCCGCCTGGTTGGCTGTGGCTTCCAGCGGGGCTGGAGATGGGTTCATGGTGGACACAGCACCTCCCTCGTGGAGCTGCTTGGGGGCAAACCACGAGTAGTCCCTGGGACTCCAGCTTCGAGCCCTGTCTTTACGGACCACCCCGTCTAGACTTTCTGAGTGGCTTCCCTCCCCCACTGAAAACTCCCTGCCCCAGAGTTCCTCCCAGAGCCCGTCCCCTTTGGGACTCAGCTTTATTACCGCCTCCACCCTCTCCTCAGTCTCTAGGCTGTCGGTCTCAGGTGACTCACCCCTCCCCACTGCATTCTGCCTGCCCCCATGTCCTCCCTCATTCCAGCCCTGGTCATCCCACAGGGGAACAGCCACGAGTTGCCGCTCCCTCCCATCCCTGTCCTCCCGCCTGCCACCTGAGCCAGGCCCCGCCTCGCCCCTCACTGTCCTCGTTCTCTCTCACAGTCAGGAACCTTCCGTGGCTGGAGGGTGGCAGAAAGACTGTTTGGTGTCTCCTATATCCTCAGGTCTCCACAGCACTGTTGCTAGCCTGGCTCTGGGCGTGAAGCCTGTGCTCTGAAGCTGCATTTTCCCGGCAGCAGGTCCAGGCTTCCCCAGCCCTGGCAGCATTGTTTCTGTCCCCCATCACATCTCTGTGTCCCTACTTCTCACTCTAAAGGGCCTTGCCCTCTTTTCCCAGTGGCCTCCCTTCTGTCCTCTGAGGCAGAGCCCTTCACGTCCTCGCCAGTCTCTCTTCCTCCCTCCCTCCCTCAGCTGCCCTAAACACAGTTTCTCTGCCCACTCGGAGGGCTGTGGCCATGTTGGCCTCGCCCCTGACAGCCAGTGGCTATGGGTTTGCACAGTGAGCCATTGATGAGAGACCGGCACTTGACTCTCATTTCCTTGTTCCATCAGAACGCTGTCCAACTGGGCGTACGAGTTTGACAAGTGGGCCCCCTCCGTGGTGAAGGTGTCTTACAAGGTAGGTCACAGCCACTGAGGTTTCCTCTCTTGCTACGGAGGTGCAGGCGGTGGTGGGCAGGACGTCCACACATACCTCTGGACAGTGAACCTGAGAATGCTGGGTCTCCAGTCGCATGGAGTCTCCAGGACAGCCTGGAACTCCAGTCACATGGATCCGGGAGTTTGGACTGGGCAGGGACAGGGCAGATTAGCTCACTGGGGAGGAGACAGGAGTGAGCATGGTGGCCAGCACTCAGAGGCCAGCTCAGGCGCCTGAGATGGGGACCCAGGAAGAGGGGAGCCTGTCAGCCACCAGGAATGTGCAGATGGCGGTGCAGGCTGCGTGGTTCCCTCAGGCCCCGGCCGCCGCTGGCCTGCACTGCTTCCTCTTCCCCCTGCAGCGCGTGTTCTGCGTGGTGAGGTCTGGGGACGCGCCAGCGGCCCTGCCAGCCCCTTTCCCCACTACCCCTGTGAGGACGAGCCCTCCCGCCGTGTCACTGGGCAGTTGCAGGGGGTGCCTGTGCCCCTCTTGCCACCTGGCCACCCGGCTCCAAAAGCCGAGCTGTGCATCCTGCTTCCCTTGCAGGGATCCCCAGCAGCAAGACGGGCCTTTGTCCCCCAGCTCCGGAGTGGGAAGTTCAACGTCTTGCTGACGACGTACGAGTACATCATCAAAGACAAGCACATCCTCGCCAAGGTAACGTGTCCCTGTGGGAAATGCCAGGCCATGGGCCGAGTGCTCACACGTGGGTCACGCTGCCCGTCTCCTCCAAAGCCCCTACAAGTTTCTTCCCGGAGTCCCACCTGCATGTGCGTGAAGACAGCTGCCCTGTGTAGGGGAAAGGCCTAGGTGGGGGCGACCTCAGGTTTACCTCCCTAACTGTCTCCAGGCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCAGACCAGTCTTGTCCTCCTGTCTCATTGCCTTGGCCGTCCCTCCCTGGGGCCCTGGCTTCTCACCACAGGCCATGGGCTGAGATTCAGCATGTGGGGGAGAGCTCGAGGGCCAAATACCATGACTGCCTGCTGGCCTTGGGCAGCTGGTTCGGGCTGTTCTGTGAGGGTCCTACTGTCCTGGAAGCCTCTTCTGGGACGAAACTGTGAAGGGAGTCCCAGCGTGGCCATGACTGAGAATACGGCCCAGATAGAAAACAGACATAGCCCTCTGCCTCCAAAAACTCATGTTCCTCATTTGAGGAGGGGTAAAGATGTACCTGGTCTCACCCCTAAACATCCAGCTGAGTGAGTGTTGAACAGTAGAGAGTTTTTTGCGTTTTGGTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTTGCCCATGCTGGAGTGCAGTGATGTGATCACAGCTCACTGCAGGCCTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCACCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACTCCCAGCTAACTTTTTTAAATTTATTTTTTATGGAGATGGGGTCTTGCTGTACTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGGAATCCTCTCGCCTTGGCCTCACAAAGCACTGGGCAACTGTGTCTGGCCTAACAGTAGAGTTCTTGACCCAGGTATGGGGGGATGGAGGAGCTGTTTATGGGTGGCTCCGCCTCTCAGTGCATGGCTGGAGTGACAGTACTGGAATACTGGGGCTGTGAACTGGGTGTTTTCTTTTCTTTTTCTCTTCTTTTTTTTTTTTATTGAGACAGAGTCTCACAGCTGTCACCCAGGCTGGAGTGCAGTGGAGCGATCTCAGCTCACTGCAACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCGAGGACTGGGTGCTTTATCCCGGAGCCAACAAGGGAGGAAACTGAGGCCCAGGGAGCTGGGTATCCCACGTGC 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TGGTTTTGGGAACCAAGACCTGGGTCCTGGATGGGCCTGTTGCTTCTGGGGTGTCATTGCTCCTGGGGCCCTCTCAGTGGTCAGTGCTAGGAGATTCATGTGCGCGTGCTGATGCTTTGTGCACGTATCGTCTAAAAGGCCTTCTCTGCCTCGGCATCTGTTTCTGTGTTAAGCTGAACGTGAGTTCATACCACTGTCTGCGGCTCTGAGTGAGGACCACAGGTTCCTTCTCACACTTCCACCCTGTGTGTGCGCCCATTCTCAGCTTCCGTGGACAACAGTTTCAGAGTAGTGAGCCGGTACCTCCGGGAAGCATCTTGAGCCACTAGAGCGCAGGCCTTGGGGCCAGTTCCTTGTGTGTTCAGACCTCCAGATTGCAGTCAGATTCCATTTCCAGGGTGATAGAGGTCACCTTCTTCCCCTACTTCAGTGAGGTTGTGAGGTGGGTGCTCCTGCAGTCTTTCCCACTGCGCCCCACCTGGGCAAGCGTCCATGCTGTGGAACGCCAGCTCCTGCAGGCCAGAAGAGGGCCCGCGCGCTAGGAAATGTTTACGGCGTATGGGCATCCGGCTGTGCCGGCCCTCTCACTGGGAATTGCTGCCTCCTGCCATGAGCTGCTTGTCCTGCCTCCGTTTGGACCTCTGTCTCTGGGACCTGTCCCCTCAGTCCCCTCCTGACCCTTGCTCCTGGCTCTTCTCCCTCCCAGTGCAGATGCTCCGCACACCTCCGGCTTCTCCCTTGGTGCGCTGACTGTCCCCATCACTCCAGGGAGGTTTCACTGTTCCTGAGTCAGCGGAAGCACAGGGTCAGGCCCTACGGGCCAGGTCCGGTGGCTCCAAGATGCCATCAGGGACCCAGCCTCCCCCAGGTTTCTGCCCAGTCATTCTTGGGTGACTCCAACCCTCAGGCTCCTTACCTCATGGTTGCAGGACGGCTGCACTGCCTCCCTCGCCTCATGCAGGAGAGTGGGCAGGAAAGAGTTCTAGGAGAGTGGGCAGGGCAAAAGGCAGCAGAAGCGCAAGGCTGCTGAGCCTCTGCTCCCCACGCTTCTTCAGGAACTCTCCCCAGCCTTCACCACAGCCATGCGTCCTTCTGTCTATTGGCTGTGCCGCCTGGTTGGCTGTGGCTTCCAGCGGGGCTGGAGATGGGTTCATGGTGGACACAGCACCTCCCTCGTGGAGCTGCTTGGGGGCAAACCACGAGTAGTCCCTGGGACTCCAGCTTCGAGCCCTGTCTTTACGGACCACCCCGTCTAGACTTTCTGAGTGGCTTCCCTCCCCCACTGAAAACTCCCTGCCCCAGAGTTCCTCCCAGAGCCCGTCCCCTTTGGGACTCAGCTTTATTACCGCCTCCACCCTCTCCTCAGTCTCTAGGCTGTCGGTCTCAGGTGACTCACCCCTCCCCACTGCATTCTGCCTGCCCCCATGTCCTCCCTCATTCCAGCCCTGGTCATCCCACAGGGGAACAGCCACGAGTTGCCGCTCCCTCCCATCCCTGTCCTCCCGCCTGCCACCTGAGCCAGGCCCCGCCTCGCCCCTCACTGTCCTCGTTCTCTCTCACAGTCAGGAACCTTCCGTGGCTGGAGGGTGGCAGAAAGACTGTTTGGTGTCTCCTATATCCTCAGGTCTCCACAGCACTGTTGCTAGCCTGGCTCTGGGCGTGAAGCCTGTGCTCTGAAGCTGCATTTTCCCGGCAGCAGGTCCAGGCTTCCCCAGCCCTGGCAGCATTGTTTCTGTCCCCCATCACATCTCTGTGTCCCTACTTCTCACTCTAAAGGGCCTTGCCCTCTTTTCCCAGTGGCCTCCCTTCTGTCCTCTGAGGCAGAGCCCTTCACGTCCTCGCCAGTCTCTCTTCCTCCCTCCCTCCCTCAGCTGCCCTAAACACAGTTTCTCTGCCCACTCGGAGGGCTGTGGCCATGTTGGCCTCGCCCCTGACAGCCAGTGGCTATGGGTTTGCACAGTGAGCCATTGATGAGAGACCGGCACTTGACTCTCATTTCCTTGTTCCATCAGAACGCTGTCCAACTGGGCGTACGAGTTTGACAAGTGTGCCCCCTCCGTGGTGAAGGTGTCTTACAAGGTAGGTCACAGCCACTGAGGTTTCCTCTCTTGCTACGGAGGTGCAGGCGGTGGTGGGCAGGACGTCCACACATACCTCTGGACAGTGAACCTGAGAATGCTGGGTCTCCAGTCGCATGGAGTCTCCAGGACAGCCTGGAACTCCAGTCACATGGATCCGGGAGTTTGGACTGGGCAGGGACAGGGCAGATTAGCTCACTGGGGAGGAGACAGGAGTGAGCATGGTGGCCAGCACTCAGAGGCCAGCTCAGGCGCCTGAGATGGGGACCCAGGAAGAGGGGAGCCTGTCAGCCACCAGGAATGTGCAGATGGCGGTGCAGGCTGCGTGGTTCCCTCAGGCCCCGGCCGCCGCTGGCCTGCACTGCTTCCTCTTCCCCCTGCAGCGCGTGTTCTGCGTGGTGAGGTCTGGGGACGCGCCAGCGGCCCTGCCAGCCCCTTTCCCCACTACCCCTGTGAGGACGAGCCCTCCCGCCGTGTCACTGGGCAGTTGCAGGGGGTGCCTGTGCCCCTCTTGCCACCTGGCCACCCGGCTCCAAAAGCCGAGCTGTGCATCCTGCTTCCCTTGCAGGGATCCCCAGCAGCAAGACGGGCCTTTGTCCCCCAGCTCCGGAGTGGGAAGTTCAACGTCTTGCTGACGACGTACGAGTACATCATCAAAGACAAGCACATCCTCGCCAAGGTAACGTGTCCCTGTGGGAAATGCCAGGCCATGGGCCGAGTGCTCACACGTGGGTCACGCTGCCCGTCTCCTCCAAAGCCCCTACAAGTTTCTTCCCGGAGTCCCACCTGCATGTGCGTGAAGACAGCTGCCCTGTGTAGGGGAAAGGCCTAGGTGGGGGCGACCTCAGGTTTACCTCCCTAACTGTCTCCAGGCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCAGACCAGTCTTGTCCTCCTGTCTCATTGCCTTGGCCGTCCCTCCCTGGGGCCCTGGCTTCTCACCACAGGCCATGGGCTGAGATTCAGCATGTGGGGGAGAGCTCGAGGGCCAAATACCATGACTGCCTGCTGGCCTTGGGCAGCTGGTTCGGGCTGTTCTGTGAGGGTCCTACTGTCCTGGAAGCCTCTTCTGGGACGAAACTGTGAAGGGAGTCCCAGCGTGGCCATGACTGAGAATACGGCCCAGATAGAAAACAGACATAGCCCTCTGCCTCCAAAAACTCATGTTCCTCATTTGAGGAGGGGTAAAGATGTACCTGGTCTCACCCCTAAACATCCAGCTGAGTGAGTGTTGAACAGTAGAGAGTTTTTTGCGTTTTGGTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTTGCCCATGCTGGAGTGCAGTGATGTGATCACAGCTCACTGCAGGCCTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCACCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACTCCCAGCTAACTTTTTTAAATTTATTTTTTATGGAGATGGGGTCTTGCTGTACTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGGAATCCTCTCGCCTTGGCCTCACAAAGCACTGGGCAACTGTGTCTGGCCTAACAGTAGAGTTCTTGACCCAGGTATGGGGGGATGGAGGAGCTGTTTATGGGTGGCTCCGCCTCTCAGTGCATGGCTGGAGTGACAGTACTGGAATACTGGGGCTGTGAACTGGGTGTTTTCTTTTCTTTTTCTCTTCTTTTTTTTTTTTATTGAGACAGAGTCTCACAGCTGTCACCCAGGCTGGAGTGCAGTGGAGCGATCTCAGCTCACTGCAACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCGAGGACTGGGTGCTTTATCCCGGAGCCAACAAGGGAGGAAACTGAGGCCCAGGGAGCTGGGTATCCCACGTGC 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Task1_train_26432 | This sequence variant lies in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Rhabdoid tumor predisposition syndrome 2 | TGTGGGAAATGCCAGGCCATGGGCCGAGTGCTCACACGTGGGTCACGCTGCCCGTCTCCTCCAAAGCCCCTACAAGTTTCTTCCCGGAGTCCCACCTGCATGTGCGTGAAGACAGCTGCCCTGTGTAGGGGAAAGGCCTAGGTGGGGGCGACCTCAGGTTTACCTCCCTAACTGTCTCCAGGCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCAGACCAGTCTTGTCCTCCTGTCTCATTGCCTTGGCCGTCCCTCCCTGGGGCCCTGGCTTCTCACCACAGGCCATGGGCTGAGATTCAGCATGTGGGGGAGAGCTCGAGGGCCAAATACCATGACTGCCTGCTGGCCTTGGGCAGCTGGTTCGGGCTGTTCTGTGAGGGTCCTACTGTCCTGGAAGCCTCTTCTGGGACGAAACTGTGAAGGGAGTCCCAGCGTGGCCATGACTGAGAATACGGCCCAGATAGAAAACAGACATAGCCCTCTGCCTCCAAAAACTCATGTTCCTCATTTGAGGAGGGGTAAAGATGTACCTGGTCTCACCCCTAAACATCCAGCTGAGTGAGTGTTGAACAGTAGAGAGTTTTTTGCGTTTTGGTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTTGCCCATGCTGGAGTGCAGTGATGTGATCACAGCTCACTGCAGGCCTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCACCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACTCCCAGCTAACTTTTTTAAATTTATTTTTTATGGAGATGGGGTCTTGCTGTACTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGGAATCCTCTCGCCTTGGCCTCACAAAGCACTGGGCAACTGTGTCTGGCCTAACAGTAGAGTTCTTGACCCAGGTATGGGGGGATGGAGGAGCTGTTTATGGGTGGCTCCGCCTCTCAGTGCATGGCTGGAGTGACAGTACTGGAATACTGGGGCTGTGAACTGGGTGTTTTCTTTTCTTTTTCTCTTCTTTTTTTTTTTTATTGAGACAGAGTCTCACAGCTGTCACCCAGGCTGGAGTGCAGTGGAGCGATCTCAGCTCACTGCAACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCGAGGACTGGGTGCTTTATCCCGGAGCCAACAAGGGAGGAAACTGAGGCCCAGGGAGCTGGGTATCCCACGTGCAGGCTCTTACCTCAGGTCCATGCTTCAGGTGCCTCCTTTGTGGCTCACCCCTGCTGACTCCTTACAAAGCCAGGCCGTTGGCAGGCACAGGAACCAGGCTCTGAAACCCCGTGCTCCCCTGCCAGTGGCTCAGTTGATGTAATCACCCTGCAGTGGGAGTGCTCTTTGAGTGCGGCCACTGCGCCCCCTCCCGACCCGCATGGCCCTGTATGTAGTGGCGCTGGCCCCTACCCCATGGGGCCCACATTCTGAACCACAGGCTGCTCATTAGAAATGTACCGTCACCAACCCAGTTCCCCTGAGACCCTCCACACCAGCAGGACAAGTCCCCCAGTCAGCAAGATGTGTCTTCTGCCAGAACGTGCTCGGCATTTTTCTGTGCTGTAGATTCATATGTGTGATTTTGCAGGGAAGCCAGATTGCTTTTTTGCAATTTGCATTGTTCACCTGCCAATAGTCATGGGGTCACGGGCCTGTCTCTGCCCAAGGCTTGCAAGAGGCTACGTTGTGTGGCTCCAACTCGGTGAGTCAGCCCCGGGGCAGGACGTCAGGCCTGTGCTCTCCACCCAGCTGCGCTCTTCCACCTGGAGCCTTCCTGGCTGCTGGGCGCAGAGTGGGAGATTCTCCCCATGTGCCGGGCCACCTGCTGCCCCCTGCCCTGATTGCCCACTCTGGGGCCCGCAGATCCGTTGGAAGTACATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGCAGGTGCTCAACACGCACTATGTGGCACCCCGCCGCCTGCTGCTGACGGGCACACCGCTGCAGAACAAGCTTCCCGAGCTCTGGGCGCTGCTCAACTTCCTGCTGCCCACCATCTTCAAGAGCTGCAGCACCTTCGAGCAGTGGTTTAACGCACCCTTTGCCATGACCGGGGAAAAGGTGGGTTTGCCCAGCTGTGCCCATGCTGACGGTTCCAGGTGCGGCTGGCTTTGCTGGTTGGAACGTGTTGAGCACCAGCTACAGCTGGCTGGGCCTGTGCTGGGTGCCTGGTGAGAGTCTGCATCTGCATGGAGCAGGGGAGCCCTGGAACCCAAGGCTGGGGCAGCCACAAGGGCCCCAGGGGAGCAGGGCAGAGGTCATGGTGGTGAATCTCGGAATGCTCGGGGCGTCTCTGACCCTATGCTCCAGGTGCAGAGTGGATGGTGAGGAAGATGGCCCTGAGGCAGCTGTGGGACCGCAAGCGTGTGGAGAGCACAGCTAGAGGCTGTAGCGTGCTGTAGGCCCCTTTAGGTGCCCTCAGAACTCACCCTCAGGGCAGTGGGAAGGAAACTTGGAAGATTCCAGTTAGCGGGGCCACATGGTCAGGTTCTGTCTTACGTTGTTTTCAAAAAGCTCAGTGGCCAGTGTGTCTCAATGTCTGGGTGGCACCATCAGCCAGACTGTGGCATGGCAGCATCATCATTGATGAGTGGTCCCACACCAGCACTGATCCCTGAGCCTAGAGCTCCTTGCTGTTGGAGGTTGAAACTGTGGGACAGACTGTGTTTCCTGCTGAGGGGTTTAAGTAACCAGATGCTGAAGTGTGGGCAGAACTACAGAGGTTACCTCGAAGTGCCCTGCCCAGCACGGCTGGGCCCACCCCCTTCTTCCCACCTTAGACAGGTCCAGGGCAGCTGGGGCCTTCCTGGCCTCATGCGTGAGTTCCCTGCCCTCTCGGCTGCTGGTCAAGGCAGAGACTCTTCTGATGGCGAAACCGAGGCATTCCCCAAAGCCTCGTGATAAAGGAGTCCCCAATTTTTAGACTCCCGGGACCCCCACACTAAGGGCCAGGATCTGATGCTATAGTTTTGTCACTTTCTGAGCCGAGCAAAAGCTCTGCCAAAGGATTGCCAGGGAAGCAATAGAAGAAAAGTTTTGGCGTCGTCTCATTTTCCTTTAACTTTTTTAATTAAAACATTTTAAAAGTTAATTATTAGTAGAGGAGTAGGCGCCGTGGGAGGTCAGGGTTTCTTTCACCTGGTTCCACCCAGGCTGAATGAGAGTCCCTTGGGGCTCCCGGTGGCAGAGCCCTCCCTGAGAATCACCCGCTATAAGCCCCATGTGGTCAGCCTGGCCCCTGCAGCGCTCCTGGCATGAGCTTGGCGTGGGGTGGGTCTGTGGACACTCCAGTTTGTGTTACTCGTGGAGAAGCAGCATGCCCGCTGCCGGGGGTCTTTCTGGTGAGGCACAGGGAGCAGAGTGCTCTGGGTACTGCGGTTCCATGTCCCAGGAATTACATGGAGGGAACCAGATCCTCACAGTTTCCTAAGGAAGAGGGTGCCCTGCCTGGCTCCCAGAAAGCATAAAGCAGGCTGAAAAGCCACGTGCCAAGGGCAAGATCACCCCAGGGGACCCCGTCCACCCTGTCCCCACATCCGCACCTTCTAGTGAGACCTCTGTCGCCCTCCTTTGGAGGTAACGCTTGCTTCTCCTGTCTTGGGGGCTTCCAGGTGGACCTGAATGAGGAGGAAACCATTCTCATCATCCGGCGTCTCCACAAAGTGCTGCGGCCCTTCTTGCTCCGACGACTCAAGAAGGAAGTCGAGGCCCAGTTGCCCGAAAAGGTGATGGAGTTTTGAGGGGAGCCACCAGTGAAGCAGCCTCACGTGGGGGCTTTCTCCAGGGCTGGGCGTGCTCAGGGCCTCTCCCCACAGTCCCAGGCCTGCCCTGGTCAATCCAGCTTGGGGGTGGCGATGACGCCACTGGGTCTGTAAAGCCCTGTGCTGCTGTTGTAGGGATTGA | TGTGGGAAATGCCAGGCCATGGGCCGAGTGCTCACACGTGGGTCACGCTGCCCGTCTCCTCCAAAGCCCCTACAAGTTTCTTCCCGGAGTCCCACCTGCATGTGCGTGAAGACAGCTGCCCTGTGTAGGGGAAAGGCCTAGGTGGGGGCGACCTCAGGTTTACCTCCCTAACTGTCTCCAGGCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCAGACCAGTCTTGTCCTCCTGTCTCATTGCCTTGGCCGTCCCTCCCTGGGGCCCTGGCTTCTCACCACAGGCCATGGGCTGAGATTCAGCATGTGGGGGAGAGCTCGAGGGCCAAATACCATGACTGCCTGCTGGCCTTGGGCAGCTGGTTCGGGCTGTTCTGTGAGGGTCCTACTGTCCTGGAAGCCTCTTCTGGGACGAAACTGTGAAGGGAGTCCCAGCGTGGCCATGACTGAGAATACGGCCCAGATAGAAAACAGACATAGCCCTCTGCCTCCAAAAACTCATGTTCCTCATTTGAGGAGGGGTAAAGATGTACCTGGTCTCACCCCTAAACATCCAGCTGAGTGAGTGTTGAACAGTAGAGAGTTTTTTGCGTTTTGGTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTTGCCCATGCTGGAGTGCAGTGATGTGATCACAGCTCACTGCAGGCCTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCACCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACTCCCAGCTAACTTTTTTAAATTTATTTTTTATGGAGATGGGGTCTTGCTGTACTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGGAATCCTCTCGCCTTGGCCTCACAAAGCACTGGGCAACTGTGTCTGGCCTAACAGTAGAGTTCTTGACCCAGGTATGGGGGGATGGAGGAGCTGTTTATGGGTGGCTCCGCCTCTCAGTGCATGGCTGGAGTGACAGTACTGGAATACTGGGGCTGTGAACTGGGTGTTTTCTTTTCTTTTTCTCTTCTTTTTTTTTTTTATTGAGACAGAGTCTCACAGCTGTCACCCAGGCTGGAGTGCAGTGGAGCGATCTCAGCTCACTGCAACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCGAGGACTGGGTGCTTTATCCCGGAGCCAACAAGGGAGGAAACTGAGGCCCAGGGAGCTGGGTATCCCACGTGCAGGCTCTTACCTCAGGTCCATGCTTCAGGTGCCTCCTTTGTGGCTCACCCCTGCTGACTCCTTACAAAGCCAGGCCGTTGGCAGGCACAGGAACCAGGCTCTGAAACCCCGTGCTCCCCTGCCAGTGGCTCAGTTGATGTAATCACCCTGCAGTGGGAGTGCTCTTTGAGTGCGGCCACTGCGCCCCCTCCCGACCCGCATGGCCCTGTATGTAGTGGCGCTGGCCCCTACCCCATGGGGCCCACATTCTGAACCACAGGCTGCTCATTAGAAATGTACCGTCACCAACCCAGTTCCCCTGAGACCCTCCACACCAGCAGGACAAGTCCCCCAGTCAGCAAGATGTGTCTTCTGCCAGAACGTGCTCGGCATTTTTCTGTGCTGTAGATTCATATGTGTGATTTTGCAGGGAAGCCAGATTGCTTTTTTGCAATTTGCATTGTTCACCTGCCAATAGTCATGGGGTCACGGGCCTGTCTCTGCCCAAGGCTTGCAAGAGGCTACGTTGTGTGGCTCCAACTCGGTGAGTCAGCCCCGGGGCAGGACGTCAGGCCTGTGCTCTCCACCCAGCTGCGCTCTTCCACCTGGAGCCTTCCTGGCTGCTGGGCGCAGAGTGGGAGATTCTCCCCATGTGCCGGGCCACCTGCTGCCCCCTGCCCTGATTGCCCACTCTGGGGCCCGCAGATCCGTTGGAAGTACATGATTGTGGACGAAGGTCACCACATGAAGAACCACCACTGCAAGCTGACGCAGGTGCTCAACACGCACTATGTGGCACCCCGCCGCCTGCTGCTGACGGGCACACCGCTGCAGAACAAGCTTCCCGAGCTCTGGGCGCTGCTCAACTTCCTGCTGCCCACCATCTTCAAGAGCTGCAGCACCTTCGAGCAGTGGTTTAACGCACCCTTTGCCATGACCGGGGAAAAGGTGGGTTTGCCCAGCTGTGCCCATGCTGACGGTTCCAGGTGCGGCTGGCTTTGCTGGTTGGAACGTGTTGAGCACCAGCTACAGCTGGCTGGGCCTGTGCTGGGTGCCTGGTGAGAGTCTGCATCTGCATGGAGCAGGGGAGCCCTGGAACCCAAGGCTGGGGCAGCCACAAGGGCCCCAGGGGAGCAGGGCAGAGGTCATGGTGGTGAATCTCGGAATGCTCGGGGCGTCTCTGACCCTATGCTCCAGGTGCAGAGTGGATGGTGAGGAAGATGGCCCTGAGGCAGCTGTGGGACCGCAAGCGTGTGGAGAGCACAGCTAGAGGCTGTAGCGTGCTGTAGGCCCCTTTAGGTGCCCTCAGAACTCACCCTCAGGGCAGTGGGAAGGAAACTTGGAAGATTCCAGTTAGCGGGGCCACATGGTCAGGTTCTGTCTTACGTTGTTTTCAAAAAGCTCAGTGGCCAGTGTGTCTCAATGTCTGGGTGGCACCATCAGCCAGACTGTGGCATGGCAGCATCATCATTGATGAGTGGTCCCACACCAGCACTGATCCCTGAGCCTAGAGCTCCTTGCTGTTGGAGGTTGAAACTGTGGGACAGACTGTGTTTCCTGCTGAGGGGTTTAAGTAACCAGATGCTGAAGTGTGGGCAGAACTACAGAGGTTACCTCGAAGTGCCCTGCCCAGCACGGCTGGGCCCACCCCCTTCTTCCCACCTTAGACAGGTCCAGGGCAGCTGGGGCCTTCCTGGCCTCATGCGTGAGTTCCCTGCCCTCTCGGCTGCTGGTCAAGGCAGAGACTCTTCTGATGGCGAAACCGAGGCATTCCCCAAAGCCTCGTGATAAAGGAGTCCCCAATTTTTAGACTCCCGGGACCCCCACACTAAGGGCCAGGATCTGATGCTATAGTTTTGTCACTTTCTGAGCCGAGCAAAAGCTCTGCCAAAGGATTGCCAGGGAAGCAATAGAAGAAAAGTTTTGGCGTCGTCTCATTTTCCTTTAACTTTTTTAATTAAAACATTTTAAAAGTTAATTATTAGTAGAGGAGTAGGCGCCGTGGGAGGTCAGGGTTTCTTTCACCTGGTTCCACCCAGGCTGAATGAGAGTCCCTTGGGGCTCCCGGTGGCAGAGCCCTCCCTGAGAATCACCCGCTATAAGCCCCATGTGGTCAGCCTGGCCCCTGCAGCGCTCCTGGCATGAGCTTGGCGTGGGGTGGGTCTGTGGACACTCCAGTTTGTGTTACTCGTGGAGAAGCAGCATGCCCGCTGCCGGGGGTCTTTCTGGTGAGGCACAGGGAGCAGAGTGCTCTGGGTACTGCGGTTCCATGTCCCAGGAATTACATGGAGGGAACCAGATCCTCACAGTTTCCTAAGGAAGAGGGTGCCCTGCCTGGCTCCCAGAAAGCATAAAGCAGGCTGAAAAGCCACGTGCCAAGGGCAAGATCACCCCAGGGGACCCCGTCCACCCTGTCCCCACATCCGCACCTTCTAGTGAGACCTCTGTCGCCCTCCTTTGGAGGTAACGCTTGCTTCTCCTGTCTTGGGGGCTTCCAGGTGGACCTGAATGAGGAGGAAACCATTCTCATCATCCGGCGTCTCCACAAAGTGCTGCGGCCCTTCTTGCTCCGACGACTCAAGAAGGAAGTCGAGGCCCAGTTGCCCGAAAAGGTGATGGAGTTTTGAGGGGAGCCACCAGTGAAGCAGCCTCACGTGGGGGCTTTCTCCAGGGCTGGGCGTGCTCAGGGCCTCTCCCCACAGTCCCAGGCCTGCCCTGGTCAATCCAGCTTGGGGGTGGCGATGACGCCACTGGGTCTGTAAAGCCCTGTGCTGCTGTTGTAGGGATTGA 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Task1_train_26433 | This is a variant in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Intellectual disability, autosomal dominant 16 | GAAGACAGCTGCCCTGTGTAGGGGAAAGGCCTAGGTGGGGGCGACCTCAGGTTTACCTCCCTAACTGTCTCCAGGCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCAGACCAGTCTTGTCCTCCTGTCTCATTGCCTTGGCCGTCCCTCCCTGGGGCCCTGGCTTCTCACCACAGGCCATGGGCTGAGATTCAGCATGTGGGGGAGAGCTCGAGGGCCAAATACCATGACTGCCTGCTGGCCTTGGGCAGCTGGTTCGGGCTGTTCTGTGAGGGTCCTACTGTCCTGGAAGCCTCTTCTGGGACGAAACTGTGAAGGGAGTCCCAGCGTGGCCATGACTGAGAATACGGCCCAGATAGAAAACAGACATAGCCCTCTGCCTCCAAAAACTCATGTTCCTCATTTGAGGAGGGGTAAAGATGTACCTGGTCTCACCCCTAAACATCCAGCTGAGTGAGTGTTGAACAGTAGAGAGTTTTTTGCGTTTTGGTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTTGCCCATGCTGGAGTGCAGTGATGTGATCACAGCTCACTGCAGGCCTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCACCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACTCCCAGCTAACTTTTTTAAATTTATTTTTTATGGAGATGGGGTCTTGCTGTACTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGGAATCCTCTCGCCTTGGCCTCACAAAGCACTGGGCAACTGTGTCTGGCCTAACAGTAGAGTTCTTGACCCAGGTATGGGGGGATGGAGGAGCTGTTTATGGGTGGCTCCGCCTCTCAGTGCATGGCTGGAGTGACAGTACTGGAATACTGGGGCTGTGAACTGGGTGTTTTCTTTTCTTTTTCTCTTCTTTTTTTTTTTTATTGAGACAGAGTCTCACAGCTGTCACCCAGGCTGGAGTGCAGTGGAGCGATCTCAGCTCACTGCAACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCGAGGACTGGGTGCTTTATCCCGGAGCCAACAAGGGAGGAAACTGAGGCCCAGGGAGCTGGGTATCCCACGTGCAGGCTCTTACCTCAGGTCCATGCTTCAGGTGCCTCCTTTGTGGCTCACCCCTGCTGACTCCTTACAAAGCCAGGCCGTTGGCAGGCACAGGAACCAGGCTCTGAAACCCCGTGCTCCCCTGCCAGTGGCTCAGTTGATGTAATCACCCTGCAGTGGGAGTGCTCTTTGAGTGCGGCCACTGCGCCCCCTCCCGACCCGCATGGCCCTGTATGTAGTGGCGCTGGCCCCTACCCCATGGGGCCCACATTCTGAACCACAGGCTGCTCATTAGAAATGTACCGTCACCAACCCAGTTCCCCTGAGACCCTCCACACCAGCAGGACAAGTCCCCCAGTCAGCAAGATGTGTCTTCTGCCAGAACGTGCTCGGCATTTTTCTGTGCTGTAGATTCATATGTGTGATTTTGCAGGGAAGCCAGATTGCTTTTTTGCAATTTGCATTGTTCACCTGCCAATAGTCATGGGGTCACGGGCCTGTCTCTGCCCAAGGCTTGCAAGAGGCTACGTTGTGTGGCTCCAACTCGGTGAGTCAGCCCCGGGGCAGGACGTCAGGCCTGTGCTCTCCACCCAGCTGCGCTCTTCCACCTGGAGCCTTCCTGGCTGCTGGGCGCAGAGTGGGAGATTCTCCCCATGTGCCGGGCCACCTGCTGCCCCCTGCCCTGATTGCCCACTCTGGGGCCCGCAGATCCGTTGGAAGTACATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGCAGGTGCTCAACACGCACTATGTGGCACCCCGCCGCCTGCTGCTGACGGGCACACCGCTGCAGAACAAGCTTCCCGAGCTCTGGGCGCTGCTCAACTTCCTGCTGCCCACCATCTTCAAGAGCTGCAGCACCTTCGAGCAGTGGTTTAACGCACCCTTTGCCATGACCGGGGAAAAGGTGGGTTTGCCCAGCTGTGCCCATGCTGACGGTTCCAGGTGCGGCTGGCTTTGCTGGTTGGAACGTGTTGAGCACCAGCTACAGCTGGCTGGGCCTGTGCTGGGTGCCTGGTGAGAGTCTGCATCTGCATGGAGCAGGGGAGCCCTGGAACCCAAGGCTGGGGCAGCCACAAGGGCCCCAGGGGAGCAGGGCAGAGGTCATGGTGGTGAATCTCGGAATGCTCGGGGCGTCTCTGACCCTATGCTCCAGGTGCAGAGTGGATGGTGAGGAAGATGGCCCTGAGGCAGCTGTGGGACCGCAAGCGTGTGGAGAGCACAGCTAGAGGCTGTAGCGTGCTGTAGGCCCCTTTAGGTGCCCTCAGAACTCACCCTCAGGGCAGTGGGAAGGAAACTTGGAAGATTCCAGTTAGCGGGGCCACATGGTCAGGTTCTGTCTTACGTTGTTTTCAAAAAGCTCAGTGGCCAGTGTGTCTCAATGTCTGGGTGGCACCATCAGCCAGACTGTGGCATGGCAGCATCATCATTGATGAGTGGTCCCACACCAGCACTGATCCCTGAGCCTAGAGCTCCTTGCTGTTGGAGGTTGAAACTGTGGGACAGACTGTGTTTCCTGCTGAGGGGTTTAAGTAACCAGATGCTGAAGTGTGGGCAGAACTACAGAGGTTACCTCGAAGTGCCCTGCCCAGCACGGCTGGGCCCACCCCCTTCTTCCCACCTTAGACAGGTCCAGGGCAGCTGGGGCCTTCCTGGCCTCATGCGTGAGTTCCCTGCCCTCTCGGCTGCTGGTCAAGGCAGAGACTCTTCTGATGGCGAAACCGAGGCATTCCCCAAAGCCTCGTGATAAAGGAGTCCCCAATTTTTAGACTCCCGGGACCCCCACACTAAGGGCCAGGATCTGATGCTATAGTTTTGTCACTTTCTGAGCCGAGCAAAAGCTCTGCCAAAGGATTGCCAGGGAAGCAATAGAAGAAAAGTTTTGGCGTCGTCTCATTTTCCTTTAACTTTTTTAATTAAAACATTTTAAAAGTTAATTATTAGTAGAGGAGTAGGCGCCGTGGGAGGTCAGGGTTTCTTTCACCTGGTTCCACCCAGGCTGAATGAGAGTCCCTTGGGGCTCCCGGTGGCAGAGCCCTCCCTGAGAATCACCCGCTATAAGCCCCATGTGGTCAGCCTGGCCCCTGCAGCGCTCCTGGCATGAGCTTGGCGTGGGGTGGGTCTGTGGACACTCCAGTTTGTGTTACTCGTGGAGAAGCAGCATGCCCGCTGCCGGGGGTCTTTCTGGTGAGGCACAGGGAGCAGAGTGCTCTGGGTACTGCGGTTCCATGTCCCAGGAATTACATGGAGGGAACCAGATCCTCACAGTTTCCTAAGGAAGAGGGTGCCCTGCCTGGCTCCCAGAAAGCATAAAGCAGGCTGAAAAGCCACGTGCCAAGGGCAAGATCACCCCAGGGGACCCCGTCCACCCTGTCCCCACATCCGCACCTTCTAGTGAGACCTCTGTCGCCCTCCTTTGGAGGTAACGCTTGCTTCTCCTGTCTTGGGGGCTTCCAGGTGGACCTGAATGAGGAGGAAACCATTCTCATCATCCGGCGTCTCCACAAAGTGCTGCGGCCCTTCTTGCTCCGACGACTCAAGAAGGAAGTCGAGGCCCAGTTGCCCGAAAAGGTGATGGAGTTTTGAGGGGAGCCACCAGTGAAGCAGCCTCACGTGGGGGCTTTCTCCAGGGCTGGGCGTGCTCAGGGCCTCTCCCCACAGTCCCAGGCCTGCCCTGGTCAATCCAGCTTGGGGGTGGCGATGACGCCACTGGGTCTGTAAAGCCCTGTGCTGCTGTTGTAGGGATTGAAAAGCACTCATAGGCTCACATAGCTCACAATAGGTTAGAGCACAAAATCCCACTTCCTGTCAGGGGGCCAGGTGCCTGTGCGGGCTCTCCTGGCCACATCAGGAGGG 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GAAGACAGCTGCCCTGTGTAGGGGAAAGGCCTAGGTGGGGGCGACCTCAGGTTTACCTCCCTAACTGTCTCCAGGCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCAGACCAGTCTTGTCCTCCTGTCTCATTGCCTTGGCCGTCCCTCCCTGGGGCCCTGGCTTCTCACCACAGGCCATGGGCTGAGATTCAGCATGTGGGGGAGAGCTCGAGGGCCAAATACCATGACTGCCTGCTGGCCTTGGGCAGCTGGTTCGGGCTGTTCTGTGAGGGTCCTACTGTCCTGGAAGCCTCTTCTGGGACGAAACTGTGAAGGGAGTCCCAGCGTGGCCATGACTGAGAATACGGCCCAGATAGAAAACAGACATAGCCCTCTGCCTCCAAAAACTCATGTTCCTCATTTGAGGAGGGGTAAAGATGTACCTGGTCTCACCCCTAAACATCCAGCTGAGTGAGTGTTGAACAGTAGAGAGTTTTTTGCGTTTTGGTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTTGCCCATGCTGGAGTGCAGTGATGTGATCACAGCTCACTGCAGGCCTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCACCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACTCCCAGCTAACTTTTTTAAATTTATTTTTTATGGAGATGGGGTCTTGCTGTACTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGGAATCCTCTCGCCTTGGCCTCACAAAGCACTGGGCAACTGTGTCTGGCCTAACAGTAGAGTTCTTGACCCAGGTATGGGGGGATGGAGGAGCTGTTTATGGGTGGCTCCGCCTCTCAGTGCATGGCTGGAGTGACAGTACTGGAATACTGGGGCTGTGAACTGGGTGTTTTCTTTTCTTTTTCTCTTCTTTTTTTTTTTTATTGAGACAGAGTCTCACAGCTGTCACCCAGGCTGGAGTGCAGTGGAGCGATCTCAGCTCACTGCAACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCGAGGACTGGGTGCTTTATCCCGGAGCCAACAAGGGAGGAAACTGAGGCCCAGGGAGCTGGGTATCCCACGTGCAGGCTCTTACCTCAGGTCCATGCTTCAGGTGCCTCCTTTGTGGCTCACCCCTGCTGACTCCTTACAAAGCCAGGCCGTTGGCAGGCACAGGAACCAGGCTCTGAAACCCCGTGCTCCCCTGCCAGTGGCTCAGTTGATGTAATCACCCTGCAGTGGGAGTGCTCTTTGAGTGCGGCCACTGCGCCCCCTCCCGACCCGCATGGCCCTGTATGTAGTGGCGCTGGCCCCTACCCCATGGGGCCCACATTCTGAACCACAGGCTGCTCATTAGAAATGTACCGTCACCAACCCAGTTCCCCTGAGACCCTCCACACCAGCAGGACAAGTCCCCCAGTCAGCAAGATGTGTCTTCTGCCAGAACGTGCTCGGCATTTTTCTGTGCTGTAGATTCATATGTGTGATTTTGCAGGGAAGCCAGATTGCTTTTTTGCAATTTGCATTGTTCACCTGCCAATAGTCATGGGGTCACGGGCCTGTCTCTGCCCAAGGCTTGCAAGAGGCTACGTTGTGTGGCTCCAACTCGGTGAGTCAGCCCCGGGGCAGGACGTCAGGCCTGTGCTCTCCACCCAGCTGCGCTCTTCCACCTGGAGCCTTCCTGGCTGCTGGGCGCAGAGTGGGAGATTCTCCCCATGTGCCGGGCCACCTGCTGCCCCCTGCCCTGATTGCCCACTCTGGGGCCCGCAGATCCGTTGGAAGTACATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGCAGGTGCTCAACACGCACTATGTGGCACCCCGCCGCCTGCTGCTGACGGGCACACCGCTGCAGAACAAGCTTCCCGAGTTCTGGGCGCTGCTCAACTTCCTGCTGCCCACCATCTTCAAGAGCTGCAGCACCTTCGAGCAGTGGTTTAACGCACCCTTTGCCATGACCGGGGAAAAGGTGGGTTTGCCCAGCTGTGCCCATGCTGACGGTTCCAGGTGCGGCTGGCTTTGCTGGTTGGAACGTGTTGAGCACCAGCTACAGCTGGCTGGGCCTGTGCTGGGTGCCTGGTGAGAGTCTGCATCTGCATGGAGCAGGGGAGCCCTGGAACCCAAGGCTGGGGCAGCCACAAGGGCCCCAGGGGAGCAGGGCAGAGGTCATGGTGGTGAATCTCGGAATGCTCGGGGCGTCTCTGACCCTATGCTCCAGGTGCAGAGTGGATGGTGAGGAAGATGGCCCTGAGGCAGCTGTGGGACCGCAAGCGTGTGGAGAGCACAGCTAGAGGCTGTAGCGTGCTGTAGGCCCCTTTAGGTGCCCTCAGAACTCACCCTCAGGGCAGTGGGAAGGAAACTTGGAAGATTCCAGTTAGCGGGGCCACATGGTCAGGTTCTGTCTTACGTTGTTTTCAAAAAGCTCAGTGGCCAGTGTGTCTCAATGTCTGGGTGGCACCATCAGCCAGACTGTGGCATGGCAGCATCATCATTGATGAGTGGTCCCACACCAGCACTGATCCCTGAGCCTAGAGCTCCTTGCTGTTGGAGGTTGAAACTGTGGGACAGACTGTGTTTCCTGCTGAGGGGTTTAAGTAACCAGATGCTGAAGTGTGGGCAGAACTACAGAGGTTACCTCGAAGTGCCCTGCCCAGCACGGCTGGGCCCACCCCCTTCTTCCCACCTTAGACAGGTCCAGGGCAGCTGGGGCCTTCCTGGCCTCATGCGTGAGTTCCCTGCCCTCTCGGCTGCTGGTCAAGGCAGAGACTCTTCTGATGGCGAAACCGAGGCATTCCCCAAAGCCTCGTGATAAAGGAGTCCCCAATTTTTAGACTCCCGGGACCCCCACACTAAGGGCCAGGATCTGATGCTATAGTTTTGTCACTTTCTGAGCCGAGCAAAAGCTCTGCCAAAGGATTGCCAGGGAAGCAATAGAAGAAAAGTTTTGGCGTCGTCTCATTTTCCTTTAACTTTTTTAATTAAAACATTTTAAAAGTTAATTATTAGTAGAGGAGTAGGCGCCGTGGGAGGTCAGGGTTTCTTTCACCTGGTTCCACCCAGGCTGAATGAGAGTCCCTTGGGGCTCCCGGTGGCAGAGCCCTCCCTGAGAATCACCCGCTATAAGCCCCATGTGGTCAGCCTGGCCCCTGCAGCGCTCCTGGCATGAGCTTGGCGTGGGGTGGGTCTGTGGACACTCCAGTTTGTGTTACTCGTGGAGAAGCAGCATGCCCGCTGCCGGGGGTCTTTCTGGTGAGGCACAGGGAGCAGAGTGCTCTGGGTACTGCGGTTCCATGTCCCAGGAATTACATGGAGGGAACCAGATCCTCACAGTTTCCTAAGGAAGAGGGTGCCCTGCCTGGCTCCCAGAAAGCATAAAGCAGGCTGAAAAGCCACGTGCCAAGGGCAAGATCACCCCAGGGGACCCCGTCCACCCTGTCCCCACATCCGCACCTTCTAGTGAGACCTCTGTCGCCCTCCTTTGGAGGTAACGCTTGCTTCTCCTGTCTTGGGGGCTTCCAGGTGGACCTGAATGAGGAGGAAACCATTCTCATCATCCGGCGTCTCCACAAAGTGCTGCGGCCCTTCTTGCTCCGACGACTCAAGAAGGAAGTCGAGGCCCAGTTGCCCGAAAAGGTGATGGAGTTTTGAGGGGAGCCACCAGTGAAGCAGCCTCACGTGGGGGCTTTCTCCAGGGCTGGGCGTGCTCAGGGCCTCTCCCCACAGTCCCAGGCCTGCCCTGGTCAATCCAGCTTGGGGGTGGCGATGACGCCACTGGGTCTGTAAAGCCCTGTGCTGCTGTTGTAGGGATTGAAAAGCACTCATAGGCTCACATAGCTCACAATAGGTTAGAGCACAAAATCCCACTTCCTGTCAGGGGGCCAGGTGCCTGTGCGGGCTCTCCTGGCCACATCAGGAGGG 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Task1_train_26434 | A mutation found in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | TCTCCAGGCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCAGACCAGTCTTGTCCTCCTGTCTCATTGCCTTGGCCGTCCCTCCCTGGGGCCCTGGCTTCTCACCACAGGCCATGGGCTGAGATTCAGCATGTGGGGGAGAGCTCGAGGGCCAAATACCATGACTGCCTGCTGGCCTTGGGCAGCTGGTTCGGGCTGTTCTGTGAGGGTCCTACTGTCCTGGAAGCCTCTTCTGGGACGAAACTGTGAAGGGAGTCCCAGCGTGGCCATGACTGAGAATACGGCCCAGATAGAAAACAGACATAGCCCTCTGCCTCCAAAAACTCATGTTCCTCATTTGAGGAGGGGTAAAGATGTACCTGGTCTCACCCCTAAACATCCAGCTGAGTGAGTGTTGAACAGTAGAGAGTTTTTTGCGTTTTGGTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTTGCCCATGCTGGAGTGCAGTGATGTGATCACAGCTCACTGCAGGCCTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCACCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACTCCCAGCTAACTTTTTTAAATTTATTTTTTATGGAGATGGGGTCTTGCTGTACTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGGAATCCTCTCGCCTTGGCCTCACAAAGCACTGGGCAACTGTGTCTGGCCTAACAGTAGAGTTCTTGACCCAGGTATGGGGGGATGGAGGAGCTGTTTATGGGTGGCTCCGCCTCTCAGTGCATGGCTGGAGTGACAGTACTGGAATACTGGGGCTGTGAACTGGGTGTTTTCTTTTCTTTTTCTCTTCTTTTTTTTTTTTATTGAGACAGAGTCTCACAGCTGTCACCCAGGCTGGAGTGCAGTGGAGCGATCTCAGCTCACTGCAACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCGAGGACTGGGTGCTTTATCCCGGAGCCAACAAGGGAGGAAACTGAGGCCCAGGGAGCTGGGTATCCCACGTGCAGGCTCTTACCTCAGGTCCATGCTTCAGGTGCCTCCTTTGTGGCTCACCCCTGCTGACTCCTTACAAAGCCAGGCCGTTGGCAGGCACAGGAACCAGGCTCTGAAACCCCGTGCTCCCCTGCCAGTGGCTCAGTTGATGTAATCACCCTGCAGTGGGAGTGCTCTTTGAGTGCGGCCACTGCGCCCCCTCCCGACCCGCATGGCCCTGTATGTAGTGGCGCTGGCCCCTACCCCATGGGGCCCACATTCTGAACCACAGGCTGCTCATTAGAAATGTACCGTCACCAACCCAGTTCCCCTGAGACCCTCCACACCAGCAGGACAAGTCCCCCAGTCAGCAAGATGTGTCTTCTGCCAGAACGTGCTCGGCATTTTTCTGTGCTGTAGATTCATATGTGTGATTTTGCAGGGAAGCCAGATTGCTTTTTTGCAATTTGCATTGTTCACCTGCCAATAGTCATGGGGTCACGGGCCTGTCTCTGCCCAAGGCTTGCAAGAGGCTACGTTGTGTGGCTCCAACTCGGTGAGTCAGCCCCGGGGCAGGACGTCAGGCCTGTGCTCTCCACCCAGCTGCGCTCTTCCACCTGGAGCCTTCCTGGCTGCTGGGCGCAGAGTGGGAGATTCTCCCCATGTGCCGGGCCACCTGCTGCCCCCTGCCCTGATTGCCCACTCTGGGGCCCGCAGATCCGTTGGAAGTACATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGCAGGTGCTCAACACGCACTATGTGGCACCCCGCCGCCTGCTGCTGACGGGCACACCGCTGCAGAACAAGCTTCCCGAGCTCTGGGCGCTGCTCAACTTCCTGCTGCCCACCATCTTCAAGAGCTGCAGCACCTTCGAGCAGTGGTTTAACGCACCCTTTGCCATGACCGGGGAAAAGGTGGGTTTGCCCAGCTGTGCCCATGCTGACGGTTCCAGGTGCGGCTGGCTTTGCTGGTTGGAACGTGTTGAGCACCAGCTACAGCTGGCTGGGCCTGTGCTGGGTGCCTGGTGAGAGTCTGCATCTGCATGGAGCAGGGGAGCCCTGGAACCCAAGGCTGGGGCAGCCACAAGGGCCCCAGGGGAGCAGGGCAGAGGTCATGGTGGTGAATCTCGGAATGCTCGGGGCGTCTCTGACCCTATGCTCCAGGTGCAGAGTGGATGGTGAGGAAGATGGCCCTGAGGCAGCTGTGGGACCGCAAGCGTGTGGAGAGCACAGCTAGAGGCTGTAGCGTGCTGTAGGCCCCTTTAGGTGCCCTCAGAACTCACCCTCAGGGCAGTGGGAAGGAAACTTGGAAGATTCCAGTTAGCGGGGCCACATGGTCAGGTTCTGTCTTACGTTGTTTTCAAAAAGCTCAGTGGCCAGTGTGTCTCAATGTCTGGGTGGCACCATCAGCCAGACTGTGGCATGGCAGCATCATCATTGATGAGTGGTCCCACACCAGCACTGATCCCTGAGCCTAGAGCTCCTTGCTGTTGGAGGTTGAAACTGTGGGACAGACTGTGTTTCCTGCTGAGGGGTTTAAGTAACCAGATGCTGAAGTGTGGGCAGAACTACAGAGGTTACCTCGAAGTGCCCTGCCCAGCACGGCTGGGCCCACCCCCTTCTTCCCACCTTAGACAGGTCCAGGGCAGCTGGGGCCTTCCTGGCCTCATGCGTGAGTTCCCTGCCCTCTCGGCTGCTGGTCAAGGCAGAGACTCTTCTGATGGCGAAACCGAGGCATTCCCCAAAGCCTCGTGATAAAGGAGTCCCCAATTTTTAGACTCCCGGGACCCCCACACTAAGGGCCAGGATCTGATGCTATAGTTTTGTCACTTTCTGAGCCGAGCAAAAGCTCTGCCAAAGGATTGCCAGGGAAGCAATAGAAGAAAAGTTTTGGCGTCGTCTCATTTTCCTTTAACTTTTTTAATTAAAACATTTTAAAAGTTAATTATTAGTAGAGGAGTAGGCGCCGTGGGAGGTCAGGGTTTCTTTCACCTGGTTCCACCCAGGCTGAATGAGAGTCCCTTGGGGCTCCCGGTGGCAGAGCCCTCCCTGAGAATCACCCGCTATAAGCCCCATGTGGTCAGCCTGGCCCCTGCAGCGCTCCTGGCATGAGCTTGGCGTGGGGTGGGTCTGTGGACACTCCAGTTTGTGTTACTCGTGGAGAAGCAGCATGCCCGCTGCCGGGGGTCTTTCTGGTGAGGCACAGGGAGCAGAGTGCTCTGGGTACTGCGGTTCCATGTCCCAGGAATTACATGGAGGGAACCAGATCCTCACAGTTTCCTAAGGAAGAGGGTGCCCTGCCTGGCTCCCAGAAAGCATAAAGCAGGCTGAAAAGCCACGTGCCAAGGGCAAGATCACCCCAGGGGACCCCGTCCACCCTGTCCCCACATCCGCACCTTCTAGTGAGACCTCTGTCGCCCTCCTTTGGAGGTAACGCTTGCTTCTCCTGTCTTGGGGGCTTCCAGGTGGACCTGAATGAGGAGGAAACCATTCTCATCATCCGGCGTCTCCACAAAGTGCTGCGGCCCTTCTTGCTCCGACGACTCAAGAAGGAAGTCGAGGCCCAGTTGCCCGAAAAGGTGATGGAGTTTTGAGGGGAGCCACCAGTGAAGCAGCCTCACGTGGGGGCTTTCTCCAGGGCTGGGCGTGCTCAGGGCCTCTCCCCACAGTCCCAGGCCTGCCCTGGTCAATCCAGCTTGGGGGTGGCGATGACGCCACTGGGTCTGTAAAGCCCTGTGCTGCTGTTGTAGGGATTGAAAAGCACTCATAGGCTCACATAGCTCACAATAGGTTAGAGCACAAAATCCCACTTCCTGTCAGGGGGCCAGGTGCCTGTGCGGGCTCTCCTGGCCACATCAGGAGGGGCCGTGGGCTTGGGGTTGCCCCCCGGCCCCCCATCATGGCTCTGGGTTTTCAAGGCCTGCTGCAGCC 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TCTCCAGGCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCAGACCAGTCTTGTCCTCCTGTCTCATTGCCTTGGCCGTCCCTCCCTGGGGCCCTGGCTTCTCACCACAGGCCATGGGCTGAGATTCAGCATGTGGGGGAGAGCTCGAGGGCCAAATACCATGACTGCCTGCTGGCCTTGGGCAGCTGGTTCGGGCTGTTCTGTGAGGGTCCTACTGTCCTGGAAGCCTCTTCTGGGACGAAACTGTGAAGGGAGTCCCAGCGTGGCCATGACTGAGAATACGGCCCAGATAGAAAACAGACATAGCCCTCTGCCTCCAAAAACTCATGTTCCTCATTTGAGGAGGGGTAAAGATGTACCTGGTCTCACCCCTAAACATCCAGCTGAGTGAGTGTTGAACAGTAGAGAGTTTTTTGCGTTTTGGTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTTGCCCATGCTGGAGTGCAGTGATGTGATCACAGCTCACTGCAGGCCTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCACCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACTCCCAGCTAACTTTTTTAAATTTATTTTTTATGGAGATGGGGTCTTGCTGTACTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGGAATCCTCTCGCCTTGGCCTCACAAAGCACTGGGCAACTGTGTCTGGCCTAACAGTAGAGTTCTTGACCCAGGTATGGGGGGATGGAGGAGCTGTTTATGGGTGGCTCCGCCTCTCAGTGCATGGCTGGAGTGACAGTACTGGAATACTGGGGCTGTGAACTGGGTGTTTTCTTTTCTTTTTCTCTTCTTTTTTTTTTTTATTGAGACAGAGTCTCACAGCTGTCACCCAGGCTGGAGTGCAGTGGAGCGATCTCAGCTCACTGCAACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCGAGGACTGGGTGCTTTATCCCGGAGCCAACAAGGGAGGAAACTGAGGCCCAGGGAGCTGGGTATCCCACGTGCAGGCTCTTACCTCAGGTCCATGCTTCAGGTGCCTCCTTTGTGGCTCACCCCTGCTGACTCCTTACAAAGCCAGGCCGTTGGCAGGCACAGGAACCAGGCTCTGAAACCCCGTGCTCCCCTGCCAGTGGCTCAGTTGATGTAATCACCCTGCAGTGGGAGTGCTCTTTGAGTGCGGCCACTGCGCCCCCTCCCGACCCGCATGGCCCTGTATGTAGTGGCGCTGGCCCCTACCCCATGGGGCCCACATTCTGAACCACAGGCTGCTCATTAGAAATGTACCGTCACCAACCCAGTTCCCCTGAGACCCTCCACACCAGCAGGACAAGTCCCCCAGTCAGCAAGATGTGTCTTCTGCCAGAACGTGCTCGGCATTTTTCTGTGCTGTAGATTCATATGTGTGATTTTGCAGGGAAGCCAGATTGCTTTTTTGCAATTTGCATTGTTCACCTGCCAATAGTCATGGGGTCACGGGCCTGTCTCTGCCCAAGGCTTGCAAGAGGCTACGTTGTGTGGCTCCAACTCGGTGAGTCAGCCCCGGGGCAGGACGTCAGGCCTGTGCTCTCCACCCAGCTGCGCTCTTCCACCTGGAGCCTTCCTGGCTGCTGGGCGCAGAGTGGGAGATTCTCCCCATGTGCCGGGCCACCTGCTGCCCCCTGCCCTGATTGCCCACTCTGGGGCCCGCAGATCCGTTGGAAGTACATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGCAGGTGCTCAACACGCACTATGTGGCACCCCGCCGCCTGCTGCTGACGGGCACACCGCTGCAGAACAAGCTTCCCGAGCTCTGGGCGCTGCTCAACTTCCTGCTGCCCACCATCTTCAAGAGCTGCAGCACCTTCGAGCAGTGGTGTAACGCACCCTTTGCCATGACCGGGGAAAAGGTGGGTTTGCCCAGCTGTGCCCATGCTGACGGTTCCAGGTGCGGCTGGCTTTGCTGGTTGGAACGTGTTGAGCACCAGCTACAGCTGGCTGGGCCTGTGCTGGGTGCCTGGTGAGAGTCTGCATCTGCATGGAGCAGGGGAGCCCTGGAACCCAAGGCTGGGGCAGCCACAAGGGCCCCAGGGGAGCAGGGCAGAGGTCATGGTGGTGAATCTCGGAATGCTCGGGGCGTCTCTGACCCTATGCTCCAGGTGCAGAGTGGATGGTGAGGAAGATGGCCCTGAGGCAGCTGTGGGACCGCAAGCGTGTGGAGAGCACAGCTAGAGGCTGTAGCGTGCTGTAGGCCCCTTTAGGTGCCCTCAGAACTCACCCTCAGGGCAGTGGGAAGGAAACTTGGAAGATTCCAGTTAGCGGGGCCACATGGTCAGGTTCTGTCTTACGTTGTTTTCAAAAAGCTCAGTGGCCAGTGTGTCTCAATGTCTGGGTGGCACCATCAGCCAGACTGTGGCATGGCAGCATCATCATTGATGAGTGGTCCCACACCAGCACTGATCCCTGAGCCTAGAGCTCCTTGCTGTTGGAGGTTGAAACTGTGGGACAGACTGTGTTTCCTGCTGAGGGGTTTAAGTAACCAGATGCTGAAGTGTGGGCAGAACTACAGAGGTTACCTCGAAGTGCCCTGCCCAGCACGGCTGGGCCCACCCCCTTCTTCCCACCTTAGACAGGTCCAGGGCAGCTGGGGCCTTCCTGGCCTCATGCGTGAGTTCCCTGCCCTCTCGGCTGCTGGTCAAGGCAGAGACTCTTCTGATGGCGAAACCGAGGCATTCCCCAAAGCCTCGTGATAAAGGAGTCCCCAATTTTTAGACTCCCGGGACCCCCACACTAAGGGCCAGGATCTGATGCTATAGTTTTGTCACTTTCTGAGCCGAGCAAAAGCTCTGCCAAAGGATTGCCAGGGAAGCAATAGAAGAAAAGTTTTGGCGTCGTCTCATTTTCCTTTAACTTTTTTAATTAAAACATTTTAAAAGTTAATTATTAGTAGAGGAGTAGGCGCCGTGGGAGGTCAGGGTTTCTTTCACCTGGTTCCACCCAGGCTGAATGAGAGTCCCTTGGGGCTCCCGGTGGCAGAGCCCTCCCTGAGAATCACCCGCTATAAGCCCCATGTGGTCAGCCTGGCCCCTGCAGCGCTCCTGGCATGAGCTTGGCGTGGGGTGGGTCTGTGGACACTCCAGTTTGTGTTACTCGTGGAGAAGCAGCATGCCCGCTGCCGGGGGTCTTTCTGGTGAGGCACAGGGAGCAGAGTGCTCTGGGTACTGCGGTTCCATGTCCCAGGAATTACATGGAGGGAACCAGATCCTCACAGTTTCCTAAGGAAGAGGGTGCCCTGCCTGGCTCCCAGAAAGCATAAAGCAGGCTGAAAAGCCACGTGCCAAGGGCAAGATCACCCCAGGGGACCCCGTCCACCCTGTCCCCACATCCGCACCTTCTAGTGAGACCTCTGTCGCCCTCCTTTGGAGGTAACGCTTGCTTCTCCTGTCTTGGGGGCTTCCAGGTGGACCTGAATGAGGAGGAAACCATTCTCATCATCCGGCGTCTCCACAAAGTGCTGCGGCCCTTCTTGCTCCGACGACTCAAGAAGGAAGTCGAGGCCCAGTTGCCCGAAAAGGTGATGGAGTTTTGAGGGGAGCCACCAGTGAAGCAGCCTCACGTGGGGGCTTTCTCCAGGGCTGGGCGTGCTCAGGGCCTCTCCCCACAGTCCCAGGCCTGCCCTGGTCAATCCAGCTTGGGGGTGGCGATGACGCCACTGGGTCTGTAAAGCCCTGTGCTGCTGTTGTAGGGATTGAAAAGCACTCATAGGCTCACATAGCTCACAATAGGTTAGAGCACAAAATCCCACTTCCTGTCAGGGGGCCAGGTGCCTGTGCGGGCTCTCCTGGCCACATCAGGAGGGGCCGTGGGCTTGGGGTTGCCCCCCGGCCCCCCATCATGGCTCTGGGTTTTCAAGGCCTGCTGCAGCC 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Task1_train_26435 | The following genetic variant occurs in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | GGTGAGTCAGCCCCGGGGCAGGACGTCAGGCCTGTGCTCTCCACCCAGCTGCGCTCTTCCACCTGGAGCCTTCCTGGCTGCTGGGCGCAGAGTGGGAGATTCTCCCCATGTGCCGGGCCACCTGCTGCCCCCTGCCCTGATTGCCCACTCTGGGGCCCGCAGATCCGTTGGAAGTACATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGCAGGTGCTCAACACGCACTATGTGGCACCCCGCCGCCTGCTGCTGACGGGCACACCGCTGCAGAACAAGCTTCCCGAGCTCTGGGCGCTGCTCAACTTCCTGCTGCCCACCATCTTCAAGAGCTGCAGCACCTTCGAGCAGTGGTTTAACGCACCCTTTGCCATGACCGGGGAAAAGGTGGGTTTGCCCAGCTGTGCCCATGCTGACGGTTCCAGGTGCGGCTGGCTTTGCTGGTTGGAACGTGTTGAGCACCAGCTACAGCTGGCTGGGCCTGTGCTGGGTGCCTGGTGAGAGTCTGCATCTGCATGGAGCAGGGGAGCCCTGGAACCCAAGGCTGGGGCAGCCACAAGGGCCCCAGGGGAGCAGGGCAGAGGTCATGGTGGTGAATCTCGGAATGCTCGGGGCGTCTCTGACCCTATGCTCCAGGTGCAGAGTGGATGGTGAGGAAGATGGCCCTGAGGCAGCTGTGGGACCGCAAGCGTGTGGAGAGCACAGCTAGAGGCTGTAGCGTGCTGTAGGCCCCTTTAGGTGCCCTCAGAACTCACCCTCAGGGCAGTGGGAAGGAAACTTGGAAGATTCCAGTTAGCGGGGCCACATGGTCAGGTTCTGTCTTACGTTGTTTTCAAAAAGCTCAGTGGCCAGTGTGTCTCAATGTCTGGGTGGCACCATCAGCCAGACTGTGGCATGGCAGCATCATCATTGATGAGTGGTCCCACACCAGCACTGATCCCTGAGCCTAGAGCTCCTTGCTGTTGGAGGTTGAAACTGTGGGACAGACTGTGTTTCCTGCTGAGGGGTTTAAGTAACCAGATGCTGAAGTGTGGGCAGAACTACAGAGGTTACCTCGAAGTGCCCTGCCCAGCACGGCTGGGCCCACCCCCTTCTTCCCACCTTAGACAGGTCCAGGGCAGCTGGGGCCTTCCTGGCCTCATGCGTGAGTTCCCTGCCCTCTCGGCTGCTGGTCAAGGCAGAGACTCTTCTGATGGCGAAACCGAGGCATTCCCCAAAGCCTCGTGATAAAGGAGTCCCCAATTTTTAGACTCCCGGGACCCCCACACTAAGGGCCAGGATCTGATGCTATAGTTTTGTCACTTTCTGAGCCGAGCAAAAGCTCTGCCAAAGGATTGCCAGGGAAGCAATAGAAGAAAAGTTTTGGCGTCGTCTCATTTTCCTTTAACTTTTTTAATTAAAACATTTTAAAAGTTAATTATTAGTAGAGGAGTAGGCGCCGTGGGAGGTCAGGGTTTCTTTCACCTGGTTCCACCCAGGCTGAATGAGAGTCCCTTGGGGCTCCCGGTGGCAGAGCCCTCCCTGAGAATCACCCGCTATAAGCCCCATGTGGTCAGCCTGGCCCCTGCAGCGCTCCTGGCATGAGCTTGGCGTGGGGTGGGTCTGTGGACACTCCAGTTTGTGTTACTCGTGGAGAAGCAGCATGCCCGCTGCCGGGGGTCTTTCTGGTGAGGCACAGGGAGCAGAGTGCTCTGGGTACTGCGGTTCCATGTCCCAGGAATTACATGGAGGGAACCAGATCCTCACAGTTTCCTAAGGAAGAGGGTGCCCTGCCTGGCTCCCAGAAAGCATAAAGCAGGCTGAAAAGCCACGTGCCAAGGGCAAGATCACCCCAGGGGACCCCGTCCACCCTGTCCCCACATCCGCACCTTCTAGTGAGACCTCTGTCGCCCTCCTTTGGAGGTAACGCTTGCTTCTCCTGTCTTGGGGGCTTCCAGGTGGACCTGAATGAGGAGGAAACCATTCTCATCATCCGGCGTCTCCACAAAGTGCTGCGGCCCTTCTTGCTCCGACGACTCAAGAAGGAAGTCGAGGCCCAGTTGCCCGAAAAGGTGATGGAGTTTTGAGGGGAGCCACCAGTGAAGCAGCCTCACGTGGGGGCTTTCTCCAGGGCTGGGCGTGCTCAGGGCCTCTCCCCACAGTCCCAGGCCTGCCCTGGTCAATCCAGCTTGGGGGTGGCGATGACGCCACTGGGTCTGTAAAGCCCTGTGCTGCTGTTGTAGGGATTGAAAAGCACTCATAGGCTCACATAGCTCACAATAGGTTAGAGCACAAAATCCCACTTCCTGTCAGGGGGCCAGGTGCCTGTGCGGGCTCTCCTGGCCACATCAGGAGGGGCCGTGGGCTTGGGGTTGCCCCCCGGCCCCCCATCATGGCTCTGGGTTTTCAAGGCCTGCTGCAGCCACACCCCTGGGCCCAGTTCCCACAGCAAGACCCATGGACTCGGGGTCCCCGGCTGCAGTTGTCCCTCTTGGCTCTTTGTTTCCTGGCTGGCTGTAGAGAGGCCCCCAGAAGATGGCTGGGGGGCCCTTTCTGGCCCAGTAACCCTCTGGTATCTCTGCCTGGTGCTTCCTCTCATTGCCCAGGTCTCCCCTCTTCTCCCCAGCTGTGAGGGTCTCCTCACCCACACCCCAGTGTGCTCTGGTCAGAGCTCATATGACAGGGCCGAGGGGGTCAGAGCTGGGTTCGGATGGGGGGAGTCAGGCCTCAAGCCACCTTGGGCCCTCGTGAGCATTATGTGTCCCCTGCAGGTGGAGTACGTCATCAAGTGCGACATGTCTGCGCTGCAGCGAGTGCTCTACCGCCACATGCAGGCCAAGGGCGTGCTGCTGACTGATGGCTCCGAGAAGGACAAGAAGGTGGGCCCCAGAGTCCCCCAACTGCATTCCCCACTGGGTGTCCAAGGCCGGCAGCGTGGCAGGCAGAGCAGAGCGTGCTCTGACCATCGGGTCATGATCTGGTCATGATCCCCAGGGCATCTGGCCAGCCCTGGTTATGATGGCTGGTGGCTTGTGTCAGGACACACTGACTCAGCTGCCAGTGGCTTCTCCTTTGCCTATGAAACACTGGCTCCTTCTGCAATTGGCAGCCTGGGCCCAGCACTAACCCCAGCAGGGTTAGAGTGTTCTAGAATGCCCCCCTTCTCTGTTATTAAGTGAAAGGAAGGGAGCGGGCTGTCTCCTGCAGGGGCTGCTCTGAGAATCCCAGGCCCCAGGCCCCACCTGCCTGGCTCTCCTCACCAGCAGTGAAATTATCCTCCCAGGAAATGCACCAGACCCCTTGATTCTGCCCCCAAGGCCTTGACCTCGGCCTGGCTTCCCCGAGACGTTGTGTCTGTGCCCCTTCTCCCCTGAGCTGAGCAGCAGTGTGTTCCCTAGTCCATTCCCAGCCCAGAGCATGCACCCCCCGCCCCGCCCCCACCTCCTTCCTCATCCTGGAGCCCAGGGAGCCCTGAGTCATGGCTCACCCGGCTGAGGCCCTCTTGCCCAGCTGAGACCCTCTAGGGACCCCCACAGTAACAGTGCCCAGAACAAAGCTGGCATCACAAAGCATCGGGGACTCTGCCTCAGCCCTTTGCCAGTCTTGTTTCCGTCCCGTCCTGCTGGCCCTGTCCCTGCCATCTGCCCTCTGCTGTGCCAGGCAGTCATTTGTTTCCCAGGGCTTGTTGGGGGCCTCCGGGCCTCCAGCCTGCCATCTCCTCACTCCCAATTGCTGTGCCAAAAGCCACTCTTCCCCACTAGAGCGTCCCCATGGCCCTTCTCCCAACACCCACCCATCCACCAAGCCCACCCCACCCCAGGAGGGCAAGACCCCATTTGGGTCCCTCTCATCTGCCTTCCAGGGCAAAGGCGGCACCAAGACCCTGATGAACACCATCATGCAGCTGCGGAAGATCTGCAACCACCCCTACATGTTCCAGCACATCGAGGTGAGCCCGCCGCGGCTGGGACGGCTCAGGCCCTGCTGTCTGCTGAGCTCCTAGGCAGAGCTGGCTTCTCCTCGACAGCTCTTTAAAAACAGACTCGAATATTTTCATTAGGTAATGCCTGTACATCTGTCTCTCATTTGGTCTTCGCTT 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GGTGAGTCAGCCCCGGGGCAGGACGTCAGGCCTGTGCTCTCCACCCAGCTGCGCTCTTCCACCTGGAGCCTTCCTGGCTGCTGGGCGCAGAGTGGGAGATTCTCCCCATGTGCCGGGCCACCTGCTGCCCCCTGCCCTGATTGCCCACTCTGGGGCCCGCAGATCCGTTGGAAGTACATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGCAGGTGCTCAACACGCACTATGTGGCACCCCGCCGCCTGCTGCTGACGGGCACACCGCTGCAGAACAAGCTTCCCGAGCTCTGGGCGCTGCTCAACTTCCTGCTGCCCACCATCTTCAAGAGCTGCAGCACCTTCGAGCAGTGGTTTAACGCACCCTTTGCCATGACCGGGGAAAAGGTGGGTTTGCCCAGCTGTGCCCATGCTGACGGTTCCAGGTGCGGCTGGCTTTGCTGGTTGGAACGTGTTGAGCACCAGCTACAGCTGGCTGGGCCTGTGCTGGGTGCCTGGTGAGAGTCTGCATCTGCATGGAGCAGGGGAGCCCTGGAACCCAAGGCTGGGGCAGCCACAAGGGCCCCAGGGGAGCAGGGCAGAGGTCATGGTGGTGAATCTCGGAATGCTCGGGGCGTCTCTGACCCTATGCTCCAGGTGCAGAGTGGATGGTGAGGAAGATGGCCCTGAGGCAGCTGTGGGACCGCAAGCGTGTGGAGAGCACAGCTAGAGGCTGTAGCGTGCTGTAGGCCCCTTTAGGTGCCCTCAGAACTCACCCTCAGGGCAGTGGGAAGGAAACTTGGAAGATTCCAGTTAGCGGGGCCACATGGTCAGGTTCTGTCTTACGTTGTTTTCAAAAAGCTCAGTGGCCAGTGTGTCTCAATGTCTGGGTGGCACCATCAGCCAGACTGTGGCATGGCAGCATCATCATTGATGAGTGGTCCCACACCAGCACTGATCCCTGAGCCTAGAGCTCCTTGCTGTTGGAGGTTGAAACTGTGGGACAGACTGTGTTTCCTGCTGAGGGGTTTAAGTAACCAGATGCTGAAGTGTGGGCAGAACTACAGAGGTTACCTCGAAGTGCCCTGCCCAGCACGGCTGGGCCCACCCCCTTCTTCCCACCTTAGACAGGTCCAGGGCAGCTGGGGCCTTCCTGGCCTCATGCGTGAGTTCCCTGCCCTCTCGGCTGCTGGTCAAGGCAGAGACTCTTCTGATGGCGAAACCGAGGCATTCCCCAAAGCCTCGTGATAAAGGAGTCCCCAATTTTTAGACTCCCGGGACCCCCACACTAAGGGCCAGGATCTGATGCTATAGTTTTGTCACTTTCTGAGCCGAGCAAAAGCTCTGCCAAAGGATTGCCAGGGAAGCAATAGAAGAAAAGTTTTGGCGTCGTCTCATTTTCCTTTAACTTTTTTAATTAAAACATTTTAAAAGTTAATTATTAGTAGAGGAGTAGGCGCCGTGGGAGGTCAGGGTTTCTTTCACCTGGTTCCACCCAGGCTGAATGAGAGTCCCTTGGGGCTCCCGGTGGCAGAGCCCTCCCTGAGAATCACCCGCTATAAGCCCCATGTGGTCAGCCTGGCCCCTGCAGCGCTCCTGGCATGAGCTTGGCGTGGGGTGGGTCTGTGGACACTCCAGTTTGTGTTACTCGTGGAGAAGCAGCATGCCCGCTGCCGGGGGTCTTTCTGGTGAGGCACAGGGAGCAGAGTGCTCTGGGTACTGCGGTTCCATGTCCCAGGAATTACATGGAGGGAACCAGATCCTCACAGTTTCCTAAGGAAGAGGGTGCCCTGCCTGGCTCCCAGAAAGCATAAAGCAGGCTGAAAAGCCACGTGCCAAGGGCAAGATCACCCCAGGGGACCCCGTCCACCCTGTCCCCACATCCGCACCTTCTAGTGAGACCTCTGTCGCCCTCCTTTGGAGGTAACGCTTGCTTCTCCTGTCTTGGGGGCTTCCAGGTGGACCTGAATGAGGAGGAAACCATTCTCATCATCCGGCGTCTCCACAAAGTGCTGCGGCCCTTCTTGCTCCGACGACTCAAGAAGGAAGTCAAGGCCCAGTTGCCCGAAAAGGTGATGGAGTTTTGAGGGGAGCCACCAGTGAAGCAGCCTCACGTGGGGGCTTTCTCCAGGGCTGGGCGTGCTCAGGGCCTCTCCCCACAGTCCCAGGCCTGCCCTGGTCAATCCAGCTTGGGGGTGGCGATGACGCCACTGGGTCTGTAAAGCCCTGTGCTGCTGTTGTAGGGATTGAAAAGCACTCATAGGCTCACATAGCTCACAATAGGTTAGAGCACAAAATCCCACTTCCTGTCAGGGGGCCAGGTGCCTGTGCGGGCTCTCCTGGCCACATCAGGAGGGGCCGTGGGCTTGGGGTTGCCCCCCGGCCCCCCATCATGGCTCTGGGTTTTCAAGGCCTGCTGCAGCCACACCCCTGGGCCCAGTTCCCACAGCAAGACCCATGGACTCGGGGTCCCCGGCTGCAGTTGTCCCTCTTGGCTCTTTGTTTCCTGGCTGGCTGTAGAGAGGCCCCCAGAAGATGGCTGGGGGGCCCTTTCTGGCCCAGTAACCCTCTGGTATCTCTGCCTGGTGCTTCCTCTCATTGCCCAGGTCTCCCCTCTTCTCCCCAGCTGTGAGGGTCTCCTCACCCACACCCCAGTGTGCTCTGGTCAGAGCTCATATGACAGGGCCGAGGGGGTCAGAGCTGGGTTCGGATGGGGGGAGTCAGGCCTCAAGCCACCTTGGGCCCTCGTGAGCATTATGTGTCCCCTGCAGGTGGAGTACGTCATCAAGTGCGACATGTCTGCGCTGCAGCGAGTGCTCTACCGCCACATGCAGGCCAAGGGCGTGCTGCTGACTGATGGCTCCGAGAAGGACAAGAAGGTGGGCCCCAGAGTCCCCCAACTGCATTCCCCACTGGGTGTCCAAGGCCGGCAGCGTGGCAGGCAGAGCAGAGCGTGCTCTGACCATCGGGTCATGATCTGGTCATGATCCCCAGGGCATCTGGCCAGCCCTGGTTATGATGGCTGGTGGCTTGTGTCAGGACACACTGACTCAGCTGCCAGTGGCTTCTCCTTTGCCTATGAAACACTGGCTCCTTCTGCAATTGGCAGCCTGGGCCCAGCACTAACCCCAGCAGGGTTAGAGTGTTCTAGAATGCCCCCCTTCTCTGTTATTAAGTGAAAGGAAGGGAGCGGGCTGTCTCCTGCAGGGGCTGCTCTGAGAATCCCAGGCCCCAGGCCCCACCTGCCTGGCTCTCCTCACCAGCAGTGAAATTATCCTCCCAGGAAATGCACCAGACCCCTTGATTCTGCCCCCAAGGCCTTGACCTCGGCCTGGCTTCCCCGAGACGTTGTGTCTGTGCCCCTTCTCCCCTGAGCTGAGCAGCAGTGTGTTCCCTAGTCCATTCCCAGCCCAGAGCATGCACCCCCCGCCCCGCCCCCACCTCCTTCCTCATCCTGGAGCCCAGGGAGCCCTGAGTCATGGCTCACCCGGCTGAGGCCCTCTTGCCCAGCTGAGACCCTCTAGGGACCCCCACAGTAACAGTGCCCAGAACAAAGCTGGCATCACAAAGCATCGGGGACTCTGCCTCAGCCCTTTGCCAGTCTTGTTTCCGTCCCGTCCTGCTGGCCCTGTCCCTGCCATCTGCCCTCTGCTGTGCCAGGCAGTCATTTGTTTCCCAGGGCTTGTTGGGGGCCTCCGGGCCTCCAGCCTGCCATCTCCTCACTCCCAATTGCTGTGCCAAAAGCCACTCTTCCCCACTAGAGCGTCCCCATGGCCCTTCTCCCAACACCCACCCATCCACCAAGCCCACCCCACCCCAGGAGGGCAAGACCCCATTTGGGTCCCTCTCATCTGCCTTCCAGGGCAAAGGCGGCACCAAGACCCTGATGAACACCATCATGCAGCTGCGGAAGATCTGCAACCACCCCTACATGTTCCAGCACATCGAGGTGAGCCCGCCGCGGCTGGGACGGCTCAGGCCCTGCTGTCTGCTGAGCTCCTAGGCAGAGCTGGCTTCTCCTCGACAGCTCTTTAAAAACAGACTCGAATATTTTCATTAGGTAATGCCTGTACATCTGTCTCTCATTTGGTCTTCGCTT 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Task1_train_26436 | Here’s a variant in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Intellectual disability, autosomal dominant 16 | GGGCAGTGGGAAGGAAACTTGGAAGATTCCAGTTAGCGGGGCCACATGGTCAGGTTCTGTCTTACGTTGTTTTCAAAAAGCTCAGTGGCCAGTGTGTCTCAATGTCTGGGTGGCACCATCAGCCAGACTGTGGCATGGCAGCATCATCATTGATGAGTGGTCCCACACCAGCACTGATCCCTGAGCCTAGAGCTCCTTGCTGTTGGAGGTTGAAACTGTGGGACAGACTGTGTTTCCTGCTGAGGGGTTTAAGTAACCAGATGCTGAAGTGTGGGCAGAACTACAGAGGTTACCTCGAAGTGCCCTGCCCAGCACGGCTGGGCCCACCCCCTTCTTCCCACCTTAGACAGGTCCAGGGCAGCTGGGGCCTTCCTGGCCTCATGCGTGAGTTCCCTGCCCTCTCGGCTGCTGGTCAAGGCAGAGACTCTTCTGATGGCGAAACCGAGGCATTCCCCAAAGCCTCGTGATAAAGGAGTCCCCAATTTTTAGACTCCCGGGACCCCCACACTAAGGGCCAGGATCTGATGCTATAGTTTTGTCACTTTCTGAGCCGAGCAAAAGCTCTGCCAAAGGATTGCCAGGGAAGCAATAGAAGAAAAGTTTTGGCGTCGTCTCATTTTCCTTTAACTTTTTTAATTAAAACATTTTAAAAGTTAATTATTAGTAGAGGAGTAGGCGCCGTGGGAGGTCAGGGTTTCTTTCACCTGGTTCCACCCAGGCTGAATGAGAGTCCCTTGGGGCTCCCGGTGGCAGAGCCCTCCCTGAGAATCACCCGCTATAAGCCCCATGTGGTCAGCCTGGCCCCTGCAGCGCTCCTGGCATGAGCTTGGCGTGGGGTGGGTCTGTGGACACTCCAGTTTGTGTTACTCGTGGAGAAGCAGCATGCCCGCTGCCGGGGGTCTTTCTGGTGAGGCACAGGGAGCAGAGTGCTCTGGGTACTGCGGTTCCATGTCCCAGGAATTACATGGAGGGAACCAGATCCTCACAGTTTCCTAAGGAAGAGGGTGCCCTGCCTGGCTCCCAGAAAGCATAAAGCAGGCTGAAAAGCCACGTGCCAAGGGCAAGATCACCCCAGGGGACCCCGTCCACCCTGTCCCCACATCCGCACCTTCTAGTGAGACCTCTGTCGCCCTCCTTTGGAGGTAACGCTTGCTTCTCCTGTCTTGGGGGCTTCCAGGTGGACCTGAATGAGGAGGAAACCATTCTCATCATCCGGCGTCTCCACAAAGTGCTGCGGCCCTTCTTGCTCCGACGACTCAAGAAGGAAGTCGAGGCCCAGTTGCCCGAAAAGGTGATGGAGTTTTGAGGGGAGCCACCAGTGAAGCAGCCTCACGTGGGGGCTTTCTCCAGGGCTGGGCGTGCTCAGGGCCTCTCCCCACAGTCCCAGGCCTGCCCTGGTCAATCCAGCTTGGGGGTGGCGATGACGCCACTGGGTCTGTAAAGCCCTGTGCTGCTGTTGTAGGGATTGAAAAGCACTCATAGGCTCACATAGCTCACAATAGGTTAGAGCACAAAATCCCACTTCCTGTCAGGGGGCCAGGTGCCTGTGCGGGCTCTCCTGGCCACATCAGGAGGGGCCGTGGGCTTGGGGTTGCCCCCCGGCCCCCCATCATGGCTCTGGGTTTTCAAGGCCTGCTGCAGCCACACCCCTGGGCCCAGTTCCCACAGCAAGACCCATGGACTCGGGGTCCCCGGCTGCAGTTGTCCCTCTTGGCTCTTTGTTTCCTGGCTGGCTGTAGAGAGGCCCCCAGAAGATGGCTGGGGGGCCCTTTCTGGCCCAGTAACCCTCTGGTATCTCTGCCTGGTGCTTCCTCTCATTGCCCAGGTCTCCCCTCTTCTCCCCAGCTGTGAGGGTCTCCTCACCCACACCCCAGTGTGCTCTGGTCAGAGCTCATATGACAGGGCCGAGGGGGTCAGAGCTGGGTTCGGATGGGGGGAGTCAGGCCTCAAGCCACCTTGGGCCCTCGTGAGCATTATGTGTCCCCTGCAGGTGGAGTACGTCATCAAGTGCGACATGTCTGCGCTGCAGCGAGTGCTCTACCGCCACATGCAGGCCAAGGGCGTGCTGCTGACTGATGGCTCCGAGAAGGACAAGAAGGTGGGCCCCAGAGTCCCCCAACTGCATTCCCCACTGGGTGTCCAAGGCCGGCAGCGTGGCAGGCAGAGCAGAGCGTGCTCTGACCATCGGGTCATGATCTGGTCATGATCCCCAGGGCATCTGGCCAGCCCTGGTTATGATGGCTGGTGGCTTGTGTCAGGACACACTGACTCAGCTGCCAGTGGCTTCTCCTTTGCCTATGAAACACTGGCTCCTTCTGCAATTGGCAGCCTGGGCCCAGCACTAACCCCAGCAGGGTTAGAGTGTTCTAGAATGCCCCCCTTCTCTGTTATTAAGTGAAAGGAAGGGAGCGGGCTGTCTCCTGCAGGGGCTGCTCTGAGAATCCCAGGCCCCAGGCCCCACCTGCCTGGCTCTCCTCACCAGCAGTGAAATTATCCTCCCAGGAAATGCACCAGACCCCTTGATTCTGCCCCCAAGGCCTTGACCTCGGCCTGGCTTCCCCGAGACGTTGTGTCTGTGCCCCTTCTCCCCTGAGCTGAGCAGCAGTGTGTTCCCTAGTCCATTCCCAGCCCAGAGCATGCACCCCCCGCCCCGCCCCCACCTCCTTCCTCATCCTGGAGCCCAGGGAGCCCTGAGTCATGGCTCACCCGGCTGAGGCCCTCTTGCCCAGCTGAGACCCTCTAGGGACCCCCACAGTAACAGTGCCCAGAACAAAGCTGGCATCACAAAGCATCGGGGACTCTGCCTCAGCCCTTTGCCAGTCTTGTTTCCGTCCCGTCCTGCTGGCCCTGTCCCTGCCATCTGCCCTCTGCTGTGCCAGGCAGTCATTTGTTTCCCAGGGCTTGTTGGGGGCCTCCGGGCCTCCAGCCTGCCATCTCCTCACTCCCAATTGCTGTGCCAAAAGCCACTCTTCCCCACTAGAGCGTCCCCATGGCCCTTCTCCCAACACCCACCCATCCACCAAGCCCACCCCACCCCAGGAGGGCAAGACCCCATTTGGGTCCCTCTCATCTGCCTTCCAGGGCAAAGGCGGCACCAAGACCCTGATGAACACCATCATGCAGCTGCGGAAGATCTGCAACCACCCCTACATGTTCCAGCACATCGAGGTGAGCCCGCCGCGGCTGGGACGGCTCAGGCCCTGCTGTCTGCTGAGCTCCTAGGCAGAGCTGGCTTCTCCTCGACAGCTCTTTAAAAACAGACTCGAATATTTTCATTAGGTAATGCCTGTACATCTGTCTCTCATTTGGTCTTCGCTTCACCAGTGCTTACGGGAAGAATCCCAGCAGTTAGGGCGCAACGTGCGATAGGAATATAGGGCCCTGAAAGCTTGCCCTCAGAGAGCAGGAGCGTTTGGAGACTTCTCTGGGGATGTGTCCCCCCACAGTGGGGTCCTGCTGCGTCTCTTTGGCTCACTGGCTTTTCTCACGTTGCGGGGCGTCAAGAGTCACCACCGTCTTCAGTGAAGTGTGGGGGAGTCAGAACCCTTTTTGGTCATGGTGGCTTTGAGAATCTGGGTTCTTAGAAGCATGCATATGTTCGTGTTTCTTGGTGTAAAGTGTCAGGGTCGTTGGAGACCGCCTGCTGCCCCGAGAGCCCCTGGGGCTGTCTCAGCACCCTGAGCGTGGCTGTGGCCCCATGACGTCCTCGTGCATTCAGGGTGTGAAGAGTGCTGTATGGGATGTCCTTTCCTTCGTTGGAGGAGTGTGAGGGAAAGGATGTCAGTGGACTAAGAAAGATGGTTTTGGCATCTGTGTCTGGTCTCAGAGCCGCCGTGGGCCCGTGCCGAGCACACAGTGTGGGGGCTTTGTCCTCTGAGCACGAGCGGTGTGTGCGGACCGCAGCGGGGCCCGGTGGCCTGCTCCTGCCTGTCACTGACCCCTCTCTCCTTGCCTTGCAGGAGTCCTTTTCCGAGCACTTGGGGTTCACTGGCGGCATTGTCCAAGGGTGAGAAGCTTCCCAACTGGATGGGGTGGGCAGGTGGTCCACCCAGAGGTTTTCTGTCGTTTTGTTGGCTTTATTGCTGCTGTTATGTTG 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GGGCAGTGGGAAGGAAACTTGGAAGATTCCAGTTAGCGGGGCCACATGGTCAGGTTCTGTCTTACGTTGTTTTCAAAAAGCTCAGTGGCCAGTGTGTCTCAATGTCTGGGTGGCACCATCAGCCAGACTGTGGCATGGCAGCATCATCATTGATGAGTGGTCCCACACCAGCACTGATCCCTGAGCCTAGAGCTCCTTGCTGTTGGAGGTTGAAACTGTGGGACAGACTGTGTTTCCTGCTGAGGGGTTTAAGTAACCAGATGCTGAAGTGTGGGCAGAACTACAGAGGTTACCTCGAAGTGCCCTGCCCAGCACGGCTGGGCCCACCCCCTTCTTCCCACCTTAGACAGGTCCAGGGCAGCTGGGGCCTTCCTGGCCTCATGCGTGAGTTCCCTGCCCTCTCGGCTGCTGGTCAAGGCAGAGACTCTTCTGATGGCGAAACCGAGGCATTCCCCAAAGCCTCGTGATAAAGGAGTCCCCAATTTTTAGACTCCCGGGACCCCCACACTAAGGGCCAGGATCTGATGCTATAGTTTTGTCACTTTCTGAGCCGAGCAAAAGCTCTGCCAAAGGATTGCCAGGGAAGCAATAGAAGAAAAGTTTTGGCGTCGTCTCATTTTCCTTTAACTTTTTTAATTAAAACATTTTAAAAGTTAATTATTAGTAGAGGAGTAGGCGCCGTGGGAGGTCAGGGTTTCTTTCACCTGGTTCCACCCAGGCTGAATGAGAGTCCCTTGGGGCTCCCGGTGGCAGAGCCCTCCCTGAGAATCACCCGCTATAAGCCCCATGTGGTCAGCCTGGCCCCTGCAGCGCTCCTGGCATGAGCTTGGCGTGGGGTGGGTCTGTGGACACTCCAGTTTGTGTTACTCGTGGAGAAGCAGCATGCCCGCTGCCGGGGGTCTTTCTGGTGAGGCACAGGGAGCAGAGTGCTCTGGGTACTGCGGTTCCATGTCCCAGGAATTACATGGAGGGAACCAGATCCTCACAGTTTCCTAAGGAAGAGGGTGCCCTGCCTGGCTCCCAGAAAGCATAAAGCAGGCTGAAAAGCCACGTGCCAAGGGCAAGATCACCCCAGGGGACCCCGTCCACCCTGTCCCCACATCCGCACCTTCTAGTGAGACCTCTGTCGCCCTCCTTTGGAGGTAACGCTTGCTTCTCCTGTCTTGGGGGCTTCCAGGTGGACCTGAATGAGGAGGAAACCATTCTCATCATCCGGCGTCTCCACAAAGTGCTGCGGCCCTTCTTGCTCCGACGACTCAAGAAGGAAGTCGAGGCCCAGTTGCCCGAAAAGGTGATGGAGTTTTGAGGGGAGCCACCAGTGAAGCAGCCTCACGTGGGGGCTTTCTCCAGGGCTGGGCGTGCTCAGGGCCTCTCCCCACAGTCCCAGGCCTGCCCTGGTCAATCCAGCTTGGGGGTGGCGATGACGCCACTGGGTCTGTAAAGCCCTGTGCTGCTGTTGTAGGGATTGAAAAGCACTCATAGGCTCACATAGCTCACAATAGGTTAGAGCACAAAATCCCACTTCCTGTCAGGGGGCCAGGTGCCTGTGCGGGCTCTCCTGGCCACATCAGGAGGGGCCGTGGGCTTGGGGTTGCCCCCCGGCCCCCCATCATGGCTCTGGGTTTTCAAGGCCTGCTGCAGCCACACCCCTGGGCCCAGTTCCCACAGCAAGACCCATGGACTCGGGGTCCCCGGCTGCAGTTGTCCCTCTTGGCTCTTTGTTTCCTGGCTGGCTGTAGAGAGGCCCCCAGAAGATGGCTGGGGGGCCCTTTCTGGCCCAGTAACCCTCTGGTATCTCTGCCTGGTGCTTCCTCTCATTGCCCAGGTCTCCCCTCTTCTCCCCAGCTGTGAGGGTCTCCTCACCCACACCCCAGTGTGCTCTGGTCAGAGCTCATATGACAGGGCCGAGGGGGTCAGAGCTGGGTTCGGATGGGGGGAGTCAGGCCTCAAGCCACCTTGGGCCCTCGTGAGCATTATGTGTCCCCTGCAGGTGGAGTACGTCATCAAGTGCGACATGTCTGCGCTGCAGCGAGTGCTCTACCGCCACACGCAGGCCAAGGGCGTGCTGCTGACTGATGGCTCCGAGAAGGACAAGAAGGTGGGCCCCAGAGTCCCCCAACTGCATTCCCCACTGGGTGTCCAAGGCCGGCAGCGTGGCAGGCAGAGCAGAGCGTGCTCTGACCATCGGGTCATGATCTGGTCATGATCCCCAGGGCATCTGGCCAGCCCTGGTTATGATGGCTGGTGGCTTGTGTCAGGACACACTGACTCAGCTGCCAGTGGCTTCTCCTTTGCCTATGAAACACTGGCTCCTTCTGCAATTGGCAGCCTGGGCCCAGCACTAACCCCAGCAGGGTTAGAGTGTTCTAGAATGCCCCCCTTCTCTGTTATTAAGTGAAAGGAAGGGAGCGGGCTGTCTCCTGCAGGGGCTGCTCTGAGAATCCCAGGCCCCAGGCCCCACCTGCCTGGCTCTCCTCACCAGCAGTGAAATTATCCTCCCAGGAAATGCACCAGACCCCTTGATTCTGCCCCCAAGGCCTTGACCTCGGCCTGGCTTCCCCGAGACGTTGTGTCTGTGCCCCTTCTCCCCTGAGCTGAGCAGCAGTGTGTTCCCTAGTCCATTCCCAGCCCAGAGCATGCACCCCCCGCCCCGCCCCCACCTCCTTCCTCATCCTGGAGCCCAGGGAGCCCTGAGTCATGGCTCACCCGGCTGAGGCCCTCTTGCCCAGCTGAGACCCTCTAGGGACCCCCACAGTAACAGTGCCCAGAACAAAGCTGGCATCACAAAGCATCGGGGACTCTGCCTCAGCCCTTTGCCAGTCTTGTTTCCGTCCCGTCCTGCTGGCCCTGTCCCTGCCATCTGCCCTCTGCTGTGCCAGGCAGTCATTTGTTTCCCAGGGCTTGTTGGGGGCCTCCGGGCCTCCAGCCTGCCATCTCCTCACTCCCAATTGCTGTGCCAAAAGCCACTCTTCCCCACTAGAGCGTCCCCATGGCCCTTCTCCCAACACCCACCCATCCACCAAGCCCACCCCACCCCAGGAGGGCAAGACCCCATTTGGGTCCCTCTCATCTGCCTTCCAGGGCAAAGGCGGCACCAAGACCCTGATGAACACCATCATGCAGCTGCGGAAGATCTGCAACCACCCCTACATGTTCCAGCACATCGAGGTGAGCCCGCCGCGGCTGGGACGGCTCAGGCCCTGCTGTCTGCTGAGCTCCTAGGCAGAGCTGGCTTCTCCTCGACAGCTCTTTAAAAACAGACTCGAATATTTTCATTAGGTAATGCCTGTACATCTGTCTCTCATTTGGTCTTCGCTTCACCAGTGCTTACGGGAAGAATCCCAGCAGTTAGGGCGCAACGTGCGATAGGAATATAGGGCCCTGAAAGCTTGCCCTCAGAGAGCAGGAGCGTTTGGAGACTTCTCTGGGGATGTGTCCCCCCACAGTGGGGTCCTGCTGCGTCTCTTTGGCTCACTGGCTTTTCTCACGTTGCGGGGCGTCAAGAGTCACCACCGTCTTCAGTGAAGTGTGGGGGAGTCAGAACCCTTTTTGGTCATGGTGGCTTTGAGAATCTGGGTTCTTAGAAGCATGCATATGTTCGTGTTTCTTGGTGTAAAGTGTCAGGGTCGTTGGAGACCGCCTGCTGCCCCGAGAGCCCCTGGGGCTGTCTCAGCACCCTGAGCGTGGCTGTGGCCCCATGACGTCCTCGTGCATTCAGGGTGTGAAGAGTGCTGTATGGGATGTCCTTTCCTTCGTTGGAGGAGTGTGAGGGAAAGGATGTCAGTGGACTAAGAAAGATGGTTTTGGCATCTGTGTCTGGTCTCAGAGCCGCCGTGGGCCCGTGCCGAGCACACAGTGTGGGGGCTTTGTCCTCTGAGCACGAGCGGTGTGTGCGGACCGCAGCGGGGCCCGGTGGCCTGCTCCTGCCTGTCACTGACCCCTCTCTCCTTGCCTTGCAGGAGTCCTTTTCCGAGCACTTGGGGTTCACTGGCGGCATTGTCCAAGGGTGAGAAGCTTCCCAACTGGATGGGGTGGGCAGGTGGTCCACCCAGAGGTTTTCTGTCGTTTTGTTGGCTTTATTGCTGCTGTTATGTTG 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Task1_train_26437 | The gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Rhabdoid tumor predisposition syndrome 2 | ACTTCTCTGGGGATGTGTCCCCCCACAGTGGGGTCCTGCTGCGTCTCTTTGGCTCACTGGCTTTTCTCACGTTGCGGGGCGTCAAGAGTCACCACCGTCTTCAGTGAAGTGTGGGGGAGTCAGAACCCTTTTTGGTCATGGTGGCTTTGAGAATCTGGGTTCTTAGAAGCATGCATATGTTCGTGTTTCTTGGTGTAAAGTGTCAGGGTCGTTGGAGACCGCCTGCTGCCCCGAGAGCCCCTGGGGCTGTCTCAGCACCCTGAGCGTGGCTGTGGCCCCATGACGTCCTCGTGCATTCAGGGTGTGAAGAGTGCTGTATGGGATGTCCTTTCCTTCGTTGGAGGAGTGTGAGGGAAAGGATGTCAGTGGACTAAGAAAGATGGTTTTGGCATCTGTGTCTGGTCTCAGAGCCGCCGTGGGCCCGTGCCGAGCACACAGTGTGGGGGCTTTGTCCTCTGAGCACGAGCGGTGTGTGCGGACCGCAGCGGGGCCCGGTGGCCTGCTCCTGCCTGTCACTGACCCCTCTCTCCTTGCCTTGCAGGAGTCCTTTTCCGAGCACTTGGGGTTCACTGGCGGCATTGTCCAAGGGTGAGAAGCTTCCCAACTGGATGGGGTGGGCAGGTGGTCCACCCAGAGGTTTTCTGTCGTTTTGTTGGCTTTATTGCTGCTGTTATGTTGTCCAATTTCAAAGGCAGAAAATTAGAAAATACAGAAGAATCCAAAGCAAATAATACAAATCTTTTTTTTTTTTTTTTTTTGAGGTGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGACACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGCACCTGCCACCACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACCGCGCCCGGCCCCATTATACAAATCTTTAGTGCTTGGAGAGCTGACCACTATTAACCCCAAGAGACAGGATTCCTGAGGCAGACCTGGCTTACAGATCCCACTCTGCCGCCTCCAAGCTCTGTGACTCTAGACAGCTTTCTTAACCTCTCTGAGCCTAAACTCTGCTCACTAGTACAGAGGCACTCTTTACATCATGTGGGTGTTTTCTATAGCACCCTTTGTAAGGGGCAGCCCAGACTCCTTTAAGCCCCTAATGGATGTGGATGCTGTGTCTAGATTTTCACCATTGCAAAGAACCTTGCTAAAAGCATTCTTCCAGCTAAAGCCTCCATTCAATTCCCCTGGGGTAGTAAGCCATTTGCAAGAAGAGAGGCGCCTAATGAAAACATCACAAATTCTTTTTGATGTGTTTTTTTATACTGAGTTGTGGAACAGGGTCCTGTACACCTGGCTTCAAGGCTGGGAGGCCTGGCTTGGACATGTGGTCAGCCATATCACGTCGTCCCCCTGCCAGCCTCAGTGTCCACATCTACAACACTTGGGGTTTGGCTGGAGAGAACATGAGAAGCCGAGGTGGCCCTTCCTTCTGGGTCTAGCAGAGCATGGGTGTCTCCAGTGTGGCATTTGCTCCTGGGGCTTCTTTATCGGGCAAGGGGACAAGGTCTGGCTTCCCGGAGCATCCCTGTTCCAGCCCCGTGTTGTGCCGGCCATGTGACTCACAGCTCCTCTCATTTTCATGAGTGTCTGGGTTTGACGAGAAATACATGTGCCACCCTGGTGATACGCCTCCCCAGCGAGGGTGGCCGGGCTTATTTCAGTTGGGGGAAATGGCTTTGCTGAAGCTTTGGGTGGGTGACGTCTGCTTAGGATGCATGTCTGTGCCCTTGAACCCGGCGCCTGGCCTGGAGGCGGGCGATGCACCTCCTGCCTTACCTGCCTGCAGGGTTCCAGGTTTAACATCCTGCGCCTTCTCTCCTGCCTCCTCCACACTCCAGGCTGGACCTGTACCGAGCCTCGGGTAAATTTGAGCTTCTTGATAGAATTCTTCCCAAACTCCGAGCAACCAACCACAAAGTGCTGCTGTTCTGCCAAATGACCTCCCTCATGACCATCATGGAAGATTACTTTGCGTATCGCGGCTTTAAATACCTCAGGCTTGATGGTGAGTATGAGCCAGTGAGGCGTTTCTTACAGGGTTTTGTTGTTGTGGCTGCCACAGAAGCTCCTCACTGGCATTCCCTCCTGTGAGGCAGGGTGAGGCCCAGGCGCTCTGGGTCCAGTGGCCAGAGTGGGCCTAGCCACAGGCTGAGCATCTTGGGCACTCGGCACTGGGACAGGCCGTGGATTGGACGCCGGGTGTCCTGACTCCTAGGCTGACAGTCTTTCCACGACAATGCTGGGCGCACTGGGGAAGGGGTGCCCTGTGCACTTTTAGCTGGAAGTGACAGAATTCCATACCATGTGGACACAGGAAAGAAAGCACCAATAGGCTTACATAGCTCTAACCCCAGGAGGTTAAACATCCTTCAGGCACAGCTGGATCCAGGCATGCAGGTGATATTGGAGAGACTTTTCTCCAGCTCTTTGCTCTGCCTTCTTCCATCTTGGCTTCCTTTCCACCTGCTCAGTGTCCCCAACAAAGGCAGGTCCCAGGCTGGCTCTCATTTAGCTGCTGTGAGCCGCATGCCCATCCCTGGGCCATTCGTAGCAGCCCAGTGACTGCCACCTTGCCACAGGTCAGGCCTGGACCTGGAATCAGACTCTGTGGTGAGCACGGAGGGAGGGAAGCAAGCACTGCCAGGCAGGAGCAGCAGCTGCCGTAGAGAGGCTCTCAGCCCAACCCCCTGCCCTGCGGTCCCTGATGGGAAAGGTCACCGCCTGTGTTTCTGCGCCTGCCTGCCCCAGCACACGGGAGCTCAGGGAGGAGAGGCTGTGAGATGCCGACAGGGCACGTGAGACATGTCTGTCAGTCCCAGTGGGTCAGGGAGCCCTGGAGTGAGTTCTTCGTGGGAGTTACTAGAACTGGGCTTACGAGAAACACGAGCATGAGCTGCTGAGACAGACACGGCTCAGCCAGTTTGTTGTTCCCTACACGACCTCCCAGAGCCTTTGTTGAAGCTCCTGTGCAAGGTCTGTCTCACAGCAGGACACCCCAGACCTCCATACCCCTTGTCCCGTTGATCACTTGGACCTGTGTTTGCTGGGCCAACCTGCCCAGGTGCCACCCGGAGTGTGCCCTGTGTGTCCCTCCAAACTGCAGGTCCTCCCCGGGGTTCTGTCCAGGACCACTCTACAGACACGAGTCTGTTGCAGGGGTCTCCCCGGCTTGCCTTCTTCCTTGGGGGCTTCCCACTTTCAGCTTTGAGGCTGAAAACCAAAATCCTTCAGGGTCCTCATGGCCGGGCCACCCCCCACCCTTTCCTCTCCTACGGTCTCTCCAGCGGCTTCTCCCGTCCTCGAGAGGGCCAAGGCTTCCTGAGGGCCATCCCGTCTGTGTCGTGTCCCTGACTCCCCCAGGAGAGAGCCTGGTTCCCACCCATCCCAGTGCCCTTCTGCCTACTCCATAAGGACAAGGACTTTGGTCAGTTGAACTACAGATGTGTCCTCTGCATGTGATGTGGTCATGGCCACAGGGCCAGAGAATCCATTGCGAGTAGAGGAAGGGTAGGAGCTCAGTGAAGTCTCCTGAGACTGCATCTCCCATGGGTGGGCTGGCATCTGGGAGCCGGGTGGCCCCTCACCTCAGCCCCTCCTCCGAGCTGGAGTAGCAGGGGCACATCTGGTGCCTGAGAGAGGGTGGGACGGCAGGTGGATGGCCAGGCTACTGTGGGCTTCTGCACCGTGCCTGGGCATGTGTAGGCTGGTGGCAGGAAATGGCCAGTTTTTATTTCTTCTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCGCCTGGATTCAAGCGATTCTCCTGCCTCATCCTCCCTGGTATCTGGGATTACAGGCGCCCGCCACTACGCCCAGCTAATTTTCTTGTATTTT 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ACTTCTCTGGGGATGTGTCCCCCCACAGTGGGGTCCTGCTGCGTCTCTTTGGCTCACTGGCTTTTCTCACGTTGCGGGGCGTCAAGAGTCACCACCGTCTTCAGTGAAGTGTGGGGGAGTCAGAACCCTTTTTGGTCATGGTGGCTTTGAGAATCTGGGTTCTTAGAAGCATGCATATGTTCGTGTTTCTTGGTGTAAAGTGTCAGGGTCGTTGGAGACCGCCTGCTGCCCCGAGAGCCCCTGGGGCTGTCTCAGCACCCTGAGCGTGGCTGTGGCCCCATGACGTCCTCGTGCATTCAGGGTGTGAAGAGTGCTGTATGGGATGTCCTTTCCTTCGTTGGAGGAGTGTGAGGGAAAGGATGTCAGTGGACTAAGAAAGATGGTTTTGGCATCTGTGTCTGGTCTCAGAGCCGCCGTGGGCCCGTGCCGAGCACACAGTGTGGGGGCTTTGTCCTCTGAGCACGAGCGGTGTGTGCGGACCGCAGCGGGGCCCGGTGGCCTGCTCCTGCCTGTCACTGACCCCTCTCTCCTTGCCTTGCAGGAGTCCTTTTCCGAGCACTTGGGGTTCACTGGCGGCATTGTCCAAGGGTGAGAAGCTTCCCAACTGGATGGGGTGGGCAGGTGGTCCACCCAGAGGTTTTCTGTCGTTTTGTTGGCTTTATTGCTGCTGTTATGTTGTCCAATTTCAAAGGCAGAAAATTAGAAAATACAGAAGAATCCAAAGCAAATAATACAAATCTTTTTTTTTTTTTTTTTTTGAGGTGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGACACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCGGCACCTGCCACCACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACCGCGCCCGGCCCCATTATACAAATCTTTAGTGCTTGGAGAGCTGACCACTATTAACCCCAAGAGACAGGATTCCTGAGGCAGACCTGGCTTACAGATCCCACTCTGCCGCCTCCAAGCTCTGTGACTCTAGACAGCTTTCTTAACCTCTCTGAGCCTAAACTCTGCTCACTAGTACAGAGGCACTCTTTACATCATGTGGGTGTTTTCTATAGCACCCTTTGTAAGGGGCAGCCCAGACTCCTTTAAGCCCCTAATGGATGTGGATGCTGTGTCTAGATTTTCACCATTGCAAAGAACCTTGCTAAAAGCATTCTTCCAGCTAAAGCCTCCATTCAATTCCCCTGGGGTAGTAAGCCATTTGCAAGAAGAGAGGCGCCTAATGAAAACATCACAAATTCTTTTTGATGTGTTTTTTTATACTGAGTTGTGGAACAGGGTCCTGTACACCTGGCTTCAAGGCTGGGAGGCCTGGCTTGGACATGTGGTCAGCCATATCACGTCGTCCCCCTGCCAGCCTCAGTGTCCACATCTACAACACTTGGGGTTTGGCTGGAGAGAACATGAGAAGCCGAGGTGGCCCTTCCTTCTGGGTCTAGCAGAGCATGGGTGTCTCCAGTGTGGCATTTGCTCCTGGGGCTTCTTTATCGGGCAAGGGGACAAGGTCTGGCTTCCCGGAGCATCCCTGTTCCAGCCCCGTGTTGTGCCGGCCATGTGACTCACAGCTCCTCTCATTTTCATGAGTGTCTGGGTTTGACGAGAAATACATGTGCCACCCTGGTGATACGCCTCCCCAGCGAGGGTGGCCGGGCTTATTTCAGTTGGGGGAAATGGCTTTGCTGAAGCTTTGGGTGGGTGACGTCTGCTTAGGATGCATGTCTGTGCCCTTGAACCCGGCGCCTGGCCTGGAGGCGGGCGATGCACCTCCTGCCTTACCTGCCTGCAGGGTTCCAGGTTTAACATCCTGCGCCTTCTCTCCTGCCTCCTCCACACTCCAGGCTGGACCTGTACCGAGCCTCGGATAAATTTGAGCTTCTTGATAGAATTCTTCCCAAACTCCGAGCAACCAACCACAAAGTGCTGCTGTTCTGCCAAATGACCTCCCTCATGACCATCATGGAAGATTACTTTGCGTATCGCGGCTTTAAATACCTCAGGCTTGATGGTGAGTATGAGCCAGTGAGGCGTTTCTTACAGGGTTTTGTTGTTGTGGCTGCCACAGAAGCTCCTCACTGGCATTCCCTCCTGTGAGGCAGGGTGAGGCCCAGGCGCTCTGGGTCCAGTGGCCAGAGTGGGCCTAGCCACAGGCTGAGCATCTTGGGCACTCGGCACTGGGACAGGCCGTGGATTGGACGCCGGGTGTCCTGACTCCTAGGCTGACAGTCTTTCCACGACAATGCTGGGCGCACTGGGGAAGGGGTGCCCTGTGCACTTTTAGCTGGAAGTGACAGAATTCCATACCATGTGGACACAGGAAAGAAAGCACCAATAGGCTTACATAGCTCTAACCCCAGGAGGTTAAACATCCTTCAGGCACAGCTGGATCCAGGCATGCAGGTGATATTGGAGAGACTTTTCTCCAGCTCTTTGCTCTGCCTTCTTCCATCTTGGCTTCCTTTCCACCTGCTCAGTGTCCCCAACAAAGGCAGGTCCCAGGCTGGCTCTCATTTAGCTGCTGTGAGCCGCATGCCCATCCCTGGGCCATTCGTAGCAGCCCAGTGACTGCCACCTTGCCACAGGTCAGGCCTGGACCTGGAATCAGACTCTGTGGTGAGCACGGAGGGAGGGAAGCAAGCACTGCCAGGCAGGAGCAGCAGCTGCCGTAGAGAGGCTCTCAGCCCAACCCCCTGCCCTGCGGTCCCTGATGGGAAAGGTCACCGCCTGTGTTTCTGCGCCTGCCTGCCCCAGCACACGGGAGCTCAGGGAGGAGAGGCTGTGAGATGCCGACAGGGCACGTGAGACATGTCTGTCAGTCCCAGTGGGTCAGGGAGCCCTGGAGTGAGTTCTTCGTGGGAGTTACTAGAACTGGGCTTACGAGAAACACGAGCATGAGCTGCTGAGACAGACACGGCTCAGCCAGTTTGTTGTTCCCTACACGACCTCCCAGAGCCTTTGTTGAAGCTCCTGTGCAAGGTCTGTCTCACAGCAGGACACCCCAGACCTCCATACCCCTTGTCCCGTTGATCACTTGGACCTGTGTTTGCTGGGCCAACCTGCCCAGGTGCCACCCGGAGTGTGCCCTGTGTGTCCCTCCAAACTGCAGGTCCTCCCCGGGGTTCTGTCCAGGACCACTCTACAGACACGAGTCTGTTGCAGGGGTCTCCCCGGCTTGCCTTCTTCCTTGGGGGCTTCCCACTTTCAGCTTTGAGGCTGAAAACCAAAATCCTTCAGGGTCCTCATGGCCGGGCCACCCCCCACCCTTTCCTCTCCTACGGTCTCTCCAGCGGCTTCTCCCGTCCTCGAGAGGGCCAAGGCTTCCTGAGGGCCATCCCGTCTGTGTCGTGTCCCTGACTCCCCCAGGAGAGAGCCTGGTTCCCACCCATCCCAGTGCCCTTCTGCCTACTCCATAAGGACAAGGACTTTGGTCAGTTGAACTACAGATGTGTCCTCTGCATGTGATGTGGTCATGGCCACAGGGCCAGAGAATCCATTGCGAGTAGAGGAAGGGTAGGAGCTCAGTGAAGTCTCCTGAGACTGCATCTCCCATGGGTGGGCTGGCATCTGGGAGCCGGGTGGCCCCTCACCTCAGCCCCTCCTCCGAGCTGGAGTAGCAGGGGCACATCTGGTGCCTGAGAGAGGGTGGGACGGCAGGTGGATGGCCAGGCTACTGTGGGCTTCTGCACCGTGCCTGGGCATGTGTAGGCTGGTGGCAGGAAATGGCCAGTTTTTATTTCTTCTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCGCCTGGATTCAAGCGATTCTCCTGCCTCATCCTCCCTGGTATCTGGGATTACAGGCGCCCGCCACTACGCCCAGCTAATTTTCTTGTATTTT 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Task1_train_26438 | A variant has been detected on Chromosome 19 in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Intellectual disability, autosomal dominant 16 | GTCAGGGAGCCCTGGAGTGAGTTCTTCGTGGGAGTTACTAGAACTGGGCTTACGAGAAACACGAGCATGAGCTGCTGAGACAGACACGGCTCAGCCAGTTTGTTGTTCCCTACACGACCTCCCAGAGCCTTTGTTGAAGCTCCTGTGCAAGGTCTGTCTCACAGCAGGACACCCCAGACCTCCATACCCCTTGTCCCGTTGATCACTTGGACCTGTGTTTGCTGGGCCAACCTGCCCAGGTGCCACCCGGAGTGTGCCCTGTGTGTCCCTCCAAACTGCAGGTCCTCCCCGGGGTTCTGTCCAGGACCACTCTACAGACACGAGTCTGTTGCAGGGGTCTCCCCGGCTTGCCTTCTTCCTTGGGGGCTTCCCACTTTCAGCTTTGAGGCTGAAAACCAAAATCCTTCAGGGTCCTCATGGCCGGGCCACCCCCCACCCTTTCCTCTCCTACGGTCTCTCCAGCGGCTTCTCCCGTCCTCGAGAGGGCCAAGGCTTCCTGAGGGCCATCCCGTCTGTGTCGTGTCCCTGACTCCCCCAGGAGAGAGCCTGGTTCCCACCCATCCCAGTGCCCTTCTGCCTACTCCATAAGGACAAGGACTTTGGTCAGTTGAACTACAGATGTGTCCTCTGCATGTGATGTGGTCATGGCCACAGGGCCAGAGAATCCATTGCGAGTAGAGGAAGGGTAGGAGCTCAGTGAAGTCTCCTGAGACTGCATCTCCCATGGGTGGGCTGGCATCTGGGAGCCGGGTGGCCCCTCACCTCAGCCCCTCCTCCGAGCTGGAGTAGCAGGGGCACATCTGGTGCCTGAGAGAGGGTGGGACGGCAGGTGGATGGCCAGGCTACTGTGGGCTTCTGCACCGTGCCTGGGCATGTGTAGGCTGGTGGCAGGAAATGGCCAGTTTTTATTTCTTCTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCGCCTGGATTCAAGCGATTCTCCTGCCTCATCCTCCCTGGTATCTGGGATTACAGGCGCCCGCCACTACGCCCAGCTAATTTTCTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGTCCTCAGGCGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGTCACCGCGCCCGGCCTGCCAGTTTTTATTTCATCACCAAAATGACTTCAGTGTTCAGGGGCACCTCTGTCCGAACTCCCAGCAGCGCAGGGAGTGTTGACATTGCCTTAATGCCCACAACGCTGAGGGCATCGTGGGTTGTCACCCAGGAGACCTGCTCTGGCTCCTTGACTTGGGTTTTCTGGGGCATGGGGACACTGATCCTGCCAGAAAGGACACGAGCCCCCTTTATAAGGTCTCCATGCTTTTACCGTAGAAGATTCTCTTTGTGAACCACAAAACTTTTTGAGACAGGGCTGAAGGCAGGTGCACCCACAGTCACTGTCCACCCACCCCCAGGTCCCTTGTGTTGCGAGCGGCGGTGTTGCCGGCATTGGCCGCTGTGTCTTCCGCTCCCCATGGAATGGCACAGGGTAGAGTAGAGGAGAGAATCCAGGGCTGTGGTGGTGGTGGCTGTGCTGACGCTGGACGCTGTGGCCTAGCTGTGGGCTGGGTGCTGGACTCTGTGCTCCAGGCCCACCTCCTCTAGTTCTCCCAGCGGGGCCTGTTTTCATTTCTGGGATGTGTGGAGAGACGTTTTGTGGTGAAACACTGGAAATCCAGTTATTCGCCAGTGGCCCACAGGCCCGTGTGGAGAGTGCGGAGCCAGGGATCTGGGGATGCTGGCAGGTGCTGATCCTGCTCCTGCTCTCAGAAGCAGGTGTTCCTTGGTGTCCCCACTCTACCCCTGAGGTCACCCCGCTGACCCTGTTCTCCTCTGTGCCCGTCAGGAACCACGAAGGCGGAGGACCGGGGCATGCTGCTGAAAACCTTCAACGAGCCCGGCTCTGAGTACTTCATCTTCCTGCTCAGCACCCGGGCTGGGGGGCTCGGCCTGAACCTCCAGTCGGCAGACACTGTGATCATTTTTGACAGCGACTGGAATCCTCACCAGGTAAAAGCGGGCCGGGCCCCAGGTCGAGGAGAAGGAAGGGGGTGCCTGCAAAACCTCGAGGAGACGGCCCTGGCTTGAGGGTCCTCCAGCCTCCTCCACATTGTCTTGGACCCCAGGAGCCGGGAGGAGCTGCACCCATATCTCCATAGGTCATCAGGGAGAAAAGAGGCGGGGTCCTCCTGTTTCCCAAAATACAAACAGCCTTTCCCTCTGATTGGGAAAGCAGTGTATAAGCCATCCGTCGGTTTGGTTTTTCTTAAATCTTGGAATGGCACCCATGAGGAGGTGGAAAGTATCCTGATCAATCTGCGCCGTCACTGTGGGGCGGCCCCTGCAGTGTGCCCTGTGAGCACACACACTGGCGCTTGTTCAGACACAATTGGGGGTAAACTCCATGCCACTTCGTTTACTTCCTCCTCTTGTTCCATAACCATGTACCCCTCATGGGCCTCGGCATCGGTGGATACCAGGTCATGCTGTTACATAGCTACAAGAATTTGAAAATGAGTTAAACTTTTCTCTGTGTTTCATTATAAGACTGATAAGTTCTTATTGTTTTTAACATGTAAACACCAGTGACAGTCAGGAGTCCCTTTTCCCTTCCTCTCCAACCGTGCTCTCTTCTGAGCCTCTGCCAGCCCATCTGCCTTCGCACATGTATGTACTGAGATTAACACAGATGCGGCGTGGCCTAGCATGTGCCTCTTCCACCAAGCAGTGGGTGTCAACCGCCGAGTGCACATCGGAAGCTACCCAGCCATCTAATCGGCCACCAGGCGTCCCGGCAGATGGCCACCCCTGGACGTCTGCTCTCAAACTCTGGTTGGCAGGCATCCGTCTTTTCTGTTGATCAGCCTGGTCACCAACCCAGCAGGGTCCCTCTTTCTCTCAGAGTGCTTGTGCAAACACCCTAGGTCTGCGCAGCCCTCAGACATGGGGTCGCTCCACCCCAGACATTGTCCTCTTCGTGTTCTGGTTGCTACTGCCAAAGTGGTTTCACTCCTACGCTGGGGTGTGAATGTACCCTGCCCTTCCCTGCAGCGTGAGGGCAGCAGCGTTCTCAGTGTGTAAATTGTCGCTTGTCTGATGGGTGAATGCCGTGGTGGTCACTGGTGGCCCCTTTTACGATCAGGCTGGGGTGTAGCTTCTGCCCAGACCCTGGTGACCAGCCAGTTTCTTAGGAGGTGGTTGAGTTGTGTGTCCCCGTTGGCAGGCCGGCAGCAGGCGGAAGCTGCACCTCAGGGCTGGGGGCGCGTTGGGGAGGGCTGGCCCTGCCAGGAAGTGTGCTGACAGGGCAGGAGGGCTGAGCGGCAGACACAAGGCACTCCTGGTCCCCACCAGCTGTGGCCTCTGCCACCCCATGGGTGCCAGTCTTAAGTTTCAGAGCATCACTGGTACTCACCCTGGTCCTGCAGCTCCTGGGCCCAGAGACAGGATTTCGTGTTAGCCTCCTCGTACTGTGCTGGGGTGATGATAAAACTAACAACCCAGGCTGGACGCAGTGGCTCACACCCGAAATCCCAACATTTTGGGAGGCCGAGGTGGGTGGATCAACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAGCCCCAGCTACTCAGGAAGCTGAGGCAGAAAAATCGCTTGAACTTCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGAAAAAAAGCCCATCCACGGCACCTGCATTGTTGGGAGCTAACTGCACCAGTCACTGGGCCACACTCCTGGTGCTTATTCACTCATTCGAGGTATGCAGTAGCCACGGGTTGGGCCCCATGTAGGCTGAGGGAGTTTTGAGGCTCACAGAGGTGAGACCTGGTTCCGGTTCTGTGTGCACTG 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GTCAGGGAGCCCTGGAGTGAGTTCTTCGTGGGAGTTACTAGAACTGGGCTTACGAGAAACACGAGCATGAGCTGCTGAGACAGACACGGCTCAGCCAGTTTGTTGTTCCCTACACGACCTCCCAGAGCCTTTGTTGAAGCTCCTGTGCAAGGTCTGTCTCACAGCAGGACACCCCAGACCTCCATACCCCTTGTCCCGTTGATCACTTGGACCTGTGTTTGCTGGGCCAACCTGCCCAGGTGCCACCCGGAGTGTGCCCTGTGTGTCCCTCCAAACTGCAGGTCCTCCCCGGGGTTCTGTCCAGGACCACTCTACAGACACGAGTCTGTTGCAGGGGTCTCCCCGGCTTGCCTTCTTCCTTGGGGGCTTCCCACTTTCAGCTTTGAGGCTGAAAACCAAAATCCTTCAGGGTCCTCATGGCCGGGCCACCCCCCACCCTTTCCTCTCCTACGGTCTCTCCAGCGGCTTCTCCCGTCCTCGAGAGGGCCAAGGCTTCCTGAGGGCCATCCCGTCTGTGTCGTGTCCCTGACTCCCCCAGGAGAGAGCCTGGTTCCCACCCATCCCAGTGCCCTTCTGCCTACTCCATAAGGACAAGGACTTTGGTCAGTTGAACTACAGATGTGTCCTCTGCATGTGATGTGGTCATGGCCACAGGGCCAGAGAATCCATTGCGAGTAGAGGAAGGGTAGGAGCTCAGTGAAGTCTCCTGAGACTGCATCTCCCATGGGTGGGCTGGCATCTGGGAGCCGGGTGGCCCCTCACCTCAGCCCCTCCTCCGAGCTGGAGTAGCAGGGGCACATCTGGTGCCTGAGAGAGGGTGGGACGGCAGGTGGATGGCCAGGCTACTGTGGGCTTCTGCACCGTGCCTGGGCATGTGTAGGCTGGTGGCAGGAAATGGCCAGTTTTTATTTCTTCTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCGCCTGGATTCAAGCGATTCTCCTGCCTCATCCTCCCTGGTATCTGGGATTACAGGCGCCCGCCACTACGCCCAGCTAATTTTCTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGTCCTCAGGCGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGTCACCGCGCCCGGCCTGCCAGTTTTTATTTCATCACCAAAATGACTTCAGTGTTCAGGGGCACCTCTGTCCGAACTCCCAGCAGCGCAGGGAGTGTTGACATTGCCTTAATGCCCACAACGCTGAGGGCATCGTGGGTTGTCACCCAGGAGACCTGCTCTGGCTCCTTGACTTGGGTTTTCTGGGGCATGGGGACACTGATCCTGCCAGAAAGGACACGAGCCCCCTTTATAAGGTCTCCATGCTTTTACCGTAGAAGATTCTCTTTGTGAACCACAAAACTTTTTGAGACAGGGCTGAAGGCAGGTGCACCCACAGTCACTGTCCACCCACCCCCAGGTCCCTTGTGTTGCGAGCGGCGGTGTTGCCGGCATTGGCCGCTGTGTCTTCCGCTCCCCATGGAATGGCACAGGGTAGAGTAGAGGAGAGAATCCAGGGCTGTGGTGGTGGTGGCTGTGCTGACGCTGGACGCTGTGGCCTAGCTGTGGGCTGGGTGCTGGACTCTGTGCTCCAGGCCCACCTCCTCTAGTTCTCCCAGCGGGGCCTGTTTTCATTTCTGGGATGTGTGGAGAGACGTTTTGTGGTGAAACACTGGAAATCCAGTTATTCGCCAGTGGCCCACAGGCCCGTGTGGAGAGTGCGGAGCCAGGGATCTGGGGATGCTGGCAGGTGCTGATCCTGCTCCTGCTCTCAGAAGCAGGTGTTCCTTGGTGTCCCCACTCTACCCCTGAGGTCACCCCGCTGACCCTGTTCTCCTCTGTGCCCGTCAGGAACCACGAAGGCGGAGGACCGGGGCATGCTGCTGAAAACCTTCAACGAGCCCGGCTCTGAGTACTTCATCTTCCTGCTCAGCACCGGGGCTGGGGGGCTCGGCCTGAACCTCCAGTCGGCAGACACTGTGATCATTTTTGACAGCGACTGGAATCCTCACCAGGTAAAAGCGGGCCGGGCCCCAGGTCGAGGAGAAGGAAGGGGGTGCCTGCAAAACCTCGAGGAGACGGCCCTGGCTTGAGGGTCCTCCAGCCTCCTCCACATTGTCTTGGACCCCAGGAGCCGGGAGGAGCTGCACCCATATCTCCATAGGTCATCAGGGAGAAAAGAGGCGGGGTCCTCCTGTTTCCCAAAATACAAACAGCCTTTCCCTCTGATTGGGAAAGCAGTGTATAAGCCATCCGTCGGTTTGGTTTTTCTTAAATCTTGGAATGGCACCCATGAGGAGGTGGAAAGTATCCTGATCAATCTGCGCCGTCACTGTGGGGCGGCCCCTGCAGTGTGCCCTGTGAGCACACACACTGGCGCTTGTTCAGACACAATTGGGGGTAAACTCCATGCCACTTCGTTTACTTCCTCCTCTTGTTCCATAACCATGTACCCCTCATGGGCCTCGGCATCGGTGGATACCAGGTCATGCTGTTACATAGCTACAAGAATTTGAAAATGAGTTAAACTTTTCTCTGTGTTTCATTATAAGACTGATAAGTTCTTATTGTTTTTAACATGTAAACACCAGTGACAGTCAGGAGTCCCTTTTCCCTTCCTCTCCAACCGTGCTCTCTTCTGAGCCTCTGCCAGCCCATCTGCCTTCGCACATGTATGTACTGAGATTAACACAGATGCGGCGTGGCCTAGCATGTGCCTCTTCCACCAAGCAGTGGGTGTCAACCGCCGAGTGCACATCGGAAGCTACCCAGCCATCTAATCGGCCACCAGGCGTCCCGGCAGATGGCCACCCCTGGACGTCTGCTCTCAAACTCTGGTTGGCAGGCATCCGTCTTTTCTGTTGATCAGCCTGGTCACCAACCCAGCAGGGTCCCTCTTTCTCTCAGAGTGCTTGTGCAAACACCCTAGGTCTGCGCAGCCCTCAGACATGGGGTCGCTCCACCCCAGACATTGTCCTCTTCGTGTTCTGGTTGCTACTGCCAAAGTGGTTTCACTCCTACGCTGGGGTGTGAATGTACCCTGCCCTTCCCTGCAGCGTGAGGGCAGCAGCGTTCTCAGTGTGTAAATTGTCGCTTGTCTGATGGGTGAATGCCGTGGTGGTCACTGGTGGCCCCTTTTACGATCAGGCTGGGGTGTAGCTTCTGCCCAGACCCTGGTGACCAGCCAGTTTCTTAGGAGGTGGTTGAGTTGTGTGTCCCCGTTGGCAGGCCGGCAGCAGGCGGAAGCTGCACCTCAGGGCTGGGGGCGCGTTGGGGAGGGCTGGCCCTGCCAGGAAGTGTGCTGACAGGGCAGGAGGGCTGAGCGGCAGACACAAGGCACTCCTGGTCCCCACCAGCTGTGGCCTCTGCCACCCCATGGGTGCCAGTCTTAAGTTTCAGAGCATCACTGGTACTCACCCTGGTCCTGCAGCTCCTGGGCCCAGAGACAGGATTTCGTGTTAGCCTCCTCGTACTGTGCTGGGGTGATGATAAAACTAACAACCCAGGCTGGACGCAGTGGCTCACACCCGAAATCCCAACATTTTGGGAGGCCGAGGTGGGTGGATCAACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAGCCCCAGCTACTCAGGAAGCTGAGGCAGAAAAATCGCTTGAACTTCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGAAAAAAAGCCCATCCACGGCACCTGCATTGTTGGGAGCTAACTGCACCAGTCACTGGGCCACACTCCTGGTGCTTATTCACTCATTCGAGGTATGCAGTAGCCACGGGTTGGGCCCCATGTAGGCTGAGGGAGTTTTGAGGCTCACAGAGGTGAGACCTGGTTCCGGTTCTGTGTGCACTG 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Task1_train_26439 | This alteration occurs within gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | ACTGGCGCTTGTTCAGACACAATTGGGGGTAAACTCCATGCCACTTCGTTTACTTCCTCCTCTTGTTCCATAACCATGTACCCCTCATGGGCCTCGGCATCGGTGGATACCAGGTCATGCTGTTACATAGCTACAAGAATTTGAAAATGAGTTAAACTTTTCTCTGTGTTTCATTATAAGACTGATAAGTTCTTATTGTTTTTAACATGTAAACACCAGTGACAGTCAGGAGTCCCTTTTCCCTTCCTCTCCAACCGTGCTCTCTTCTGAGCCTCTGCCAGCCCATCTGCCTTCGCACATGTATGTACTGAGATTAACACAGATGCGGCGTGGCCTAGCATGTGCCTCTTCCACCAAGCAGTGGGTGTCAACCGCCGAGTGCACATCGGAAGCTACCCAGCCATCTAATCGGCCACCAGGCGTCCCGGCAGATGGCCACCCCTGGACGTCTGCTCTCAAACTCTGGTTGGCAGGCATCCGTCTTTTCTGTTGATCAGCCTGGTCACCAACCCAGCAGGGTCCCTCTTTCTCTCAGAGTGCTTGTGCAAACACCCTAGGTCTGCGCAGCCCTCAGACATGGGGTCGCTCCACCCCAGACATTGTCCTCTTCGTGTTCTGGTTGCTACTGCCAAAGTGGTTTCACTCCTACGCTGGGGTGTGAATGTACCCTGCCCTTCCCTGCAGCGTGAGGGCAGCAGCGTTCTCAGTGTGTAAATTGTCGCTTGTCTGATGGGTGAATGCCGTGGTGGTCACTGGTGGCCCCTTTTACGATCAGGCTGGGGTGTAGCTTCTGCCCAGACCCTGGTGACCAGCCAGTTTCTTAGGAGGTGGTTGAGTTGTGTGTCCCCGTTGGCAGGCCGGCAGCAGGCGGAAGCTGCACCTCAGGGCTGGGGGCGCGTTGGGGAGGGCTGGCCCTGCCAGGAAGTGTGCTGACAGGGCAGGAGGGCTGAGCGGCAGACACAAGGCACTCCTGGTCCCCACCAGCTGTGGCCTCTGCCACCCCATGGGTGCCAGTCTTAAGTTTCAGAGCATCACTGGTACTCACCCTGGTCCTGCAGCTCCTGGGCCCAGAGACAGGATTTCGTGTTAGCCTCCTCGTACTGTGCTGGGGTGATGATAAAACTAACAACCCAGGCTGGACGCAGTGGCTCACACCCGAAATCCCAACATTTTGGGAGGCCGAGGTGGGTGGATCAACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAGCCCCAGCTACTCAGGAAGCTGAGGCAGAAAAATCGCTTGAACTTCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGAAAAAAAGCCCATCCACGGCACCTGCATTGTTGGGAGCTAACTGCACCAGTCACTGGGCCACACTCCTGGTGCTTATTCACTCATTCGAGGTATGCAGTAGCCACGGGTTGGGCCCCATGTAGGCTGAGGGAGTTTTGAGGCTCACAGAGGTGAGACCTGGTTCCGGTTCTGTGTGCACTGTGAGAGTGGCAGGGCCCACAGCCAAACCAAGCACTGCCACAACACGGCCGAGCTTCGGCCCCCTGTTGTAAATGGTGCTCGACTGTGTAGGTCCACGCTGTGGGGAGCTGTGCCGCTGCCACGGGAGCTGCTTGAGAATATAATCCCCTGGGGGGTTGGTGCTTTCTTCCCGAATATCTGTGGGGTCCCAATAAGGTAGAAGGTGGCACTTCTGGAGGAACGTGATGAGAGTCCCCTTCCCCCGAGGGACACATGGCGGCCCAGGCTCCACCAGCTCTGTTTTCATGCGGCGGCAGGTCAGGCTGGGCAGAATTGTCAGGCCGAGGGTGGCACGCACAGCACACCTCTCCAGCTAGTGTCAGAGGCCACCTTCCCTTTTATGACCTCCTGGGCTCCTTTGGGACTGACTGGCACCTCTTCCCCCAGGACCTGCAAGCGCAGGACCGAGCCCACCGCATCGGGCAGCAGAACGAGGTGCGTGTGCTCCGCCTCTGCACCGTCAACAGCGTGGAGGAGAAGATCCTAGCTGCAGCCAAGTACAAGCTCAACGTGGACCAGAAGGTGATCCAGGCCGGCATGTTCGACCAGAAGTCCTCCAGCCATGAGCGGCGCGCCTTCCTGCAGGCCATCCTGGAGCACGAGGAGCAGGATGAGGTGAGCCCAGCACCGGCCCCGACCCCTCCCCAGCGTGAATGGTGGACGCGTGAGCGGCTTTCATTTTTGTTTTTTTACCTTTTTTGCACTCTTATTTTTTTTGCATCCCTTTGGAGTAAAGGGAGTGTGGGCTGAACGGAAAGAGGATGAGTACTTGCTTTTTCTTTGAAGTGGTTTTTTTTTCTAAACTGCTGGTGAAAGACGCCGGATTGACAGCCCTGGAGACTGAAGTCCTCTATTTATCCACAGAGCAGACACTGCAGCACGGGCAGCGGCAGTGCCAGCTTCGCCCACACTGCCCCTCCGCCAGCGGGCGTCAACCCCGACTTGGAGGAGCCACCTCTAAAGGTGAGAGGGGTAGTTCAGTCTCCATGCCCATTCAATCCTCGGCTTCTCGGCTGAGACGGCCAGCAAGGGCCCTGGTCCCACGGAGCGTGCGTGTGCGTGTGCGTGTGTGTGCCTTTCGCTGCCGTGTGGGTCCCCATCCACCGCAGCCGTGCCGGGACCACCAGCTCATTCCCACGGACGCCGCCGCTCGCCTCTGAGCTCGGCCGCCGCCCACCCCGGCCCCTCCTCAGCGGCACTGACAGTTTGCAATCTTATAGGAGGAAGACGAGGTGCCCGACGACGAGACCGTCAACCAGATGATCGCCCGGCACGAGGAGGAGTTTGATCTGTTCATGGTAAGCGCTGCAGGCTGGATGGGGCAGTTCAGGCATCCCACTCTGCTGCCACCAGGAGCAAAGCAGACGTCCTAGTGCCCATGGTGGTATCCCTAGCAGGTCAGGGAGCCAGGGACAGCTCACAGTGCAGCCCACTCCCACCTCCAGACTGACCCGTCTTCCACCCCCAGTCTCCTGAGGATGGCATCGGAGGGCGAGATGCACACCCAGCCTTCTGCATGTGACCCGAGACCTGCCCCACCAGCTCTGTTTTCTAACGGGCTCTCCAGGGCTTCATGCACTCCCTTTCAGAGGGAGTTCGCCCTATCCAAGGCCAAGGGACTGACCAGGCCTTCAGTCGCAGAGCCCCCTTGCCCCTGGGTGGGAAACAGGAAATAAGCCACCCAAGCAGGGGCCCCTTGGCCCGCAGGCCTCATGCCTCCACCAACGCTGGGCCACGCAGCTGCTGCCCCCCTGCTGGGGTCTGCAGCCCTCTTGTGCAACCTTCCATCTTTTCGAGTTTCCTCTGCCTCCTGAGGCAGAGCCTCTAGTCAGGGTCTGACGGAGCCAGGCCAGGTCAGCCACTGAAAAATCGAGAGCTACTGTTTAACTCTCGCAGCAGCGTGGAGCCCCACGGGCAGAGAAAGGCCCTTCTGAACTCTCGGTGTTCTGGCTCTAGCGTGCCCCTGGTGCCTGCATGCTGATGCCTCTCCCGTTGCCTCCCTGCCCACCAGCGCATGGACCTGGACCGCAGGCGCGAGGAGGCCCGCAACCCCAAGCGGAAGCCGCGCCTCATGGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGACGACGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAGGAGGAGAAGATGTTCGGCCGTGGCTCCCGCCACCGCAAGGAGGTGGACTACAGCGACTCACTGACGGAGAAGCAGTGGCTCAAGGTACATGCTGGAGAGGCCCAGCAGCTGCCGCAGGCCAGCGCCAGGCAGGGCTGGGGAGACAAAGGGCCCACCGCCAGGACTCAGGCCTGGGTCCAAAATGCTTTCCTTGGGCCACTCCTGGCCAGGCTCCGCAGGCAGCCGAGAGCCTTCCGATGTGGGCCAGGGATGGTCAGGTCCTTTTGGCTCTGCCTTGGAATGCAAGAAGGACCCACGG 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ACTGGCGCTTGTTCAGACACAATTGGGGGTAAACTCCATGCCACTTCGTTTACTTCCTCCTCTTGTTCCATAACCATGTACCCCTCATGGGCCTCGGCATCGGTGGATACCAGGTCATGCTGTTACATAGCTACAAGAATTTGAAAATGAGTTAAACTTTTCTCTGTGTTTCATTATAAGACTGATAAGTTCTTATTGTTTTTAACATGTAAACACCAGTGACAGTCAGGAGTCCCTTTTCCCTTCCTCTCCAACCGTGCTCTCTTCTGAGCCTCTGCCAGCCCATCTGCCTTCGCACATGTATGTACTGAGATTAACACAGATGCGGCGTGGCCTAGCATGTGCCTCTTCCACCAAGCAGTGGGTGTCAACCGCCGAGTGCACATCGGAAGCTACCCAGCCATCTAATCGGCCACCAGGCGTCCCGGCAGATGGCCACCCCTGGACGTCTGCTCTCAAACTCTGGTTGGCAGGCATCCGTCTTTTCTGTTGATCAGCCTGGTCACCAACCCAGCAGGGTCCCTCTTTCTCTCAGAGTGCTTGTGCAAACACCCTAGGTCTGCGCAGCCCTCAGACATGGGGTCGCTCCACCCCAGACATTGTCCTCTTCGTGTTCTGGTTGCTACTGCCAAAGTGGTTTCACTCCTACGCTGGGGTGTGAATGTACCCTGCCCTTCCCTGCAGCGTGAGGGCAGCAGCGTTCTCAGTGTGTAAATTGTCGCTTGTCTGATGGGTGAATGCCGTGGTGGTCACTGGTGGCCCCTTTTACGATCAGGCTGGGGTGTAGCTTCTGCCCAGACCCTGGTGACCAGCCAGTTTCTTAGGAGGTGGTTGAGTTGTGTGTCCCCGTTGGCAGGCCGGCAGCAGGCGGAAGCTGCACCTCAGGGCTGGGGGCGCGTTGGGGAGGGCTGGCCCTGCCAGGAAGTGTGCTGACAGGGCAGGAGGGCTGAGCGGCAGACACAAGGCACTCCTGGTCCCCACCAGCTGTGGCCTCTGCCACCCCATGGGTGCCAGTCTTAAGTTTCAGAGCATCACTGGTACTCACCCTGGTCCTGCAGCTCCTGGGCCCAGAGACAGGATTTCGTGTTAGCCTCCTCGTACTGTGCTGGGGTGATGATAAAACTAACAACCCAGGCTGGACGCAGTGGCTCACACCCGAAATCCCAACATTTTGGGAGGCCGAGGTGGGTGGATCAACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAGCCCCAGCTACTCAGGAAGCTGAGGCAGAAAAATCGCTTGAACTTCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGAAAAAAAGCCCATCCACGGCACCTGCATTGTTGGGAGCTAACTGCACCAGTCACTGGGCCACACTCCTGGTGCTTATTCACTCATTCGAGGTATGCAGTAGCCACGGGTTGGGCCCCATGTAGGCTGAGGGAGTTTTGAGGCTCACAGAGGTGAGACCTGGTTCCGGTTCTGTGTGCACTGTGAGAGTGGCAGGGCCCACAGCCAAACCAAGCACTGCCACAACACGGCCGAGCTTCGGCCCCCTGTTGTAAATGGTGCTCGACTGTGTAGGTCCACGCTGTGGGGAGCTGTGCCGCTGCCACGGGAGCTGCTTGAGAATATAATCCCCTGGGGGGTTGGTGCTTTCTTCCCGAATATCTGTGGGGTCCCAATAAGGTAGAAGGTGGCACTTCTGGAGGAACGTGATGAGAGTCCCCTTCCCCCGAGGGACACATGGCGGCCCAGGCTCCACCAGCTCTGTTTTCATGCGGCGGCAGGTCAGGCTGGGCAGAATTGTCAGGCCGAGGGTGGCACGCACAGCACACCTCTCCAGCTAGTGTCAGAGGCCACCTTCCCTTTTATGACCTCCTGGGCTCCTTTGGGACTGACTGGCACCTCTTCCCCCAGGACCTGCAAACGCAGGACCGAGCCCACCGCATCGGGCAGCAGAACGAGGTGCGTGTGCTCCGCCTCTGCACCGTCAACAGCGTGGAGGAGAAGATCCTAGCTGCAGCCAAGTACAAGCTCAACGTGGACCAGAAGGTGATCCAGGCCGGCATGTTCGACCAGAAGTCCTCCAGCCATGAGCGGCGCGCCTTCCTGCAGGCCATCCTGGAGCACGAGGAGCAGGATGAGGTGAGCCCAGCACCGGCCCCGACCCCTCCCCAGCGTGAATGGTGGACGCGTGAGCGGCTTTCATTTTTGTTTTTTTACCTTTTTTGCACTCTTATTTTTTTTGCATCCCTTTGGAGTAAAGGGAGTGTGGGCTGAACGGAAAGAGGATGAGTACTTGCTTTTTCTTTGAAGTGGTTTTTTTTTCTAAACTGCTGGTGAAAGACGCCGGATTGACAGCCCTGGAGACTGAAGTCCTCTATTTATCCACAGAGCAGACACTGCAGCACGGGCAGCGGCAGTGCCAGCTTCGCCCACACTGCCCCTCCGCCAGCGGGCGTCAACCCCGACTTGGAGGAGCCACCTCTAAAGGTGAGAGGGGTAGTTCAGTCTCCATGCCCATTCAATCCTCGGCTTCTCGGCTGAGACGGCCAGCAAGGGCCCTGGTCCCACGGAGCGTGCGTGTGCGTGTGCGTGTGTGTGCCTTTCGCTGCCGTGTGGGTCCCCATCCACCGCAGCCGTGCCGGGACCACCAGCTCATTCCCACGGACGCCGCCGCTCGCCTCTGAGCTCGGCCGCCGCCCACCCCGGCCCCTCCTCAGCGGCACTGACAGTTTGCAATCTTATAGGAGGAAGACGAGGTGCCCGACGACGAGACCGTCAACCAGATGATCGCCCGGCACGAGGAGGAGTTTGATCTGTTCATGGTAAGCGCTGCAGGCTGGATGGGGCAGTTCAGGCATCCCACTCTGCTGCCACCAGGAGCAAAGCAGACGTCCTAGTGCCCATGGTGGTATCCCTAGCAGGTCAGGGAGCCAGGGACAGCTCACAGTGCAGCCCACTCCCACCTCCAGACTGACCCGTCTTCCACCCCCAGTCTCCTGAGGATGGCATCGGAGGGCGAGATGCACACCCAGCCTTCTGCATGTGACCCGAGACCTGCCCCACCAGCTCTGTTTTCTAACGGGCTCTCCAGGGCTTCATGCACTCCCTTTCAGAGGGAGTTCGCCCTATCCAAGGCCAAGGGACTGACCAGGCCTTCAGTCGCAGAGCCCCCTTGCCCCTGGGTGGGAAACAGGAAATAAGCCACCCAAGCAGGGGCCCCTTGGCCCGCAGGCCTCATGCCTCCACCAACGCTGGGCCACGCAGCTGCTGCCCCCCTGCTGGGGTCTGCAGCCCTCTTGTGCAACCTTCCATCTTTTCGAGTTTCCTCTGCCTCCTGAGGCAGAGCCTCTAGTCAGGGTCTGACGGAGCCAGGCCAGGTCAGCCACTGAAAAATCGAGAGCTACTGTTTAACTCTCGCAGCAGCGTGGAGCCCCACGGGCAGAGAAAGGCCCTTCTGAACTCTCGGTGTTCTGGCTCTAGCGTGCCCCTGGTGCCTGCATGCTGATGCCTCTCCCGTTGCCTCCCTGCCCACCAGCGCATGGACCTGGACCGCAGGCGCGAGGAGGCCCGCAACCCCAAGCGGAAGCCGCGCCTCATGGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGACGACGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAGGAGGAGAAGATGTTCGGCCGTGGCTCCCGCCACCGCAAGGAGGTGGACTACAGCGACTCACTGACGGAGAAGCAGTGGCTCAAGGTACATGCTGGAGAGGCCCAGCAGCTGCCGCAGGCCAGCGCCAGGCAGGGCTGGGGAGACAAAGGGCCCACCGCCAGGACTCAGGCCTGGGTCCAAAATGCTTTCCTTGGGCCACTCCTGGCCAGGCTCCGCAGGCAGCCGAGAGCCTTCCGATGTGGGCCAGGGATGGTCAGGTCCTTTTGGCTCTGCCTTGGAATGCAAGAAGGACCCACGG 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Task1_train_26440 | The variant affects gene LDLR-AS1, LDLR (LDLR antisense RNA 1| low density lipoprotein receptor), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hypercholesterolemia, familial, 1 | CATTTATAAACGTTGCAGCAGCTCCTAGAACTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCGCTAATTATTTCAATTTGACCTTGACACTGAGCCTGCCAAGTAGGTTCAAGCATTTTGATGGCCCCTTTACAGGTTGGGAAAGCTAATTTATCTGTCCAAGGCCGAATTCTGAAACTGAGTCTTAACTGCCAAAAATTCTTATCATCAATTTCTTCTTCTGGGTTGGGCACAGTGGCTCATGCCTGTAAAGCCAGCAATTTGAGAGGCATCATGATGCAAGAGGAAGAGGATTGAGTGAAGCTAGGAGTTTGGGACCAGCCTGGGCAACATAGTGAGACCCCATCTATAAAAAAAAATTAAAAATTAGTTGGGCATGGTGGTGCACTCCTGTGGTCCTAGCTATTCAGGAGGCTGAGGTGGGAGGATTCCTTGAGCCCAGGGTTGACGCTGCAGAGAGCTGTGATCACGCCACTGCAGTCCAGCCTGAGTGACAGCTGGAAATAATGATAAATAAATAATAAATAATTATTTAAAAAATTATAATAAAAATAATTAAAAAATTATTTTCCCTGATTAATCTTTTTTTTTGTCCTTCTGAGAGTTCAATTTGTCCCTTTTCTGCCTGGTCTCCTAGGTTTCCCTAAAATCCTGCTGAGAGGTTAGCACTGCCTGCCAAAGTCAGTTTGCAAAATCCCAGAGAAATCCAGCTTATTCCTGGGGGAACCGCCAAGACTGCCCAGCCCTGTGTGGGGTTCAGGCAAGTTTCTCACATGTGCCTTTTTGGCAAGAGGCCTCTGGCAACCCCATGAGTCCCCAAAGAGACTCAATTCTAAAAGTTGGTCTCCACCAGCTCTCTGTGGCTTAGGGGTTCAAGTTCAACTGTGAAAGCCCTGTTTTGTTTTGATTTTGCTTTGAGGGAGAGGAAACCGCCCTTCTGTTTGTTCAACTCCTTCTCCTAAGGGGAGAAATCAATATTTACGTCCAGACTCCAGGTATCCGTACAATTGATTTTTCAGATGTTTATACTCAGCCAAAGGCGGGATCCCACAAAACAAAAAATATTTTTTTGGCTGTACTTTTGTGAAGATTTTATTTAAATTCCTGATTGATCAGTGTCTATTAGGTGATTTGGAATAACAATGTAAAAACAATATACAACGAAAGGAAGCTAAAAATCTATACACAATTCCTAGAAAGGAAAAGGCAAATATAGAAAGTGGCGGAAGTTCCCAACATTTTTAGTGTTTTCCTTTTGAGGCAGAGAGGACAATGGCATTAGGCTATTGGAGGATCTTGAAAGGCTGTTGTTATCCTTCTGTGGACAACAACAGCAAAATGTTAACAGTTAAACATCGAGAAATTTCAGGAGGATCTTTCAGAAGATGCGTTTCCAATTTTGAGGGGGCGTCAGCTCTTCACCGGAGACCCAAATACAACAAATCAAGTCGCCTGCCCTGGCGACACTTTCGAAGGACTGGAGTGGGAATCAGAGCTTCACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCCCGAGTGCAATCGCGGGAAGCCAGGGTTTCCAGCTAGGACACAGCAGGTCGTGATCCGGGTCGGGACACTGCCTGGCAGAGGCTGCGAGCATGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTTGCTCCTCGCCGCGGCGGGGACTGCAGGTAAGGCTTGCTCCAGGCGCCAGAATAGGTTGAGAGGGAGCCCCCGGGGGGCCCTTGGGAATTTATTTTTTTGGGTACAAATAATCACTCCATCCCTGGGAGACTTGTGGGGTAATGGCACGGGGTCCTTCCCAAACGGCTGGAGGGGGCGCTGGAGGGGGGCGCTGAGGGGAGCGCGAGGGTCGGGAGGAGTCTGAGGGATTTAAGGGAAACGGGGCACCGCTGTCCCCCAAGTCTCCACAGGGTGAGGGACCGCATCTTCTTTGAGACGGAGTCTAGCTCTGTCGCCCAGGATGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGAGTCTCCTCTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCAACCACCACGCCCGCCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATTTTGGCCAGGCTGGTCTCGAACCCCGACCTCAGGTGATCTGCCCAAAAGTGCTGGGATTACAGGCGTCAGCCACCGCGCCCGGCCGGGACCCTCTCTTCTAACTCGGAGCTGGGTGTGGGGACCTCCAGTCCTAAAACAAGGGATCACTCCCACCCCCGCCTTAAGTCCTTCTGGGGGCGAGGGCGACTGGAGACCCGGATGTCCAGCCTGGAGGTCACCGCGGGCTCAGGGGTCCCGATCCGCTTTGCGCGACCCCAGGGCGCCACTGCCATCCTGAGTTGGGTGCAGTCCCGGGATTCCGCCGCGTGCTCCGGGACGGGGGCCACCCCCTCCCGCCCCTGCCCCCGCCCCTTTGGCCCGCCCCCCGAATTCCATTGGGTGTAGTCCAACAGGCCACCCTCGAGCCACTCCCCTTGTCCAATGTGAGGCGGTGGAGGCGGAGGCGGGCGTCGGGAGGACGGGGCTTGTGTACGAGCGGGGCGGGGCTGGCGCGGAAGTCTGAGCCTCACCTTGTCCGGGGCGAGGCGGATGCAGGGGAGGCCTGGCGTTCCTCCGCGGTTCCTGTCACAAAGGCGACGACAAGTCCCGGGTCCCCGGAGCCGCCTCCGCGACATACACGAGTCGCCCTCCGTTATCCTGGGCCCTCCTGGCGAAGTCCCCGGTTTCCGCTGTGCTCTGTGGCGACACCTCCGTCCCCACCTTGTCCTGGGGGGCGCCCTCGCCCCACCAGCCCCGATCAAGTTCACAGAGGGGCCCCCGGCCACCCTCAAGGCCTCGGTTCCTTACGAGGTTGAAACGTTGCCTCAGAATCTCCCCGCCCCTCCTTGGTCTGCAGCCGAGATCTTCAGCCACGGTGGGGCAGCTATCCCCCGGGACCGACCCCCTGGGGTGGCCTCGCTTCTTCAGAGGCTGTGAATGGCTTCGGTTCAGCTGTCCAAGCGGCGATTTTTCCTCTGGGTGAAATGGATTAGATTTTAGATTTCCACAAGAGGCTGGTTAGTGCATGATCCTGAGTTAGAGCTTTTTAGGTGGCTTTAAATTAGTTGCAGAGAGACAGCCTCGCCCTAGACAACAGCTACATGGCCCTTTCCCTCCTGAGAACCAGCCTAGCCTAGAAAAGGATTGGGATTGCCTGATGAACACAAGGATTGCAGGAAACTTTTTTTTTAATTGGCAAGGGGGTTGGCTTTGACTGGATGGAGAGCTTTGAACTGCCTTGAAATTCACGCTGTAACTAACACACCAGTTTCCTCTGGGAGGCCAGAGAGGGAGGGAGGGTGTAATGAAATACGGATGATTGTTCTTTTATTTTTATTTACTTATTTATTTTTTAACTTTTTGTAGAGATGAGGTCTCGCTTGGTTGCTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTACCTCAGCCTCCCAAAGTGTTGGGATTACAGGAGTGAGCCACCGCGCCCCACCGGGGATGATGATGATTGCAAACATTCTGCCACTCAGTTTTACAAAAGAAAGAGAGGCACTGGATTAATGTG 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CATTTATAAACGTTGCAGCAGCTCCTAGAACTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCGCTAATTATTTCAATTTGACCTTGACACTGAGCCTGCCAAGTAGGTTCAAGCATTTTGATGGCCCCTTTACAGGTTGGGAAAGCTAATTTATCTGTCCAAGGCCGAATTCTGAAACTGAGTCTTAACTGCCAAAAATTCTTATCATCAATTTCTTCTTCTGGGTTGGGCACAGTGGCTCATGCCTGTAAAGCCAGCAATTTGAGAGGCATCATGATGCAAGAGGAAGAGGATTGAGTGAAGCTAGGAGTTTGGGACCAGCCTGGGCAACATAGTGAGACCCCATCTATAAAAAAAAATTAAAAATTAGTTGGGCATGGTGGTGCACTCCTGTGGTCCTAGCTATTCAGGAGGCTGAGGTGGGAGGATTCCTTGAGCCCAGGGTTGACGCTGCAGAGAGCTGTGATCACGCCACTGCAGTCCAGCCTGAGTGACAGCTGGAAATAATGATAAATAAATAATAAATAATTATTTAAAAAATTATAATAAAAATAATTAAAAAATTATTTTCCCTGATTAATCTTTTTTTTTGTCCTTCTGAGAGTTCAATTTGTCCCTTTTCTGCCTGGTCTCCTAGGTTTCCCTAAAATCCTGCTGAGAGGTTAGCACTGCCTGCCAAAGTCAGTTTGCAAAATCCCAGAGAAATCCAGCTTATTCCTGGGGGAACCGCCAAGACTGCCCAGCCCTGTGTGGGGTTCAGGCAAGTTTCTCACATGTGCCTTTTTGGCAAGAGGCCTCTGGCAACCCCATGAGTCCCCAAAGAGACTCAATTCTAAAAGTTGGTCTCCACCAGCTCTCTGTGGCTTAGGGGTTCAAGTTCAACTGTGAAAGCCCTGTTTTGTTTTGATTTTGCTTTGAGGGAGAGGAAACCGCCCTTCTGTTTGTTCAACTCCTTCTCCTAAGGGGAGAAATCAATATTTACGTCCAGACTCCAGGTATCCGTACAATTGATTTTTCAGATGTTTATACTCAGCCAAAGGCGGGATCCCACAAAACAAAAAATATTTTTTTGGCTGTACTTTTGTGAAGATTTTATTTAAATTCCTGATTGATCAGTGTCTATTAGGTGATTTGGAATAACAATGTAAAAACAATATACAACGAAAGGAAGCTAAAAATCTATACACAATTCCTAGAAAGGAAAAGGCAAATATAGAAAGTGGCGGAAGTTCCCAACATTTTTAGTGTTTTCCTTTTGAGGCAGAGAGGACAATGGCATTAGGCTATTGGAGGATCTTGAAAGGCTGTTGTTATCCTTCTGTGGACAACAACAGCAAAATGTTAACAGTTAAACATCGAGAAATTTCAGGAGGATCTTTCAGAAGATGCGTTTCCAATTTTGAGGGGGCGTCAGCTCTTCACCGGAGACCCAAATACAACAAATCAAGTCGCCTGCCCTGGCGACACTTTCGAAGGACTGGAGTGGGAATCAGAGCTTCACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCCCGAGTGCAATCGCGGGAAGCCAGGGTTTCCAGCTAGGACACAGCAGGTCGTGATCCGGGTCGGGACACTGCCTGGCAGAGGCTGCGAGCCTGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTTGCTCCTCGCCGCGGCGGGGACTGCAGGTAAGGCTTGCTCCAGGCGCCAGAATAGGTTGAGAGGGAGCCCCCGGGGGGCCCTTGGGAATTTATTTTTTTGGGTACAAATAATCACTCCATCCCTGGGAGACTTGTGGGGTAATGGCACGGGGTCCTTCCCAAACGGCTGGAGGGGGCGCTGGAGGGGGGCGCTGAGGGGAGCGCGAGGGTCGGGAGGAGTCTGAGGGATTTAAGGGAAACGGGGCACCGCTGTCCCCCAAGTCTCCACAGGGTGAGGGACCGCATCTTCTTTGAGACGGAGTCTAGCTCTGTCGCCCAGGATGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGAGTCTCCTCTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCAACCACCACGCCCGCCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATTTTGGCCAGGCTGGTCTCGAACCCCGACCTCAGGTGATCTGCCCAAAAGTGCTGGGATTACAGGCGTCAGCCACCGCGCCCGGCCGGGACCCTCTCTTCTAACTCGGAGCTGGGTGTGGGGACCTCCAGTCCTAAAACAAGGGATCACTCCCACCCCCGCCTTAAGTCCTTCTGGGGGCGAGGGCGACTGGAGACCCGGATGTCCAGCCTGGAGGTCACCGCGGGCTCAGGGGTCCCGATCCGCTTTGCGCGACCCCAGGGCGCCACTGCCATCCTGAGTTGGGTGCAGTCCCGGGATTCCGCCGCGTGCTCCGGGACGGGGGCCACCCCCTCCCGCCCCTGCCCCCGCCCCTTTGGCCCGCCCCCCGAATTCCATTGGGTGTAGTCCAACAGGCCACCCTCGAGCCACTCCCCTTGTCCAATGTGAGGCGGTGGAGGCGGAGGCGGGCGTCGGGAGGACGGGGCTTGTGTACGAGCGGGGCGGGGCTGGCGCGGAAGTCTGAGCCTCACCTTGTCCGGGGCGAGGCGGATGCAGGGGAGGCCTGGCGTTCCTCCGCGGTTCCTGTCACAAAGGCGACGACAAGTCCCGGGTCCCCGGAGCCGCCTCCGCGACATACACGAGTCGCCCTCCGTTATCCTGGGCCCTCCTGGCGAAGTCCCCGGTTTCCGCTGTGCTCTGTGGCGACACCTCCGTCCCCACCTTGTCCTGGGGGGCGCCCTCGCCCCACCAGCCCCGATCAAGTTCACAGAGGGGCCCCCGGCCACCCTCAAGGCCTCGGTTCCTTACGAGGTTGAAACGTTGCCTCAGAATCTCCCCGCCCCTCCTTGGTCTGCAGCCGAGATCTTCAGCCACGGTGGGGCAGCTATCCCCCGGGACCGACCCCCTGGGGTGGCCTCGCTTCTTCAGAGGCTGTGAATGGCTTCGGTTCAGCTGTCCAAGCGGCGATTTTTCCTCTGGGTGAAATGGATTAGATTTTAGATTTCCACAAGAGGCTGGTTAGTGCATGATCCTGAGTTAGAGCTTTTTAGGTGGCTTTAAATTAGTTGCAGAGAGACAGCCTCGCCCTAGACAACAGCTACATGGCCCTTTCCCTCCTGAGAACCAGCCTAGCCTAGAAAAGGATTGGGATTGCCTGATGAACACAAGGATTGCAGGAAACTTTTTTTTTAATTGGCAAGGGGGTTGGCTTTGACTGGATGGAGAGCTTTGAACTGCCTTGAAATTCACGCTGTAACTAACACACCAGTTTCCTCTGGGAGGCCAGAGAGGGAGGGAGGGTGTAATGAAATACGGATGATTGTTCTTTTATTTTTATTTACTTATTTATTTTTTAACTTTTTGTAGAGATGAGGTCTCGCTTGGTTGCTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTACCTCAGCCTCCCAAAGTGTTGGGATTACAGGAGTGAGCCACCGCGCCCCACCGGGGATGATGATGATTGCAAACATTCTGCCACTCAGTTTTACAAAAGAAAGAGAGGCACTGGATTAATGTG 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Task1_train_26441 | Given this context: Chromosome 19, gene LDLR, LDLR-AS1 (low density lipoprotein receptor| LDLR antisense RNA 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hypercholesterolemia, familial, 1 | CATTTATAAACGTTGCAGCAGCTCCTAGAACTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCGCTAATTATTTCAATTTGACCTTGACACTGAGCCTGCCAAGTAGGTTCAAGCATTTTGATGGCCCCTTTACAGGTTGGGAAAGCTAATTTATCTGTCCAAGGCCGAATTCTGAAACTGAGTCTTAACTGCCAAAAATTCTTATCATCAATTTCTTCTTCTGGGTTGGGCACAGTGGCTCATGCCTGTAAAGCCAGCAATTTGAGAGGCATCATGATGCAAGAGGAAGAGGATTGAGTGAAGCTAGGAGTTTGGGACCAGCCTGGGCAACATAGTGAGACCCCATCTATAAAAAAAAATTAAAAATTAGTTGGGCATGGTGGTGCACTCCTGTGGTCCTAGCTATTCAGGAGGCTGAGGTGGGAGGATTCCTTGAGCCCAGGGTTGACGCTGCAGAGAGCTGTGATCACGCCACTGCAGTCCAGCCTGAGTGACAGCTGGAAATAATGATAAATAAATAATAAATAATTATTTAAAAAATTATAATAAAAATAATTAAAAAATTATTTTCCCTGATTAATCTTTTTTTTTGTCCTTCTGAGAGTTCAATTTGTCCCTTTTCTGCCTGGTCTCCTAGGTTTCCCTAAAATCCTGCTGAGAGGTTAGCACTGCCTGCCAAAGTCAGTTTGCAAAATCCCAGAGAAATCCAGCTTATTCCTGGGGGAACCGCCAAGACTGCCCAGCCCTGTGTGGGGTTCAGGCAAGTTTCTCACATGTGCCTTTTTGGCAAGAGGCCTCTGGCAACCCCATGAGTCCCCAAAGAGACTCAATTCTAAAAGTTGGTCTCCACCAGCTCTCTGTGGCTTAGGGGTTCAAGTTCAACTGTGAAAGCCCTGTTTTGTTTTGATTTTGCTTTGAGGGAGAGGAAACCGCCCTTCTGTTTGTTCAACTCCTTCTCCTAAGGGGAGAAATCAATATTTACGTCCAGACTCCAGGTATCCGTACAATTGATTTTTCAGATGTTTATACTCAGCCAAAGGCGGGATCCCACAAAACAAAAAATATTTTTTTGGCTGTACTTTTGTGAAGATTTTATTTAAATTCCTGATTGATCAGTGTCTATTAGGTGATTTGGAATAACAATGTAAAAACAATATACAACGAAAGGAAGCTAAAAATCTATACACAATTCCTAGAAAGGAAAAGGCAAATATAGAAAGTGGCGGAAGTTCCCAACATTTTTAGTGTTTTCCTTTTGAGGCAGAGAGGACAATGGCATTAGGCTATTGGAGGATCTTGAAAGGCTGTTGTTATCCTTCTGTGGACAACAACAGCAAAATGTTAACAGTTAAACATCGAGAAATTTCAGGAGGATCTTTCAGAAGATGCGTTTCCAATTTTGAGGGGGCGTCAGCTCTTCACCGGAGACCCAAATACAACAAATCAAGTCGCCTGCCCTGGCGACACTTTCGAAGGACTGGAGTGGGAATCAGAGCTTCACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCCCGAGTGCAATCGCGGGAAGCCAGGGTTTCCAGCTAGGACACAGCAGGTCGTGATCCGGGTCGGGACACTGCCTGGCAGAGGCTGCGAGCATGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTTGCTCCTCGCCGCGGCGGGGACTGCAGGTAAGGCTTGCTCCAGGCGCCAGAATAGGTTGAGAGGGAGCCCCCGGGGGGCCCTTGGGAATTTATTTTTTTGGGTACAAATAATCACTCCATCCCTGGGAGACTTGTGGGGTAATGGCACGGGGTCCTTCCCAAACGGCTGGAGGGGGCGCTGGAGGGGGGCGCTGAGGGGAGCGCGAGGGTCGGGAGGAGTCTGAGGGATTTAAGGGAAACGGGGCACCGCTGTCCCCCAAGTCTCCACAGGGTGAGGGACCGCATCTTCTTTGAGACGGAGTCTAGCTCTGTCGCCCAGGATGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGAGTCTCCTCTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCAACCACCACGCCCGCCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATTTTGGCCAGGCTGGTCTCGAACCCCGACCTCAGGTGATCTGCCCAAAAGTGCTGGGATTACAGGCGTCAGCCACCGCGCCCGGCCGGGACCCTCTCTTCTAACTCGGAGCTGGGTGTGGGGACCTCCAGTCCTAAAACAAGGGATCACTCCCACCCCCGCCTTAAGTCCTTCTGGGGGCGAGGGCGACTGGAGACCCGGATGTCCAGCCTGGAGGTCACCGCGGGCTCAGGGGTCCCGATCCGCTTTGCGCGACCCCAGGGCGCCACTGCCATCCTGAGTTGGGTGCAGTCCCGGGATTCCGCCGCGTGCTCCGGGACGGGGGCCACCCCCTCCCGCCCCTGCCCCCGCCCCTTTGGCCCGCCCCCCGAATTCCATTGGGTGTAGTCCAACAGGCCACCCTCGAGCCACTCCCCTTGTCCAATGTGAGGCGGTGGAGGCGGAGGCGGGCGTCGGGAGGACGGGGCTTGTGTACGAGCGGGGCGGGGCTGGCGCGGAAGTCTGAGCCTCACCTTGTCCGGGGCGAGGCGGATGCAGGGGAGGCCTGGCGTTCCTCCGCGGTTCCTGTCACAAAGGCGACGACAAGTCCCGGGTCCCCGGAGCCGCCTCCGCGACATACACGAGTCGCCCTCCGTTATCCTGGGCCCTCCTGGCGAAGTCCCCGGTTTCCGCTGTGCTCTGTGGCGACACCTCCGTCCCCACCTTGTCCTGGGGGGCGCCCTCGCCCCACCAGCCCCGATCAAGTTCACAGAGGGGCCCCCGGCCACCCTCAAGGCCTCGGTTCCTTACGAGGTTGAAACGTTGCCTCAGAATCTCCCCGCCCCTCCTTGGTCTGCAGCCGAGATCTTCAGCCACGGTGGGGCAGCTATCCCCCGGGACCGACCCCCTGGGGTGGCCTCGCTTCTTCAGAGGCTGTGAATGGCTTCGGTTCAGCTGTCCAAGCGGCGATTTTTCCTCTGGGTGAAATGGATTAGATTTTAGATTTCCACAAGAGGCTGGTTAGTGCATGATCCTGAGTTAGAGCTTTTTAGGTGGCTTTAAATTAGTTGCAGAGAGACAGCCTCGCCCTAGACAACAGCTACATGGCCCTTTCCCTCCTGAGAACCAGCCTAGCCTAGAAAAGGATTGGGATTGCCTGATGAACACAAGGATTGCAGGAAACTTTTTTTTTAATTGGCAAGGGGGTTGGCTTTGACTGGATGGAGAGCTTTGAACTGCCTTGAAATTCACGCTGTAACTAACACACCAGTTTCCTCTGGGAGGCCAGAGAGGGAGGGAGGGTGTAATGAAATACGGATGATTGTTCTTTTATTTTTATTTACTTATTTATTTTTTAACTTTTTGTAGAGATGAGGTCTCGCTTGGTTGCTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTACCTCAGCCTCCCAAAGTGTTGGGATTACAGGAGTGAGCCACCGCGCCCCACCGGGGATGATGATGATTGCAAACATTCTGCCACTCAGTTTTACAAAAGAAAGAGAGGCACTGGATTAATGTG 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CATTTATAAACGTTGCAGCAGCTCCTAGAACTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCGCTAATTATTTCAATTTGACCTTGACACTGAGCCTGCCAAGTAGGTTCAAGCATTTTGATGGCCCCTTTACAGGTTGGGAAAGCTAATTTATCTGTCCAAGGCCGAATTCTGAAACTGAGTCTTAACTGCCAAAAATTCTTATCATCAATTTCTTCTTCTGGGTTGGGCACAGTGGCTCATGCCTGTAAAGCCAGCAATTTGAGAGGCATCATGATGCAAGAGGAAGAGGATTGAGTGAAGCTAGGAGTTTGGGACCAGCCTGGGCAACATAGTGAGACCCCATCTATAAAAAAAAATTAAAAATTAGTTGGGCATGGTGGTGCACTCCTGTGGTCCTAGCTATTCAGGAGGCTGAGGTGGGAGGATTCCTTGAGCCCAGGGTTGACGCTGCAGAGAGCTGTGATCACGCCACTGCAGTCCAGCCTGAGTGACAGCTGGAAATAATGATAAATAAATAATAAATAATTATTTAAAAAATTATAATAAAAATAATTAAAAAATTATTTTCCCTGATTAATCTTTTTTTTTGTCCTTCTGAGAGTTCAATTTGTCCCTTTTCTGCCTGGTCTCCTAGGTTTCCCTAAAATCCTGCTGAGAGGTTAGCACTGCCTGCCAAAGTCAGTTTGCAAAATCCCAGAGAAATCCAGCTTATTCCTGGGGGAACCGCCAAGACTGCCCAGCCCTGTGTGGGGTTCAGGCAAGTTTCTCACATGTGCCTTTTTGGCAAGAGGCCTCTGGCAACCCCATGAGTCCCCAAAGAGACTCAATTCTAAAAGTTGGTCTCCACCAGCTCTCTGTGGCTTAGGGGTTCAAGTTCAACTGTGAAAGCCCTGTTTTGTTTTGATTTTGCTTTGAGGGAGAGGAAACCGCCCTTCTGTTTGTTCAACTCCTTCTCCTAAGGGGAGAAATCAATATTTACGTCCAGACTCCAGGTATCCGTACAATTGATTTTTCAGATGTTTATACTCAGCCAAAGGCGGGATCCCACAAAACAAAAAATATTTTTTTGGCTGTACTTTTGTGAAGATTTTATTTAAATTCCTGATTGATCAGTGTCTATTAGGTGATTTGGAATAACAATGTAAAAACAATATACAACGAAAGGAAGCTAAAAATCTATACACAATTCCTAGAAAGGAAAAGGCAAATATAGAAAGTGGCGGAAGTTCCCAACATTTTTAGTGTTTTCCTTTTGAGGCAGAGAGGACAATGGCATTAGGCTATTGGAGGATCTTGAAAGGCTGTTGTTATCCTTCTGTGGACAACAACAGCAAAATGTTAACAGTTAAACATCGAGAAATTTCAGGAGGATCTTTCAGAAGATGCGTTTCCAATTTTGAGGGGGCGTCAGCTCTTCACCGGAGACCCAAATACAACAAATCAAGTCGCCTGCCCTGGCGACACTTTCGAAGGACTGGAGTGGGAATCAGAGCTTCACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCCCGAGTGCAATCGCGGGAAGCCAGGGTTTCCAGCTAGGACACAGCAGGTCGTGATCCGGGTCGGGACACTGCCTGGCAGAGGCTGCGAGCTTGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTTGCTCCTCGCCGCGGCGGGGACTGCAGGTAAGGCTTGCTCCAGGCGCCAGAATAGGTTGAGAGGGAGCCCCCGGGGGGCCCTTGGGAATTTATTTTTTTGGGTACAAATAATCACTCCATCCCTGGGAGACTTGTGGGGTAATGGCACGGGGTCCTTCCCAAACGGCTGGAGGGGGCGCTGGAGGGGGGCGCTGAGGGGAGCGCGAGGGTCGGGAGGAGTCTGAGGGATTTAAGGGAAACGGGGCACCGCTGTCCCCCAAGTCTCCACAGGGTGAGGGACCGCATCTTCTTTGAGACGGAGTCTAGCTCTGTCGCCCAGGATGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGAGTCTCCTCTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCAACCACCACGCCCGCCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATTTTGGCCAGGCTGGTCTCGAACCCCGACCTCAGGTGATCTGCCCAAAAGTGCTGGGATTACAGGCGTCAGCCACCGCGCCCGGCCGGGACCCTCTCTTCTAACTCGGAGCTGGGTGTGGGGACCTCCAGTCCTAAAACAAGGGATCACTCCCACCCCCGCCTTAAGTCCTTCTGGGGGCGAGGGCGACTGGAGACCCGGATGTCCAGCCTGGAGGTCACCGCGGGCTCAGGGGTCCCGATCCGCTTTGCGCGACCCCAGGGCGCCACTGCCATCCTGAGTTGGGTGCAGTCCCGGGATTCCGCCGCGTGCTCCGGGACGGGGGCCACCCCCTCCCGCCCCTGCCCCCGCCCCTTTGGCCCGCCCCCCGAATTCCATTGGGTGTAGTCCAACAGGCCACCCTCGAGCCACTCCCCTTGTCCAATGTGAGGCGGTGGAGGCGGAGGCGGGCGTCGGGAGGACGGGGCTTGTGTACGAGCGGGGCGGGGCTGGCGCGGAAGTCTGAGCCTCACCTTGTCCGGGGCGAGGCGGATGCAGGGGAGGCCTGGCGTTCCTCCGCGGTTCCTGTCACAAAGGCGACGACAAGTCCCGGGTCCCCGGAGCCGCCTCCGCGACATACACGAGTCGCCCTCCGTTATCCTGGGCCCTCCTGGCGAAGTCCCCGGTTTCCGCTGTGCTCTGTGGCGACACCTCCGTCCCCACCTTGTCCTGGGGGGCGCCCTCGCCCCACCAGCCCCGATCAAGTTCACAGAGGGGCCCCCGGCCACCCTCAAGGCCTCGGTTCCTTACGAGGTTGAAACGTTGCCTCAGAATCTCCCCGCCCCTCCTTGGTCTGCAGCCGAGATCTTCAGCCACGGTGGGGCAGCTATCCCCCGGGACCGACCCCCTGGGGTGGCCTCGCTTCTTCAGAGGCTGTGAATGGCTTCGGTTCAGCTGTCCAAGCGGCGATTTTTCCTCTGGGTGAAATGGATTAGATTTTAGATTTCCACAAGAGGCTGGTTAGTGCATGATCCTGAGTTAGAGCTTTTTAGGTGGCTTTAAATTAGTTGCAGAGAGACAGCCTCGCCCTAGACAACAGCTACATGGCCCTTTCCCTCCTGAGAACCAGCCTAGCCTAGAAAAGGATTGGGATTGCCTGATGAACACAAGGATTGCAGGAAACTTTTTTTTTAATTGGCAAGGGGGTTGGCTTTGACTGGATGGAGAGCTTTGAACTGCCTTGAAATTCACGCTGTAACTAACACACCAGTTTCCTCTGGGAGGCCAGAGAGGGAGGGAGGGTGTAATGAAATACGGATGATTGTTCTTTTATTTTTATTTACTTATTTATTTTTTAACTTTTTGTAGAGATGAGGTCTCGCTTGGTTGCTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTACCTCAGCCTCCCAAAGTGTTGGGATTACAGGAGTGAGCCACCGCGCCCCACCGGGGATGATGATGATTGCAAACATTCTGCCACTCAGTTTTACAAAAGAAAGAGAGGCACTGGATTAATGTG 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Task1_train_26442 | This alteration occurs within gene LDLR (low density lipoprotein receptor) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Hypercholesterolemia, familial, 1 | GTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTT | GTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGGGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTT 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Task1_train_26443 | This mutation is located in gene LDLR (low density lipoprotein receptor) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypercholesterolemia, familial, 1 | TCCAGCCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAG | TCCAGCCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAATACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAG 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Task1_train_26444 | Located on Chromosome 19, this mutation impacts LDLR (low density lipoprotein receptor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hypercholesterolemia, familial, 1 | GTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTT 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GTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATTCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTT 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Task1_train_26445 | Consider a variant on Chromosome 19 in gene LDLR (low density lipoprotein receptor). Determine its clinical classification and disease relevance. | Pathogenic; Hypercholesterolemia, familial, 1 | ATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCAC 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ATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTTCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCAC 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Task1_train_26446 | This mutation occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Familial hypercholesterolemia | AATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGT 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AATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCACTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGT 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Task1_train_26447 | Consider a variant on Chromosome 19 in gene LDLR (low density lipoprotein receptor). Determine its clinical classification and disease relevance. | Pathogenic; Hypercholesterolemia, familial, 1 | TCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCA 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TCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCGGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCA 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Task1_train_26448 | A variant was discovered on Chromosome 19, affecting LDLR (low density lipoprotein receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | GTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTG 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GTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGGGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTG 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Task1_train_26449 | Here’s a variant in LDLR (low density lipoprotein receptor) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hypercholesterolemia, familial, 1 | TGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGC 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TGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAAGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGC 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Task1_train_26450 | The gene LDLR (low density lipoprotein receptor) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hypercholesterolemia, familial, 1 | TTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACC 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TTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCAATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACC 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Task1_train_26451 | A variant was discovered in gene LDLR (low density lipoprotein receptor), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hypercholesterolemia, familial, 1 | TAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCC 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TAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGGTGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCC 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Task1_train_26452 | Chromosome 19 houses a mutation in gene LDLR (low density lipoprotein receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hypercholesterolemia, familial, 1 | AATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCA 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AATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGAAGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCA 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Task1_train_26453 | The gene LDLR (low density lipoprotein receptor) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hypercholesterolemia, familial, 1 | CTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACA 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CTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGAGGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACA 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Task1_train_26454 | A sequence alteration has been identified in LDLR (low density lipoprotein receptor) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Hypercholesterolemia, familial, 1 | TCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACAT 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TCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACAAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACAT 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Task1_train_26455 | Assess the clinical impact of this variant on gene LDLR (low density lipoprotein receptor), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hypercholesterolemia, familial, 1 | TCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCA 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TCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTCTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCA 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Task1_train_26456 | A variant was discovered on Chromosome 19, affecting LDLR (low density lipoprotein receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | AAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAA 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AAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCATAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAA 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Task1_train_26457 | A change on Chromosome 19 affects gene LDLR (low density lipoprotein receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hypercholesterolemia, familial, 1 | GAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTAT 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GAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGGATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTAT 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Task1_train_26458 | A variant affecting Chromosome 19, within the gene LDLR (low density lipoprotein receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial hypercholesterolemia | TTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGC 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TTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTAGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGC 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Task1_train_26459 | Located on Chromosome 19, this mutation impacts LDLR (low density lipoprotein receptor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hypercholesterolemia, familial, 1 | GAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCA 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GAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGGCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCA 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Task1_train_26460 | Gene LDLR (low density lipoprotein receptor), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hypercholesterolemia, familial, 1 | AGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAG 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AGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCGGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAG 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Task1_train_26461 | Given a variant located on Chromosome 19 and affecting LDLR (low density lipoprotein receptor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | CTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGG 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CTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGGCCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGG 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Task1_train_26462 | A change on Chromosome 19 affects gene LDLR (low density lipoprotein receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cardiovascular phenotype | CTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACA 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CTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACAGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACA 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Task1_train_26463 | The following genetic variant occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial hypercholesterolemia | CTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACA 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CTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACGGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACA 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Task1_train_26464 | The gene LDLR (low density lipoprotein receptor) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hypercholesterolemia, familial, 1 | GCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCT 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GCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGAAGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCT 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Task1_train_26465 | A variant affecting Chromosome 19, within the gene LDLR (low density lipoprotein receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypercholesterolemia, familial, 1 | CACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTT 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CACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACAAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTT 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Task1_train_26466 | A variant affecting Chromosome 19, within the gene LDLR (low density lipoprotein receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypercholesterolemia, familial, 1 | CAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACT | CAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTCGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACT 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Task1_train_26467 | A variant affecting Chromosome 19, within the gene LDLR (low density lipoprotein receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial hypercholesterolemia | GCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGC 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GCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCACCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGC 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Task1_train_26468 | Gene LDLR (low density lipoprotein receptor) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypercholesterolemia, familial, 1 | TTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCT 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TTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTCCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCT 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Task1_train_26469 | Consider this mutation in LDLR (low density lipoprotein receptor) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Hypercholesterolemia, familial, 1 | ATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGG 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ATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTTGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGG 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Task1_train_26470 | A variant found in Chromosome 19 affects LDLR (low density lipoprotein receptor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | GTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATC 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GTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTATAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATC 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Task1_train_26471 | A genetic alteration is present in LDLR (low density lipoprotein receptor) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hypercholesterolemia, familial, 1 | AAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGC 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AAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCACCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGC 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Task1_train_26472 | Gene LDLR (low density lipoprotein receptor) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypercholesterolemia, familial, 1 | CAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAG | CAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGAGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAG |
Task1_train_26473 | A genetic alteration is present in LDLR (low density lipoprotein receptor) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hypercholesterolemia, familial, 1 | AGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGA | AGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTTGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGA 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Task1_train_26474 | The gene LDLR (low density lipoprotein receptor) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hypercholesterolemia, familial, 1 | GGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGC | GGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCCTCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGC |
Task1_train_26475 | The gene LDLR (low density lipoprotein receptor) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hypercholesterolemia, familial, 1 | CCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAA | CCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCACTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAA |
Task1_train_26476 | An alteration has been detected in LDLR (low density lipoprotein receptor) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hypercholesterolemia, familial, 1 | CTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCC 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CTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCTACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCC 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Task1_train_26477 | A mutation on Chromosome 19 affecting LDLR (low density lipoprotein receptor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | TGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCT 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TGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGGCTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCT 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Task1_train_26478 | Consider a variant on Chromosome 19 in gene LDLR (low density lipoprotein receptor). Determine its clinical classification and disease relevance. | Pathogenic; Hypercholesterolemia, familial, 1 | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTT 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TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGGCGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTT 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Task1_train_26479 | The following genetic variant occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hypercholesterolemia, familial, 1 | AGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTT 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AGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACAAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTT 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Task1_train_26480 | A mutation on Chromosome 19 affecting LDLR (low density lipoprotein receptor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | GTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCA 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GTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGATGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCA 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Task1_train_26481 | Given this variant in gene LDLR (low density lipoprotein receptor) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hypercholesterolemia, familial, 1 | TCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAG 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TCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACAAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAG 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Task1_train_26482 | Given a variant located on Chromosome 19 and affecting LDLR (low density lipoprotein receptor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | CTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCA 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CTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATGCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCA 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Task1_train_26483 | This sequence change occurs on Chromosome 19, altering LDLR (low density lipoprotein receptor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hypercholesterolemia, familial, 1 | GGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGT 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GGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGTAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGT 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Task1_train_26484 | A genomic change on Chromosome 19 affects LDLR (low density lipoprotein receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hypercholesterolemia, familial, 1 | GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTT | GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTTTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTT 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Task1_train_26485 | A mutation on Chromosome 19 affecting LDLR (low density lipoprotein receptor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | TTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCA 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TTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCAATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCA 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Task1_train_26486 | A variant affecting Chromosome 19, within the gene LDLR (low density lipoprotein receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypercholesterolemia, familial, 1 | TTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCA 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TTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCTATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCA 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Task1_train_26487 | A variant found in Chromosome 19 affects LDLR (low density lipoprotein receptor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | CACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATG 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CACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGAAGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATG 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Task1_train_26488 | A variant was discovered on Chromosome 19, affecting LDLR (low density lipoprotein receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | TCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAG 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TCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCAAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAG 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Task1_train_26489 | A variant was discovered in gene LDLR (low density lipoprotein receptor), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hypercholesterolemia, familial, 1 | ACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATA 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ACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCCGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATA 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Task1_train_26490 | A sequence alteration has been identified in LDLR (low density lipoprotein receptor) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Hypercholesterolemia, familial, 1 | ATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATA 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ATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACCGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATA 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Task1_train_26491 | A genomic change on Chromosome 19 affects LDLR (low density lipoprotein receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hypercholesterolemia, familial, 1 | TGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAA 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TGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTTCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAA 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Task1_train_26492 | A variant on Chromosome 19 in gene LDLR (low density lipoprotein receptor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hypercholesterolemia, familial, 1 | CGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGT 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CGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGAACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGT 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Task1_train_26493 | A mutation in LDLR (low density lipoprotein receptor), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Familial hypercholesterolemia | GCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATA 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GCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACACATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCTGTGCAAAGGGCTCCTTTTTTCATTTTGAGACAGTCTCGCACGGTCGCCCAGGCTGGAGCGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAAGCCCGGGTAATTTTTTGTATGTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCCACCCCATGAAAAAAAATTAAAAAATGAAGCGATGCTGGGCGCGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACGAGGGCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGGGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGAATTCTGAAATACATGAATTCTTTTCCTTAGATGCCTGCTTCTGTCTTGAGGTTTGTTGTTGTTATTTCGAAACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCACAACCTCCGGCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCTGAATGCCACCTTGCTGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAACTCCTGACCTCGAGTGATCTGCCCGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCTCGTCCTGGTGAGGGTTTTTTTTTTTCCCCAACCCTCTGTGGTGGATACTGAAAGACCATATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATA 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Task1_train_26494 | This mutation is located in gene LDLR (low density lipoprotein receptor) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypercholesterolemia, familial, 1 | TATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTC 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TATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTGCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTC 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Task1_train_26495 | A genomic change on Chromosome 19 affects LDLR (low density lipoprotein receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hypercholesterolemia, familial, 1 | AAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGC 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AAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCTGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGC 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Task1_train_26496 | A mutation on Chromosome 19 affecting LDLR (low density lipoprotein receptor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Familial hypercholesterolemia | CAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGA 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CAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTCCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGA 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Task1_train_26497 | Given a variant located on Chromosome 19 and affecting LDLR (low density lipoprotein receptor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | AAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGAT 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AAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGGCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGAT 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Task1_train_26498 | Consider a variant on Chromosome 19 in gene LDLR (low density lipoprotein receptor). Determine its clinical classification and disease relevance. | Pathogenic; Hypercholesterolemia, familial, 1 | ATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAA 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ATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGTCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAA 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Task1_train_26499 | The gene LDLR (low density lipoprotein receptor), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hypercholesterolemia, familial, 1 | CATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCA 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CATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTCATGAAAATGATTTCCCTTTTTATTTTTATTTTTCTTCTCAAGTATTTAAATATGTAAAAGCCATTTTTAGGCCTGGCAGGATGGTTCACAGCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTTGGTGGCGCGCGTCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATGCAGGAGGCGGAGGTTGTAGTGAGCCGAGGTTGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGAGTCCGCCTCAAACAAAAAAATGTTTGCCCATGCTGGTCTTGAACTCCTGGGCTCAAGCTATCTGCCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAGGCATGAGCTACAGCGCCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCATGAGCCACTGCGCCCGGCCCCAGAACTCTTTTATCTTCCCAAACTGAAGCTCTGTCCCCATGAAACACTCACTCTCCATCCCCTCCCCAACTCCTGGCACCCACCATTCTACTTTCTGTCCCTATGAATGTGATGGCTCTAGGGACCTCCTCTGAGTGGAATCAGACAGCATTTTCCTTTTTTGACTGGCTTATTTCACTGAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAAAACTTTGGGAGACCGAGGCGGGCGCATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCCTGTCATGGTCGTGGGTGCCTGTAATCCCAGCTAAGTGGGAGGCTGAGGCAGGAGAATCGCTTGTACCCAGGAGGCGGAGGTCGCAGTGAGCCGAGATCGTGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTAATGAGCCAAGGTTGGCGGCGAAGGGATGGGTAGGGGCCCGAGAGTGACCAGTCTGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCAAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCTGAGGCGGGAGGATTGCTTGAGGGCAGGAGGATTGGTTGATCCTCCCACCTCAGCCTCCGGAGTAGCTGGGACCTCAGGTGCATGCCACTATGCCTGGCTAATTTTCTTTTTTCTTTTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGAGCCCGCCACTGCACCAGGCCAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCTAATTTTCATATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGAACCCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACACCACACCTGGCTATTATTATTTTTTAGAGACAGGGTGCTGCTCTATCTTCCAGCCTGTAGTGCAGTGCAGCCTCCATCATAGCTCGCTGCAGCCTTGACCTCCTGGGTTCACGTGATCGTCCCGCCTAAGCCTCTGGAGGAGCTGGGAGTACTGGCATGTGCCACCATGCCTGGTTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTTACTGAAACCTCCACCTCCCAGGTTCCA 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