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_22000 | Located on Chromosome 16, this mutation impacts HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Methemoglobinemia, alpha type | AAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAATATGGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGCACGCCTGTAATCCCAGCTA | AAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGTACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAATATGGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGCACGCCTGTAATCCCAGCTA |
Task1_train_22001 | Consider a variant on Chromosome 16 in gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region). Determine its clinical classification and disease relevance. | Pathogenic; alpha Thalassemia | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAATATGGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGACCCGAGATCACACCATTGCACTCTAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAATTATAAAAATTATACATCAGTAGATGAATGGGTAAACAAAATGTGGTGGTCTATACACACAATGGAATATTATTTGGCCACAAAAAGAAATGAAGCACTGATAGGATGTAGCTGCACCCTGAAAAT | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCTCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAATATGGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGACCCGAGATCACACCATTGCACTCTAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAATTATAAAAATTATACATCAGTAGATGAATGGGTAAACAAAATGTGGTGGTCTATACACACAATGGAATATTATTTGGCCACAAAAAGAAATGAAGCACTGATAGGATGTAGCTGCACCCTGAAAAT |
Task1_train_22002 | This sequence change occurs on Chromosome 16, altering HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hemoglobin H disease | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAATATGGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGACCCGAGATCACACCATTGCACTCTAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAATTATAAAAATTATACATCAGTAGATGAATGGGTAAACAAAATGTGGTGGTCTATACACACAATGGAATATTATTTGGCCACAAAAAGAAATGAAGCACTGATAGGATGTAGCTGCACCCTGAAAAT | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCTCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAATATGGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGACCCGAGATCACACCATTGCACTCTAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAATTATAAAAATTATACATCAGTAGATGAATGGGTAAACAAAATGTGGTGGTCTATACACACAATGGAATATTATTTGGCCACAAAAAGAAATGAAGCACTGATAGGATGTAGCTGCACCCTGAAAAT |
Task1_train_22003 | Consider this mutation in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; alpha Thalassemia | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAATATGGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGACCCGAGATCACACCATTGCACTCTAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAATTATAAAAATTATACATCAGTAGATGAATGGGTAAACAAAATGTGGTGGTCTATACACACAATGGAATATTATTTGGCCACAAAAAGAAATGAAGCACTGATAGGATGTAGCTGCACCCTGAAAAT | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCTCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAATATGGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGACCCGAGATCACACCATTGCACTCTAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAATTATAAAAATTATACATCAGTAGATGAATGGGTAAACAAAATGTGGTGGTCTATACACACAATGGAATATTATTTGGCCACAAAAAGAAATGAAGCACTGATAGGATGTAGCTGCACCCTGAAAAT |
Task1_train_22004 | The gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Heinz body anemia | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAATATGGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGACCCGAGATCACACCATTGCACTCTAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAATTATAAAAATTATACATCAGTAGATGAATGGGTAAACAAAATGTGGTGGTCTATACACACAATGGAATATTATTTGGCCACAAAAAGAAATGAAGCACTGATAGGATGTAGCTGCACCCTGAAAAT | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCTCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAATATGGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGACCCGAGATCACACCATTGCACTCTAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAATTATAAAAATTATACATCAGTAGATGAATGGGTAAACAAAATGTGGTGGTCTATACACACAATGGAATATTATTTGGCCACAAAAAGAAATGAAGCACTGATAGGATGTAGCTGCACCCTGAAAAT |
Task1_train_22005 | The gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Methemoglobinemia, alpha type | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAATATGGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGACCCGAGATCACACCATTGCACTCTAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAATTATAAAAATTATACATCAGTAGATGAATGGGTAAACAAAATGTGGTGGTCTATACACACAATGGAATATTATTTGGCCACAAAAAGAAATGAAGCACTGATAGGATGTAGCTGCACCCTGAAAAT | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCTCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAATATGGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGACCCGAGATCACACCATTGCACTCTAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAATTATAAAAATTATACATCAGTAGATGAATGGGTAAACAAAATGTGGTGGTCTATACACACAATGGAATATTATTTGGCCACAAAAAGAAATGAAGCACTGATAGGATGTAGCTGCACCCTGAAAAT |
Task1_train_22006 | This sequence variant lies in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Erythrocytosis, familial, 7 | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAATATGGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGACCCGAGATCACACCATTGCACTCTAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAATTATAAAAATTATACATCAGTAGATGAATGGGTAAACAAAATGTGGTGGTCTATACACACAATGGAATATTATTTGGCCACAAAAAGAAATGAAGCACTGATAGGATGTAGCTGCACCCTGAAAAT | CCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCTCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAAAGTCTGAGTGGGCGGCAGCCTGTGTGTGCCTGAGTTTTTTCCCTCAGCAAACGTGCCAGGCATGGGCGTGGACAGCAGCTGGGACACACATGGCTAGAACCTCTCTGCAGCTGGATAGGGTAGGAAAAGGCAGGGGCGGGAGGAGGGGATGGAGGAGGGAAAGTGGAGCCACCGCGAAGTCCAGCTGGAAAAACGCTGGACCCTAGAGTGCTTTGAGGATGCATTTGCTCTTTCCCGAGTTTTATTCCCAGACTTTTCAGATTCAATGCAGGTTTGCTGAAATAATGAATTTATCCATCTTTACGTTTCTGGGCACTCTTGTGCCAAGAACTGGCTGGCTTTCTGCCTGGGACGTCACTGGTTTCCCAGAGGTCCTCCCACATATGGGTGGTGGGTAGGTCAGAGAAGTCCCACTCCAGCATGGCTGCATTGATCCCCCATCGTTCCCACTAGTCTCCGTAAAACCTCCCAGATACAGGCACAGTCTAGATGAAATCAGGGGTGCGGGGTGCAACTGCAGGCCCCAGGCAATTCAATAGGGGCTCTACTTTCACCCCCAGGTCACCCCAGAATGCTCACACACCAGACACTGACGCCCTGGGGCTGTCAAGATCAGGCGTTTGTCTCTGGGCCCAGCTCAGGGCCCAGCTCAGCACCCACTCAGCTCCCCTGAGGCTGGGGAGCCTGTCCCATTGCGACTGGAGAGGAGAGCGGGGCCACAGAGGCCTGGCTAGAAGGTCCCTTCTCCCTGGTGTGTGTTTTCTCTCTGCTGAGCAGGCTTGCAGTGCCTGGGGTATCAGAGGGAGGGTTCCCGGAGCTGGTAGCCATAAAGCCCTGGCCCTCAACTGATAGGAATATCTTTTATTCCCTGAGCCCATGAATCACCCTTGGTAAACACCTATGGCAGGCCCTCTGCCTGCGTTTGTGATGTCCTTCCCGCAGCCTGTGGGTACAGTATCAACTGTCAGGAAGACGGTGTCTTCGTTATTTCATCAGGAAGAATGGAGGTCTGACCTAAAGGTAGAAATATGTCAAATGTACAGCAGAGGGCTGGTTGGAGTGCAGCGCTTTTTACAATTAATTGATCAGAACCAGTTATAAATTTATCATTTCCTTCTCCACTCCTGCTGCTTCAGTTGACTAAGCCTAAGAAAAAATTATAAAAATTGGCCGGGCGCGGTGGCTCACACCTGTAATTGCAGCACTTTGCCAGGCTTAGGCAGGTGGATCACCTGAAGTCAGGGGTTCGAGACCAGCCTAGCCAACATAGTGAAACCCTGTCTCTACTAAAAAGACAAAAATTGTCCAGGTGTGATGACTCATGCCTGTAAACCTGGCACTTTGGGAGGCGGAGGTTGTAGTGAGTCAAGATCGCGCCATCGCACTCCAGCTTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAATTTAATCTAATTTAATTTAATTTAAAAATTAGCACGGTGGTTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACAAGGTCAGGAATTCGAGACCAGCCTGGCCAATATGGGGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGACCCGAGATCACACCATTGCACTCTAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAATTATAAAAATTATACATCAGTAGATGAATGGGTAAACAAAATGTGGTGGTCTATACACACAATGGAATATTATTTGGCCACAAAAAGAAATGAAGCACTGATAGGATGTAGCTGCACCCTGAAAAT 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Task1_train_22007 | The following genetic variant occurs in CAPN15 (calpain 15) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Oculogastrointestinal-neurodevelopmental syndrome | GTCACGCGCAGCCTGTGTGCAGAGGGCGCCTACCAGGTGCGGCTGTGCAAGGACGGCACGTGGACCACGGTGCTGGTGGACGACATGCTGCCCTGTGATGAGGCCGGCTGCCTCCTCTTCTCACAGGTGGGGCGGCCTGCAGGGTGGGCACGGGCGGCAGGGGCAGCCTCTGACCCCAGCCCCGAAAACAAGGCCGGCTGCTTCCTCTTCTCCCAGGGCGGGTAGTGTGGGGGGCGGGCGGGGGTGGCCTCTGACCCGGCCCTCTGCAGGCGCAGCGGAAGCAGCTGTGGGTGGCCCTCATCGAGAAGGCGCTGGCCAAGCTGCACGGCTCCTACTTTGCGCTCCAGGCGGGCCGCGCCATCGAAGGCCTGGCCACGCTCACCGGCGCCCCCTGTGAGAGCCTGGCGCTGCAGCTCAGCTCCACTAACCCCCGCGAGGAGCCCGTTGACACTGACCTCATCTGGGCCAAAATGCTGAGTTCTAAGGAGGCTGGGTAAGAGGAGGGGCACTGCGTGGTCAGCCGCGTTGGGAGGAGAGGCGAGGCGGAGCGGTGGGAGATGTGGGGCTGGTGGCCCCTGACCCAGTTCTGCTTCCACGAGGTGCCCCTGGCGTGGGCTGACCCCGCGTGGCCAGGCCACAGCCCCAATCACCTCCCCCTCCCTGGGCGGGGCTGGAGCTGGCCTTCTCATGCCAGGAAGGCCACATCCTGGCCAGGCCGTGGGGCGAGACCGATGCCGTCACCCCGGAGCAGGTGTGAGCGGCGTGTCGAGTTTGACCTGGGCCGTGGGGCGAGACTGATGCCGTCATCCGCCTCGGGGCAGGCGTGAGCGGCGTGTCGAGTTTGGCCACACTCTGGTCAGCGGGTCTGTGCCTCGACCCCCAGGGGCCTCCTCGGAGTGCCCCGGTGCGAGCACCTTGAAGCTCCCGGAGCCCTCCTCTCAGCTGACCCTGGGCAGTGCTGCTGCCCACCCCCCACCCGCCCGGGAGCCACAGAGCCCAGAGCCAGCCCCACAAGGCCTCCAGGGGACCCAGGCCTGCCACCCCTGACTCAGGCCCTGTGCGCTTCAGGCATGGTGGAGGGGGCTGGTCCAGACCCTCCTGAACACTTCACGTGGTCCCTACAGGCAGGAGTGGGCCCTTCTCTGCTGCGCCTGCCTGTCTTGGTGGCAAGGTCGCGGCCAGCGAGGGCACTGGTCAGCAAGGCCCCGGTCAGTGAGGGCCCCGCTCAGCCATGCCCCCAGTCGGTGAGGGCCCCACTCAGCCATGCCCCTGGTTAGTGAGACCCCCTGTCAGTGAGGGTTCCCTGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCCAGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGCCGGTGAGGGTCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGTGATGGCCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGTCCCTGGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCTTTCGGTGAGGGTCCCCTGTCTGTGAGGGCCCCGGTCGGTGAGGGTCCCCTGTTGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGTCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGTTGGTGAGGGCCCCGGTCGGTGAGGGCGCCCCGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCAGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCGCTCTGCCACACAGGTTCCTCATGGGTGCCTCCTGTGGCGGGGGCAACATGAAGGTGGACGATTCGGCCTACGAGAGCCTGGGCCTGCGCCCCCGGCATGCCTACTCCATCCTGGATGTCCGAGATGTCCAGGGCACCAGGTAGGGCCGGCCTGGCTGAGGGTGGGTGGGGTGCCGGTGAGACTCGGGCAGTGTGGTTCAGATCCTCACCCCTGTGGTCTGCAGGCTTCTGCGGCTCCGAAACCCGTGGGGCCGTTTCTCCTGGAACGGCAGCTGGTCCGACGAGTGGCCACACTGGCCGGGGCACCTGCGTGGCGAGCTCATGCCGCACGGCAGCAGTGAGGGTGTCTTCTGGATGGAGTACGGCGACTTTGTCAGGTATCGGCACCGTGGGGCGGTGTGCACGCCGCCCCCGCCCTCCTAGGGCCGAGTCCTTCTCTGGAGAACAAGCCTGTCCCTCCTGCTGACCTGGGGTGGGGCGGCTTGTTCGTGGCCCAAATGGGACCTGGAGCTTCAGCTCCAAGGTGCCAACCTCAGAATTCAGGTCCACCCAGGTCAGCAGATTCCAGCGCCCTGAAGAGCCGGCCCTGGAGGGCTTCCTATTATAGGCCTCAGGGATGGGCCCCCGGGGGCCGGGCTGCAAGAGGACGGTGACGGAGCAGCTGGCACCTGCTGGGGTCACCGGCCTGTGGTTGCGGTAGGCGCTGAGCCACGGAGGTGTGGGCCGTGGTAGGCTCAGGGCCCCGTCCTCCCGCCACCTGCAGGTACTTCGACTCCGTGGACATCTGTAAGGTGCACTCGGACTGGCAGGAGGCGCGGGTGCAGGGCTGCTTTCCCAGCTCGGCCAGCGCGCCCGTGGGGGTAACAGCGCTCACGGTGCTGGAGCGGGCCTCGCTGGAGTTCGCGCTCTTCCAGGAGGGCAGCAGGTGGGTGCTGCGGGGCCCCATCGGGCTGGGCTGGGCTAGGCTGGCGGCCGTGACCACGCGTGACCCTGGCCCGTGGTGTCTGGCGCAGGCGCTCGGACGCCGTGGACAGCCACCTGCTGGACCTGTGCATCCTGGTGTTCCGGGCCACGTTCGGCAGCGGCGGCCACCTCAGCCTGGGCCGCCTCCTGGCCCACAGTAAGCGCGCGGTCAAGAAGTTCGTCAGCTGCGACGTCATGCTGGAGCCTGGCGAGTACGCTGTGGTGTGCTGCGCCTTCAACCACTGGGGGCCGCCCCTGCCGGGCACCCCTGCCCCCCAGGGTACGTGGCCCCTACCCCAGGCTCATGCCCCAGGCCCACGGGGAGGGCTGCGGTTCACACGCCCGTCCTTGTAGCCTCCAGCCCCTCGGCAGGGGTCCCGAGAGCCTCCCCAGAGCCGCCGGGCCACGTGCTGGCTGTGTACAGCTCGAGGCTGGTCATGGTGGAGCCCGTGGAAGCCCAGCCGACCACGCTGGCCGACGCCATCATCCTGCTCACCGAGAGCCGCGGAGAGCGGCACGAGGTGGGTGGGGGTCCCGGGGGAGGGTGGCGTGGGGCAGGGGGAGTATGCCCCAGCACCTCCCCTGCCCCACAACTGCCATTCCTGTGCCCAGGGCCGTGAGGGCATGACCTGCTACTACCTGACACACGGTTGGGCGGGGCTCATCGTGGTGGTGGAGAACCGACACCCCAAGGCCTACCTGCACGTGCAGTGTGACTGCACCGACAGCTTCAACGTGGTGTCCACACGCGGCAGCCTGCGTACCCAGGATAGCGTGCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCCCCACCCCTGCACAGGTGCCCCCTCCCCTACCCCGCTGCACCCACACCCAACTCGTGCCCCCCCACCCCTGCACAGGTGCCCCCTCCCCTACCCCGCTGCACCCACACCCAACCCATGCCCCCCCCACCCCTGCAGAGGTGTGCTCATACCCCTGCCCCCACCCCTGTACGGGTGTTTGTCACCCCACTCCTGCTCCTGCCCCTGTACAGGTGGGCACAGCCCTGCCCCCATCCCCACCCTGCCCTCCACAGGTCCTCACCGGTCCCCTCCCCCAGGCAGGTCCTGGTGATCTTGTCCCAGCTAGAGGGCAACGCCGGCTTCTCTATCACCCACCGCCTGGCACATCGCAAGGCAGCCCAGGCCTTCCTCAGTGACTGG | GTCACGCGCAGCCTGTGTGCAGAGGGCGCCTACCAGGTGCGGCTGTGCAAGGACGGCACGTGGACCACGGTGCTGGTGGACGACATGCTGCCCTGTGATGAGGCCGGCTGCCTCCTCTTCTCACAGGTGGGGCGGCCTGCAGGGTGGGCACGGGCGGCAGGGGCAGCCTCTGACCCCAGCCCCGAAAACAAGGCCGGCTGCTTCCTCTTCTCCCAGGGCGGGTAGTGTGGGGGGCGGGCGGGGGTGGCCTCTGACCCGGCCCTCTGCAGGCGCAGCGGAAGCAGCTGTGGGTGGCCCTCATCGAGAAGGCGCTGGCCAAGCTGCACGGCTCCTACTTTGCGCTCCAGGCGGGCCGCGCCATCGAAGGCCTGGCCACGCTCACCGGCGCCCCCTGTGAGAGCCTGGCGCTGCAGCTCAGCTCCACTAACCCCCGCGAGGAGCCCGTTGACACTGACCTCATCTGGGCCAAAATGCTGAGTTCTAAGGAGGCTGGGTAAGAGGAGGGGCACTGCGTGGTCAGCCGCGTTGGGAGGAGAGGCGAGGCGGAGCGGTGGGAGATGTGGGGCTGGTGGCCCCTGACCCAGTTCTGCTTCCACGAGGTGCCCCTGGCGTGGGCTGACCCCGCGTGGCCAGGCCACAGCCCCAATCACCTCCCCCTCCCTGGGCGGGGCTGGAGCTGGCCTTCTCATGCCAGGAAGGCCACATCCTGGCCAGGCCGTGGGGCGAGACCGATGCCGTCACCCCGGAGCAGGTGTGAGCGGCGTGTCGAGTTTGACCTGGGCCGTGGGGCGAGACTGATGCCGTCATCCGCCTCGGGGCAGGCGTGAGCGGCGTGTCGAGTTTGGCCACACTCTGGTCAGCGGGTCTGTGCCTCGACCCCCAGGGGCCTCCTCGGAGTGCCCCGGTGCGAGCACCTTGAAGCTCCCGGAGCCCTCCTCTCAGCTGACCCTGGGCAGTGCTGCTGCCCACCCCCCACCCGCCCGGGAGCCACAGAGCCCAGAGCCAGCCCCACAAGGCCTCCAGGGGACCCAGGCCTGCCACCCCTGACTCAGGCCCTGTGCGCTTCAGGCATGGTGGAGGGGGCTGGTCCAGACCCTCCTGAACACTTCACGTGGTCCCTACAGGCAGGAGTGGGCCCTTCTCTGCTGCGCCTGCCTGTCTTGGTGGCAAGGTCGCGGCCAGCGAGGGCACTGGTCAGCAAGGCCCCGGTCAGTGAGGGCCCCGCTCAGCCATGCCCCCAGTCGGTGAGGGCCCCACTCAGCCATGCCCCTGGTTAGTGAGACCCCCTGTCAGTGAGGGTTCCCTGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCCAGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGCCGGTGAGGGTCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGTGATGGCCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGTCCCTGGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCTTTCGGTGAGGGTCCCCTGTCTGTGAGGGCCCCGGTCGGTGAGGGTCCCCTGTTGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGTCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGTTGGTGAGGGCCCCGGTCGGTGAGGGCGCCCCGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCAGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCGCTCTGCCACACAGGTTCCTCATGGGTGCCTCCTGTGGCGGGGGCAACATGAAGGTGGACGATTCGGCCTACGAGAGCCTGGGCCTGCGCCCCCGGCATGCCTACTTCATCCTGGATGTCCGAGATGTCCAGGGCACCAGGTAGGGCCGGCCTGGCTGAGGGTGGGTGGGGTGCCGGTGAGACTCGGGCAGTGTGGTTCAGATCCTCACCCCTGTGGTCTGCAGGCTTCTGCGGCTCCGAAACCCGTGGGGCCGTTTCTCCTGGAACGGCAGCTGGTCCGACGAGTGGCCACACTGGCCGGGGCACCTGCGTGGCGAGCTCATGCCGCACGGCAGCAGTGAGGGTGTCTTCTGGATGGAGTACGGCGACTTTGTCAGGTATCGGCACCGTGGGGCGGTGTGCACGCCGCCCCCGCCCTCCTAGGGCCGAGTCCTTCTCTGGAGAACAAGCCTGTCCCTCCTGCTGACCTGGGGTGGGGCGGCTTGTTCGTGGCCCAAATGGGACCTGGAGCTTCAGCTCCAAGGTGCCAACCTCAGAATTCAGGTCCACCCAGGTCAGCAGATTCCAGCGCCCTGAAGAGCCGGCCCTGGAGGGCTTCCTATTATAGGCCTCAGGGATGGGCCCCCGGGGGCCGGGCTGCAAGAGGACGGTGACGGAGCAGCTGGCACCTGCTGGGGTCACCGGCCTGTGGTTGCGGTAGGCGCTGAGCCACGGAGGTGTGGGCCGTGGTAGGCTCAGGGCCCCGTCCTCCCGCCACCTGCAGGTACTTCGACTCCGTGGACATCTGTAAGGTGCACTCGGACTGGCAGGAGGCGCGGGTGCAGGGCTGCTTTCCCAGCTCGGCCAGCGCGCCCGTGGGGGTAACAGCGCTCACGGTGCTGGAGCGGGCCTCGCTGGAGTTCGCGCTCTTCCAGGAGGGCAGCAGGTGGGTGCTGCGGGGCCCCATCGGGCTGGGCTGGGCTAGGCTGGCGGCCGTGACCACGCGTGACCCTGGCCCGTGGTGTCTGGCGCAGGCGCTCGGACGCCGTGGACAGCCACCTGCTGGACCTGTGCATCCTGGTGTTCCGGGCCACGTTCGGCAGCGGCGGCCACCTCAGCCTGGGCCGCCTCCTGGCCCACAGTAAGCGCGCGGTCAAGAAGTTCGTCAGCTGCGACGTCATGCTGGAGCCTGGCGAGTACGCTGTGGTGTGCTGCGCCTTCAACCACTGGGGGCCGCCCCTGCCGGGCACCCCTGCCCCCCAGGGTACGTGGCCCCTACCCCAGGCTCATGCCCCAGGCCCACGGGGAGGGCTGCGGTTCACACGCCCGTCCTTGTAGCCTCCAGCCCCTCGGCAGGGGTCCCGAGAGCCTCCCCAGAGCCGCCGGGCCACGTGCTGGCTGTGTACAGCTCGAGGCTGGTCATGGTGGAGCCCGTGGAAGCCCAGCCGACCACGCTGGCCGACGCCATCATCCTGCTCACCGAGAGCCGCGGAGAGCGGCACGAGGTGGGTGGGGGTCCCGGGGGAGGGTGGCGTGGGGCAGGGGGAGTATGCCCCAGCACCTCCCCTGCCCCACAACTGCCATTCCTGTGCCCAGGGCCGTGAGGGCATGACCTGCTACTACCTGACACACGGTTGGGCGGGGCTCATCGTGGTGGTGGAGAACCGACACCCCAAGGCCTACCTGCACGTGCAGTGTGACTGCACCGACAGCTTCAACGTGGTGTCCACACGCGGCAGCCTGCGTACCCAGGATAGCGTGCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCCCCACCCCTGCACAGGTGCCCCCTCCCCTACCCCGCTGCACCCACACCCAACTCGTGCCCCCCCACCCCTGCACAGGTGCCCCCTCCCCTACCCCGCTGCACCCACACCCAACCCATGCCCCCCCCACCCCTGCAGAGGTGTGCTCATACCCCTGCCCCCACCCCTGTACGGGTGTTTGTCACCCCACTCCTGCTCCTGCCCCTGTACAGGTGGGCACAGCCCTGCCCCCATCCCCACCCTGCCCTCCACAGGTCCTCACCGGTCCCCTCCCCCAGGCAGGTCCTGGTGATCTTGTCCCAGCTAGAGGGCAACGCCGGCTTCTCTATCACCCACCGCCTGGCACATCGCAAGGCAGCCCAGGCCTTCCTCAGTGACTGG 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Task1_train_22008 | Gene CAPN15 (calpain 15) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Oculogastrointestinal-neurodevelopmental syndrome | GCCAGGCCGTGGGGCGAGACCGATGCCGTCACCCCGGAGCAGGTGTGAGCGGCGTGTCGAGTTTGACCTGGGCCGTGGGGCGAGACTGATGCCGTCATCCGCCTCGGGGCAGGCGTGAGCGGCGTGTCGAGTTTGGCCACACTCTGGTCAGCGGGTCTGTGCCTCGACCCCCAGGGGCCTCCTCGGAGTGCCCCGGTGCGAGCACCTTGAAGCTCCCGGAGCCCTCCTCTCAGCTGACCCTGGGCAGTGCTGCTGCCCACCCCCCACCCGCCCGGGAGCCACAGAGCCCAGAGCCAGCCCCACAAGGCCTCCAGGGGACCCAGGCCTGCCACCCCTGACTCAGGCCCTGTGCGCTTCAGGCATGGTGGAGGGGGCTGGTCCAGACCCTCCTGAACACTTCACGTGGTCCCTACAGGCAGGAGTGGGCCCTTCTCTGCTGCGCCTGCCTGTCTTGGTGGCAAGGTCGCGGCCAGCGAGGGCACTGGTCAGCAAGGCCCCGGTCAGTGAGGGCCCCGCTCAGCCATGCCCCCAGTCGGTGAGGGCCCCACTCAGCCATGCCCCTGGTTAGTGAGACCCCCTGTCAGTGAGGGTTCCCTGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCCAGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGCCGGTGAGGGTCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGTGATGGCCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGTCCCTGGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCTTTCGGTGAGGGTCCCCTGTCTGTGAGGGCCCCGGTCGGTGAGGGTCCCCTGTTGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGTCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGTTGGTGAGGGCCCCGGTCGGTGAGGGCGCCCCGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCAGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCGCTCTGCCACACAGGTTCCTCATGGGTGCCTCCTGTGGCGGGGGCAACATGAAGGTGGACGATTCGGCCTACGAGAGCCTGGGCCTGCGCCCCCGGCATGCCTACTCCATCCTGGATGTCCGAGATGTCCAGGGCACCAGGTAGGGCCGGCCTGGCTGAGGGTGGGTGGGGTGCCGGTGAGACTCGGGCAGTGTGGTTCAGATCCTCACCCCTGTGGTCTGCAGGCTTCTGCGGCTCCGAAACCCGTGGGGCCGTTTCTCCTGGAACGGCAGCTGGTCCGACGAGTGGCCACACTGGCCGGGGCACCTGCGTGGCGAGCTCATGCCGCACGGCAGCAGTGAGGGTGTCTTCTGGATGGAGTACGGCGACTTTGTCAGGTATCGGCACCGTGGGGCGGTGTGCACGCCGCCCCCGCCCTCCTAGGGCCGAGTCCTTCTCTGGAGAACAAGCCTGTCCCTCCTGCTGACCTGGGGTGGGGCGGCTTGTTCGTGGCCCAAATGGGACCTGGAGCTTCAGCTCCAAGGTGCCAACCTCAGAATTCAGGTCCACCCAGGTCAGCAGATTCCAGCGCCCTGAAGAGCCGGCCCTGGAGGGCTTCCTATTATAGGCCTCAGGGATGGGCCCCCGGGGGCCGGGCTGCAAGAGGACGGTGACGGAGCAGCTGGCACCTGCTGGGGTCACCGGCCTGTGGTTGCGGTAGGCGCTGAGCCACGGAGGTGTGGGCCGTGGTAGGCTCAGGGCCCCGTCCTCCCGCCACCTGCAGGTACTTCGACTCCGTGGACATCTGTAAGGTGCACTCGGACTGGCAGGAGGCGCGGGTGCAGGGCTGCTTTCCCAGCTCGGCCAGCGCGCCCGTGGGGGTAACAGCGCTCACGGTGCTGGAGCGGGCCTCGCTGGAGTTCGCGCTCTTCCAGGAGGGCAGCAGGTGGGTGCTGCGGGGCCCCATCGGGCTGGGCTGGGCTAGGCTGGCGGCCGTGACCACGCGTGACCCTGGCCCGTGGTGTCTGGCGCAGGCGCTCGGACGCCGTGGACAGCCACCTGCTGGACCTGTGCATCCTGGTGTTCCGGGCCACGTTCGGCAGCGGCGGCCACCTCAGCCTGGGCCGCCTCCTGGCCCACAGTAAGCGCGCGGTCAAGAAGTTCGTCAGCTGCGACGTCATGCTGGAGCCTGGCGAGTACGCTGTGGTGTGCTGCGCCTTCAACCACTGGGGGCCGCCCCTGCCGGGCACCCCTGCCCCCCAGGGTACGTGGCCCCTACCCCAGGCTCATGCCCCAGGCCCACGGGGAGGGCTGCGGTTCACACGCCCGTCCTTGTAGCCTCCAGCCCCTCGGCAGGGGTCCCGAGAGCCTCCCCAGAGCCGCCGGGCCACGTGCTGGCTGTGTACAGCTCGAGGCTGGTCATGGTGGAGCCCGTGGAAGCCCAGCCGACCACGCTGGCCGACGCCATCATCCTGCTCACCGAGAGCCGCGGAGAGCGGCACGAGGTGGGTGGGGGTCCCGGGGGAGGGTGGCGTGGGGCAGGGGGAGTATGCCCCAGCACCTCCCCTGCCCCACAACTGCCATTCCTGTGCCCAGGGCCGTGAGGGCATGACCTGCTACTACCTGACACACGGTTGGGCGGGGCTCATCGTGGTGGTGGAGAACCGACACCCCAAGGCCTACCTGCACGTGCAGTGTGACTGCACCGACAGCTTCAACGTGGTGTCCACACGCGGCAGCCTGCGTACCCAGGATAGCGTGCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCCCCACCCCTGCACAGGTGCCCCCTCCCCTACCCCGCTGCACCCACACCCAACTCGTGCCCCCCCACCCCTGCACAGGTGCCCCCTCCCCTACCCCGCTGCACCCACACCCAACCCATGCCCCCCCCACCCCTGCAGAGGTGTGCTCATACCCCTGCCCCCACCCCTGTACGGGTGTTTGTCACCCCACTCCTGCTCCTGCCCCTGTACAGGTGGGCACAGCCCTGCCCCCATCCCCACCCTGCCCTCCACAGGTCCTCACCGGTCCCCTCCCCCAGGCAGGTCCTGGTGATCTTGTCCCAGCTAGAGGGCAACGCCGGCTTCTCTATCACCCACCGCCTGGCACATCGCAAGGCAGCCCAGGCCTTCCTCAGTGACTGGACAGCCTCCAAGGGGACCCACAGCCCCCCACTCACGCCAGAGGTCGCCGGTCTGCATGGGCCCCGACCGCTGTGACCACCATGCCTGGGGCAGGGGCTGTGCACAGACGGACCCCCCACCCCCACACGCACTTTATGAGGGAGACCCCGACAGAGGACGCTTGAGCCAGAATCTCAGGACCCCGCCCAGGGAGCTGCCAGCCCAGGGCTCAGCTTCCCATGGGCCCCCCGCCCCCCTCCTTCCCCTCCCTGAACCCCACAGTCCGCCTGGCCAGGCCTCCTGGCCGCCACGCAGAATACCTCGAACCAGGCGGGCTGTGAACCAGCCCCGCTCACCTGCCAGCCCCAACACCCGACGGGGGCCGAGGCCAGGCTGCCCCTCCCTGTGGGCTCAGGGTCTCCTGCGGGCTAGGCAGCCAGGAGCTCTGTCCGCAAAACCAAATCTGGGTGTCAGAGGCCAAGACCCTGGGGTGGGATCAGGGACCACCCCTCACGGGGCATAAGGTCAGTTTTCCCCCAGAGCCCGGGTCCCTGTCCCCCACAGGGCAGGCGGGGTCCCTGGAGCCCTGGTGTGGAGCGGCGAGTCCCGGGGCGGTGCCTGTCTCAGAAGAAGGGGCCCTTGGCCAGCCCCCCAGCGACACTATGCAAATCCTGGAGTGCCCGCCAGGATCGAAGCCATGACTGGGTGCAGGCGGGCGCCAGGCCCGCTG 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GCCAGGCCGTGGGGCGAGACCGATGCCGTCACCCCGGAGCAGGTGTGAGCGGCGTGTCGAGTTTGACCTGGGCCGTGGGGCGAGACTGATGCCGTCATCCGCCTCGGGGCAGGCGTGAGCGGCGTGTCGAGTTTGGCCACACTCTGGTCAGCGGGTCTGTGCCTCGACCCCCAGGGGCCTCCTCGGAGTGCCCCGGTGCGAGCACCTTGAAGCTCCCGGAGCCCTCCTCTCAGCTGACCCTGGGCAGTGCTGCTGCCCACCCCCCACCCGCCCGGGAGCCACAGAGCCCAGAGCCAGCCCCACAAGGCCTCCAGGGGACCCAGGCCTGCCACCCCTGACTCAGGCCCTGTGCGCTTCAGGCATGGTGGAGGGGGCTGGTCCAGACCCTCCTGAACACTTCACGTGGTCCCTACAGGCAGGAGTGGGCCCTTCTCTGCTGCGCCTGCCTGTCTTGGTGGCAAGGTCGCGGCCAGCGAGGGCACTGGTCAGCAAGGCCCCGGTCAGTGAGGGCCCCGCTCAGCCATGCCCCCAGTCGGTGAGGGCCCCACTCAGCCATGCCCCTGGTTAGTGAGACCCCCTGTCAGTGAGGGTTCCCTGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCCAGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGCCGGTGAGGGTCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGTGATGGCCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGTCCCTGGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCTTTCGGTGAGGGTCCCCTGTCTGTGAGGGCCCCGGTCGGTGAGGGTCCCCTGTTGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGTCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGTTGGTGAGGGCCCCGGTCGGTGAGGGCGCCCCGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCAGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCGCTCTGCCACACAGGTTCCTCATGGGTGCCTCCTGTGGCGGGGGCAACATGAAGGTGGACGATTCGGCCTACGAGAGCCTGGGCCTGCGCCCCCGGCATGCCTACTCCATCCTGGATGTCCGAGATGTCCAGGGCACCAGGTAGGGCCGGCCTGGCTGAGGGTGGGTGGGGTGCCGGTGAGACTCGGGCAGTGTGGTTCAGATCCTCACCCCTGTGGTCTGCAGGCTTCTGCGGCTCCGAAACCCGTGGGGCCGTTTCTCCTGGAACGGCAGCTGGTCCGACGAGTGGCCACACTGGCCGGGGCACCTGCGTGGCGAGCTCATGCCGCACGGCAGCAGTGAGGGTGTCTTCTGGATGGAGTACGGCGACTTTGTCAGGTATCGGCACCGTGGGGCGGTGTGCACGCCGCCCCCGCCCTCCTAGGGCCGAGTCCTTCTCTGGAGAACAAGCCTGTCCCTCCTGCTGACCTGGGGTGGGGCGGCTTGTTCGTGGCCCAAATGGGACCTGGAGCTTCAGCTCCAAGGTGCCAACCTCAGAATTCAGGTCCACCCAGGTCAGCAGATTCCAGCGCCCTGAAGAGCCGGCCCTGGAGGGCTTCCTATTATAGGCCTCAGGGATGGGCCCCCGGGGGCCGGGCTGCAAGAGGACGGTGACGGAGCAGCTGGCACCTGCTGGGGTCACCGGCCTGTGGTTGCGGTAGGCGCTGAGCCACGGAGGTGTGGGCCGTGGTAGGCTCAGGGCCCCGTCCTCCCGCCACCTGCAGGTACTTCGACTCCGTGGACATCTGTAAGGTGCACTCGGACTGGCAGGAGGCGTGGGTGCAGGGCTGCTTTCCCAGCTCGGCCAGCGCGCCCGTGGGGGTAACAGCGCTCACGGTGCTGGAGCGGGCCTCGCTGGAGTTCGCGCTCTTCCAGGAGGGCAGCAGGTGGGTGCTGCGGGGCCCCATCGGGCTGGGCTGGGCTAGGCTGGCGGCCGTGACCACGCGTGACCCTGGCCCGTGGTGTCTGGCGCAGGCGCTCGGACGCCGTGGACAGCCACCTGCTGGACCTGTGCATCCTGGTGTTCCGGGCCACGTTCGGCAGCGGCGGCCACCTCAGCCTGGGCCGCCTCCTGGCCCACAGTAAGCGCGCGGTCAAGAAGTTCGTCAGCTGCGACGTCATGCTGGAGCCTGGCGAGTACGCTGTGGTGTGCTGCGCCTTCAACCACTGGGGGCCGCCCCTGCCGGGCACCCCTGCCCCCCAGGGTACGTGGCCCCTACCCCAGGCTCATGCCCCAGGCCCACGGGGAGGGCTGCGGTTCACACGCCCGTCCTTGTAGCCTCCAGCCCCTCGGCAGGGGTCCCGAGAGCCTCCCCAGAGCCGCCGGGCCACGTGCTGGCTGTGTACAGCTCGAGGCTGGTCATGGTGGAGCCCGTGGAAGCCCAGCCGACCACGCTGGCCGACGCCATCATCCTGCTCACCGAGAGCCGCGGAGAGCGGCACGAGGTGGGTGGGGGTCCCGGGGGAGGGTGGCGTGGGGCAGGGGGAGTATGCCCCAGCACCTCCCCTGCCCCACAACTGCCATTCCTGTGCCCAGGGCCGTGAGGGCATGACCTGCTACTACCTGACACACGGTTGGGCGGGGCTCATCGTGGTGGTGGAGAACCGACACCCCAAGGCCTACCTGCACGTGCAGTGTGACTGCACCGACAGCTTCAACGTGGTGTCCACACGCGGCAGCCTGCGTACCCAGGATAGCGTGCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCCCCACCCCTGCACAGGTGCCCCCTCCCCTACCCCGCTGCACCCACACCCAACTCGTGCCCCCCCACCCCTGCACAGGTGCCCCCTCCCCTACCCCGCTGCACCCACACCCAACCCATGCCCCCCCCACCCCTGCAGAGGTGTGCTCATACCCCTGCCCCCACCCCTGTACGGGTGTTTGTCACCCCACTCCTGCTCCTGCCCCTGTACAGGTGGGCACAGCCCTGCCCCCATCCCCACCCTGCCCTCCACAGGTCCTCACCGGTCCCCTCCCCCAGGCAGGTCCTGGTGATCTTGTCCCAGCTAGAGGGCAACGCCGGCTTCTCTATCACCCACCGCCTGGCACATCGCAAGGCAGCCCAGGCCTTCCTCAGTGACTGGACAGCCTCCAAGGGGACCCACAGCCCCCCACTCACGCCAGAGGTCGCCGGTCTGCATGGGCCCCGACCGCTGTGACCACCATGCCTGGGGCAGGGGCTGTGCACAGACGGACCCCCCACCCCCACACGCACTTTATGAGGGAGACCCCGACAGAGGACGCTTGAGCCAGAATCTCAGGACCCCGCCCAGGGAGCTGCCAGCCCAGGGCTCAGCTTCCCATGGGCCCCCCGCCCCCCTCCTTCCCCTCCCTGAACCCCACAGTCCGCCTGGCCAGGCCTCCTGGCCGCCACGCAGAATACCTCGAACCAGGCGGGCTGTGAACCAGCCCCGCTCACCTGCCAGCCCCAACACCCGACGGGGGCCGAGGCCAGGCTGCCCCTCCCTGTGGGCTCAGGGTCTCCTGCGGGCTAGGCAGCCAGGAGCTCTGTCCGCAAAACCAAATCTGGGTGTCAGAGGCCAAGACCCTGGGGTGGGATCAGGGACCACCCCTCACGGGGCATAAGGTCAGTTTTCCCCCAGAGCCCGGGTCCCTGTCCCCCACAGGGCAGGCGGGGTCCCTGGAGCCCTGGTGTGGAGCGGCGAGTCCCGGGGCGGTGCCTGTCTCAGAAGAAGGGGCCCTTGGCCAGCCCCCCAGCGACACTATGCAAATCCTGGAGTGCCCGCCAGGATCGAAGCCATGACTGGGTGCAGGCGGGCGCCAGGCCCGCTG 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Task1_train_22009 | A variant affecting Chromosome 16, within the gene CAPN15 (calpain 15), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Oculogastrointestinal-neurodevelopmental syndrome | GTCGGTGAGGGTGCCCCGTCGGTGATGGCCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGTCCCTGGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCTTTCGGTGAGGGTCCCCTGTCTGTGAGGGCCCCGGTCGGTGAGGGTCCCCTGTTGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGTCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGTTGGTGAGGGCCCCGGTCGGTGAGGGCGCCCCGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCAGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCGCTCTGCCACACAGGTTCCTCATGGGTGCCTCCTGTGGCGGGGGCAACATGAAGGTGGACGATTCGGCCTACGAGAGCCTGGGCCTGCGCCCCCGGCATGCCTACTCCATCCTGGATGTCCGAGATGTCCAGGGCACCAGGTAGGGCCGGCCTGGCTGAGGGTGGGTGGGGTGCCGGTGAGACTCGGGCAGTGTGGTTCAGATCCTCACCCCTGTGGTCTGCAGGCTTCTGCGGCTCCGAAACCCGTGGGGCCGTTTCTCCTGGAACGGCAGCTGGTCCGACGAGTGGCCACACTGGCCGGGGCACCTGCGTGGCGAGCTCATGCCGCACGGCAGCAGTGAGGGTGTCTTCTGGATGGAGTACGGCGACTTTGTCAGGTATCGGCACCGTGGGGCGGTGTGCACGCCGCCCCCGCCCTCCTAGGGCCGAGTCCTTCTCTGGAGAACAAGCCTGTCCCTCCTGCTGACCTGGGGTGGGGCGGCTTGTTCGTGGCCCAAATGGGACCTGGAGCTTCAGCTCCAAGGTGCCAACCTCAGAATTCAGGTCCACCCAGGTCAGCAGATTCCAGCGCCCTGAAGAGCCGGCCCTGGAGGGCTTCCTATTATAGGCCTCAGGGATGGGCCCCCGGGGGCCGGGCTGCAAGAGGACGGTGACGGAGCAGCTGGCACCTGCTGGGGTCACCGGCCTGTGGTTGCGGTAGGCGCTGAGCCACGGAGGTGTGGGCCGTGGTAGGCTCAGGGCCCCGTCCTCCCGCCACCTGCAGGTACTTCGACTCCGTGGACATCTGTAAGGTGCACTCGGACTGGCAGGAGGCGCGGGTGCAGGGCTGCTTTCCCAGCTCGGCCAGCGCGCCCGTGGGGGTAACAGCGCTCACGGTGCTGGAGCGGGCCTCGCTGGAGTTCGCGCTCTTCCAGGAGGGCAGCAGGTGGGTGCTGCGGGGCCCCATCGGGCTGGGCTGGGCTAGGCTGGCGGCCGTGACCACGCGTGACCCTGGCCCGTGGTGTCTGGCGCAGGCGCTCGGACGCCGTGGACAGCCACCTGCTGGACCTGTGCATCCTGGTGTTCCGGGCCACGTTCGGCAGCGGCGGCCACCTCAGCCTGGGCCGCCTCCTGGCCCACAGTAAGCGCGCGGTCAAGAAGTTCGTCAGCTGCGACGTCATGCTGGAGCCTGGCGAGTACGCTGTGGTGTGCTGCGCCTTCAACCACTGGGGGCCGCCCCTGCCGGGCACCCCTGCCCCCCAGGGTACGTGGCCCCTACCCCAGGCTCATGCCCCAGGCCCACGGGGAGGGCTGCGGTTCACACGCCCGTCCTTGTAGCCTCCAGCCCCTCGGCAGGGGTCCCGAGAGCCTCCCCAGAGCCGCCGGGCCACGTGCTGGCTGTGTACAGCTCGAGGCTGGTCATGGTGGAGCCCGTGGAAGCCCAGCCGACCACGCTGGCCGACGCCATCATCCTGCTCACCGAGAGCCGCGGAGAGCGGCACGAGGTGGGTGGGGGTCCCGGGGGAGGGTGGCGTGGGGCAGGGGGAGTATGCCCCAGCACCTCCCCTGCCCCACAACTGCCATTCCTGTGCCCAGGGCCGTGAGGGCATGACCTGCTACTACCTGACACACGGTTGGGCGGGGCTCATCGTGGTGGTGGAGAACCGACACCCCAAGGCCTACCTGCACGTGCAGTGTGACTGCACCGACAGCTTCAACGTGGTGTCCACACGCGGCAGCCTGCGTACCCAGGATAGCGTGCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCCCCACCCCTGCACAGGTGCCCCCTCCCCTACCCCGCTGCACCCACACCCAACTCGTGCCCCCCCACCCCTGCACAGGTGCCCCCTCCCCTACCCCGCTGCACCCACACCCAACCCATGCCCCCCCCACCCCTGCAGAGGTGTGCTCATACCCCTGCCCCCACCCCTGTACGGGTGTTTGTCACCCCACTCCTGCTCCTGCCCCTGTACAGGTGGGCACAGCCCTGCCCCCATCCCCACCCTGCCCTCCACAGGTCCTCACCGGTCCCCTCCCCCAGGCAGGTCCTGGTGATCTTGTCCCAGCTAGAGGGCAACGCCGGCTTCTCTATCACCCACCGCCTGGCACATCGCAAGGCAGCCCAGGCCTTCCTCAGTGACTGGACAGCCTCCAAGGGGACCCACAGCCCCCCACTCACGCCAGAGGTCGCCGGTCTGCATGGGCCCCGACCGCTGTGACCACCATGCCTGGGGCAGGGGCTGTGCACAGACGGACCCCCCACCCCCACACGCACTTTATGAGGGAGACCCCGACAGAGGACGCTTGAGCCAGAATCTCAGGACCCCGCCCAGGGAGCTGCCAGCCCAGGGCTCAGCTTCCCATGGGCCCCCCGCCCCCCTCCTTCCCCTCCCTGAACCCCACAGTCCGCCTGGCCAGGCCTCCTGGCCGCCACGCAGAATACCTCGAACCAGGCGGGCTGTGAACCAGCCCCGCTCACCTGCCAGCCCCAACACCCGACGGGGGCCGAGGCCAGGCTGCCCCTCCCTGTGGGCTCAGGGTCTCCTGCGGGCTAGGCAGCCAGGAGCTCTGTCCGCAAAACCAAATCTGGGTGTCAGAGGCCAAGACCCTGGGGTGGGATCAGGGACCACCCCTCACGGGGCATAAGGTCAGTTTTCCCCCAGAGCCCGGGTCCCTGTCCCCCACAGGGCAGGCGGGGTCCCTGGAGCCCTGGTGTGGAGCGGCGAGTCCCGGGGCGGTGCCTGTCTCAGAAGAAGGGGCCCTTGGCCAGCCCCCCAGCGACACTATGCAAATCCTGGAGTGCCCGCCAGGATCGAAGCCATGACTGGGTGCAGGCGGGCGCCAGGCCCGCTGTGGGTGGGCACCAGTTCTCAGCACCGCTCACTGCTGCCGGGCACACTGGGACCAGCAGGCTCCTCAGCCAACCCTGTCCCTCGGCCCGGCCCTGCCAGAGAGGGACCCCAGCACATCGTGGGCACGGGCAGGGCTCAGCCGCTCCCACCTCCCCACAGAAGCCCAGGAGTGTGTGGACGTCTGAGCCCAGCTTTCTGCGTGCCCTCCTGGCCCCTCACTCCCGGCAGCGGGCCGGCCTCGCCCCCACTCCCCCTCCTACCCCGGCAGGGGCTTCCGGGGCCTTTTCACCTGGAGAAACATTCCCACTCCCCTTTGGCCTCCCTGTACTCTGAGCTGTGAATATTTTTAACCCTGTAAATACGGCCAGCTCTTGTGACACAGAGACTATTTTATCAATTGTCAGTCCCGTTCCTTTACCATAGGATTCTCCACAGTGGCTTCCGACTCAGGCTCCAATGGACCAAATAAAAGCGTTTTGTTTTGTAATCACGCCTCCTCCTCCTGCTGTTGCCCCGCGCAGGGCCCTGTGGAAGGGCGGGGAGGTTGCAGGTCTGAGGGGTAGGCCCTGCCCAGGCATCCCGGGCAGGCGGACGGGTGGGGGCCCCTGGAGATGGCCGTGGTGGGGTGACTCACAAGCTTGTAAGGGGCAGCCGGCCCTGCCAAATGGACGCAGCCAGGAAGGACGGAGTGACTGGGCGGGGGCAGGGGTCAGACCCTGCGGCCGCAGCCCCAGGGCCGGGAAGGACTGGGCAGACGGGAC 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GTCGGTGAGGGTGCCCCGTCGGTGATGGCCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGTCCCTGGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCTTTCGGTGAGGGTCCCCTGTCTGTGAGGGCCCCGGTCGGTGAGGGTCCCCTGTTGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGTCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGTTGGTGAGGGCCCCGGTCGGTGAGGGCGCCCCGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCAGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCGCTCTGCCACACAGGTTCCTCATGGGTGCCTCCTGTGGCGGGGGCAACATGAAGGTGGACGATTCGGCCTACGAGAGCCTGGGCCTGCGCCCCCGGCATGCCTACTCCATCCTGGATGTCCGAGATGTCCAGGGCACCAGGTAGGGCCGGCCTGGCTGAGGGTGGGTGGGGTGCCGGTGAGACTCGGGCAGTGTGGTTCAGATCCTCACCCCTGTGGTCTGCAGGCTTCTGCGGCTCCGAAACCCGTGGGGCCGTTTCTCCTGGAACGGCAGCTGGTCCGACGAGTGGCCACACTGGCCGGGGCACCTGCGTGGCGAGCTCATGCCGCACGGCAGCAGTGAGGGTGTCTTCTGGATGGAGTACGGCGACTTTGTCAGGTATCGGCACCGTGGGGCGGTGTGCACGCCGCCCCCGCCCTCCTAGGGCCGAGTCCTTCTCTGGAGAACAAGCCTGTCCCTCCTGCTGACCTGGGGTGGGGCGGCTTGTTCGTGGCCCAAATGGGACCTGGAGCTTCAGCTCCAAGGTGCCAACCTCAGAATTCAGGTCCACCCAGGTCAGCAGATTCCAGCGCCCTGAAGAGCCGGCCCTGGAGGGCTTCCTATTATAGGCCTCAGGGATGGGCCCCCGGGGGCCGGGCTGCAAGAGGACGGTGACGGAGCAGCTGGCACCTGCTGGGGTCACCGGCCTGTGGTTGCGGTAGGCGCTGAGCCACGGAGGTGTGGGCCGTGGTAGGCTCAGGGCCCCGTCCTCCCGCCACCTGCAGGTACTTCGACTCCGTGGACATCTGTAAGGTGCACTCGGACTGGCAGGAGGCGCGGGTGCAGGGCTGCTTTCCCAGCTCGGCCAGCGCGCCCGTGGGGGTAACAGCGCTCACGGTGCTGGAGCGGGCCTCGCTGGAGTTCGCGCTCTTCCAGGAGGGCAGCAGGTGGGTGCTGCGGGGCCCCATCGGGCTGGGCTGGGCTAGGCTGGCGGCCGTGACCACGCGTGACCCTGGCCCGTGGTGTCTGGCGCAGGCGCTCGGACGCCGTGGACAGCCACCTGCTGGACCTGTGCATCCTGGTGTTCCGGGCCACGTTCGGCAGCGGCGGCCACCTCAGCCTGGGCCGCCTCCTGGCCCACAGTAAGCGCGCGGTCAAGAAGTTCGTCAGCTGCGACGTCATGCTGGAGCCTGGCGAGTACGCTGTGGTGTGCTGCGCCTTCAACCACTGGGGGCCGCCCCTGCCGGGCACCCCTGCCCCCCAGGGTACGTGGCCCCTACCCCAGGCTCATGCCCCAGGCCCACGGGGAGGGCTGCGGTTCACACGCCCGTCCTTGTAGCCTCCAGCCCCTCGGCAGGGGTCCCGAGAGCCTCCCCAGAGCCGCCGGGCCACGTGCTGGCTGTGTACAGCTCGAGGCTGGTCATGGTGGAGCCCGTGGAAGCCCAGCCGACCACGCTGGCCGACGCCATCATCCTGCTCACCGAGAGCCGCGGAGAGCGGCACGAGGTGGGTGGGGGTCCCGGGGGAGGGTGGCGTGGGGCAGGGGGAGTATGCCCCAGCACCTCCCCTGCCCCACAACTGCCATTCCTGTGCCCAGAGCCGTGAGGGCATGACCTGCTACTACCTGACACACGGTTGGGCGGGGCTCATCGTGGTGGTGGAGAACCGACACCCCAAGGCCTACCTGCACGTGCAGTGTGACTGCACCGACAGCTTCAACGTGGTGTCCACACGCGGCAGCCTGCGTACCCAGGATAGCGTGCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCCCCACCCCTGCACAGGTGCCCCCTCCCCTACCCCGCTGCACCCACACCCAACTCGTGCCCCCCCACCCCTGCACAGGTGCCCCCTCCCCTACCCCGCTGCACCCACACCCAACCCATGCCCCCCCCACCCCTGCAGAGGTGTGCTCATACCCCTGCCCCCACCCCTGTACGGGTGTTTGTCACCCCACTCCTGCTCCTGCCCCTGTACAGGTGGGCACAGCCCTGCCCCCATCCCCACCCTGCCCTCCACAGGTCCTCACCGGTCCCCTCCCCCAGGCAGGTCCTGGTGATCTTGTCCCAGCTAGAGGGCAACGCCGGCTTCTCTATCACCCACCGCCTGGCACATCGCAAGGCAGCCCAGGCCTTCCTCAGTGACTGGACAGCCTCCAAGGGGACCCACAGCCCCCCACTCACGCCAGAGGTCGCCGGTCTGCATGGGCCCCGACCGCTGTGACCACCATGCCTGGGGCAGGGGCTGTGCACAGACGGACCCCCCACCCCCACACGCACTTTATGAGGGAGACCCCGACAGAGGACGCTTGAGCCAGAATCTCAGGACCCCGCCCAGGGAGCTGCCAGCCCAGGGCTCAGCTTCCCATGGGCCCCCCGCCCCCCTCCTTCCCCTCCCTGAACCCCACAGTCCGCCTGGCCAGGCCTCCTGGCCGCCACGCAGAATACCTCGAACCAGGCGGGCTGTGAACCAGCCCCGCTCACCTGCCAGCCCCAACACCCGACGGGGGCCGAGGCCAGGCTGCCCCTCCCTGTGGGCTCAGGGTCTCCTGCGGGCTAGGCAGCCAGGAGCTCTGTCCGCAAAACCAAATCTGGGTGTCAGAGGCCAAGACCCTGGGGTGGGATCAGGGACCACCCCTCACGGGGCATAAGGTCAGTTTTCCCCCAGAGCCCGGGTCCCTGTCCCCCACAGGGCAGGCGGGGTCCCTGGAGCCCTGGTGTGGAGCGGCGAGTCCCGGGGCGGTGCCTGTCTCAGAAGAAGGGGCCCTTGGCCAGCCCCCCAGCGACACTATGCAAATCCTGGAGTGCCCGCCAGGATCGAAGCCATGACTGGGTGCAGGCGGGCGCCAGGCCCGCTGTGGGTGGGCACCAGTTCTCAGCACCGCTCACTGCTGCCGGGCACACTGGGACCAGCAGGCTCCTCAGCCAACCCTGTCCCTCGGCCCGGCCCTGCCAGAGAGGGACCCCAGCACATCGTGGGCACGGGCAGGGCTCAGCCGCTCCCACCTCCCCACAGAAGCCCAGGAGTGTGTGGACGTCTGAGCCCAGCTTTCTGCGTGCCCTCCTGGCCCCTCACTCCCGGCAGCGGGCCGGCCTCGCCCCCACTCCCCCTCCTACCCCGGCAGGGGCTTCCGGGGCCTTTTCACCTGGAGAAACATTCCCACTCCCCTTTGGCCTCCCTGTACTCTGAGCTGTGAATATTTTTAACCCTGTAAATACGGCCAGCTCTTGTGACACAGAGACTATTTTATCAATTGTCAGTCCCGTTCCTTTACCATAGGATTCTCCACAGTGGCTTCCGACTCAGGCTCCAATGGACCAAATAAAAGCGTTTTGTTTTGTAATCACGCCTCCTCCTCCTGCTGTTGCCCCGCGCAGGGCCCTGTGGAAGGGCGGGGAGGTTGCAGGTCTGAGGGGTAGGCCCTGCCCAGGCATCCCGGGCAGGCGGACGGGTGGGGGCCCCTGGAGATGGCCGTGGTGGGGTGACTCACAAGCTTGTAAGGGGCAGCCGGCCCTGCCAAATGGACGCAGCCAGGAAGGACGGAGTGACTGGGCGGGGGCAGGGGTCAGACCCTGCGGCCGCAGCCCCAGGGCCGGGAAGGACTGGGCAGACGGGAC 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Task1_train_22010 | Here’s a variant in CAPN15 (calpain 15) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Oculogastrointestinal-neurodevelopmental syndrome | CCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGTCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGTTGGTGAGGGCCCCGGTCGGTGAGGGCGCCCCGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCAGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCGCTCTGCCACACAGGTTCCTCATGGGTGCCTCCTGTGGCGGGGGCAACATGAAGGTGGACGATTCGGCCTACGAGAGCCTGGGCCTGCGCCCCCGGCATGCCTACTCCATCCTGGATGTCCGAGATGTCCAGGGCACCAGGTAGGGCCGGCCTGGCTGAGGGTGGGTGGGGTGCCGGTGAGACTCGGGCAGTGTGGTTCAGATCCTCACCCCTGTGGTCTGCAGGCTTCTGCGGCTCCGAAACCCGTGGGGCCGTTTCTCCTGGAACGGCAGCTGGTCCGACGAGTGGCCACACTGGCCGGGGCACCTGCGTGGCGAGCTCATGCCGCACGGCAGCAGTGAGGGTGTCTTCTGGATGGAGTACGGCGACTTTGTCAGGTATCGGCACCGTGGGGCGGTGTGCACGCCGCCCCCGCCCTCCTAGGGCCGAGTCCTTCTCTGGAGAACAAGCCTGTCCCTCCTGCTGACCTGGGGTGGGGCGGCTTGTTCGTGGCCCAAATGGGACCTGGAGCTTCAGCTCCAAGGTGCCAACCTCAGAATTCAGGTCCACCCAGGTCAGCAGATTCCAGCGCCCTGAAGAGCCGGCCCTGGAGGGCTTCCTATTATAGGCCTCAGGGATGGGCCCCCGGGGGCCGGGCTGCAAGAGGACGGTGACGGAGCAGCTGGCACCTGCTGGGGTCACCGGCCTGTGGTTGCGGTAGGCGCTGAGCCACGGAGGTGTGGGCCGTGGTAGGCTCAGGGCCCCGTCCTCCCGCCACCTGCAGGTACTTCGACTCCGTGGACATCTGTAAGGTGCACTCGGACTGGCAGGAGGCGCGGGTGCAGGGCTGCTTTCCCAGCTCGGCCAGCGCGCCCGTGGGGGTAACAGCGCTCACGGTGCTGGAGCGGGCCTCGCTGGAGTTCGCGCTCTTCCAGGAGGGCAGCAGGTGGGTGCTGCGGGGCCCCATCGGGCTGGGCTGGGCTAGGCTGGCGGCCGTGACCACGCGTGACCCTGGCCCGTGGTGTCTGGCGCAGGCGCTCGGACGCCGTGGACAGCCACCTGCTGGACCTGTGCATCCTGGTGTTCCGGGCCACGTTCGGCAGCGGCGGCCACCTCAGCCTGGGCCGCCTCCTGGCCCACAGTAAGCGCGCGGTCAAGAAGTTCGTCAGCTGCGACGTCATGCTGGAGCCTGGCGAGTACGCTGTGGTGTGCTGCGCCTTCAACCACTGGGGGCCGCCCCTGCCGGGCACCCCTGCCCCCCAGGGTACGTGGCCCCTACCCCAGGCTCATGCCCCAGGCCCACGGGGAGGGCTGCGGTTCACACGCCCGTCCTTGTAGCCTCCAGCCCCTCGGCAGGGGTCCCGAGAGCCTCCCCAGAGCCGCCGGGCCACGTGCTGGCTGTGTACAGCTCGAGGCTGGTCATGGTGGAGCCCGTGGAAGCCCAGCCGACCACGCTGGCCGACGCCATCATCCTGCTCACCGAGAGCCGCGGAGAGCGGCACGAGGTGGGTGGGGGTCCCGGGGGAGGGTGGCGTGGGGCAGGGGGAGTATGCCCCAGCACCTCCCCTGCCCCACAACTGCCATTCCTGTGCCCAGGGCCGTGAGGGCATGACCTGCTACTACCTGACACACGGTTGGGCGGGGCTCATCGTGGTGGTGGAGAACCGACACCCCAAGGCCTACCTGCACGTGCAGTGTGACTGCACCGACAGCTTCAACGTGGTGTCCACACGCGGCAGCCTGCGTACCCAGGATAGCGTGCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCCCCACCCCTGCACAGGTGCCCCCTCCCCTACCCCGCTGCACCCACACCCAACTCGTGCCCCCCCACCCCTGCACAGGTGCCCCCTCCCCTACCCCGCTGCACCCACACCCAACCCATGCCCCCCCCACCCCTGCAGAGGTGTGCTCATACCCCTGCCCCCACCCCTGTACGGGTGTTTGTCACCCCACTCCTGCTCCTGCCCCTGTACAGGTGGGCACAGCCCTGCCCCCATCCCCACCCTGCCCTCCACAGGTCCTCACCGGTCCCCTCCCCCAGGCAGGTCCTGGTGATCTTGTCCCAGCTAGAGGGCAACGCCGGCTTCTCTATCACCCACCGCCTGGCACATCGCAAGGCAGCCCAGGCCTTCCTCAGTGACTGGACAGCCTCCAAGGGGACCCACAGCCCCCCACTCACGCCAGAGGTCGCCGGTCTGCATGGGCCCCGACCGCTGTGACCACCATGCCTGGGGCAGGGGCTGTGCACAGACGGACCCCCCACCCCCACACGCACTTTATGAGGGAGACCCCGACAGAGGACGCTTGAGCCAGAATCTCAGGACCCCGCCCAGGGAGCTGCCAGCCCAGGGCTCAGCTTCCCATGGGCCCCCCGCCCCCCTCCTTCCCCTCCCTGAACCCCACAGTCCGCCTGGCCAGGCCTCCTGGCCGCCACGCAGAATACCTCGAACCAGGCGGGCTGTGAACCAGCCCCGCTCACCTGCCAGCCCCAACACCCGACGGGGGCCGAGGCCAGGCTGCCCCTCCCTGTGGGCTCAGGGTCTCCTGCGGGCTAGGCAGCCAGGAGCTCTGTCCGCAAAACCAAATCTGGGTGTCAGAGGCCAAGACCCTGGGGTGGGATCAGGGACCACCCCTCACGGGGCATAAGGTCAGTTTTCCCCCAGAGCCCGGGTCCCTGTCCCCCACAGGGCAGGCGGGGTCCCTGGAGCCCTGGTGTGGAGCGGCGAGTCCCGGGGCGGTGCCTGTCTCAGAAGAAGGGGCCCTTGGCCAGCCCCCCAGCGACACTATGCAAATCCTGGAGTGCCCGCCAGGATCGAAGCCATGACTGGGTGCAGGCGGGCGCCAGGCCCGCTGTGGGTGGGCACCAGTTCTCAGCACCGCTCACTGCTGCCGGGCACACTGGGACCAGCAGGCTCCTCAGCCAACCCTGTCCCTCGGCCCGGCCCTGCCAGAGAGGGACCCCAGCACATCGTGGGCACGGGCAGGGCTCAGCCGCTCCCACCTCCCCACAGAAGCCCAGGAGTGTGTGGACGTCTGAGCCCAGCTTTCTGCGTGCCCTCCTGGCCCCTCACTCCCGGCAGCGGGCCGGCCTCGCCCCCACTCCCCCTCCTACCCCGGCAGGGGCTTCCGGGGCCTTTTCACCTGGAGAAACATTCCCACTCCCCTTTGGCCTCCCTGTACTCTGAGCTGTGAATATTTTTAACCCTGTAAATACGGCCAGCTCTTGTGACACAGAGACTATTTTATCAATTGTCAGTCCCGTTCCTTTACCATAGGATTCTCCACAGTGGCTTCCGACTCAGGCTCCAATGGACCAAATAAAAGCGTTTTGTTTTGTAATCACGCCTCCTCCTCCTGCTGTTGCCCCGCGCAGGGCCCTGTGGAAGGGCGGGGAGGTTGCAGGTCTGAGGGGTAGGCCCTGCCCAGGCATCCCGGGCAGGCGGACGGGTGGGGGCCCCTGGAGATGGCCGTGGTGGGGTGACTCACAAGCTTGTAAGGGGCAGCCGGCCCTGCCAAATGGACGCAGCCAGGAAGGACGGAGTGACTGGGCGGGGGCAGGGGTCAGACCCTGCGGCCGCAGCCCCAGGGCCGGGAAGGACTGGGCAGACGGGACAGCAGCGCATGCAGCTTCTTCCAGCGAGGCATCCGCACGGGGGGCTCTGTCTGAACCCATCAGTCACCCGGCAGGAGCAGATGGAGTGAGGGGGCGCGTGGGGAGAAAAGTTTCCTGTCCCCTCCCAGCCTCGTCCCAGGGTGGCCTCTGCCCCCACACGGGTGCTGCTGAGCAAAGC 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CCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGTCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGTTGGTGAGGGCCCCGGTCGGTGAGGGCGCCCCGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCAGTCGGTGAGGGTCCCGGTCAGTGAGGGTCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCGCTCTGCCACACAGGTTCCTCATGGGTGCCTCCTGTGGCGGGGGCAACATGAAGGTGGACGATTCGGCCTACGAGAGCCTGGGCCTGCGCCCCCGGCATGCCTACTCCATCCTGGATGTCCGAGATGTCCAGGGCACCAGGTAGGGCCGGCCTGGCTGAGGGTGGGTGGGGTGCCGGTGAGACTCGGGCAGTGTGGTTCAGATCCTCACCCCTGTGGTCTGCAGGCTTCTGCGGCTCCGAAACCCGTGGGGCCGTTTCTCCTGGAACGGCAGCTGGTCCGACGAGTGGCCACACTGGCCGGGGCACCTGCGTGGCGAGCTCATGCCGCACGGCAGCAGTGAGGGTGTCTTCTGGATGGAGTACGGCGACTTTGTCAGGTATCGGCACCGTGGGGCGGTGTGCACGCCGCCCCCGCCCTCCTAGGGCCGAGTCCTTCTCTGGAGAACAAGCCTGTCCCTCCTGCTGACCTGGGGTGGGGCGGCTTGTTCGTGGCCCAAATGGGACCTGGAGCTTCAGCTCCAAGGTGCCAACCTCAGAATTCAGGTCCACCCAGGTCAGCAGATTCCAGCGCCCTGAAGAGCCGGCCCTGGAGGGCTTCCTATTATAGGCCTCAGGGATGGGCCCCCGGGGGCCGGGCTGCAAGAGGACGGTGACGGAGCAGCTGGCACCTGCTGGGGTCACCGGCCTGTGGTTGCGGTAGGCGCTGAGCCACGGAGGTGTGGGCCGTGGTAGGCTCAGGGCCCCGTCCTCCCGCCACCTGCAGGTACTTCGACTCCGTGGACATCTGTAAGGTGCACTCGGACTGGCAGGAGGCGCGGGTGCAGGGCTGCTTTCCCAGCTCGGCCAGCGCGCCCGTGGGGGTAACAGCGCTCACGGTGCTGGAGCGGGCCTCGCTGGAGTTCGCGCTCTTCCAGGAGGGCAGCAGGTGGGTGCTGCGGGGCCCCATCGGGCTGGGCTGGGCTAGGCTGGCGGCCGTGACCACGCGTGACCCTGGCCCGTGGTGTCTGGCGCAGGCGCTCGGACGCCGTGGACAGCCACCTGCTGGACCTGTGCATCCTGGTGTTCCGGGCCACGTTCGGCAGCGGCGGCCACCTCAGCCTGGGCCGCCTCCTGGCCCACAGTAAGCGCGCGGTCAAGAAGTTCGTCAGCTGCGACGTCATGCTGGAGCCTGGCGAGTACGCTGTGGTGTGCTGCGCCTTCAACCACTGGGGGCCGCCCCTGCCGGGCACCCCTGCCCCCCAGGGTACGTGGCCCCTACCCCAGGCTCATGCCCCAGGCCCACGGGGAGGGCTGCGGTTCACACGCCCGTCCTTGTAGCCTCCAGCCCCTCGGCAGGGGTCCCGAGAGCCTCCCCAGAGCCGCCGGGCCACGTGCTGGCTGTGTACAGCTCGAGGCTGGTCATGGTGGAGCCCGTGGAAGCCCAGCCGACCACGCTGGCCGACGCCATCATCCTGCTCACCGAGAGCCGCGGAGAGCGGCACGAGGTGGGTGGGGGTCCCGGGGGAGGGTGGCGTGGGGCAGGGGGAGTATGCCCCAGCACCTCCCCTGCCCCACAACTGCCATTCCTGTGCCCAGGGCCGTGAGGGCATGACCTGCTACTACCTGACACACGGTTGGGCGGGGCTCATCGTGGTGGTGGAGAACCGACACCCCAAGGCCTACCTGCACGTGCAGTGTGACTGCACCGACAGCTTCAACGTGGTGTCCACACGCGGCAGCCTGCGTACCCAGGATAGCGTGCCACCCCTGCACAAGTGCGCCCCCGCCCCTGCCCCCCCACCCCTGCACAGGTGCCCCCTCCCCTACCCCGCTGCACCCACACCCAACTCGTGCCCCCCCACCCCTGCACAGGTGCCCCCTCCCCTACCCCGCTGCACCCACACCCAACCCATGCCCCCCCCACCCCTGCAGAGGTGTGCTCATACCCCTGCCCCCACCCCTGTACGGGTGTTTGTCACCCCACTCCTGCTCCTGCCCCTGTACAGGTGGGCACAGCCCTGCCCCCATCCCCACCCTGCCCTCCACAGGTCCTCACCGGTCCCCTCCCCCAGGCAGGTCCTGGTGATCTTGTCCCAGCTAGAGGGCAACGCCGGCTTCTCTATCACCCACCGCCTGGCACATCGCAAGGCAGCCCAGGCCTTCCTCAGTGACTGGACAGCCTCCAAGGGGACCCACAGCCCCCCACTCACGCCAGAGGTCGCCGGTCTGCATGGGCCCCGACCGCTGTGACCACCATGCCTGGGGCAGGGGCTGTGCACAGACGGACCCCCCACCCCCACACGCACTTTATGAGGGAGACCCCGACAGAGGACGCTTGAGCCAGAATCTCAGGACCCCGCCCAGGGAGCTGCCAGCCCAGGGCTCAGCTTCCCATGGGCCCCCCGCCCCCCTCCTTCCCCTCCCTGAACCCCACAGTCCGCCTGGCCAGGCCTCCTGGCCGCCACGCAGAATACCTCGAACCAGGCGGGCTGTGAACCAGCCCCGCTCACCTGCCAGCCCCAACACCCGACGGGGGCCGAGGCCAGGCTGCCCCTCCCTGTGGGCTCAGGGTCTCCTGCGGGCTAGGCAGCCAGGAGCTCTGTCCGCAAAACCAAATCTGGGTGTCAGAGGCCAAGACCCTGGGGTGGGATCAGGGACCACCCCTCACGGGGCATAAGGTCAGTTTTCCCCCAGAGCCCGGGTCCCTGTCCCCCACAGGGCAGGCGGGGTCCCTGGAGCCCTGGTGTGGAGCGGCGAGTCCCGGGGCGGTGCCTGTCTCAGAAGAAGGGGCCCTTGGCCAGCCCCCCAGCGACACTATGCAAATCCTGGAGTGCCCGCCAGGATCGAAGCCATGACTGGGTGCAGGCGGGCGCCAGGCCCGCTGTGGGTGGGCACCAGTTCTCAGCACCGCTCACTGCTGCCGGGCACACTGGGACCAGCAGGCTCCTCAGCCAACCCTGTCCCTCGGCCCGGCCCTGCCAGAGAGGGACCCCAGCACATCGTGGGCACGGGCAGGGCTCAGCCGCTCCCACCTCCCCACAGAAGCCCAGGAGTGTGTGGACGTCTGAGCCCAGCTTTCTGCGTGCCCTCCTGGCCCCTCACTCCCGGCAGCGGGCCGGCCTCGCCCCCACTCCCCCTCCTACCCCGGCAGGGGCTTCCGGGGCCTTTTCACCTGGAGAAACATTCCCACTCCCCTTTGGCCTCCCTGTACTCTGAGCTGTGAATATTTTTAACCCTGTAAATACGGCCAGCTCTTGTGACACAGAGACTATTTTATCAATTGTCAGTCCCGTTCCTTTACCATAGGATTCTCCACAGTGGCTTCCGACTCAGGCTCCAATGGACCAAATAAAAGCGTTTTGTTTTGTAATCACGCCTCCTCCTCCTGCTGTTGCCCCGCGCAGGGCCCTGTGGAAGGGCGGGGAGGTTGCAGGTCTGAGGGGTAGGCCCTGCCCAGGCATCCCGGGCAGGCGGACGGGTGGGGGCCCCTGGAGATGGCCGTGGTGGGGTGACTCACAAGCTTGTAAGGGGCAGCCGGCCCTGCCAAATGGACGCAGCCAGGAAGGACGGAGTGACTGGGCGGGGGCAGGGGTCAGACCCTGCGGCCGCAGCCCCAGGGCCGGGAAGGACTGGGCAGACGGGACAGCAGCGCATGCAGCTTCTTCCAGCGAGGCATCCGCACGGGGGGCTCTGTCTGAACCCATCAGTCACCCGGCAGGAGCAGATGGAGTGAGGGGGCGCGTGGGGAGAAAAGTTTCCTGTCCCCTCCCAGCCTCGTCCCAGGGTGGCCTCTGCCCCCACACGGGTGCTGCTGAGCAAAGC 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Task1_train_22011 | The gene STUB1 (STIP1 homology and U-box containing protein 1) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Spinocerebellar ataxia 48 | CCTGCCGTCCAGTGAGACCCGGAGGCCTGAGGTTCTGTGGCAGGTGAGCAGGCCTGGGCCATGGCCAAGTTTACTCGGCCTGGGTTCCATGCTTCTTGGCTGGCCTAGCATCCTCGTGGGTGGCCAGGCTGGGGCCAAGGTTGGGCAGCAGGTCTGGGCACAGCCTCTGCCCCACAGCCCAGGTCCACAGTGCTGTCTCCACTAGGTAGGGAGTCCACTGTCCTGAGGCACTGGCTAGGGAGGGGCACACGGACTCAGGCCCAGGGGCACGGGCCACCCCAACCTGCCCACACACAGTTCATTCCCCTTGGCTCAGAGCTGTGGCCCGCTCTTGAACCTGGCCCAGGTACAGCAGGTAGTACCTGAGGGTGTACTGTGGGGCCGGCCAGCCGGGCACTGTGGCCACCGCCTCATCTGACATGAAGGCCTCCATCTCTGGAGCTCCAGCTGCCAGGACTGCTGTGAACAGCGAGGAGAAGCAGCCAGACACACCCCATCAGGACAAGCTCTGGGAGACCCTGCTCCCAGCAGCCCAGGGCCCTATGGTTCCTGCTCCTAGCGACACGCAAGGGCCCAGACTGCCCGCTTCACAGACAAGAACGCCTATGTACCCAAGTCGTGCCCACCCAACTCACCCGAGGCTGTGGTGGGCCCACACCGCAGAGGGCACACAGCTCGGTGACTGCAGCCCCCACATCTGGCAGGAGGCAGAAGGTGGCGGTCGAACAGTGCACAACCAGCTCAGGGGGATTGGTGGCCACCAGCTGCTGCAGACGTGGCCGGAAGCGCCCCTCTGTGGGAGGCCAGGTCAGGGTGCCTGGGGTGCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGGTGCTGGGGGCGGGGCCTCTGGATTGGGCGGTTGCTGGGGGCGGGGCCTCTGCGGATGGGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTGGATGGGGCCGGCTGCCGGGGGAGGGGTCTCTGCGCGTTGGGACAGGGGCGGAACCCCAGGTGGTCGGGACAGGCTGTTGCGGGAGCGCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGG 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CCTGCCGTCCAGTGAGACCCGGAGGCCTGAGGTTCTGTGGCAGGTGAGCAGGCCTGGGCCATGGCCAAGTTTACTCGGCCTGGGTTCCATGCTTCTTGGCTGGCCTAGCATCCTCGTGGGTGGCCAGGCTGGGGCCAAGGTTGGGCAGCAGGTCTGGGCACAGCCTCTGCCCCACAGCCCAGGTCCACAGTGCTGTCTCCACTAGGTAGGGAGTCCACTGTCCTGAGGCACTGGCTAGGGAGGGGCACACGGACTCAGGCCCAGGGGCACGGGCCACCCCAACCTGCCCACACACAGTTCATTCCCCTTGGCTCAGAGCTGTGGCCCGCTCTTGAACCTGGCCCAGGTACAGCAGGTAGTACCTGAGGGTGTACTGTGGGGCCGGCCAGCCGGGCACTGTGGCCACCGCCTCATCTGACATGAAGGCCTCCATCTCTGGAGCTCCAGCTGCCAGGACTGCTGTGAACAGCGAGGAGAAGCAGCCAGACACACCCCATCAGGACAAGCTCTGGGAGACCCTGCTCCCAGCAGCCCAGGGCCCTATGGTTCCTGCTCCTAGCGACACGCAAGGGCCCAGACTGCCCGCTTCACAGACAAGAACGCCTATGTACCCAAGTCGTGCCCACCCAACTCACCCGAGGCTGTGGTGGGCCCACACCGCAGAGGGCACACAGCTCGGTGACTGCAGCCCCCACATCTGGCAGGAGGCAGAAGGTGGCGGTCGAACAGTGCACAACCAGCTCAGGGGGATTGGTGGCCACCAGCTGCTGCAGACGTGGCCGGAAGCGCCCCTCTGTGGGAGGCCAGGTCAGGGTGCCTGGGGTGCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGGTGCTGGGGGCGGGGCCTCTGGATTGGGCGGTTGCTGGGGGCGGGGCCTCTGCGGATGGGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTGGATGGGGCCGGCTGCCGGGGGAGGGGTCTCTGCGCGTTGGGACAGGGGCGGAACCCCAGGTGGTCGGGACAGGCTGTTGCGGGAGCGCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGAGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGG 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Task1_train_22012 | A variant was discovered on Chromosome 16, affecting STUB1 (STIP1 homology and U-box containing protein 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Spinocerebellar ataxia 48 | GGGCCCAGACTGCCCGCTTCACAGACAAGAACGCCTATGTACCCAAGTCGTGCCCACCCAACTCACCCGAGGCTGTGGTGGGCCCACACCGCAGAGGGCACACAGCTCGGTGACTGCAGCCCCCACATCTGGCAGGAGGCAGAAGGTGGCGGTCGAACAGTGCACAACCAGCTCAGGGGGATTGGTGGCCACCAGCTGCTGCAGACGTGGCCGGAAGCGCCCCTCTGTGGGAGGCCAGGTCAGGGTGCCTGGGGTGCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGGTGCTGGGGGCGGGGCCTCTGGATTGGGCGGTTGCTGGGGGCGGGGCCTCTGCGGATGGGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTGGATGGGGCCGGCTGCCGGGGGAGGGGTCTCTGCGCGTTGGGACAGGGGCGGAACCCCAGGTGGTCGGGACAGGCTGTTGCGGGAGCGCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGT 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GGGCCCAGACTGCCCGCTTCACAGACAAGAACGCCTATGTACCCAAGTCGTGCCCACCCAACTCACCCGAGGCTGTGGTGGGCCCACACCGCAGAGGGCACACAGCTCGGTGACTGCAGCCCCCACATCTGGCAGGAGGCAGAAGGTGGCGGTCGAACAGTGCACAACCAGCTCAGGGGGATTGGTGGCCACCAGCTGCTGCAGACGTGGCCGGAAGCGCCCCTCTGTGGGAGGCCAGGTCAGGGTGCCTGGGGTGCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGGTGCTGGGGGCGGGGCCTCTGGATTGGGCGGTTGCTGGGGGCGGGGCCTCTGCGGATGGGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTGGATGGGGCCGGCTGCCGGGGGAGGGGTCTCTGCGCGTTGGGACAGGGGCGGAACCCCAGGTGGTCGGGACAGGCTGTTGCGGGAGCGCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGACCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGT 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Task1_train_22013 | The gene STUB1 (STIP1 homology and U-box containing protein 1) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive spinocerebellar ataxia 16 | ATGTACCCAAGTCGTGCCCACCCAACTCACCCGAGGCTGTGGTGGGCCCACACCGCAGAGGGCACACAGCTCGGTGACTGCAGCCCCCACATCTGGCAGGAGGCAGAAGGTGGCGGTCGAACAGTGCACAACCAGCTCAGGGGGATTGGTGGCCACCAGCTGCTGCAGACGTGGCCGGAAGCGCCCCTCTGTGGGAGGCCAGGTCAGGGTGCCTGGGGTGCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGGTGCTGGGGGCGGGGCCTCTGGATTGGGCGGTTGCTGGGGGCGGGGCCTCTGCGGATGGGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTGGATGGGGCCGGCTGCCGGGGGAGGGGTCTCTGCGCGTTGGGACAGGGGCGGAACCCCAGGTGGTCGGGACAGGCTGTTGCGGGAGCGCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTA 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ATGTACCCAAGTCGTGCCCACCCAACTCACCCGAGGCTGTGGTGGGCCCACACCGCAGAGGGCACACAGCTCGGTGACTGCAGCCCCCACATCTGGCAGGAGGCAGAAGGTGGCGGTCGAACAGTGCACAACCAGCTCAGGGGGATTGGTGGCCACCAGCTGCTGCAGACGTGGCCGGAAGCGCCCCTCTGTGGGAGGCCAGGTCAGGGTGCCTGGGGTGCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGGTGCTGGGGGCGGGGCCTCTGGATTGGGCGGTTGCTGGGGGCGGGGCCTCTGCGGATGGGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTGGATGGGGCCGGCTGCCGGGGGAGGGGTCTCTGCGCGTTGGGACAGGGGCGGAACCCCAGGTGGTCGGGACAGGCTGTTGCGGGAGCGCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGACCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTA 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Task1_train_22014 | The variant affects gene STUB1 (STIP1 homology and U-box containing protein 1), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal recessive spinocerebellar ataxia 16 | TGTACCCAAGTCGTGCCCACCCAACTCACCCGAGGCTGTGGTGGGCCCACACCGCAGAGGGCACACAGCTCGGTGACTGCAGCCCCCACATCTGGCAGGAGGCAGAAGGTGGCGGTCGAACAGTGCACAACCAGCTCAGGGGGATTGGTGGCCACCAGCTGCTGCAGACGTGGCCGGAAGCGCCCCTCTGTGGGAGGCCAGGTCAGGGTGCCTGGGGTGCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGGTGCTGGGGGCGGGGCCTCTGGATTGGGCGGTTGCTGGGGGCGGGGCCTCTGCGGATGGGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTGGATGGGGCCGGCTGCCGGGGGAGGGGTCTCTGCGCGTTGGGACAGGGGCGGAACCCCAGGTGGTCGGGACAGGCTGTTGCGGGAGCGCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTAC 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TGTACCCAAGTCGTGCCCACCCAACTCACCCGAGGCTGTGGTGGGCCCACACCGCAGAGGGCACACAGCTCGGTGACTGCAGCCCCCACATCTGGCAGGAGGCAGAAGGTGGCGGTCGAACAGTGCACAACCAGCTCAGGGGGATTGGTGGCCACCAGCTGCTGCAGACGTGGCCGGAAGCGCCCCTCTGTGGGAGGCCAGGTCAGGGTGCCTGGGGTGCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGGTGCTGGGGGCGGGGCCTCTGGATTGGGCGGTTGCTGGGGGCGGGGCCTCTGCGGATGGGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTGGATGGGGCCGGCTGCCGGGGGAGGGGTCTCTGCGCGTTGGGACAGGGGCGGAACCCCAGGTGGTCGGGACAGGCTGTTGCGGGAGCGCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGACCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTAC 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Task1_train_22015 | The following genetic variant occurs in STUB1 (STIP1 homology and U-box containing protein 1) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autosomal recessive spinocerebellar ataxia 16 | GCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGGTGCTGGGGGCGGGGCCTCTGGATTGGGCGGTTGCTGGGGGCGGGGCCTCTGCGGATGGGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTGGATGGGGCCGGCTGCCGGGGGAGGGGTCTCTGCGCGTTGGGACAGGGGCGGAACCCCAGGTGGTCGGGACAGGCTGTTGCGGGAGCGCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTACTCACCGACAGAAGCCTCAGTCCTTCCCAGTCCCAAGAAGCACCCACCTGCGATTCCAAAGCTGTAAGCTGGAGCGGTTCCCAGCAGGCCAAATGGGGGTGGGGAGTAGTGCCGAAAGAGAGAGGCCCACTCGGTGAAGTTGTTGTCCCCGAAGAAGTACAGGGTGTCTGCCAACAGAGACGGCGGGGACAGGGATCCTGGCACCTGGAGACTCCAAGC 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GCTGGACCCACCAGGGAGGCCCCGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGGTGCTGGGGGCGGGGCCTCTGGATTGGGCGGTTGCTGGGGGCGGGGCCTCTGCGGATGGGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTGGATGGGGCCGGCTGCCGGGGGAGGGGTCTCTGCGCGTTGGGACAGGGGCGGAACCCCAGGTGGTCGGGACAGGCTGTTGCGGGAGCGCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCGTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTACTCACCGACAGAAGCCTCAGTCCTTCCCAGTCCCAAGAAGCACCCACCTGCGATTCCAAAGCTGTAAGCTGGAGCGGTTCCCAGCAGGCCAAATGGGGGTGGGGAGTAGTGCCGAAAGAGAGAGGCCCACTCGGTGAAGTTGTTGTCCCCGAAGAAGTACAGGGTGTCTGCCAACAGAGACGGCGGGGACAGGGATCCTGGCACCTGGAGACTCCAAGC 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Task1_train_22016 | Here is a genetic alteration in STUB1 (STIP1 homology and U-box containing protein 1) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive spinocerebellar ataxia 16 | CGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGGTGCTGGGGGCGGGGCCTCTGGATTGGGCGGTTGCTGGGGGCGGGGCCTCTGCGGATGGGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTGGATGGGGCCGGCTGCCGGGGGAGGGGTCTCTGCGCGTTGGGACAGGGGCGGAACCCCAGGTGGTCGGGACAGGCTGTTGCGGGAGCGCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTACTCACCGACAGAAGCCTCAGTCCTTCCCAGTCCCAAGAAGCACCCACCTGCGATTCCAAAGCTGTAAGCTGGAGCGGTTCCCAGCAGGCCAAATGGGGGTGGGGAGTAGTGCCGAAAGAGAGAGGCCCACTCGGTGAAGTTGTTGTCCCCGAAGAAGTACAGGGTGTCTGCCAACAGAGACGGCGGGGACAGGGATCCTGGCACCTGGAGACTCCAAGCGTCCCCACCCCCTACCGCCGCC 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CGCCCCCACTGGAGACACCCGCCCCGCCGATGCCACGCCCCAATGAAGACCCGCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGGTGCTGGGGGCGGGGCCTCTGGATTGGGCGGTTGCTGGGGGCGGGGCCTCTGCGGATGGGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTGGATGGGGCCGGCTGCCGGGGGAGGGGTCTCTGCGCGTTGGGACAGGGGCGGAACCCCAGGTGGTCGGGACAGGCTGTTGCGGGAGCGCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGATCTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTACTCACCGACAGAAGCCTCAGTCCTTCCCAGTCCCAAGAAGCACCCACCTGCGATTCCAAAGCTGTAAGCTGGAGCGGTTCCCAGCAGGCCAAATGGGGGTGGGGAGTAGTGCCGAAAGAGAGAGGCCCACTCGGTGAAGTTGTTGTCCCCGAAGAAGTACAGGGTGTCTGCCAACAGAGACGGCGGGGACAGGGATCCTGGCACCTGGAGACTCCAAGCGTCCCCACCCCCTACCGCCGCC 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Task1_train_22017 | Gene STUB1 (STIP1 homology and U-box containing protein 1) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal recessive spinocerebellar ataxia 16 | GCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGGTGCTGGGGGCGGGGCCTCTGGATTGGGCGGTTGCTGGGGGCGGGGCCTCTGCGGATGGGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTGGATGGGGCCGGCTGCCGGGGGAGGGGTCTCTGCGCGTTGGGACAGGGGCGGAACCCCAGGTGGTCGGGACAGGCTGTTGCGGGAGCGCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTACTCACCGACAGAAGCCTCAGTCCTTCCCAGTCCCAAGAAGCACCCACCTGCGATTCCAAAGCTGTAAGCTGGAGCGGTTCCCAGCAGGCCAAATGGGGGTGGGGAGTAGTGCCGAAAGAGAGAGGCCCACTCGGTGAAGTTGTTGTCCCCGAAGAAGTACAGGGTGTCTGCCAACAGAGACGGCGGGGACAGGGATCCTGGCACCTGGAGACTCCAAGCGTCCCCACCCCCTACCGCCGCCTAGGGCTGCCTCACCATTGCCCAGGGAGGTGGGGTCCTGGGGGTGCAGCAGC 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GCGCTACGGAGGCCCTGCCCTCGGGGCGGGCCGCCCTTCACAGTCAAGCTGCCAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGGTGCTGGGGGCGGGGCCTCTGGATTGGGCGGTTGCTGGGGGCGGGGCCTCTGCGGATGGGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTGGATGGGGCCGGCTGCCGGGGGAGGGGTCTCTGCGCGTTGGGACAGGGGCGGAACCCCAGGTGGTCGGGACAGGCTGTTGCGGGAGCGCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGTAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTACTCACCGACAGAAGCCTCAGTCCTTCCCAGTCCCAAGAAGCACCCACCTGCGATTCCAAAGCTGTAAGCTGGAGCGGTTCCCAGCAGGCCAAATGGGGGTGGGGAGTAGTGCCGAAAGAGAGAGGCCCACTCGGTGAAGTTGTTGTCCCCGAAGAAGTACAGGGTGTCTGCCAACAGAGACGGCGGGGACAGGGATCCTGGCACCTGGAGACTCCAAGCGTCCCCACCCCCTACCGCCGCCTAGGGCTGCCTCACCATTGCCCAGGGAGGTGGGGTCCTGGGGGTGCAGCAGC 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Task1_train_22018 | This variant affects gene STUB1 (STIP1 homology and U-box containing protein 1) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive spinocerebellar ataxia 16 | CAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGGTGCTGGGGGCGGGGCCTCTGGATTGGGCGGTTGCTGGGGGCGGGGCCTCTGCGGATGGGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTGGATGGGGCCGGCTGCCGGGGGAGGGGTCTCTGCGCGTTGGGACAGGGGCGGAACCCCAGGTGGTCGGGACAGGCTGTTGCGGGAGCGCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTACTCACCGACAGAAGCCTCAGTCCTTCCCAGTCCCAAGAAGCACCCACCTGCGATTCCAAAGCTGTAAGCTGGAGCGGTTCCCAGCAGGCCAAATGGGGGTGGGGAGTAGTGCCGAAAGAGAGAGGCCCACTCGGTGAAGTTGTTGTCCCCGAAGAAGTACAGGGTGTCTGCCAACAGAGACGGCGGGGACAGGGATCCTGGCACCTGGAGACTCCAAGCGTCCCCACCCCCTACCGCCGCCTAGGGCTGCCTCACCATTGCCCAGGGAGGTGGGGTCCTGGGGGTGCAGCAGCTGCTCCACATACTCCTGGAAGGGCAAGTCCACTGCAGGAAAGAGACGGGTCA 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CAGGCCAGCAGCCGCTCCAGCTCCCTGTCACATGCTTCTCTGCTCTGCCCCTGATGGCCGCTGGCAACTCTTCCCGATACCTGAGGAAGGGCGGTGAGGGGAGGACTGGCCACGGAGGACGCTCGCCCCACCGATCTCTATCCCCTTCCACTCTACCAACAGTCCGGGGCTTCCAGCCGCCCTCGGGGGCTCGCGCTCGCCCGTAGCACCTCTCGTGGCGCTCCAGAATGGCAGCCCAGCGACTGGGGTCCTCACACCCCACAGCGCGTGGGAAGCCGCTACGTTCACGCGCAGGGGCGGGAGGCGGCGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGGTGCTGGGGGCGGGGCCTCTGGATTGGGCGGTTGCTGGGGGCGGGGCCTCTGCGGATGGGGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTGGATGGGGCCGGCTGCCGGGGGAGGGGTCTCTGCGCGTTGGGACAGGGGCGGAACCCCAGGTGGTCGGGACAGGCTGTTGCGGGAGCGCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACTTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTACTCACCGACAGAAGCCTCAGTCCTTCCCAGTCCCAAGAAGCACCCACCTGCGATTCCAAAGCTGTAAGCTGGAGCGGTTCCCAGCAGGCCAAATGGGGGTGGGGAGTAGTGCCGAAAGAGAGAGGCCCACTCGGTGAAGTTGTTGTCCCCGAAGAAGTACAGGGTGTCTGCCAACAGAGACGGCGGGGACAGGGATCCTGGCACCTGGAGACTCCAAGCGTCCCCACCCCCTACCGCCGCCTAGGGCTGCCTCACCATTGCCCAGGGAGGTGGGGTCCTGGGGGTGCAGCAGCTGCTCCACATACTCCTGGAAGGGCAAGTCCACTGCAGGAAAGAGACGGGTCA 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Task1_train_22019 | Here’s a variant in JMJD8, STUB1 (jumonji domain containing 8| STIP1 homology and U-box containing protein 1) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Spinocerebellar ataxia 48 | GCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTACTCACCGACAGAAGCCTCAGTCCTTCCCAGTCCCAAGAAGCACCCACCTGCGATTCCAAAGCTGTAAGCTGGAGCGGTTCCCAGCAGGCCAAATGGGGGTGGGGAGTAGTGCCGAAAGAGAGAGGCCCACTCGGTGAAGTTGTTGTCCCCGAAGAAGTACAGGGTGTCTGCCAACAGAGACGGCGGGGACAGGGATCCTGGCACCTGGAGACTCCAAGCGTCCCCACCCCCTACCGCCGCCTAGGGCTGCCTCACCATTGCCCAGGGAGGTGGGGTCCTGGGGGTGCAGCAGCTGCTCCACATACTCCTGGAAGGGCAAGTCCACTGCAGGAAAGAGACGGGTCAGGACCGTCTGGTCCAGCCGCCCCGGTGTTGGCAAATGGGCGGGCCCCAGGGGTGAGGCCGCGTACCTTTGTGGTAGGAGTAGGTGTTGGCGGTGCTCAGCCGGACCACTCTGTCCCCAAACGAAGCCAGCAACCTGTCGCGGGAGCACAGGGCCCGGAACCTCTGCGGGGGCGGGGAGGGGACTTAGTGGCCGGGCCCAGCACGGGCGAGAGTGGCCGGGGACGGACGGGCACGCGCTCACCGAGTTGTCCGTGAGTCCCTGCAGGATGACGGGCCTGACGAAGGCGTACCTGGAAAGAAGGGCAGAGTCGCGGCCAGGCCGGACCGCCAGCCTCGCCGCCCCAGCCCCACGCGTGCGCGCGAGGTCAGGGGAAGGCGGCCTTGGGCGGTCGGGGCAGACGGGCCGGTGAACAGGACGCGACCTCCGCGATCAGGGGCGCACGTACTGCTGCACGAACTCCGCGTAGGTGAGGTCGGCCCGACGCTCCACCGTGCAGCGCTCCTCCTCCGCCACGGCCCCCGGCCCGCCCGGGCGCCTGCGGGCACAGCTGGGTCAGCCCGCGCCCCGCCCGCCGCACGTGACCCCACCGCCCGGCCCCTCCCGG 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GCGCCCTCAGCGAAGCAAGTGAGGCATCTCACTGGGAAAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCTCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTACTCACCGACAGAAGCCTCAGTCCTTCCCAGTCCCAAGAAGCACCCACCTGCGATTCCAAAGCTGTAAGCTGGAGCGGTTCCCAGCAGGCCAAATGGGGGTGGGGAGTAGTGCCGAAAGAGAGAGGCCCACTCGGTGAAGTTGTTGTCCCCGAAGAAGTACAGGGTGTCTGCCAACAGAGACGGCGGGGACAGGGATCCTGGCACCTGGAGACTCCAAGCGTCCCCACCCCCTACCGCCGCCTAGGGCTGCCTCACCATTGCCCAGGGAGGTGGGGTCCTGGGGGTGCAGCAGCTGCTCCACATACTCCTGGAAGGGCAAGTCCACTGCAGGAAAGAGACGGGTCAGGACCGTCTGGTCCAGCCGCCCCGGTGTTGGCAAATGGGCGGGCCCCAGGGGTGAGGCCGCGTACCTTTGTGGTAGGAGTAGGTGTTGGCGGTGCTCAGCCGGACCACTCTGTCCCCAAACGAAGCCAGCAACCTGTCGCGGGAGCACAGGGCCCGGAACCTCTGCGGGGGCGGGGAGGGGACTTAGTGGCCGGGCCCAGCACGGGCGAGAGTGGCCGGGGACGGACGGGCACGCGCTCACCGAGTTGTCCGTGAGTCCCTGCAGGATGACGGGCCTGACGAAGGCGTACCTGGAAAGAAGGGCAGAGTCGCGGCCAGGCCGGACCGCCAGCCTCGCCGCCCCAGCCCCACGCGTGCGCGCGAGGTCAGGGGAAGGCGGCCTTGGGCGGTCGGGGCAGACGGGCCGGTGAACAGGACGCGACCTCCGCGATCAGGGGCGCACGTACTGCTGCACGAACTCCGCGTAGGTGAGGTCGGCCCGACGCTCCACCGTGCAGCGCTCCTCCTCCGCCACGGCCCCCGGCCCGCCCGGGCGCCTGCGGGCACAGCTGGGTCAGCCCGCGCCCCGCCCGCCGCACGTGACCCCACCGCCCGGCCCCTCCCGG 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Task1_train_22020 | This alteration occurs within gene JMJD8, STUB1 (jumonji domain containing 8| STIP1 homology and U-box containing protein 1) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive spinocerebellar ataxia 16 | AAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTACTCACCGACAGAAGCCTCAGTCCTTCCCAGTCCCAAGAAGCACCCACCTGCGATTCCAAAGCTGTAAGCTGGAGCGGTTCCCAGCAGGCCAAATGGGGGTGGGGAGTAGTGCCGAAAGAGAGAGGCCCACTCGGTGAAGTTGTTGTCCCCGAAGAAGTACAGGGTGTCTGCCAACAGAGACGGCGGGGACAGGGATCCTGGCACCTGGAGACTCCAAGCGTCCCCACCCCCTACCGCCGCCTAGGGCTGCCTCACCATTGCCCAGGGAGGTGGGGTCCTGGGGGTGCAGCAGCTGCTCCACATACTCCTGGAAGGGCAAGTCCACTGCAGGAAAGAGACGGGTCAGGACCGTCTGGTCCAGCCGCCCCGGTGTTGGCAAATGGGCGGGCCCCAGGGGTGAGGCCGCGTACCTTTGTGGTAGGAGTAGGTGTTGGCGGTGCTCAGCCGGACCACTCTGTCCCCAAACGAAGCCAGCAACCTGTCGCGGGAGCACAGGGCCCGGAACCTCTGCGGGGGCGGGGAGGGGACTTAGTGGCCGGGCCCAGCACGGGCGAGAGTGGCCGGGGACGGACGGGCACGCGCTCACCGAGTTGTCCGTGAGTCCCTGCAGGATGACGGGCCTGACGAAGGCGTACCTGGAAAGAAGGGCAGAGTCGCGGCCAGGCCGGACCGCCAGCCTCGCCGCCCCAGCCCCACGCGTGCGCGCGAGGTCAGGGGAAGGCGGCCTTGGGCGGTCGGGGCAGACGGGCCGGTGAACAGGACGCGACCTCCGCGATCAGGGGCGCACGTACTGCTGCACGAACTCCGCGTAGGTGAGGTCGGCCCGACGCTCCACCGTGCAGCGCTCCTCCTCCGCCACGGCCCCCGGCCCGCCCGGGCGCCTGCGGGCACAGCTGGGTCAGCCCGCGCCCCGCCCGCCGCACGTGACCCCACCGCCCGGCCCCTCCCGGGCCGCTCACCACCCGCCGTCGCCCTCCGCCCCGGAGC 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AAGTCGAATGTGTGTGGCGGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGACGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTACTCACCGACAGAAGCCTCAGTCCTTCCCAGTCCCAAGAAGCACCCACCTGCGATTCCAAAGCTGTAAGCTGGAGCGGTTCCCAGCAGGCCAAATGGGGGTGGGGAGTAGTGCCGAAAGAGAGAGGCCCACTCGGTGAAGTTGTTGTCCCCGAAGAAGTACAGGGTGTCTGCCAACAGAGACGGCGGGGACAGGGATCCTGGCACCTGGAGACTCCAAGCGTCCCCACCCCCTACCGCCGCCTAGGGCTGCCTCACCATTGCCCAGGGAGGTGGGGTCCTGGGGGTGCAGCAGCTGCTCCACATACTCCTGGAAGGGCAAGTCCACTGCAGGAAAGAGACGGGTCAGGACCGTCTGGTCCAGCCGCCCCGGTGTTGGCAAATGGGCGGGCCCCAGGGGTGAGGCCGCGTACCTTTGTGGTAGGAGTAGGTGTTGGCGGTGCTCAGCCGGACCACTCTGTCCCCAAACGAAGCCAGCAACCTGTCGCGGGAGCACAGGGCCCGGAACCTCTGCGGGGGCGGGGAGGGGACTTAGTGGCCGGGCCCAGCACGGGCGAGAGTGGCCGGGGACGGACGGGCACGCGCTCACCGAGTTGTCCGTGAGTCCCTGCAGGATGACGGGCCTGACGAAGGCGTACCTGGAAAGAAGGGCAGAGTCGCGGCCAGGCCGGACCGCCAGCCTCGCCGCCCCAGCCCCACGCGTGCGCGCGAGGTCAGGGGAAGGCGGCCTTGGGCGGTCGGGGCAGACGGGCCGGTGAACAGGACGCGACCTCCGCGATCAGGGGCGCACGTACTGCTGCACGAACTCCGCGTAGGTGAGGTCGGCCCGACGCTCCACCGTGCAGCGCTCCTCCTCCGCCACGGCCCCCGGCCCGCCCGGGCGCCTGCGGGCACAGCTGGGTCAGCCCGCGCCCCGCCCGCCGCACGTGACCCCACCGCCCGGCCCCTCCCGGGCCGCTCACCACCCGCCGTCGCCCTCCGCCCCGGAGC 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Task1_train_22021 | This is a variant in JMJD8, STUB1 (jumonji domain containing 8| STIP1 homology and U-box containing protein 1), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Spinocerebellar ataxia 48 | GGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTACTCACCGACAGAAGCCTCAGTCCTTCCCAGTCCCAAGAAGCACCCACCTGCGATTCCAAAGCTGTAAGCTGGAGCGGTTCCCAGCAGGCCAAATGGGGGTGGGGAGTAGTGCCGAAAGAGAGAGGCCCACTCGGTGAAGTTGTTGTCCCCGAAGAAGTACAGGGTGTCTGCCAACAGAGACGGCGGGGACAGGGATCCTGGCACCTGGAGACTCCAAGCGTCCCCACCCCCTACCGCCGCCTAGGGCTGCCTCACCATTGCCCAGGGAGGTGGGGTCCTGGGGGTGCAGCAGCTGCTCCACATACTCCTGGAAGGGCAAGTCCACTGCAGGAAAGAGACGGGTCAGGACCGTCTGGTCCAGCCGCCCCGGTGTTGGCAAATGGGCGGGCCCCAGGGGTGAGGCCGCGTACCTTTGTGGTAGGAGTAGGTGTTGGCGGTGCTCAGCCGGACCACTCTGTCCCCAAACGAAGCCAGCAACCTGTCGCGGGAGCACAGGGCCCGGAACCTCTGCGGGGGCGGGGAGGGGACTTAGTGGCCGGGCCCAGCACGGGCGAGAGTGGCCGGGGACGGACGGGCACGCGCTCACCGAGTTGTCCGTGAGTCCCTGCAGGATGACGGGCCTGACGAAGGCGTACCTGGAAAGAAGGGCAGAGTCGCGGCCAGGCCGGACCGCCAGCCTCGCCGCCCCAGCCCCACGCGTGCGCGCGAGGTCAGGGGAAGGCGGCCTTGGGCGGTCGGGGCAGACGGGCCGGTGAACAGGACGCGACCTCCGCGATCAGGGGCGCACGTACTGCTGCACGAACTCCGCGTAGGTGAGGTCGGCCCGACGCTCCACCGTGCAGCGCTCCTCCTCCGCCACGGCCCCCGGCCCGCCCGGGCGCCTGCGGGCACAGCTGGGTCAGCCCGCGCCCCGCCCGCCGCACGTGACCCCACCGCCCGGCCCCTCCCGGGCCGCTCACCACCCGCCGTCGCCCTCCGCCCCGGAGCCGGGTAGAGCCACAGCCG 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GGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCATGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTACTCACCGACAGAAGCCTCAGTCCTTCCCAGTCCCAAGAAGCACCCACCTGCGATTCCAAAGCTGTAAGCTGGAGCGGTTCCCAGCAGGCCAAATGGGGGTGGGGAGTAGTGCCGAAAGAGAGAGGCCCACTCGGTGAAGTTGTTGTCCCCGAAGAAGTACAGGGTGTCTGCCAACAGAGACGGCGGGGACAGGGATCCTGGCACCTGGAGACTCCAAGCGTCCCCACCCCCTACCGCCGCCTAGGGCTGCCTCACCATTGCCCAGGGAGGTGGGGTCCTGGGGGTGCAGCAGCTGCTCCACATACTCCTGGAAGGGCAAGTCCACTGCAGGAAAGAGACGGGTCAGGACCGTCTGGTCCAGCCGCCCCGGTGTTGGCAAATGGGCGGGCCCCAGGGGTGAGGCCGCGTACCTTTGTGGTAGGAGTAGGTGTTGGCGGTGCTCAGCCGGACCACTCTGTCCCCAAACGAAGCCAGCAACCTGTCGCGGGAGCACAGGGCCCGGAACCTCTGCGGGGGCGGGGAGGGGACTTAGTGGCCGGGCCCAGCACGGGCGAGAGTGGCCGGGGACGGACGGGCACGCGCTCACCGAGTTGTCCGTGAGTCCCTGCAGGATGACGGGCCTGACGAAGGCGTACCTGGAAAGAAGGGCAGAGTCGCGGCCAGGCCGGACCGCCAGCCTCGCCGCCCCAGCCCCACGCGTGCGCGCGAGGTCAGGGGAAGGCGGCCTTGGGCGGTCGGGGCAGACGGGCCGGTGAACAGGACGCGACCTCCGCGATCAGGGGCGCACGTACTGCTGCACGAACTCCGCGTAGGTGAGGTCGGCCCGACGCTCCACCGTGCAGCGCTCCTCCTCCGCCACGGCCCCCGGCCCGCCCGGGCGCCTGCGGGCACAGCTGGGTCAGCCCGCGCCCCGCCCGCCGCACGTGACCCCACCGCCCGGCCCCTCCCGGGCCGCTCACCACCCGCCGTCGCCCTCCGCCCCGGAGCCGGGTAGAGCCACAGCCG 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Task1_train_22022 | Here is a variant affecting JMJD8, STUB1 (jumonji domain containing 8| STIP1 homology and U-box containing protein 1) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive spinocerebellar ataxia 16 | GGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTACTCACCGACAGAAGCCTCAGTCCTTCCCAGTCCCAAGAAGCACCCACCTGCGATTCCAAAGCTGTAAGCTGGAGCGGTTCCCAGCAGGCCAAATGGGGGTGGGGAGTAGTGCCGAAAGAGAGAGGCCCACTCGGTGAAGTTGTTGTCCCCGAAGAAGTACAGGGTGTCTGCCAACAGAGACGGCGGGGACAGGGATCCTGGCACCTGGAGACTCCAAGCGTCCCCACCCCCTACCGCCGCCTAGGGCTGCCTCACCATTGCCCAGGGAGGTGGGGTCCTGGGGGTGCAGCAGCTGCTCCACATACTCCTGGAAGGGCAAGTCCACTGCAGGAAAGAGACGGGTCAGGACCGTCTGGTCCAGCCGCCCCGGTGTTGGCAAATGGGCGGGCCCCAGGGGTGAGGCCGCGTACCTTTGTGGTAGGAGTAGGTGTTGGCGGTGCTCAGCCGGACCACTCTGTCCCCAAACGAAGCCAGCAACCTGTCGCGGGAGCACAGGGCCCGGAACCTCTGCGGGGGCGGGGAGGGGACTTAGTGGCCGGGCCCAGCACGGGCGAGAGTGGCCGGGGACGGACGGGCACGCGCTCACCGAGTTGTCCGTGAGTCCCTGCAGGATGACGGGCCTGACGAAGGCGTACCTGGAAAGAAGGGCAGAGTCGCGGCCAGGCCGGACCGCCAGCCTCGCCGCCCCAGCCCCACGCGTGCGCGCGAGGTCAGGGGAAGGCGGCCTTGGGCGGTCGGGGCAGACGGGCCGGTGAACAGGACGCGACCTCCGCGATCAGGGGCGCACGTACTGCTGCACGAACTCCGCGTAGGTGAGGTCGGCCCGACGCTCCACCGTGCAGCGCTCCTCCTCCGCCACGGCCCCCGGCCCGCCCGGGCGCCTGCGGGCACAGCTGGGTCAGCCCGCGCCCCGCCCGCCGCACGTGACCCCACCGCCCGGCCCCTCCCGGGCCGCTCACCACCCGCCGTCGCCCTCCGCCCCGGAGCCGGGTAGAGCCACAGCCG 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GGCCGCCGCCGAGGCGGGTTCCGAAGAGACCTCAGCAGGGCAGGCCAGGGCCTACGCGAACGCCCACCCTTAAGAGCGCGGGGACAGGGAACTGGAGCGTTCCTCCCAGCCCCCGACGTCGCGGGCCCAGTGTCCCCGTCCAGGCTGGTTGGGCGCACGCGCGGCCCCACTCGCCCCCACGCGTGCGTCCCCGCTGGTCCCGCCCCCGGCCGGAAGTTCCGGCGGCGGAGCTGGGCCGGGCCCGAGCGGATCGCGGGCTCGGGCTGCGGGGCTCCGGCTGCGGGCGCTGGGCCGCGAGGCGCGGAGCTTGGGAGCGGAGCCCAGGCCGTGCCGCGCGGCGCCATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCCGAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGAAAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATCGTGAGTGCGCCCGCGCGGGGAGGGCGGCGGCGGTGGCACCGGGGAGGGCCGGGCCCGGGCCCGGCCGGCCCCACCGAGGGTCTGGCTCCTCTTCGGGGCGTGTCCTCGGCTCCCAAAGCCCAGCCGTGGTTCTCGAGCCCAGCGCCGGGTGCCGGAGAACGAGGGTGCGATGCTGGATGGAGGCCGGCCGGGTGGGGGGAGGGCAGGGGCCCTCGACCCTTGAGGACCCCAGGTCCTAAGCCCGGACTCTCCAAAGATTTGGAAAACTTTACAAAACCAAGTGGAATCAAGCGGATAGGCTCAGCCAGTACTCCACTGTGCACAGATCCTTGGACCCAGGGGCTTTGACAACTGAGAAACCTAGTTTCTTGATTCTAGCCAGAGCGCAGAAGCTGGGACGGGCCGTGGGTCAGAGTGGGCACGCTGAGCCTACGCCCTCATGCGGCTGGCCCGGCCTTGGTCCCTAGACCCGGAACCCGCTGGTGGCCGTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTGGGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAGGTTGGCTGACAAGCTGCCCGGTTGTGGGGCCTCTGGGGCCAGGCGGGTGGACTGGCCAGAGAGTGACGTGAAGCCCCCGTTCCCCAGCTTACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGAATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAGGTGGGACCCTCACCCCAGGCCGCCCTGTCTTGGGATAATTCTGAATCACCGACTCCCGACACAAGCGTTTATCGAAGGCTTTACTGGCAAGCAGGAAATGTGGGGAAGTGTGGATGTTAGCTCTGAGATTGGGGTGTGGTCAGACATCTGGCCAGGTCCATCTCTGACCGGCTCCTGGTCAACCCCCAGGGAGCTGGAAGAGTGCCAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATTGAGGCCAAGCACGTGAGGGTGCCCCCCACCCACATGTGGGTCTGTGTGTGTGCACGTGGCGTGGGAGCATCCCCGCCTTGTGTTGGGTCTGTGCCCCATGGAGGAGGGAGGTGGGGTGTCTCCCCCAAGCACAGCACTCAACTCTTCACAGGACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAGAAGAGGAAGGTGAGTGTGTGTCGCTTGCTGCCGATGGCTGGCAGGTGCTCGTGCAGTGCCCCTTTTCAGCCTCTGACCGTGTGCCCCTGTGCCACAGAAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATGCGGGAGCCGTGCATCATGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCACCTGCAGGTGAGGCCTGCGGCTGGGGGAGCAGGGCCAGTGGCATGGTCCTGGGCCCCATGACTGCCCTCTGCCCTTCTTGTCACTGCAGCGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTCATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTGGAGGACTACTGAGGTTCCCTGCCCTACCTGGCGTCCTGGTCCAGGGGAGCCCTGGGCAGAAGCCCCCGGCCCCTATACATAGTTTATGTTCCTGGCCACCCCGACCGCTTCCCCCAAGTTCTGCTGTTGGACTCTGGACTGTTTCCCCTCTCAGCATCGCTTTTGCTGGGCCGTGATCGTCCCCCTTTGTGGGCTGGAAAAGCAGGTGAGGGTGGGCTGGGCTGAGGCCATTGCCGCCACTATCTGTGTAATAAAATCCGTGAGCACGAGGTGGGACGTGCTGGTGTGTGACCGGCAGTCCTGCCAGCTGTTTTGGCTAGCCGAGGAAGGTGGAGATGAAGACGCTGGTGTCAAGGTTGAGCGTAGCATGCCACCAGCGGTCGGGGAAGTACAGCACCTGGTGGAGGAAGGGGGTGCAGCAGAGATTAGCTGCGGGCCTCTAGCCTGGCCTGGCCCTCTCCTGCCAGCCACTGACCTCACCAGCCCGGATGGTACACTCCAGGGGCCGTGCAGACGGTGGCAGGGCTGGGTATGTGTCCCGGAGCCAGGCCAGCGTGGTCTTGTTGGGGTGGAACTCTGGCGTCTTCTCAGGTGGGTAAAGGAACCAGCGCTGGGGGCATGAGCAGCAGTGTCACCCTTGCCCGTTTTGGTCAGCGAGTCCCAAGCCTCAACCCCCACCCCGTGCTGACCTTACGACCGTAGATCACTTCTGAGTACCCGGGTCCATGCCAGTGGAAGGGCACCCCCGAGCCAGCTCCTGTGGGGTTATGAGCACCTGGTGACCAACCCATTTTGTACTCACCGACAGAAGCCTCAGTCCTTCCCAGTCCCAAGAAGCACCCACCTGCGATTCCAAAGCTGTAAGCTGGAGCGGTTCCCAGCAGGCCAAATGGGGGTGGGGAGTAGTGCCGAAAGAGAGAGGCCCACTCGGTGAAGTTGTTGTCCCCGAAGAAGTACAGGGTGTCTGCCAACAGAGACGGCGGGGACAGGGATCCTGGCACCTGGAGACTCCAAGCGTCCCCACCCCCTACCGCCGCCTAGGGCTGCCTCACCATTGCCCAGGGAGGTGGGGTCCTGGGGGTGCAGCAGCTGCTCCACATACTCCTGGAAGGGCAAGTCCACTGCAGGAAAGAGACGGGTCAGGACCGTCTGGTCCAGCCGCCCCGGTGTTGGCAAATGGGCGGGCCCCAGGGGTGAGGCCGCGTACCTTTGTGGTAGGAGTAGGTGTTGGCGGTGCTCAGCCGGACCACTCTGTCCCCAAACGAAGCCAGCAACCTGTCGCGGGAGCACAGGGCCCGGAACCTCTGCGGGGGCGGGGAGGGGACTTAGTGGCCGGGCCCAGCACGGGCGAGAGTGGCCGGGGACGGACGGGCACGCGCTCACCGAGTTGTCCGTGAGTCCCTGCAGGATGACGGGCCTGACGAAGGCGTACCTGGAAAGAAGGGCAGAGTCGCGGCCAGGCCGGACCGCCAGCCTCGCCGCCCCAGCCCCACGCGTGCGCGCGAGGTCAGGGGAAGGCGGCCTTGGGCGGTCGGGGCAGACGGGCCGGTGAACAGGACGCGACCTCCGCGATCAGGGGCGCACGTACTGCTGCACGAACTCCGCGTAGGTGAGGTCGGCCCGACGCTCCACCGTGCAGCGCTCCTCCTCCGCCACGGCCCCCGGCCCGCCCGGGCGCCTGCGGGCACAGCTGGGTCAGCCCGCGCCCCGCCCGCCGCACGTGACCCCACCGCCCGGCCCCTCCCGGGCCGCTCACCACCCGCCGTCGCCCTCCGCCCCGGAGCCGGGTAGAGCCACAGCCG 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Task1_train_22023 | Consider a variant on Chromosome 16 in gene CACNA1H (calcium voltage-gated channel subunit alpha1 H). Determine its clinical classification and disease relevance. | Pathogenic; not provided | CTGATGGGGGGCCGGGCAGGCAGGCGCAGGCTCTGAGAAGCCGCCGCCTCATCCCACAGAGCTGCTGCCTCCGCCTGCATAAAGTGCTGGAGCCCTACAAGCCCCAGTGGTGCCGGAGCCGCGAGGCCTGGGCCCTCTACCTCTTCTCCCCACAGAACCGGTGAGGCGGCCGGGTCAGGAGGCTGCATGGCTAGTTCCACCCCACGGGACCCCCGCCCCCAGGTCCCTCCTGGGTGGGGCTAGCACATGGTGGATATTTCCGAGTGGGCACCCCTTCTCACACCGCAGGGACCGGGGCTGAAGTGGAGGCGTGGCCAGGGCTGTCCTGCAACCCCCATCCACTCTGCCATCCACGCCGCCCCGCCCCACCTCTCACCCGCCCCCGCCCACCCAGGTTCCGCGTCTCCTGCCAGAAGGTCATCACACACAAGATGTTTGATCACGTGGTCCTCGTCTTCATCTTCCTCAACTGCGTCACCATCGCCCTGGAGAGGCCTGACATTGATCCCGGCAGCACCGTGAGTCAGCCAACCCCATCGTCCCGGGCCACCACGACCCCCAGGGAGGGGTGGAGTGGACACAGCCCCCCACCGTCCTCTCCCGGCAGGAGCGGGTCTTCCTCAGCGTCTCCAATTACATCTTCACGGCCATCTTCGTGGCGGAGATGATGGTGAAGGTACCGCGGGGCCCGGGGACTGCCCTTGTTCCCAGGTCCCCGTTCTGCCCTCATCCCCACCCCCACCCAGCAGCGCGCCAGCTCCCCAGACCCCCCACGCCTGAGCCTGAGCTCAGTGCCATTGGCCCTCCGCAGGTGGTGGCCCTGGGGCTGCTGTCCGGCGAGCACGCCTACCTGCAGAGCAGCTGGAACCTGCTGGATGGGCTGCTGGTGCTGGTGTCCCTGGTGGACATTGTCGTGGCCATGGCCTCGGCTGGTGGCGCCAAGATCCTGGGTGTTCTGCGCGTGCTGCGTCTGCTGCGGACCCTGCGGCCTCTGAGGTGGGGGGCTCCCCGTGGGCTCCCGGGGCAACCTGGAAGCACAGTCCCCTGACGCCACTGCCCATTACTCCTCCCGCAGTCCTGGGCTGTTCGCAGGCCGCCCACTCGGCCCCACCTTGGGACCTTTGCTGAGCTCTGCCGGCGCCTGGCAGCTGCTGCCATAGATGACTGCAGTGTATCCTTCACTCCCCTCCAGGGTCATCAGCCGGGCCCCGGGCCTCAAGCTGGTGGTGGAGACGCTGATATCATCACTCAGGCCCATTGGGAACATCGTCCTCATCTGCTGCGCCTTCTTCATCATTTTTGGCATTTTGGGTGTGCAGGTGTGTGGCCCCCACGTGCCCGGGGGTCTGCCCCGTCGCAGACAGGGTCTGCCTTCCCAGCGTGGCTCCCAGCAGCGCCGCTGCGGGACGGGGAGGGACAGCTCGGGCCTCACTCGCGCCCCAGGAAGTCCGGTGTGGGGTGGGGCACAGGCCAGGCCCTCCGCGGTGACCGTCGCACCCCGTCAGCTCTTCAAAGGGAAGTTCTACTACTGCGAGGGCCCCGACACCAGGAACATCTCCACCAAGGCACAGTGCCGGGCCGCCCACTACCGCTGGGTGCGACGCAAGTACAACTTCGACAACCTGGGCCAGGTGGGCTGGGCGGCCGGGCGGGAGCTGGGGGTCTCCAGGACACCCTGGAGCGAGAGGGCCGGCGACCCCAGCTCTAACCCTCGCCAGTGACCCTGGCTCTGGCCCTCAGGCCCTGATGTCGCTGTTCGTGCTGTCATCCAAGGATGGATGGGTGAACATCATGTACGACGGGCTGGATGCCGTGGGTGTCGACCAGCAGGTGCGCACAGGCGGGTCGAGCTGGGTCACCTCAGGGTCTCCCGCGAGCGGCTGCCTTGGCCTCTGGGGACTCGGGGGGCCATCCTGGGTAGGGCCCCTGGCGGGGCAGGCGGGCGGGGACCCACCGCCTCTGTGCCACAGCCTGTGCAGAACCACAACCCCTGGATGCTGCTGTACTTCATCTCCTTCCTGCTCATCGTCAGCTTCTTCGTGCTCAACATGTTCGTGGGCGTCGTGGTCGAGAACTTCCACAAGTGCCGGCAGCACCAGGAGGCGGAGGAGGCGCGGCGGCGAGAGGAGAAGCGGCTGCGGCGCCTAGAGAGGAGGCGCAGGAGTAAGGCGCTCCCGGTGGCGGTGGCGGTGGCGGGTCGGTACCTGTGTGCCCACCGGGCCCTCCAGCCCCTCCACTCCCGCCCCGGCCTCCCCGAATGGCTCTGCACGCCACCCGCCTTGCCTGGGCCTGCATGGGGGCTGGGCCTTGGAGGGGCTGGCCCGAGAGGGCCGTCGGGGAGCCCGCCATGGCAGGAGAGGAGGAGACACCCCCAACCCCATCCCCAGCGCCCAAGAGGCAGGTTCCCCACCGAGTCCTCACTCCACGAGGAGCCAGCACAGCCCCCGAGACACGGGGGCTGAGGGAGAGCAGGGAGGGCTCCAGGCCCGAGTGCGCCACGCCCTCGGCCCTCAGACCATCTCCTTGTCTTTCCAGGCACTTTCCCCAGCCCAGGTACCGGCCCTGTCCCGCATGCCTCAGGCCCCGCTTCTGCGGCCGCTGCTCGGGGAAGGGCGGGCATCCCAGGCCTGCTGGGGTCCTCCGCAGGGTGGGCACAGGCAGCCGGAGGTGCTGGGCGTGTGGCGTGAGGAGGGGCTGCGCTCGCCCGCCAGTGTCCGGGCTGCTGTGTGCGTGCACGCGTGCGGCTCTGCCCGGCTCACAGTCTGCCTGCATCTCCGCCGTGCGCCGGGACACCCAGAGCAACGAGGGGCCGCCCACACCCCTGCAGGCTTGTGGCTGTCCTGTGTCCTTGCTGGTCCAGCCTGACTGGCCGCGGGCCCTCTCCGGCTGCCCGGGCTGCGCTGAGTGCTTCAGTGACTGCATGCCGGCCGCAGAGCATGAGGGTCGGGTGGCGGGTGGATCCTGCTCTTCCAGGCCCTGGGCCAGCAGTCCCCACCCGTGTGTGGTTCTGTGGCCGAGGCAGGTCCTGGGGTGTGGTGGCAGCTCACGCCTTCACCCGCGGGAGCTCCTCCTCGTACGTGGAGGGGCCCTGGAGGCTGAGCATTCAGTGCACACCTGCCTGGGGGACACACGCAGATGGCGGGCGCCGACTTCAGATGGTCTGGAGTCCGGCAGACCCTAGACCACAGCCCATGGCCCCTTGGAGGATGGGGAGGGGAGGTACTTGGGCTGGTGGCCAGAGGAGGGCAGGTTACACTCTCGTCTCTGCTCCAGTGAGGCCTTGTGGGCCCAGACCCAGAGATGGAGTGGGGCTGCCCTGCCCAGCCCTTCATCAGTGTCTCAGCCTGAGGCCAGGCAAGGAGTAGACCACAGAGGCCCAGCCACGTGCTGCGCCAACTTGGGAGCTCCAGGGGGGCGGGCCCTGCCAGGCACCCAGTTGGGATGTGGGGGAGCCATCTCAGCTTCATACCCACTCCTGGGGGCTGCCTGGCGCAACCGCGTTGCTGAGGAGGAGGTTAGTCAGTGGCCTGCCCCGAAGGCCTGCTCCAGCCCAGGCCTCCTGGCCTAGCCAGCTCCCCAGGGAGCTGCATCTCACCTAGAACAGGGTCCTTTTCCTGAGAGAGTCCCCCTTCTCCAGTCTTATGTGAGCCCTGCCATGAGGCAGGGCCAGCCCCATCTTCACATGAGCCGTGGGCCCCCAACTTCTACCCTACACTTGGCCACCTAGGAGGAGAATGGAGTCTGCAGGAGCCAGGAGCGCCGGGCGGCCCTCCTGCCCGGCGCTCATGGCCGCCCTCCCCGCAGAGGCCCAGCGCCGGCCCTACTATGCCGACTACTCGCCCACGCGCCGCTCCATTCACTCGCTGTGCACCAGCCACTATCTCGACCTCTTCATCACCTTCATCATCTGTGTCAACGTCATCACCATGTCCATGGAGCACTATAACCAACCCAAGGTGGGTGCGAGGGGGCCGCGAGGGGCCCAGGGGCTGGGGCACCCCCAGTGGGGCAGCCAACACAGTGGGCACAACCCTGGACCGGCGCTCCGCTGAGCCCTCGCTGGGGTTTGCGTGGGGATGTGGGGTTTTGTGTGAAC 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CTGATGGGGGGCCGGGCAGGCAGGCGCAGGCTCTGAGAAGCCGCCGCCTCATCCCACAGAGCTGCTGCCTCCGCCTGCATAAAGTGCTGGAGCCCTACAAGCCCCAGTGGTGCCGGAGCCGCGAGGCCTGGGCCCTCTACCTCTTCTCCCCACAGAACCGGTGAGGCGGCCGGGTCAGGAGGCTGCATGGCTAGTTCCACCCCACGGGACCCCCGCCCCCAGGTCCCTCCTGGGTGGGGCTAGCACATGGTGGATATTTCCGAGTGGGCACCCCTTCTCACACCGCAGGGACCGGGGCTGAAGTGGAGGCGTGGCCAGGGCTGTCCTGCAACCCCCATCCACTCTGCCATCCACGCCGCCCCGCCCCACCTCTCACCCGCCCCCGCCCACCCAGGTTCCGCGTCTCCTGCCAGAAGGTCATCACACACAAGATGTTTGATCACGTGGTCCTCGTCTTCATCTTCCTCAACTGCGTCACCATCGCCCTGGAGAGGCCTGACATTGATCCCGGCAGCACCGTGAGTCAGCCAACCCCATCGTCCCGGGCCACCACGACCCCCAGGGAGGGGTGGAGTGGACACAGCCCCCCACCGTCCTCTCCCGGCAGGAGCGGGTCTTCCTCAGCGTCTCCAATTACATCTTCACGGCCATCTTCGTGGCGGAGATGATGGTGAAGGTACCGCGGGGCCCGGGGACTGCCCTTGTTCCCAGGTCCCCGTTCTGCCCTCATCCCCACCCCCACCCAGCAGCGCGCCAGCTCCCCAGACCCCCCACGCCTGAGCCTGAGCTCAGTGCCATTGGCCCTCCGCAGGTGGTGGCCCTGGGGCTGCTGTCCGGCGAGCACGCCTACCTGCAGAGCAGCTGGAACCTGCTGGATGGGCTGCTGGTGCTGGTGTCCCTGGTGGACATTGTCGTGGCCATGGCCTCGGCTGGTGGCGCCAAGATCCTGGGTGTTCTGCGCGTGCTGCGTCTGCTGCGGACCCTGCGGCCTCTGAGGTGGGGGGCTCCCCGTGGGCTCCCGGGGCAACCTGGAAGCACAGTCCCCTGACGCCACTGCCCATTACTCCTCCCGCAGTCCTGGGCTGTTCGCAGGCCGCCCACTCGGCCCCACCTTGGGACCTTTGCTGAGCTCTGCCGGCGCCTGGCAGCTGCTGCCATAGATGACTGCAGTGTATCCTTCACTCCCCTCCAGGGTCATCAGCCGGGCCCCGGGCCTCAAGCTGGTGGTGGAGACGCTGATATCATCACTCAGGCCCATTGGGAACATCGTCCTCATCTGCTGCGCCTTCTTCATCATTTTTGGCATTTTGGGTGTGCAGGTGTGTGGCCCCCACGTGCCCGGGGGTCTGCCCCGTCGCAGACAGGGTCTGCCTTCCCAGCGTGGCTCCCAGCAGCGCCGCTGCGGGACGGGGAGGGACAGCTCGGGCCTCACTCGCGCCCCAGGAAGTCCGGTGTGGGGTGGGGCACAGGCCAGGCCCTCCGCGGTGACCGTCGCACCCCGTCAGCTCTTCAAAGGGAAGTTCTACTACTGCGAGGGCCCCGACACCAGGAACATCTCCACCAAGGCACAGTGCCGGGCCGCCCACTACCGCTGGGTGCGACGCAAGTACAACTTCGACAACCTGGGCCAGGTGGGCTGGGCGGCCGGGCGGGAGCTGGGGGTCTCCAGGACACCCTGGAGCGAGAGGGCCGGCGACCCCAGCTCTAACCCTCGCCAGTGACCCTGGCTCTGGCCCTCAGGCCCTGATGTCGCTGTTCGTGCTGTCATCCAAGGATGGATGGGTGAACATCATGTACGACGGGCTGGATGCCGTGGGTGTCGACCAGCAGGTGCGCACAGGCGGGTCGAGCTGGGTCACCTCAGGGTCTCCCGCGAGCGGCTGCCTTGGCCTCTGGGGACTCGGGGGGCCATCCTGGGTAGGGCCCCTGGCGGGGCAGGCGGGCGGGGACCCACCGCCTCTGTGCCACAGCCTGTGCAGAACCACAACCCCTGGATGCTGCTGTACTTCATCTCCTTCCTGCTCATCGTCAGCTTCTTCGTGCTCAACGTGTTCGTGGGCGTCGTGGTCGAGAACTTCCACAAGTGCCGGCAGCACCAGGAGGCGGAGGAGGCGCGGCGGCGAGAGGAGAAGCGGCTGCGGCGCCTAGAGAGGAGGCGCAGGAGTAAGGCGCTCCCGGTGGCGGTGGCGGTGGCGGGTCGGTACCTGTGTGCCCACCGGGCCCTCCAGCCCCTCCACTCCCGCCCCGGCCTCCCCGAATGGCTCTGCACGCCACCCGCCTTGCCTGGGCCTGCATGGGGGCTGGGCCTTGGAGGGGCTGGCCCGAGAGGGCCGTCGGGGAGCCCGCCATGGCAGGAGAGGAGGAGACACCCCCAACCCCATCCCCAGCGCCCAAGAGGCAGGTTCCCCACCGAGTCCTCACTCCACGAGGAGCCAGCACAGCCCCCGAGACACGGGGGCTGAGGGAGAGCAGGGAGGGCTCCAGGCCCGAGTGCGCCACGCCCTCGGCCCTCAGACCATCTCCTTGTCTTTCCAGGCACTTTCCCCAGCCCAGGTACCGGCCCTGTCCCGCATGCCTCAGGCCCCGCTTCTGCGGCCGCTGCTCGGGGAAGGGCGGGCATCCCAGGCCTGCTGGGGTCCTCCGCAGGGTGGGCACAGGCAGCCGGAGGTGCTGGGCGTGTGGCGTGAGGAGGGGCTGCGCTCGCCCGCCAGTGTCCGGGCTGCTGTGTGCGTGCACGCGTGCGGCTCTGCCCGGCTCACAGTCTGCCTGCATCTCCGCCGTGCGCCGGGACACCCAGAGCAACGAGGGGCCGCCCACACCCCTGCAGGCTTGTGGCTGTCCTGTGTCCTTGCTGGTCCAGCCTGACTGGCCGCGGGCCCTCTCCGGCTGCCCGGGCTGCGCTGAGTGCTTCAGTGACTGCATGCCGGCCGCAGAGCATGAGGGTCGGGTGGCGGGTGGATCCTGCTCTTCCAGGCCCTGGGCCAGCAGTCCCCACCCGTGTGTGGTTCTGTGGCCGAGGCAGGTCCTGGGGTGTGGTGGCAGCTCACGCCTTCACCCGCGGGAGCTCCTCCTCGTACGTGGAGGGGCCCTGGAGGCTGAGCATTCAGTGCACACCTGCCTGGGGGACACACGCAGATGGCGGGCGCCGACTTCAGATGGTCTGGAGTCCGGCAGACCCTAGACCACAGCCCATGGCCCCTTGGAGGATGGGGAGGGGAGGTACTTGGGCTGGTGGCCAGAGGAGGGCAGGTTACACTCTCGTCTCTGCTCCAGTGAGGCCTTGTGGGCCCAGACCCAGAGATGGAGTGGGGCTGCCCTGCCCAGCCCTTCATCAGTGTCTCAGCCTGAGGCCAGGCAAGGAGTAGACCACAGAGGCCCAGCCACGTGCTGCGCCAACTTGGGAGCTCCAGGGGGGCGGGCCCTGCCAGGCACCCAGTTGGGATGTGGGGGAGCCATCTCAGCTTCATACCCACTCCTGGGGGCTGCCTGGCGCAACCGCGTTGCTGAGGAGGAGGTTAGTCAGTGGCCTGCCCCGAAGGCCTGCTCCAGCCCAGGCCTCCTGGCCTAGCCAGCTCCCCAGGGAGCTGCATCTCACCTAGAACAGGGTCCTTTTCCTGAGAGAGTCCCCCTTCTCCAGTCTTATGTGAGCCCTGCCATGAGGCAGGGCCAGCCCCATCTTCACATGAGCCGTGGGCCCCCAACTTCTACCCTACACTTGGCCACCTAGGAGGAGAATGGAGTCTGCAGGAGCCAGGAGCGCCGGGCGGCCCTCCTGCCCGGCGCTCATGGCCGCCCTCCCCGCAGAGGCCCAGCGCCGGCCCTACTATGCCGACTACTCGCCCACGCGCCGCTCCATTCACTCGCTGTGCACCAGCCACTATCTCGACCTCTTCATCACCTTCATCATCTGTGTCAACGTCATCACCATGTCCATGGAGCACTATAACCAACCCAAGGTGGGTGCGAGGGGGCCGCGAGGGGCCCAGGGGCTGGGGCACCCCCAGTGGGGCAGCCAACACAGTGGGCACAACCCTGGACCGGCGCTCCGCTGAGCCCTCGCTGGGGTTTGCGTGGGGATGTGGGGTTTTGTGTGAAC 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Task1_train_22024 | The gene CLCN7 (chloride voltage-gated channel 7), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | CAGGTCCTCAGTACACAACCACCACGAGGGAAACCCAGACCTAGGTTTCCGGCGCCGACTCTGAGGCCCGGGAGTTTTCTTCTTGCGTCACCCCAGCGTGGGCACCCCGGCCCGCCCCCCTCCACCTGGAGCGCCTCTGCCTTGCCCCCAGACCCACCAGCCAGGAGCCAGAGGAGGGAGGCTGAGGGGCGGGGACGAGGAAGAGGATGTGGCTGGTGCCCTGGGTGGCCGCAGCCGCTGTCTTTCACGCCTTTCTCACTCCACACGGTGCCCCGACCCCAGGGTCCCGAAAGTCCCAGGCTGTTGGACGTGGTCTGGGTGGGGTGGGAGGGACGACGCTGGCAAAGGCGGGCTGAGAGGATTTCTTTATTTCGCGTTCAGACCCAACACACTCGGACACCTTGGGGCCCTGTGAGGGCTAAGCAGGGTGGTGGCGTCAGCTCCCGGGGAGGCCCCACTCCCTGGGGAGGAAATACACGGCAGGGGGCCGCACCCAGCCCCCCACGGAGGGACCCGTGTTGCTCTAACAGGGACACTGAAGTTGCCTCTGCCGCCCCGTGAGGGGCCTGTGGCGGCCCCAGACCCAGCCCAGCCAGGCCAGAGGAGCCTCCCAGGGGCCCTCAGGTGGTGAGGTGGGGGCTTCCCGGCCCCGGTGCCCACCGGCCCTTCTAGCTGCCTGTGCTGGGCCAGGTGTCCTCTGAGGCCGGCAGGAGTCTGGCCCCCGCTGCACCTGCGCTTGGTGGCTGGCAGGGGCGGGGTAGGGAGGTCACCCTCGAGGCCGGGGTCCCCATGTGCTAGGGGAAGACCTGCCTTCCCAGCCAGTGTCCACAGGGCAGCAATTCCACGCTCTGAGGCTCAGGGACCAAGGCAGGGCTGGGTGTGGGGCCCAGACTCCAAGCTCTGGGGGTTGGGGGACCAAGGCAGGGCTGGGCATGGGGCTCAGGGCCTTGGAGGTTTTTCTCAGCTCTCAACATCACAGCACAGGGCCCGTGAGTCACCCCAGTCCTCTGGGCCTGTGTACCCAAGCCGGATGCAGGCCGGGGAGTGCACGTGGGGCTCCTCTGTGGCGCCAGTGTGAAGCTGCTCTCCGGGGCGGTCGCAGCCTCCAAACCCTGGTGCTACGAGTCCGTGCCTCAGGCCCAGGGACCACAGGCCGTCTGCTCATGGCTGAAAATGAGGCCAAGCAGCTCCCAAGTCTCGAAGACTCCACTGGTGTGGAGGCAGAGGGGCCCTTCCAGGGCAGGGCAGCCCTCGGGGCAGCAGCAGGGGCAAGGGCTCTGTCTCACGCACACGGGCACAGGCACGCAGGTGCCGGCCCTGCCGCTGGCTCCCAAGAGGCCGATAGCCCGGTAGGGAGGTCACACACACACAGCTGATCCCTGGAGGTAAAGAAACCTAGACGAGGAGAGTGGAGGCTGGGCCTGCGCAAGGAGGCGCCAAGGGGGGAGACCACTGCCCACAACAGGGTCAGTCCCGCGAGAGGGTCAGTTCCGCGCCTGCCGCCTGCCCGCCCAGCTGCAGGGTGCTCGCCATTGCCACTGCTGGGGAGCATGGTTTGGGCCGAGAAACCAGTGACTCCGGGAGGAAATGCAGAAGGGCCGGGGTGCCAGCGCCAGTGCCCATTATGGGCAGGGCTGGGCCTCACGTCTGGGCCAGCGAGAGCTCCTCCAAGCCTCTCTTTCCCAGGCGGTACCTGGCGAGGTCCTTCCTGGTCACCAACCCGACAACCTGCAGGACAAGTCCAGGCCACAGTGACACACGGGTCGGCTCCCGCCTGCCTGTGGAGCTCCCTGCCTTGTGTGTGGCTGGGGCAGCACAGGCAGGGGGCCCTGGGGGCTTCAGCACAGCCCCCGAGCTGAGCACGGGGCTGGGGAGGGGTGCAGCCATGGGGCATGGGCCGACTCGGTGCTGGGTCCTGTGCTTCCGTGTCCCCTGCCGGGAGCTGAGAGTAAGCACGGGCAGGAGGCAGAGGGGAGCCCTGCACGGCATGCCTGCACCCCCACCGCCCCCGCTCACCTGATTGCGGTTGTCCACCACCACCAGGTGCCGCAGGCCCAGGGCCCGGAACAGCTTGAACACCCGTGGGAGCGACGCCTCCTGCAGCAGGGGCACAGCTGTCAGTGCCCGCCCACACAGCAGAGGCAGGCGGGACCCTCACCCAAGCTGGCTCCCTGCACCCCCCACCACGGCGTCCAGGCACGTCCTGAGCCCCCACGCCCGTCTGGCCAGCCCCCTCAGCCCCTTGACTTCAGCTCTAAAGCCTGCCAGGCCCTTCACAGGAGACAGAGTCACCGAGTCCTCTCCGCTGTGGCCCCCCCCGGCTGCCCCTCCCCGAGGCTCTGGACCCCACCCCCTGCTGTTCAGTCCCAGGCCCCACGCCCATGCCCATGCCCTGCACATGCCTGGGGCACCGTGTAGGGGGAGGGGTTCATGAACTCGGAGAGGTCCATGGTGCACTCCCGCTCGTCCTGGGACACGTGGATGGACTGGATGGGTGGGAAGCGCGGGTAGGCGTCTCGGAAGTCCTTCAGCCTCAGGCGCCGCTGTACCAGGCCCAGGTTGGACCGCTCCACAAACACCTGCGGGCGGCAGAGCCCTGTGTCAGGCACCCAGGCAGCACCCCCGGGGCCCCCACCCGCCCAATGGCCCGGAGCCTGGCACGCACCTTGTGCTTTAGGAGAACGATGAGCTGGGAGCGCAGGATCAGGCCCTGGAGCCGGGCAGGCTGCAAGACAGGCCCGCGGTCAGGGCCACGGGCCCGAGGGTGGGAGGCTGCGCTGGAATGCTGTGTCGGGCCCCGCTCTGACCCTGTTCCGGCCAGATTTCCCATCTGGGCATGGGCCCCGTGTCGGTGGCTACCTGCTCACACCAGCCTCGCCATGGCATCCCACACGCACAATGCCACGGGACCCAAGGATCGGCGACAGGGTAGCGGGGCCTGACCGCGCACAGCAGAGAGCCAAGGGCCCAGGGATGGTGGCTTTGCTGCAGGGCAGATGCAGCCCCACTGGGTCCCAATAAAAACCAACCTCCAAACACCCAGTGTCCACGTCTAAAAGACACACAGCAGTGGCCGAGCTGTGTGTCCTGTCAGGGCCTCCTGACAAAGTCACGGCCCCCAGTGCCACGGCTCTCAGCCCAGCCTGGGTGCCAACCCCAAGACCCTGCCAGGCCGCAGCCCCCCCCACCAGCCTCAGCGTCCACACAGCCCTCCATGGCTGCACACTCAGCTTCCGGCACTCCTGGAACTGCCAGTGCACCCAAACGTGCAGCTTCCCCATCCTGCAAACCTTGCCGTGTGCTTCCCACCAATGGACTCGACAGAGGTCACATAGGCAGGACCCTGTCTATGGGGTGCCCGGTACCTGGGTGTCATCGGCATGCTCCACCACGGGGAAGCCGTTGTGATTGGACGCCGTGTCGCTCAGCACGTCCACAATGACGCCGACCTTCTCACGCCGCCTCAGGCAGGTCACTGGTGTGCTCATCACCTCCCTGCCGGAGGAGCCCGGCCACACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCGAGCCTACCCCTGGGAGCCCAGAGGCCGCCCCCAGAAACCCTGAGCCTACCCCCCGGGACCGGCTGTTTGGAGGCTCACAGGGGCCCCTCCCCTATGGCAGCACCCACGCTCTCAGGGTGAGGCTTCGAGGCCCTGGCGCACCTCAATGAAGACGTCGCCCACGATCTTGGCGGTCATGAGCACCAGCATGATGGGGAAGCCGTAGGTCACGTTGCTGGTGGCCTCCATCATGATGACGGTCAGGCTCAGTGTCATCCGCAC 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CAGGTCCTCAGTACACAACCACCACGAGGGAAACCCAGACCTAGGTTTCCGGCGCCGACTCTGAGGCCCGGGAGTTTTCTTCTTGCGTCACCCCAGCGTGGGCACCCCGGCCCGCCCCCCTCCACCTGGAGCGCCTCTGCCTTGCCCCCAGACCCACCAGCCAGGAGCCAGAGGAGGGAGGCTGAGGGGCGGGGACGAGGAAGAGGATGTGGCTGGTGCCCTGGGTGGCCGCAGCCGCTGTCTTTCACGCCTTTCTCACTCCACACGGTGCCCCGACCCCAGGGTCCCGAAAGTCCCAGGCTGTTGGACGTGGTCTGGGTGGGGTGGGAGGGACGACGCTGGCAAAGGCGGGCTGAGAGGATTTCTTTATTTCGCGTTCAGACCCAACACACTCGGACACCTTGGGGCCCTGTGAGGGCTAAGCAGGGTGGTGGCGTCAGCTCCCGGGGAGGCCCCACTCCCTGGGGAGGAAATACACGGCAGGGGGCCGCACCCAGCCCCCCACGGAGGGACCCGTGTTGCTCTAACAGGGACACTGAAGTTGCCTCTGCCGCCCCGTGAGGGGCCTGTGGCGGCCCCAGACCCAGCCCAGCCAGGCCAGAGGAGCCTCCCAGGGGCCCTCAGGTGGTGAGGTGGGGGCTTCCCGGCCCCGGTGCCCACCGGCCCTTCTAGCTGCCTGTGCTGGGCCAGGTGTCCTCTGAGGCCGGCAGGAGTCTGGCCCCCGCTGCACCTGCGCTTGGTGGCTGGCAGGGGCGGGGTAGGGAGGTCACCCTCGAGGCCGGGGTCCCCATGTGCTAGGGGAAGACCTGCCTTCCCAGCCAGTGTCCACAGGGCAGCAATTCCACGCTCTGAGGCTCAGGGACCAAGGCAGGGCTGGGTGTGGGGCCCAGACTCCAAGCTCTGGGGGTTGGGGGACCAAGGCAGGGCTGGGCATGGGGCTCAGGGCCTTGGAGGTTTTTCTCAGCTCTCAACATCACAGCACAGGGCCCGTGAGTCACCCCAGTCCTCTGGGCCTGTGTACCCAAGCCGGATGCAGGCCGGGGAGTGCACGTGGGGCTCCTCTGTGGCGCCAGTGTGAAGCTGCTCTCCGGGGCGGTCGCAGCCTCCAAACCCTGGTGCTACGAGTCCGTGCCTCAGGCCCAGGGACCACAGGCCGTCTGCTCATGGCTGAAAATGAGGCCAAGCAGCTCCCAAGTCTCGAAGACTCCACTGGTGTGGAGGCAGAGGGGCCCTTCCAGGGCAGGGCAGCCCTCGGGGCAGCAGCAGGGGCAAGGGCTCTGTCTCACGCACACGGGCACAGGCACGCAGGTGCCGGCCCTGCCGCTGGCTCCCAAGAGGCCGATAGCCCGGTAGGGAGGTCACACACACACAGCTGATCCCTGGAGGTAAAGAAACCTAGACGAGGAGAGTGGAGGCTGGGCCTGCGCAAGGAGGCGCCAAGGGGGGAGACCACTGCCCACAACAGGGTCAGTCCCGCGAGAGGGTCAGTTCCGCGCCTGCCGCCTGCCCGCCCAGCTGCAGGGTGCTCGCCATTGCCACTGCTGGGGAGCATGGTTTGGGCCGAGAAACCAGTGACTCCGGGAGGAAATGCAGAAGGGCCGGGGTGCCAGCGCCAGTGCCCATTATGGGCAGGGCTGGGCCTCACGTCTGGGCCAGCGAGAGCTCCTCCAAGCCTCTCTTTCCCAGGCGGTACCTGGCGAGGTCCTTCCTGGTCACCAACCCGACAACCTGCAGGACAAGTCCAGGCCACAGTGACACACGGGTCGGCTCCCGCCTGCCTGTGGAGCTCCCTGCCTTGTGTGTGGCTGGGGCAGCACAGGCAGGGGGCCCTGGGGGCTTCAGCACAGCCCCCGAGCTGAGCACGGGGCTGGGGAGGGGTGCAGCCATGGGGCATGGGCCGACTCGGTGCTGGGTCCTGTGCTTCCGTGTCCCCTGCCGGGAGCTGAGAGTAAGCACGGGCAGGAGGCAGAGGGGAGCCCTGCACGGCATGCCTGCACCCCCACCGCCCCCGCTCACCTGATTGCGGTTGTCCACCACCACCAGGTGCCACAGGCCCAGGGCCCGGAACAGCTTGAACACCCGTGGGAGCGACGCCTCCTGCAGCAGGGGCACAGCTGTCAGTGCCCGCCCACACAGCAGAGGCAGGCGGGACCCTCACCCAAGCTGGCTCCCTGCACCCCCCACCACGGCGTCCAGGCACGTCCTGAGCCCCCACGCCCGTCTGGCCAGCCCCCTCAGCCCCTTGACTTCAGCTCTAAAGCCTGCCAGGCCCTTCACAGGAGACAGAGTCACCGAGTCCTCTCCGCTGTGGCCCCCCCCGGCTGCCCCTCCCCGAGGCTCTGGACCCCACCCCCTGCTGTTCAGTCCCAGGCCCCACGCCCATGCCCATGCCCTGCACATGCCTGGGGCACCGTGTAGGGGGAGGGGTTCATGAACTCGGAGAGGTCCATGGTGCACTCCCGCTCGTCCTGGGACACGTGGATGGACTGGATGGGTGGGAAGCGCGGGTAGGCGTCTCGGAAGTCCTTCAGCCTCAGGCGCCGCTGTACCAGGCCCAGGTTGGACCGCTCCACAAACACCTGCGGGCGGCAGAGCCCTGTGTCAGGCACCCAGGCAGCACCCCCGGGGCCCCCACCCGCCCAATGGCCCGGAGCCTGGCACGCACCTTGTGCTTTAGGAGAACGATGAGCTGGGAGCGCAGGATCAGGCCCTGGAGCCGGGCAGGCTGCAAGACAGGCCCGCGGTCAGGGCCACGGGCCCGAGGGTGGGAGGCTGCGCTGGAATGCTGTGTCGGGCCCCGCTCTGACCCTGTTCCGGCCAGATTTCCCATCTGGGCATGGGCCCCGTGTCGGTGGCTACCTGCTCACACCAGCCTCGCCATGGCATCCCACACGCACAATGCCACGGGACCCAAGGATCGGCGACAGGGTAGCGGGGCCTGACCGCGCACAGCAGAGAGCCAAGGGCCCAGGGATGGTGGCTTTGCTGCAGGGCAGATGCAGCCCCACTGGGTCCCAATAAAAACCAACCTCCAAACACCCAGTGTCCACGTCTAAAAGACACACAGCAGTGGCCGAGCTGTGTGTCCTGTCAGGGCCTCCTGACAAAGTCACGGCCCCCAGTGCCACGGCTCTCAGCCCAGCCTGGGTGCCAACCCCAAGACCCTGCCAGGCCGCAGCCCCCCCCACCAGCCTCAGCGTCCACACAGCCCTCCATGGCTGCACACTCAGCTTCCGGCACTCCTGGAACTGCCAGTGCACCCAAACGTGCAGCTTCCCCATCCTGCAAACCTTGCCGTGTGCTTCCCACCAATGGACTCGACAGAGGTCACATAGGCAGGACCCTGTCTATGGGGTGCCCGGTACCTGGGTGTCATCGGCATGCTCCACCACGGGGAAGCCGTTGTGATTGGACGCCGTGTCGCTCAGCACGTCCACAATGACGCCGACCTTCTCACGCCGCCTCAGGCAGGTCACTGGTGTGCTCATCACCTCCCTGCCGGAGGAGCCCGGCCACACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCGAGCCTACCCCTGGGAGCCCAGAGGCCGCCCCCAGAAACCCTGAGCCTACCCCCCGGGACCGGCTGTTTGGAGGCTCACAGGGGCCCCTCCCCTATGGCAGCACCCACGCTCTCAGGGTGAGGCTTCGAGGCCCTGGCGCACCTCAATGAAGACGTCGCCCACGATCTTGGCGGTCATGAGCACCAGCATGATGGGGAAGCCGTAGGTCACGTTGCTGGTGGCCTCCATCATGATGACGGTCAGGCTCAGTGTCATCCGCAC 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Task1_train_22025 | This alteration occurs within gene CLCN7 (chloride voltage-gated channel 7) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive osteopetrosis 4 | GGTCCTCAGTACACAACCACCACGAGGGAAACCCAGACCTAGGTTTCCGGCGCCGACTCTGAGGCCCGGGAGTTTTCTTCTTGCGTCACCCCAGCGTGGGCACCCCGGCCCGCCCCCCTCCACCTGGAGCGCCTCTGCCTTGCCCCCAGACCCACCAGCCAGGAGCCAGAGGAGGGAGGCTGAGGGGCGGGGACGAGGAAGAGGATGTGGCTGGTGCCCTGGGTGGCCGCAGCCGCTGTCTTTCACGCCTTTCTCACTCCACACGGTGCCCCGACCCCAGGGTCCCGAAAGTCCCAGGCTGTTGGACGTGGTCTGGGTGGGGTGGGAGGGACGACGCTGGCAAAGGCGGGCTGAGAGGATTTCTTTATTTCGCGTTCAGACCCAACACACTCGGACACCTTGGGGCCCTGTGAGGGCTAAGCAGGGTGGTGGCGTCAGCTCCCGGGGAGGCCCCACTCCCTGGGGAGGAAATACACGGCAGGGGGCCGCACCCAGCCCCCCACGGAGGGACCCGTGTTGCTCTAACAGGGACACTGAAGTTGCCTCTGCCGCCCCGTGAGGGGCCTGTGGCGGCCCCAGACCCAGCCCAGCCAGGCCAGAGGAGCCTCCCAGGGGCCCTCAGGTGGTGAGGTGGGGGCTTCCCGGCCCCGGTGCCCACCGGCCCTTCTAGCTGCCTGTGCTGGGCCAGGTGTCCTCTGAGGCCGGCAGGAGTCTGGCCCCCGCTGCACCTGCGCTTGGTGGCTGGCAGGGGCGGGGTAGGGAGGTCACCCTCGAGGCCGGGGTCCCCATGTGCTAGGGGAAGACCTGCCTTCCCAGCCAGTGTCCACAGGGCAGCAATTCCACGCTCTGAGGCTCAGGGACCAAGGCAGGGCTGGGTGTGGGGCCCAGACTCCAAGCTCTGGGGGTTGGGGGACCAAGGCAGGGCTGGGCATGGGGCTCAGGGCCTTGGAGGTTTTTCTCAGCTCTCAACATCACAGCACAGGGCCCGTGAGTCACCCCAGTCCTCTGGGCCTGTGTACCCAAGCCGGATGCAGGCCGGGGAGTGCACGTGGGGCTCCTCTGTGGCGCCAGTGTGAAGCTGCTCTCCGGGGCGGTCGCAGCCTCCAAACCCTGGTGCTACGAGTCCGTGCCTCAGGCCCAGGGACCACAGGCCGTCTGCTCATGGCTGAAAATGAGGCCAAGCAGCTCCCAAGTCTCGAAGACTCCACTGGTGTGGAGGCAGAGGGGCCCTTCCAGGGCAGGGCAGCCCTCGGGGCAGCAGCAGGGGCAAGGGCTCTGTCTCACGCACACGGGCACAGGCACGCAGGTGCCGGCCCTGCCGCTGGCTCCCAAGAGGCCGATAGCCCGGTAGGGAGGTCACACACACACAGCTGATCCCTGGAGGTAAAGAAACCTAGACGAGGAGAGTGGAGGCTGGGCCTGCGCAAGGAGGCGCCAAGGGGGGAGACCACTGCCCACAACAGGGTCAGTCCCGCGAGAGGGTCAGTTCCGCGCCTGCCGCCTGCCCGCCCAGCTGCAGGGTGCTCGCCATTGCCACTGCTGGGGAGCATGGTTTGGGCCGAGAAACCAGTGACTCCGGGAGGAAATGCAGAAGGGCCGGGGTGCCAGCGCCAGTGCCCATTATGGGCAGGGCTGGGCCTCACGTCTGGGCCAGCGAGAGCTCCTCCAAGCCTCTCTTTCCCAGGCGGTACCTGGCGAGGTCCTTCCTGGTCACCAACCCGACAACCTGCAGGACAAGTCCAGGCCACAGTGACACACGGGTCGGCTCCCGCCTGCCTGTGGAGCTCCCTGCCTTGTGTGTGGCTGGGGCAGCACAGGCAGGGGGCCCTGGGGGCTTCAGCACAGCCCCCGAGCTGAGCACGGGGCTGGGGAGGGGTGCAGCCATGGGGCATGGGCCGACTCGGTGCTGGGTCCTGTGCTTCCGTGTCCCCTGCCGGGAGCTGAGAGTAAGCACGGGCAGGAGGCAGAGGGGAGCCCTGCACGGCATGCCTGCACCCCCACCGCCCCCGCTCACCTGATTGCGGTTGTCCACCACCACCAGGTGCCGCAGGCCCAGGGCCCGGAACAGCTTGAACACCCGTGGGAGCGACGCCTCCTGCAGCAGGGGCACAGCTGTCAGTGCCCGCCCACACAGCAGAGGCAGGCGGGACCCTCACCCAAGCTGGCTCCCTGCACCCCCCACCACGGCGTCCAGGCACGTCCTGAGCCCCCACGCCCGTCTGGCCAGCCCCCTCAGCCCCTTGACTTCAGCTCTAAAGCCTGCCAGGCCCTTCACAGGAGACAGAGTCACCGAGTCCTCTCCGCTGTGGCCCCCCCCGGCTGCCCCTCCCCGAGGCTCTGGACCCCACCCCCTGCTGTTCAGTCCCAGGCCCCACGCCCATGCCCATGCCCTGCACATGCCTGGGGCACCGTGTAGGGGGAGGGGTTCATGAACTCGGAGAGGTCCATGGTGCACTCCCGCTCGTCCTGGGACACGTGGATGGACTGGATGGGTGGGAAGCGCGGGTAGGCGTCTCGGAAGTCCTTCAGCCTCAGGCGCCGCTGTACCAGGCCCAGGTTGGACCGCTCCACAAACACCTGCGGGCGGCAGAGCCCTGTGTCAGGCACCCAGGCAGCACCCCCGGGGCCCCCACCCGCCCAATGGCCCGGAGCCTGGCACGCACCTTGTGCTTTAGGAGAACGATGAGCTGGGAGCGCAGGATCAGGCCCTGGAGCCGGGCAGGCTGCAAGACAGGCCCGCGGTCAGGGCCACGGGCCCGAGGGTGGGAGGCTGCGCTGGAATGCTGTGTCGGGCCCCGCTCTGACCCTGTTCCGGCCAGATTTCCCATCTGGGCATGGGCCCCGTGTCGGTGGCTACCTGCTCACACCAGCCTCGCCATGGCATCCCACACGCACAATGCCACGGGACCCAAGGATCGGCGACAGGGTAGCGGGGCCTGACCGCGCACAGCAGAGAGCCAAGGGCCCAGGGATGGTGGCTTTGCTGCAGGGCAGATGCAGCCCCACTGGGTCCCAATAAAAACCAACCTCCAAACACCCAGTGTCCACGTCTAAAAGACACACAGCAGTGGCCGAGCTGTGTGTCCTGTCAGGGCCTCCTGACAAAGTCACGGCCCCCAGTGCCACGGCTCTCAGCCCAGCCTGGGTGCCAACCCCAAGACCCTGCCAGGCCGCAGCCCCCCCCACCAGCCTCAGCGTCCACACAGCCCTCCATGGCTGCACACTCAGCTTCCGGCACTCCTGGAACTGCCAGTGCACCCAAACGTGCAGCTTCCCCATCCTGCAAACCTTGCCGTGTGCTTCCCACCAATGGACTCGACAGAGGTCACATAGGCAGGACCCTGTCTATGGGGTGCCCGGTACCTGGGTGTCATCGGCATGCTCCACCACGGGGAAGCCGTTGTGATTGGACGCCGTGTCGCTCAGCACGTCCACAATGACGCCGACCTTCTCACGCCGCCTCAGGCAGGTCACTGGTGTGCTCATCACCTCCCTGCCGGAGGAGCCCGGCCACACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCGAGCCTACCCCTGGGAGCCCAGAGGCCGCCCCCAGAAACCCTGAGCCTACCCCCCGGGACCGGCTGTTTGGAGGCTCACAGGGGCCCCTCCCCTATGGCAGCACCCACGCTCTCAGGGTGAGGCTTCGAGGCCCTGGCGCACCTCAATGAAGACGTCGCCCACGATCTTGGCGGTCATGAGCACCAGCATGATGGGGAAGCCGTAGGTCACGTTGCTGGTGGCCTCCATCATGATGACGGTCAGGCTCAGTGTCATCCGCACAA 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GGTCCTCAGTACACAACCACCACGAGGGAAACCCAGACCTAGGTTTCCGGCGCCGACTCTGAGGCCCGGGAGTTTTCTTCTTGCGTCACCCCAGCGTGGGCACCCCGGCCCGCCCCCCTCCACCTGGAGCGCCTCTGCCTTGCCCCCAGACCCACCAGCCAGGAGCCAGAGGAGGGAGGCTGAGGGGCGGGGACGAGGAAGAGGATGTGGCTGGTGCCCTGGGTGGCCGCAGCCGCTGTCTTTCACGCCTTTCTCACTCCACACGGTGCCCCGACCCCAGGGTCCCGAAAGTCCCAGGCTGTTGGACGTGGTCTGGGTGGGGTGGGAGGGACGACGCTGGCAAAGGCGGGCTGAGAGGATTTCTTTATTTCGCGTTCAGACCCAACACACTCGGACACCTTGGGGCCCTGTGAGGGCTAAGCAGGGTGGTGGCGTCAGCTCCCGGGGAGGCCCCACTCCCTGGGGAGGAAATACACGGCAGGGGGCCGCACCCAGCCCCCCACGGAGGGACCCGTGTTGCTCTAACAGGGACACTGAAGTTGCCTCTGCCGCCCCGTGAGGGGCCTGTGGCGGCCCCAGACCCAGCCCAGCCAGGCCAGAGGAGCCTCCCAGGGGCCCTCAGGTGGTGAGGTGGGGGCTTCCCGGCCCCGGTGCCCACCGGCCCTTCTAGCTGCCTGTGCTGGGCCAGGTGTCCTCTGAGGCCGGCAGGAGTCTGGCCCCCGCTGCACCTGCGCTTGGTGGCTGGCAGGGGCGGGGTAGGGAGGTCACCCTCGAGGCCGGGGTCCCCATGTGCTAGGGGAAGACCTGCCTTCCCAGCCAGTGTCCACAGGGCAGCAATTCCACGCTCTGAGGCTCAGGGACCAAGGCAGGGCTGGGTGTGGGGCCCAGACTCCAAGCTCTGGGGGTTGGGGGACCAAGGCAGGGCTGGGCATGGGGCTCAGGGCCTTGGAGGTTTTTCTCAGCTCTCAACATCACAGCACAGGGCCCGTGAGTCACCCCAGTCCTCTGGGCCTGTGTACCCAAGCCGGATGCAGGCCGGGGAGTGCACGTGGGGCTCCTCTGTGGCGCCAGTGTGAAGCTGCTCTCCGGGGCGGTCGCAGCCTCCAAACCCTGGTGCTACGAGTCCGTGCCTCAGGCCCAGGGACCACAGGCCGTCTGCTCATGGCTGAAAATGAGGCCAAGCAGCTCCCAAGTCTCGAAGACTCCACTGGTGTGGAGGCAGAGGGGCCCTTCCAGGGCAGGGCAGCCCTCGGGGCAGCAGCAGGGGCAAGGGCTCTGTCTCACGCACACGGGCACAGGCACGCAGGTGCCGGCCCTGCCGCTGGCTCCCAAGAGGCCGATAGCCCGGTAGGGAGGTCACACACACACAGCTGATCCCTGGAGGTAAAGAAACCTAGACGAGGAGAGTGGAGGCTGGGCCTGCGCAAGGAGGCGCCAAGGGGGGAGACCACTGCCCACAACAGGGTCAGTCCCGCGAGAGGGTCAGTTCCGCGCCTGCCGCCTGCCCGCCCAGCTGCAGGGTGCTCGCCATTGCCACTGCTGGGGAGCATGGTTTGGGCCGAGAAACCAGTGACTCCGGGAGGAAATGCAGAAGGGCCGGGGTGCCAGCGCCAGTGCCCATTATGGGCAGGGCTGGGCCTCACGTCTGGGCCAGCGAGAGCTCCTCCAAGCCTCTCTTTCCCAGGCGGTACCTGGCGAGGTCCTTCCTGGTCACCAACCCGACAACCTGCAGGACAAGTCCAGGCCACAGTGACACACGGGTCGGCTCCCGCCTGCCTGTGGAGCTCCCTGCCTTGTGTGTGGCTGGGGCAGCACAGGCAGGGGGCCCTGGGGGCTTCAGCACAGCCCCCGAGCTGAGCACGGGGCTGGGGAGGGGTGCAGCCATGGGGCATGGGCCGACTCGGTGCTGGGTCCTGTGCTTCCGTGTCCCCTGCCGGGAGCTGAGAGTAAGCACGGGCAGGAGGCAGAGGGGAGCCCTGCACGGCATGCCTGCACCCCCACCGCCCCCGCTCACCTGATTGCGGTTGTCCACCACCACCAGGTGCCGCGGGCCCAGGGCCCGGAACAGCTTGAACACCCGTGGGAGCGACGCCTCCTGCAGCAGGGGCACAGCTGTCAGTGCCCGCCCACACAGCAGAGGCAGGCGGGACCCTCACCCAAGCTGGCTCCCTGCACCCCCCACCACGGCGTCCAGGCACGTCCTGAGCCCCCACGCCCGTCTGGCCAGCCCCCTCAGCCCCTTGACTTCAGCTCTAAAGCCTGCCAGGCCCTTCACAGGAGACAGAGTCACCGAGTCCTCTCCGCTGTGGCCCCCCCCGGCTGCCCCTCCCCGAGGCTCTGGACCCCACCCCCTGCTGTTCAGTCCCAGGCCCCACGCCCATGCCCATGCCCTGCACATGCCTGGGGCACCGTGTAGGGGGAGGGGTTCATGAACTCGGAGAGGTCCATGGTGCACTCCCGCTCGTCCTGGGACACGTGGATGGACTGGATGGGTGGGAAGCGCGGGTAGGCGTCTCGGAAGTCCTTCAGCCTCAGGCGCCGCTGTACCAGGCCCAGGTTGGACCGCTCCACAAACACCTGCGGGCGGCAGAGCCCTGTGTCAGGCACCCAGGCAGCACCCCCGGGGCCCCCACCCGCCCAATGGCCCGGAGCCTGGCACGCACCTTGTGCTTTAGGAGAACGATGAGCTGGGAGCGCAGGATCAGGCCCTGGAGCCGGGCAGGCTGCAAGACAGGCCCGCGGTCAGGGCCACGGGCCCGAGGGTGGGAGGCTGCGCTGGAATGCTGTGTCGGGCCCCGCTCTGACCCTGTTCCGGCCAGATTTCCCATCTGGGCATGGGCCCCGTGTCGGTGGCTACCTGCTCACACCAGCCTCGCCATGGCATCCCACACGCACAATGCCACGGGACCCAAGGATCGGCGACAGGGTAGCGGGGCCTGACCGCGCACAGCAGAGAGCCAAGGGCCCAGGGATGGTGGCTTTGCTGCAGGGCAGATGCAGCCCCACTGGGTCCCAATAAAAACCAACCTCCAAACACCCAGTGTCCACGTCTAAAAGACACACAGCAGTGGCCGAGCTGTGTGTCCTGTCAGGGCCTCCTGACAAAGTCACGGCCCCCAGTGCCACGGCTCTCAGCCCAGCCTGGGTGCCAACCCCAAGACCCTGCCAGGCCGCAGCCCCCCCCACCAGCCTCAGCGTCCACACAGCCCTCCATGGCTGCACACTCAGCTTCCGGCACTCCTGGAACTGCCAGTGCACCCAAACGTGCAGCTTCCCCATCCTGCAAACCTTGCCGTGTGCTTCCCACCAATGGACTCGACAGAGGTCACATAGGCAGGACCCTGTCTATGGGGTGCCCGGTACCTGGGTGTCATCGGCATGCTCCACCACGGGGAAGCCGTTGTGATTGGACGCCGTGTCGCTCAGCACGTCCACAATGACGCCGACCTTCTCACGCCGCCTCAGGCAGGTCACTGGTGTGCTCATCACCTCCCTGCCGGAGGAGCCCGGCCACACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCGAGCCTACCCCTGGGAGCCCAGAGGCCGCCCCCAGAAACCCTGAGCCTACCCCCCGGGACCGGCTGTTTGGAGGCTCACAGGGGCCCCTCCCCTATGGCAGCACCCACGCTCTCAGGGTGAGGCTTCGAGGCCCTGGCGCACCTCAATGAAGACGTCGCCCACGATCTTGGCGGTCATGAGCACCAGCATGATGGGGAAGCCGTAGGTCACGTTGCTGGTGGCCTCCATCATGATGACGGTCAGGCTCAGTGTCATCCGCACAA 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Task1_train_22026 | This variant affects the gene CLCN7 (chloride voltage-gated channel 7) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal recessive osteopetrosis 4 | ACAACCACCACGAGGGAAACCCAGACCTAGGTTTCCGGCGCCGACTCTGAGGCCCGGGAGTTTTCTTCTTGCGTCACCCCAGCGTGGGCACCCCGGCCCGCCCCCCTCCACCTGGAGCGCCTCTGCCTTGCCCCCAGACCCACCAGCCAGGAGCCAGAGGAGGGAGGCTGAGGGGCGGGGACGAGGAAGAGGATGTGGCTGGTGCCCTGGGTGGCCGCAGCCGCTGTCTTTCACGCCTTTCTCACTCCACACGGTGCCCCGACCCCAGGGTCCCGAAAGTCCCAGGCTGTTGGACGTGGTCTGGGTGGGGTGGGAGGGACGACGCTGGCAAAGGCGGGCTGAGAGGATTTCTTTATTTCGCGTTCAGACCCAACACACTCGGACACCTTGGGGCCCTGTGAGGGCTAAGCAGGGTGGTGGCGTCAGCTCCCGGGGAGGCCCCACTCCCTGGGGAGGAAATACACGGCAGGGGGCCGCACCCAGCCCCCCACGGAGGGACCCGTGTTGCTCTAACAGGGACACTGAAGTTGCCTCTGCCGCCCCGTGAGGGGCCTGTGGCGGCCCCAGACCCAGCCCAGCCAGGCCAGAGGAGCCTCCCAGGGGCCCTCAGGTGGTGAGGTGGGGGCTTCCCGGCCCCGGTGCCCACCGGCCCTTCTAGCTGCCTGTGCTGGGCCAGGTGTCCTCTGAGGCCGGCAGGAGTCTGGCCCCCGCTGCACCTGCGCTTGGTGGCTGGCAGGGGCGGGGTAGGGAGGTCACCCTCGAGGCCGGGGTCCCCATGTGCTAGGGGAAGACCTGCCTTCCCAGCCAGTGTCCACAGGGCAGCAATTCCACGCTCTGAGGCTCAGGGACCAAGGCAGGGCTGGGTGTGGGGCCCAGACTCCAAGCTCTGGGGGTTGGGGGACCAAGGCAGGGCTGGGCATGGGGCTCAGGGCCTTGGAGGTTTTTCTCAGCTCTCAACATCACAGCACAGGGCCCGTGAGTCACCCCAGTCCTCTGGGCCTGTGTACCCAAGCCGGATGCAGGCCGGGGAGTGCACGTGGGGCTCCTCTGTGGCGCCAGTGTGAAGCTGCTCTCCGGGGCGGTCGCAGCCTCCAAACCCTGGTGCTACGAGTCCGTGCCTCAGGCCCAGGGACCACAGGCCGTCTGCTCATGGCTGAAAATGAGGCCAAGCAGCTCCCAAGTCTCGAAGACTCCACTGGTGTGGAGGCAGAGGGGCCCTTCCAGGGCAGGGCAGCCCTCGGGGCAGCAGCAGGGGCAAGGGCTCTGTCTCACGCACACGGGCACAGGCACGCAGGTGCCGGCCCTGCCGCTGGCTCCCAAGAGGCCGATAGCCCGGTAGGGAGGTCACACACACACAGCTGATCCCTGGAGGTAAAGAAACCTAGACGAGGAGAGTGGAGGCTGGGCCTGCGCAAGGAGGCGCCAAGGGGGGAGACCACTGCCCACAACAGGGTCAGTCCCGCGAGAGGGTCAGTTCCGCGCCTGCCGCCTGCCCGCCCAGCTGCAGGGTGCTCGCCATTGCCACTGCTGGGGAGCATGGTTTGGGCCGAGAAACCAGTGACTCCGGGAGGAAATGCAGAAGGGCCGGGGTGCCAGCGCCAGTGCCCATTATGGGCAGGGCTGGGCCTCACGTCTGGGCCAGCGAGAGCTCCTCCAAGCCTCTCTTTCCCAGGCGGTACCTGGCGAGGTCCTTCCTGGTCACCAACCCGACAACCTGCAGGACAAGTCCAGGCCACAGTGACACACGGGTCGGCTCCCGCCTGCCTGTGGAGCTCCCTGCCTTGTGTGTGGCTGGGGCAGCACAGGCAGGGGGCCCTGGGGGCTTCAGCACAGCCCCCGAGCTGAGCACGGGGCTGGGGAGGGGTGCAGCCATGGGGCATGGGCCGACTCGGTGCTGGGTCCTGTGCTTCCGTGTCCCCTGCCGGGAGCTGAGAGTAAGCACGGGCAGGAGGCAGAGGGGAGCCCTGCACGGCATGCCTGCACCCCCACCGCCCCCGCTCACCTGATTGCGGTTGTCCACCACCACCAGGTGCCGCAGGCCCAGGGCCCGGAACAGCTTGAACACCCGTGGGAGCGACGCCTCCTGCAGCAGGGGCACAGCTGTCAGTGCCCGCCCACACAGCAGAGGCAGGCGGGACCCTCACCCAAGCTGGCTCCCTGCACCCCCCACCACGGCGTCCAGGCACGTCCTGAGCCCCCACGCCCGTCTGGCCAGCCCCCTCAGCCCCTTGACTTCAGCTCTAAAGCCTGCCAGGCCCTTCACAGGAGACAGAGTCACCGAGTCCTCTCCGCTGTGGCCCCCCCCGGCTGCCCCTCCCCGAGGCTCTGGACCCCACCCCCTGCTGTTCAGTCCCAGGCCCCACGCCCATGCCCATGCCCTGCACATGCCTGGGGCACCGTGTAGGGGGAGGGGTTCATGAACTCGGAGAGGTCCATGGTGCACTCCCGCTCGTCCTGGGACACGTGGATGGACTGGATGGGTGGGAAGCGCGGGTAGGCGTCTCGGAAGTCCTTCAGCCTCAGGCGCCGCTGTACCAGGCCCAGGTTGGACCGCTCCACAAACACCTGCGGGCGGCAGAGCCCTGTGTCAGGCACCCAGGCAGCACCCCCGGGGCCCCCACCCGCCCAATGGCCCGGAGCCTGGCACGCACCTTGTGCTTTAGGAGAACGATGAGCTGGGAGCGCAGGATCAGGCCCTGGAGCCGGGCAGGCTGCAAGACAGGCCCGCGGTCAGGGCCACGGGCCCGAGGGTGGGAGGCTGCGCTGGAATGCTGTGTCGGGCCCCGCTCTGACCCTGTTCCGGCCAGATTTCCCATCTGGGCATGGGCCCCGTGTCGGTGGCTACCTGCTCACACCAGCCTCGCCATGGCATCCCACACGCACAATGCCACGGGACCCAAGGATCGGCGACAGGGTAGCGGGGCCTGACCGCGCACAGCAGAGAGCCAAGGGCCCAGGGATGGTGGCTTTGCTGCAGGGCAGATGCAGCCCCACTGGGTCCCAATAAAAACCAACCTCCAAACACCCAGTGTCCACGTCTAAAAGACACACAGCAGTGGCCGAGCTGTGTGTCCTGTCAGGGCCTCCTGACAAAGTCACGGCCCCCAGTGCCACGGCTCTCAGCCCAGCCTGGGTGCCAACCCCAAGACCCTGCCAGGCCGCAGCCCCCCCCACCAGCCTCAGCGTCCACACAGCCCTCCATGGCTGCACACTCAGCTTCCGGCACTCCTGGAACTGCCAGTGCACCCAAACGTGCAGCTTCCCCATCCTGCAAACCTTGCCGTGTGCTTCCCACCAATGGACTCGACAGAGGTCACATAGGCAGGACCCTGTCTATGGGGTGCCCGGTACCTGGGTGTCATCGGCATGCTCCACCACGGGGAAGCCGTTGTGATTGGACGCCGTGTCGCTCAGCACGTCCACAATGACGCCGACCTTCTCACGCCGCCTCAGGCAGGTCACTGGTGTGCTCATCACCTCCCTGCCGGAGGAGCCCGGCCACACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCGAGCCTACCCCTGGGAGCCCAGAGGCCGCCCCCAGAAACCCTGAGCCTACCCCCCGGGACCGGCTGTTTGGAGGCTCACAGGGGCCCCTCCCCTATGGCAGCACCCACGCTCTCAGGGTGAGGCTTCGAGGCCCTGGCGCACCTCAATGAAGACGTCGCCCACGATCTTGGCGGTCATGAGCACCAGCATGATGGGGAAGCCGTAGGTCACGTTGCTGGTGGCCTCCATCATGATGACGGTCAGGCTCAGTGTCATCCGCACAATCCCGCCTGCGG 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ACAACCACCACGAGGGAAACCCAGACCTAGGTTTCCGGCGCCGACTCTGAGGCCCGGGAGTTTTCTTCTTGCGTCACCCCAGCGTGGGCACCCCGGCCCGCCCCCCTCCACCTGGAGCGCCTCTGCCTTGCCCCCAGACCCACCAGCCAGGAGCCAGAGGAGGGAGGCTGAGGGGCGGGGACGAGGAAGAGGATGTGGCTGGTGCCCTGGGTGGCCGCAGCCGCTGTCTTTCACGCCTTTCTCACTCCACACGGTGCCCCGACCCCAGGGTCCCGAAAGTCCCAGGCTGTTGGACGTGGTCTGGGTGGGGTGGGAGGGACGACGCTGGCAAAGGCGGGCTGAGAGGATTTCTTTATTTCGCGTTCAGACCCAACACACTCGGACACCTTGGGGCCCTGTGAGGGCTAAGCAGGGTGGTGGCGTCAGCTCCCGGGGAGGCCCCACTCCCTGGGGAGGAAATACACGGCAGGGGGCCGCACCCAGCCCCCCACGGAGGGACCCGTGTTGCTCTAACAGGGACACTGAAGTTGCCTCTGCCGCCCCGTGAGGGGCCTGTGGCGGCCCCAGACCCAGCCCAGCCAGGCCAGAGGAGCCTCCCAGGGGCCCTCAGGTGGTGAGGTGGGGGCTTCCCGGCCCCGGTGCCCACCGGCCCTTCTAGCTGCCTGTGCTGGGCCAGGTGTCCTCTGAGGCCGGCAGGAGTCTGGCCCCCGCTGCACCTGCGCTTGGTGGCTGGCAGGGGCGGGGTAGGGAGGTCACCCTCGAGGCCGGGGTCCCCATGTGCTAGGGGAAGACCTGCCTTCCCAGCCAGTGTCCACAGGGCAGCAATTCCACGCTCTGAGGCTCAGGGACCAAGGCAGGGCTGGGTGTGGGGCCCAGACTCCAAGCTCTGGGGGTTGGGGGACCAAGGCAGGGCTGGGCATGGGGCTCAGGGCCTTGGAGGTTTTTCTCAGCTCTCAACATCACAGCACAGGGCCCGTGAGTCACCCCAGTCCTCTGGGCCTGTGTACCCAAGCCGGATGCAGGCCGGGGAGTGCACGTGGGGCTCCTCTGTGGCGCCAGTGTGAAGCTGCTCTCCGGGGCGGTCGCAGCCTCCAAACCCTGGTGCTACGAGTCCGTGCCTCAGGCCCAGGGACCACAGGCCGTCTGCTCATGGCTGAAAATGAGGCCAAGCAGCTCCCAAGTCTCGAAGACTCCACTGGTGTGGAGGCAGAGGGGCCCTTCCAGGGCAGGGCAGCCCTCGGGGCAGCAGCAGGGGCAAGGGCTCTGTCTCACGCACACGGGCACAGGCACGCAGGTGCCGGCCCTGCCGCTGGCTCCCAAGAGGCCGATAGCCCGGTAGGGAGGTCACACACACACAGCTGATCCCTGGAGGTAAAGAAACCTAGACGAGGAGAGTGGAGGCTGGGCCTGCGCAAGGAGGCGCCAAGGGGGGAGACCACTGCCCACAACAGGGTCAGTCCCGCGAGAGGGTCAGTTCCGCGCCTGCCGCCTGCCCGCCCAGCTGCAGGGTGCTCGCCATTGCCACTGCTGGGGAGCATGGTTTGGGCCGAGAAACCAGTGACTCCGGGAGGAAATGCAGAAGGGCCGGGGTGCCAGCGCCAGTGCCCATTATGGGCAGGGCTGGGCCTCACGTCTGGGCCAGCGAGAGCTCCTCCAAGCCTCTCTTTCCCAGGCGGTACCTGGCGAGGTCCTTCCTGGTCACCAACCCGACAACCTGCAGGACAAGTCCAGGCCACAGTGACACACGGGTCGGCTCCCGCCTGCCTGTGGAGCTCCCTGCCTTGTGTGTGGCTGGGGCAGCACAGGCAGGGGGCCCTGGGGGCTTCAGCACAGCCCCCGAGCTGAGCACGGGGCTGGGGAGGGGTGCAGCCATGGGGCATGGGCCGACTCGGTGCTGGGTCCTGTGCTTCCGTGTCCCCTGCCGGGAGCTGAGAGTAAGCACGGGCAGGAGGCAGAGGGGAGCCCTGCACGGCATGCCTGCACCCCCACCGCCCCCGCTCACCTGATTGCGGTTGTCCACCACCACCAGGTGCCGCAGGCCCAGGGCCTGGAACAGCTTGAACACCCGTGGGAGCGACGCCTCCTGCAGCAGGGGCACAGCTGTCAGTGCCCGCCCACACAGCAGAGGCAGGCGGGACCCTCACCCAAGCTGGCTCCCTGCACCCCCCACCACGGCGTCCAGGCACGTCCTGAGCCCCCACGCCCGTCTGGCCAGCCCCCTCAGCCCCTTGACTTCAGCTCTAAAGCCTGCCAGGCCCTTCACAGGAGACAGAGTCACCGAGTCCTCTCCGCTGTGGCCCCCCCCGGCTGCCCCTCCCCGAGGCTCTGGACCCCACCCCCTGCTGTTCAGTCCCAGGCCCCACGCCCATGCCCATGCCCTGCACATGCCTGGGGCACCGTGTAGGGGGAGGGGTTCATGAACTCGGAGAGGTCCATGGTGCACTCCCGCTCGTCCTGGGACACGTGGATGGACTGGATGGGTGGGAAGCGCGGGTAGGCGTCTCGGAAGTCCTTCAGCCTCAGGCGCCGCTGTACCAGGCCCAGGTTGGACCGCTCCACAAACACCTGCGGGCGGCAGAGCCCTGTGTCAGGCACCCAGGCAGCACCCCCGGGGCCCCCACCCGCCCAATGGCCCGGAGCCTGGCACGCACCTTGTGCTTTAGGAGAACGATGAGCTGGGAGCGCAGGATCAGGCCCTGGAGCCGGGCAGGCTGCAAGACAGGCCCGCGGTCAGGGCCACGGGCCCGAGGGTGGGAGGCTGCGCTGGAATGCTGTGTCGGGCCCCGCTCTGACCCTGTTCCGGCCAGATTTCCCATCTGGGCATGGGCCCCGTGTCGGTGGCTACCTGCTCACACCAGCCTCGCCATGGCATCCCACACGCACAATGCCACGGGACCCAAGGATCGGCGACAGGGTAGCGGGGCCTGACCGCGCACAGCAGAGAGCCAAGGGCCCAGGGATGGTGGCTTTGCTGCAGGGCAGATGCAGCCCCACTGGGTCCCAATAAAAACCAACCTCCAAACACCCAGTGTCCACGTCTAAAAGACACACAGCAGTGGCCGAGCTGTGTGTCCTGTCAGGGCCTCCTGACAAAGTCACGGCCCCCAGTGCCACGGCTCTCAGCCCAGCCTGGGTGCCAACCCCAAGACCCTGCCAGGCCGCAGCCCCCCCCACCAGCCTCAGCGTCCACACAGCCCTCCATGGCTGCACACTCAGCTTCCGGCACTCCTGGAACTGCCAGTGCACCCAAACGTGCAGCTTCCCCATCCTGCAAACCTTGCCGTGTGCTTCCCACCAATGGACTCGACAGAGGTCACATAGGCAGGACCCTGTCTATGGGGTGCCCGGTACCTGGGTGTCATCGGCATGCTCCACCACGGGGAAGCCGTTGTGATTGGACGCCGTGTCGCTCAGCACGTCCACAATGACGCCGACCTTCTCACGCCGCCTCAGGCAGGTCACTGGTGTGCTCATCACCTCCCTGCCGGAGGAGCCCGGCCACACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCGAGCCTACCCCTGGGAGCCCAGAGGCCGCCCCCAGAAACCCTGAGCCTACCCCCCGGGACCGGCTGTTTGGAGGCTCACAGGGGCCCCTCCCCTATGGCAGCACCCACGCTCTCAGGGTGAGGCTTCGAGGCCCTGGCGCACCTCAATGAAGACGTCGCCCACGATCTTGGCGGTCATGAGCACCAGCATGATGGGGAAGCCGTAGGTCACGTTGCTGGTGGCCTCCATCATGATGACGGTCAGGCTCAGTGTCATCCGCACAATCCCGCCTGCGG 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Task1_train_22027 | Given a variant located on Chromosome 16 and affecting CLCN7 (chloride voltage-gated channel 7), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | CCTGGGGAGGAAATACACGGCAGGGGGCCGCACCCAGCCCCCCACGGAGGGACCCGTGTTGCTCTAACAGGGACACTGAAGTTGCCTCTGCCGCCCCGTGAGGGGCCTGTGGCGGCCCCAGACCCAGCCCAGCCAGGCCAGAGGAGCCTCCCAGGGGCCCTCAGGTGGTGAGGTGGGGGCTTCCCGGCCCCGGTGCCCACCGGCCCTTCTAGCTGCCTGTGCTGGGCCAGGTGTCCTCTGAGGCCGGCAGGAGTCTGGCCCCCGCTGCACCTGCGCTTGGTGGCTGGCAGGGGCGGGGTAGGGAGGTCACCCTCGAGGCCGGGGTCCCCATGTGCTAGGGGAAGACCTGCCTTCCCAGCCAGTGTCCACAGGGCAGCAATTCCACGCTCTGAGGCTCAGGGACCAAGGCAGGGCTGGGTGTGGGGCCCAGACTCCAAGCTCTGGGGGTTGGGGGACCAAGGCAGGGCTGGGCATGGGGCTCAGGGCCTTGGAGGTTTTTCTCAGCTCTCAACATCACAGCACAGGGCCCGTGAGTCACCCCAGTCCTCTGGGCCTGTGTACCCAAGCCGGATGCAGGCCGGGGAGTGCACGTGGGGCTCCTCTGTGGCGCCAGTGTGAAGCTGCTCTCCGGGGCGGTCGCAGCCTCCAAACCCTGGTGCTACGAGTCCGTGCCTCAGGCCCAGGGACCACAGGCCGTCTGCTCATGGCTGAAAATGAGGCCAAGCAGCTCCCAAGTCTCGAAGACTCCACTGGTGTGGAGGCAGAGGGGCCCTTCCAGGGCAGGGCAGCCCTCGGGGCAGCAGCAGGGGCAAGGGCTCTGTCTCACGCACACGGGCACAGGCACGCAGGTGCCGGCCCTGCCGCTGGCTCCCAAGAGGCCGATAGCCCGGTAGGGAGGTCACACACACACAGCTGATCCCTGGAGGTAAAGAAACCTAGACGAGGAGAGTGGAGGCTGGGCCTGCGCAAGGAGGCGCCAAGGGGGGAGACCACTGCCCACAACAGGGTCAGTCCCGCGAGAGGGTCAGTTCCGCGCCTGCCGCCTGCCCGCCCAGCTGCAGGGTGCTCGCCATTGCCACTGCTGGGGAGCATGGTTTGGGCCGAGAAACCAGTGACTCCGGGAGGAAATGCAGAAGGGCCGGGGTGCCAGCGCCAGTGCCCATTATGGGCAGGGCTGGGCCTCACGTCTGGGCCAGCGAGAGCTCCTCCAAGCCTCTCTTTCCCAGGCGGTACCTGGCGAGGTCCTTCCTGGTCACCAACCCGACAACCTGCAGGACAAGTCCAGGCCACAGTGACACACGGGTCGGCTCCCGCCTGCCTGTGGAGCTCCCTGCCTTGTGTGTGGCTGGGGCAGCACAGGCAGGGGGCCCTGGGGGCTTCAGCACAGCCCCCGAGCTGAGCACGGGGCTGGGGAGGGGTGCAGCCATGGGGCATGGGCCGACTCGGTGCTGGGTCCTGTGCTTCCGTGTCCCCTGCCGGGAGCTGAGAGTAAGCACGGGCAGGAGGCAGAGGGGAGCCCTGCACGGCATGCCTGCACCCCCACCGCCCCCGCTCACCTGATTGCGGTTGTCCACCACCACCAGGTGCCGCAGGCCCAGGGCCCGGAACAGCTTGAACACCCGTGGGAGCGACGCCTCCTGCAGCAGGGGCACAGCTGTCAGTGCCCGCCCACACAGCAGAGGCAGGCGGGACCCTCACCCAAGCTGGCTCCCTGCACCCCCCACCACGGCGTCCAGGCACGTCCTGAGCCCCCACGCCCGTCTGGCCAGCCCCCTCAGCCCCTTGACTTCAGCTCTAAAGCCTGCCAGGCCCTTCACAGGAGACAGAGTCACCGAGTCCTCTCCGCTGTGGCCCCCCCCGGCTGCCCCTCCCCGAGGCTCTGGACCCCACCCCCTGCTGTTCAGTCCCAGGCCCCACGCCCATGCCCATGCCCTGCACATGCCTGGGGCACCGTGTAGGGGGAGGGGTTCATGAACTCGGAGAGGTCCATGGTGCACTCCCGCTCGTCCTGGGACACGTGGATGGACTGGATGGGTGGGAAGCGCGGGTAGGCGTCTCGGAAGTCCTTCAGCCTCAGGCGCCGCTGTACCAGGCCCAGGTTGGACCGCTCCACAAACACCTGCGGGCGGCAGAGCCCTGTGTCAGGCACCCAGGCAGCACCCCCGGGGCCCCCACCCGCCCAATGGCCCGGAGCCTGGCACGCACCTTGTGCTTTAGGAGAACGATGAGCTGGGAGCGCAGGATCAGGCCCTGGAGCCGGGCAGGCTGCAAGACAGGCCCGCGGTCAGGGCCACGGGCCCGAGGGTGGGAGGCTGCGCTGGAATGCTGTGTCGGGCCCCGCTCTGACCCTGTTCCGGCCAGATTTCCCATCTGGGCATGGGCCCCGTGTCGGTGGCTACCTGCTCACACCAGCCTCGCCATGGCATCCCACACGCACAATGCCACGGGACCCAAGGATCGGCGACAGGGTAGCGGGGCCTGACCGCGCACAGCAGAGAGCCAAGGGCCCAGGGATGGTGGCTTTGCTGCAGGGCAGATGCAGCCCCACTGGGTCCCAATAAAAACCAACCTCCAAACACCCAGTGTCCACGTCTAAAAGACACACAGCAGTGGCCGAGCTGTGTGTCCTGTCAGGGCCTCCTGACAAAGTCACGGCCCCCAGTGCCACGGCTCTCAGCCCAGCCTGGGTGCCAACCCCAAGACCCTGCCAGGCCGCAGCCCCCCCCACCAGCCTCAGCGTCCACACAGCCCTCCATGGCTGCACACTCAGCTTCCGGCACTCCTGGAACTGCCAGTGCACCCAAACGTGCAGCTTCCCCATCCTGCAAACCTTGCCGTGTGCTTCCCACCAATGGACTCGACAGAGGTCACATAGGCAGGACCCTGTCTATGGGGTGCCCGGTACCTGGGTGTCATCGGCATGCTCCACCACGGGGAAGCCGTTGTGATTGGACGCCGTGTCGCTCAGCACGTCCACAATGACGCCGACCTTCTCACGCCGCCTCAGGCAGGTCACTGGTGTGCTCATCACCTCCCTGCCGGAGGAGCCCGGCCACACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCGAGCCTACCCCTGGGAGCCCAGAGGCCGCCCCCAGAAACCCTGAGCCTACCCCCCGGGACCGGCTGTTTGGAGGCTCACAGGGGCCCCTCCCCTATGGCAGCACCCACGCTCTCAGGGTGAGGCTTCGAGGCCCTGGCGCACCTCAATGAAGACGTCGCCCACGATCTTGGCGGTCATGAGCACCAGCATGATGGGGAAGCCGTAGGTCACGTTGCTGGTGGCCTCCATCATGATGACGGTCAGGCTCAGTGTCATCCGCACAATCCCGCCTGCGGGAGCCATCATGAACCCCAGCACGTCCACCCTCCTGGCTCAGGGTCACGTGGCCACTGCCTTCTCTGCAGCACCCATCCCATCCACCTGCTCCCAGACCCTAGCCCCGCAAGGACAGCCATGGCCCCCTCCAGACCCCGTGGAGCTCCCCACCCATCGGGCAAGAGCTGGGACATACCCAGCTGGGCAGCAGCTCCCATCAGGGCGTATTTGCCGGGGTCCGCCCAGATCTGTGGGAGGTGACACGGAGGAGGTGTCAGTGTGGTGGCAGGCCCAAACCCACCAAGATACACAGACGGAGGAGGCCCTGCCCAGGCCCAGCAGCCCCACAGCCAGGAACAAACCTCGTGGCCGCGTACATACACACAGAACAACCTAGCACAGTACACCCTGCTGCGGAGGCTGCATCCTTGGCCTGAACCAGGCGCTCAGCACCCGAGCAACAGGG 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CCTGGGGAGGAAATACACGGCAGGGGGCCGCACCCAGCCCCCCACGGAGGGACCCGTGTTGCTCTAACAGGGACACTGAAGTTGCCTCTGCCGCCCCGTGAGGGGCCTGTGGCGGCCCCAGACCCAGCCCAGCCAGGCCAGAGGAGCCTCCCAGGGGCCCTCAGGTGGTGAGGTGGGGGCTTCCCGGCCCCGGTGCCCACCGGCCCTTCTAGCTGCCTGTGCTGGGCCAGGTGTCCTCTGAGGCCGGCAGGAGTCTGGCCCCCGCTGCACCTGCGCTTGGTGGCTGGCAGGGGCGGGGTAGGGAGGTCACCCTCGAGGCCGGGGTCCCCATGTGCTAGGGGAAGACCTGCCTTCCCAGCCAGTGTCCACAGGGCAGCAATTCCACGCTCTGAGGCTCAGGGACCAAGGCAGGGCTGGGTGTGGGGCCCAGACTCCAAGCTCTGGGGGTTGGGGGACCAAGGCAGGGCTGGGCATGGGGCTCAGGGCCTTGGAGGTTTTTCTCAGCTCTCAACATCACAGCACAGGGCCCGTGAGTCACCCCAGTCCTCTGGGCCTGTGTACCCAAGCCGGATGCAGGCCGGGGAGTGCACGTGGGGCTCCTCTGTGGCGCCAGTGTGAAGCTGCTCTCCGGGGCGGTCGCAGCCTCCAAACCCTGGTGCTACGAGTCCGTGCCTCAGGCCCAGGGACCACAGGCCGTCTGCTCATGGCTGAAAATGAGGCCAAGCAGCTCCCAAGTCTCGAAGACTCCACTGGTGTGGAGGCAGAGGGGCCCTTCCAGGGCAGGGCAGCCCTCGGGGCAGCAGCAGGGGCAAGGGCTCTGTCTCACGCACACGGGCACAGGCACGCAGGTGCCGGCCCTGCCGCTGGCTCCCAAGAGGCCGATAGCCCGGTAGGGAGGTCACACACACACAGCTGATCCCTGGAGGTAAAGAAACCTAGACGAGGAGAGTGGAGGCTGGGCCTGCGCAAGGAGGCGCCAAGGGGGGAGACCACTGCCCACAACAGGGTCAGTCCCGCGAGAGGGTCAGTTCCGCGCCTGCCGCCTGCCCGCCCAGCTGCAGGGTGCTCGCCATTGCCACTGCTGGGGAGCATGGTTTGGGCCGAGAAACCAGTGACTCCGGGAGGAAATGCAGAAGGGCCGGGGTGCCAGCGCCAGTGCCCATTATGGGCAGGGCTGGGCCTCACGTCTGGGCCAGCGAGAGCTCCTCCAAGCCTCTCTTTCCCAGGCGGTACCTGGCGAGGTCCTTCCTGGTCACCAACCCGACAACCTGCAGGACAAGTCCAGGCCACAGTGACACACGGGTCGGCTCCCGCCTGCCTGTGGAGCTCCCTGCCTTGTGTGTGGCTGGGGCAGCACAGGCAGGGGGCCCTGGGGGCTTCAGCACAGCCCCCGAGCTGAGCACGGGGCTGGGGAGGGGTGCAGCCATGGGGCATGGGCCGACTCGGTGCTGGGTCCTGTGCTTCCGTGTCCCCTGCCGGGAGCTGAGAGTAAGCACGGGCAGGAGGCAGAGGGGAGCCCTGCACGGCATGCCTGCACCCCCACCGCCCCCGCTCACCTGATTGCGGTTGTCCACCACCACCAGGTGCCGCAGGCCCAGGGCCCGGAACAGCTTGAACACCCGTGGGAGCGACGCCTCCTGCAGCAGGGGCACAGCTGTCAGTGCCCGCCCACACAGCAGAGGCAGGCGGGACCCTCACCCAAGCTGGCTCCCTGCACCCCCCACCACGGCGTCCAGGCACGTCCTGAGCCCCCACGCCCGTCTGGCCAGCCCCCTCAGCCCCTTGACTTCAGCTCTAAAGCCTGCCAGGCCCTTCACAGGAGACAGAGTCACCGAGTCCTCTCCGCTGTGGCCCCCCCCGGCTGCCCCTCCCCGAGGCTCTGGACCCCACCCCCTGCTGTTCAGTCCCAGGCCCCACGCCCATGCCCATGCCCTGCACATGCCTGGGGCACCGTGTAGGGGGAGGGGTTCATGAACTCGGAGAGGTCCATGGTGCACTCCCGCTCGTCCTGGGACACGTGGATGGACTGGATGGGTGGGAAGCGCGGGCAGGCGTCTCGGAAGTCCTTCAGCCTCAGGCGCCGCTGTACCAGGCCCAGGTTGGACCGCTCCACAAACACCTGCGGGCGGCAGAGCCCTGTGTCAGGCACCCAGGCAGCACCCCCGGGGCCCCCACCCGCCCAATGGCCCGGAGCCTGGCACGCACCTTGTGCTTTAGGAGAACGATGAGCTGGGAGCGCAGGATCAGGCCCTGGAGCCGGGCAGGCTGCAAGACAGGCCCGCGGTCAGGGCCACGGGCCCGAGGGTGGGAGGCTGCGCTGGAATGCTGTGTCGGGCCCCGCTCTGACCCTGTTCCGGCCAGATTTCCCATCTGGGCATGGGCCCCGTGTCGGTGGCTACCTGCTCACACCAGCCTCGCCATGGCATCCCACACGCACAATGCCACGGGACCCAAGGATCGGCGACAGGGTAGCGGGGCCTGACCGCGCACAGCAGAGAGCCAAGGGCCCAGGGATGGTGGCTTTGCTGCAGGGCAGATGCAGCCCCACTGGGTCCCAATAAAAACCAACCTCCAAACACCCAGTGTCCACGTCTAAAAGACACACAGCAGTGGCCGAGCTGTGTGTCCTGTCAGGGCCTCCTGACAAAGTCACGGCCCCCAGTGCCACGGCTCTCAGCCCAGCCTGGGTGCCAACCCCAAGACCCTGCCAGGCCGCAGCCCCCCCCACCAGCCTCAGCGTCCACACAGCCCTCCATGGCTGCACACTCAGCTTCCGGCACTCCTGGAACTGCCAGTGCACCCAAACGTGCAGCTTCCCCATCCTGCAAACCTTGCCGTGTGCTTCCCACCAATGGACTCGACAGAGGTCACATAGGCAGGACCCTGTCTATGGGGTGCCCGGTACCTGGGTGTCATCGGCATGCTCCACCACGGGGAAGCCGTTGTGATTGGACGCCGTGTCGCTCAGCACGTCCACAATGACGCCGACCTTCTCACGCCGCCTCAGGCAGGTCACTGGTGTGCTCATCACCTCCCTGCCGGAGGAGCCCGGCCACACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCGAGCCTACCCCTGGGAGCCCAGAGGCCGCCCCCAGAAACCCTGAGCCTACCCCCCGGGACCGGCTGTTTGGAGGCTCACAGGGGCCCCTCCCCTATGGCAGCACCCACGCTCTCAGGGTGAGGCTTCGAGGCCCTGGCGCACCTCAATGAAGACGTCGCCCACGATCTTGGCGGTCATGAGCACCAGCATGATGGGGAAGCCGTAGGTCACGTTGCTGGTGGCCTCCATCATGATGACGGTCAGGCTCAGTGTCATCCGCACAATCCCGCCTGCGGGAGCCATCATGAACCCCAGCACGTCCACCCTCCTGGCTCAGGGTCACGTGGCCACTGCCTTCTCTGCAGCACCCATCCCATCCACCTGCTCCCAGACCCTAGCCCCGCAAGGACAGCCATGGCCCCCTCCAGACCCCGTGGAGCTCCCCACCCATCGGGCAAGAGCTGGGACATACCCAGCTGGGCAGCAGCTCCCATCAGGGCGTATTTGCCGGGGTCCGCCCAGATCTGTGGGAGGTGACACGGAGGAGGTGTCAGTGTGGTGGCAGGCCCAAACCCACCAAGATACACAGACGGAGGAGGCCCTGCCCAGGCCCAGCAGCCCCACAGCCAGGAACAAACCTCGTGGCCGCGTACATACACACAGAACAACCTAGCACAGTACACCCTGCTGCGGAGGCTGCATCCTTGGCCTGAACCAGGCGCTCAGCACCCGAGCAACAGGG 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Task1_train_22028 | Consider this mutation in CLCN7 (chloride voltage-gated channel 7) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal dominant osteopetrosis 2 | GGAGGAGCCCGGCCACACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCGAGCCTACCCCTGGGAGCCCAGAGGCCGCCCCCAGAAACCCTGAGCCTACCCCCCGGGACCGGCTGTTTGGAGGCTCACAGGGGCCCCTCCCCTATGGCAGCACCCACGCTCTCAGGGTGAGGCTTCGAGGCCCTGGCGCACCTCAATGAAGACGTCGCCCACGATCTTGGCGGTCATGAGCACCAGCATGATGGGGAAGCCGTAGGTCACGTTGCTGGTGGCCTCCATCATGATGACGGTCAGGCTCAGTGTCATCCGCACAATCCCGCCTGCGGGAGCCATCATGAACCCCAGCACGTCCACCCTCCTGGCTCAGGGTCACGTGGCCACTGCCTTCTCTGCAGCACCCATCCCATCCACCTGCTCCCAGACCCTAGCCCCGCAAGGACAGCCATGGCCCCCTCCAGACCCCGTGGAGCTCCCCACCCATCGGGCAAGAGCTGGGACATACCCAGCTGGGCAGCAGCTCCCATCAGGGCGTATTTGCCGGGGTCCGCCCAGATCTGTGGGAGGTGACACGGAGGAGGTGTCAGTGTGGTGGCAGGCCCAAACCCACCAAGATACACAGACGGAGGAGGCCCTGCCCAGGCCCAGCAGCCCCACAGCCAGGAACAAACCTCGTGGCCGCGTACATACACACAGAACAACCTAGCACAGTACACCCTGCTGCGGAGGCTGCATCCTTGGCCTGAACCAGGCGCTCAGCACCCGAGCAACAGGGGAGTGGCAGGCATGGAGGATGCAGAGGGCACAGTCACCACGCAGCAGCCCAGGCCAACTAGGGAGCACCGTCCAGCATGAGGAGTGAAACCCCGGCACACACGACACAGAGAGCCCCGGGAACATCAGGCTGGGCCACAGAACCCAGGCATGGAGGCTGCAGAAAGCGGGGCACGAGGGTCGGTGGGCACAGGGTTTCCATTCTGGGATGACGGAACATTCTAGAAGTGGTAGTGACGGCCGCACTGCCTCGTGAACGTGAGAAACGCCGCTGAACTGCCCTCTTTAAAACGATGAGTTTTACGGTATTTGAATCATGTTTCAATTTTAAAAACCAAACCAAACCCTTGTGCGGAGGGAGATGGGCAGAGCACACGGGCCTGGGGAGCAGGAGTGGGCGCTTCCTGCCGGGGATGAGAAGCATGGCCGGGGGCTTCCTGCCAGGGCCTCTTACAGGTTTTCAGTCTTATTTAAGCGACTGAAATGAGAAACAGAAGACACATAAGAGAACCCAGTCCCAGCAGAGGCAGGCAGAGAAGGAAGGCCTGCGGGGGCTGAGGTCTGGAGGGCAGTGTATGCCGCTCTGGCCCCCGGCCTCACAGAGAGCAGCCCTGGCCGGACATCCACCCCATGGAGTCTAGAAACAGCTCTGCAGCAGCCCACAATCACCTCTGCTTTTCATCACATTCTCAAGAATAAGGACACGAGCCTCCGCCCCCTACCTTCGCCTGGTCCAGACTCCACACATGGGCTGCGCTGCCACAGTACACGCTGCCACCACAGCAGGACAACGCCCACGGCCCGTGAACCACGCGAGGACAACGCCCACGGCCCGTGAACCACGTGAGGTGCGACACTTTTGTCCTGCCCTGGGACTTCTGCTCCGGCCCGCGATGCCGCAAGACCTGGCTCAGCTGCAGGGCCCCACAGCCTCCCCTCCGGCCCCACTCACCGCCGCCCCCGTGAGGTAGGACAGGGAGATCCCAAAGAGCCGGCCCCAGGCAGCCCCGATGAGCAGGGACGGGATGAAGACCCCGGCAGACACCGTGAGCCCGTAGGTCCAGCAGGCCAGGAAGAAGTAGACCAGCGTGAACAGGCCGAGGGTCAGGGGGTTGTAGGAGCCTAGGAGAGAAGAGGGGCTGACGGGGCCTCCACGACTCCCGCCTCCGCAGGACTGCCCTGCCCCGCTGCCCAGTCTCGGGCCTCACAGTCACCTTCCAGGAGCCCAGCAACCTGAGCTCCCGAGCCCAGCGGTCCCCAGAAGGCTCCCTGTTCTCAGCCTCCCTGGGAAGCAGAAAGGCTAAAAGGATCCCATGGGGAGGCCACAGGGGAAGAGGCTCTGCGGGGCCCTGATGCCAGCAGAAGCAGGAGCCGCGTCCAGCGGGGCGGCCCAGCTGGGTCTAGCAGCGCCAGGTCTACACTCCATGGGTGTGCACCGTGGTGCAGCTCGCAGCCTGGCTCCGGGAAGAGGGTGCCCCCCACAGCCTGGGGTTCCTTTCCTGGAGCAGGCAGCACTGTACTGCGTGCAGGGCGGGTGAGACCGCCAGGGACACAACTGCAGAGGTGAAAGGCCGGCACTCCAAGGTCGCGGTCTGCGCTTCCGTGAAACACTTGTGGTCGAGCGAGGCCAGGCCGTGGTCTTGGTGTGGGAGTCACCAGGCTGGGTTTTCTTTTGTTTTTTGAGAGAGGGTCTCGCTGTGTCACCCAGGCTGGTATGCAGTGATGTAATCACAGCTCATTGTGGCCTCAACCTTCTGGGCTCAAGCAATCCTCCCGGCCCAGCCTCCCAAGTACCTGGGACTGTGGGTGTACTACCGTAGCCAGATAATGTTGCTTTTTTGCAAAGACAGAGTCTCGCTAAGTTGCCCAGGCTGGTCTTAACCTCCTAGGCTCAAGTGATCCTCCTGCCTTGGTCTCTCCAAGTGCTGGGATTACAGGAGTGAGTCCCTGCTATGATCCATGCTAGGGATGACCCCCCAGCCCAGGGCTGCAACCTCAGCCCACAGGGGACACTCAGCCAGAAGGCATCACCCAGGCCCTGATCCCAGGGCCTGCCCAGCGGCACTGCCCACACACACCTGGCGGGTCGTGGAAGAGGCTCACCACGCTCTTCTCCGGGGTGTTGAAGAAGGCCGCAGCCATGGAGTTGTACTCGCCATCTGCACAAAAGAGCTGTGGGGTCGGGAGAGAGCACACGTTGGGAGGGGAGATGAGCTGGTGGGCTGCAGGCACAAACCTGGTGTCGCCGTGAGAGGCCGTGTACCCTGTGCCTGGCCAGCATCAGGCGCGAAACCACACGATCCTGCCATTGGGTCAGGGCCACGGTCACAGAGGGCAAGGAGGACACACAAGGCCCAAGCCATGGTCACGGAGGGAAAGGAGGACACACACGGCCTAGGCCCAGCAGGGGGCCGTGTCTAGCCCTGGGGGGTGGGTTAGCAGGACCATGGGCTGAGACGCTGTCCATCCCTGGTGCCGGGGAAGGTGGGCCCAGGCGCTCACATGAGCTCCTAGAAGAGGCTGTTGGCGCCCCGGTGCCACAGGCCCAGAGCCTCCTGGGCTCCAGCAGCACAGGGGGTGTTATCCACGGGGCTGGAGCAGAGTGTAGCAAGGCTGGTCAACCCCATGGCCCCGGGCCTCCCACGTCTCTAACGGTTCACACCTGACCCGTCCCATCCTGCCCACTCCCGCCGTGGCACCCACTGGTCTGCTGGGCCTCTAGGCTCTCCCTGTTCTGGATGTTTCATGTTAATGGGGCTACGTCGCGTGACCTCACGTGTGGTTCCTCTGAGCGTAGTGCTTTCCAGGGCAACCGTGTCACAGTGCAGATGGACGCACGGACGGCGGTGAGCCGTGAGCGCCAGGCACAGGTCCAGTTGTGGACGGAGGTTTGCATTTCTCCTGGGTCCACATCTATGGTGCCCCCATAGGGCGCCTGAGGCTCGCCCCGTCAGGCTGCCATTCTGGGAAGAGGACTGGGGGGAGCCTCTGGCCCCCATACCACCGCCCATTCCCCTGGCACCTCAGCAGACACCTGGCCT | GGAGGAGCCCGGCCACACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCGAGCCTACCCCTGGGAGCCCAGAGGCCGCCCCCAGAAACCCTGAGCCTACCCCCCGGGACCGGCTGTTTGGAGGCTCACAGGGGCCCCTCCCCTATGGCAGCACCCACGCTCTCAGGGTGAGGCTTCGAGGCCCTGGCGCACCTCAATGAAGACGTCGCCCACGATCTTGGCGGTCATGAGCACCAGCATGATGGGGAAGCCGTAGGTCACGTTGCTGGTGGCCTCCATCATGATGACGGTCAGGCTCAGTGTCATCCGCACAATCCCGCCTGCGGGAGCCATCATGAACCCCAGCACGTCCACCCTCCTGGCTCAGGGTCACGTGGCCACTGCCTTCTCTGCAGCACCCATCCCATCCACCTGCTCCCAGACCCTAGCCCCGCAAGGACAGCCATGGCCCCCTCCAGACCCCGTGGAGCTCCCCACCCATCGGGCAAGAGCTGGGACATACCCAGCTGGGCAGCAGCTCCCATCAGGGCGTATTTGCCGGGGTCCGCCCAGATCTGTGGGAGGTGACACGGAGGAGGTGTCAGTGTGGTGGCAGGCCCAAACCCACCAAGATACACAGACGGAGGAGGCCCTGCCCAGGCCCAGCAGCCCCACAGCCAGGAACAAACCTCGTGGCCGCGTACATACACACAGAACAACCTAGCACAGTACACCCTGCTGCGGAGGCTGCATCCTTGGCCTGAACCAGGCGCTCAGCACCCGAGCAACAGGGGAGTGGCAGGCATGGAGGATGCAGAGGGCACAGTCACCACGCAGCAGCCCAGGCCAACTAGGGAGCACCGTCCAGCATGAGGAGTGAAACCCCGGCACACACGACACAGAGAGCCCCGGGAACATCAGGCTGGGCCACAGAACCCAGGCATGGAGGCTGCAGAAAGCGGGGCACGAGGGTCGGTGGGCACAGGGTTTCCATTCTGGGATGACGGAACATTCTAGAAGTGGTAGTGACGGCCGCACTGCCTCGTGAACGTGAGAAACGCCGCTGAACTGCCCTCTTTAAAACGATGAGTTTTACGGTATTTGAATCATGTTTCAATTTTAAAAACCAAACCAAACCCTTGTGCGGAGGGAGATGGGCAGAGCACACGGGCCTGGGGAGCAGGAGTGGGCGCTTCCTGCCGGGGATGAGAAGCATGGCCGGGGGCTTCCTGCCAGGGCCTCTTACAGGTTTTCAGTCTTATTTAAGCGACTGAAATGAGAAACAGAAGACACATAAGAGAACCCAGTCCCAGCAGAGGCAGGCAGAGAAGGAAGGCCTGCGGGGGCTGAGGTCTGGAGGGCAGTGTATGCCGCTCTGGCCCCCGGCCTCACAGAGAGCAGCCCTGGCCGGACATCCACCCCATGGAGTCTAGAAACAGCTCTGCAGCAGCCCACAATCACCTCTGCTTTTCATCACATTCTCAAGAATAAGGACACGAGCCTCCGCCCCCTACCTTCGCCTGGTCCAGACTCCACACATGGGCTGCGCTGCCACAGTACACGCTGCCACCACAGCAGGACAACGCCCACGGCCCGTGAACCACGCGAGGACAACGCCCACGGCCCGTGAACCACGTGAGGTGCGACACTTTTGTCCTGCCCTGGGACTTCTGCTCCGGCCCGCGATGCCGCAAGACCTGGCTCAGCTGCAGGGCCCCACAGCCTCCCCTCCGGCCCCACTCACCGCCGCCCCCGTGAGGTAGGACAGGGAGATCCCAAAGAGCCAGCCCCAGGCAGCCCCGATGAGCAGGGACGGGATGAAGACCCCGGCAGACACCGTGAGCCCGTAGGTCCAGCAGGCCAGGAAGAAGTAGACCAGCGTGAACAGGCCGAGGGTCAGGGGGTTGTAGGAGCCTAGGAGAGAAGAGGGGCTGACGGGGCCTCCACGACTCCCGCCTCCGCAGGACTGCCCTGCCCCGCTGCCCAGTCTCGGGCCTCACAGTCACCTTCCAGGAGCCCAGCAACCTGAGCTCCCGAGCCCAGCGGTCCCCAGAAGGCTCCCTGTTCTCAGCCTCCCTGGGAAGCAGAAAGGCTAAAAGGATCCCATGGGGAGGCCACAGGGGAAGAGGCTCTGCGGGGCCCTGATGCCAGCAGAAGCAGGAGCCGCGTCCAGCGGGGCGGCCCAGCTGGGTCTAGCAGCGCCAGGTCTACACTCCATGGGTGTGCACCGTGGTGCAGCTCGCAGCCTGGCTCCGGGAAGAGGGTGCCCCCCACAGCCTGGGGTTCCTTTCCTGGAGCAGGCAGCACTGTACTGCGTGCAGGGCGGGTGAGACCGCCAGGGACACAACTGCAGAGGTGAAAGGCCGGCACTCCAAGGTCGCGGTCTGCGCTTCCGTGAAACACTTGTGGTCGAGCGAGGCCAGGCCGTGGTCTTGGTGTGGGAGTCACCAGGCTGGGTTTTCTTTTGTTTTTTGAGAGAGGGTCTCGCTGTGTCACCCAGGCTGGTATGCAGTGATGTAATCACAGCTCATTGTGGCCTCAACCTTCTGGGCTCAAGCAATCCTCCCGGCCCAGCCTCCCAAGTACCTGGGACTGTGGGTGTACTACCGTAGCCAGATAATGTTGCTTTTTTGCAAAGACAGAGTCTCGCTAAGTTGCCCAGGCTGGTCTTAACCTCCTAGGCTCAAGTGATCCTCCTGCCTTGGTCTCTCCAAGTGCTGGGATTACAGGAGTGAGTCCCTGCTATGATCCATGCTAGGGATGACCCCCCAGCCCAGGGCTGCAACCTCAGCCCACAGGGGACACTCAGCCAGAAGGCATCACCCAGGCCCTGATCCCAGGGCCTGCCCAGCGGCACTGCCCACACACACCTGGCGGGTCGTGGAAGAGGCTCACCACGCTCTTCTCCGGGGTGTTGAAGAAGGCCGCAGCCATGGAGTTGTACTCGCCATCTGCACAAAAGAGCTGTGGGGTCGGGAGAGAGCACACGTTGGGAGGGGAGATGAGCTGGTGGGCTGCAGGCACAAACCTGGTGTCGCCGTGAGAGGCCGTGTACCCTGTGCCTGGCCAGCATCAGGCGCGAAACCACACGATCCTGCCATTGGGTCAGGGCCACGGTCACAGAGGGCAAGGAGGACACACAAGGCCCAAGCCATGGTCACGGAGGGAAAGGAGGACACACACGGCCTAGGCCCAGCAGGGGGCCGTGTCTAGCCCTGGGGGGTGGGTTAGCAGGACCATGGGCTGAGACGCTGTCCATCCCTGGTGCCGGGGAAGGTGGGCCCAGGCGCTCACATGAGCTCCTAGAAGAGGCTGTTGGCGCCCCGGTGCCACAGGCCCAGAGCCTCCTGGGCTCCAGCAGCACAGGGGGTGTTATCCACGGGGCTGGAGCAGAGTGTAGCAAGGCTGGTCAACCCCATGGCCCCGGGCCTCCCACGTCTCTAACGGTTCACACCTGACCCGTCCCATCCTGCCCACTCCCGCCGTGGCACCCACTGGTCTGCTGGGCCTCTAGGCTCTCCCTGTTCTGGATGTTTCATGTTAATGGGGCTACGTCGCGTGACCTCACGTGTGGTTCCTCTGAGCGTAGTGCTTTCCAGGGCAACCGTGTCACAGTGCAGATGGACGCACGGACGGCGGTGAGCCGTGAGCGCCAGGCACAGGTCCAGTTGTGGACGGAGGTTTGCATTTCTCCTGGGTCCACATCTATGGTGCCCCCATAGGGCGCCTGAGGCTCGCCCCGTCAGGCTGCCATTCTGGGAAGAGGACTGGGGGGAGCCTCTGGCCCCCATACCACCGCCCATTCCCCTGGCACCTCAGCAGACACCTGGCCT 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Task1_train_22029 | Gene CLCN7 (chloride voltage-gated channel 7), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal dominant osteopetrosis 2 | ACACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCGAGCCTACCCCTGGGAGCCCAGAGGCCGCCCCCAGAAACCCTGAGCCTACCCCCCGGGACCGGCTGTTTGGAGGCTCACAGGGGCCCCTCCCCTATGGCAGCACCCACGCTCTCAGGGTGAGGCTTCGAGGCCCTGGCGCACCTCAATGAAGACGTCGCCCACGATCTTGGCGGTCATGAGCACCAGCATGATGGGGAAGCCGTAGGTCACGTTGCTGGTGGCCTCCATCATGATGACGGTCAGGCTCAGTGTCATCCGCACAATCCCGCCTGCGGGAGCCATCATGAACCCCAGCACGTCCACCCTCCTGGCTCAGGGTCACGTGGCCACTGCCTTCTCTGCAGCACCCATCCCATCCACCTGCTCCCAGACCCTAGCCCCGCAAGGACAGCCATGGCCCCCTCCAGACCCCGTGGAGCTCCCCACCCATCGGGCAAGAGCTGGGACATACCCAGCTGGGCAGCAGCTCCCATCAGGGCGTATTTGCCGGGGTCCGCCCAGATCTGTGGGAGGTGACACGGAGGAGGTGTCAGTGTGGTGGCAGGCCCAAACCCACCAAGATACACAGACGGAGGAGGCCCTGCCCAGGCCCAGCAGCCCCACAGCCAGGAACAAACCTCGTGGCCGCGTACATACACACAGAACAACCTAGCACAGTACACCCTGCTGCGGAGGCTGCATCCTTGGCCTGAACCAGGCGCTCAGCACCCGAGCAACAGGGGAGTGGCAGGCATGGAGGATGCAGAGGGCACAGTCACCACGCAGCAGCCCAGGCCAACTAGGGAGCACCGTCCAGCATGAGGAGTGAAACCCCGGCACACACGACACAGAGAGCCCCGGGAACATCAGGCTGGGCCACAGAACCCAGGCATGGAGGCTGCAGAAAGCGGGGCACGAGGGTCGGTGGGCACAGGGTTTCCATTCTGGGATGACGGAACATTCTAGAAGTGGTAGTGACGGCCGCACTGCCTCGTGAACGTGAGAAACGCCGCTGAACTGCCCTCTTTAAAACGATGAGTTTTACGGTATTTGAATCATGTTTCAATTTTAAAAACCAAACCAAACCCTTGTGCGGAGGGAGATGGGCAGAGCACACGGGCCTGGGGAGCAGGAGTGGGCGCTTCCTGCCGGGGATGAGAAGCATGGCCGGGGGCTTCCTGCCAGGGCCTCTTACAGGTTTTCAGTCTTATTTAAGCGACTGAAATGAGAAACAGAAGACACATAAGAGAACCCAGTCCCAGCAGAGGCAGGCAGAGAAGGAAGGCCTGCGGGGGCTGAGGTCTGGAGGGCAGTGTATGCCGCTCTGGCCCCCGGCCTCACAGAGAGCAGCCCTGGCCGGACATCCACCCCATGGAGTCTAGAAACAGCTCTGCAGCAGCCCACAATCACCTCTGCTTTTCATCACATTCTCAAGAATAAGGACACGAGCCTCCGCCCCCTACCTTCGCCTGGTCCAGACTCCACACATGGGCTGCGCTGCCACAGTACACGCTGCCACCACAGCAGGACAACGCCCACGGCCCGTGAACCACGCGAGGACAACGCCCACGGCCCGTGAACCACGTGAGGTGCGACACTTTTGTCCTGCCCTGGGACTTCTGCTCCGGCCCGCGATGCCGCAAGACCTGGCTCAGCTGCAGGGCCCCACAGCCTCCCCTCCGGCCCCACTCACCGCCGCCCCCGTGAGGTAGGACAGGGAGATCCCAAAGAGCCGGCCCCAGGCAGCCCCGATGAGCAGGGACGGGATGAAGACCCCGGCAGACACCGTGAGCCCGTAGGTCCAGCAGGCCAGGAAGAAGTAGACCAGCGTGAACAGGCCGAGGGTCAGGGGGTTGTAGGAGCCTAGGAGAGAAGAGGGGCTGACGGGGCCTCCACGACTCCCGCCTCCGCAGGACTGCCCTGCCCCGCTGCCCAGTCTCGGGCCTCACAGTCACCTTCCAGGAGCCCAGCAACCTGAGCTCCCGAGCCCAGCGGTCCCCAGAAGGCTCCCTGTTCTCAGCCTCCCTGGGAAGCAGAAAGGCTAAAAGGATCCCATGGGGAGGCCACAGGGGAAGAGGCTCTGCGGGGCCCTGATGCCAGCAGAAGCAGGAGCCGCGTCCAGCGGGGCGGCCCAGCTGGGTCTAGCAGCGCCAGGTCTACACTCCATGGGTGTGCACCGTGGTGCAGCTCGCAGCCTGGCTCCGGGAAGAGGGTGCCCCCCACAGCCTGGGGTTCCTTTCCTGGAGCAGGCAGCACTGTACTGCGTGCAGGGCGGGTGAGACCGCCAGGGACACAACTGCAGAGGTGAAAGGCCGGCACTCCAAGGTCGCGGTCTGCGCTTCCGTGAAACACTTGTGGTCGAGCGAGGCCAGGCCGTGGTCTTGGTGTGGGAGTCACCAGGCTGGGTTTTCTTTTGTTTTTTGAGAGAGGGTCTCGCTGTGTCACCCAGGCTGGTATGCAGTGATGTAATCACAGCTCATTGTGGCCTCAACCTTCTGGGCTCAAGCAATCCTCCCGGCCCAGCCTCCCAAGTACCTGGGACTGTGGGTGTACTACCGTAGCCAGATAATGTTGCTTTTTTGCAAAGACAGAGTCTCGCTAAGTTGCCCAGGCTGGTCTTAACCTCCTAGGCTCAAGTGATCCTCCTGCCTTGGTCTCTCCAAGTGCTGGGATTACAGGAGTGAGTCCCTGCTATGATCCATGCTAGGGATGACCCCCCAGCCCAGGGCTGCAACCTCAGCCCACAGGGGACACTCAGCCAGAAGGCATCACCCAGGCCCTGATCCCAGGGCCTGCCCAGCGGCACTGCCCACACACACCTGGCGGGTCGTGGAAGAGGCTCACCACGCTCTTCTCCGGGGTGTTGAAGAAGGCCGCAGCCATGGAGTTGTACTCGCCATCTGCACAAAAGAGCTGTGGGGTCGGGAGAGAGCACACGTTGGGAGGGGAGATGAGCTGGTGGGCTGCAGGCACAAACCTGGTGTCGCCGTGAGAGGCCGTGTACCCTGTGCCTGGCCAGCATCAGGCGCGAAACCACACGATCCTGCCATTGGGTCAGGGCCACGGTCACAGAGGGCAAGGAGGACACACAAGGCCCAAGCCATGGTCACGGAGGGAAAGGAGGACACACACGGCCTAGGCCCAGCAGGGGGCCGTGTCTAGCCCTGGGGGGTGGGTTAGCAGGACCATGGGCTGAGACGCTGTCCATCCCTGGTGCCGGGGAAGGTGGGCCCAGGCGCTCACATGAGCTCCTAGAAGAGGCTGTTGGCGCCCCGGTGCCACAGGCCCAGAGCCTCCTGGGCTCCAGCAGCACAGGGGGTGTTATCCACGGGGCTGGAGCAGAGTGTAGCAAGGCTGGTCAACCCCATGGCCCCGGGCCTCCCACGTCTCTAACGGTTCACACCTGACCCGTCCCATCCTGCCCACTCCCGCCGTGGCACCCACTGGTCTGCTGGGCCTCTAGGCTCTCCCTGTTCTGGATGTTTCATGTTAATGGGGCTACGTCGCGTGACCTCACGTGTGGTTCCTCTGAGCGTAGTGCTTTCCAGGGCAACCGTGTCACAGTGCAGATGGACGCACGGACGGCGGTGAGCCGTGAGCGCCAGGCACAGGTCCAGTTGTGGACGGAGGTTTGCATTTCTCCTGGGTCCACATCTATGGTGCCCCCATAGGGCGCCTGAGGCTCGCCCCGTCAGGCTGCCATTCTGGGAAGAGGACTGGGGGGAGCCTCTGGCCCCCATACCACCGCCCATTCCCCTGGCACCTCAGCAGACACCTGGCCTCCTCTGAGATCTGG 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ACACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCGAGCCTACCCCTGGGAGCCCAGAGGCCGCCCCCAGAAACCCTGAGCCTACCCCCCGGGACCGGCTGTTTGGAGGCTCACAGGGGCCCCTCCCCTATGGCAGCACCCACGCTCTCAGGGTGAGGCTTCGAGGCCCTGGCGCACCTCAATGAAGACGTCGCCCACGATCTTGGCGGTCATGAGCACCAGCATGATGGGGAAGCCGTAGGTCACGTTGCTGGTGGCCTCCATCATGATGACGGTCAGGCTCAGTGTCATCCGCACAATCCCGCCTGCGGGAGCCATCATGAACCCCAGCACGTCCACCCTCCTGGCTCAGGGTCACGTGGCCACTGCCTTCTCTGCAGCACCCATCCCATCCACCTGCTCCCAGACCCTAGCCCCGCAAGGACAGCCATGGCCCCCTCCAGACCCCGTGGAGCTCCCCACCCATCGGGCAAGAGCTGGGACATACCCAGCTGGGCAGCAGCTCCCATCAGGGCGTATTTGCCGGGGTCCGCCCAGATCTGTGGGAGGTGACACGGAGGAGGTGTCAGTGTGGTGGCAGGCCCAAACCCACCAAGATACACAGACGGAGGAGGCCCTGCCCAGGCCCAGCAGCCCCACAGCCAGGAACAAACCTCGTGGCCGCGTACATACACACAGAACAACCTAGCACAGTACACCCTGCTGCGGAGGCTGCATCCTTGGCCTGAACCAGGCGCTCAGCACCCGAGCAACAGGGGAGTGGCAGGCATGGAGGATGCAGAGGGCACAGTCACCACGCAGCAGCCCAGGCCAACTAGGGAGCACCGTCCAGCATGAGGAGTGAAACCCCGGCACACACGACACAGAGAGCCCCGGGAACATCAGGCTGGGCCACAGAACCCAGGCATGGAGGCTGCAGAAAGCGGGGCACGAGGGTCGGTGGGCACAGGGTTTCCATTCTGGGATGACGGAACATTCTAGAAGTGGTAGTGACGGCCGCACTGCCTCGTGAACGTGAGAAACGCCGCTGAACTGCCCTCTTTAAAACGATGAGTTTTACGGTATTTGAATCATGTTTCAATTTTAAAAACCAAACCAAACCCTTGTGCGGAGGGAGATGGGCAGAGCACACGGGCCTGGGGAGCAGGAGTGGGCGCTTCCTGCCGGGGATGAGAAGCATGGCCGGGGGCTTCCTGCCAGGGCCTCTTACAGGTTTTCAGTCTTATTTAAGCGACTGAAATGAGAAACAGAAGACACATAAGAGAACCCAGTCCCAGCAGAGGCAGGCAGAGAAGGAAGGCCTGCGGGGGCTGAGGTCTGGAGGGCAGTGTATGCCGCTCTGGCCCCCGGCCTCACAGAGAGCAGCCCTGGCCGGACATCCACCCCATGGAGTCTAGAAACAGCTCTGCAGCAGCCCACAATCACCTCTGCTTTTCATCACATTCTCAAGAATAAGGACACGAGCCTCCGCCCCCTACCTTCGCCTGGTCCAGACTCCACACATGGGCTGCGCTGCCACAGTACACGCTGCCACCACAGCAGGACAACGCCCACGGCCCGTGAACCACGCGAGGACAACGCCCACGGCCCGTGAACCACGTGAGGTGCGACACTTTTGTCCTGCCCTGGGACTTCTGCTCCGGCCCGCGATGCCGCAAGACCTGGCTCAGCTGCAGGGCCCCACAGCCTCCCCTCCGGCCCCACTCACCGCCGCCCCCGTGAGGTAGGACAGGGAGATCCCAAAGAGCCGGCCCCAGGCAGCCGCGATGAGCAGGGACGGGATGAAGACCCCGGCAGACACCGTGAGCCCGTAGGTCCAGCAGGCCAGGAAGAAGTAGACCAGCGTGAACAGGCCGAGGGTCAGGGGGTTGTAGGAGCCTAGGAGAGAAGAGGGGCTGACGGGGCCTCCACGACTCCCGCCTCCGCAGGACTGCCCTGCCCCGCTGCCCAGTCTCGGGCCTCACAGTCACCTTCCAGGAGCCCAGCAACCTGAGCTCCCGAGCCCAGCGGTCCCCAGAAGGCTCCCTGTTCTCAGCCTCCCTGGGAAGCAGAAAGGCTAAAAGGATCCCATGGGGAGGCCACAGGGGAAGAGGCTCTGCGGGGCCCTGATGCCAGCAGAAGCAGGAGCCGCGTCCAGCGGGGCGGCCCAGCTGGGTCTAGCAGCGCCAGGTCTACACTCCATGGGTGTGCACCGTGGTGCAGCTCGCAGCCTGGCTCCGGGAAGAGGGTGCCCCCCACAGCCTGGGGTTCCTTTCCTGGAGCAGGCAGCACTGTACTGCGTGCAGGGCGGGTGAGACCGCCAGGGACACAACTGCAGAGGTGAAAGGCCGGCACTCCAAGGTCGCGGTCTGCGCTTCCGTGAAACACTTGTGGTCGAGCGAGGCCAGGCCGTGGTCTTGGTGTGGGAGTCACCAGGCTGGGTTTTCTTTTGTTTTTTGAGAGAGGGTCTCGCTGTGTCACCCAGGCTGGTATGCAGTGATGTAATCACAGCTCATTGTGGCCTCAACCTTCTGGGCTCAAGCAATCCTCCCGGCCCAGCCTCCCAAGTACCTGGGACTGTGGGTGTACTACCGTAGCCAGATAATGTTGCTTTTTTGCAAAGACAGAGTCTCGCTAAGTTGCCCAGGCTGGTCTTAACCTCCTAGGCTCAAGTGATCCTCCTGCCTTGGTCTCTCCAAGTGCTGGGATTACAGGAGTGAGTCCCTGCTATGATCCATGCTAGGGATGACCCCCCAGCCCAGGGCTGCAACCTCAGCCCACAGGGGACACTCAGCCAGAAGGCATCACCCAGGCCCTGATCCCAGGGCCTGCCCAGCGGCACTGCCCACACACACCTGGCGGGTCGTGGAAGAGGCTCACCACGCTCTTCTCCGGGGTGTTGAAGAAGGCCGCAGCCATGGAGTTGTACTCGCCATCTGCACAAAAGAGCTGTGGGGTCGGGAGAGAGCACACGTTGGGAGGGGAGATGAGCTGGTGGGCTGCAGGCACAAACCTGGTGTCGCCGTGAGAGGCCGTGTACCCTGTGCCTGGCCAGCATCAGGCGCGAAACCACACGATCCTGCCATTGGGTCAGGGCCACGGTCACAGAGGGCAAGGAGGACACACAAGGCCCAAGCCATGGTCACGGAGGGAAAGGAGGACACACACGGCCTAGGCCCAGCAGGGGGCCGTGTCTAGCCCTGGGGGGTGGGTTAGCAGGACCATGGGCTGAGACGCTGTCCATCCCTGGTGCCGGGGAAGGTGGGCCCAGGCGCTCACATGAGCTCCTAGAAGAGGCTGTTGGCGCCCCGGTGCCACAGGCCCAGAGCCTCCTGGGCTCCAGCAGCACAGGGGGTGTTATCCACGGGGCTGGAGCAGAGTGTAGCAAGGCTGGTCAACCCCATGGCCCCGGGCCTCCCACGTCTCTAACGGTTCACACCTGACCCGTCCCATCCTGCCCACTCCCGCCGTGGCACCCACTGGTCTGCTGGGCCTCTAGGCTCTCCCTGTTCTGGATGTTTCATGTTAATGGGGCTACGTCGCGTGACCTCACGTGTGGTTCCTCTGAGCGTAGTGCTTTCCAGGGCAACCGTGTCACAGTGCAGATGGACGCACGGACGGCGGTGAGCCGTGAGCGCCAGGCACAGGTCCAGTTGTGGACGGAGGTTTGCATTTCTCCTGGGTCCACATCTATGGTGCCCCCATAGGGCGCCTGAGGCTCGCCCCGTCAGGCTGCCATTCTGGGAAGAGGACTGGGGGGAGCCTCTGGCCCCCATACCACCGCCCATTCCCCTGGCACCTCAGCAGACACCTGGCCTCCTCTGAGATCTGG 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Task1_train_22030 | Given a variant located on Chromosome 16 and affecting CLCN7 (chloride voltage-gated channel 7), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal recessive osteopetrosis 4 | CACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCGAGCCTACCCCTGGGAGCCCAGAGGCCGCCCCCAGAAACCCTGAGCCTACCCCCCGGGACCGGCTGTTTGGAGGCTCACAGGGGCCCCTCCCCTATGGCAGCACCCACGCTCTCAGGGTGAGGCTTCGAGGCCCTGGCGCACCTCAATGAAGACGTCGCCCACGATCTTGGCGGTCATGAGCACCAGCATGATGGGGAAGCCGTAGGTCACGTTGCTGGTGGCCTCCATCATGATGACGGTCAGGCTCAGTGTCATCCGCACAATCCCGCCTGCGGGAGCCATCATGAACCCCAGCACGTCCACCCTCCTGGCTCAGGGTCACGTGGCCACTGCCTTCTCTGCAGCACCCATCCCATCCACCTGCTCCCAGACCCTAGCCCCGCAAGGACAGCCATGGCCCCCTCCAGACCCCGTGGAGCTCCCCACCCATCGGGCAAGAGCTGGGACATACCCAGCTGGGCAGCAGCTCCCATCAGGGCGTATTTGCCGGGGTCCGCCCAGATCTGTGGGAGGTGACACGGAGGAGGTGTCAGTGTGGTGGCAGGCCCAAACCCACCAAGATACACAGACGGAGGAGGCCCTGCCCAGGCCCAGCAGCCCCACAGCCAGGAACAAACCTCGTGGCCGCGTACATACACACAGAACAACCTAGCACAGTACACCCTGCTGCGGAGGCTGCATCCTTGGCCTGAACCAGGCGCTCAGCACCCGAGCAACAGGGGAGTGGCAGGCATGGAGGATGCAGAGGGCACAGTCACCACGCAGCAGCCCAGGCCAACTAGGGAGCACCGTCCAGCATGAGGAGTGAAACCCCGGCACACACGACACAGAGAGCCCCGGGAACATCAGGCTGGGCCACAGAACCCAGGCATGGAGGCTGCAGAAAGCGGGGCACGAGGGTCGGTGGGCACAGGGTTTCCATTCTGGGATGACGGAACATTCTAGAAGTGGTAGTGACGGCCGCACTGCCTCGTGAACGTGAGAAACGCCGCTGAACTGCCCTCTTTAAAACGATGAGTTTTACGGTATTTGAATCATGTTTCAATTTTAAAAACCAAACCAAACCCTTGTGCGGAGGGAGATGGGCAGAGCACACGGGCCTGGGGAGCAGGAGTGGGCGCTTCCTGCCGGGGATGAGAAGCATGGCCGGGGGCTTCCTGCCAGGGCCTCTTACAGGTTTTCAGTCTTATTTAAGCGACTGAAATGAGAAACAGAAGACACATAAGAGAACCCAGTCCCAGCAGAGGCAGGCAGAGAAGGAAGGCCTGCGGGGGCTGAGGTCTGGAGGGCAGTGTATGCCGCTCTGGCCCCCGGCCTCACAGAGAGCAGCCCTGGCCGGACATCCACCCCATGGAGTCTAGAAACAGCTCTGCAGCAGCCCACAATCACCTCTGCTTTTCATCACATTCTCAAGAATAAGGACACGAGCCTCCGCCCCCTACCTTCGCCTGGTCCAGACTCCACACATGGGCTGCGCTGCCACAGTACACGCTGCCACCACAGCAGGACAACGCCCACGGCCCGTGAACCACGCGAGGACAACGCCCACGGCCCGTGAACCACGTGAGGTGCGACACTTTTGTCCTGCCCTGGGACTTCTGCTCCGGCCCGCGATGCCGCAAGACCTGGCTCAGCTGCAGGGCCCCACAGCCTCCCCTCCGGCCCCACTCACCGCCGCCCCCGTGAGGTAGGACAGGGAGATCCCAAAGAGCCGGCCCCAGGCAGCCCCGATGAGCAGGGACGGGATGAAGACCCCGGCAGACACCGTGAGCCCGTAGGTCCAGCAGGCCAGGAAGAAGTAGACCAGCGTGAACAGGCCGAGGGTCAGGGGGTTGTAGGAGCCTAGGAGAGAAGAGGGGCTGACGGGGCCTCCACGACTCCCGCCTCCGCAGGACTGCCCTGCCCCGCTGCCCAGTCTCGGGCCTCACAGTCACCTTCCAGGAGCCCAGCAACCTGAGCTCCCGAGCCCAGCGGTCCCCAGAAGGCTCCCTGTTCTCAGCCTCCCTGGGAAGCAGAAAGGCTAAAAGGATCCCATGGGGAGGCCACAGGGGAAGAGGCTCTGCGGGGCCCTGATGCCAGCAGAAGCAGGAGCCGCGTCCAGCGGGGCGGCCCAGCTGGGTCTAGCAGCGCCAGGTCTACACTCCATGGGTGTGCACCGTGGTGCAGCTCGCAGCCTGGCTCCGGGAAGAGGGTGCCCCCCACAGCCTGGGGTTCCTTTCCTGGAGCAGGCAGCACTGTACTGCGTGCAGGGCGGGTGAGACCGCCAGGGACACAACTGCAGAGGTGAAAGGCCGGCACTCCAAGGTCGCGGTCTGCGCTTCCGTGAAACACTTGTGGTCGAGCGAGGCCAGGCCGTGGTCTTGGTGTGGGAGTCACCAGGCTGGGTTTTCTTTTGTTTTTTGAGAGAGGGTCTCGCTGTGTCACCCAGGCTGGTATGCAGTGATGTAATCACAGCTCATTGTGGCCTCAACCTTCTGGGCTCAAGCAATCCTCCCGGCCCAGCCTCCCAAGTACCTGGGACTGTGGGTGTACTACCGTAGCCAGATAATGTTGCTTTTTTGCAAAGACAGAGTCTCGCTAAGTTGCCCAGGCTGGTCTTAACCTCCTAGGCTCAAGTGATCCTCCTGCCTTGGTCTCTCCAAGTGCTGGGATTACAGGAGTGAGTCCCTGCTATGATCCATGCTAGGGATGACCCCCCAGCCCAGGGCTGCAACCTCAGCCCACAGGGGACACTCAGCCAGAAGGCATCACCCAGGCCCTGATCCCAGGGCCTGCCCAGCGGCACTGCCCACACACACCTGGCGGGTCGTGGAAGAGGCTCACCACGCTCTTCTCCGGGGTGTTGAAGAAGGCCGCAGCCATGGAGTTGTACTCGCCATCTGCACAAAAGAGCTGTGGGGTCGGGAGAGAGCACACGTTGGGAGGGGAGATGAGCTGGTGGGCTGCAGGCACAAACCTGGTGTCGCCGTGAGAGGCCGTGTACCCTGTGCCTGGCCAGCATCAGGCGCGAAACCACACGATCCTGCCATTGGGTCAGGGCCACGGTCACAGAGGGCAAGGAGGACACACAAGGCCCAAGCCATGGTCACGGAGGGAAAGGAGGACACACACGGCCTAGGCCCAGCAGGGGGCCGTGTCTAGCCCTGGGGGGTGGGTTAGCAGGACCATGGGCTGAGACGCTGTCCATCCCTGGTGCCGGGGAAGGTGGGCCCAGGCGCTCACATGAGCTCCTAGAAGAGGCTGTTGGCGCCCCGGTGCCACAGGCCCAGAGCCTCCTGGGCTCCAGCAGCACAGGGGGTGTTATCCACGGGGCTGGAGCAGAGTGTAGCAAGGCTGGTCAACCCCATGGCCCCGGGCCTCCCACGTCTCTAACGGTTCACACCTGACCCGTCCCATCCTGCCCACTCCCGCCGTGGCACCCACTGGTCTGCTGGGCCTCTAGGCTCTCCCTGTTCTGGATGTTTCATGTTAATGGGGCTACGTCGCGTGACCTCACGTGTGGTTCCTCTGAGCGTAGTGCTTTCCAGGGCAACCGTGTCACAGTGCAGATGGACGCACGGACGGCGGTGAGCCGTGAGCGCCAGGCACAGGTCCAGTTGTGGACGGAGGTTTGCATTTCTCCTGGGTCCACATCTATGGTGCCCCCATAGGGCGCCTGAGGCTCGCCCCGTCAGGCTGCCATTCTGGGAAGAGGACTGGGGGGAGCCTCTGGCCCCCATACCACCGCCCATTCCCCTGGCACCTCAGCAGACACCTGGCCTCCTCTGAGATCTGGG | CACATGCCCGTCACACGCCACCAACTCCCACAGTTACCTCTGCGGGCTGGTGAGGTGTGAAGCCGCTGGACAGGAAACGCGGGGCTGCCTGGAGCCCGCAAGCCGTGCACCCTGCCCCTGTGCAACAAGAGGCCGCTGGACACCCTCCCCACCCACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCGAGCCTACCCCTGGGAGCCCAGAGGCCGCCCCCAGAAACCCTGAGCCTACCCCCCGGGACCGGCTGTTTGGAGGCTCACAGGGGCCCCTCCCCTATGGCAGCACCCACGCTCTCAGGGTGAGGCTTCGAGGCCCTGGCGCACCTCAATGAAGACGTCGCCCACGATCTTGGCGGTCATGAGCACCAGCATGATGGGGAAGCCGTAGGTCACGTTGCTGGTGGCCTCCATCATGATGACGGTCAGGCTCAGTGTCATCCGCACAATCCCGCCTGCGGGAGCCATCATGAACCCCAGCACGTCCACCCTCCTGGCTCAGGGTCACGTGGCCACTGCCTTCTCTGCAGCACCCATCCCATCCACCTGCTCCCAGACCCTAGCCCCGCAAGGACAGCCATGGCCCCCTCCAGACCCCGTGGAGCTCCCCACCCATCGGGCAAGAGCTGGGACATACCCAGCTGGGCAGCAGCTCCCATCAGGGCGTATTTGCCGGGGTCCGCCCAGATCTGTGGGAGGTGACACGGAGGAGGTGTCAGTGTGGTGGCAGGCCCAAACCCACCAAGATACACAGACGGAGGAGGCCCTGCCCAGGCCCAGCAGCCCCACAGCCAGGAACAAACCTCGTGGCCGCGTACATACACACAGAACAACCTAGCACAGTACACCCTGCTGCGGAGGCTGCATCCTTGGCCTGAACCAGGCGCTCAGCACCCGAGCAACAGGGGAGTGGCAGGCATGGAGGATGCAGAGGGCACAGTCACCACGCAGCAGCCCAGGCCAACTAGGGAGCACCGTCCAGCATGAGGAGTGAAACCCCGGCACACACGACACAGAGAGCCCCGGGAACATCAGGCTGGGCCACAGAACCCAGGCATGGAGGCTGCAGAAAGCGGGGCACGAGGGTCGGTGGGCACAGGGTTTCCATTCTGGGATGACGGAACATTCTAGAAGTGGTAGTGACGGCCGCACTGCCTCGTGAACGTGAGAAACGCCGCTGAACTGCCCTCTTTAAAACGATGAGTTTTACGGTATTTGAATCATGTTTCAATTTTAAAAACCAAACCAAACCCTTGTGCGGAGGGAGATGGGCAGAGCACACGGGCCTGGGGAGCAGGAGTGGGCGCTTCCTGCCGGGGATGAGAAGCATGGCCGGGGGCTTCCTGCCAGGGCCTCTTACAGGTTTTCAGTCTTATTTAAGCGACTGAAATGAGAAACAGAAGACACATAAGAGAACCCAGTCCCAGCAGAGGCAGGCAGAGAAGGAAGGCCTGCGGGGGCTGAGGTCTGGAGGGCAGTGTATGCCGCTCTGGCCCCCGGCCTCACAGAGAGCAGCCCTGGCCGGACATCCACCCCATGGAGTCTAGAAACAGCTCTGCAGCAGCCCACAATCACCTCTGCTTTTCATCACATTCTCAAGAATAAGGACACGAGCCTCCGCCCCCTACCTTCGCCTGGTCCAGACTCCACACATGGGCTGCGCTGCCACAGTACACGCTGCCACCACAGCAGGACAACGCCCACGGCCCGTGAACCACGCGAGGACAACGCCCACGGCCCGTGAACCACGTGAGGTGCGACACTTTTGTCCTGCCCTGGGACTTCTGCTCCGGCCCGCGATGCCGCAAGACCTGGCTCAGCTGCAGGGCCCCACAGCCTCCCCTCCGGCCCCACTCACCGCCGCCCCCGTGAGGTAGGACAGGGAGATCCCAAAGAGCCGGCCCCAGGCAGCCCTGATGAGCAGGGACGGGATGAAGACCCCGGCAGACACCGTGAGCCCGTAGGTCCAGCAGGCCAGGAAGAAGTAGACCAGCGTGAACAGGCCGAGGGTCAGGGGGTTGTAGGAGCCTAGGAGAGAAGAGGGGCTGACGGGGCCTCCACGACTCCCGCCTCCGCAGGACTGCCCTGCCCCGCTGCCCAGTCTCGGGCCTCACAGTCACCTTCCAGGAGCCCAGCAACCTGAGCTCCCGAGCCCAGCGGTCCCCAGAAGGCTCCCTGTTCTCAGCCTCCCTGGGAAGCAGAAAGGCTAAAAGGATCCCATGGGGAGGCCACAGGGGAAGAGGCTCTGCGGGGCCCTGATGCCAGCAGAAGCAGGAGCCGCGTCCAGCGGGGCGGCCCAGCTGGGTCTAGCAGCGCCAGGTCTACACTCCATGGGTGTGCACCGTGGTGCAGCTCGCAGCCTGGCTCCGGGAAGAGGGTGCCCCCCACAGCCTGGGGTTCCTTTCCTGGAGCAGGCAGCACTGTACTGCGTGCAGGGCGGGTGAGACCGCCAGGGACACAACTGCAGAGGTGAAAGGCCGGCACTCCAAGGTCGCGGTCTGCGCTTCCGTGAAACACTTGTGGTCGAGCGAGGCCAGGCCGTGGTCTTGGTGTGGGAGTCACCAGGCTGGGTTTTCTTTTGTTTTTTGAGAGAGGGTCTCGCTGTGTCACCCAGGCTGGTATGCAGTGATGTAATCACAGCTCATTGTGGCCTCAACCTTCTGGGCTCAAGCAATCCTCCCGGCCCAGCCTCCCAAGTACCTGGGACTGTGGGTGTACTACCGTAGCCAGATAATGTTGCTTTTTTGCAAAGACAGAGTCTCGCTAAGTTGCCCAGGCTGGTCTTAACCTCCTAGGCTCAAGTGATCCTCCTGCCTTGGTCTCTCCAAGTGCTGGGATTACAGGAGTGAGTCCCTGCTATGATCCATGCTAGGGATGACCCCCCAGCCCAGGGCTGCAACCTCAGCCCACAGGGGACACTCAGCCAGAAGGCATCACCCAGGCCCTGATCCCAGGGCCTGCCCAGCGGCACTGCCCACACACACCTGGCGGGTCGTGGAAGAGGCTCACCACGCTCTTCTCCGGGGTGTTGAAGAAGGCCGCAGCCATGGAGTTGTACTCGCCATCTGCACAAAAGAGCTGTGGGGTCGGGAGAGAGCACACGTTGGGAGGGGAGATGAGCTGGTGGGCTGCAGGCACAAACCTGGTGTCGCCGTGAGAGGCCGTGTACCCTGTGCCTGGCCAGCATCAGGCGCGAAACCACACGATCCTGCCATTGGGTCAGGGCCACGGTCACAGAGGGCAAGGAGGACACACAAGGCCCAAGCCATGGTCACGGAGGGAAAGGAGGACACACACGGCCTAGGCCCAGCAGGGGGCCGTGTCTAGCCCTGGGGGGTGGGTTAGCAGGACCATGGGCTGAGACGCTGTCCATCCCTGGTGCCGGGGAAGGTGGGCCCAGGCGCTCACATGAGCTCCTAGAAGAGGCTGTTGGCGCCCCGGTGCCACAGGCCCAGAGCCTCCTGGGCTCCAGCAGCACAGGGGGTGTTATCCACGGGGCTGGAGCAGAGTGTAGCAAGGCTGGTCAACCCCATGGCCCCGGGCCTCCCACGTCTCTAACGGTTCACACCTGACCCGTCCCATCCTGCCCACTCCCGCCGTGGCACCCACTGGTCTGCTGGGCCTCTAGGCTCTCCCTGTTCTGGATGTTTCATGTTAATGGGGCTACGTCGCGTGACCTCACGTGTGGTTCCTCTGAGCGTAGTGCTTTCCAGGGCAACCGTGTCACAGTGCAGATGGACGCACGGACGGCGGTGAGCCGTGAGCGCCAGGCACAGGTCCAGTTGTGGACGGAGGTTTGCATTTCTCCTGGGTCCACATCTATGGTGCCCCCATAGGGCGCCTGAGGCTCGCCCCGTCAGGCTGCCATTCTGGGAAGAGGACTGGGGGGAGCCTCTGGCCCCCATACCACCGCCCATTCCCCTGGCACCTCAGCAGACACCTGGCCTCCTCTGAGATCTGGG 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Task1_train_22031 | This alteration in CLCN7 (chloride voltage-gated channel 7) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal dominant osteopetrosis 2 | GCATACACAGCCTTTCTTTCGGCTGTGGCCTAGGAGTGTAAACCCCATTCCACCACGTCCGCTTTCAAAGGGCCTGTGTGGCCACGCCTGCCAACGCGATATGCAATGCGGTTTCTCCTCACCTGATTCGAAACATGGTCAGCCAGTAGTTCAAGGCATTGAACACTGCTCCAAGCACACCGCCTGCGAACAGGGGAAAGGCCAGTCAGCGACACCGGAGGAAAAGTGCGGGCCTCCGCCCGCCGGCTCCCAGATGGCAGGAGAAGCTGGAGGGTTTGCAGAGGGAAGGGGACGGCAGGGGGCTAGGGGGTCCTGGTAAGATGCTTCCTCCACATCATCACACCCTGAGGGCTGGGGGAGCTGTTTCTCAAAGGCTCTGCCTTCCTTCCAGGGCAAAGGTGTCCAGCAGAGCAATAAATACTGGTGGGAGCAATTCTATCTCTTACAGGAAATCCCATCCATCCCTGCAGCCCTGTGGTTTTTGCCAACAGAGATAAACAACGGGAAGCCACAGAAGCGAAGCTTTGGGCTCCCCACTCCCCACGTGTACTGCCCATGGAAGAATCTGGAGGCCCCCGGGTGGCCCTGGGATGAGGGCAGGCTCCAGGGAGCCACAGCCTCCAGTCCTCGTCTCTATGGCCACGTCACAGCTGAGCCAGGCCCGCAGGCCGTCCCTGCGGTGCTGGGAGAAGCCCTTACCCACCACGCCCATGGCGATGAAGACCGGGATCTCGTGGATCGTGTAGGCCATTTTCTGTGCAGAGAGAGGGAGAAGGCAGAGGATGTGAGGGAAAAGGCCCACAGCTCCTTTCTGCTGAAACTCAAGGACCACCATCTTAAGAGAGCTGTCCCCACAGAGAGCCTTCCCGCCCTTCCACGCAGGCTGCGGAAGTCCACAGGGGAGAAACACACTGGGTGTTCTGAGCAGGCCTGGCCCCTGCCTGGCGGGGTGGCCAGCGAGGCTCTCAGAGACCCTGCCACCCTCAGCACCCGGGGCGGGGAGGGCCCCAAGCACTGGGAACATAGCCCGTGGTCCCCCAGTTTCCTGCGCACAGAGCCGCCCTATCGATGGCACGGAGAGTCTCCCCAGCCCAGGCCCCAGGCTACCCTGGAAACTAGGCCTGAGCCCACCTGCCCCGAGAGCGGCTGCTGCACGTGCCCCCAGGCCGTGGGAGGCCCCATGCACGCAGCAACTGTGTGACATCCCAGGTGCCCTGCTGGTCACATGGTGCCCTGACCTGAGGGGCAGCTTGGGGTGTCTTCCTGCAGCCCCTCGGGGCCCTGGAGCTTACACAAGAGCTCTCAGCTCCACAGCTATCAACCAGAGTTTTCTAAAGGACCAAATTCTCAACCTGGGCCTTAAGCAAACAGGGTCCTGGACCAGGATACGAGGTGGGCGAGGTGGGCGATGGGGCAGGTTACCTCCGAGTCAAACCTTCCGAAGTTGATGAGGCCTGGGCTGGACAGGTCCCACATGTTCCCGTGGTAAATGCTCAGAACAAAATTCAGGGTGAACGTGGAGATCATGGAAGCAAAGAACTGCGGCAGAGGGCAGGAAACCAGCGCCCTCAGAGCCACGCTCCCAGCCCAGGGCTCACGGACCAGCAGGGACCATCGCCCCTCCTGTCAGCCCCGGGGCCAGGAGTCTGCAGACCCCGCCCAAGGCAGAAGGGAAGGGGCTGGAGCCAGGGGTGGGCGCACTGTGCGGGCAAGGAGCGGCCCAGCCCTCTCTGGACTTGCCAGTGGAGAGCAAGAGGGGAAGGTGGGGCAGGGCTGGGTTCCCGGCTGTTTGATCCCCTACCCGGGAGCCACCCAGGGCTGGCAATGGTGCCCAGGACCAAGGGCGAACTGGGCAGCAAAGGCAGGACCGCTGCTTTGGGCAGGACCAAGGCCTGACAGACCCACAGGGGGTCCAGCTCCAGCCGCAGCTCGATGGGTGGCCCCAAGGTGGACCCCATGGTGGGAAATGAGAGCGCAGCATGCACCCTGATCAGGAGGCAGCCATCAGCAGGAACTTACGATCCTCCAGGTCAGGAACTGGTTCCAGAAGGACGCACCCTCCTCCAAGCTGAACAGGACCCCACCTGGAAGGCAGGCGGCCGGCTCGGGTGCCAGCTGGACACAGGGCACCATGCCCACCACCAACTCCCTCCCCCAGGCTCCAGGGAACCCAGACCACGTCAGAAAGAAGCTAATGGGGTGGGCCCCAGCCACACAGAGAGGGACCCTGAGGGAGGTCTGAGGGCTGGACCCAAGTACACTGCCGGCCGCTTCCAAATGCCCCGGCCGTGACTCCAAGCCTCTGCCACCCTCAGCGGGCACTGGGCCTACAGAGAGGAGACCGTTCCTTCCAACACACAGGGCGAGGGCAAAGCATTGGACCCGGTGCGGCCCTCCTCACCCACGGGGGCTCCAAACGCCGCTGACACTCCGGCCGCAGCCCCTGCGGAGACGAAGTCCCGCTTCTCTGTGTCTCTGCGGAAGTACTCGAAGATCTGCAACAGGGACAGACCAGGGTCGGGGCAGGTTCCTTGAGGGCACGGCTCTCAGAAAGGGAGAGCAACTGCCAGGACAGGGGCTGTGCAGGGGAAGGGGCTTTCAGGACAACCGAGTCAGCAGCTCTGATTCCTGAAGAGCACCGTGCTGCAGACCACGGCAAGAGACAGCAGGGTCAGCACCACCACCGGCAGCCCAGGGAAACACGCAAACACCCAGCCAGGAGCTCCACTTTCCAGCGCACGCAAGATTCCAAAAACCTCTACCCTCTAACGAAAAGCGCACGGATGGAAACCCAGCCTTGCTGTTCTTTGTCCTGCGGGACGCTGCCTGCCTCTAAATTCACACATGGCCGGCGCGGTGCCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCCGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAACTTAGCCAGGCGTGGTGGCGGGCACCTATAATCCCAGCTACTCGGGATGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCAACAGAGAGACTCCATCTCAAAAAAAAAAAAAAAATACAATCACACACAAATGCAGCTCAATCCCCATCAACATGCTGGGGACTTTTTTGGGGAAAAAGTGTTCCAAAGTGTGTCTTGACAAATAAACAACAGGTGGGCACACTTGGTCTCAGGTTCTGCACTCCTCTGAGAAGCCGCTTGGAGCCACAGACCCTCCCACGGGAAACACTGATGCACGTGTGGCAGGGGACCCAAGGAGGGAAGCAGCGGGCCGTAGGGAGGCCTTGCCGGGCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCCGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTT 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GCATACACAGCCTTTCTTTCGGCTGTGGCCTAGGAGTGTAAACCCCATTCCACCACGTCCGCTTTCAAAGGGCCTGTGTGGCCACGCCTGCCAACGCGATATGCAATGCGGTTTCTCCTCACCTGATTCGAAACATGGTCAGCCAGTAGTTCAAGGCATTGAACACTGCTCCAAGCACACCGCCTGCGAACAGGGGAAAGGCCAGTCAGCGACACCGGAGGAAAAGTGCGGGCCTCCGCCCGCCGGCTCCCAGATGGCAGGAGAAGCTGGAGGGTTTGCAGAGGGAAGGGGACGGCAGGGGGCTAGGGGGTCCTGGTAAGATGCTTCCTCCACATCATCACACCCTGAGGGCTGGGGGAGCTGTTTCTCAAAGGCTCTGCCTTCCTTCCAGGGCAAAGGTGTCCAGCAGAGCAATAAATACTGGTGGGAGCAATTCTATCTCTTACAGGAAATCCCATCCATCCCTGCAGCCCTGTGGTTTTTGCCAACAGAGATAAACAACGGGAAGCCACAGAAGCGAAGCTTTGGGCTCCCCACTCCCCACGTGTACTGCCCATGGAAGAATCTGGAGGCCCCCGGGTGGCCCTGGGATGAGGGCAGGCTCCAGGGAGCCACAGCCTCCAGTCCTCGTCTCTATGGCCACGTCACAGCTGAGCCAGGCCCGCAGGCCGTCCCTGCGGTGCTGGGAGAAGCCCTTACCCACCACGCCCATGGCGATGAAGACCGGGATCTCGTGGATCGTGTAGGCCATTTTCTGTGCAGAGAGAGGGAGAAGGCAGAGGATGTGAGGGAAAAGGCCCACAGCTCCTTTCTGCTGAAACTCAAGGACCACCATCTTAAGAGAGCTGTCCCCACAGAGAGCCTTCCCGCCCTTCCACGCAGGCTGCGGAAGTCCACAGGGGAGAAACACACTGGGTGTTCTGAGCAGGCCTGGCCCCTGCCTGGCGGGGTGGCCAGCGAGGCTCTCAGAGACCCTGCCACCCTCAGCACCCGGGGCGGGGAGGGCCCCAAGCACTGGGAACATAGCCCGTGGTCCCCCAGTTTCCTGCGCACAGAGCCGCCCTATCGATGGCACGGAGAGTCTCCCCAGCCCAGGCCCCAGGCTACCCTGGAAACTAGGCCTGAGCCCACCTGCCCCGAGAGCGGCTGCTGCACGTGCCCCCAGGCCGTGGGAGGCCCCATGCACGCAGCAACTGTGTGACATCCCAGGTGCCCTGCTGGTCACATGGTGCCCTGACCTGAGGGGCAGCTTGGGGTGTCTTCCTGCAGCCCCTCGGGGCCCTGGAGCTTACACAAGAGCTCTCAGCTCCACAGCTATCAACCAGAGTTTTCTAAAGGACCAAATTCTCAACCTGGGCCTTAAGCAAACAGGGTCCTGGACCAGGATACGAGGTGGGCGAGGTGGGCGATGGGGCAGGTTACCTCCGAGTCAAACCTTCCGAAGTTGATGAGGCCTGGGCTGGACAGGTCCCACATGTTCCCGTGGTAAATGCTCAGAACAAAATTCAGGGTGAACGTGGAGATCATGGAAGCAAAGAACTGCGGCAGAGGGCAGGAAACCAGCGCCCTCAGAGCCACGCTCCCAGCCCAGGGCTCACGGACCAGCAGGGACCATCGCCCCTCCTGTCAGCCCCGGGGCCAGGAGTCTGCAGACCCCGCCCAAGGCAGAAGGGAAGGGGCTGGAGCCAGGGGTGGGCGCACTGTGCGGGCAAGGAGCGGCCCAGCCCTCTCTGGACTTGCCAGTGGAGAGCAAGAGGGGAAGGTGGGGCAGGGCTGGGTTCCCGGCTGTTTGATCCCCTACCCGGGAGCCACCCAGGGCTGGCAATGGTGCCCAGGACCAAGGGCGAACTGGGCAGCAAAGGCAGGACCGCTGCTTTGGGCAGGACCAAGGCCTGACAGACCCACAGGGGGTCCAGCTCCAGCCGCAGCTCGATGGGTGGCCCCAAGGTGGACCCCATGGTGGGAAATGAGAGCGCAGCATGCACCCTGATCAGGAGGCAGCCATCAGCAGGAACTTACGATCCTCCAGGTCAGGAACTGGTTCCAGAGGGACGCACCCTCCTCCAAGCTGAACAGGACCCCACCTGGAAGGCAGGCGGCCGGCTCGGGTGCCAGCTGGACACAGGGCACCATGCCCACCACCAACTCCCTCCCCCAGGCTCCAGGGAACCCAGACCACGTCAGAAAGAAGCTAATGGGGTGGGCCCCAGCCACACAGAGAGGGACCCTGAGGGAGGTCTGAGGGCTGGACCCAAGTACACTGCCGGCCGCTTCCAAATGCCCCGGCCGTGACTCCAAGCCTCTGCCACCCTCAGCGGGCACTGGGCCTACAGAGAGGAGACCGTTCCTTCCAACACACAGGGCGAGGGCAAAGCATTGGACCCGGTGCGGCCCTCCTCACCCACGGGGGCTCCAAACGCCGCTGACACTCCGGCCGCAGCCCCTGCGGAGACGAAGTCCCGCTTCTCTGTGTCTCTGCGGAAGTACTCGAAGATCTGCAACAGGGACAGACCAGGGTCGGGGCAGGTTCCTTGAGGGCACGGCTCTCAGAAAGGGAGAGCAACTGCCAGGACAGGGGCTGTGCAGGGGAAGGGGCTTTCAGGACAACCGAGTCAGCAGCTCTGATTCCTGAAGAGCACCGTGCTGCAGACCACGGCAAGAGACAGCAGGGTCAGCACCACCACCGGCAGCCCAGGGAAACACGCAAACACCCAGCCAGGAGCTCCACTTTCCAGCGCACGCAAGATTCCAAAAACCTCTACCCTCTAACGAAAAGCGCACGGATGGAAACCCAGCCTTGCTGTTCTTTGTCCTGCGGGACGCTGCCTGCCTCTAAATTCACACATGGCCGGCGCGGTGCCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCCGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAACTTAGCCAGGCGTGGTGGCGGGCACCTATAATCCCAGCTACTCGGGATGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCAACAGAGAGACTCCATCTCAAAAAAAAAAAAAAAATACAATCACACACAAATGCAGCTCAATCCCCATCAACATGCTGGGGACTTTTTTGGGGAAAAAGTGTTCCAAAGTGTGTCTTGACAAATAAACAACAGGTGGGCACACTTGGTCTCAGGTTCTGCACTCCTCTGAGAAGCCGCTTGGAGCCACAGACCCTCCCACGGGAAACACTGATGCACGTGTGGCAGGGGACCCAAGGAGGGAAGCAGCGGGCCGTAGGGAGGCCTTGCCGGGCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCCGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTT 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Task1_train_22032 | This alteration occurs within gene CLCN7 (chloride voltage-gated channel 7) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | CTTTCGGCTGTGGCCTAGGAGTGTAAACCCCATTCCACCACGTCCGCTTTCAAAGGGCCTGTGTGGCCACGCCTGCCAACGCGATATGCAATGCGGTTTCTCCTCACCTGATTCGAAACATGGTCAGCCAGTAGTTCAAGGCATTGAACACTGCTCCAAGCACACCGCCTGCGAACAGGGGAAAGGCCAGTCAGCGACACCGGAGGAAAAGTGCGGGCCTCCGCCCGCCGGCTCCCAGATGGCAGGAGAAGCTGGAGGGTTTGCAGAGGGAAGGGGACGGCAGGGGGCTAGGGGGTCCTGGTAAGATGCTTCCTCCACATCATCACACCCTGAGGGCTGGGGGAGCTGTTTCTCAAAGGCTCTGCCTTCCTTCCAGGGCAAAGGTGTCCAGCAGAGCAATAAATACTGGTGGGAGCAATTCTATCTCTTACAGGAAATCCCATCCATCCCTGCAGCCCTGTGGTTTTTGCCAACAGAGATAAACAACGGGAAGCCACAGAAGCGAAGCTTTGGGCTCCCCACTCCCCACGTGTACTGCCCATGGAAGAATCTGGAGGCCCCCGGGTGGCCCTGGGATGAGGGCAGGCTCCAGGGAGCCACAGCCTCCAGTCCTCGTCTCTATGGCCACGTCACAGCTGAGCCAGGCCCGCAGGCCGTCCCTGCGGTGCTGGGAGAAGCCCTTACCCACCACGCCCATGGCGATGAAGACCGGGATCTCGTGGATCGTGTAGGCCATTTTCTGTGCAGAGAGAGGGAGAAGGCAGAGGATGTGAGGGAAAAGGCCCACAGCTCCTTTCTGCTGAAACTCAAGGACCACCATCTTAAGAGAGCTGTCCCCACAGAGAGCCTTCCCGCCCTTCCACGCAGGCTGCGGAAGTCCACAGGGGAGAAACACACTGGGTGTTCTGAGCAGGCCTGGCCCCTGCCTGGCGGGGTGGCCAGCGAGGCTCTCAGAGACCCTGCCACCCTCAGCACCCGGGGCGGGGAGGGCCCCAAGCACTGGGAACATAGCCCGTGGTCCCCCAGTTTCCTGCGCACAGAGCCGCCCTATCGATGGCACGGAGAGTCTCCCCAGCCCAGGCCCCAGGCTACCCTGGAAACTAGGCCTGAGCCCACCTGCCCCGAGAGCGGCTGCTGCACGTGCCCCCAGGCCGTGGGAGGCCCCATGCACGCAGCAACTGTGTGACATCCCAGGTGCCCTGCTGGTCACATGGTGCCCTGACCTGAGGGGCAGCTTGGGGTGTCTTCCTGCAGCCCCTCGGGGCCCTGGAGCTTACACAAGAGCTCTCAGCTCCACAGCTATCAACCAGAGTTTTCTAAAGGACCAAATTCTCAACCTGGGCCTTAAGCAAACAGGGTCCTGGACCAGGATACGAGGTGGGCGAGGTGGGCGATGGGGCAGGTTACCTCCGAGTCAAACCTTCCGAAGTTGATGAGGCCTGGGCTGGACAGGTCCCACATGTTCCCGTGGTAAATGCTCAGAACAAAATTCAGGGTGAACGTGGAGATCATGGAAGCAAAGAACTGCGGCAGAGGGCAGGAAACCAGCGCCCTCAGAGCCACGCTCCCAGCCCAGGGCTCACGGACCAGCAGGGACCATCGCCCCTCCTGTCAGCCCCGGGGCCAGGAGTCTGCAGACCCCGCCCAAGGCAGAAGGGAAGGGGCTGGAGCCAGGGGTGGGCGCACTGTGCGGGCAAGGAGCGGCCCAGCCCTCTCTGGACTTGCCAGTGGAGAGCAAGAGGGGAAGGTGGGGCAGGGCTGGGTTCCCGGCTGTTTGATCCCCTACCCGGGAGCCACCCAGGGCTGGCAATGGTGCCCAGGACCAAGGGCGAACTGGGCAGCAAAGGCAGGACCGCTGCTTTGGGCAGGACCAAGGCCTGACAGACCCACAGGGGGTCCAGCTCCAGCCGCAGCTCGATGGGTGGCCCCAAGGTGGACCCCATGGTGGGAAATGAGAGCGCAGCATGCACCCTGATCAGGAGGCAGCCATCAGCAGGAACTTACGATCCTCCAGGTCAGGAACTGGTTCCAGAAGGACGCACCCTCCTCCAAGCTGAACAGGACCCCACCTGGAAGGCAGGCGGCCGGCTCGGGTGCCAGCTGGACACAGGGCACCATGCCCACCACCAACTCCCTCCCCCAGGCTCCAGGGAACCCAGACCACGTCAGAAAGAAGCTAATGGGGTGGGCCCCAGCCACACAGAGAGGGACCCTGAGGGAGGTCTGAGGGCTGGACCCAAGTACACTGCCGGCCGCTTCCAAATGCCCCGGCCGTGACTCCAAGCCTCTGCCACCCTCAGCGGGCACTGGGCCTACAGAGAGGAGACCGTTCCTTCCAACACACAGGGCGAGGGCAAAGCATTGGACCCGGTGCGGCCCTCCTCACCCACGGGGGCTCCAAACGCCGCTGACACTCCGGCCGCAGCCCCTGCGGAGACGAAGTCCCGCTTCTCTGTGTCTCTGCGGAAGTACTCGAAGATCTGCAACAGGGACAGACCAGGGTCGGGGCAGGTTCCTTGAGGGCACGGCTCTCAGAAAGGGAGAGCAACTGCCAGGACAGGGGCTGTGCAGGGGAAGGGGCTTTCAGGACAACCGAGTCAGCAGCTCTGATTCCTGAAGAGCACCGTGCTGCAGACCACGGCAAGAGACAGCAGGGTCAGCACCACCACCGGCAGCCCAGGGAAACACGCAAACACCCAGCCAGGAGCTCCACTTTCCAGCGCACGCAAGATTCCAAAAACCTCTACCCTCTAACGAAAAGCGCACGGATGGAAACCCAGCCTTGCTGTTCTTTGTCCTGCGGGACGCTGCCTGCCTCTAAATTCACACATGGCCGGCGCGGTGCCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCCGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAACTTAGCCAGGCGTGGTGGCGGGCACCTATAATCCCAGCTACTCGGGATGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCAACAGAGAGACTCCATCTCAAAAAAAAAAAAAAAATACAATCACACACAAATGCAGCTCAATCCCCATCAACATGCTGGGGACTTTTTTGGGGAAAAAGTGTTCCAAAGTGTGTCTTGACAAATAAACAACAGGTGGGCACACTTGGTCTCAGGTTCTGCACTCCTCTGAGAAGCCGCTTGGAGCCACAGACCCTCCCACGGGAAACACTGATGCACGTGTGGCAGGGGACCCAAGGAGGGAAGCAGCGGGCCGTAGGGAGGCCTTGCCGGGCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCCGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTTTGGACCTGAGCCGTA 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CTTTCGGCTGTGGCCTAGGAGTGTAAACCCCATTCCACCACGTCCGCTTTCAAAGGGCCTGTGTGGCCACGCCTGCCAACGCGATATGCAATGCGGTTTCTCCTCACCTGATTCGAAACATGGTCAGCCAGTAGTTCAAGGCATTGAACACTGCTCCAAGCACACCGCCTGCGAACAGGGGAAAGGCCAGTCAGCGACACCGGAGGAAAAGTGCGGGCCTCCGCCCGCCGGCTCCCAGATGGCAGGAGAAGCTGGAGGGTTTGCAGAGGGAAGGGGACGGCAGGGGGCTAGGGGGTCCTGGTAAGATGCTTCCTCCACATCATCACACCCTGAGGGCTGGGGGAGCTGTTTCTCAAAGGCTCTGCCTTCCTTCCAGGGCAAAGGTGTCCAGCAGAGCAATAAATACTGGTGGGAGCAATTCTATCTCTTACAGGAAATCCCATCCATCCCTGCAGCCCTGTGGTTTTTGCCAACAGAGATAAACAACGGGAAGCCACAGAAGCGAAGCTTTGGGCTCCCCACTCCCCACGTGTACTGCCCATGGAAGAATCTGGAGGCCCCCGGGTGGCCCTGGGATGAGGGCAGGCTCCAGGGAGCCACAGCCTCCAGTCCTCGTCTCTATGGCCACGTCACAGCTGAGCCAGGCCCGCAGGCCGTCCCTGCGGTGCTGGGAGAAGCCCTTACCCACCACGCCCATGGCGATGAAGACCGGGATCTCGTGGATCGTGTAGGCCATTTTCTGTGCAGAGAGAGGGAGAAGGCAGAGGATGTGAGGGAAAAGGCCCACAGCTCCTTTCTGCTGAAACTCAAGGACCACCATCTTAAGAGAGCTGTCCCCACAGAGAGCCTTCCCGCCCTTCCACGCAGGCTGCGGAAGTCCACAGGGGAGAAACACACTGGGTGTTCTGAGCAGGCCTGGCCCCTGCCTGGCGGGGTGGCCAGCGAGGCTCTCAGAGACCCTGCCACCCTCAGCACCCGGGGCGGGGAGGGCCCCAAGCACTGGGAACATAGCCCGTGGTCCCCCAGTTTCCTGCGCACAGAGCCGCCCTATCGATGGCACGGAGAGTCTCCCCAGCCCAGGCCCCAGGCTACCCTGGAAACTAGGCCTGAGCCCACCTGCCCCGAGAGCGGCTGCTGCACGTGCCCCCAGGCCGTGGGAGGCCCCATGCACGCAGCAACTGTGTGACATCCCAGGTGCCCTGCTGGTCACATGGTGCCCTGACCTGAGGGGCAGCTTGGGGTGTCTTCCTGCAGCCCCTCGGGGCCCTGGAGCTTACACAAGAGCTCTCAGCTCCACAGCTATCAACCAGAGTTTTCTAAAGGACCAAATTCTCAACCTGGGCCTTAAGCAAACAGGGTCCTGGACCAGGATACGAGGTGGGCGAGGTGGGCGATGGGGCAGGTTACCTCCGAGTCAAACCTTCCGAAGTTGATGAGGCCTGGGCTGGACAGGTCCCACATGTTCCCGTGGTAAATGCTCAGAACAAAATTCAGGGTGAACGTGGAGATCATGGAAGCAAAGAACTGCGGCAGAGGGCAGGAAACCAGCGCCCTCAGAGCCACGCTCCCAGCCCAGGGCTCACGGACCAGCAGGGACCATCGCCCCTCCTGTCAGCCCCGGGGCCAGGAGTCTGCAGACCCCGCCCAAGGCAGAAGGGAAGGGGCTGGAGCCAGGGGTGGGCGCACTGTGCGGGCAAGGAGCGGCCCAGCCCTCTCTGGACTTGCCAGTGGAGAGCAAGAGGGGAAGGTGGGGCAGGGCTGGGTTCCCGGCTGTTTGATCCCCTACCCGGGAGCCACCCAGGGCTGGCAATGGTGCCCAGGACCAAGGGCGAACTGGGCAGCAAAGGCAGGACCGCTGCTTTGGGCAGGACCAAGGCCTGACAGACCCACAGGGGGTCCAGCTCCAGCCGCAGCTCGATGGGTGGCCCCAAGGTGGACCCCATGGTGGGAAATGAGAGCGCAGCATGCACCCTGATCAGGAGGCAGCCATCAGCAGGAACTTACGATCCTCCAGGTCAGGAACTGGTTCCAGAAGGACGCACCCTCCTTCAAGCTGAACAGGACCCCACCTGGAAGGCAGGCGGCCGGCTCGGGTGCCAGCTGGACACAGGGCACCATGCCCACCACCAACTCCCTCCCCCAGGCTCCAGGGAACCCAGACCACGTCAGAAAGAAGCTAATGGGGTGGGCCCCAGCCACACAGAGAGGGACCCTGAGGGAGGTCTGAGGGCTGGACCCAAGTACACTGCCGGCCGCTTCCAAATGCCCCGGCCGTGACTCCAAGCCTCTGCCACCCTCAGCGGGCACTGGGCCTACAGAGAGGAGACCGTTCCTTCCAACACACAGGGCGAGGGCAAAGCATTGGACCCGGTGCGGCCCTCCTCACCCACGGGGGCTCCAAACGCCGCTGACACTCCGGCCGCAGCCCCTGCGGAGACGAAGTCCCGCTTCTCTGTGTCTCTGCGGAAGTACTCGAAGATCTGCAACAGGGACAGACCAGGGTCGGGGCAGGTTCCTTGAGGGCACGGCTCTCAGAAAGGGAGAGCAACTGCCAGGACAGGGGCTGTGCAGGGGAAGGGGCTTTCAGGACAACCGAGTCAGCAGCTCTGATTCCTGAAGAGCACCGTGCTGCAGACCACGGCAAGAGACAGCAGGGTCAGCACCACCACCGGCAGCCCAGGGAAACACGCAAACACCCAGCCAGGAGCTCCACTTTCCAGCGCACGCAAGATTCCAAAAACCTCTACCCTCTAACGAAAAGCGCACGGATGGAAACCCAGCCTTGCTGTTCTTTGTCCTGCGGGACGCTGCCTGCCTCTAAATTCACACATGGCCGGCGCGGTGCCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCCGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAACTTAGCCAGGCGTGGTGGCGGGCACCTATAATCCCAGCTACTCGGGATGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCAACAGAGAGACTCCATCTCAAAAAAAAAAAAAAAATACAATCACACACAAATGCAGCTCAATCCCCATCAACATGCTGGGGACTTTTTTGGGGAAAAAGTGTTCCAAAGTGTGTCTTGACAAATAAACAACAGGTGGGCACACTTGGTCTCAGGTTCTGCACTCCTCTGAGAAGCCGCTTGGAGCCACAGACCCTCCCACGGGAAACACTGATGCACGTGTGGCAGGGGACCCAAGGAGGGAAGCAGCGGGCCGTAGGGAGGCCTTGCCGGGCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCCGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTTTGGACCTGAGCCGTA 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Task1_train_22033 | A change on Chromosome 16 affects gene CLCN7 (chloride voltage-gated channel 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | CTTCCTTCCAGGGCAAAGGTGTCCAGCAGAGCAATAAATACTGGTGGGAGCAATTCTATCTCTTACAGGAAATCCCATCCATCCCTGCAGCCCTGTGGTTTTTGCCAACAGAGATAAACAACGGGAAGCCACAGAAGCGAAGCTTTGGGCTCCCCACTCCCCACGTGTACTGCCCATGGAAGAATCTGGAGGCCCCCGGGTGGCCCTGGGATGAGGGCAGGCTCCAGGGAGCCACAGCCTCCAGTCCTCGTCTCTATGGCCACGTCACAGCTGAGCCAGGCCCGCAGGCCGTCCCTGCGGTGCTGGGAGAAGCCCTTACCCACCACGCCCATGGCGATGAAGACCGGGATCTCGTGGATCGTGTAGGCCATTTTCTGTGCAGAGAGAGGGAGAAGGCAGAGGATGTGAGGGAAAAGGCCCACAGCTCCTTTCTGCTGAAACTCAAGGACCACCATCTTAAGAGAGCTGTCCCCACAGAGAGCCTTCCCGCCCTTCCACGCAGGCTGCGGAAGTCCACAGGGGAGAAACACACTGGGTGTTCTGAGCAGGCCTGGCCCCTGCCTGGCGGGGTGGCCAGCGAGGCTCTCAGAGACCCTGCCACCCTCAGCACCCGGGGCGGGGAGGGCCCCAAGCACTGGGAACATAGCCCGTGGTCCCCCAGTTTCCTGCGCACAGAGCCGCCCTATCGATGGCACGGAGAGTCTCCCCAGCCCAGGCCCCAGGCTACCCTGGAAACTAGGCCTGAGCCCACCTGCCCCGAGAGCGGCTGCTGCACGTGCCCCCAGGCCGTGGGAGGCCCCATGCACGCAGCAACTGTGTGACATCCCAGGTGCCCTGCTGGTCACATGGTGCCCTGACCTGAGGGGCAGCTTGGGGTGTCTTCCTGCAGCCCCTCGGGGCCCTGGAGCTTACACAAGAGCTCTCAGCTCCACAGCTATCAACCAGAGTTTTCTAAAGGACCAAATTCTCAACCTGGGCCTTAAGCAAACAGGGTCCTGGACCAGGATACGAGGTGGGCGAGGTGGGCGATGGGGCAGGTTACCTCCGAGTCAAACCTTCCGAAGTTGATGAGGCCTGGGCTGGACAGGTCCCACATGTTCCCGTGGTAAATGCTCAGAACAAAATTCAGGGTGAACGTGGAGATCATGGAAGCAAAGAACTGCGGCAGAGGGCAGGAAACCAGCGCCCTCAGAGCCACGCTCCCAGCCCAGGGCTCACGGACCAGCAGGGACCATCGCCCCTCCTGTCAGCCCCGGGGCCAGGAGTCTGCAGACCCCGCCCAAGGCAGAAGGGAAGGGGCTGGAGCCAGGGGTGGGCGCACTGTGCGGGCAAGGAGCGGCCCAGCCCTCTCTGGACTTGCCAGTGGAGAGCAAGAGGGGAAGGTGGGGCAGGGCTGGGTTCCCGGCTGTTTGATCCCCTACCCGGGAGCCACCCAGGGCTGGCAATGGTGCCCAGGACCAAGGGCGAACTGGGCAGCAAAGGCAGGACCGCTGCTTTGGGCAGGACCAAGGCCTGACAGACCCACAGGGGGTCCAGCTCCAGCCGCAGCTCGATGGGTGGCCCCAAGGTGGACCCCATGGTGGGAAATGAGAGCGCAGCATGCACCCTGATCAGGAGGCAGCCATCAGCAGGAACTTACGATCCTCCAGGTCAGGAACTGGTTCCAGAAGGACGCACCCTCCTCCAAGCTGAACAGGACCCCACCTGGAAGGCAGGCGGCCGGCTCGGGTGCCAGCTGGACACAGGGCACCATGCCCACCACCAACTCCCTCCCCCAGGCTCCAGGGAACCCAGACCACGTCAGAAAGAAGCTAATGGGGTGGGCCCCAGCCACACAGAGAGGGACCCTGAGGGAGGTCTGAGGGCTGGACCCAAGTACACTGCCGGCCGCTTCCAAATGCCCCGGCCGTGACTCCAAGCCTCTGCCACCCTCAGCGGGCACTGGGCCTACAGAGAGGAGACCGTTCCTTCCAACACACAGGGCGAGGGCAAAGCATTGGACCCGGTGCGGCCCTCCTCACCCACGGGGGCTCCAAACGCCGCTGACACTCCGGCCGCAGCCCCTGCGGAGACGAAGTCCCGCTTCTCTGTGTCTCTGCGGAAGTACTCGAAGATCTGCAACAGGGACAGACCAGGGTCGGGGCAGGTTCCTTGAGGGCACGGCTCTCAGAAAGGGAGAGCAACTGCCAGGACAGGGGCTGTGCAGGGGAAGGGGCTTTCAGGACAACCGAGTCAGCAGCTCTGATTCCTGAAGAGCACCGTGCTGCAGACCACGGCAAGAGACAGCAGGGTCAGCACCACCACCGGCAGCCCAGGGAAACACGCAAACACCCAGCCAGGAGCTCCACTTTCCAGCGCACGCAAGATTCCAAAAACCTCTACCCTCTAACGAAAAGCGCACGGATGGAAACCCAGCCTTGCTGTTCTTTGTCCTGCGGGACGCTGCCTGCCTCTAAATTCACACATGGCCGGCGCGGTGCCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCCGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAACTTAGCCAGGCGTGGTGGCGGGCACCTATAATCCCAGCTACTCGGGATGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCAACAGAGAGACTCCATCTCAAAAAAAAAAAAAAAATACAATCACACACAAATGCAGCTCAATCCCCATCAACATGCTGGGGACTTTTTTGGGGAAAAAGTGTTCCAAAGTGTGTCTTGACAAATAAACAACAGGTGGGCACACTTGGTCTCAGGTTCTGCACTCCTCTGAGAAGCCGCTTGGAGCCACAGACCCTCCCACGGGAAACACTGATGCACGTGTGGCAGGGGACCCAAGGAGGGAAGCAGCGGGCCGTAGGGAGGCCTTGCCGGGCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCCGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTTTGGACCTGAGCCGTAAAACAGCACACACAGCCCCGATCAGGCAGAGTGGCTGGGACACGGGGCCTCCGGGAGGGGGCCAGCACCCCCAGGCTGGGTCTCCCCATGGCCACAGTGGAGCTAAACAGCAGCCAAGCGTCCCCCGCACTCACTCGGGGGACCTGCCCTCTGTGGCCTCAGCACTGAGCAGGCAAGGGGTTCTTTCGTTTCCTTCCTTCCTGAGGCAAAGCTGGGCCGCCCACCGCATCCTACAGGCACACCTGCCTCCGCCAGCGTGGCCAGCACAGGGGAGGTGTTCCCGCTAGCCCCGCCTAGCAAGGCTCCTCATACACCCCTGGCACTGGAAGGCTGGTCACCTGCGGCTCCACGATGCCCCCTCTCCC 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CTTCCTTCCAGGGCAAAGGTGTCCAGCAGAGCAATAAATACTGGTGGGAGCAATTCTATCTCTTACAGGAAATCCCATCCATCCCTGCAGCCCTGTGGTTTTTGCCAACAGAGATAAACAACGGGAAGCCACAGAAGCGAAGCTTTGGGCTCCCCACTCCCCACGTGTACTGCCCATGGAAGAATCTGGAGGCCCCCGGGTGGCCCTGGGATGAGGGCAGGCTCCAGGGAGCCACAGCCTCCAGTCCTCGTCTCTATGGCCACGTCACAGCTGAGCCAGGCCCGCAGGCCGTCCCTGCGGTGCTGGGAGAAGCCCTTACCCACCACGCCCATGGCGATGAAGACCGGGATCTCGTGGATCGTGTAGGCCATTTTCTGTGCAGAGAGAGGGAGAAGGCAGAGGATGTGAGGGAAAAGGCCCACAGCTCCTTTCTGCTGAAACTCAAGGACCACCATCTTAAGAGAGCTGTCCCCACAGAGAGCCTTCCCGCCCTTCCACGCAGGCTGCGGAAGTCCACAGGGGAGAAACACACTGGGTGTTCTGAGCAGGCCTGGCCCCTGCCTGGCGGGGTGGCCAGCGAGGCTCTCAGAGACCCTGCCACCCTCAGCACCCGGGGCGGGGAGGGCCCCAAGCACTGGGAACATAGCCCGTGGTCCCCCAGTTTCCTGCGCACAGAGCCGCCCTATCGATGGCACGGAGAGTCTCCCCAGCCCAGGCCCCAGGCTACCCTGGAAACTAGGCCTGAGCCCACCTGCCCCGAGAGCGGCTGCTGCACGTGCCCCCAGGCCGTGGGAGGCCCCATGCACGCAGCAACTGTGTGACATCCCAGGTGCCCTGCTGGTCACATGGTGCCCTGACCTGAGGGGCAGCTTGGGGTGTCTTCCTGCAGCCCCTCGGGGCCCTGGAGCTTACACAAGAGCTCTCAGCTCCACAGCTATCAACCAGAGTTTTCTAAAGGACCAAATTCTCAACCTGGGCCTTAAGCAAACAGGGTCCTGGACCAGGATACGAGGTGGGCGAGGTGGGCGATGGGGCAGGTTACCTCCGAGTCAAACCTTCCGAAGTTGATGAGGCCTGGGCTGGACAGGTCCCACATGTTCCCGTGGTAAATGCTCAGAACAAAATTCAGGGTGAACGTGGAGATCATGGAAGCAAAGAACTGCGGCAGAGGGCAGGAAACCAGCGCCCTCAGAGCCACGCTCCCAGCCCAGGGCTCACGGACCAGCAGGGACCATCGCCCCTCCTGTCAGCCCCGGGGCCAGGAGTCTGCAGACCCCGCCCAAGGCAGAAGGGAAGGGGCTGGAGCCAGGGGTGGGCGCACTGTGCGGGCAAGGAGCGGCCCAGCCCTCTCTGGACTTGCCAGTGGAGAGCAAGAGGGGAAGGTGGGGCAGGGCTGGGTTCCCGGCTGTTTGATCCCCTACCCGGGAGCCACCCAGGGCTGGCAATGGTGCCCAGGACCAAGGGCGAACTGGGCAGCAAAGGCAGGACCGCTGCTTTGGGCAGGACCAAGGCCTGACAGACCCACAGGGGGTCCAGCTCCAGCCGCAGCTCGATGGGTGGCCCCAAGGTGGACCCCATGGTGGGAAATGAGAGCGCAGCATGCACCCTGATCAGGAGGCAGCCATCAGCAGGAACTTACGATCCTCCAGGTCAGGAACTGGTTCCAGAAGGACGCACCCTCCTCCAAGCTGAACAGGACCCCACCTGGAAGGCAGGCGGCCGGCTCGGGTGCCAGCTGGACACAGGGCACCATGCCCACCACCAACTCCCTCCCCCAGGCTCCAGGGAACCCAGACCACGTCAGAAAGAAGCTAATGGGGTGGGCCCCAGCCACACAGAGAGGGACCCTGAGGGAGGTCTGAGGGCTGGACCCAAGTACACTGCCGGCCGCTTCCAAATGCCCCGGCCGTGACTCCAAGCCTCTGCCACCCTCAGCGGGCACTGGGCCTACAGAGAGGAGACCGTTCCTTCCAACACACAGGGCGAGGGCAAAGCATTGGACCCGGTGCGGCCCTCCTCACCCACGGGGGCTCCAAACGCCGCTGACATTCCGGCCGCAGCCCCTGCGGAGACGAAGTCCCGCTTCTCTGTGTCTCTGCGGAAGTACTCGAAGATCTGCAACAGGGACAGACCAGGGTCGGGGCAGGTTCCTTGAGGGCACGGCTCTCAGAAAGGGAGAGCAACTGCCAGGACAGGGGCTGTGCAGGGGAAGGGGCTTTCAGGACAACCGAGTCAGCAGCTCTGATTCCTGAAGAGCACCGTGCTGCAGACCACGGCAAGAGACAGCAGGGTCAGCACCACCACCGGCAGCCCAGGGAAACACGCAAACACCCAGCCAGGAGCTCCACTTTCCAGCGCACGCAAGATTCCAAAAACCTCTACCCTCTAACGAAAAGCGCACGGATGGAAACCCAGCCTTGCTGTTCTTTGTCCTGCGGGACGCTGCCTGCCTCTAAATTCACACATGGCCGGCGCGGTGCCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCCGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAACTTAGCCAGGCGTGGTGGCGGGCACCTATAATCCCAGCTACTCGGGATGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCAACAGAGAGACTCCATCTCAAAAAAAAAAAAAAAATACAATCACACACAAATGCAGCTCAATCCCCATCAACATGCTGGGGACTTTTTTGGGGAAAAAGTGTTCCAAAGTGTGTCTTGACAAATAAACAACAGGTGGGCACACTTGGTCTCAGGTTCTGCACTCCTCTGAGAAGCCGCTTGGAGCCACAGACCCTCCCACGGGAAACACTGATGCACGTGTGGCAGGGGACCCAAGGAGGGAAGCAGCGGGCCGTAGGGAGGCCTTGCCGGGCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCCGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTTTGGACCTGAGCCGTAAAACAGCACACACAGCCCCGATCAGGCAGAGTGGCTGGGACACGGGGCCTCCGGGAGGGGGCCAGCACCCCCAGGCTGGGTCTCCCCATGGCCACAGTGGAGCTAAACAGCAGCCAAGCGTCCCCCGCACTCACTCGGGGGACCTGCCCTCTGTGGCCTCAGCACTGAGCAGGCAAGGGGTTCTTTCGTTTCCTTCCTTCCTGAGGCAAAGCTGGGCCGCCCACCGCATCCTACAGGCACACCTGCCTCCGCCAGCGTGGCCAGCACAGGGGAGGTGTTCCCGCTAGCCCCGCCTAGCAAGGCTCCTCATACACCCCTGGCACTGGAAGGCTGGTCACCTGCGGCTCCACGATGCCCCCTCTCCC 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Task1_train_22034 | A mutation found in CLCN7 (chloride voltage-gated channel 7) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | GTCCAGCAGAGCAATAAATACTGGTGGGAGCAATTCTATCTCTTACAGGAAATCCCATCCATCCCTGCAGCCCTGTGGTTTTTGCCAACAGAGATAAACAACGGGAAGCCACAGAAGCGAAGCTTTGGGCTCCCCACTCCCCACGTGTACTGCCCATGGAAGAATCTGGAGGCCCCCGGGTGGCCCTGGGATGAGGGCAGGCTCCAGGGAGCCACAGCCTCCAGTCCTCGTCTCTATGGCCACGTCACAGCTGAGCCAGGCCCGCAGGCCGTCCCTGCGGTGCTGGGAGAAGCCCTTACCCACCACGCCCATGGCGATGAAGACCGGGATCTCGTGGATCGTGTAGGCCATTTTCTGTGCAGAGAGAGGGAGAAGGCAGAGGATGTGAGGGAAAAGGCCCACAGCTCCTTTCTGCTGAAACTCAAGGACCACCATCTTAAGAGAGCTGTCCCCACAGAGAGCCTTCCCGCCCTTCCACGCAGGCTGCGGAAGTCCACAGGGGAGAAACACACTGGGTGTTCTGAGCAGGCCTGGCCCCTGCCTGGCGGGGTGGCCAGCGAGGCTCTCAGAGACCCTGCCACCCTCAGCACCCGGGGCGGGGAGGGCCCCAAGCACTGGGAACATAGCCCGTGGTCCCCCAGTTTCCTGCGCACAGAGCCGCCCTATCGATGGCACGGAGAGTCTCCCCAGCCCAGGCCCCAGGCTACCCTGGAAACTAGGCCTGAGCCCACCTGCCCCGAGAGCGGCTGCTGCACGTGCCCCCAGGCCGTGGGAGGCCCCATGCACGCAGCAACTGTGTGACATCCCAGGTGCCCTGCTGGTCACATGGTGCCCTGACCTGAGGGGCAGCTTGGGGTGTCTTCCTGCAGCCCCTCGGGGCCCTGGAGCTTACACAAGAGCTCTCAGCTCCACAGCTATCAACCAGAGTTTTCTAAAGGACCAAATTCTCAACCTGGGCCTTAAGCAAACAGGGTCCTGGACCAGGATACGAGGTGGGCGAGGTGGGCGATGGGGCAGGTTACCTCCGAGTCAAACCTTCCGAAGTTGATGAGGCCTGGGCTGGACAGGTCCCACATGTTCCCGTGGTAAATGCTCAGAACAAAATTCAGGGTGAACGTGGAGATCATGGAAGCAAAGAACTGCGGCAGAGGGCAGGAAACCAGCGCCCTCAGAGCCACGCTCCCAGCCCAGGGCTCACGGACCAGCAGGGACCATCGCCCCTCCTGTCAGCCCCGGGGCCAGGAGTCTGCAGACCCCGCCCAAGGCAGAAGGGAAGGGGCTGGAGCCAGGGGTGGGCGCACTGTGCGGGCAAGGAGCGGCCCAGCCCTCTCTGGACTTGCCAGTGGAGAGCAAGAGGGGAAGGTGGGGCAGGGCTGGGTTCCCGGCTGTTTGATCCCCTACCCGGGAGCCACCCAGGGCTGGCAATGGTGCCCAGGACCAAGGGCGAACTGGGCAGCAAAGGCAGGACCGCTGCTTTGGGCAGGACCAAGGCCTGACAGACCCACAGGGGGTCCAGCTCCAGCCGCAGCTCGATGGGTGGCCCCAAGGTGGACCCCATGGTGGGAAATGAGAGCGCAGCATGCACCCTGATCAGGAGGCAGCCATCAGCAGGAACTTACGATCCTCCAGGTCAGGAACTGGTTCCAGAAGGACGCACCCTCCTCCAAGCTGAACAGGACCCCACCTGGAAGGCAGGCGGCCGGCTCGGGTGCCAGCTGGACACAGGGCACCATGCCCACCACCAACTCCCTCCCCCAGGCTCCAGGGAACCCAGACCACGTCAGAAAGAAGCTAATGGGGTGGGCCCCAGCCACACAGAGAGGGACCCTGAGGGAGGTCTGAGGGCTGGACCCAAGTACACTGCCGGCCGCTTCCAAATGCCCCGGCCGTGACTCCAAGCCTCTGCCACCCTCAGCGGGCACTGGGCCTACAGAGAGGAGACCGTTCCTTCCAACACACAGGGCGAGGGCAAAGCATTGGACCCGGTGCGGCCCTCCTCACCCACGGGGGCTCCAAACGCCGCTGACACTCCGGCCGCAGCCCCTGCGGAGACGAAGTCCCGCTTCTCTGTGTCTCTGCGGAAGTACTCGAAGATCTGCAACAGGGACAGACCAGGGTCGGGGCAGGTTCCTTGAGGGCACGGCTCTCAGAAAGGGAGAGCAACTGCCAGGACAGGGGCTGTGCAGGGGAAGGGGCTTTCAGGACAACCGAGTCAGCAGCTCTGATTCCTGAAGAGCACCGTGCTGCAGACCACGGCAAGAGACAGCAGGGTCAGCACCACCACCGGCAGCCCAGGGAAACACGCAAACACCCAGCCAGGAGCTCCACTTTCCAGCGCACGCAAGATTCCAAAAACCTCTACCCTCTAACGAAAAGCGCACGGATGGAAACCCAGCCTTGCTGTTCTTTGTCCTGCGGGACGCTGCCTGCCTCTAAATTCACACATGGCCGGCGCGGTGCCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCCGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAACTTAGCCAGGCGTGGTGGCGGGCACCTATAATCCCAGCTACTCGGGATGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCAACAGAGAGACTCCATCTCAAAAAAAAAAAAAAAATACAATCACACACAAATGCAGCTCAATCCCCATCAACATGCTGGGGACTTTTTTGGGGAAAAAGTGTTCCAAAGTGTGTCTTGACAAATAAACAACAGGTGGGCACACTTGGTCTCAGGTTCTGCACTCCTCTGAGAAGCCGCTTGGAGCCACAGACCCTCCCACGGGAAACACTGATGCACGTGTGGCAGGGGACCCAAGGAGGGAAGCAGCGGGCCGTAGGGAGGCCTTGCCGGGCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCCGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTTTGGACCTGAGCCGTAAAACAGCACACACAGCCCCGATCAGGCAGAGTGGCTGGGACACGGGGCCTCCGGGAGGGGGCCAGCACCCCCAGGCTGGGTCTCCCCATGGCCACAGTGGAGCTAAACAGCAGCCAAGCGTCCCCCGCACTCACTCGGGGGACCTGCCCTCTGTGGCCTCAGCACTGAGCAGGCAAGGGGTTCTTTCGTTTCCTTCCTTCCTGAGGCAAAGCTGGGCCGCCCACCGCATCCTACAGGCACACCTGCCTCCGCCAGCGTGGCCAGCACAGGGGAGGTGTTCCCGCTAGCCCCGCCTAGCAAGGCTCCTCATACACCCCTGGCACTGGAAGGCTGGTCACCTGCGGCTCCACGATGCCCCCTCTCCCTTCGGCTGCTCCCCGCCCCC 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GTCCAGCAGAGCAATAAATACTGGTGGGAGCAATTCTATCTCTTACAGGAAATCCCATCCATCCCTGCAGCCCTGTGGTTTTTGCCAACAGAGATAAACAACGGGAAGCCACAGAAGCGAAGCTTTGGGCTCCCCACTCCCCACGTGTACTGCCCATGGAAGAATCTGGAGGCCCCCGGGTGGCCCTGGGATGAGGGCAGGCTCCAGGGAGCCACAGCCTCCAGTCCTCGTCTCTATGGCCACGTCACAGCTGAGCCAGGCCCGCAGGCCGTCCCTGCGGTGCTGGGAGAAGCCCTTACCCACCACGCCCATGGCGATGAAGACCGGGATCTCGTGGATCGTGTAGGCCATTTTCTGTGCAGAGAGAGGGAGAAGGCAGAGGATGTGAGGGAAAAGGCCCACAGCTCCTTTCTGCTGAAACTCAAGGACCACCATCTTAAGAGAGCTGTCCCCACAGAGAGCCTTCCCGCCCTTCCACGCAGGCTGCGGAAGTCCACAGGGGAGAAACACACTGGGTGTTCTGAGCAGGCCTGGCCCCTGCCTGGCGGGGTGGCCAGCGAGGCTCTCAGAGACCCTGCCACCCTCAGCACCCGGGGCGGGGAGGGCCCCAAGCACTGGGAACATAGCCCGTGGTCCCCCAGTTTCCTGCGCACAGAGCCGCCCTATCGATGGCACGGAGAGTCTCCCCAGCCCAGGCCCCAGGCTACCCTGGAAACTAGGCCTGAGCCCACCTGCCCCGAGAGCGGCTGCTGCACGTGCCCCCAGGCCGTGGGAGGCCCCATGCACGCAGCAACTGTGTGACATCCCAGGTGCCCTGCTGGTCACATGGTGCCCTGACCTGAGGGGCAGCTTGGGGTGTCTTCCTGCAGCCCCTCGGGGCCCTGGAGCTTACACAAGAGCTCTCAGCTCCACAGCTATCAACCAGAGTTTTCTAAAGGACCAAATTCTCAACCTGGGCCTTAAGCAAACAGGGTCCTGGACCAGGATACGAGGTGGGCGAGGTGGGCGATGGGGCAGGTTACCTCCGAGTCAAACCTTCCGAAGTTGATGAGGCCTGGGCTGGACAGGTCCCACATGTTCCCGTGGTAAATGCTCAGAACAAAATTCAGGGTGAACGTGGAGATCATGGAAGCAAAGAACTGCGGCAGAGGGCAGGAAACCAGCGCCCTCAGAGCCACGCTCCCAGCCCAGGGCTCACGGACCAGCAGGGACCATCGCCCCTCCTGTCAGCCCCGGGGCCAGGAGTCTGCAGACCCCGCCCAAGGCAGAAGGGAAGGGGCTGGAGCCAGGGGTGGGCGCACTGTGCGGGCAAGGAGCGGCCCAGCCCTCTCTGGACTTGCCAGTGGAGAGCAAGAGGGGAAGGTGGGGCAGGGCTGGGTTCCCGGCTGTTTGATCCCCTACCCGGGAGCCACCCAGGGCTGGCAATGGTGCCCAGGACCAAGGGCGAACTGGGCAGCAAAGGCAGGACCGCTGCTTTGGGCAGGACCAAGGCCTGACAGACCCACAGGGGGTCCAGCTCCAGCCGCAGCTCGATGGGTGGCCCCAAGGTGGACCCCATGGTGGGAAATGAGAGCGCAGCATGCACCCTGATCAGGAGGCAGCCATCAGCAGGAACTTACGATCCTCCAGGTCAGGAACTGGTTCCAGAAGGACGCACCCTCCTCCAAGCTGAACAGGACCCCACCTGGAAGGCAGGCGGCCGGCTCGGGTGCCAGCTGGACACAGGGCACCATGCCCACCACCAACTCCCTCCCCCAGGCTCCAGGGAACCCAGACCACGTCAGAAAGAAGCTAATGGGGTGGGCCCCAGCCACACAGAGAGGGACCCTGAGGGAGGTCTGAGGGCTGGACCCAAGTACACTGCCGGCCGCTTCCAAATGCCCCGGCCGTGACTCCAAGCCTCTGCCACCCTCAGCGGGCACTGGGCCTACAGAGAGGAGACCGTTCCTTCCAACACACAGGGCGAGGGCAAAGCATTGGACCCGGTGCGGCCCTCCTCACCCACGGGGGCTCCAAACGCCGCTGACACTCCGGCCGCAGCCCCTGCGAAGACGAAGTCCCGCTTCTCTGTGTCTCTGCGGAAGTACTCGAAGATCTGCAACAGGGACAGACCAGGGTCGGGGCAGGTTCCTTGAGGGCACGGCTCTCAGAAAGGGAGAGCAACTGCCAGGACAGGGGCTGTGCAGGGGAAGGGGCTTTCAGGACAACCGAGTCAGCAGCTCTGATTCCTGAAGAGCACCGTGCTGCAGACCACGGCAAGAGACAGCAGGGTCAGCACCACCACCGGCAGCCCAGGGAAACACGCAAACACCCAGCCAGGAGCTCCACTTTCCAGCGCACGCAAGATTCCAAAAACCTCTACCCTCTAACGAAAAGCGCACGGATGGAAACCCAGCCTTGCTGTTCTTTGTCCTGCGGGACGCTGCCTGCCTCTAAATTCACACATGGCCGGCGCGGTGCCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCCGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAACTTAGCCAGGCGTGGTGGCGGGCACCTATAATCCCAGCTACTCGGGATGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCAACAGAGAGACTCCATCTCAAAAAAAAAAAAAAAATACAATCACACACAAATGCAGCTCAATCCCCATCAACATGCTGGGGACTTTTTTGGGGAAAAAGTGTTCCAAAGTGTGTCTTGACAAATAAACAACAGGTGGGCACACTTGGTCTCAGGTTCTGCACTCCTCTGAGAAGCCGCTTGGAGCCACAGACCCTCCCACGGGAAACACTGATGCACGTGTGGCAGGGGACCCAAGGAGGGAAGCAGCGGGCCGTAGGGAGGCCTTGCCGGGCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCCGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTTTGGACCTGAGCCGTAAAACAGCACACACAGCCCCGATCAGGCAGAGTGGCTGGGACACGGGGCCTCCGGGAGGGGGCCAGCACCCCCAGGCTGGGTCTCCCCATGGCCACAGTGGAGCTAAACAGCAGCCAAGCGTCCCCCGCACTCACTCGGGGGACCTGCCCTCTGTGGCCTCAGCACTGAGCAGGCAAGGGGTTCTTTCGTTTCCTTCCTTCCTGAGGCAAAGCTGGGCCGCCCACCGCATCCTACAGGCACACCTGCCTCCGCCAGCGTGGCCAGCACAGGGGAGGTGTTCCCGCTAGCCCCGCCTAGCAAGGCTCCTCATACACCCCTGGCACTGGAAGGCTGGTCACCTGCGGCTCCACGATGCCCCCTCTCCCTTCGGCTGCTCCCCGCCCCC 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Task1_train_22035 | Given this context: Chromosome 16, gene CLCN7 (chloride voltage-gated channel 7) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal recessive osteopetrosis 4 | AGAACTGCGGCAGAGGGCAGGAAACCAGCGCCCTCAGAGCCACGCTCCCAGCCCAGGGCTCACGGACCAGCAGGGACCATCGCCCCTCCTGTCAGCCCCGGGGCCAGGAGTCTGCAGACCCCGCCCAAGGCAGAAGGGAAGGGGCTGGAGCCAGGGGTGGGCGCACTGTGCGGGCAAGGAGCGGCCCAGCCCTCTCTGGACTTGCCAGTGGAGAGCAAGAGGGGAAGGTGGGGCAGGGCTGGGTTCCCGGCTGTTTGATCCCCTACCCGGGAGCCACCCAGGGCTGGCAATGGTGCCCAGGACCAAGGGCGAACTGGGCAGCAAAGGCAGGACCGCTGCTTTGGGCAGGACCAAGGCCTGACAGACCCACAGGGGGTCCAGCTCCAGCCGCAGCTCGATGGGTGGCCCCAAGGTGGACCCCATGGTGGGAAATGAGAGCGCAGCATGCACCCTGATCAGGAGGCAGCCATCAGCAGGAACTTACGATCCTCCAGGTCAGGAACTGGTTCCAGAAGGACGCACCCTCCTCCAAGCTGAACAGGACCCCACCTGGAAGGCAGGCGGCCGGCTCGGGTGCCAGCTGGACACAGGGCACCATGCCCACCACCAACTCCCTCCCCCAGGCTCCAGGGAACCCAGACCACGTCAGAAAGAAGCTAATGGGGTGGGCCCCAGCCACACAGAGAGGGACCCTGAGGGAGGTCTGAGGGCTGGACCCAAGTACACTGCCGGCCGCTTCCAAATGCCCCGGCCGTGACTCCAAGCCTCTGCCACCCTCAGCGGGCACTGGGCCTACAGAGAGGAGACCGTTCCTTCCAACACACAGGGCGAGGGCAAAGCATTGGACCCGGTGCGGCCCTCCTCACCCACGGGGGCTCCAAACGCCGCTGACACTCCGGCCGCAGCCCCTGCGGAGACGAAGTCCCGCTTCTCTGTGTCTCTGCGGAAGTACTCGAAGATCTGCAACAGGGACAGACCAGGGTCGGGGCAGGTTCCTTGAGGGCACGGCTCTCAGAAAGGGAGAGCAACTGCCAGGACAGGGGCTGTGCAGGGGAAGGGGCTTTCAGGACAACCGAGTCAGCAGCTCTGATTCCTGAAGAGCACCGTGCTGCAGACCACGGCAAGAGACAGCAGGGTCAGCACCACCACCGGCAGCCCAGGGAAACACGCAAACACCCAGCCAGGAGCTCCACTTTCCAGCGCACGCAAGATTCCAAAAACCTCTACCCTCTAACGAAAAGCGCACGGATGGAAACCCAGCCTTGCTGTTCTTTGTCCTGCGGGACGCTGCCTGCCTCTAAATTCACACATGGCCGGCGCGGTGCCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCCGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAACTTAGCCAGGCGTGGTGGCGGGCACCTATAATCCCAGCTACTCGGGATGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCAACAGAGAGACTCCATCTCAAAAAAAAAAAAAAAATACAATCACACACAAATGCAGCTCAATCCCCATCAACATGCTGGGGACTTTTTTGGGGAAAAAGTGTTCCAAAGTGTGTCTTGACAAATAAACAACAGGTGGGCACACTTGGTCTCAGGTTCTGCACTCCTCTGAGAAGCCGCTTGGAGCCACAGACCCTCCCACGGGAAACACTGATGCACGTGTGGCAGGGGACCCAAGGAGGGAAGCAGCGGGCCGTAGGGAGGCCTTGCCGGGCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCCGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTTTGGACCTGAGCCGTAAAACAGCACACACAGCCCCGATCAGGCAGAGTGGCTGGGACACGGGGCCTCCGGGAGGGGGCCAGCACCCCCAGGCTGGGTCTCCCCATGGCCACAGTGGAGCTAAACAGCAGCCAAGCGTCCCCCGCACTCACTCGGGGGACCTGCCCTCTGTGGCCTCAGCACTGAGCAGGCAAGGGGTTCTTTCGTTTCCTTCCTTCCTGAGGCAAAGCTGGGCCGCCCACCGCATCCTACAGGCACACCTGCCTCCGCCAGCGTGGCCAGCACAGGGGAGGTGTTCCCGCTAGCCCCGCCTAGCAAGGCTCCTCATACACCCCTGGCACTGGAAGGCTGGTCACCTGCGGCTCCACGATGCCCCCTCTCCCTTCGGCTGCTCCCCGCCCCCAGGGGCCTCATCCTCTCCACCTGAGAAGGTGTGTAAGGTGTTTATCAGCCTCCCTGCCCCAGGGCAGAACCCACAAGGGCGCAGACCCTAAACACAAGGGCGCTGAGTGTGTGGGGGAGGACTGTATGTTAAAGATGCCGAGCAAACTCAACCCTCAGCCAACAAAAGTTATAGAGCAACATCCAAGAAGGTTCAGGCCAGCCTGGCGCGGGTGACAGGCGGGTCGCCATTCCCAGCTGCTCCAGTAAACCTGATCTCCCACCACAGGGCAGGGGCACCCCAAGGTCACCTGGGAGCTTTCGCCAGAGGGGACACACTGGTCCCGCTCCTTGGCCACGGGGACCAGGCCCCGGAAGCACCCCCAGGGGGCAGCGGCCATGCTGCCCACCCATCCTCAGACGGGACGGGGCTGCGGCAAGTCTCAGGCTAAGGAACGATGGCGGCACAGACAGAAGCAACCACAGCGGAACTGGGTCAGGACTCCCAGCACCTCCAGAACCAGATGCTCTGATAACACCAAGTGTAAATGACCATGAGGCAAACTGAAAGCGGGAAACTGCTACACGCCCACTACCACGACAGCTTCCACGGTGAATCAGTCACCACCACGCAGCCCACAGTCACAGACGCGTCGCACAGCTGTGTCACACATGCACCACGCAAGCATTTCTGTATGACTACTCATTTCTTACGTAATTTAATATGTGCAAATACCAGTTGTTACCACTTTCAGAAAAAAAGGTGACCCCTTCACACCCAGCCAGCCCATCTGCACACAGTGCCACCAGTACACAGGGTGGCTGAGGCCAGTTCTGGAAGGCAGGCAGCCAAGAGAGCTGCTCCTGAACCAGCAAAGAGCGGGCGCCCACCCTGCCCAGCCAGGGCCACCGCACCCTCACCTTGAGCCGCACCACGTGGGGGATCTTCACCCCGTTGAGGAAGCACTTGATCTGGGGGATTCCGCTGCCAGCAGCCACCGGCTGAAAGAGGGGAAGCACGGCTGAGTGGGTCACGGCCAGGCTGAGACAGATGCAGCCCCTCAGCCCCAGGAGCCCCAGGAGCTGAGGAGAGCAGCAGACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACAAACGTCGGGGCCCCAGGGAA 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AGAACTGCGGCAGAGGGCAGGAAACCAGCGCCCTCAGAGCCACGCTCCCAGCCCAGGGCTCACGGACCAGCAGGGACCATCGCCCCTCCTGTCAGCCCCGGGGCCAGGAGTCTGCAGACCCCGCCCAAGGCAGAAGGGAAGGGGCTGGAGCCAGGGGTGGGCGCACTGTGCGGGCAAGGAGCGGCCCAGCCCTCTCTGGACTTGCCAGTGGAGAGCAAGAGGGGAAGGTGGGGCAGGGCTGGGTTCCCGGCTGTTTGATCCCCTACCCGGGAGCCACCCAGGGCTGGCAATGGTGCCCAGGACCAAGGGCGAACTGGGCAGCAAAGGCAGGACCGCTGCTTTGGGCAGGACCAAGGCCTGACAGACCCACAGGGGGTCCAGCTCCAGCCGCAGCTCGATGGGTGGCCCCAAGGTGGACCCCATGGTGGGAAATGAGAGCGCAGCATGCACCCTGATCAGGAGGCAGCCATCAGCAGGAACTTACGATCCTCCAGGTCAGGAACTGGTTCCAGAAGGACGCACCCTCCTCCAAGCTGAACAGGACCCCACCTGGAAGGCAGGCGGCCGGCTCGGGTGCCAGCTGGACACAGGGCACCATGCCCACCACCAACTCCCTCCCCCAGGCTCCAGGGAACCCAGACCACGTCAGAAAGAAGCTAATGGGGTGGGCCCCAGCCACACAGAGAGGGACCCTGAGGGAGGTCTGAGGGCTGGACCCAAGTACACTGCCGGCCGCTTCCAAATGCCCCGGCCGTGACTCCAAGCCTCTGCCACCCTCAGCGGGCACTGGGCCTACAGAGAGGAGACCGTTCCTTCCAACACACAGGGCGAGGGCAAAGCATTGGACCCGGTGCGGCCCTCCTCACCCACGGGGGCTCCAAACGCCGCTGACACTCCGGCCGCAGCCCCTGCGGAGACGAAGTCCCGCTTCTCTGTGTCTCTGCGGAAGTACTCGAAGATCTGCAACAGGGACAGACCAGGGTCGGGGCAGGTTCCTTGAGGGCACGGCTCTCAGAAAGGGAGAGCAACTGCCAGGACAGGGGCTGTGCAGGGGAAGGGGCTTTCAGGACAACCGAGTCAGCAGCTCTGATTCCTGAAGAGCACCGTGCTGCAGACCACGGCAAGAGACAGCAGGGTCAGCACCACCACCGGCAGCCCAGGGAAACACGCAAACACCCAGCCAGGAGCTCCACTTTCCAGCGCACGCAAGATTCCAAAAACCTCTACCCTCTAACGAAAAGCGCACGGATGGAAACCCAGCCTTGCTGTTCTTTGTCCTGCGGGACGCTGCCTGCCTCTAAATTCACACATGGCCGGCGCGGTGCCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCCGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAACTTAGCCAGGCGTGGTGGCGGGCACCTATAATCCCAGCTACTCGGGATGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCAACAGAGAGACTCCATCTCAAAAAAAAAAAAAAAATACAATCACACACAAATGCAGCTCAATCCCCATCAACATGCTGGGGACTTTTTTGGGGAAAAAGTGTTCCAAAGTGTGTCTTGACAAATAAACAACAGGTGGGCACACTTGGTCTCAGGTTCTGCACTCCTCTGAGAAGCCGCTTGGAGCCACAGACCCTCCCACGGGAAACACTGATGCACGTGTGGCAGGGGACCCAAGGAGGGAAGCAGCGGGCCGTAGGGAGGCCTTGCCGGGCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGAACCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCCGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTTTGGACCTGAGCCGTAAAACAGCACACACAGCCCCGATCAGGCAGAGTGGCTGGGACACGGGGCCTCCGGGAGGGGGCCAGCACCCCCAGGCTGGGTCTCCCCATGGCCACAGTGGAGCTAAACAGCAGCCAAGCGTCCCCCGCACTCACTCGGGGGACCTGCCCTCTGTGGCCTCAGCACTGAGCAGGCAAGGGGTTCTTTCGTTTCCTTCCTTCCTGAGGCAAAGCTGGGCCGCCCACCGCATCCTACAGGCACACCTGCCTCCGCCAGCGTGGCCAGCACAGGGGAGGTGTTCCCGCTAGCCCCGCCTAGCAAGGCTCCTCATACACCCCTGGCACTGGAAGGCTGGTCACCTGCGGCTCCACGATGCCCCCTCTCCCTTCGGCTGCTCCCCGCCCCCAGGGGCCTCATCCTCTCCACCTGAGAAGGTGTGTAAGGTGTTTATCAGCCTCCCTGCCCCAGGGCAGAACCCACAAGGGCGCAGACCCTAAACACAAGGGCGCTGAGTGTGTGGGGGAGGACTGTATGTTAAAGATGCCGAGCAAACTCAACCCTCAGCCAACAAAAGTTATAGAGCAACATCCAAGAAGGTTCAGGCCAGCCTGGCGCGGGTGACAGGCGGGTCGCCATTCCCAGCTGCTCCAGTAAACCTGATCTCCCACCACAGGGCAGGGGCACCCCAAGGTCACCTGGGAGCTTTCGCCAGAGGGGACACACTGGTCCCGCTCCTTGGCCACGGGGACCAGGCCCCGGAAGCACCCCCAGGGGGCAGCGGCCATGCTGCCCACCCATCCTCAGACGGGACGGGGCTGCGGCAAGTCTCAGGCTAAGGAACGATGGCGGCACAGACAGAAGCAACCACAGCGGAACTGGGTCAGGACTCCCAGCACCTCCAGAACCAGATGCTCTGATAACACCAAGTGTAAATGACCATGAGGCAAACTGAAAGCGGGAAACTGCTACACGCCCACTACCACGACAGCTTCCACGGTGAATCAGTCACCACCACGCAGCCCACAGTCACAGACGCGTCGCACAGCTGTGTCACACATGCACCACGCAAGCATTTCTGTATGACTACTCATTTCTTACGTAATTTAATATGTGCAAATACCAGTTGTTACCACTTTCAGAAAAAAAGGTGACCCCTTCACACCCAGCCAGCCCATCTGCACACAGTGCCACCAGTACACAGGGTGGCTGAGGCCAGTTCTGGAAGGCAGGCAGCCAAGAGAGCTGCTCCTGAACCAGCAAAGAGCGGGCGCCCACCCTGCCCAGCCAGGGCCACCGCACCCTCACCTTGAGCCGCACCACGTGGGGGATCTTCACCCCGTTGAGGAAGCACTTGATCTGGGGGATTCCGCTGCCAGCAGCCACCGGCTGAAAGAGGGGAAGCACGGCTGAGTGGGTCACGGCCAGGCTGAGACAGATGCAGCCCCTCAGCCCCAGGAGCCCCAGGAGCTGAGGAGAGCAGCAGACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACAAACGTCGGGGCCCCAGGGAA 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Task1_train_22036 | Here is a genetic alteration in CLCN7 (chloride voltage-gated channel 7) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | AGAGCCACGCTCCCAGCCCAGGGCTCACGGACCAGCAGGGACCATCGCCCCTCCTGTCAGCCCCGGGGCCAGGAGTCTGCAGACCCCGCCCAAGGCAGAAGGGAAGGGGCTGGAGCCAGGGGTGGGCGCACTGTGCGGGCAAGGAGCGGCCCAGCCCTCTCTGGACTTGCCAGTGGAGAGCAAGAGGGGAAGGTGGGGCAGGGCTGGGTTCCCGGCTGTTTGATCCCCTACCCGGGAGCCACCCAGGGCTGGCAATGGTGCCCAGGACCAAGGGCGAACTGGGCAGCAAAGGCAGGACCGCTGCTTTGGGCAGGACCAAGGCCTGACAGACCCACAGGGGGTCCAGCTCCAGCCGCAGCTCGATGGGTGGCCCCAAGGTGGACCCCATGGTGGGAAATGAGAGCGCAGCATGCACCCTGATCAGGAGGCAGCCATCAGCAGGAACTTACGATCCTCCAGGTCAGGAACTGGTTCCAGAAGGACGCACCCTCCTCCAAGCTGAACAGGACCCCACCTGGAAGGCAGGCGGCCGGCTCGGGTGCCAGCTGGACACAGGGCACCATGCCCACCACCAACTCCCTCCCCCAGGCTCCAGGGAACCCAGACCACGTCAGAAAGAAGCTAATGGGGTGGGCCCCAGCCACACAGAGAGGGACCCTGAGGGAGGTCTGAGGGCTGGACCCAAGTACACTGCCGGCCGCTTCCAAATGCCCCGGCCGTGACTCCAAGCCTCTGCCACCCTCAGCGGGCACTGGGCCTACAGAGAGGAGACCGTTCCTTCCAACACACAGGGCGAGGGCAAAGCATTGGACCCGGTGCGGCCCTCCTCACCCACGGGGGCTCCAAACGCCGCTGACACTCCGGCCGCAGCCCCTGCGGAGACGAAGTCCCGCTTCTCTGTGTCTCTGCGGAAGTACTCGAAGATCTGCAACAGGGACAGACCAGGGTCGGGGCAGGTTCCTTGAGGGCACGGCTCTCAGAAAGGGAGAGCAACTGCCAGGACAGGGGCTGTGCAGGGGAAGGGGCTTTCAGGACAACCGAGTCAGCAGCTCTGATTCCTGAAGAGCACCGTGCTGCAGACCACGGCAAGAGACAGCAGGGTCAGCACCACCACCGGCAGCCCAGGGAAACACGCAAACACCCAGCCAGGAGCTCCACTTTCCAGCGCACGCAAGATTCCAAAAACCTCTACCCTCTAACGAAAAGCGCACGGATGGAAACCCAGCCTTGCTGTTCTTTGTCCTGCGGGACGCTGCCTGCCTCTAAATTCACACATGGCCGGCGCGGTGCCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCCGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAACTTAGCCAGGCGTGGTGGCGGGCACCTATAATCCCAGCTACTCGGGATGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCAACAGAGAGACTCCATCTCAAAAAAAAAAAAAAAATACAATCACACACAAATGCAGCTCAATCCCCATCAACATGCTGGGGACTTTTTTGGGGAAAAAGTGTTCCAAAGTGTGTCTTGACAAATAAACAACAGGTGGGCACACTTGGTCTCAGGTTCTGCACTCCTCTGAGAAGCCGCTTGGAGCCACAGACCCTCCCACGGGAAACACTGATGCACGTGTGGCAGGGGACCCAAGGAGGGAAGCAGCGGGCCGTAGGGAGGCCTTGCCGGGCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCCGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTTTGGACCTGAGCCGTAAAACAGCACACACAGCCCCGATCAGGCAGAGTGGCTGGGACACGGGGCCTCCGGGAGGGGGCCAGCACCCCCAGGCTGGGTCTCCCCATGGCCACAGTGGAGCTAAACAGCAGCCAAGCGTCCCCCGCACTCACTCGGGGGACCTGCCCTCTGTGGCCTCAGCACTGAGCAGGCAAGGGGTTCTTTCGTTTCCTTCCTTCCTGAGGCAAAGCTGGGCCGCCCACCGCATCCTACAGGCACACCTGCCTCCGCCAGCGTGGCCAGCACAGGGGAGGTGTTCCCGCTAGCCCCGCCTAGCAAGGCTCCTCATACACCCCTGGCACTGGAAGGCTGGTCACCTGCGGCTCCACGATGCCCCCTCTCCCTTCGGCTGCTCCCCGCCCCCAGGGGCCTCATCCTCTCCACCTGAGAAGGTGTGTAAGGTGTTTATCAGCCTCCCTGCCCCAGGGCAGAACCCACAAGGGCGCAGACCCTAAACACAAGGGCGCTGAGTGTGTGGGGGAGGACTGTATGTTAAAGATGCCGAGCAAACTCAACCCTCAGCCAACAAAAGTTATAGAGCAACATCCAAGAAGGTTCAGGCCAGCCTGGCGCGGGTGACAGGCGGGTCGCCATTCCCAGCTGCTCCAGTAAACCTGATCTCCCACCACAGGGCAGGGGCACCCCAAGGTCACCTGGGAGCTTTCGCCAGAGGGGACACACTGGTCCCGCTCCTTGGCCACGGGGACCAGGCCCCGGAAGCACCCCCAGGGGGCAGCGGCCATGCTGCCCACCCATCCTCAGACGGGACGGGGCTGCGGCAAGTCTCAGGCTAAGGAACGATGGCGGCACAGACAGAAGCAACCACAGCGGAACTGGGTCAGGACTCCCAGCACCTCCAGAACCAGATGCTCTGATAACACCAAGTGTAAATGACCATGAGGCAAACTGAAAGCGGGAAACTGCTACACGCCCACTACCACGACAGCTTCCACGGTGAATCAGTCACCACCACGCAGCCCACAGTCACAGACGCGTCGCACAGCTGTGTCACACATGCACCACGCAAGCATTTCTGTATGACTACTCATTTCTTACGTAATTTAATATGTGCAAATACCAGTTGTTACCACTTTCAGAAAAAAAGGTGACCCCTTCACACCCAGCCAGCCCATCTGCACACAGTGCCACCAGTACACAGGGTGGCTGAGGCCAGTTCTGGAAGGCAGGCAGCCAAGAGAGCTGCTCCTGAACCAGCAAAGAGCGGGCGCCCACCCTGCCCAGCCAGGGCCACCGCACCCTCACCTTGAGCCGCACCACGTGGGGGATCTTCACCCCGTTGAGGAAGCACTTGATCTGGGGGATTCCGCTGCCAGCAGCCACCGGCTGAAAGAGGGGAAGCACGGCTGAGTGGGTCACGGCCAGGCTGAGACAGATGCAGCCCCTCAGCCCCAGGAGCCCCAGGAGCTGAGGAGAGCAGCAGACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACAAACGTCGGGGCCCCAGGGAAGGGAAGAGCAGCACACACGTCAGGGCCCCAGGGAA 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AGAGCCACGCTCCCAGCCCAGGGCTCACGGACCAGCAGGGACCATCGCCCCTCCTGTCAGCCCCGGGGCCAGGAGTCTGCAGACCCCGCCCAAGGCAGAAGGGAAGGGGCTGGAGCCAGGGGTGGGCGCACTGTGCGGGCAAGGAGCGGCCCAGCCCTCTCTGGACTTGCCAGTGGAGAGCAAGAGGGGAAGGTGGGGCAGGGCTGGGTTCCCGGCTGTTTGATCCCCTACCCGGGAGCCACCCAGGGCTGGCAATGGTGCCCAGGACCAAGGGCGAACTGGGCAGCAAAGGCAGGACCGCTGCTTTGGGCAGGACCAAGGCCTGACAGACCCACAGGGGGTCCAGCTCCAGCCGCAGCTCGATGGGTGGCCCCAAGGTGGACCCCATGGTGGGAAATGAGAGCGCAGCATGCACCCTGATCAGGAGGCAGCCATCAGCAGGAACTTACGATCCTCCAGGTCAGGAACTGGTTCCAGAAGGACGCACCCTCCTCCAAGCTGAACAGGACCCCACCTGGAAGGCAGGCGGCCGGCTCGGGTGCCAGCTGGACACAGGGCACCATGCCCACCACCAACTCCCTCCCCCAGGCTCCAGGGAACCCAGACCACGTCAGAAAGAAGCTAATGGGGTGGGCCCCAGCCACACAGAGAGGGACCCTGAGGGAGGTCTGAGGGCTGGACCCAAGTACACTGCCGGCCGCTTCCAAATGCCCCGGCCGTGACTCCAAGCCTCTGCCACCCTCAGCGGGCACTGGGCCTACAGAGAGGAGACCGTTCCTTCCAACACACAGGGCGAGGGCAAAGCATTGGACCCGGTGCGGCCCTCCTCACCCACGGGGGCTCCAAACGCCGCTGACACTCCGGCCGCAGCCCCTGCGGAGACGAAGTCCCGCTTCTCTGTGTCTCTGCGGAAGTACTCGAAGATCTGCAACAGGGACAGACCAGGGTCGGGGCAGGTTCCTTGAGGGCACGGCTCTCAGAAAGGGAGAGCAACTGCCAGGACAGGGGCTGTGCAGGGGAAGGGGCTTTCAGGACAACCGAGTCAGCAGCTCTGATTCCTGAAGAGCACCGTGCTGCAGACCACGGCAAGAGACAGCAGGGTCAGCACCACCACCGGCAGCCCAGGGAAACACGCAAACACCCAGCCAGGAGCTCCACTTTCCAGCGCACGCAAGATTCCAAAAACCTCTACCCTCTAACGAAAAGCGCACGGATGGAAACCCAGCCTTGCTGTTCTTTGTCCTGCGGGACGCTGCCTGCCTCTAAATTCACACATGGCCGGCGCGGTGCCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCCGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAACTTAGCCAGGCGTGGTGGCGGGCACCTATAATCCCAGCTACTCGGGATGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCAACAGAGAGACTCCATCTCAAAAAAAAAAAAAAAATACAATCACACACAAATGCAGCTCAATCCCCATCAACATGCTGGGGACTTTTTTGGGGAAAAAGTGTTCCAAAGTGTGTCTTGACAAATAAACAACAGGTGGGCACACTTGGTCTCAGGTTCTGCACTCCTCTGAGAAGCCGCTTGGAGCCACAGACCCTCCCACGGGAAACACTGATGCACGTGTGGCAGGGGACCCAAGGAGGGAAGCAGCGGGCCGTAGGGAGGCCTTGCCGGGCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCAGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCCGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTTTGGACCTGAGCCGTAAAACAGCACACACAGCCCCGATCAGGCAGAGTGGCTGGGACACGGGGCCTCCGGGAGGGGGCCAGCACCCCCAGGCTGGGTCTCCCCATGGCCACAGTGGAGCTAAACAGCAGCCAAGCGTCCCCCGCACTCACTCGGGGGACCTGCCCTCTGTGGCCTCAGCACTGAGCAGGCAAGGGGTTCTTTCGTTTCCTTCCTTCCTGAGGCAAAGCTGGGCCGCCCACCGCATCCTACAGGCACACCTGCCTCCGCCAGCGTGGCCAGCACAGGGGAGGTGTTCCCGCTAGCCCCGCCTAGCAAGGCTCCTCATACACCCCTGGCACTGGAAGGCTGGTCACCTGCGGCTCCACGATGCCCCCTCTCCCTTCGGCTGCTCCCCGCCCCCAGGGGCCTCATCCTCTCCACCTGAGAAGGTGTGTAAGGTGTTTATCAGCCTCCCTGCCCCAGGGCAGAACCCACAAGGGCGCAGACCCTAAACACAAGGGCGCTGAGTGTGTGGGGGAGGACTGTATGTTAAAGATGCCGAGCAAACTCAACCCTCAGCCAACAAAAGTTATAGAGCAACATCCAAGAAGGTTCAGGCCAGCCTGGCGCGGGTGACAGGCGGGTCGCCATTCCCAGCTGCTCCAGTAAACCTGATCTCCCACCACAGGGCAGGGGCACCCCAAGGTCACCTGGGAGCTTTCGCCAGAGGGGACACACTGGTCCCGCTCCTTGGCCACGGGGACCAGGCCCCGGAAGCACCCCCAGGGGGCAGCGGCCATGCTGCCCACCCATCCTCAGACGGGACGGGGCTGCGGCAAGTCTCAGGCTAAGGAACGATGGCGGCACAGACAGAAGCAACCACAGCGGAACTGGGTCAGGACTCCCAGCACCTCCAGAACCAGATGCTCTGATAACACCAAGTGTAAATGACCATGAGGCAAACTGAAAGCGGGAAACTGCTACACGCCCACTACCACGACAGCTTCCACGGTGAATCAGTCACCACCACGCAGCCCACAGTCACAGACGCGTCGCACAGCTGTGTCACACATGCACCACGCAAGCATTTCTGTATGACTACTCATTTCTTACGTAATTTAATATGTGCAAATACCAGTTGTTACCACTTTCAGAAAAAAAGGTGACCCCTTCACACCCAGCCAGCCCATCTGCACACAGTGCCACCAGTACACAGGGTGGCTGAGGCCAGTTCTGGAAGGCAGGCAGCCAAGAGAGCTGCTCCTGAACCAGCAAAGAGCGGGCGCCCACCCTGCCCAGCCAGGGCCACCGCACCCTCACCTTGAGCCGCACCACGTGGGGGATCTTCACCCCGTTGAGGAAGCACTTGATCTGGGGGATTCCGCTGCCAGCAGCCACCGGCTGAAAGAGGGGAAGCACGGCTGAGTGGGTCACGGCCAGGCTGAGACAGATGCAGCCCCTCAGCCCCAGGAGCCCCAGGAGCTGAGGAGAGCAGCAGACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACAAACGTCGGGGCCCCAGGGAAGGGAAGAGCAGCACACACGTCAGGGCCCCAGGGAA 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Task1_train_22037 | The gene CLCN7 (chloride voltage-gated channel 7) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | CCATGGTGGGAAATGAGAGCGCAGCATGCACCCTGATCAGGAGGCAGCCATCAGCAGGAACTTACGATCCTCCAGGTCAGGAACTGGTTCCAGAAGGACGCACCCTCCTCCAAGCTGAACAGGACCCCACCTGGAAGGCAGGCGGCCGGCTCGGGTGCCAGCTGGACACAGGGCACCATGCCCACCACCAACTCCCTCCCCCAGGCTCCAGGGAACCCAGACCACGTCAGAAAGAAGCTAATGGGGTGGGCCCCAGCCACACAGAGAGGGACCCTGAGGGAGGTCTGAGGGCTGGACCCAAGTACACTGCCGGCCGCTTCCAAATGCCCCGGCCGTGACTCCAAGCCTCTGCCACCCTCAGCGGGCACTGGGCCTACAGAGAGGAGACCGTTCCTTCCAACACACAGGGCGAGGGCAAAGCATTGGACCCGGTGCGGCCCTCCTCACCCACGGGGGCTCCAAACGCCGCTGACACTCCGGCCGCAGCCCCTGCGGAGACGAAGTCCCGCTTCTCTGTGTCTCTGCGGAAGTACTCGAAGATCTGCAACAGGGACAGACCAGGGTCGGGGCAGGTTCCTTGAGGGCACGGCTCTCAGAAAGGGAGAGCAACTGCCAGGACAGGGGCTGTGCAGGGGAAGGGGCTTTCAGGACAACCGAGTCAGCAGCTCTGATTCCTGAAGAGCACCGTGCTGCAGACCACGGCAAGAGACAGCAGGGTCAGCACCACCACCGGCAGCCCAGGGAAACACGCAAACACCCAGCCAGGAGCTCCACTTTCCAGCGCACGCAAGATTCCAAAAACCTCTACCCTCTAACGAAAAGCGCACGGATGGAAACCCAGCCTTGCTGTTCTTTGTCCTGCGGGACGCTGCCTGCCTCTAAATTCACACATGGCCGGCGCGGTGCCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCCGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAACTTAGCCAGGCGTGGTGGCGGGCACCTATAATCCCAGCTACTCGGGATGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCAACAGAGAGACTCCATCTCAAAAAAAAAAAAAAAATACAATCACACACAAATGCAGCTCAATCCCCATCAACATGCTGGGGACTTTTTTGGGGAAAAAGTGTTCCAAAGTGTGTCTTGACAAATAAACAACAGGTGGGCACACTTGGTCTCAGGTTCTGCACTCCTCTGAGAAGCCGCTTGGAGCCACAGACCCTCCCACGGGAAACACTGATGCACGTGTGGCAGGGGACCCAAGGAGGGAAGCAGCGGGCCGTAGGGAGGCCTTGCCGGGCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCCGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTTTGGACCTGAGCCGTAAAACAGCACACACAGCCCCGATCAGGCAGAGTGGCTGGGACACGGGGCCTCCGGGAGGGGGCCAGCACCCCCAGGCTGGGTCTCCCCATGGCCACAGTGGAGCTAAACAGCAGCCAAGCGTCCCCCGCACTCACTCGGGGGACCTGCCCTCTGTGGCCTCAGCACTGAGCAGGCAAGGGGTTCTTTCGTTTCCTTCCTTCCTGAGGCAAAGCTGGGCCGCCCACCGCATCCTACAGGCACACCTGCCTCCGCCAGCGTGGCCAGCACAGGGGAGGTGTTCCCGCTAGCCCCGCCTAGCAAGGCTCCTCATACACCCCTGGCACTGGAAGGCTGGTCACCTGCGGCTCCACGATGCCCCCTCTCCCTTCGGCTGCTCCCCGCCCCCAGGGGCCTCATCCTCTCCACCTGAGAAGGTGTGTAAGGTGTTTATCAGCCTCCCTGCCCCAGGGCAGAACCCACAAGGGCGCAGACCCTAAACACAAGGGCGCTGAGTGTGTGGGGGAGGACTGTATGTTAAAGATGCCGAGCAAACTCAACCCTCAGCCAACAAAAGTTATAGAGCAACATCCAAGAAGGTTCAGGCCAGCCTGGCGCGGGTGACAGGCGGGTCGCCATTCCCAGCTGCTCCAGTAAACCTGATCTCCCACCACAGGGCAGGGGCACCCCAAGGTCACCTGGGAGCTTTCGCCAGAGGGGACACACTGGTCCCGCTCCTTGGCCACGGGGACCAGGCCCCGGAAGCACCCCCAGGGGGCAGCGGCCATGCTGCCCACCCATCCTCAGACGGGACGGGGCTGCGGCAAGTCTCAGGCTAAGGAACGATGGCGGCACAGACAGAAGCAACCACAGCGGAACTGGGTCAGGACTCCCAGCACCTCCAGAACCAGATGCTCTGATAACACCAAGTGTAAATGACCATGAGGCAAACTGAAAGCGGGAAACTGCTACACGCCCACTACCACGACAGCTTCCACGGTGAATCAGTCACCACCACGCAGCCCACAGTCACAGACGCGTCGCACAGCTGTGTCACACATGCACCACGCAAGCATTTCTGTATGACTACTCATTTCTTACGTAATTTAATATGTGCAAATACCAGTTGTTACCACTTTCAGAAAAAAAGGTGACCCCTTCACACCCAGCCAGCCCATCTGCACACAGTGCCACCAGTACACAGGGTGGCTGAGGCCAGTTCTGGAAGGCAGGCAGCCAAGAGAGCTGCTCCTGAACCAGCAAAGAGCGGGCGCCCACCCTGCCCAGCCAGGGCCACCGCACCCTCACCTTGAGCCGCACCACGTGGGGGATCTTCACCCCGTTGAGGAAGCACTTGATCTGGGGGATTCCGCTGCCAGCAGCCACCGGCTGAAAGAGGGGAAGCACGGCTGAGTGGGTCACGGCCAGGCTGAGACAGATGCAGCCCCTCAGCCCCAGGAGCCCCAGGAGCTGAGGAGAGCAGCAGACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACAAACGTCGGGGCCCCAGGGAAGGGAAGAGCAGCACACACGTCAGGGCCCCAGGGAAGGGGAGAGCAGCGCACACGTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACGTCGGGGCATCAGGGAAGGGGAGAGCAGCACACGCGTCGGGGCCTCAGGGAAGGGGAGAGCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGAGCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGAGCGGCACACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGA 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CCATGGTGGGAAATGAGAGCGCAGCATGCACCCTGATCAGGAGGCAGCCATCAGCAGGAACTTACGATCCTCCAGGTCAGGAACTGGTTCCAGAAGGACGCACCCTCCTCCAAGCTGAACAGGACCCCACCTGGAAGGCAGGCGGCCGGCTCGGGTGCCAGCTGGACACAGGGCACCATGCCCACCACCAACTCCCTCCCCCAGGCTCCAGGGAACCCAGACCACGTCAGAAAGAAGCTAATGGGGTGGGCCCCAGCCACACAGAGAGGGACCCTGAGGGAGGTCTGAGGGCTGGACCCAAGTACACTGCCGGCCGCTTCCAAATGCCCCGGCCGTGACTCCAAGCCTCTGCCACCCTCAGCGGGCACTGGGCCTACAGAGAGGAGACCGTTCCTTCCAACACACAGGGCGAGGGCAAAGCATTGGACCCGGTGCGGCCCTCCTCACCCACGGGGGCTCCAAACGCCGCTGACACTCCGGCCGCAGCCCCTGCGGAGACGAAGTCCCGCTTCTCTGTGTCTCTGCGGAAGTACTCGAAGATCTGCAACAGGGACAGACCAGGGTCGGGGCAGGTTCCTTGAGGGCACGGCTCTCAGAAAGGGAGAGCAACTGCCAGGACAGGGGCTGTGCAGGGGAAGGGGCTTTCAGGACAACCGAGTCAGCAGCTCTGATTCCTGAAGAGCACCGTGCTGCAGACCACGGCAAGAGACAGCAGGGTCAGCACCACCACCGGCAGCCCAGGGAAACACGCAAACACCCAGCCAGGAGCTCCACTTTCCAGCGCACGCAAGATTCCAAAAACCTCTACCCTCTAACGAAAAGCGCACGGATGGAAACCCAGCCTTGCTGTTCTTTGTCCTGCGGGACGCTGCCTGCCTCTAAATTCACACATGGCCGGCGCGGTGCCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCCGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAAACTTAGCCAGGCGTGGTGGCGGGCACCTATAATCCCAGCTACTCGGGATGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCAACAGAGAGACTCCATCTCAAAAAAAAAAAAAAAATACAATCACACACAAATGCAGCTCAATCCCCATCAACATGCTGGGGACTTTTTTGGGGAAAAAGTGTTCCAAAGTGTGTCTTGACAAATAAACAACAGGTGGGCACACTTGGTCTCAGGTTCTGCACTCCTCTGAGAAGCCGCTTGGAGCCACAGACCCTCCCACGGGAAACACTGATGCACGTGTGGCAGGGGACCCAAGGAGGGAAGCAGCGGGCCGTAGGGAGGCCTTGCCGGGCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCTGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTTTGGACCTGAGCCGTAAAACAGCACACACAGCCCCGATCAGGCAGAGTGGCTGGGACACGGGGCCTCCGGGAGGGGGCCAGCACCCCCAGGCTGGGTCTCCCCATGGCCACAGTGGAGCTAAACAGCAGCCAAGCGTCCCCCGCACTCACTCGGGGGACCTGCCCTCTGTGGCCTCAGCACTGAGCAGGCAAGGGGTTCTTTCGTTTCCTTCCTTCCTGAGGCAAAGCTGGGCCGCCCACCGCATCCTACAGGCACACCTGCCTCCGCCAGCGTGGCCAGCACAGGGGAGGTGTTCCCGCTAGCCCCGCCTAGCAAGGCTCCTCATACACCCCTGGCACTGGAAGGCTGGTCACCTGCGGCTCCACGATGCCCCCTCTCCCTTCGGCTGCTCCCCGCCCCCAGGGGCCTCATCCTCTCCACCTGAGAAGGTGTGTAAGGTGTTTATCAGCCTCCCTGCCCCAGGGCAGAACCCACAAGGGCGCAGACCCTAAACACAAGGGCGCTGAGTGTGTGGGGGAGGACTGTATGTTAAAGATGCCGAGCAAACTCAACCCTCAGCCAACAAAAGTTATAGAGCAACATCCAAGAAGGTTCAGGCCAGCCTGGCGCGGGTGACAGGCGGGTCGCCATTCCCAGCTGCTCCAGTAAACCTGATCTCCCACCACAGGGCAGGGGCACCCCAAGGTCACCTGGGAGCTTTCGCCAGAGGGGACACACTGGTCCCGCTCCTTGGCCACGGGGACCAGGCCCCGGAAGCACCCCCAGGGGGCAGCGGCCATGCTGCCCACCCATCCTCAGACGGGACGGGGCTGCGGCAAGTCTCAGGCTAAGGAACGATGGCGGCACAGACAGAAGCAACCACAGCGGAACTGGGTCAGGACTCCCAGCACCTCCAGAACCAGATGCTCTGATAACACCAAGTGTAAATGACCATGAGGCAAACTGAAAGCGGGAAACTGCTACACGCCCACTACCACGACAGCTTCCACGGTGAATCAGTCACCACCACGCAGCCCACAGTCACAGACGCGTCGCACAGCTGTGTCACACATGCACCACGCAAGCATTTCTGTATGACTACTCATTTCTTACGTAATTTAATATGTGCAAATACCAGTTGTTACCACTTTCAGAAAAAAAGGTGACCCCTTCACACCCAGCCAGCCCATCTGCACACAGTGCCACCAGTACACAGGGTGGCTGAGGCCAGTTCTGGAAGGCAGGCAGCCAAGAGAGCTGCTCCTGAACCAGCAAAGAGCGGGCGCCCACCCTGCCCAGCCAGGGCCACCGCACCCTCACCTTGAGCCGCACCACGTGGGGGATCTTCACCCCGTTGAGGAAGCACTTGATCTGGGGGATTCCGCTGCCAGCAGCCACCGGCTGAAAGAGGGGAAGCACGGCTGAGTGGGTCACGGCCAGGCTGAGACAGATGCAGCCCCTCAGCCCCAGGAGCCCCAGGAGCTGAGGAGAGCAGCAGACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACAAACGTCGGGGCCCCAGGGAAGGGAAGAGCAGCACACACGTCAGGGCCCCAGGGAAGGGGAGAGCAGCGCACACGTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACGTCGGGGCATCAGGGAAGGGGAGAGCAGCACACGCGTCGGGGCCTCAGGGAAGGGGAGAGCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGAGCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGAGCGGCACACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGA 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Task1_train_22038 | A variant was discovered on Chromosome 16, affecting CLCN7 (chloride voltage-gated channel 7). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; CLCN7-related disorder | GCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCCGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTTTGGACCTGAGCCGTAAAACAGCACACACAGCCCCGATCAGGCAGAGTGGCTGGGACACGGGGCCTCCGGGAGGGGGCCAGCACCCCCAGGCTGGGTCTCCCCATGGCCACAGTGGAGCTAAACAGCAGCCAAGCGTCCCCCGCACTCACTCGGGGGACCTGCCCTCTGTGGCCTCAGCACTGAGCAGGCAAGGGGTTCTTTCGTTTCCTTCCTTCCTGAGGCAAAGCTGGGCCGCCCACCGCATCCTACAGGCACACCTGCCTCCGCCAGCGTGGCCAGCACAGGGGAGGTGTTCCCGCTAGCCCCGCCTAGCAAGGCTCCTCATACACCCCTGGCACTGGAAGGCTGGTCACCTGCGGCTCCACGATGCCCCCTCTCCCTTCGGCTGCTCCCCGCCCCCAGGGGCCTCATCCTCTCCACCTGAGAAGGTGTGTAAGGTGTTTATCAGCCTCCCTGCCCCAGGGCAGAACCCACAAGGGCGCAGACCCTAAACACAAGGGCGCTGAGTGTGTGGGGGAGGACTGTATGTTAAAGATGCCGAGCAAACTCAACCCTCAGCCAACAAAAGTTATAGAGCAACATCCAAGAAGGTTCAGGCCAGCCTGGCGCGGGTGACAGGCGGGTCGCCATTCCCAGCTGCTCCAGTAAACCTGATCTCCCACCACAGGGCAGGGGCACCCCAAGGTCACCTGGGAGCTTTCGCCAGAGGGGACACACTGGTCCCGCTCCTTGGCCACGGGGACCAGGCCCCGGAAGCACCCCCAGGGGGCAGCGGCCATGCTGCCCACCCATCCTCAGACGGGACGGGGCTGCGGCAAGTCTCAGGCTAAGGAACGATGGCGGCACAGACAGAAGCAACCACAGCGGAACTGGGTCAGGACTCCCAGCACCTCCAGAACCAGATGCTCTGATAACACCAAGTGTAAATGACCATGAGGCAAACTGAAAGCGGGAAACTGCTACACGCCCACTACCACGACAGCTTCCACGGTGAATCAGTCACCACCACGCAGCCCACAGTCACAGACGCGTCGCACAGCTGTGTCACACATGCACCACGCAAGCATTTCTGTATGACTACTCATTTCTTACGTAATTTAATATGTGCAAATACCAGTTGTTACCACTTTCAGAAAAAAAGGTGACCCCTTCACACCCAGCCAGCCCATCTGCACACAGTGCCACCAGTACACAGGGTGGCTGAGGCCAGTTCTGGAAGGCAGGCAGCCAAGAGAGCTGCTCCTGAACCAGCAAAGAGCGGGCGCCCACCCTGCCCAGCCAGGGCCACCGCACCCTCACCTTGAGCCGCACCACGTGGGGGATCTTCACCCCGTTGAGGAAGCACTTGATCTGGGGGATTCCGCTGCCAGCAGCCACCGGCTGAAAGAGGGGAAGCACGGCTGAGTGGGTCACGGCCAGGCTGAGACAGATGCAGCCCCTCAGCCCCAGGAGCCCCAGGAGCTGAGGAGAGCAGCAGACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACAAACGTCGGGGCCCCAGGGAAGGGAAGAGCAGCACACACGTCAGGGCCCCAGGGAAGGGGAGAGCAGCGCACACGTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACGTCGGGGCATCAGGGAAGGGGAGAGCAGCACACGCGTCGGGGCCTCAGGGAAGGGGAGAGCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGAGCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGAGCGGCACACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGAGCGGCACACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACGTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGAGCAGCACACACGTCGGGGCCTCAGGGAAGGGGAGAGCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACGTCGGGGCCTCAGGGAAGGGAAGAGCAGCACACACGTTGGGGCCCCAGGGAAGGGTCTCATGTCGTTGGGGTAGCTGCTCTCACTCTTCCCAGCCCAGACACAGATCAAGGACGTGGTGGAGGCGGAGGTGGAGATGGAAGGAGGGGAGGGCAGAGTGAGGAGATGGAAGGAGGGGCGGAGTGGGGTGAGGGTGCCCAGGCCTGTGCTGGTAGGTCAGGAGCAGCACCCCAGGGCTCTGGGGGTGAAGAGGCCCTGGTGTGTCTGCTCCTCCTGAGGTTGTGAGTCTGGACCACGTGATTCTAAAAGTGCCCGGGTTGTCAGCCAATGTGATGGTGGGGGTGGGTGAGCTGCAGGGGTTCCCGCCCATTCACCAAGACCCCCAATCCTTCATGGGGTCCGCCATAGCTGCGGCATCCTGCCACCCACCTCTATGAAAGCCACAATCACAGAGCCCACGAGCACGAAGGCGGCGTTCAGCGTGGCCCACAGCAACAGGGAGAAGGACAGTCCGCCCTTCTCTGTGAACTTGTCGATATCTGGGGCTCATCAAGGAGGGCTGGCTGCTTCCCCGTCATGACCACCCAGCCCAGACCTCAGCCCTGCCCCACAGACCAGCCTGGCAGATGCCACCCTGCTGGGTGGAGCCATGATGTTCACTGGACATCCCAGAGACGTCTCACGGCCCAACCATGACAGGGACACAGCCAGCCTGGCCGGGCCGCCTCCACCTGCACTGGAACACGCTGGGCTCAGGACTTCTGCCCGGGACTCGGCCCAGGCCACGCCCCCCTCCCAAGCTGCAGCGGCCGCACTGGGAAGGATACTGCCCTTGATGACCCTGTACTTGAGGCCAGCCAGGTTTTCCACCACGATGTCAATGAAGCAGGCCACGAGGCCCGTGAGGATCCCAATGAGGGCGCAGATGACCCAGCGCTTGATCTCCACCGTCCGGAAGGCCTGCAGGGCGCGGTCAGGGCGAGGGTCAGGCAGGGCCCTGGCGCAGTCACTCTGGCAGCAGCAGGACCGCCCAGACCGCCTGCAGGCCCCGGGATTATGAAGGGCCCAGTGTGCACGGTGCGCTGAGTCCCACAAAGGACAGTTTCTGGCCAACATCTGAGGCGCACCCGGGGCCCGAGGGTGACTCGGGGAGGTGGGTGAATTCCCAACAACTTCACAGCCAGCGGTTGTTATGCTG 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GCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCCGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTTTGGACCTGAGCCGTAAAACAGCACACACAGCCCCGATCAGGCAGAGTGGCTGGGACACGGGGCCTCCGGGAGGGGGCCAGCACCCCCAGGCTGGGTCTCCCCATGGCCACAGTGGAGCTAAACAGCAGCCAAGCGTCCCCCGCACTCACTCGGGGGACCTGCCCTCTGTGGCCTCAGCACTGAGCAGGCAAGGGGTTCTTTCGTTTCCTTCCTTCCTGAGGCAAAGCTGGGCCGCCCACCGCATCCTACAGGCACACCTGCCTCCGCCAGCGTGGCCAGCACAGGGGAGGTGTTCCCGCTAGCCCCGCCTAGCAAGGCTCCTCATACACCCCTGGCACTGGAAGGCTGGTCACCTGCGGCTCCACGATGCCCCCTCTCCCTTCGGCTGCTCCCCGCCCCCAGGGGCCTCATCCTCTCCACCTGAGAAGGTGTGTAAGGTGTTTATCAGCCTCCCTGCCCCAGGGCAGAACCCACAAGGGCGCAGACCCTAAACACAAGGGCGCTGAGTGTGTGGGGGAGGACTGTATGTTAAAGATGCCGAGCAAACTCAACCCTCAGCCAACAAAAGTTATAGAGCAACATCCAAGAAGGTTCAGGCCAGCCTGGCGCGGGTGACAGGCGGGTCGCCATTCCCAGCTGCTCCAGTAAACCTGATCTCCCACCACAGGGCAGGGGCACCCCAAGGTCACCTGGGAGCTTTCGCCAGAGGGGACACACTGGTCCCGCTCCTTGGCCACGGGGACCAGGCCCCGGAAGCACCCCCAGGGGGCAGCGGCCATGCTGCCCACCCATCCTCAGACGGGACGGGGCTGCGGCAAGTCTCAGGCTAAGGAACGATGGCGGCACAGACAGAAGCAACCACAGCGGAACTGGGTCAGGACTCCCAGCACCTCCAGAACCAGATGCTCTGATAACACCAAGTGTAAATGACCATGAGGCAAACTGAAAGCGGGAAACTGCTACACGCCCACTACCACGACAGCTTCCACGGTGAATCAGTCACCACCACGCAGCCCACAGTCACAGACGCGTCGCACAGCTGTGTCACACATGCACCACGCAAGCATTTCTGTATGACTACTCATTTCTTACGTAATTTAATATGTGCAAATACCAGTTGTTACCACTTTCAGAAAAAAAGGTGACCCCTTCACACCCAGCCAGCCCATCTGCACACAGTGCCACCAGTACACAGGGTGGCTGAGGCCAGTTCTGGAAGGCAGGCAGCCAAGAGAGCTGCTCCTGAACCAGCAAAGAGCGGGCGCCCACCCTGCCCAGCCAGGGCCACCGCACCCTCACCTTGAGCCGCACCACGTGGGGGATCTTCACCCTGTTGAGGAAGCACTTGATCTGGGGGATTCCGCTGCCAGCAGCCACCGGCTGAAAGAGGGGAAGCACGGCTGAGTGGGTCACGGCCAGGCTGAGACAGATGCAGCCCCTCAGCCCCAGGAGCCCCAGGAGCTGAGGAGAGCAGCAGACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACAAACGTCGGGGCCCCAGGGAAGGGAAGAGCAGCACACACGTCAGGGCCCCAGGGAAGGGGAGAGCAGCGCACACGTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACGTCGGGGCATCAGGGAAGGGGAGAGCAGCACACGCGTCGGGGCCTCAGGGAAGGGGAGAGCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGAGCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGAGCGGCACACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGAGCGGCACACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACGTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGAGCAGCACACACGTCGGGGCCTCAGGGAAGGGGAGAGCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACGTCGGGGCCTCAGGGAAGGGAAGAGCAGCACACACGTTGGGGCCCCAGGGAAGGGTCTCATGTCGTTGGGGTAGCTGCTCTCACTCTTCCCAGCCCAGACACAGATCAAGGACGTGGTGGAGGCGGAGGTGGAGATGGAAGGAGGGGAGGGCAGAGTGAGGAGATGGAAGGAGGGGCGGAGTGGGGTGAGGGTGCCCAGGCCTGTGCTGGTAGGTCAGGAGCAGCACCCCAGGGCTCTGGGGGTGAAGAGGCCCTGGTGTGTCTGCTCCTCCTGAGGTTGTGAGTCTGGACCACGTGATTCTAAAAGTGCCCGGGTTGTCAGCCAATGTGATGGTGGGGGTGGGTGAGCTGCAGGGGTTCCCGCCCATTCACCAAGACCCCCAATCCTTCATGGGGTCCGCCATAGCTGCGGCATCCTGCCACCCACCTCTATGAAAGCCACAATCACAGAGCCCACGAGCACGAAGGCGGCGTTCAGCGTGGCCCACAGCAACAGGGAGAAGGACAGTCCGCCCTTCTCTGTGAACTTGTCGATATCTGGGGCTCATCAAGGAGGGCTGGCTGCTTCCCCGTCATGACCACCCAGCCCAGACCTCAGCCCTGCCCCACAGACCAGCCTGGCAGATGCCACCCTGCTGGGTGGAGCCATGATGTTCACTGGACATCCCAGAGACGTCTCACGGCCCAACCATGACAGGGACACAGCCAGCCTGGCCGGGCCGCCTCCACCTGCACTGGAACACGCTGGGCTCAGGACTTCTGCCCGGGACTCGGCCCAGGCCACGCCCCCCTCCCAAGCTGCAGCGGCCGCACTGGGAAGGATACTGCCCTTGATGACCCTGTACTTGAGGCCAGCCAGGTTTTCCACCACGATGTCAATGAAGCAGGCCACGAGGCCCGTGAGGATCCCAATGAGGGCGCAGATGACCCAGCGCTTGATCTCCACCGTCCGGAAGGCCTGCAGGGCGCGGTCAGGGCGAGGGTCAGGCAGGGCCCTGGCGCAGTCACTCTGGCAGCAGCAGGACCGCCCAGACCGCCTGCAGGCCCCGGGATTATGAAGGGCCCAGTGTGCACGGTGCGCTGAGTCCCACAAAGGACAGTTTCTGGCCAACATCTGAGGCGCACCCGGGGCCCGAGGGTGACTCGGGGAGGTGGGTGAATTCCCAACAACTTCACAGCCAGCGGTTGTTATGCTG 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Task1_train_22039 | A variant has been detected on Chromosome 16 in CLCN7 (chloride voltage-gated channel 7). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal dominant osteopetrosis 2 | GCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCCGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTTTGGACCTGAGCCGTAAAACAGCACACACAGCCCCGATCAGGCAGAGTGGCTGGGACACGGGGCCTCCGGGAGGGGGCCAGCACCCCCAGGCTGGGTCTCCCCATGGCCACAGTGGAGCTAAACAGCAGCCAAGCGTCCCCCGCACTCACTCGGGGGACCTGCCCTCTGTGGCCTCAGCACTGAGCAGGCAAGGGGTTCTTTCGTTTCCTTCCTTCCTGAGGCAAAGCTGGGCCGCCCACCGCATCCTACAGGCACACCTGCCTCCGCCAGCGTGGCCAGCACAGGGGAGGTGTTCCCGCTAGCCCCGCCTAGCAAGGCTCCTCATACACCCCTGGCACTGGAAGGCTGGTCACCTGCGGCTCCACGATGCCCCCTCTCCCTTCGGCTGCTCCCCGCCCCCAGGGGCCTCATCCTCTCCACCTGAGAAGGTGTGTAAGGTGTTTATCAGCCTCCCTGCCCCAGGGCAGAACCCACAAGGGCGCAGACCCTAAACACAAGGGCGCTGAGTGTGTGGGGGAGGACTGTATGTTAAAGATGCCGAGCAAACTCAACCCTCAGCCAACAAAAGTTATAGAGCAACATCCAAGAAGGTTCAGGCCAGCCTGGCGCGGGTGACAGGCGGGTCGCCATTCCCAGCTGCTCCAGTAAACCTGATCTCCCACCACAGGGCAGGGGCACCCCAAGGTCACCTGGGAGCTTTCGCCAGAGGGGACACACTGGTCCCGCTCCTTGGCCACGGGGACCAGGCCCCGGAAGCACCCCCAGGGGGCAGCGGCCATGCTGCCCACCCATCCTCAGACGGGACGGGGCTGCGGCAAGTCTCAGGCTAAGGAACGATGGCGGCACAGACAGAAGCAACCACAGCGGAACTGGGTCAGGACTCCCAGCACCTCCAGAACCAGATGCTCTGATAACACCAAGTGTAAATGACCATGAGGCAAACTGAAAGCGGGAAACTGCTACACGCCCACTACCACGACAGCTTCCACGGTGAATCAGTCACCACCACGCAGCCCACAGTCACAGACGCGTCGCACAGCTGTGTCACACATGCACCACGCAAGCATTTCTGTATGACTACTCATTTCTTACGTAATTTAATATGTGCAAATACCAGTTGTTACCACTTTCAGAAAAAAAGGTGACCCCTTCACACCCAGCCAGCCCATCTGCACACAGTGCCACCAGTACACAGGGTGGCTGAGGCCAGTTCTGGAAGGCAGGCAGCCAAGAGAGCTGCTCCTGAACCAGCAAAGAGCGGGCGCCCACCCTGCCCAGCCAGGGCCACCGCACCCTCACCTTGAGCCGCACCACGTGGGGGATCTTCACCCCGTTGAGGAAGCACTTGATCTGGGGGATTCCGCTGCCAGCAGCCACCGGCTGAAAGAGGGGAAGCACGGCTGAGTGGGTCACGGCCAGGCTGAGACAGATGCAGCCCCTCAGCCCCAGGAGCCCCAGGAGCTGAGGAGAGCAGCAGACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACAAACGTCGGGGCCCCAGGGAAGGGAAGAGCAGCACACACGTCAGGGCCCCAGGGAAGGGGAGAGCAGCGCACACGTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACGTCGGGGCATCAGGGAAGGGGAGAGCAGCACACGCGTCGGGGCCTCAGGGAAGGGGAGAGCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGAGCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGAGCGGCACACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGAGCGGCACACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACGTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGAGCAGCACACACGTCGGGGCCTCAGGGAAGGGGAGAGCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACGTCGGGGCCTCAGGGAAGGGAAGAGCAGCACACACGTTGGGGCCCCAGGGAAGGGTCTCATGTCGTTGGGGTAGCTGCTCTCACTCTTCCCAGCCCAGACACAGATCAAGGACGTGGTGGAGGCGGAGGTGGAGATGGAAGGAGGGGAGGGCAGAGTGAGGAGATGGAAGGAGGGGCGGAGTGGGGTGAGGGTGCCCAGGCCTGTGCTGGTAGGTCAGGAGCAGCACCCCAGGGCTCTGGGGGTGAAGAGGCCCTGGTGTGTCTGCTCCTCCTGAGGTTGTGAGTCTGGACCACGTGATTCTAAAAGTGCCCGGGTTGTCAGCCAATGTGATGGTGGGGGTGGGTGAGCTGCAGGGGTTCCCGCCCATTCACCAAGACCCCCAATCCTTCATGGGGTCCGCCATAGCTGCGGCATCCTGCCACCCACCTCTATGAAAGCCACAATCACAGAGCCCACGAGCACGAAGGCGGCGTTCAGCGTGGCCCACAGCAACAGGGAGAAGGACAGTCCGCCCTTCTCTGTGAACTTGTCGATATCTGGGGCTCATCAAGGAGGGCTGGCTGCTTCCCCGTCATGACCACCCAGCCCAGACCTCAGCCCTGCCCCACAGACCAGCCTGGCAGATGCCACCCTGCTGGGTGGAGCCATGATGTTCACTGGACATCCCAGAGACGTCTCACGGCCCAACCATGACAGGGACACAGCCAGCCTGGCCGGGCCGCCTCCACCTGCACTGGAACACGCTGGGCTCAGGACTTCTGCCCGGGACTCGGCCCAGGCCACGCCCCCCTCCCAAGCTGCAGCGGCCGCACTGGGAAGGATACTGCCCTTGATGACCCTGTACTTGAGGCCAGCCAGGTTTTCCACCACGATGTCAATGAAGCAGGCCACGAGGCCCGTGAGGATCCCAATGAGGGCGCAGATGACCCAGCGCTTGATCTCCACCGTCCGGAAGGCCTGCAGGGCGCGGTCAGGGCGAGGGTCAGGCAGGGCCCTGGCGCAGTCACTCTGGCAGCAGCAGGACCGCCCAGACCGCCTGCAGGCCCCGGGATTATGAAGGGCCCAGTGTGCACGGTGCGCTGAGTCCCACAAAGGACAGTTTCTGGCCAACATCTGAGGCGCACCCGGGGCCCGAGGGTGACTCGGGGAGGTGGGTGAATTCCCAACAACTTCACAGCCAGCGGTTGTTATGCTG 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GCAGGGACTGTGCCCGCTGGCTCTGGGAGCCACCCGCCAGGCTGTCCTCAGATGGGGCTGGGGCTCTCGGCCTGGGGGTGCTGAGGGAAGCCCATCTCCCTGAGTGGTGCCCGTGCCCGTGCCCATGGCATCTGGAGCCCACCCACACAAGATTTCAACTCACCTTGAAATCTCGTTTCAGTGACGTTGACCTTCCCTGAGAGATCCCGGCGGCAATCACTGAACCTGAGTGGATCATCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACACATGGGCGTGGCGGCCCTCGCGGGCCCGGCGGCCTCAGGCTCCAGCTGGAGTGGCCATGTGCACTTTGTTACCTTTCCCACGGCCAGGCCCCCGACCACGGACAGGATCACACCGGACACTTTGATCACCAACGTCTGAAACACAGGGAGACGCATGGCCTCTGATGAAAAGGCAGGCGCTGTCTTTGGACCTGAGCCGTAAAACAGCACACACAGCCCCGATCAGGCAGAGTGGCTGGGACACGGGGCCTCCGGGAGGGGGCCAGCACCCCCAGGCTGGGTCTCCCCATGGCCACAGTGGAGCTAAACAGCAGCCAAGCGTCCCCCGCACTCACTCGGGGGACCTGCCCTCTGTGGCCTCAGCACTGAGCAGGCAAGGGGTTCTTTCGTTTCCTTCCTTCCTGAGGCAAAGCTGGGCCGCCCACCGCATCCTACAGGCACACCTGCCTCCGCCAGCGTGGCCAGCACAGGGGAGGTGTTCCCGCTAGCCCCGCCTAGCAAGGCTCCTCATACACCCCTGGCACTGGAAGGCTGGTCACCTGCGGCTCCACGATGCCCCCTCTCCCTTCGGCTGCTCCCCGCCCCCAGGGGCCTCATCCTCTCCACCTGAGAAGGTGTGTAAGGTGTTTATCAGCCTCCCTGCCCCAGGGCAGAACCCACAAGGGCGCAGACCCTAAACACAAGGGCGCTGAGTGTGTGGGGGAGGACTGTATGTTAAAGATGCCGAGCAAACTCAACCCTCAGCCAACAAAAGTTATAGAGCAACATCCAAGAAGGTTCAGGCCAGCCTGGCGCGGGTGACAGGCGGGTCGCCATTCCCAGCTGCTCCAGTAAACCTGATCTCCCACCACAGGGCAGGGGCACCCCAAGGTCACCTGGGAGCTTTCGCCAGAGGGGACACACTGGTCCCGCTCCTTGGCCACGGGGACCAGGCCCCGGAAGCACCCCCAGGGGGCAGCGGCCATGCTGCCCACCCATCCTCAGACGGGACGGGGCTGCGGCAAGTCTCAGGCTAAGGAACGATGGCGGCACAGACAGAAGCAACCACAGCGGAACTGGGTCAGGACTCCCAGCACCTCCAGAACCAGATGCTCTGATAACACCAAGTGTAAATGACCATGAGGCAAACTGAAAGCGGGAAACTGCTACACGCCCACTACCACGACAGCTTCCACGGTGAATCAGTCACCACCACGCAGCCCACAGTCACAGACGCGTCGCACAGCTGTGTCACACATGCACCACGCAAGCATTTCTGTATGACTACTCATTTCTTACGTAATTTAATATGTGCAAATACCAGTTGTTACCACTTTCAGAAAAAAAGGTGACCCCTTCACACCCAGCCAGCCCATCTGCACACAGTGCCACCAGTACACAGGGTGGCTGAGGCCAGTTCTGGAAGGCAGGCAGCCAAGAGAGCTGCTCCTGAACCAGCAAAGAGCGGGCGCCCACCCTGCCCAGCCAGGGCCACCGCACCCTCACCTTGAGCCGCACCACGTGGGGGATCTTCACCCTGTTGAGGAAGCACTTGATCTGGGGGATTCCGCTGCCAGCAGCCACCGGCTGAAAGAGGGGAAGCACGGCTGAGTGGGTCACGGCCAGGCTGAGACAGATGCAGCCCCTCAGCCCCAGGAGCCCCAGGAGCTGAGGAGAGCAGCAGACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACAAACGTCGGGGCCCCAGGGAAGGGAAGAGCAGCACACACGTCAGGGCCCCAGGGAAGGGGAGAGCAGCGCACACGTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACGTCGGGGCATCAGGGAAGGGGAGAGCAGCACACGCGTCGGGGCCTCAGGGAAGGGGAGAGCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGAGCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGAGCGGCACACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGAGCGGCACACACGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACGTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGAGCAGCACACACGTCGGGGCCTCAGGGAAGGGGAGAGCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACGTCGGGGCCTCAGGGAAGGGAAGAGCAGCACACACGTTGGGGCCCCAGGGAAGGGTCTCATGTCGTTGGGGTAGCTGCTCTCACTCTTCCCAGCCCAGACACAGATCAAGGACGTGGTGGAGGCGGAGGTGGAGATGGAAGGAGGGGAGGGCAGAGTGAGGAGATGGAAGGAGGGGCGGAGTGGGGTGAGGGTGCCCAGGCCTGTGCTGGTAGGTCAGGAGCAGCACCCCAGGGCTCTGGGGGTGAAGAGGCCCTGGTGTGTCTGCTCCTCCTGAGGTTGTGAGTCTGGACCACGTGATTCTAAAAGTGCCCGGGTTGTCAGCCAATGTGATGGTGGGGGTGGGTGAGCTGCAGGGGTTCCCGCCCATTCACCAAGACCCCCAATCCTTCATGGGGTCCGCCATAGCTGCGGCATCCTGCCACCCACCTCTATGAAAGCCACAATCACAGAGCCCACGAGCACGAAGGCGGCGTTCAGCGTGGCCCACAGCAACAGGGAGAAGGACAGTCCGCCCTTCTCTGTGAACTTGTCGATATCTGGGGCTCATCAAGGAGGGCTGGCTGCTTCCCCGTCATGACCACCCAGCCCAGACCTCAGCCCTGCCCCACAGACCAGCCTGGCAGATGCCACCCTGCTGGGTGGAGCCATGATGTTCACTGGACATCCCAGAGACGTCTCACGGCCCAACCATGACAGGGACACAGCCAGCCTGGCCGGGCCGCCTCCACCTGCACTGGAACACGCTGGGCTCAGGACTTCTGCCCGGGACTCGGCCCAGGCCACGCCCCCCTCCCAAGCTGCAGCGGCCGCACTGGGAAGGATACTGCCCTTGATGACCCTGTACTTGAGGCCAGCCAGGTTTTCCACCACGATGTCAATGAAGCAGGCCACGAGGCCCGTGAGGATCCCAATGAGGGCGCAGATGACCCAGCGCTTGATCTCCACCGTCCGGAAGGCCTGCAGGGCGCGGTCAGGGCGAGGGTCAGGCAGGGCCCTGGCGCAGTCACTCTGGCAGCAGCAGGACCGCCCAGACCGCCTGCAGGCCCCGGGATTATGAAGGGCCCAGTGTGCACGGTGCGCTGAGTCCCACAAAGGACAGTTTCTGGCCAACATCTGAGGCGCACCCGGGGCCCGAGGGTGACTCGGGGAGGTGGGTGAATTCCCAACAACTTCACAGCCAGCGGTTGTTATGCTG 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Task1_train_22040 | This sequence variant lies in TELO2 (telomere maintenance 2) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; TELO2-related intellectual disability-neurodevelopmental disorder | GACTCTCTCTAGACGGGGGCCCGAGGGAGGCTGGGGTTAAGGGGGCCACCCCCTGCAGTTTGTCCGGCCGGGGCTGCAGGGCAGCCAGGTCGCTCTGGGTCGGTGGCCGTGGGTGTCAGCCTCTCTGCTGCCGGCTGCCTGGCCATGGAGGAGCCCTGTCTGCCTTCAGGCTGTGGAGGTGACGGCCTGTCCTCTTATCTGCTGAGAACCTGGGATCTCTCTGGGGCATTGGCCTTGGGGGAGGCCCAGCTCCTTCGAGAGGGGCCACGGCCCCTCAGCTTTGAGCACTCCCAGTGCTACCCTTGGCCTGAGGTGGAATCTTAGAAAGTCGCTTTTAAAAAGACACCTGGCTATCCAGGGCCCAGCCACTGAGTGAGACCGGGCTGCGAGGGAGGCCACAGTGGGGAGTGGCTCCCGTGGCTCCGTCTCGGGGAGGGGCGCTGCAGCCTGGCGGATGCCGCTGAGCCTGCTCCCCTGCTGTAGTACGAAGAGGATGAACTGAGCCTCGAGCTGCTGGCCTTGGCCTCCCCCCAGCCTGCGGGTGACGGCGCCTCGGAGGCGGGGTGAGGGTCTCTGCCCCCCGGGACCCCACCGCGTGCACATCTTACTGCTCTGGATTCCGCTGCCGGGATGGGAGGGGGGAAACCCTTTCTTTCTGTCCTGTGAGTCCTGAGACCAGAGGCTCGAGGGGCCCCTAAAGGATTTTTGTTCCTTGTTTCCTTAAAGCACGTCCCTCGTTCCAGCCACGGCAGAGCCCCCTGCAGAGACCCCCGCAGAGATCGTGGATGGCGGCGTCCCCCAAGCACAGCTGGCGGGCTCTGACTCGGACCTGGACAGGTAGGGGCTCTGCCACCCCAGTGGGCAGCGTGCAGGAGGCCGGGAGGCGAACCCCTCACACTCCAAGCTGCGGCCCCGTGGGGGGCTCCCTGCCTGCTCCGTGCTTCTTCTCTTTCGTCCTCATGTGAGGGCCCGCAGCTCCCAGCTCCACCGTAGGCGCAGGGGCCGAGGCGTGAGCTCCGCATCTTGGGGAGGAGAGAGGGGCTGGCTCTGCCGTTGGGCACTTCCTGTCACAGGCCATGGGCTGCTCATGTCTGCTTTGCTCTCCCACAGCGATGATGAGTTTGTCCCCTACGACATGTCGGGGGACAGAGAGCTGAAGAGCAGCAAGGCTCCTGCCTACGTCCGGGACTGCGTGGAAGGTGGGCACGGGCCCCTGGAGGGCCTTGCTGGGCTGGGCATGGGTCCCGCTCACAGCCTGGTTCTGCCTCAAGGGGCCACCGGGAAGCCCTGGGCCCGGGGTGCCGCCCGTGCTGCTGGCTCTCATGGGTTCAGGGTCAGGGCTGAGGCTGACCGAGGCCTCTCTGGGTTCTGTGCAGCCCTGACCACGTCTGAGGACATAGAGCGCTGGGAGGCAGCCCTGCGGGCCCTTGAGGGCCTGGTCTACAGGAGCCCCACAGCCACTCGGGAGGTGAGTGGGGGGCGGGAGTGGGTGGGGAGGCCCAAGATGGTAGCTCCCTCAATGCCATCTGTGTCCTGGCCACTGAGGGTGACATATGGCTCCCGTGTGTGACAGGGCTGCTGCCTCTCCCGGGGGGCCTGCGGCCTGGGGCCTCTGCTGGGGTGGGTGGCTCCGGCCCTGTGAGCCTCGGTGAGGCCTCGGCGGGCAGCTGGGTCCGACAGGTTTCCCAGCCCTAACCCCTGCGTGCAGGTGAGCGTGGAGCTGGCCAAGGTGCTTCTGCATCTGGAGGAGAAGACCTGTGTGGTGGGATTTGCAGGGCTGCGCCAGAGAGCCCTGGTGGCCGTCACGGTCACAGACCCGGCCCCGGTGAGTTCCCGCACCCGTGGCCCTGGCCAGTGCAGGCACAGCGGGAAGCACTGGGAGCTGCGGTGCCTGAGTCTCGGTCCTGTGCTGGAGCTGGCTGTGAGGTGCCCGGAGGTCGCCCCGGGTGGCCCTCAGGTCCCGGACCACAGCAGCCTCTCCCCTGTGTCCTCAGGTGGCCGACTATCTGACCTCACAGTTCTATGCCCTCAACTACAGCCTCCGGCAGCGCATGGACATCCTGGATGTAAGTGCCTCCTGGGCCTCAGTCCCCCTGGTCTGGCCCAAGCTGCCCTAAGGTGGGGCTGCCAAAACCTGGGTCTCCTTGTTGCTGGGCCCCAAGGGCTCGTGCAGGCCTGTCCACTGCCTTCGTGAGTGTGTGACCCGGCAGGACTCAGCAGTGGGGGAGTCAGGGCTCCCGGGGCAGAGAGTTTTGTTTGTTTAAAATAACAGCTTTACTGATATAATTCACACGCCATAAAATTCACCGCTTTAGGGTAAAATGTGTGCTGCGCAGGTGAGGGAATATTATTTAGCAATGAAAAAGAAAAATTTGAATCCCAGCACTGGAAGGCTGAGGCGGGAGGATCGCTGGAGCCCAGGAGTTCGAGACCCGCTTGGGCACCACAATGAGACTCCATCTTTATTAGCCAAGTGTGGTGGTGGGCGACTGTGGTCCCAGTTACTCGGGAGGCTGGGGTGGGAGGATCCCTCGAACCCAGGAGGTGGAGGCCGCAGTGGAGCTGTTTGCACCACCGCACTCCCGTGTGGGTGAGAGAGGGAGACACTGTCTCAAAGATAATTCGACTCTGATACGCACTGCCACACGATGAGCCTTGAGAACATTTAGTTAAAGCAGCCCCAGGGCCTGTATATCGTTCGATTTCACTTAAGCGAGCCGTCCGGAGGAGCTAGTTCACGGAGAGCGGACGGGGCTGCCGGGGCTTGGGGAGGGGATGTGGAGTGAGGGTTTCACGGGGACAGTTTCAGCTTGGGAAGGCAAAAGAGTTCTGGCGAGGGCGGAGGTGATGGTTGCCCATCATGAACGTACTTATTAATGCCACGGAACTGTACACTTAAAGATGGGGAAAACGGGCTGGGCGCGGCGGCTCATGCCTGTCATCCCAGTGCTGTGGGAGACCAAAGTGGGAGGATTGCTCAAGCCCAGGAGTTTGAGATCAACCTGGTCAACATAGCAAGACCCTGTCATCTCCACCAGAAGAAAATTAGCTGGGAGTGGGGCGCCTGTGGTCCCTGCTACTCTTGAGGCTGAGGCAGGAGGATGGCTTGAGCCCAGAGGTTGAGGCTGTCGTGAGCCGTGATGGCACCACTGCCCTGCAGCCTGGGCAATAGAGCAAGACTCTGTCTCTTTAAAAAAAAAAAAAAAAAAAAAAAGCAGCCGGCCACGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAGCCGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTCGCCAACATGGTGAAACCCTGTTTCTACTAAAAACACAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAGTCCCAGTTACGTGGGAGGCTGAGGCAGGAGAATTGCTTGGACCTGGGAGGCGGAGGTTGTGGTGAGTCAAGATGGCGCCACTGCACTCCAGACTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGGAGGGGAGGGGTTAACGTGGTAAATCTTGTATATATTTTACCACAATAAAGCAAAAAAGACTGAGAACATGAGAACAACTCACCGTAACTGGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCACTGCAAGCTCCCCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTGTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCGTAACTGGTTCTAAGGTGCACACTTGGGTGGCGTTCGGAACATCCACAGTGTCACGCAGCCGCCTCTGTCTAGTCCCAGAGCGTCCTTATCACCCCAGAGGGAAACCCCATCCCTGTCAGCAGTCGCCCCGACCCTCCCAGCCTGGGAGCCTCCGGTCTGGCGCTGGCCTGTTGAGAAGGTGTCCTAGAGATGGAGGCGCACATGGGTCCTTGGTGCCTT 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GACTCTCTCTAGACGGGGGCCCGAGGGAGGCTGGGGTTAAGGGGGCCACCCCCTGCAGTTTGTCCGGCCGGGGCTGCAGGGCAGCCAGGTCGCTCTGGGTCGGTGGCCGTGGGTGTCAGCCTCTCTGCTGCCGGCTGCCTGGCCATGGAGGAGCCCTGTCTGCCTTCAGGCTGTGGAGGTGACGGCCTGTCCTCTTATCTGCTGAGAACCTGGGATCTCTCTGGGGCATTGGCCTTGGGGGAGGCCCAGCTCCTTCGAGAGGGGCCACGGCCCCTCAGCTTTGAGCACTCCCAGTGCTACCCTTGGCCTGAGGTGGAATCTTAGAAAGTCGCTTTTAAAAAGACACCTGGCTATCCAGGGCCCAGCCACTGAGTGAGACCGGGCTGCGAGGGAGGCCACAGTGGGGAGTGGCTCCCGTGGCTCCGTCTCGGGGAGGGGCGCTGCAGCCTGGCGGATGCCGCTGAGCCTGCTCCCCTGCTGTAGTACGAAGAGGATGAACTGAGCCTCGAGCTGCTGGCCTTGGCCTCCCCCCAGCCTGCGGGTGACGGCGCCTCGGAGGCGGGGTGAGGGTCTCTGCCCCCCGGGACCCCACCGCGTGCACATCTTACTGCTCTGGATTCCGCTGCCGGGATGGGAGGGGGGAAACCCTTTCTTTCTGTCCTGTGAGTCCTGAGACCAGAGGCTCGAGGGGCCCCTAAAGGATTTTTGTTCCTTGTTTCCTTAAAGCACGTCCCTCGTTCCAGCCACGGCAGAGCCCCCTGCAGAGACCCCCGCAGAGATCGTGGATGGCGGCGTCCCCCAAGCACAGCTGGCGGGCTCTGACTCGGACCTGGACAGGTAGGGGCTCTGCCACCCCAGTGGGCAGCGTGCAGGAGGCCGGGAGGCGAACCCCTCACACTCCAAGCTGCGGCCCCGTGGGGGGCTCCCTGCCTGCTCCGTGCTTCTTCTCTTTCGTCCTCATGTGAGGGCCCGCAGCTCCCAGCTCCACCGTAGGCGCAGGGGCCGAGGCGTGAGCTCCGCATCTTGGGGAGGAGAGAGGGGCTGGCTCTGCCGTTGGGCACTTCCTGTCACAGGCCATGGGCTGCTCATGTCTGCTTTGCTCTCCCACAGCGATGATGAGTTTGTCCCCTACGACATGTCGGGGGACAGAGAGCTGAAGAGCAGCAAGGCTCCTGCCTACGTCCGGGACTGCGTGGAAGGTGGGCACGGGCCCCTGGAGGGCCTTGCTGGGCTGGGCATGGGTCCCGCTCACAGCCTGGTTCTGCCTCAAGGGGCCACCGGGAAGCCCTGGGCCCGGGGTGCCGCCCGTGCTGCTGGCTCTCATGGGTTCAGGGTCAGGGCTGAGGCTGACCGAGGCCTCTCTGGGTTCTGTGCAGCCCTGACCACGTCTGAGGACATAGAGCGCTGGGAGGCAGCCCTGCGGGCCCTTGAGGGCCTGGTCTACAGGAGCCCCACAGCCACTCGGGAGGTGAGTGGGGGGCGGGAGTGGGTGGGGAGGCCCAAGATGGTAGCTCCCTCAATGCCATCTGTGTCCTGGCCACTGAGGGTGACATATGGCTCCCGTGTGTGACAGGGCTGCTGCCTCTCCCGGGGGGCCTGCGGCCTGGGGCCTCTGCTGGGGTGGGTGGCTCCGGCCCTGTGAGCCTCGGTGAGGCCTCGGCGGGCAGCTGGGTCCGACAGGTTTCCCAGCCCTAACCCCTGCGTGCAGGTGAGCGTGGAGCTGGCCAAGGTGCTTCTGCATCTGGAGGAGAAGACCTGTGTGGTGGGATTTGCAGGGCTGCGCCAGAGAGCCCTGGTGGCCGTCACGGTCACAGACCCGGCCCCGGTGAGTTCCCGCACCCGTGGCCCTGGCCAGTGCAGGCACAGCGGGAAGCACTGGGAGCTGCGGTGCCTGAGTCTCGGTCCTGTGCTGGAGCTGGCTGTGAGGTGCCCGGAGGTCGCCCCGGGTGGCCCTCAGGTCCCGGACCACAGCAGCCTCTCCCCTGTGTCCTCAGGTGGCCGACTATCTGACCTCACAGTTCTATGCCCTCAACTACAGCCTCCGGCAGTGCATGGACATCCTGGATGTAAGTGCCTCCTGGGCCTCAGTCCCCCTGGTCTGGCCCAAGCTGCCCTAAGGTGGGGCTGCCAAAACCTGGGTCTCCTTGTTGCTGGGCCCCAAGGGCTCGTGCAGGCCTGTCCACTGCCTTCGTGAGTGTGTGACCCGGCAGGACTCAGCAGTGGGGGAGTCAGGGCTCCCGGGGCAGAGAGTTTTGTTTGTTTAAAATAACAGCTTTACTGATATAATTCACACGCCATAAAATTCACCGCTTTAGGGTAAAATGTGTGCTGCGCAGGTGAGGGAATATTATTTAGCAATGAAAAAGAAAAATTTGAATCCCAGCACTGGAAGGCTGAGGCGGGAGGATCGCTGGAGCCCAGGAGTTCGAGACCCGCTTGGGCACCACAATGAGACTCCATCTTTATTAGCCAAGTGTGGTGGTGGGCGACTGTGGTCCCAGTTACTCGGGAGGCTGGGGTGGGAGGATCCCTCGAACCCAGGAGGTGGAGGCCGCAGTGGAGCTGTTTGCACCACCGCACTCCCGTGTGGGTGAGAGAGGGAGACACTGTCTCAAAGATAATTCGACTCTGATACGCACTGCCACACGATGAGCCTTGAGAACATTTAGTTAAAGCAGCCCCAGGGCCTGTATATCGTTCGATTTCACTTAAGCGAGCCGTCCGGAGGAGCTAGTTCACGGAGAGCGGACGGGGCTGCCGGGGCTTGGGGAGGGGATGTGGAGTGAGGGTTTCACGGGGACAGTTTCAGCTTGGGAAGGCAAAAGAGTTCTGGCGAGGGCGGAGGTGATGGTTGCCCATCATGAACGTACTTATTAATGCCACGGAACTGTACACTTAAAGATGGGGAAAACGGGCTGGGCGCGGCGGCTCATGCCTGTCATCCCAGTGCTGTGGGAGACCAAAGTGGGAGGATTGCTCAAGCCCAGGAGTTTGAGATCAACCTGGTCAACATAGCAAGACCCTGTCATCTCCACCAGAAGAAAATTAGCTGGGAGTGGGGCGCCTGTGGTCCCTGCTACTCTTGAGGCTGAGGCAGGAGGATGGCTTGAGCCCAGAGGTTGAGGCTGTCGTGAGCCGTGATGGCACCACTGCCCTGCAGCCTGGGCAATAGAGCAAGACTCTGTCTCTTTAAAAAAAAAAAAAAAAAAAAAAAGCAGCCGGCCACGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAGCCGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTCGCCAACATGGTGAAACCCTGTTTCTACTAAAAACACAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAGTCCCAGTTACGTGGGAGGCTGAGGCAGGAGAATTGCTTGGACCTGGGAGGCGGAGGTTGTGGTGAGTCAAGATGGCGCCACTGCACTCCAGACTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGGAGGGGAGGGGTTAACGTGGTAAATCTTGTATATATTTTACCACAATAAAGCAAAAAAGACTGAGAACATGAGAACAACTCACCGTAACTGGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCACTGCAAGCTCCCCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTGTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCGTAACTGGTTCTAAGGTGCACACTTGGGTGGCGTTCGGAACATCCACAGTGTCACGCAGCCGCCTCTGTCTAGTCCCAGAGCGTCCTTATCACCCCAGAGGGAAACCCCATCCCTGTCAGCAGTCGCCCCGACCCTCCCAGCCTGGGAGCCTCCGGTCTGGCGCTGGCCTGTTGAGAAGGTGTCCTAGAGATGGAGGCGCACATGGGTCCTTGGTGCCTT 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Task1_train_22041 | A mutation in IFT140 (intraflagellar transport 140), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Retinitis pigmentosa 80 | CTGCAGTTCCTGGCCCACCTCCTTCCCCAGAGACTCGGTACCTGCGACGTCATCATCTGGGGGCCTTGGGGGCCTGAAGCACCAGGAGGAGCAGGGGGGCCCTGTCCCTCAGCCGATCCCTTTCCACTCGGCTGGCGGGGTCCCGACAGGGTGTTCTCCTTTCACAGGCACCTCCCACAAGGGTCTACAGGTGCCTCCTCACCCTGCGATTCTAGCCCAATCTGGGGAGGAGCTGTGGCCAGCAGAGCCCCCCCAAGGCTCCCCGGGGCCCCAGGCTGCAGGAGGCCTTGGTGAGGGTCCCAGCACTGCGGGCAGCCAAGAGCTCTGGCAGTGTGCGGTCCCAGACACCCAAGAGGCCTCCCCACAGGCGGGTGGCACGCCCACCACCCGGATTCCTACGGTCTTCCACCTCCGACCACAGCCCTTGTCTGCCGTCCAGCAAGGAGCAGGCCCTGCTGGTGTTCCCGGGTTCCCCGGTTGTGCGCCCCACCCCAGGCCCCTTTCCCATGGCTGCCTGTCCCGCGGCTCAGGGCAGCCCTCCATGTACAGTGCTGCCTGCACAGAGCCTGTGGCATGCAGGCCCCAAGGCCGTGGGGAGAGTCCGGGGTCACTGCAGACCCGAGCCCCCTTTCTTCCATGGAGTCAGGCCTGGCGGGGCTGGTTCAGGCAGACTGAAGACAGGAGGAGGGAGAATACGCCCTCCACGCTGCCTCAGCTTTGCTTGTCACTCTCGTCTGGCAGACGTGGCTGAGAAAGACCCGGACGAGGACTGCAGGACGCTGGCACTGAGGGCCCTGCTGCTTCTGCAGAGACTCAAGAACAGGCTCCTCCCACCCGCGTCTCCCTAGTCCCTGGAGGCCTCCCCAGGACCACCCTCGCCGACAGCAAGGCAGGCGGCTGAGCAGCGGCCTGGAGCAGCAGAGCCAGGCTTTGTAGCGAGGCCAGGTCTTCGGCCGCATCCGGTACGGAGAGTGCAGATGCAGGAAGGCCCGGCCTGCCGCTATTTATAGTGCAGCCAGTCCGCTAAAAATACACTGGGCCTGGGCACTGCCCGCCGGGACATGGCAGCCTGGACGTGGGGCTGGGGCTGTGGGCGCTGCTGGCGGGGTTGACTCTTCCAGTGAGGGCAGAACCAGGCTGGCAGGAGGGGAGGACGGTGTACCTGCTGCTCAGAGCCCCCAAGGCTCTCCTCTGAGAGCCACCAAGCAGGACAGAGCAGCTCTTGTCCCAGGTCCCTCGGGCTGAGCGCCGTGTCACCAGGAGAATAGTGCTCACAGCCCAGGCAGGGTGTGTGGCTCCTGGATGGGCTCGTGGGGCGGGATGGGACAGGGCACGGGCTCTCAGAAAATAAACTGCTTTATTGGAATTACAGGAGTGTTGGTGGCCGGTGGGCAGAGCCTAGCAGGGGGTGCAGCCGCCAAGGCCCGGGTGTCCCAGCTGTTGCTCAGGAGCCGTGGGCCCTGCAGGAGTATGGGGAGGATATGATGTGTGGGGAGCAGGGGGGCAGGTGCCCCAGCCCTCCAGCTGCAGCTTCCTGAGGTTCTAGAAGTTTCTCAGGCTTTACAATGTGTAGTTGGGAGAATACGATGGAAGGGTGAACCCGACTCCCTTCAAAGGAATGAATCCAAAAATCTAGTGGAGCTGCCGGGCACCCAGAGGCAGGTGGGACAGAGCAAGGTGCAGACGGGTCACACCCTCCGCCGGCCCGGGCCGCTGCGTTCTCGCCCAGCTCTGTCGCGTATTCCAACACAGACATGTTTTTTCCCAGCAAAAATGCTGGCTTTGCCACAGCTGACAAAAAAATTCCAGAAGATGCCTTTCTGCAGCAGCACGCTGGTCCTGGGGCCCAGGCCCCTCAGGGGTCGTCATCTGCCTCTTCCACCACCTCCTCGTCCAGCTCCCTGGCGTCCTCCATGCTGTTGTGGCGGACCTGCTCGGGGACGGTGCGTGGCAGTGGGAGACCCAGCCCCCGGTGCACGGCGTCCACGGCCTGCGGGCTCACGTAGTAGGACATGTTGGCCAAGGGAAGCCGCCGCCGCATCTCCTCCAGGAATCTGTAGGCCTGGGGCAGAGGAGCAGACATTACTCAGCTTTCCTGAACAACCAGGCACGACCCTCTGCCTGCAGGCCAGGCACGTGCTGCTGCCCCTGGAGGCGGGTGGGGGTGCCTCCGCGCTGGAGGACACGGGGTGCACTGAGGCTTCCCATTGGTGATGGGGGAATGTGGTGATGAGGGGATGCGGTGCCCGCGGACCGCACACATGCCATGTGTGGACACTCAACAGGAAGCTTCGGTCAGCATTTCAGCTGGAAATGCAGAGCCAGGGCCCTGGAAAGTCCCTCAGCAGCTGTGCACAGGCCTGCTCACCGTGCGTGTGCGGGCAGAGCCTCCTGGGGAGGCAGAGGCCCCGCGTTCTGCACTCGAGTCTTGCGGGTGGACATGCATATGTCAGAGTGGAGGGCAGGCAGCGATATCTACTGGTTTGGCTTGGGTATTTTTTTTTTTTGAGATGGAGTCTCAGCTATGAAGATATAATAAGCTTGTTGGATGGCCCCTCCCATCACCTGGCAGTGGACCTGCGTTTAAGGAAGGCCTCAGCTGGGGTGGGCGCTGGTGGAGTGCAAGCCTTCCACACAGTCTCAAACGAGAGGCTGAGGGCAAACATCCACACCTGAAAAGATGCTGCCTTACATGCTGACAAACCACCTGCCATGTGCCAGGCGCTGTGCTGGGGACACAGGGGACACAGGACGTAAGGGCACAGAACAAGCTTGGGTAATGCTGTAGTGGGGAGCCAGGTCAGGCCGAGGTCCTGCAGTGGCAGAATTCAGAGAAGGGCTGGCACAGGGAGGGAGAGAGAGGAAGGAGCTGACCAGGGTCGAAGAGGGACCCTGTGGTCAGAAAGGGCCGGCGTCCTGATGCAACCAGGGCCTGGTGCGTGTGACTGCTCTGTGTGCAGAGCTAGCTTCGGAGAGGGCAATCAAGTGGTTTCCAGAAGGCAGGCAGAAGGTGCGGAGGGCGGGTGAGGGGTGGTGGGGGGCAGGACAGGCGGCATAGGTGGGTGAGGGGTGGTGGGGGGCAGGATGGGGGGCAGGACAGGCGGCATAGGTGGGTGGGGGGCAGGATGGGGGGCAGGACAGGCGGCGTAGGTGGGTGAGGGGCGGTGGAGGGCAGGACGTGGGGACAGAAATGTTGCCGGTCTCCAGCATCAGGAGGGTGTGTGCGGGCTGTGCTCAGATGATGGATGATGGCGGGAAAGCTGAGCGGATATAGGAGCTGTGGCCTGGGTGAGGTGGTGCACGTGACCCCGGGTGGCGCTACAGCAGCAGCCAGGGAGCGTGTGCCTGGGCATTCTCAGTTTAGCTGCGCTTCCCAGTTTCTTTTTTCTTTTGTATCTCGAGTTACTAAATTCCACAGGCTTCAAGCAACCATAGAGAGAATAAAGAAGTTGGCGAAATATTTAAAATGTGGATTTCCTGTTAATTTTGAGGATATAGCAGTCTGGGCATCTCTCTACTCCAATTTTGCTTTTATACGGAAAACTATAGTTCTCCTAGAAATAGAAACCCCGTTGGAGCAGGGCGCGGTGCTGCACACCAGCCACTCACGAGGATCCCTTGAACCCGGGAGGCTGAGGCTGCAGGGAGCTGTGATTGTGCCACCGCACTCCAGCCTGGGCGACAGAGCAAGACCTCGTCTCAAAACCAAACCAAGCAACAACAAAAAAGAAACCTTGTTAGGATTAGACTTGAGTTGTTTTTTCCAGCAGCAAAAGGGGTCAGTGAATGGAAGTGGAACGGCGCAGAGGGGAGTGAGCAACCGGGCCAGGAAGTCTGTGTCTCACGGAGCTGACCTTTCAGCCCTGAGGGAGAGCCACTGCCAAGGAGCTTTCCTGTGAATTCTGGAGGCTGCAGCCCAGCGAGCCCGACACGGTCGCCAGCATGTTTCCCAAGCTCATTTCTCGATACTCAGTTTGTGAGTCCCGGGAACTATCTAATAGGGCAACACAACTGGTGGGTGCAGAGGCCCTGCAGGCATCGGCATAGCTGCAGGGTCTGACGGATGCAGGCGCGTGCAATTCTCTATGTTGGCTAC 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CTGCAGTTCCTGGCCCACCTCCTTCCCCAGAGACTCGGTACCTGCGACGTCATCATCTGGGGGCCTTGGGGGCCTGAAGCACCAGGAGGAGCAGGGGGGCCCTGTCCCTCAGCCGATCCCTTTCCACTCGGCTGGCGGGGTCCCGACAGGGTGTTCTCCTTTCACAGGCACCTCCCACAAGGGTCTACAGGTGCCTCCTCACCCTGCGATTCTAGCCCAATCTGGGGAGGAGCTGTGGCCAGCAGAGCCCCCCCAAGGCTCCCCGGGGCCCCAGGCTGCAGGAGGCCTTGGTGAGGGTCCCAGCACTGCGGGCAGCCAAGAGCTCTGGCAGTGTGCGGTCCCAGACACCCAAGAGGCCTCCCCACAGGCGGGTGGCACGCCCACCACCCGGATTCCTACGGTCTTCCACCTCCGACCACAGCCCTTGTCTGCCGTCCAGCAAGGAGCAGGCCCTGCTGGTGTTCCCGGGTTCCCCGGTTGTGCGCCCCACCCCAGGCCCCTTTCCCATGGCTGCCTGTCCCGCGGCTCAGGGCAGCCCTCCATGTACAGTGCTGCCTGCACAGAGCCTGTGGCATGCAGGCCCCAAGGCCGTGGGGAGAGTCCGGGGTCACTGCAGACCCGAGCCCCCTTTCTTCCATGGAGTCAGGCCTGGCGGGGCTGGTTCAGGCAGACTGAAGACAGGAGGAGGGAGAATACGCCCTCCACGCTGCCTCAGCTTTGCTTGTCACTCTCGTCTGGCAGACGTGGCTGAGAAAGACCCGGACGAGGACTGCAGGACGCTGGCACTGAGGGCCCTGCTGCTTCTGCAGAGACTCAAGAACAGGCTCCTCCCACCCGCGTCTCCCTAGTCCCTGGAGGCCTCCCCAGGACCACCCTCGCCGACAGCAAGGCAGGCGGCTGAGCAGCGGCCTGGAGCAGCAGAGCCAGGCTTTGTAGCGAGGCCAGGTCTTCGGCCGCATCCGGTACGGAGAGTGCAGATGCAGGAAGGCCCGGCCTGCCGCTATTTATAGTGCAGCCAGTCCGCTAAAAATACACTGGGCCTGGGCACTGCCCGCCGGGACATGGCAGCCTGGACGTGGGGCTGGGGCTGTGGGCGCTGCTGGCGGGGTTGACTCTTCCAGTGAGGGCAGAACCAGGCTGGCAGGAGGGGAGGACGGTGTACCTGCTGCTCAGAGCCCCCAAGGCTCTCCTCTGAGAGCCACCAAGCAGGACAGAGCAGCTCTTGTCCCAGGTCCCTCGGGCTGAGCGCCGTGTCACCAGGAGAATAGTGCTCACAGCCCAGGCAGGGTGTGTGGCTCCTGGATGGGCTCGTGGGGCGGGATGGGACAGGGCACGGGCTCTCAGAAAATAAACTGCTTTATTGGAATTACAGGAGTGTTGGTGGCCGGTGGGCAGAGCCTAGCAGGGGGTGCAGCCGCCAAGGCCCGGGTGTCCCAGCTGTTGCTCAGGAGCCGTGGGCCCTGCAGGAGTATGGGGAGGATATGATGTGTGGGGAGCAGGGGGGCAGGTGCCCCAGCCCTCCAGCTGCAGCTTCCTGAGGTTCTAGAAGTTTCTCAGGCTTTACAATGTGTAGTTGGGAGAATACGATGGAAGGGTGAACCCGACTCCCTTCAAAGGAATGAATCCAAAAATCTAGTGGAGCTGCCGGGCACCCAGAGGCAGGTGGGACAGAGCAAGGTGCAGACGGGTCACACCCTCCGCCGGCCCGGGCCGCTGCGTTCTCGCCCAGCTCTGTCGCGTATTCCAACACAGACATGTTTTTTCCCAGCAAAAATGCTGGCTTTGCCACAGCTGACAAAAAAATTCCAGAAGATGCCTTTCTGCAGCAGCACGCTGGTCCTGGGGCCCAGGCCCCTCAGGGGTCGTCATCTGCCTCTTCCACCACCTCCTCGTCCAGCTCCCTGGCGTCCTCCATGCTGTTGTGGCGGACCTGCTCGGGGACGGTGCGTGGCAGTGGGAGACCCAGCCCCCGGTGCACGGCGTCCACGGCCTGCGGGCTCACGTAGTAGGACATGTTGGCCAAGGGAAGCCGCCGCCGCATCTCCTCCGGGAATCTGTAGGCCTGGGGCAGAGGAGCAGACATTACTCAGCTTTCCTGAACAACCAGGCACGACCCTCTGCCTGCAGGCCAGGCACGTGCTGCTGCCCCTGGAGGCGGGTGGGGGTGCCTCCGCGCTGGAGGACACGGGGTGCACTGAGGCTTCCCATTGGTGATGGGGGAATGTGGTGATGAGGGGATGCGGTGCCCGCGGACCGCACACATGCCATGTGTGGACACTCAACAGGAAGCTTCGGTCAGCATTTCAGCTGGAAATGCAGAGCCAGGGCCCTGGAAAGTCCCTCAGCAGCTGTGCACAGGCCTGCTCACCGTGCGTGTGCGGGCAGAGCCTCCTGGGGAGGCAGAGGCCCCGCGTTCTGCACTCGAGTCTTGCGGGTGGACATGCATATGTCAGAGTGGAGGGCAGGCAGCGATATCTACTGGTTTGGCTTGGGTATTTTTTTTTTTTGAGATGGAGTCTCAGCTATGAAGATATAATAAGCTTGTTGGATGGCCCCTCCCATCACCTGGCAGTGGACCTGCGTTTAAGGAAGGCCTCAGCTGGGGTGGGCGCTGGTGGAGTGCAAGCCTTCCACACAGTCTCAAACGAGAGGCTGAGGGCAAACATCCACACCTGAAAAGATGCTGCCTTACATGCTGACAAACCACCTGCCATGTGCCAGGCGCTGTGCTGGGGACACAGGGGACACAGGACGTAAGGGCACAGAACAAGCTTGGGTAATGCTGTAGTGGGGAGCCAGGTCAGGCCGAGGTCCTGCAGTGGCAGAATTCAGAGAAGGGCTGGCACAGGGAGGGAGAGAGAGGAAGGAGCTGACCAGGGTCGAAGAGGGACCCTGTGGTCAGAAAGGGCCGGCGTCCTGATGCAACCAGGGCCTGGTGCGTGTGACTGCTCTGTGTGCAGAGCTAGCTTCGGAGAGGGCAATCAAGTGGTTTCCAGAAGGCAGGCAGAAGGTGCGGAGGGCGGGTGAGGGGTGGTGGGGGGCAGGACAGGCGGCATAGGTGGGTGAGGGGTGGTGGGGGGCAGGATGGGGGGCAGGACAGGCGGCATAGGTGGGTGGGGGGCAGGATGGGGGGCAGGACAGGCGGCGTAGGTGGGTGAGGGGCGGTGGAGGGCAGGACGTGGGGACAGAAATGTTGCCGGTCTCCAGCATCAGGAGGGTGTGTGCGGGCTGTGCTCAGATGATGGATGATGGCGGGAAAGCTGAGCGGATATAGGAGCTGTGGCCTGGGTGAGGTGGTGCACGTGACCCCGGGTGGCGCTACAGCAGCAGCCAGGGAGCGTGTGCCTGGGCATTCTCAGTTTAGCTGCGCTTCCCAGTTTCTTTTTTCTTTTGTATCTCGAGTTACTAAATTCCACAGGCTTCAAGCAACCATAGAGAGAATAAAGAAGTTGGCGAAATATTTAAAATGTGGATTTCCTGTTAATTTTGAGGATATAGCAGTCTGGGCATCTCTCTACTCCAATTTTGCTTTTATACGGAAAACTATAGTTCTCCTAGAAATAGAAACCCCGTTGGAGCAGGGCGCGGTGCTGCACACCAGCCACTCACGAGGATCCCTTGAACCCGGGAGGCTGAGGCTGCAGGGAGCTGTGATTGTGCCACCGCACTCCAGCCTGGGCGACAGAGCAAGACCTCGTCTCAAAACCAAACCAAGCAACAACAAAAAAGAAACCTTGTTAGGATTAGACTTGAGTTGTTTTTTCCAGCAGCAAAAGGGGTCAGTGAATGGAAGTGGAACGGCGCAGAGGGGAGTGAGCAACCGGGCCAGGAAGTCTGTGTCTCACGGAGCTGACCTTTCAGCCCTGAGGGAGAGCCACTGCCAAGGAGCTTTCCTGTGAATTCTGGAGGCTGCAGCCCAGCGAGCCCGACACGGTCGCCAGCATGTTTCCCAAGCTCATTTCTCGATACTCAGTTTGTGAGTCCCGGGAACTATCTAATAGGGCAACACAACTGGTGGGTGCAGAGGCCCTGCAGGCATCGGCATAGCTGCAGGGTCTGACGGATGCAGGCGCGTGCAATTCTCTATGTTGGCTAC 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Task1_train_22042 | Gene IFT140 (intraflagellar transport 140) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Saldino-Mainzer syndrome | CTGCAGTTCCTGGCCCACCTCCTTCCCCAGAGACTCGGTACCTGCGACGTCATCATCTGGGGGCCTTGGGGGCCTGAAGCACCAGGAGGAGCAGGGGGGCCCTGTCCCTCAGCCGATCCCTTTCCACTCGGCTGGCGGGGTCCCGACAGGGTGTTCTCCTTTCACAGGCACCTCCCACAAGGGTCTACAGGTGCCTCCTCACCCTGCGATTCTAGCCCAATCTGGGGAGGAGCTGTGGCCAGCAGAGCCCCCCCAAGGCTCCCCGGGGCCCCAGGCTGCAGGAGGCCTTGGTGAGGGTCCCAGCACTGCGGGCAGCCAAGAGCTCTGGCAGTGTGCGGTCCCAGACACCCAAGAGGCCTCCCCACAGGCGGGTGGCACGCCCACCACCCGGATTCCTACGGTCTTCCACCTCCGACCACAGCCCTTGTCTGCCGTCCAGCAAGGAGCAGGCCCTGCTGGTGTTCCCGGGTTCCCCGGTTGTGCGCCCCACCCCAGGCCCCTTTCCCATGGCTGCCTGTCCCGCGGCTCAGGGCAGCCCTCCATGTACAGTGCTGCCTGCACAGAGCCTGTGGCATGCAGGCCCCAAGGCCGTGGGGAGAGTCCGGGGTCACTGCAGACCCGAGCCCCCTTTCTTCCATGGAGTCAGGCCTGGCGGGGCTGGTTCAGGCAGACTGAAGACAGGAGGAGGGAGAATACGCCCTCCACGCTGCCTCAGCTTTGCTTGTCACTCTCGTCTGGCAGACGTGGCTGAGAAAGACCCGGACGAGGACTGCAGGACGCTGGCACTGAGGGCCCTGCTGCTTCTGCAGAGACTCAAGAACAGGCTCCTCCCACCCGCGTCTCCCTAGTCCCTGGAGGCCTCCCCAGGACCACCCTCGCCGACAGCAAGGCAGGCGGCTGAGCAGCGGCCTGGAGCAGCAGAGCCAGGCTTTGTAGCGAGGCCAGGTCTTCGGCCGCATCCGGTACGGAGAGTGCAGATGCAGGAAGGCCCGGCCTGCCGCTATTTATAGTGCAGCCAGTCCGCTAAAAATACACTGGGCCTGGGCACTGCCCGCCGGGACATGGCAGCCTGGACGTGGGGCTGGGGCTGTGGGCGCTGCTGGCGGGGTTGACTCTTCCAGTGAGGGCAGAACCAGGCTGGCAGGAGGGGAGGACGGTGTACCTGCTGCTCAGAGCCCCCAAGGCTCTCCTCTGAGAGCCACCAAGCAGGACAGAGCAGCTCTTGTCCCAGGTCCCTCGGGCTGAGCGCCGTGTCACCAGGAGAATAGTGCTCACAGCCCAGGCAGGGTGTGTGGCTCCTGGATGGGCTCGTGGGGCGGGATGGGACAGGGCACGGGCTCTCAGAAAATAAACTGCTTTATTGGAATTACAGGAGTGTTGGTGGCCGGTGGGCAGAGCCTAGCAGGGGGTGCAGCCGCCAAGGCCCGGGTGTCCCAGCTGTTGCTCAGGAGCCGTGGGCCCTGCAGGAGTATGGGGAGGATATGATGTGTGGGGAGCAGGGGGGCAGGTGCCCCAGCCCTCCAGCTGCAGCTTCCTGAGGTTCTAGAAGTTTCTCAGGCTTTACAATGTGTAGTTGGGAGAATACGATGGAAGGGTGAACCCGACTCCCTTCAAAGGAATGAATCCAAAAATCTAGTGGAGCTGCCGGGCACCCAGAGGCAGGTGGGACAGAGCAAGGTGCAGACGGGTCACACCCTCCGCCGGCCCGGGCCGCTGCGTTCTCGCCCAGCTCTGTCGCGTATTCCAACACAGACATGTTTTTTCCCAGCAAAAATGCTGGCTTTGCCACAGCTGACAAAAAAATTCCAGAAGATGCCTTTCTGCAGCAGCACGCTGGTCCTGGGGCCCAGGCCCCTCAGGGGTCGTCATCTGCCTCTTCCACCACCTCCTCGTCCAGCTCCCTGGCGTCCTCCATGCTGTTGTGGCGGACCTGCTCGGGGACGGTGCGTGGCAGTGGGAGACCCAGCCCCCGGTGCACGGCGTCCACGGCCTGCGGGCTCACGTAGTAGGACATGTTGGCCAAGGGAAGCCGCCGCCGCATCTCCTCCAGGAATCTGTAGGCCTGGGGCAGAGGAGCAGACATTACTCAGCTTTCCTGAACAACCAGGCACGACCCTCTGCCTGCAGGCCAGGCACGTGCTGCTGCCCCTGGAGGCGGGTGGGGGTGCCTCCGCGCTGGAGGACACGGGGTGCACTGAGGCTTCCCATTGGTGATGGGGGAATGTGGTGATGAGGGGATGCGGTGCCCGCGGACCGCACACATGCCATGTGTGGACACTCAACAGGAAGCTTCGGTCAGCATTTCAGCTGGAAATGCAGAGCCAGGGCCCTGGAAAGTCCCTCAGCAGCTGTGCACAGGCCTGCTCACCGTGCGTGTGCGGGCAGAGCCTCCTGGGGAGGCAGAGGCCCCGCGTTCTGCACTCGAGTCTTGCGGGTGGACATGCATATGTCAGAGTGGAGGGCAGGCAGCGATATCTACTGGTTTGGCTTGGGTATTTTTTTTTTTTGAGATGGAGTCTCAGCTATGAAGATATAATAAGCTTGTTGGATGGCCCCTCCCATCACCTGGCAGTGGACCTGCGTTTAAGGAAGGCCTCAGCTGGGGTGGGCGCTGGTGGAGTGCAAGCCTTCCACACAGTCTCAAACGAGAGGCTGAGGGCAAACATCCACACCTGAAAAGATGCTGCCTTACATGCTGACAAACCACCTGCCATGTGCCAGGCGCTGTGCTGGGGACACAGGGGACACAGGACGTAAGGGCACAGAACAAGCTTGGGTAATGCTGTAGTGGGGAGCCAGGTCAGGCCGAGGTCCTGCAGTGGCAGAATTCAGAGAAGGGCTGGCACAGGGAGGGAGAGAGAGGAAGGAGCTGACCAGGGTCGAAGAGGGACCCTGTGGTCAGAAAGGGCCGGCGTCCTGATGCAACCAGGGCCTGGTGCGTGTGACTGCTCTGTGTGCAGAGCTAGCTTCGGAGAGGGCAATCAAGTGGTTTCCAGAAGGCAGGCAGAAGGTGCGGAGGGCGGGTGAGGGGTGGTGGGGGGCAGGACAGGCGGCATAGGTGGGTGAGGGGTGGTGGGGGGCAGGATGGGGGGCAGGACAGGCGGCATAGGTGGGTGGGGGGCAGGATGGGGGGCAGGACAGGCGGCGTAGGTGGGTGAGGGGCGGTGGAGGGCAGGACGTGGGGACAGAAATGTTGCCGGTCTCCAGCATCAGGAGGGTGTGTGCGGGCTGTGCTCAGATGATGGATGATGGCGGGAAAGCTGAGCGGATATAGGAGCTGTGGCCTGGGTGAGGTGGTGCACGTGACCCCGGGTGGCGCTACAGCAGCAGCCAGGGAGCGTGTGCCTGGGCATTCTCAGTTTAGCTGCGCTTCCCAGTTTCTTTTTTCTTTTGTATCTCGAGTTACTAAATTCCACAGGCTTCAAGCAACCATAGAGAGAATAAAGAAGTTGGCGAAATATTTAAAATGTGGATTTCCTGTTAATTTTGAGGATATAGCAGTCTGGGCATCTCTCTACTCCAATTTTGCTTTTATACGGAAAACTATAGTTCTCCTAGAAATAGAAACCCCGTTGGAGCAGGGCGCGGTGCTGCACACCAGCCACTCACGAGGATCCCTTGAACCCGGGAGGCTGAGGCTGCAGGGAGCTGTGATTGTGCCACCGCACTCCAGCCTGGGCGACAGAGCAAGACCTCGTCTCAAAACCAAACCAAGCAACAACAAAAAAGAAACCTTGTTAGGATTAGACTTGAGTTGTTTTTTCCAGCAGCAAAAGGGGTCAGTGAATGGAAGTGGAACGGCGCAGAGGGGAGTGAGCAACCGGGCCAGGAAGTCTGTGTCTCACGGAGCTGACCTTTCAGCCCTGAGGGAGAGCCACTGCCAAGGAGCTTTCCTGTGAATTCTGGAGGCTGCAGCCCAGCGAGCCCGACACGGTCGCCAGCATGTTTCCCAAGCTCATTTCTCGATACTCAGTTTGTGAGTCCCGGGAACTATCTAATAGGGCAACACAACTGGTGGGTGCAGAGGCCCTGCAGGCATCGGCATAGCTGCAGGGTCTGACGGATGCAGGCGCGTGCAATTCTCTATGTTGGCTAC | CTGCAGTTCCTGGCCCACCTCCTTCCCCAGAGACTCGGTACCTGCGACGTCATCATCTGGGGGCCTTGGGGGCCTGAAGCACCAGGAGGAGCAGGGGGGCCCTGTCCCTCAGCCGATCCCTTTCCACTCGGCTGGCGGGGTCCCGACAGGGTGTTCTCCTTTCACAGGCACCTCCCACAAGGGTCTACAGGTGCCTCCTCACCCTGCGATTCTAGCCCAATCTGGGGAGGAGCTGTGGCCAGCAGAGCCCCCCCAAGGCTCCCCGGGGCCCCAGGCTGCAGGAGGCCTTGGTGAGGGTCCCAGCACTGCGGGCAGCCAAGAGCTCTGGCAGTGTGCGGTCCCAGACACCCAAGAGGCCTCCCCACAGGCGGGTGGCACGCCCACCACCCGGATTCCTACGGTCTTCCACCTCCGACCACAGCCCTTGTCTGCCGTCCAGCAAGGAGCAGGCCCTGCTGGTGTTCCCGGGTTCCCCGGTTGTGCGCCCCACCCCAGGCCCCTTTCCCATGGCTGCCTGTCCCGCGGCTCAGGGCAGCCCTCCATGTACAGTGCTGCCTGCACAGAGCCTGTGGCATGCAGGCCCCAAGGCCGTGGGGAGAGTCCGGGGTCACTGCAGACCCGAGCCCCCTTTCTTCCATGGAGTCAGGCCTGGCGGGGCTGGTTCAGGCAGACTGAAGACAGGAGGAGGGAGAATACGCCCTCCACGCTGCCTCAGCTTTGCTTGTCACTCTCGTCTGGCAGACGTGGCTGAGAAAGACCCGGACGAGGACTGCAGGACGCTGGCACTGAGGGCCCTGCTGCTTCTGCAGAGACTCAAGAACAGGCTCCTCCCACCCGCGTCTCCCTAGTCCCTGGAGGCCTCCCCAGGACCACCCTCGCCGACAGCAAGGCAGGCGGCTGAGCAGCGGCCTGGAGCAGCAGAGCCAGGCTTTGTAGCGAGGCCAGGTCTTCGGCCGCATCCGGTACGGAGAGTGCAGATGCAGGAAGGCCCGGCCTGCCGCTATTTATAGTGCAGCCAGTCCGCTAAAAATACACTGGGCCTGGGCACTGCCCGCCGGGACATGGCAGCCTGGACGTGGGGCTGGGGCTGTGGGCGCTGCTGGCGGGGTTGACTCTTCCAGTGAGGGCAGAACCAGGCTGGCAGGAGGGGAGGACGGTGTACCTGCTGCTCAGAGCCCCCAAGGCTCTCCTCTGAGAGCCACCAAGCAGGACAGAGCAGCTCTTGTCCCAGGTCCCTCGGGCTGAGCGCCGTGTCACCAGGAGAATAGTGCTCACAGCCCAGGCAGGGTGTGTGGCTCCTGGATGGGCTCGTGGGGCGGGATGGGACAGGGCACGGGCTCTCAGAAAATAAACTGCTTTATTGGAATTACAGGAGTGTTGGTGGCCGGTGGGCAGAGCCTAGCAGGGGGTGCAGCCGCCAAGGCCCGGGTGTCCCAGCTGTTGCTCAGGAGCCGTGGGCCCTGCAGGAGTATGGGGAGGATATGATGTGTGGGGAGCAGGGGGGCAGGTGCCCCAGCCCTCCAGCTGCAGCTTCCTGAGGTTCTAGAAGTTTCTCAGGCTTTACAATGTGTAGTTGGGAGAATACGATGGAAGGGTGAACCCGACTCCCTTCAAAGGAATGAATCCAAAAATCTAGTGGAGCTGCCGGGCACCCAGAGGCAGGTGGGACAGAGCAAGGTGCAGACGGGTCACACCCTCCGCCGGCCCGGGCCGCTGCGTTCTCGCCCAGCTCTGTCGCGTATTCCAACACAGACATGTTTTTTCCCAGCAAAAATGCTGGCTTTGCCACAGCTGACAAAAAAATTCCAGAAGATGCCTTTCTGCAGCAGCACGCTGGTCCTGGGGCCCAGGCCCCTCAGGGGTCGTCATCTGCCTCTTCCACCACCTCCTCGTCCAGCTCCCTGGCGTCCTCCATGCTGTTGTGGCGGACCTGCTCGGGGACGGTGCGTGGCAGTGGGAGACCCAGCCCCCGGTGCACGGCGTCCACGGCCTGCGGGCTCACGTAGTAGGACATGTTGGCCAAGGGAAGCCGCCGCCGCATCTCCTCCGGGAATCTGTAGGCCTGGGGCAGAGGAGCAGACATTACTCAGCTTTCCTGAACAACCAGGCACGACCCTCTGCCTGCAGGCCAGGCACGTGCTGCTGCCCCTGGAGGCGGGTGGGGGTGCCTCCGCGCTGGAGGACACGGGGTGCACTGAGGCTTCCCATTGGTGATGGGGGAATGTGGTGATGAGGGGATGCGGTGCCCGCGGACCGCACACATGCCATGTGTGGACACTCAACAGGAAGCTTCGGTCAGCATTTCAGCTGGAAATGCAGAGCCAGGGCCCTGGAAAGTCCCTCAGCAGCTGTGCACAGGCCTGCTCACCGTGCGTGTGCGGGCAGAGCCTCCTGGGGAGGCAGAGGCCCCGCGTTCTGCACTCGAGTCTTGCGGGTGGACATGCATATGTCAGAGTGGAGGGCAGGCAGCGATATCTACTGGTTTGGCTTGGGTATTTTTTTTTTTTGAGATGGAGTCTCAGCTATGAAGATATAATAAGCTTGTTGGATGGCCCCTCCCATCACCTGGCAGTGGACCTGCGTTTAAGGAAGGCCTCAGCTGGGGTGGGCGCTGGTGGAGTGCAAGCCTTCCACACAGTCTCAAACGAGAGGCTGAGGGCAAACATCCACACCTGAAAAGATGCTGCCTTACATGCTGACAAACCACCTGCCATGTGCCAGGCGCTGTGCTGGGGACACAGGGGACACAGGACGTAAGGGCACAGAACAAGCTTGGGTAATGCTGTAGTGGGGAGCCAGGTCAGGCCGAGGTCCTGCAGTGGCAGAATTCAGAGAAGGGCTGGCACAGGGAGGGAGAGAGAGGAAGGAGCTGACCAGGGTCGAAGAGGGACCCTGTGGTCAGAAAGGGCCGGCGTCCTGATGCAACCAGGGCCTGGTGCGTGTGACTGCTCTGTGTGCAGAGCTAGCTTCGGAGAGGGCAATCAAGTGGTTTCCAGAAGGCAGGCAGAAGGTGCGGAGGGCGGGTGAGGGGTGGTGGGGGGCAGGACAGGCGGCATAGGTGGGTGAGGGGTGGTGGGGGGCAGGATGGGGGGCAGGACAGGCGGCATAGGTGGGTGGGGGGCAGGATGGGGGGCAGGACAGGCGGCGTAGGTGGGTGAGGGGCGGTGGAGGGCAGGACGTGGGGACAGAAATGTTGCCGGTCTCCAGCATCAGGAGGGTGTGTGCGGGCTGTGCTCAGATGATGGATGATGGCGGGAAAGCTGAGCGGATATAGGAGCTGTGGCCTGGGTGAGGTGGTGCACGTGACCCCGGGTGGCGCTACAGCAGCAGCCAGGGAGCGTGTGCCTGGGCATTCTCAGTTTAGCTGCGCTTCCCAGTTTCTTTTTTCTTTTGTATCTCGAGTTACTAAATTCCACAGGCTTCAAGCAACCATAGAGAGAATAAAGAAGTTGGCGAAATATTTAAAATGTGGATTTCCTGTTAATTTTGAGGATATAGCAGTCTGGGCATCTCTCTACTCCAATTTTGCTTTTATACGGAAAACTATAGTTCTCCTAGAAATAGAAACCCCGTTGGAGCAGGGCGCGGTGCTGCACACCAGCCACTCACGAGGATCCCTTGAACCCGGGAGGCTGAGGCTGCAGGGAGCTGTGATTGTGCCACCGCACTCCAGCCTGGGCGACAGAGCAAGACCTCGTCTCAAAACCAAACCAAGCAACAACAAAAAAGAAACCTTGTTAGGATTAGACTTGAGTTGTTTTTTCCAGCAGCAAAAGGGGTCAGTGAATGGAAGTGGAACGGCGCAGAGGGGAGTGAGCAACCGGGCCAGGAAGTCTGTGTCTCACGGAGCTGACCTTTCAGCCCTGAGGGAGAGCCACTGCCAAGGAGCTTTCCTGTGAATTCTGGAGGCTGCAGCCCAGCGAGCCCGACACGGTCGCCAGCATGTTTCCCAAGCTCATTTCTCGATACTCAGTTTGTGAGTCCCGGGAACTATCTAATAGGGCAACACAACTGGTGGGTGCAGAGGCCCTGCAGGCATCGGCATAGCTGCAGGGTCTGACGGATGCAGGCGCGTGCAATTCTCTATGTTGGCTAC |
Task1_train_22043 | Given this variant in gene IFT140 (intraflagellar transport 140) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Saldino-Mainzer syndrome | AATTATAACACTATACTGTGTTTATAATACATGTACATGTTACACATACGACAAATACAGGTGGGGACACGGGTGGGAAATGGACCTACCTGCTAACTCTAGTGTGGTAAGTATGTTTATGGTAATCTCCAGGGCAAACACTAGAAATACAATGCAAAGAGGAGTAGAGATAAAAAGCTGATAGCTAAAATGAAATTATAAAAAATAGTCCACTAAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTATCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACCGCACTCCAGCCTGGGCGACAGAGCGACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAATCAACTAAAAAGAAGGCAGGAAAAAAGGTTTAAAGTAACAATAATAAAAACTGGTAGAAAAAGTTGACTGGTAGAAAACTGACATGAAAAAGATGGATGGGATTACCATCAGAGTGAGACACTGCAGAAGGAAAGCTGGTAAACTTGAAGCAACAGAAATGGCAAATCCCTAAAATGAAAAACAGAAAAAGTCCTTGGGGGAGAAAAGAAGAGCATCAGTTGAGCTAGGGGATGGTACTGTATATACAAGTCATTGGAATTTCAGAAGCAGAGGAAAAAAGGAATAGAAGGGAACTTCGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTGGAGGCGGGTGGATCACTTGAGGTCACGAGTTCAAGACCAGCCTGGCCAAATGGTGAAACCCCATCTCTACAGGCATGCTGATGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAAGTACAATAATAAGAAAACCCAATAAAATGATGAGAAGAGACTTGAAGCCTTCACAGAAGGTGTGTAAATGGATAATAAGCACATGAGAAGGAGCTGCACATCACTACTCATCCAGAAAATGTGAATTTAAACCTCAGCAAGGTACTGTTCACCCCCTAGGATGGCTACAGTTCGAAAGAATGATCAAATGTTGGTGGGGATGAGGAAAACGCTAGAACACTGCGGCTGAATAAGTGATTAGCTGGTCACTTTAAAGTGACTACACGCTGTCTCTAAAATTAAAAAATAAGCGACTAAAAAATGGAACACCATTTTCTTTTTTTGTGAAAATCCCTGAAAAAGAAATCGTGGTTATTCAGACTCGGGTACATGCAGACATTTCTTCACAAATAAAGTAAGTCTGTCGCTTTCCTGCGACACTGCTAGTAACAGCCAGTAACAGCGTGAGACTGTTACTTTTTGCTACCGACAGATTTTTTTTTTCTTTTGAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCAGATCTCACTGCAGCCTCAACCTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCCCAAGCAGCTGGGACCCCAGGTGTGAGCCACCATGCCTGGCTAATTTTTCCCCTTTTTGTAGAGATGGGGTTTCACCATGTCGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGTCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCGCCACACACAGCCTCAGTTTGAGCCGTTAAGCCTTCGTTTCAGGAGCCTTGTGTGGCGGGATGCTGCTAGTGAGCAGCACTCAGGCCTCACCGTCTGGTATTCCTCCTTCCGCACGTAGTGCTCCACCAGGAAGCCATAGACGTCCCCGATGCGGATGGTGCTGTCCAGGTCTGGTTCCTCCAGGAGCAGCTCACACTGCTTGATGGACTCCTTGGGGTCCTCTGTGTACGTCCTGCCGAGAGCAGAGATGAGGCCTGGGCCCCGAAGCCCTGAACACCTACTGCTATCAGAGGTCAGAGGAGACTCTTGGCCTGTAAGAGGAGCTCTCCGGAATGGCAGGAGGAAACTTTCTATGAAGTTAAATTCATTAATTCCTTAATTTGTTCATTCATAAATTAACTCATCCATGTAACATTCTTACTGATCACTTGAATGCTGGGTCCTATGCTTGGACTGAAGACCAAAGACTTCCGACCCCTAGTTCCTGCTCTATGGAACAGTCCAGAGGGGGCTAGAAACCTCTGCACAAAGCGTGACCCAGAGGGGATGTGGTGCATGTGGACAGGGTACACGGAGAGGCGCACGGCACCCCTTGCCCAAGGCCGCTGGGAAGAACCCTCCAAGCAGAGAGGCTGCCCGCACACAGGCTGCGTGTGTGACCTGGCGTGAGGGTCTGTGGCAGAGCAGGGTGTGTGGCCTGTGAGCTGGGGTGACACCAGGGAGGTGAGCCTGCTGGAACACAACATGGTCCAGGGCAGGTGACTGGAGCCGTGTGGAGCTCAGGCTCCCATGTCAGGAGGGTCCAGGGCCCATCTGGCCACCCACTGACTCGGCCATTCCAGACAGGCGCCTGGCCTGCCCTCTGACCCCTGGCCCATAGAAGGTTGCCCACCCTGGCCCTCACACGTCGTCTCCCCTCCACCCACGTCCTGTGCTATCCCTGATGACCAGCTGCTATCGATTCTCCTCCGCTCCTGCCCTGTGGCCTCAGCTCAGCAGACATCTGTGAGACGCTGATACCCCAGAATCGACACGTGCAGGTGGACCGTGCCCTTCCAAGGGGCACCGCTTTGTACGACCTTGTTCAAAGGACTTCTGGAACTCTTGTTTTGGAAAAGGTTCTCCGATAAGGAAAACAGCCCTGCCAGCTGAGACAGAAGCTGGGCCCTGAAGCGCACAGGCGAGTGCCCACCGTGGTGGCCACACAGCAGCTCTCTGAAAAGCTGAGTCACCTGCCCATAATAAAGATGGGGAGGTGTTCAAATAAACTTAGCATCTTGGCCTCTCCTGAAAACCGAGACCATCGGCTGGCTGCCTGGGTCTCCTCTCCACAAGCTTGGAGCTGGTGGCAGTTGACCTGTGGAGAGGCATGAGCCCTCTGGTCACCATGGTCCCCCAACCCCAGGTCACACAGCGGCACTCACTCAGGACTCCCCTGCCCGGCCCCTGCACACCCTCAGCAGGTCTGTGGCTCCCCAGACACACCCTCTCCTGCTCCACATCTGCCTCCTCCTCCCACTCCCCCACCAGGTTTCTCTCTCAGCGTCTCTGGTGTTTCCAGAACACCTTCCCAAGGCTGTGCCCGGGCTCTGAGGGCTCCCAGGAGGAGGTGGGGTGTGTCTTCAGCAGTAGTGCTGTCCCAAGTGAGCTCCCATCTGCTGTCCTGCCCTTTTGCTGGCTGGGGTTTCTCGTGGTCAGCCCCGGCCCTGTAGTCACATCTGCCCTGGCCTGTCCCCGCTGGCCCCGGGGGCACACCTGCGGGCCTGGATGAACCTCTTCACCAGTGCCATCCTGCTCTGCAGCTGCGCCAGCCTGGTCTCCTGGTCCAGGGGGCTCTTGGCCTTGGCCTTGGCCAGGCACTTGTAGGCCTCGGTCAGCGCCCCGTGGGCTTTGTCGTAGTTCTGGTATTCATCAATCTCCACCTGTACAGATGAAACCCGTCAAGACCTGCCGGGCTCCACAGCCCTCCCCGGGGCCCCGCTGGCATGCCAGGGAGGGCCTGCACCTGGGCACAAGCGTCATAAAAGCCAGCCAGGAGGTCCAGGGCCCGCCCCTTGGTGTAGAAGCCGATGATGTTCTTCATGATCTCCGGCTCCTTCCGCCAGTCCAGGGACTGCAGGTAGTTAGCAGCCATGATGTAGATTTCCTTCTGCCTGGACACGCTCGCGAAGAACGTGATTTTCTCCGTGTCTCCGGATTTGAGCAGCGCCCTCATGGCCTAGGCAGAGAGACAGCGGGGCTC | AATTATAACACTATACTGTGTTTATAATACATGTACATGTTACACATACGACAAATACAGGTGGGGACACGGGTGGGAAATGGACCTACCTGCTAACTCTAGTGTGGTAAGTATGTTTATGGTAATCTCCAGGGCAAACACTAGAAATACAATGCAAAGAGGAGTAGAGATAAAAAGCTGATAGCTAAAATGAAATTATAAAAAATAGTCCACTAAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTATCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACCGCACTCCAGCCTGGGCGACAGAGCGACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAATCAACTAAAAAGAAGGCAGGAAAAAAGGTTTAAAGTAACAATAATAAAAACTGGTAGAAAAAGTTGACTGGTAGAAAACTGACATGAAAAAGATGGATGGGATTACCATCAGAGTGAGACACTGCAGAAGGAAAGCTGGTAAACTTGAAGCAACAGAAATGGCAAATCCCTAAAATGAAAAACAGAAAAAGTCCTTGGGGGAGAAAAGAAGAGCATCAGTTGAGCTAGGGGATGGTACTGTATATACAAGTCATTGGAATTTCAGAAGCAGAGGAAAAAAGGAATAGAAGGGAACTTCGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTGGAGGCGGGTGGATCACTTGAGGTCACGAGTTCAAGACCAGCCTGGCCAAATGGTGAAACCCCATCTCTACAGGCATGCTGATGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAAGTACAATAATAAGAAAACCCAATAAAATGATGAGAAGAGACTTGAAGCCTTCACAGAAGGTGTGTAAATGGATAATAAGCACATGAGAAGGAGCTGCACATCACTACTCATCCAGAAAATGTGAATTTAAACCTCAGCAAGGTACTGTTCACCCCCTAGGATGGCTACAGTTCGAAAGAATGATCAAATGTTGGTGGGGATGAGGAAAACGCTAGAACACTGCGGCTGAATAAGTGATTAGCTGGTCACTTTAAAGTGACTACACGCTGTCTCTAAAATTAAAAAATAAGCGACTAAAAAATGGAACACCATTTTCTTTTTTTGTGAAAATCCCTGAAAAAGAAATCGTGGTTATTCAGACTCGGGTACATGCAGACATTTCTTCACAAATAAAGTAAGTCTGTCGCTTTCCTGCGACACTGCTAGTAACAGCCAGTAACAGCGTGAGACTGTTACTTTTTGCTACCGACAGATTTTTTTTTTCTTTTGAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCAGATCTCACTGCAGCCTCAACCTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCCCAAGCAGCTGGGACCCCAGGTGTGAGCCACCATGCCTGGCTAATTTTTCCCCTTTTTGTAGAGATGGGGTTTCACCATGTCGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGTCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCGCCACACACAGCCTCAGTTTGAGCCGTTAAGCCTTCGTTTCAGGAGCCTTGTGTGGCGGGATGCTGCTAGTGAGCAGCACTCAGGCCTCACCGTCTGGTATTCCTCCTTCCGCACGTAGTGCTCCACCAGGAAGCCATAGACGTCCCCGATGCGGATGGTGCTGTCCAGGTCTGGTTCCTCCAGGAGCAGCTCACGCTGCTTGATGGACTCCTTGGGGTCCTCTGTGTACGTCCTGCCGAGAGCAGAGATGAGGCCTGGGCCCCGAAGCCCTGAACACCTACTGCTATCAGAGGTCAGAGGAGACTCTTGGCCTGTAAGAGGAGCTCTCCGGAATGGCAGGAGGAAACTTTCTATGAAGTTAAATTCATTAATTCCTTAATTTGTTCATTCATAAATTAACTCATCCATGTAACATTCTTACTGATCACTTGAATGCTGGGTCCTATGCTTGGACTGAAGACCAAAGACTTCCGACCCCTAGTTCCTGCTCTATGGAACAGTCCAGAGGGGGCTAGAAACCTCTGCACAAAGCGTGACCCAGAGGGGATGTGGTGCATGTGGACAGGGTACACGGAGAGGCGCACGGCACCCCTTGCCCAAGGCCGCTGGGAAGAACCCTCCAAGCAGAGAGGCTGCCCGCACACAGGCTGCGTGTGTGACCTGGCGTGAGGGTCTGTGGCAGAGCAGGGTGTGTGGCCTGTGAGCTGGGGTGACACCAGGGAGGTGAGCCTGCTGGAACACAACATGGTCCAGGGCAGGTGACTGGAGCCGTGTGGAGCTCAGGCTCCCATGTCAGGAGGGTCCAGGGCCCATCTGGCCACCCACTGACTCGGCCATTCCAGACAGGCGCCTGGCCTGCCCTCTGACCCCTGGCCCATAGAAGGTTGCCCACCCTGGCCCTCACACGTCGTCTCCCCTCCACCCACGTCCTGTGCTATCCCTGATGACCAGCTGCTATCGATTCTCCTCCGCTCCTGCCCTGTGGCCTCAGCTCAGCAGACATCTGTGAGACGCTGATACCCCAGAATCGACACGTGCAGGTGGACCGTGCCCTTCCAAGGGGCACCGCTTTGTACGACCTTGTTCAAAGGACTTCTGGAACTCTTGTTTTGGAAAAGGTTCTCCGATAAGGAAAACAGCCCTGCCAGCTGAGACAGAAGCTGGGCCCTGAAGCGCACAGGCGAGTGCCCACCGTGGTGGCCACACAGCAGCTCTCTGAAAAGCTGAGTCACCTGCCCATAATAAAGATGGGGAGGTGTTCAAATAAACTTAGCATCTTGGCCTCTCCTGAAAACCGAGACCATCGGCTGGCTGCCTGGGTCTCCTCTCCACAAGCTTGGAGCTGGTGGCAGTTGACCTGTGGAGAGGCATGAGCCCTCTGGTCACCATGGTCCCCCAACCCCAGGTCACACAGCGGCACTCACTCAGGACTCCCCTGCCCGGCCCCTGCACACCCTCAGCAGGTCTGTGGCTCCCCAGACACACCCTCTCCTGCTCCACATCTGCCTCCTCCTCCCACTCCCCCACCAGGTTTCTCTCTCAGCGTCTCTGGTGTTTCCAGAACACCTTCCCAAGGCTGTGCCCGGGCTCTGAGGGCTCCCAGGAGGAGGTGGGGTGTGTCTTCAGCAGTAGTGCTGTCCCAAGTGAGCTCCCATCTGCTGTCCTGCCCTTTTGCTGGCTGGGGTTTCTCGTGGTCAGCCCCGGCCCTGTAGTCACATCTGCCCTGGCCTGTCCCCGCTGGCCCCGGGGGCACACCTGCGGGCCTGGATGAACCTCTTCACCAGTGCCATCCTGCTCTGCAGCTGCGCCAGCCTGGTCTCCTGGTCCAGGGGGCTCTTGGCCTTGGCCTTGGCCAGGCACTTGTAGGCCTCGGTCAGCGCCCCGTGGGCTTTGTCGTAGTTCTGGTATTCATCAATCTCCACCTGTACAGATGAAACCCGTCAAGACCTGCCGGGCTCCACAGCCCTCCCCGGGGCCCCGCTGGCATGCCAGGGAGGGCCTGCACCTGGGCACAAGCGTCATAAAAGCCAGCCAGGAGGTCCAGGGCCCGCCCCTTGGTGTAGAAGCCGATGATGTTCTTCATGATCTCCGGCTCCTTCCGCCAGTCCAGGGACTGCAGGTAGTTAGCAGCCATGATGTAGATTTCCTTCTGCCTGGACACGCTCGCGAAGAACGTGATTTTCTCCGTGTCTCCGGATTTGAGCAGCGCCCTCATGGCCTAGGCAGAGAGACAGCGGGGCTC 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Task1_train_22044 | This variant impacts the gene IFT140 (intraflagellar transport 140) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Retinal dystrophy | CACACAGCCTCAGTTTGAGCCGTTAAGCCTTCGTTTCAGGAGCCTTGTGTGGCGGGATGCTGCTAGTGAGCAGCACTCAGGCCTCACCGTCTGGTATTCCTCCTTCCGCACGTAGTGCTCCACCAGGAAGCCATAGACGTCCCCGATGCGGATGGTGCTGTCCAGGTCTGGTTCCTCCAGGAGCAGCTCACACTGCTTGATGGACTCCTTGGGGTCCTCTGTGTACGTCCTGCCGAGAGCAGAGATGAGGCCTGGGCCCCGAAGCCCTGAACACCTACTGCTATCAGAGGTCAGAGGAGACTCTTGGCCTGTAAGAGGAGCTCTCCGGAATGGCAGGAGGAAACTTTCTATGAAGTTAAATTCATTAATTCCTTAATTTGTTCATTCATAAATTAACTCATCCATGTAACATTCTTACTGATCACTTGAATGCTGGGTCCTATGCTTGGACTGAAGACCAAAGACTTCCGACCCCTAGTTCCTGCTCTATGGAACAGTCCAGAGGGGGCTAGAAACCTCTGCACAAAGCGTGACCCAGAGGGGATGTGGTGCATGTGGACAGGGTACACGGAGAGGCGCACGGCACCCCTTGCCCAAGGCCGCTGGGAAGAACCCTCCAAGCAGAGAGGCTGCCCGCACACAGGCTGCGTGTGTGACCTGGCGTGAGGGTCTGTGGCAGAGCAGGGTGTGTGGCCTGTGAGCTGGGGTGACACCAGGGAGGTGAGCCTGCTGGAACACAACATGGTCCAGGGCAGGTGACTGGAGCCGTGTGGAGCTCAGGCTCCCATGTCAGGAGGGTCCAGGGCCCATCTGGCCACCCACTGACTCGGCCATTCCAGACAGGCGCCTGGCCTGCCCTCTGACCCCTGGCCCATAGAAGGTTGCCCACCCTGGCCCTCACACGTCGTCTCCCCTCCACCCACGTCCTGTGCTATCCCTGATGACCAGCTGCTATCGATTCTCCTCCGCTCCTGCCCTGTGGCCTCAGCTCAGCAGACATCTGTGAGACGCTGATACCCCAGAATCGACACGTGCAGGTGGACCGTGCCCTTCCAAGGGGCACCGCTTTGTACGACCTTGTTCAAAGGACTTCTGGAACTCTTGTTTTGGAAAAGGTTCTCCGATAAGGAAAACAGCCCTGCCAGCTGAGACAGAAGCTGGGCCCTGAAGCGCACAGGCGAGTGCCCACCGTGGTGGCCACACAGCAGCTCTCTGAAAAGCTGAGTCACCTGCCCATAATAAAGATGGGGAGGTGTTCAAATAAACTTAGCATCTTGGCCTCTCCTGAAAACCGAGACCATCGGCTGGCTGCCTGGGTCTCCTCTCCACAAGCTTGGAGCTGGTGGCAGTTGACCTGTGGAGAGGCATGAGCCCTCTGGTCACCATGGTCCCCCAACCCCAGGTCACACAGCGGCACTCACTCAGGACTCCCCTGCCCGGCCCCTGCACACCCTCAGCAGGTCTGTGGCTCCCCAGACACACCCTCTCCTGCTCCACATCTGCCTCCTCCTCCCACTCCCCCACCAGGTTTCTCTCTCAGCGTCTCTGGTGTTTCCAGAACACCTTCCCAAGGCTGTGCCCGGGCTCTGAGGGCTCCCAGGAGGAGGTGGGGTGTGTCTTCAGCAGTAGTGCTGTCCCAAGTGAGCTCCCATCTGCTGTCCTGCCCTTTTGCTGGCTGGGGTTTCTCGTGGTCAGCCCCGGCCCTGTAGTCACATCTGCCCTGGCCTGTCCCCGCTGGCCCCGGGGGCACACCTGCGGGCCTGGATGAACCTCTTCACCAGTGCCATCCTGCTCTGCAGCTGCGCCAGCCTGGTCTCCTGGTCCAGGGGGCTCTTGGCCTTGGCCTTGGCCAGGCACTTGTAGGCCTCGGTCAGCGCCCCGTGGGCTTTGTCGTAGTTCTGGTATTCATCAATCTCCACCTGTACAGATGAAACCCGTCAAGACCTGCCGGGCTCCACAGCCCTCCCCGGGGCCCCGCTGGCATGCCAGGGAGGGCCTGCACCTGGGCACAAGCGTCATAAAAGCCAGCCAGGAGGTCCAGGGCCCGCCCCTTGGTGTAGAAGCCGATGATGTTCTTCATGATCTCCGGCTCCTTCCGCCAGTCCAGGGACTGCAGGTAGTTAGCAGCCATGATGTAGATTTCCTTCTGCCTGGACACGCTCGCGAAGAACGTGATTTTCTCCGTGTCTCCGGATTTGAGCAGCGCCCTCATGGCCTAGGCAGAGAGACAGCGGGGCTCAGGCAAGCAGGGGCTGGGCCGGGACAAGCACAAGGGACCCCGAGCAGGAGCTCTCACAAGAAGAGTGGCTCAGGGCTGCCCGGTAGAGAGAGATCTTAGTGGTTGTGCTCTTCCTGGCCAGAAAGGCTCAGCCCTAGCTTGGGGTCATCACGAAGGCAAATGGAGATGCGTGCAGGGGGCCCGCAGCCTAACTGCCTGTGAGGTAGCCGCGGGCTGGGGCCGGGAGAGGCTCACCTTCAGCTTGTTGCCGGCCTGCGTGTACTTCTTGGTGGCCAGGTGGTAGCTGCCCTGGCGCATGCAGCAGTCTGCTATCTGCTCCAGCAGCTCCCGCCGCGACTCCTCAGGCAGGTCCGAGGAGTCCTTGGCCACGGTCATCTTTTCCGCCATCTCCTCGGTGATGCTCATGTTCTGCCCCAGGCACAGCTGCAGGGCTTCCTGATACTGCAAAGGTGCAGAAATGGGACGGGGCTGCCGAGGGGGCCGGGAACTGAAGTGCGCCCCTCATCTGCCACCGCTTCAGAGGAAACCAGGCCCCTCGGCTCAGCGGCGGCTTCTGTCTAGCTGGGGTGGGTATGGAGGGGACAAGGATGTCTCCCCTGCCTCACCAACCTACAATCATTCACGTTACTTTCTCACGCTGTTAACATTCCAGAATGGAACGAAGGAAACAATAGTCTCAAGTGATATATGCTCAAGAGAATATTACGTTTGGGAGAAAAGGAAATTGGTAATTTTCTTCTATAATTCTGAATTTTTAAAGTTAAATTTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCAGTCACGGCAGCCTCCACCTCCCCAGGGTCAGGTGATCTTCCTACCTCAGTTTTTGTATTTTCAGTAGAGACGGGGTTTTGCAATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTGCAGGCACAAGCCACCGTGCCGGCCTGATTTTCCTAACATTTTAAGAAATATATATATTTTTTTCTGAGGTGGGGTTTTGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTACCAAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCGGCTAATTTTGTAATTTTTTTTAGTAGAGACAGGGTTTCTCCCTGTTGGTCAGGCTGGGCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCCTCATTTTAAGAAAAATTTTACATTCTTCACTTGAGAATATGTCTTAGGCCGGGCATGTTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGAGAGGATCACTTGGGCCTAGGAGTTTGAGACCAGCCTGGGCAACACAGTCAGACCCCCATCTCCACAAGAAAAAAAAACAGTAATAACCCACAAATATATATGAAGTAATAACACATTTATATTTAAAAAAAAAAAAAAAAAGAATATGGCTGAGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGCTGGATGCCATGGCTCATGCCTGTAATCTCAAGCACTTTGGGAGGCTGAGGAGGGTGGATCATGAGATCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAACACAGAAAATTAACACAGGTGTGGTGG | CACACAGCCTCAGTTTGAGCCGTTAAGCCTTCGTTTCAGGAGCCTTGTGTGGCGGGATGCTGCTAGTGAGCAGCACTCAGGCCTCACCGTCTGGTATTCCTCCTTCCGCACGTAGTGCTCCACCAGGAAGCCATAGACGTCCCCGATGCGGATGGTGCTGTCCAGGTCTGGTTCCTCCAGGAGCAGCTCACACTGCTTGATGGACTCCTTGGGGTCCTCTGTGTACGTCCTGCCGAGAGCAGAGATGAGGCCTGGGCCCCGAAGCCCTGAACACCTACTGCTATCAGAGGTCAGAGGAGACTCTTGGCCTGTAAGAGGAGCTCTCCGGAATGGCAGGAGGAAACTTTCTATGAAGTTAAATTCATTAATTCCTTAATTTGTTCATTCATAAATTAACTCATCCATGTAACATTCTTACTGATCACTTGAATGCTGGGTCCTATGCTTGGACTGAAGACCAAAGACTTCCGACCCCTAGTTCCTGCTCTATGGAACAGTCCAGAGGGGGCTAGAAACCTCTGCACAAAGCGTGACCCAGAGGGGATGTGGTGCATGTGGACAGGGTACACGGAGAGGCGCACGGCACCCCTTGCCCAAGGCCGCTGGGAAGAACCCTCCAAGCAGAGAGGCTGCCCGCACACAGGCTGCGTGTGTGACCTGGCGTGAGGGTCTGTGGCAGAGCAGGGTGTGTGGCCTGTGAGCTGGGGTGACACCAGGGAGGTGAGCCTGCTGGAACACAACATGGTCCAGGGCAGGTGACTGGAGCCGTGTGGAGCTCAGGCTCCCATGTCAGGAGGGTCCAGGGCCCATCTGGCCACCCACTGACTCGGCCATTCCAGACAGGCGCCTGGCCTGCCCTCTGACCCCTGGCCCATAGAAGGTTGCCCACCCTGGCCCTCACACGTCGTCTCCCCTCCACCCACGTCCTGTGCTATCCCTGATGACCAGCTGCTATCGATTCTCCTCCGCTCCTGCCCTGTGGCCTCAGCTCAGCAGACATCTGTGAGACGCTGATACCCCAGAATCGACACGTGCAGGTGGACCGTGCCCTTCCAAGGGGCACCGCTTTGTACGACCTTGTTCAAAGGACTTCTGGAACTCTTGTTTTGGAAAAGGTTCTCCGATAAGGAAAACAGCCCTGCCAGCTGAGACAGAAGCTGGGCCCTGAAGCGCACAGGCGAGTGCCCACCGTGGTGGCCACACAGCAGCTCTCTGAAAAGCTGAGTCACCTGCCCATAATAAAGATGGGGAGGTGTTCAAATAAACTTAGCATCTTGGCCTCTCCTGAAAACCGAGACCATCGGCTGGCTGCCTGGGTCTCCTCTCCACAAGCTTGGAGCTGGTGGCAGTTGACCTGTGGAGAGGCATGAGCCCTCTGGTCACCATGGTCCCCCAACCCCAGGTCACACAGCGGCACTCACTCAGGACTCCCCTGCCCGGCCCCTGCACACCCTCAGCAGGTCTGTGGCTCCCCAGACACACCCTCTCCTGCTCCACATCTGCCTCCTCCTCCCACTCCCCCACCAGGTTTCTCTCTCAGCGTCTCTGGTGTTTCCAGAACACCTTCCCAAGGCTGTGCCCGGGCTCTGAGGGCTCCCAGGAGGAGGTGGGGTGTGTCTTCAGCAGTAGTGCTGTCCCAAGTGAGCTCCCATCTGCTGTCCTGCCCTTTTGCTGGCTGGGGTTTCTCGTGGTCAGCCCCGGCCCTGTAGTCACATCTGCCCTGGCCTGTCCCCGCTGGCCCCGGGGGCACACCTGCGGGCCTGGATGAACCTCTTCACCAGTGCCATCCTGCTCTGCAGCTGCGCCAGCCTGGTCTCCTGGTCCAGGGGGCTCTTGGCCTTGGCCTTGGCCAGGCACTTGTAGGCCTCGGTCAGCGCCCCGTGGGCTTTGTCGTAGTTCTGGTATTCATCAATCTCCACCTGTACAGATGAAACCCGTCAAGACCTGCCGGGCTCCACAGCCCTCCCCGGGGCCCCGCTGGCATGCCAGGGAGGGCCTGCACCTGGGCACAAGCGTCATAAAAGCCAGCCAGGAGGTCCAGGGCCCGCTCCTTGGTGTAGAAGCCGATGATGTTCTTCATGATCTCCGGCTCCTTCCGCCAGTCCAGGGACTGCAGGTAGTTAGCAGCCATGATGTAGATTTCCTTCTGCCTGGACACGCTCGCGAAGAACGTGATTTTCTCCGTGTCTCCGGATTTGAGCAGCGCCCTCATGGCCTAGGCAGAGAGACAGCGGGGCTCAGGCAAGCAGGGGCTGGGCCGGGACAAGCACAAGGGACCCCGAGCAGGAGCTCTCACAAGAAGAGTGGCTCAGGGCTGCCCGGTAGAGAGAGATCTTAGTGGTTGTGCTCTTCCTGGCCAGAAAGGCTCAGCCCTAGCTTGGGGTCATCACGAAGGCAAATGGAGATGCGTGCAGGGGGCCCGCAGCCTAACTGCCTGTGAGGTAGCCGCGGGCTGGGGCCGGGAGAGGCTCACCTTCAGCTTGTTGCCGGCCTGCGTGTACTTCTTGGTGGCCAGGTGGTAGCTGCCCTGGCGCATGCAGCAGTCTGCTATCTGCTCCAGCAGCTCCCGCCGCGACTCCTCAGGCAGGTCCGAGGAGTCCTTGGCCACGGTCATCTTTTCCGCCATCTCCTCGGTGATGCTCATGTTCTGCCCCAGGCACAGCTGCAGGGCTTCCTGATACTGCAAAGGTGCAGAAATGGGACGGGGCTGCCGAGGGGGCCGGGAACTGAAGTGCGCCCCTCATCTGCCACCGCTTCAGAGGAAACCAGGCCCCTCGGCTCAGCGGCGGCTTCTGTCTAGCTGGGGTGGGTATGGAGGGGACAAGGATGTCTCCCCTGCCTCACCAACCTACAATCATTCACGTTACTTTCTCACGCTGTTAACATTCCAGAATGGAACGAAGGAAACAATAGTCTCAAGTGATATATGCTCAAGAGAATATTACGTTTGGGAGAAAAGGAAATTGGTAATTTTCTTCTATAATTCTGAATTTTTAAAGTTAAATTTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCAGTCACGGCAGCCTCCACCTCCCCAGGGTCAGGTGATCTTCCTACCTCAGTTTTTGTATTTTCAGTAGAGACGGGGTTTTGCAATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTGCAGGCACAAGCCACCGTGCCGGCCTGATTTTCCTAACATTTTAAGAAATATATATATTTTTTTCTGAGGTGGGGTTTTGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTACCAAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCGGCTAATTTTGTAATTTTTTTTAGTAGAGACAGGGTTTCTCCCTGTTGGTCAGGCTGGGCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCCTCATTTTAAGAAAAATTTTACATTCTTCACTTGAGAATATGTCTTAGGCCGGGCATGTTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGAGAGGATCACTTGGGCCTAGGAGTTTGAGACCAGCCTGGGCAACACAGTCAGACCCCCATCTCCACAAGAAAAAAAAACAGTAATAACCCACAAATATATATGAAGTAATAACACATTTATATTTAAAAAAAAAAAAAAAAAGAATATGGCTGAGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGCTGGATGCCATGGCTCATGCCTGTAATCTCAAGCACTTTGGGAGGCTGAGGAGGGTGGATCATGAGATCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAACACAGAAAATTAACACAGGTGTGGTGG 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Task1_train_22045 | A variant was discovered on Chromosome 16, affecting IFT140 (intraflagellar transport 140). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Retinitis pigmentosa | CACACAGCCTCAGTTTGAGCCGTTAAGCCTTCGTTTCAGGAGCCTTGTGTGGCGGGATGCTGCTAGTGAGCAGCACTCAGGCCTCACCGTCTGGTATTCCTCCTTCCGCACGTAGTGCTCCACCAGGAAGCCATAGACGTCCCCGATGCGGATGGTGCTGTCCAGGTCTGGTTCCTCCAGGAGCAGCTCACACTGCTTGATGGACTCCTTGGGGTCCTCTGTGTACGTCCTGCCGAGAGCAGAGATGAGGCCTGGGCCCCGAAGCCCTGAACACCTACTGCTATCAGAGGTCAGAGGAGACTCTTGGCCTGTAAGAGGAGCTCTCCGGAATGGCAGGAGGAAACTTTCTATGAAGTTAAATTCATTAATTCCTTAATTTGTTCATTCATAAATTAACTCATCCATGTAACATTCTTACTGATCACTTGAATGCTGGGTCCTATGCTTGGACTGAAGACCAAAGACTTCCGACCCCTAGTTCCTGCTCTATGGAACAGTCCAGAGGGGGCTAGAAACCTCTGCACAAAGCGTGACCCAGAGGGGATGTGGTGCATGTGGACAGGGTACACGGAGAGGCGCACGGCACCCCTTGCCCAAGGCCGCTGGGAAGAACCCTCCAAGCAGAGAGGCTGCCCGCACACAGGCTGCGTGTGTGACCTGGCGTGAGGGTCTGTGGCAGAGCAGGGTGTGTGGCCTGTGAGCTGGGGTGACACCAGGGAGGTGAGCCTGCTGGAACACAACATGGTCCAGGGCAGGTGACTGGAGCCGTGTGGAGCTCAGGCTCCCATGTCAGGAGGGTCCAGGGCCCATCTGGCCACCCACTGACTCGGCCATTCCAGACAGGCGCCTGGCCTGCCCTCTGACCCCTGGCCCATAGAAGGTTGCCCACCCTGGCCCTCACACGTCGTCTCCCCTCCACCCACGTCCTGTGCTATCCCTGATGACCAGCTGCTATCGATTCTCCTCCGCTCCTGCCCTGTGGCCTCAGCTCAGCAGACATCTGTGAGACGCTGATACCCCAGAATCGACACGTGCAGGTGGACCGTGCCCTTCCAAGGGGCACCGCTTTGTACGACCTTGTTCAAAGGACTTCTGGAACTCTTGTTTTGGAAAAGGTTCTCCGATAAGGAAAACAGCCCTGCCAGCTGAGACAGAAGCTGGGCCCTGAAGCGCACAGGCGAGTGCCCACCGTGGTGGCCACACAGCAGCTCTCTGAAAAGCTGAGTCACCTGCCCATAATAAAGATGGGGAGGTGTTCAAATAAACTTAGCATCTTGGCCTCTCCTGAAAACCGAGACCATCGGCTGGCTGCCTGGGTCTCCTCTCCACAAGCTTGGAGCTGGTGGCAGTTGACCTGTGGAGAGGCATGAGCCCTCTGGTCACCATGGTCCCCCAACCCCAGGTCACACAGCGGCACTCACTCAGGACTCCCCTGCCCGGCCCCTGCACACCCTCAGCAGGTCTGTGGCTCCCCAGACACACCCTCTCCTGCTCCACATCTGCCTCCTCCTCCCACTCCCCCACCAGGTTTCTCTCTCAGCGTCTCTGGTGTTTCCAGAACACCTTCCCAAGGCTGTGCCCGGGCTCTGAGGGCTCCCAGGAGGAGGTGGGGTGTGTCTTCAGCAGTAGTGCTGTCCCAAGTGAGCTCCCATCTGCTGTCCTGCCCTTTTGCTGGCTGGGGTTTCTCGTGGTCAGCCCCGGCCCTGTAGTCACATCTGCCCTGGCCTGTCCCCGCTGGCCCCGGGGGCACACCTGCGGGCCTGGATGAACCTCTTCACCAGTGCCATCCTGCTCTGCAGCTGCGCCAGCCTGGTCTCCTGGTCCAGGGGGCTCTTGGCCTTGGCCTTGGCCAGGCACTTGTAGGCCTCGGTCAGCGCCCCGTGGGCTTTGTCGTAGTTCTGGTATTCATCAATCTCCACCTGTACAGATGAAACCCGTCAAGACCTGCCGGGCTCCACAGCCCTCCCCGGGGCCCCGCTGGCATGCCAGGGAGGGCCTGCACCTGGGCACAAGCGTCATAAAAGCCAGCCAGGAGGTCCAGGGCCCGCCCCTTGGTGTAGAAGCCGATGATGTTCTTCATGATCTCCGGCTCCTTCCGCCAGTCCAGGGACTGCAGGTAGTTAGCAGCCATGATGTAGATTTCCTTCTGCCTGGACACGCTCGCGAAGAACGTGATTTTCTCCGTGTCTCCGGATTTGAGCAGCGCCCTCATGGCCTAGGCAGAGAGACAGCGGGGCTCAGGCAAGCAGGGGCTGGGCCGGGACAAGCACAAGGGACCCCGAGCAGGAGCTCTCACAAGAAGAGTGGCTCAGGGCTGCCCGGTAGAGAGAGATCTTAGTGGTTGTGCTCTTCCTGGCCAGAAAGGCTCAGCCCTAGCTTGGGGTCATCACGAAGGCAAATGGAGATGCGTGCAGGGGGCCCGCAGCCTAACTGCCTGTGAGGTAGCCGCGGGCTGGGGCCGGGAGAGGCTCACCTTCAGCTTGTTGCCGGCCTGCGTGTACTTCTTGGTGGCCAGGTGGTAGCTGCCCTGGCGCATGCAGCAGTCTGCTATCTGCTCCAGCAGCTCCCGCCGCGACTCCTCAGGCAGGTCCGAGGAGTCCTTGGCCACGGTCATCTTTTCCGCCATCTCCTCGGTGATGCTCATGTTCTGCCCCAGGCACAGCTGCAGGGCTTCCTGATACTGCAAAGGTGCAGAAATGGGACGGGGCTGCCGAGGGGGCCGGGAACTGAAGTGCGCCCCTCATCTGCCACCGCTTCAGAGGAAACCAGGCCCCTCGGCTCAGCGGCGGCTTCTGTCTAGCTGGGGTGGGTATGGAGGGGACAAGGATGTCTCCCCTGCCTCACCAACCTACAATCATTCACGTTACTTTCTCACGCTGTTAACATTCCAGAATGGAACGAAGGAAACAATAGTCTCAAGTGATATATGCTCAAGAGAATATTACGTTTGGGAGAAAAGGAAATTGGTAATTTTCTTCTATAATTCTGAATTTTTAAAGTTAAATTTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCAGTCACGGCAGCCTCCACCTCCCCAGGGTCAGGTGATCTTCCTACCTCAGTTTTTGTATTTTCAGTAGAGACGGGGTTTTGCAATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTGCAGGCACAAGCCACCGTGCCGGCCTGATTTTCCTAACATTTTAAGAAATATATATATTTTTTTCTGAGGTGGGGTTTTGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTACCAAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCGGCTAATTTTGTAATTTTTTTTAGTAGAGACAGGGTTTCTCCCTGTTGGTCAGGCTGGGCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCCTCATTTTAAGAAAAATTTTACATTCTTCACTTGAGAATATGTCTTAGGCCGGGCATGTTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGAGAGGATCACTTGGGCCTAGGAGTTTGAGACCAGCCTGGGCAACACAGTCAGACCCCCATCTCCACAAGAAAAAAAAACAGTAATAACCCACAAATATATATGAAGTAATAACACATTTATATTTAAAAAAAAAAAAAAAAAGAATATGGCTGAGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGCTGGATGCCATGGCTCATGCCTGTAATCTCAAGCACTTTGGGAGGCTGAGGAGGGTGGATCATGAGATCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAACACAGAAAATTAACACAGGTGTGGTGG 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CACACAGCCTCAGTTTGAGCCGTTAAGCCTTCGTTTCAGGAGCCTTGTGTGGCGGGATGCTGCTAGTGAGCAGCACTCAGGCCTCACCGTCTGGTATTCCTCCTTCCGCACGTAGTGCTCCACCAGGAAGCCATAGACGTCCCCGATGCGGATGGTGCTGTCCAGGTCTGGTTCCTCCAGGAGCAGCTCACACTGCTTGATGGACTCCTTGGGGTCCTCTGTGTACGTCCTGCCGAGAGCAGAGATGAGGCCTGGGCCCCGAAGCCCTGAACACCTACTGCTATCAGAGGTCAGAGGAGACTCTTGGCCTGTAAGAGGAGCTCTCCGGAATGGCAGGAGGAAACTTTCTATGAAGTTAAATTCATTAATTCCTTAATTTGTTCATTCATAAATTAACTCATCCATGTAACATTCTTACTGATCACTTGAATGCTGGGTCCTATGCTTGGACTGAAGACCAAAGACTTCCGACCCCTAGTTCCTGCTCTATGGAACAGTCCAGAGGGGGCTAGAAACCTCTGCACAAAGCGTGACCCAGAGGGGATGTGGTGCATGTGGACAGGGTACACGGAGAGGCGCACGGCACCCCTTGCCCAAGGCCGCTGGGAAGAACCCTCCAAGCAGAGAGGCTGCCCGCACACAGGCTGCGTGTGTGACCTGGCGTGAGGGTCTGTGGCAGAGCAGGGTGTGTGGCCTGTGAGCTGGGGTGACACCAGGGAGGTGAGCCTGCTGGAACACAACATGGTCCAGGGCAGGTGACTGGAGCCGTGTGGAGCTCAGGCTCCCATGTCAGGAGGGTCCAGGGCCCATCTGGCCACCCACTGACTCGGCCATTCCAGACAGGCGCCTGGCCTGCCCTCTGACCCCTGGCCCATAGAAGGTTGCCCACCCTGGCCCTCACACGTCGTCTCCCCTCCACCCACGTCCTGTGCTATCCCTGATGACCAGCTGCTATCGATTCTCCTCCGCTCCTGCCCTGTGGCCTCAGCTCAGCAGACATCTGTGAGACGCTGATACCCCAGAATCGACACGTGCAGGTGGACCGTGCCCTTCCAAGGGGCACCGCTTTGTACGACCTTGTTCAAAGGACTTCTGGAACTCTTGTTTTGGAAAAGGTTCTCCGATAAGGAAAACAGCCCTGCCAGCTGAGACAGAAGCTGGGCCCTGAAGCGCACAGGCGAGTGCCCACCGTGGTGGCCACACAGCAGCTCTCTGAAAAGCTGAGTCACCTGCCCATAATAAAGATGGGGAGGTGTTCAAATAAACTTAGCATCTTGGCCTCTCCTGAAAACCGAGACCATCGGCTGGCTGCCTGGGTCTCCTCTCCACAAGCTTGGAGCTGGTGGCAGTTGACCTGTGGAGAGGCATGAGCCCTCTGGTCACCATGGTCCCCCAACCCCAGGTCACACAGCGGCACTCACTCAGGACTCCCCTGCCCGGCCCCTGCACACCCTCAGCAGGTCTGTGGCTCCCCAGACACACCCTCTCCTGCTCCACATCTGCCTCCTCCTCCCACTCCCCCACCAGGTTTCTCTCTCAGCGTCTCTGGTGTTTCCAGAACACCTTCCCAAGGCTGTGCCCGGGCTCTGAGGGCTCCCAGGAGGAGGTGGGGTGTGTCTTCAGCAGTAGTGCTGTCCCAAGTGAGCTCCCATCTGCTGTCCTGCCCTTTTGCTGGCTGGGGTTTCTCGTGGTCAGCCCCGGCCCTGTAGTCACATCTGCCCTGGCCTGTCCCCGCTGGCCCCGGGGGCACACCTGCGGGCCTGGATGAACCTCTTCACCAGTGCCATCCTGCTCTGCAGCTGCGCCAGCCTGGTCTCCTGGTCCAGGGGGCTCTTGGCCTTGGCCTTGGCCAGGCACTTGTAGGCCTCGGTCAGCGCCCCGTGGGCTTTGTCGTAGTTCTGGTATTCATCAATCTCCACCTGTACAGATGAAACCCGTCAAGACCTGCCGGGCTCCACAGCCCTCCCCGGGGCCCCGCTGGCATGCCAGGGAGGGCCTGCACCTGGGCACAAGCGTCATAAAAGCCAGCCAGGAGGTCCAGGGCCCGCTCCTTGGTGTAGAAGCCGATGATGTTCTTCATGATCTCCGGCTCCTTCCGCCAGTCCAGGGACTGCAGGTAGTTAGCAGCCATGATGTAGATTTCCTTCTGCCTGGACACGCTCGCGAAGAACGTGATTTTCTCCGTGTCTCCGGATTTGAGCAGCGCCCTCATGGCCTAGGCAGAGAGACAGCGGGGCTCAGGCAAGCAGGGGCTGGGCCGGGACAAGCACAAGGGACCCCGAGCAGGAGCTCTCACAAGAAGAGTGGCTCAGGGCTGCCCGGTAGAGAGAGATCTTAGTGGTTGTGCTCTTCCTGGCCAGAAAGGCTCAGCCCTAGCTTGGGGTCATCACGAAGGCAAATGGAGATGCGTGCAGGGGGCCCGCAGCCTAACTGCCTGTGAGGTAGCCGCGGGCTGGGGCCGGGAGAGGCTCACCTTCAGCTTGTTGCCGGCCTGCGTGTACTTCTTGGTGGCCAGGTGGTAGCTGCCCTGGCGCATGCAGCAGTCTGCTATCTGCTCCAGCAGCTCCCGCCGCGACTCCTCAGGCAGGTCCGAGGAGTCCTTGGCCACGGTCATCTTTTCCGCCATCTCCTCGGTGATGCTCATGTTCTGCCCCAGGCACAGCTGCAGGGCTTCCTGATACTGCAAAGGTGCAGAAATGGGACGGGGCTGCCGAGGGGGCCGGGAACTGAAGTGCGCCCCTCATCTGCCACCGCTTCAGAGGAAACCAGGCCCCTCGGCTCAGCGGCGGCTTCTGTCTAGCTGGGGTGGGTATGGAGGGGACAAGGATGTCTCCCCTGCCTCACCAACCTACAATCATTCACGTTACTTTCTCACGCTGTTAACATTCCAGAATGGAACGAAGGAAACAATAGTCTCAAGTGATATATGCTCAAGAGAATATTACGTTTGGGAGAAAAGGAAATTGGTAATTTTCTTCTATAATTCTGAATTTTTAAAGTTAAATTTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCAGTCACGGCAGCCTCCACCTCCCCAGGGTCAGGTGATCTTCCTACCTCAGTTTTTGTATTTTCAGTAGAGACGGGGTTTTGCAATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTGCAGGCACAAGCCACCGTGCCGGCCTGATTTTCCTAACATTTTAAGAAATATATATATTTTTTTCTGAGGTGGGGTTTTGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTACCAAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCGGCTAATTTTGTAATTTTTTTTAGTAGAGACAGGGTTTCTCCCTGTTGGTCAGGCTGGGCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCCTCATTTTAAGAAAAATTTTACATTCTTCACTTGAGAATATGTCTTAGGCCGGGCATGTTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGAGAGGATCACTTGGGCCTAGGAGTTTGAGACCAGCCTGGGCAACACAGTCAGACCCCCATCTCCACAAGAAAAAAAAACAGTAATAACCCACAAATATATATGAAGTAATAACACATTTATATTTAAAAAAAAAAAAAAAAAGAATATGGCTGAGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGCTGGATGCCATGGCTCATGCCTGTAATCTCAAGCACTTTGGGAGGCTGAGGAGGGTGGATCATGAGATCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAACACAGAAAATTAACACAGGTGTGGTGG 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Task1_train_22046 | Here is a mutation in IFT140, LOC126862260 (intraflagellar transport 140| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:1574508-1575707) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Saldino-Mainzer syndrome | AAAAGGCTAAGATGGTAAATTTTGTGTTCTGTGTGTTTTTACCCCCCACCATAGGTGAGTGCACCATTCCCTGTGTATGATCAGATGCCAGCGTGAAGGATGGCGAGTCTACACTTGCGGACCTCCTGGGTGTGCCGTATGTGAAACCTAGGGCAGGGGGCACCCACCGCAGCCTTCCTGGAGAACTCATAACCAAGCAAGCAGCCATTCCCACAGCCTCTGGGGACAGGAGACCTGAGCCGTGGTGCCTGCGTGGAGCCGAGCCCAGGCCCCGCTGGCCCCGTACCTTCCTGGCAGCCAGCAGCAGCTCTACCGCCCTCTCGTACTGACTGTGCTCGATGAAGAAGTCGGAGCAGCGGGCCAGGAGCGCAGGGTCTGACGTCTCATCCAGGTCCTCTGCTATGAGCTGTAGGGCCACAAACTGCTGGGTGGCAAAGGCCAGCTCCAGGGCCTTGGAGAAGTGGCCAGCCTGCGGATACGGTGGGCTCTGAGCAGCTGCCCGAGGCCTGGGGGCCCGAGCACGGAGGCCTCGCACAGGCAAGGGCCCCCTGGCTTGCTGCCCCTCCCCCAGGTCCCCACCGGTGGCCAGCCCTCACCTTGTGGTACAGCATGACCGCCCTGTCCATCTGCACGCCCTTCTCCTCGTAGTATCGGGCCGCCTCGATCATGTCCTCGGGGGAGCTCAGCAGGGCCAAGTTCATGAGCTGGTCGTCCAGGCCGTTCTCCTGCAGGGAGGGAGGCAGGGCCCTGAAGCGGCTCCCACTGGCTTCCCCAGGTCCGCTGAGATTCTGGAATGTGGCCGGGTGCGAACCCGCCCCTTCACTTTGACACACTGCTCAGCGATCTCTGCGGTGATGGGTTTTAAGGAGCTGATGACTTACTGGGTTTGTCTACAAGGATTTTCCGATGCTCTGGGTTCTATTTCACAGAGCACTGCAAGAAATACCTGACACGGGAGATGCTTCTGGAAGCGAGAGCCCAGGTTGGGACATTTGTGTGGTGCAGAACGCCCAACAGCTATCTAGGAAGGGTCTGCCGTCTGCAAGGCCATAGGCCGTGAGCAGCCTCACCACCCACTCAGGAGCCCTGGAGCCTGGGAAACATCTGGGGACAATTCAGTGCTTTGCAAACAATGTCAGATGGAAGCGGCCAGGGGTGGGCAGAGGGGTGGGCGGGTGAGGCAGACGGGGTGAGCAGTGAGTGGCAGACACTGGCCGGACCACGTGTCACTGACACGATTCTCTCTGTCCACTTTTCCACTTGAAGCTCTCCTCAGGGGACCTCGAGAAGCGCCGGCTCCCCACCCCGGGCCCGTGGTACCTTGCACAGGCGGATGGCATTCTTGAAGGCCTGTGCCCGGGTGTAGAAGTGCACCGCCTGCCCGACCTCCTCCTGGCTCTCGTACTGGCGGGCGAGGTGGTAGGAGGCCGCCAGGTTTCCTGTCTCGTTGGCTATTTGCGCAGCCTAGAAAGACAAAGAACCCAAAGACGAGACACGGTGGCCTTGTGTCTGCCTCGTGTCCGCCTGGCCGGCTCCCCTGCGGGGACCTTACCTTCTGGACATTGCCCTGGAAGCAGTGGATGCGGACCAGGGAGAAGTGGTCCCGGGCCAGCTCGTAGTAGTGCAGCGCGGCGTCCATCTCGCCCTGGCTCTCCAGGTACTGCGCCCACCACCGCCACAGGGTCCTGCGGGCAGCCCAAGACCATGGATTCTCCACCCGAGCCCCGCTCCAACCCGGGACGGCCCCCACCCCGCCCCTGTGCCACCCTTAGAGTGCATGTCACCTGACCTGCAAACAGGCTGGGCCAAGAGTGAGGACCCCTGGCTTTGTCCAAAGGGAGGGCCTGGCTCAGGGCCCTGGCATGGCTCTGAGGAGCCGGGAGGACGCTGCCCACTCGTGCAGGAAGCACGGGAAAGGGAGCCGTCTCAGCAAGCCCTGGGGTCCCTGCAAACCTCCAGGATGGAGTGCGGTCCCACCAGCCCTGGTGGGGACACTCACTTATCCTTCATTTTATTCACGTAGAGCTCCAGGGACGGCAGGTCCTCCGACAGCATCCTGGGCACCTCGAAGCGGTGCGTGTCCGACTTCTCGTAGCTGTGAGAGAAGGAGACAGAGGTCCTCGTTCCCTCCCATCCCAGCCCCACGGGAACCGGGTGGGCTGAGGGGCAGCGTCGGTGAAACGCATCAGAGCGGTGGCCCTCGGGGTGTGTGCTCCTGGCCTGCAGCTCTGCAGACCCTGAGCACACGTGGCCAGGGGGCAGTGGGGGCTTCCTGCACTGTGGGGGCCCGGGAGGCGGGTCGCCCATCCACACCCCGGGAACGGGTCTAAGAGCAGCTCCTCCTCTGGAGAGGGTGACATGGGGTTTGTCTGTCCTCAGGAGACATCAGGCCCATCTGTGCTCGGCAACTGACACCACCAATGGGACAGACATCTTTCTGTCTCCTGCCTGGGAAGCTGGGTGGCCCAGGATGGAAGGGGCAACCCCACATCTCCGAGACTCCCAGAAGCTTCCTGCCGAGAAGGCTGCCACCACCCTGAGACAGACGCCTCCTCTAAGAACCTCCCTGGCCACCTCACCACAGCACACACAAGAGGCCTCACAAGCCAGGGCCATCCAGAGAGGCAGGGAAGAGGCCGCGAGGGCCGCACTCACTAACTGAGGGCCCGGCTGCAGTCGGCGCTGGCCTCCAGGTGCCCGGCATAGCGGTGGTAGGTGCTGCGCAGGTGCACGCGATCGTGGTGCTCGGCTACCTGGAGGGCCTCCTGCCACCGGCCCGCAGCCTGGTAGAACTTGTTCAGGAGGTCGTGGCGCTTGCACTTCCTGTACAGCTGCTCGGCGTCCTCCTGAGGAATGAGGATGGGCAGGTGTCGTGCAGCCTCCACACACCCACGTCTCAAACACACTGTTCCACGCCAGGCCACCGGTCACCGCACCTTCCCACACCGCCAAGCACACTGACACACGGGGCCGCTGTGGGCACAGCAAACGCCACACACCCACGGGGCATCCCCGTCCCACGGCTGGAGAGTGAGATGCACCACCAAGGGGTACCCCACCTCCCACAGCCCCCCTCCCACAGCCCCCCCTCCCACAGCCTCCCCAGAAGTCCCGTGCTCAGCCCTGCTGACCTGGGGGTCTCTCGGGCGCTCTGTTCCAGGCCCACACACCTGACAGGCACACACCCTGGAGAGCCGGCGGTCGCCTAGCCTCCACCCACCTCACCTCCACCGCCGCTGTCTGCCCAGCTCTCCTGGGTCATGCCTCTCGGCTCTGCCCACATCAGTGCAGGCTCAGGCCGGTGGGCGTGCCTCCTCCTTCCCCAGGGGGCCGTGGCTGTGGCAGGCGTGGTGCCTTCCCACCCACCCCATGGCGGGCGCCCCTCACCAGCATGCCCAGCTGCGTGGCCAGCACGGCCACGCGGGCCTCTAGCTCCGGCTCCTGCTCCGCCTCACGCAGCGCTCGGGCCCCGCGGGCATGGCCCATGTTCCCCAGGCACACCTTGGCCACGTCCAGCCGCTGGGTCTTCACGCACATGCGCGCCATGTTCTCCCAGACGGCCTCACTGTGGGCAGACGGGGGTCTGTGAGGCTCCTGCCCAGCACCTCAGGGCCCCCTGGCCCTACGGCCCCTTCTCCTGGGGCAAGTAGTCATCAGGCACAGCTGCCAAACGGGCATGAGGAGGGGCCTTCACCCATCGGCTCCGCCCCTGGGCAAGACTGCAGGCCATGCAGAGAGGTGCCCGTCACGAGTCCCACGGCCTTCCTAACCCCAAGAGGCAGGGGCCGGGTCCCATTAAAAGACAGAAGGATCTCTTATGCAGATCACCAGGCTCCTCCTCCTTTTTCCCTGCTCTAAGCGGCTGTCTGATCAGGAAATGTGGGCTTCCTGTGTTGCTTGCACACACAGGACCTGCTCTGAGACAAAGCCTCCTGCTCTCACCTGAGCCTGAGATTGCAGGGCCCCTGGTAAACCAGCCCTGCACAGCAGGGACCCTCACCCGACAGTCTGGCAGCCAAAGGGTGGAGCCTGGGGGACGGGGTACAGGGCCCAGACCCTGACCCAGCCCTGGAACCTGGAGACAGGCCTGTCTCCC 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AAAAGGCTAAGATGGTAAATTTTGTGTTCTGTGTGTTTTTACCCCCCACCATAGGTGAGTGCACCATTCCCTGTGTATGATCAGATGCCAGCGTGAAGGATGGCGAGTCTACACTTGCGGACCTCCTGGGTGTGCCGTATGTGAAACCTAGGGCAGGGGGCACCCACCGCAGCCTTCCTGGAGAACTCATAACCAAGCAAGCAGCCATTCCCACAGCCTCTGGGGACAGGAGACCTGAGCCGTGGTGCCTGCGTGGAGCCGAGCCCAGGCCCCGCTGGCCCCGTACCTTCCTGGCAGCCAGCAGCAGCTCTACCGCCCTCTCGTACTGACTGTGCTCGATGAAGAAGTCGGAGCAGCGGGCCAGGAGCGCAGGGTCTGACGTCTCATCCAGGTCCTCTGCTATGAGCTGTAGGGCCACAAACTGCTGGGTGGCAAAGGCCAGCTCCAGGGCCTTGGAGAAGTGGCCAGCCTGCGGATACGGTGGGCTCTGAGCAGCTGCCCGAGGCCTGGGGGCCCGAGCACGGAGGCCTCGCACAGGCAAGGGCCCCCTGGCTTGCTGCCCCTCCCCCAGGTCCCCACCGGTGGCCAGCCCTCACCTTGTGGTACAGCATGACCGCCCTGTCCATCTGCACGCCCTTCTCCTCGTAGTATCGGGCCGCCTCGATCATGTCCTCGGGGGAGCTCAGCAGGGCCAAGTTCATGAGCTGGTCGTCCAGGCCGTTCTCCTGCAGGGAGGGAGGCAGGGCCCTGAAGCGGCTCCCACTGGCTTCCCCAGGTCCGCTGAGATTCTGGAATGTGGCCGGGTGCGAACCCGCCCCTTCACTTTGACACACTGCTCAGCGATCTCTGCGGTGATGGGTTTTAAGGAGCTGATGACTTACTGGGTTTGTCTACAAGGATTTTCCGATGCTCTGGGTTCTATTTCACAGAGCACTGCAAGAAATACCTGACACGGGAGATGCTTCTGGAAGCGAGAGCCCAGGTTGGGACATTTGTGTGGTGCAGAACGCCCAACAGCTATCTAGGAAGGGTCTGCCGTCTGCAAGGCCATAGGCCGTGAGCAGCCTCACCACCCACTCAGGAGCCCTGGAGCCTGGGAAACATCTGGGGACAATTCAGTGCTTTGCAAACAATGTCAGATGGAAGCGGCCAGGGGTGGGCAGAGGGGTGGGCGGGTGAGGCAGACGGGGTGAGCAGTGAGTGGCAGACACTGGCCGGACCACGTGTCACTGACACGATTCTCTCTGTCCACTTTTCCACTTGAAGCTCTCCTCAGGGGACCTCGAGAAGCGCCGGCTCCCCACCCCGGGCCCGTGGTACCTTGCACAGGCGGATGGCATTCTTGAAGGCCTGTGCCCGGGTGTAGAAGTGCACCGCCTGCCCGACCTCCTCCTGGCTCTCGTACTGGCGGGCGAGGTGGTAGGAGGCCGCCAGGTTTCCTGTCTCGTTGGCTATTTGCGCAGCCTAGAAAGACAAAGAACCCAAAGACGAGACACGGTGGCCTTGTGTCTGCCTCGTGTCCGCCTGGCCGGCTCCCCTGCGGGGACCTTACCTTCTGGACATTGCCCTGGAAGCAGTGGATGCGGACCAGGGAGAAGTGGTCCCGGGCCAGCTCGTAGTAGTGCAGCGCGGCGTCCATCTCGCCCTGGCTCTCCAGGTACTGCGCCCACCACCGCCACAGGGTCCTGCGGGCAGCCCAAGACCATGGATTCTCCACCCGAGCCCCGCTCCAACCCGGGACGGCCCCCACCCCGCCCCTGTGCCACCCTTAGAGTGCATGTCACCTGACCTGCAAACAGGCTGGGCCAAGAGTGAGGACCCCTGGCTTTGTCCAAAGGGAGGGCCTGGCTCAGGGCCCTGGCATGGCTCTGAGGAGCCGGGAGGACGCTGCCCACTCGTGCAGGAAGCACGGGAAAGGGAGCCGTCTCAGCAAGCCCTGGGGTCCCTGCAAACCTCCAGGATGGAGTGCGGTCCCACCAGCCCTGGTGGGGACACTCACTTATCCTTCATTTTATTCACGTAGAGCTCCAGGGACGGCAGGTCCTCCGGCAGCATCCTGGGCACCTCGAAGCGGTGCGTGTCCGACTTCTCGTAGCTGTGAGAGAAGGAGACAGAGGTCCTCGTTCCCTCCCATCCCAGCCCCACGGGAACCGGGTGGGCTGAGGGGCAGCGTCGGTGAAACGCATCAGAGCGGTGGCCCTCGGGGTGTGTGCTCCTGGCCTGCAGCTCTGCAGACCCTGAGCACACGTGGCCAGGGGGCAGTGGGGGCTTCCTGCACTGTGGGGGCCCGGGAGGCGGGTCGCCCATCCACACCCCGGGAACGGGTCTAAGAGCAGCTCCTCCTCTGGAGAGGGTGACATGGGGTTTGTCTGTCCTCAGGAGACATCAGGCCCATCTGTGCTCGGCAACTGACACCACCAATGGGACAGACATCTTTCTGTCTCCTGCCTGGGAAGCTGGGTGGCCCAGGATGGAAGGGGCAACCCCACATCTCCGAGACTCCCAGAAGCTTCCTGCCGAGAAGGCTGCCACCACCCTGAGACAGACGCCTCCTCTAAGAACCTCCCTGGCCACCTCACCACAGCACACACAAGAGGCCTCACAAGCCAGGGCCATCCAGAGAGGCAGGGAAGAGGCCGCGAGGGCCGCACTCACTAACTGAGGGCCCGGCTGCAGTCGGCGCTGGCCTCCAGGTGCCCGGCATAGCGGTGGTAGGTGCTGCGCAGGTGCACGCGATCGTGGTGCTCGGCTACCTGGAGGGCCTCCTGCCACCGGCCCGCAGCCTGGTAGAACTTGTTCAGGAGGTCGTGGCGCTTGCACTTCCTGTACAGCTGCTCGGCGTCCTCCTGAGGAATGAGGATGGGCAGGTGTCGTGCAGCCTCCACACACCCACGTCTCAAACACACTGTTCCACGCCAGGCCACCGGTCACCGCACCTTCCCACACCGCCAAGCACACTGACACACGGGGCCGCTGTGGGCACAGCAAACGCCACACACCCACGGGGCATCCCCGTCCCACGGCTGGAGAGTGAGATGCACCACCAAGGGGTACCCCACCTCCCACAGCCCCCCTCCCACAGCCCCCCCTCCCACAGCCTCCCCAGAAGTCCCGTGCTCAGCCCTGCTGACCTGGGGGTCTCTCGGGCGCTCTGTTCCAGGCCCACACACCTGACAGGCACACACCCTGGAGAGCCGGCGGTCGCCTAGCCTCCACCCACCTCACCTCCACCGCCGCTGTCTGCCCAGCTCTCCTGGGTCATGCCTCTCGGCTCTGCCCACATCAGTGCAGGCTCAGGCCGGTGGGCGTGCCTCCTCCTTCCCCAGGGGGCCGTGGCTGTGGCAGGCGTGGTGCCTTCCCACCCACCCCATGGCGGGCGCCCCTCACCAGCATGCCCAGCTGCGTGGCCAGCACGGCCACGCGGGCCTCTAGCTCCGGCTCCTGCTCCGCCTCACGCAGCGCTCGGGCCCCGCGGGCATGGCCCATGTTCCCCAGGCACACCTTGGCCACGTCCAGCCGCTGGGTCTTCACGCACATGCGCGCCATGTTCTCCCAGACGGCCTCACTGTGGGCAGACGGGGGTCTGTGAGGCTCCTGCCCAGCACCTCAGGGCCCCCTGGCCCTACGGCCCCTTCTCCTGGGGCAAGTAGTCATCAGGCACAGCTGCCAAACGGGCATGAGGAGGGGCCTTCACCCATCGGCTCCGCCCCTGGGCAAGACTGCAGGCCATGCAGAGAGGTGCCCGTCACGAGTCCCACGGCCTTCCTAACCCCAAGAGGCAGGGGCCGGGTCCCATTAAAAGACAGAAGGATCTCTTATGCAGATCACCAGGCTCCTCCTCCTTTTTCCCTGCTCTAAGCGGCTGTCTGATCAGGAAATGTGGGCTTCCTGTGTTGCTTGCACACACAGGACCTGCTCTGAGACAAAGCCTCCTGCTCTCACCTGAGCCTGAGATTGCAGGGCCCCTGGTAAACCAGCCCTGCACAGCAGGGACCCTCACCCGACAGTCTGGCAGCCAAAGGGTGGAGCCTGGGGGACGGGGTACAGGGCCCAGACCCTGACCCAGCCCTGGAACCTGGAGACAGGCCTGTCTCCC 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Task1_train_22047 | Here’s a variant in IFT140 (intraflagellar transport 140) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Saldino-Mainzer syndrome | AGAAATGAGAGAGAAAAGAACAGATGCATGAGTGTGTGCAAGACACAAACGCCACCATGCAAAATTAATGGGGAAAAACTCAACAGAAATAATGTAAAACATTGTTAATGCTTTGAGTTCTGAAATAAAAGAGAAATTAAAGCACATAAGAAACGTAAAGCCAGCATGAAATTCGGAGGAACGCCAATCTGGTGACACTTGTCTATTAAAATACGGGAATTAAGGAAACATGCATTGACAGAGCAGGGAGCCCTCCATTTGGCGAATCACACGATGCTTTCCCAGTCTTCATGAAGCCAGACTGCCTCCACCGCAGGGAACAGTGTGACGCATAAACCAGCACCACGCCGGCCTCTGCTGGCTGTGCAGCCTGGCTCTACATGGTGACCAGGAACACGGCCGCCAACCGCACCCAGGTTCGCGTTTGTGTGAATGCTGTTAATTCATCACTGCACACAAGGTTCCAGCAGAGCCCGAGGACCAGAGGCCAGCACACACCTGGTCACGTCATTGTCACAAGTTAGGCAGTGCCCCACCCCACCACCACCGTGTCCTTTATGCCAGGTCCTATGAAGGTGAATGCCAGCTCAGGGGTGTGTGTGGAGCCGGTGCGCCCGCGGTCCACCGTGGTGGCTGCTGGTGCAGTAGCATCTGTGTTGGCTTCTGTGGCCATGCAGGGCTGCCTGTCCTTCCCCTTCTCGGAATGTCCCTCTGGGGTCTACGCTCCCTCTGTCCCAGTTTAAATGCTCCCTCGACCCACCTTGGGTTATAAAAGTAACACAGGCTTACTGAAGAAAATTAGAAAAGTACAGAGTTCATTCTTAACATCGATAAGCCACTGCATGTGGAAATTCAAAAGCAATCCAGGTCCGAGTCTACAGGGTTTAGTCCTTCCTCTGATTTGACAGTAAACAGGAAGAGGCAGAGAAGACTCTGTGCGTGTTGTTTGCTGACGGAGTGTGTAACAGGAGAGAAGCTTCCATGTTTCACAGAAATAAAAGCAGCAGCAGCTGGTGGCATCCTAGGTCCCGAAAGGTGGAAGCTGGTGGCCCCCTGCCTCCCGCCTGCAGAACCCCTGTGGGGCTCACAGGCCGGCGCCAGCTGGGACGTGAGTCTGAGCCTTAGGTCAGCCAGGCTCCTCTCTGAAAAATCCCCACACGTGACTCGGGATGCTCCCAGAGGCTGAGAACAACAGGTCAGTGAAGCGAGGGGAGCAGCTCTCTCAGAGCCAGGCACTCCACCGTGTCTCAGAATGCTCGTGGGGCACACATGGGCTGCTGTTCTGCAGAGAAGCTGCAGATCCTTTGATCAGCACGCCCTCTCAGAAGCAGAGAATGACTGTTTCAGGTCCAAAAGGGACCTTGGAGACACGGGGACCAAGTCGCAGAGAAGGAAATAACTTGTTCAAAAGAACCTACTGGGGTGTGTGTACTGATGACGATCCCATTCTCTCAGTAATTTAAAAACACGTCCATGCATGAGTCACACACGGACGGGTGTCCAGAAGCCAGAACCCTACTGAAAGGAGCCACCAGCCTGCCCACAGTGGCTGCCTCCAGGCTGGGATTATGGAGATTTGTACTATTTGGGTCTTTACTTCATTCTTTGTAGTTCCTAAGATCCCTACAGTGAATATAGAAATGCATAATTTTAAGAAGGCAGCTAGAATTTTAGAAAGACAGAAAAGCTAAAAAGGTGTTCAGCATTCGGGGAAAAGGCAAGGGGGAAGGGTGCAGAGTCCTGAGTCCTGCCCGAGAGCTCCTTCACCCGGAGACAGCACTCATTAGCACGAGTTCTCTCTATCCTGAGAGCAAAACCACTTCCAATTCTCCCCAGACAGACCGCAGTGTTTGCTGGAATTTCAGGCGACAAGTGAGACTGGATGGCTGATGCTGTCTACGGAGAGGGAAGCCCGGCAGAGCCACGAGGGCTAACTCACATTTCAGCTCCCTGGGACGCTTGCAAGAGCCCAGCCAGGCAAGGGGAGAGATCAGAAGACACCTGTGCGGATGTCGTGGCTTCGTACCTTTCTTGTGAAGTAGTAATAAGGCACTTCCATCCCCAGGAGACTGTGGGAGGTGGCAGGCCGGGGGAAGCTCTCATGAAGCAGGAAGCCGTGCTCTTCGGAAATGAAGAAGGACAGGATCAAAACATCTGCCTGGGAGAGAAAGAAAAGTACTGTTCTGTTTTTTTTTTTAACTTACATAAATTTCTGGGGTATGAGTGCCATTTTGCTACACACACTGCGTCACGGTGGGGTCGTTGCTACACACTGCGTCATGGTGGGGTCGGGTGCTTTGCTTTGATTACACCACCTTTTATCTGCTCCACTTGGGAAAAACCAACACGCCTACTGGAAGGACGCACCTCGTCCAGCTTGCGACCACTGGACTCTCCCAAGTGACTGATTTTCTTGCAGCAAAGGCTCATCATTCCCACCCTGAACTGGTGACTGCAACTCAAAAGAGCTTTCATGGTTTAAAAGTTCTCCCTCTTTGGCGGCTTTACTCTGATTTAAAAATCAACAGTAGCAGGCTGCGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTAGGCACTTGTAGTCCCAGCTACTTGGTAGTCTGAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCAGTGCACTCCAGCCTGGGTGACAGAGCAGGACTCCATCTCAAAAATAAAAGAAGAAAAAAAAATCAACAGTGGCACCACCAACAAAGAGCCCCGACCCTGCTTTCAAGGAACAGGGAACACGCAGCACAGAAACCACATGCTCTGTGGGTCCATTGCACAGAAGCAGAACAAGCAACACCAGGACATGCGCCCATACCTGCAGCTGCTCTGGACAGGAAACCAGAAGAGGTGAAGGGAAGGCAAAGCCTTTCCTTGCTACCTGGTGTGAGTTCAGACAAGGGCGCATCATCACAGAGCAGACAAAGAGCCCTAGGATCAAACTGCCAGGAGACGGCCCTACCTCCCTGCCACGTCTCCATCTTCCCCGGGTGTCAGCCCGCCCATCCTCCCAACTGCCTGGGTCACCCCCACAGCCTGTATCTTGAAGTGGCGCCTCGGGCAGTGTCTTCCCCTCCCTGCTCTGGTGGTGGAGATGCCACCTGGACGTGTCCTCCCGCTCAGCGCCTGAGAACCAAGGGTGGATTTGCTTCTGAACTCAGGGTATCAACACTGACTGCAGATAACTTTTTTTTTTTCTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGAGCAGTGGCGCGATCCCGGCTCACTCCGCCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGCGACAGAGAGAGACTCAAAAAACAAACAAAACAAACAAACAAAAGATTTCTTTCCTAGAGAGAGAATCACATGTAGCAGTTGAGACAAGAGAACCAAAAAAATGCCATTCAGGTCAGACCAGACAGTAAGTGTGGAGCTGGCCCATGGGCATAAACCTCAAAGAGGAGACACCACACACCGTGGCTTTTCTGCATAGCTCAAAACAGACCTAGCAATGGCAAATCCATAGAGGTGGCATCGAGGTTACAGTGACGCTGCCATCAGTGGGAGCTGTGAGGCAGATGCTCTACTCCACGTGAACGAATTTTCAGGACCCCTTTCCCAGACCCCATGCTAGGAAGATTTTTTTTATTAATTCTTATTATTATTCTTTTTTAGAGACGAGGGTCTCAATATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGTTCCCTCCCGCCTTGGCCTCCCACAGTGCCGGGATCACAGGCGTGAGCCACCGTGCCCAGCCCATGAAGATCTTAAGTCTGTCAAATGGCCACTGAGTGTGTCTAAACTCAAATACAACAGGCAGAGCGTACCGCAGGGCCAGCGCGCCCATCTTGGGGCTGCCCGTTTGCAGACTGAGGCTGGGAGCGC 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AGAAATGAGAGAGAAAAGAACAGATGCATGAGTGTGTGCAAGACACAAACGCCACCATGCAAAATTAATGGGGAAAAACTCAACAGAAATAATGTAAAACATTGTTAATGCTTTGAGTTCTGAAATAAAAGAGAAATTAAAGCACATAAGAAACGTAAAGCCAGCATGAAATTCGGAGGAACGCCAATCTGGTGACACTTGTCTATTAAAATACGGGAATTAAGGAAACATGCATTGACAGAGCAGGGAGCCCTCCATTTGGCGAATCACACGATGCTTTCCCAGTCTTCATGAAGCCAGACTGCCTCCACCGCAGGGAACAGTGTGACGCATAAACCAGCACCACGCCGGCCTCTGCTGGCTGTGCAGCCTGGCTCTACATGGTGACCAGGAACACGGCCGCCAACCGCACCCAGGTTCGCGTTTGTGTGAATGCTGTTAATTCATCACTGCACACAAGGTTCCAGCAGAGCCCGAGGACCAGAGGCCAGCACACACCTGGTCACGTCATTGTCACAAGTTAGGCAGTGCCCCACCCCACCACCACCGTGTCCTTTATGCCAGGTCCTATGAAGGTGAATGCCAGCTCAGGGGTGTGTGTGGAGCCGGTGCGCCCGCGGTCCACCGTGGTGGCTGCTGGTGCAGTAGCATCTGTGTTGGCTTCTGTGGCCATGCAGGGCTGCCTGTCCTTCCCCTTCTCGGAATGTCCCTCTGGGGTCTACGCTCCCTCTGTCCCAGTTTAAATGCTCCCTCGACCCACCTTGGGTTATAAAAGTAACACAGGCTTACTGAAGAAAATTAGAAAAGTACAGAGTTCATTCTTAACATCGATAAGCCACTGCATGTGGAAATTCAAAAGCAATCCAGGTCCGAGTCTACAGGGTTTAGTCCTTCCTCTGATTTGACAGTAAACAGGAAGAGGCAGAGAAGACTCTGTGCGTGTTGTTTGCTGACGGAGTGTGTAACAGGAGAGAAGCTTCCATGTTTCACAGAAATAAAAGCAGCAGCAGCTGGTGGCATCCTAGGTCCCGAAAGGTGGAAGCTGGTGGCCCCCTGCCTCCCGCCTGCAGAACCCCTGTGGGGCTCACAGGCCGGCGCCAGCTGGGACGTGAGTCTGAGCCTTAGGTCAGCCAGGCTCCTCTCTGAAAAATCCCCACACGTGACTCGGGATGCTCCCAGAGGCTGAGAACAACAGGTCAGTGAAGCGAGGGGAGCAGCTCTCTCAGAGCCAGGCACTCCACCGTGTCTCAGAATGCTCGTGGGGCACACATGGGCTGCTGTTCTGCAGAGAAGCTGCAGATCCTTTGATCAGCACGCCCTCTCAGAAGCAGAGAATGACTGTTTCAGGTCCAAAAGGGACCTTGGAGACACGGGGACCAAGTCGCAGAGAAGGAAATAACTTGTTCAAAAGAACCTACTGGGGTGTGTGTACTGATGACGATCCCATTCTCTCAGTAATTTAAAAACACGTCCATGCATGAGTCACACACGGACGGGTGTCCAGAAGCCAGAACCCTACTGAAAGGAGCCACCAGCCTGCCCACAGTGGCTGCCTCCAGGCTGGGATTATGGAGATTTGTACTATTTGGGTCTTTACTTCATTCTTTGTAGTTCCTAAGATCCCTACAGTGAATATAGAAATGCATAATTTTAAGAAGGCAGCTAGAATTTTAGAAAGACAGAAAAGCTAAAAAGGTGTTCAGCATTCGGGGAAAAGGCAAGGGGGAAGGGTGCAGAGTCCTGAGTCCTGCCCGAGAGCTCCTTCACCCGGAGACAGCACTCATTAGCACGAGTTCTCTCTATCCTGAGAGCAAAACCACTTCCAATTCTCCCCAGACAGACCGCAGTGTTTGCTGGAATTTCAGGCGACAAGTGAGACTGGATGGCTGATGCTGTCTACGGAGAGGGAAGCCCGGCAGAGCCACGAGGGCTAACTCACATTTCAGCTCCCTGGGACGCTTGCAAGAGCCCAGCCAGGCAAGGGGAGAGATCAGAAGACACCTGTGCGGATGTCGTGGCTTCGTACCTTTCTTGTGAAGTAGTAATAAAGCACTTCCATCCCCAGGAGACTGTGGGAGGTGGCAGGCCGGGGGAAGCTCTCATGAAGCAGGAAGCCGTGCTCTTCGGAAATGAAGAAGGACAGGATCAAAACATCTGCCTGGGAGAGAAAGAAAAGTACTGTTCTGTTTTTTTTTTTAACTTACATAAATTTCTGGGGTATGAGTGCCATTTTGCTACACACACTGCGTCACGGTGGGGTCGTTGCTACACACTGCGTCATGGTGGGGTCGGGTGCTTTGCTTTGATTACACCACCTTTTATCTGCTCCACTTGGGAAAAACCAACACGCCTACTGGAAGGACGCACCTCGTCCAGCTTGCGACCACTGGACTCTCCCAAGTGACTGATTTTCTTGCAGCAAAGGCTCATCATTCCCACCCTGAACTGGTGACTGCAACTCAAAAGAGCTTTCATGGTTTAAAAGTTCTCCCTCTTTGGCGGCTTTACTCTGATTTAAAAATCAACAGTAGCAGGCTGCGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTAGGCACTTGTAGTCCCAGCTACTTGGTAGTCTGAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCAGTGCACTCCAGCCTGGGTGACAGAGCAGGACTCCATCTCAAAAATAAAAGAAGAAAAAAAAATCAACAGTGGCACCACCAACAAAGAGCCCCGACCCTGCTTTCAAGGAACAGGGAACACGCAGCACAGAAACCACATGCTCTGTGGGTCCATTGCACAGAAGCAGAACAAGCAACACCAGGACATGCGCCCATACCTGCAGCTGCTCTGGACAGGAAACCAGAAGAGGTGAAGGGAAGGCAAAGCCTTTCCTTGCTACCTGGTGTGAGTTCAGACAAGGGCGCATCATCACAGAGCAGACAAAGAGCCCTAGGATCAAACTGCCAGGAGACGGCCCTACCTCCCTGCCACGTCTCCATCTTCCCCGGGTGTCAGCCCGCCCATCCTCCCAACTGCCTGGGTCACCCCCACAGCCTGTATCTTGAAGTGGCGCCTCGGGCAGTGTCTTCCCCTCCCTGCTCTGGTGGTGGAGATGCCACCTGGACGTGTCCTCCCGCTCAGCGCCTGAGAACCAAGGGTGGATTTGCTTCTGAACTCAGGGTATCAACACTGACTGCAGATAACTTTTTTTTTTTCTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGAGCAGTGGCGCGATCCCGGCTCACTCCGCCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGCGACAGAGAGAGACTCAAAAAACAAACAAAACAAACAAACAAAAGATTTCTTTCCTAGAGAGAGAATCACATGTAGCAGTTGAGACAAGAGAACCAAAAAAATGCCATTCAGGTCAGACCAGACAGTAAGTGTGGAGCTGGCCCATGGGCATAAACCTCAAAGAGGAGACACCACACACCGTGGCTTTTCTGCATAGCTCAAAACAGACCTAGCAATGGCAAATCCATAGAGGTGGCATCGAGGTTACAGTGACGCTGCCATCAGTGGGAGCTGTGAGGCAGATGCTCTACTCCACGTGAACGAATTTTCAGGACCCCTTTCCCAGACCCCATGCTAGGAAGATTTTTTTTATTAATTCTTATTATTATTCTTTTTTAGAGACGAGGGTCTCAATATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGTTCCCTCCCGCCTTGGCCTCCCACAGTGCCGGGATCACAGGCGTGAGCCACCGTGCCCAGCCCATGAAGATCTTAAGTCTGTCAAATGGCCACTGAGTGTGTCTAAACTCAAATACAACAGGCAGAGCGTACCGCAGGGCCAGCGCGCCCATCTTGGGGCTGCCCGTTTGCAGACTGAGGCTGGGAGCGC 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Task1_train_22048 | This alteration in IFT140 (intraflagellar transport 140) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cranioectodermal dysplasia | AGAAATGAGAGAGAAAAGAACAGATGCATGAGTGTGTGCAAGACACAAACGCCACCATGCAAAATTAATGGGGAAAAACTCAACAGAAATAATGTAAAACATTGTTAATGCTTTGAGTTCTGAAATAAAAGAGAAATTAAAGCACATAAGAAACGTAAAGCCAGCATGAAATTCGGAGGAACGCCAATCTGGTGACACTTGTCTATTAAAATACGGGAATTAAGGAAACATGCATTGACAGAGCAGGGAGCCCTCCATTTGGCGAATCACACGATGCTTTCCCAGTCTTCATGAAGCCAGACTGCCTCCACCGCAGGGAACAGTGTGACGCATAAACCAGCACCACGCCGGCCTCTGCTGGCTGTGCAGCCTGGCTCTACATGGTGACCAGGAACACGGCCGCCAACCGCACCCAGGTTCGCGTTTGTGTGAATGCTGTTAATTCATCACTGCACACAAGGTTCCAGCAGAGCCCGAGGACCAGAGGCCAGCACACACCTGGTCACGTCATTGTCACAAGTTAGGCAGTGCCCCACCCCACCACCACCGTGTCCTTTATGCCAGGTCCTATGAAGGTGAATGCCAGCTCAGGGGTGTGTGTGGAGCCGGTGCGCCCGCGGTCCACCGTGGTGGCTGCTGGTGCAGTAGCATCTGTGTTGGCTTCTGTGGCCATGCAGGGCTGCCTGTCCTTCCCCTTCTCGGAATGTCCCTCTGGGGTCTACGCTCCCTCTGTCCCAGTTTAAATGCTCCCTCGACCCACCTTGGGTTATAAAAGTAACACAGGCTTACTGAAGAAAATTAGAAAAGTACAGAGTTCATTCTTAACATCGATAAGCCACTGCATGTGGAAATTCAAAAGCAATCCAGGTCCGAGTCTACAGGGTTTAGTCCTTCCTCTGATTTGACAGTAAACAGGAAGAGGCAGAGAAGACTCTGTGCGTGTTGTTTGCTGACGGAGTGTGTAACAGGAGAGAAGCTTCCATGTTTCACAGAAATAAAAGCAGCAGCAGCTGGTGGCATCCTAGGTCCCGAAAGGTGGAAGCTGGTGGCCCCCTGCCTCCCGCCTGCAGAACCCCTGTGGGGCTCACAGGCCGGCGCCAGCTGGGACGTGAGTCTGAGCCTTAGGTCAGCCAGGCTCCTCTCTGAAAAATCCCCACACGTGACTCGGGATGCTCCCAGAGGCTGAGAACAACAGGTCAGTGAAGCGAGGGGAGCAGCTCTCTCAGAGCCAGGCACTCCACCGTGTCTCAGAATGCTCGTGGGGCACACATGGGCTGCTGTTCTGCAGAGAAGCTGCAGATCCTTTGATCAGCACGCCCTCTCAGAAGCAGAGAATGACTGTTTCAGGTCCAAAAGGGACCTTGGAGACACGGGGACCAAGTCGCAGAGAAGGAAATAACTTGTTCAAAAGAACCTACTGGGGTGTGTGTACTGATGACGATCCCATTCTCTCAGTAATTTAAAAACACGTCCATGCATGAGTCACACACGGACGGGTGTCCAGAAGCCAGAACCCTACTGAAAGGAGCCACCAGCCTGCCCACAGTGGCTGCCTCCAGGCTGGGATTATGGAGATTTGTACTATTTGGGTCTTTACTTCATTCTTTGTAGTTCCTAAGATCCCTACAGTGAATATAGAAATGCATAATTTTAAGAAGGCAGCTAGAATTTTAGAAAGACAGAAAAGCTAAAAAGGTGTTCAGCATTCGGGGAAAAGGCAAGGGGGAAGGGTGCAGAGTCCTGAGTCCTGCCCGAGAGCTCCTTCACCCGGAGACAGCACTCATTAGCACGAGTTCTCTCTATCCTGAGAGCAAAACCACTTCCAATTCTCCCCAGACAGACCGCAGTGTTTGCTGGAATTTCAGGCGACAAGTGAGACTGGATGGCTGATGCTGTCTACGGAGAGGGAAGCCCGGCAGAGCCACGAGGGCTAACTCACATTTCAGCTCCCTGGGACGCTTGCAAGAGCCCAGCCAGGCAAGGGGAGAGATCAGAAGACACCTGTGCGGATGTCGTGGCTTCGTACCTTTCTTGTGAAGTAGTAATAAGGCACTTCCATCCCCAGGAGACTGTGGGAGGTGGCAGGCCGGGGGAAGCTCTCATGAAGCAGGAAGCCGTGCTCTTCGGAAATGAAGAAGGACAGGATCAAAACATCTGCCTGGGAGAGAAAGAAAAGTACTGTTCTGTTTTTTTTTTTAACTTACATAAATTTCTGGGGTATGAGTGCCATTTTGCTACACACACTGCGTCACGGTGGGGTCGTTGCTACACACTGCGTCATGGTGGGGTCGGGTGCTTTGCTTTGATTACACCACCTTTTATCTGCTCCACTTGGGAAAAACCAACACGCCTACTGGAAGGACGCACCTCGTCCAGCTTGCGACCACTGGACTCTCCCAAGTGACTGATTTTCTTGCAGCAAAGGCTCATCATTCCCACCCTGAACTGGTGACTGCAACTCAAAAGAGCTTTCATGGTTTAAAAGTTCTCCCTCTTTGGCGGCTTTACTCTGATTTAAAAATCAACAGTAGCAGGCTGCGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTAGGCACTTGTAGTCCCAGCTACTTGGTAGTCTGAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCAGTGCACTCCAGCCTGGGTGACAGAGCAGGACTCCATCTCAAAAATAAAAGAAGAAAAAAAAATCAACAGTGGCACCACCAACAAAGAGCCCCGACCCTGCTTTCAAGGAACAGGGAACACGCAGCACAGAAACCACATGCTCTGTGGGTCCATTGCACAGAAGCAGAACAAGCAACACCAGGACATGCGCCCATACCTGCAGCTGCTCTGGACAGGAAACCAGAAGAGGTGAAGGGAAGGCAAAGCCTTTCCTTGCTACCTGGTGTGAGTTCAGACAAGGGCGCATCATCACAGAGCAGACAAAGAGCCCTAGGATCAAACTGCCAGGAGACGGCCCTACCTCCCTGCCACGTCTCCATCTTCCCCGGGTGTCAGCCCGCCCATCCTCCCAACTGCCTGGGTCACCCCCACAGCCTGTATCTTGAAGTGGCGCCTCGGGCAGTGTCTTCCCCTCCCTGCTCTGGTGGTGGAGATGCCACCTGGACGTGTCCTCCCGCTCAGCGCCTGAGAACCAAGGGTGGATTTGCTTCTGAACTCAGGGTATCAACACTGACTGCAGATAACTTTTTTTTTTTCTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGAGCAGTGGCGCGATCCCGGCTCACTCCGCCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGCGACAGAGAGAGACTCAAAAAACAAACAAAACAAACAAACAAAAGATTTCTTTCCTAGAGAGAGAATCACATGTAGCAGTTGAGACAAGAGAACCAAAAAAATGCCATTCAGGTCAGACCAGACAGTAAGTGTGGAGCTGGCCCATGGGCATAAACCTCAAAGAGGAGACACCACACACCGTGGCTTTTCTGCATAGCTCAAAACAGACCTAGCAATGGCAAATCCATAGAGGTGGCATCGAGGTTACAGTGACGCTGCCATCAGTGGGAGCTGTGAGGCAGATGCTCTACTCCACGTGAACGAATTTTCAGGACCCCTTTCCCAGACCCCATGCTAGGAAGATTTTTTTTATTAATTCTTATTATTATTCTTTTTTAGAGACGAGGGTCTCAATATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGTTCCCTCCCGCCTTGGCCTCCCACAGTGCCGGGATCACAGGCGTGAGCCACCGTGCCCAGCCCATGAAGATCTTAAGTCTGTCAAATGGCCACTGAGTGTGTCTAAACTCAAATACAACAGGCAGAGCGTACCGCAGGGCCAGCGCGCCCATCTTGGGGCTGCCCGTTTGCAGACTGAGGCTGGGAGCGC 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AGAAATGAGAGAGAAAAGAACAGATGCATGAGTGTGTGCAAGACACAAACGCCACCATGCAAAATTAATGGGGAAAAACTCAACAGAAATAATGTAAAACATTGTTAATGCTTTGAGTTCTGAAATAAAAGAGAAATTAAAGCACATAAGAAACGTAAAGCCAGCATGAAATTCGGAGGAACGCCAATCTGGTGACACTTGTCTATTAAAATACGGGAATTAAGGAAACATGCATTGACAGAGCAGGGAGCCCTCCATTTGGCGAATCACACGATGCTTTCCCAGTCTTCATGAAGCCAGACTGCCTCCACCGCAGGGAACAGTGTGACGCATAAACCAGCACCACGCCGGCCTCTGCTGGCTGTGCAGCCTGGCTCTACATGGTGACCAGGAACACGGCCGCCAACCGCACCCAGGTTCGCGTTTGTGTGAATGCTGTTAATTCATCACTGCACACAAGGTTCCAGCAGAGCCCGAGGACCAGAGGCCAGCACACACCTGGTCACGTCATTGTCACAAGTTAGGCAGTGCCCCACCCCACCACCACCGTGTCCTTTATGCCAGGTCCTATGAAGGTGAATGCCAGCTCAGGGGTGTGTGTGGAGCCGGTGCGCCCGCGGTCCACCGTGGTGGCTGCTGGTGCAGTAGCATCTGTGTTGGCTTCTGTGGCCATGCAGGGCTGCCTGTCCTTCCCCTTCTCGGAATGTCCCTCTGGGGTCTACGCTCCCTCTGTCCCAGTTTAAATGCTCCCTCGACCCACCTTGGGTTATAAAAGTAACACAGGCTTACTGAAGAAAATTAGAAAAGTACAGAGTTCATTCTTAACATCGATAAGCCACTGCATGTGGAAATTCAAAAGCAATCCAGGTCCGAGTCTACAGGGTTTAGTCCTTCCTCTGATTTGACAGTAAACAGGAAGAGGCAGAGAAGACTCTGTGCGTGTTGTTTGCTGACGGAGTGTGTAACAGGAGAGAAGCTTCCATGTTTCACAGAAATAAAAGCAGCAGCAGCTGGTGGCATCCTAGGTCCCGAAAGGTGGAAGCTGGTGGCCCCCTGCCTCCCGCCTGCAGAACCCCTGTGGGGCTCACAGGCCGGCGCCAGCTGGGACGTGAGTCTGAGCCTTAGGTCAGCCAGGCTCCTCTCTGAAAAATCCCCACACGTGACTCGGGATGCTCCCAGAGGCTGAGAACAACAGGTCAGTGAAGCGAGGGGAGCAGCTCTCTCAGAGCCAGGCACTCCACCGTGTCTCAGAATGCTCGTGGGGCACACATGGGCTGCTGTTCTGCAGAGAAGCTGCAGATCCTTTGATCAGCACGCCCTCTCAGAAGCAGAGAATGACTGTTTCAGGTCCAAAAGGGACCTTGGAGACACGGGGACCAAGTCGCAGAGAAGGAAATAACTTGTTCAAAAGAACCTACTGGGGTGTGTGTACTGATGACGATCCCATTCTCTCAGTAATTTAAAAACACGTCCATGCATGAGTCACACACGGACGGGTGTCCAGAAGCCAGAACCCTACTGAAAGGAGCCACCAGCCTGCCCACAGTGGCTGCCTCCAGGCTGGGATTATGGAGATTTGTACTATTTGGGTCTTTACTTCATTCTTTGTAGTTCCTAAGATCCCTACAGTGAATATAGAAATGCATAATTTTAAGAAGGCAGCTAGAATTTTAGAAAGACAGAAAAGCTAAAAAGGTGTTCAGCATTCGGGGAAAAGGCAAGGGGGAAGGGTGCAGAGTCCTGAGTCCTGCCCGAGAGCTCCTTCACCCGGAGACAGCACTCATTAGCACGAGTTCTCTCTATCCTGAGAGCAAAACCACTTCCAATTCTCCCCAGACAGACCGCAGTGTTTGCTGGAATTTCAGGCGACAAGTGAGACTGGATGGCTGATGCTGTCTACGGAGAGGGAAGCCCGGCAGAGCCACGAGGGCTAACTCACATTTCAGCTCCCTGGGACGCTTGCAAGAGCCCAGCCAGGCAAGGGGAGAGATCAGAAGACACCTGTGCGGATGTCGTGGCTTCGTACCTTTCTTGTGAAGTAGTAATAAAGCACTTCCATCCCCAGGAGACTGTGGGAGGTGGCAGGCCGGGGGAAGCTCTCATGAAGCAGGAAGCCGTGCTCTTCGGAAATGAAGAAGGACAGGATCAAAACATCTGCCTGGGAGAGAAAGAAAAGTACTGTTCTGTTTTTTTTTTTAACTTACATAAATTTCTGGGGTATGAGTGCCATTTTGCTACACACACTGCGTCACGGTGGGGTCGTTGCTACACACTGCGTCATGGTGGGGTCGGGTGCTTTGCTTTGATTACACCACCTTTTATCTGCTCCACTTGGGAAAAACCAACACGCCTACTGGAAGGACGCACCTCGTCCAGCTTGCGACCACTGGACTCTCCCAAGTGACTGATTTTCTTGCAGCAAAGGCTCATCATTCCCACCCTGAACTGGTGACTGCAACTCAAAAGAGCTTTCATGGTTTAAAAGTTCTCCCTCTTTGGCGGCTTTACTCTGATTTAAAAATCAACAGTAGCAGGCTGCGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTAGGCACTTGTAGTCCCAGCTACTTGGTAGTCTGAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCAGTGCACTCCAGCCTGGGTGACAGAGCAGGACTCCATCTCAAAAATAAAAGAAGAAAAAAAAATCAACAGTGGCACCACCAACAAAGAGCCCCGACCCTGCTTTCAAGGAACAGGGAACACGCAGCACAGAAACCACATGCTCTGTGGGTCCATTGCACAGAAGCAGAACAAGCAACACCAGGACATGCGCCCATACCTGCAGCTGCTCTGGACAGGAAACCAGAAGAGGTGAAGGGAAGGCAAAGCCTTTCCTTGCTACCTGGTGTGAGTTCAGACAAGGGCGCATCATCACAGAGCAGACAAAGAGCCCTAGGATCAAACTGCCAGGAGACGGCCCTACCTCCCTGCCACGTCTCCATCTTCCCCGGGTGTCAGCCCGCCCATCCTCCCAACTGCCTGGGTCACCCCCACAGCCTGTATCTTGAAGTGGCGCCTCGGGCAGTGTCTTCCCCTCCCTGCTCTGGTGGTGGAGATGCCACCTGGACGTGTCCTCCCGCTCAGCGCCTGAGAACCAAGGGTGGATTTGCTTCTGAACTCAGGGTATCAACACTGACTGCAGATAACTTTTTTTTTTTCTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGAGCAGTGGCGCGATCCCGGCTCACTCCGCCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGCGACAGAGAGAGACTCAAAAAACAAACAAAACAAACAAACAAAAGATTTCTTTCCTAGAGAGAGAATCACATGTAGCAGTTGAGACAAGAGAACCAAAAAAATGCCATTCAGGTCAGACCAGACAGTAAGTGTGGAGCTGGCCCATGGGCATAAACCTCAAAGAGGAGACACCACACACCGTGGCTTTTCTGCATAGCTCAAAACAGACCTAGCAATGGCAAATCCATAGAGGTGGCATCGAGGTTACAGTGACGCTGCCATCAGTGGGAGCTGTGAGGCAGATGCTCTACTCCACGTGAACGAATTTTCAGGACCCCTTTCCCAGACCCCATGCTAGGAAGATTTTTTTTATTAATTCTTATTATTATTCTTTTTTAGAGACGAGGGTCTCAATATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGTTCCCTCCCGCCTTGGCCTCCCACAGTGCCGGGATCACAGGCGTGAGCCACCGTGCCCAGCCCATGAAGATCTTAAGTCTGTCAAATGGCCACTGAGTGTGTCTAAACTCAAATACAACAGGCAGAGCGTACCGCAGGGCCAGCGCGCCCATCTTGGGGCTGCCCGTTTGCAGACTGAGGCTGGGAGCGC 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Task1_train_22049 | Here is a genetic alteration in IFT140 (intraflagellar transport 140) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Retinitis pigmentosa 80 | GACTGTGGGAGGTGGCAGGCCGGGGGAAGCTCTCATGAAGCAGGAAGCCGTGCTCTTCGGAAATGAAGAAGGACAGGATCAAAACATCTGCCTGGGAGAGAAAGAAAAGTACTGTTCTGTTTTTTTTTTTAACTTACATAAATTTCTGGGGTATGAGTGCCATTTTGCTACACACACTGCGTCACGGTGGGGTCGTTGCTACACACTGCGTCATGGTGGGGTCGGGTGCTTTGCTTTGATTACACCACCTTTTATCTGCTCCACTTGGGAAAAACCAACACGCCTACTGGAAGGACGCACCTCGTCCAGCTTGCGACCACTGGACTCTCCCAAGTGACTGATTTTCTTGCAGCAAAGGCTCATCATTCCCACCCTGAACTGGTGACTGCAACTCAAAAGAGCTTTCATGGTTTAAAAGTTCTCCCTCTTTGGCGGCTTTACTCTGATTTAAAAATCAACAGTAGCAGGCTGCGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTAGGCACTTGTAGTCCCAGCTACTTGGTAGTCTGAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCAGTGCACTCCAGCCTGGGTGACAGAGCAGGACTCCATCTCAAAAATAAAAGAAGAAAAAAAAATCAACAGTGGCACCACCAACAAAGAGCCCCGACCCTGCTTTCAAGGAACAGGGAACACGCAGCACAGAAACCACATGCTCTGTGGGTCCATTGCACAGAAGCAGAACAAGCAACACCAGGACATGCGCCCATACCTGCAGCTGCTCTGGACAGGAAACCAGAAGAGGTGAAGGGAAGGCAAAGCCTTTCCTTGCTACCTGGTGTGAGTTCAGACAAGGGCGCATCATCACAGAGCAGACAAAGAGCCCTAGGATCAAACTGCCAGGAGACGGCCCTACCTCCCTGCCACGTCTCCATCTTCCCCGGGTGTCAGCCCGCCCATCCTCCCAACTGCCTGGGTCACCCCCACAGCCTGTATCTTGAAGTGGCGCCTCGGGCAGTGTCTTCCCCTCCCTGCTCTGGTGGTGGAGATGCCACCTGGACGTGTCCTCCCGCTCAGCGCCTGAGAACCAAGGGTGGATTTGCTTCTGAACTCAGGGTATCAACACTGACTGCAGATAACTTTTTTTTTTTCTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGAGCAGTGGCGCGATCCCGGCTCACTCCGCCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGCGACAGAGAGAGACTCAAAAAACAAACAAAACAAACAAACAAAAGATTTCTTTCCTAGAGAGAGAATCACATGTAGCAGTTGAGACAAGAGAACCAAAAAAATGCCATTCAGGTCAGACCAGACAGTAAGTGTGGAGCTGGCCCATGGGCATAAACCTCAAAGAGGAGACACCACACACCGTGGCTTTTCTGCATAGCTCAAAACAGACCTAGCAATGGCAAATCCATAGAGGTGGCATCGAGGTTACAGTGACGCTGCCATCAGTGGGAGCTGTGAGGCAGATGCTCTACTCCACGTGAACGAATTTTCAGGACCCCTTTCCCAGACCCCATGCTAGGAAGATTTTTTTTATTAATTCTTATTATTATTCTTTTTTAGAGACGAGGGTCTCAATATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGTTCCCTCCCGCCTTGGCCTCCCACAGTGCCGGGATCACAGGCGTGAGCCACCGTGCCCAGCCCATGAAGATCTTAAGTCTGTCAAATGGCCACTGAGTGTGTCTAAACTCAAATACAACAGGCAGAGCGTACCGCAGGGCCAGCGCGCCCATCTTGGGGCTGCCCGTTTGCAGACTGAGGCTGGGAGCGCGGCGTCTCCTGCACGGCTTCGCATACAAACAGCCGGGGCTCACTCTGGTCCCAGAAGTGGTTCACGGGAACATAATTTTTCAGTCCCTCATCCACAAAGAGGTGGCTCCTAAAAGACAAAGGAAGACCCGTTTCAACCCCAGGGCGGGCACTCCTGCTACCAGTCTCCCTCCCACACACATTCCCGAAGCCTCCAGGTGCTGTCCCAGACCATGGTGTCCACGCGCTCAGCTCTGGGAGAACTTTTGGGGTCTCACTGCCATGCGCCCTACTGGAACATGTTCTCAGATTTTAACAACTGGGCTAAGGGTCCGAGCAAAGCCCAGTTTGAAAGAACCACAAAAAGATGACGCTTTGATTCTGGAGGCCTTATGGGGGCCCAGAAGAATCCCCAAAGCAAAAGGGACCCTTTTCCTTTTCCAGGACCAGCAGGCCAACCTCGAGGTGGGATGGCACCCCCTGCTGGGCGGGGTCGAGGCTTTGGCTCTGTGGTCATGCCGGGTTCCTTGTCCCCACCGGTCCCTGTGCCATGCTGCCCCTTGGACCCAGGTCCCTCCCATCTCTAAAGTTCTATGTTGGATGGGTCCAGAACTCAACAAAATGCTGTGGGGAAACACAATGATGTGCCGGCAGACGACACACAAGGTTTCAAGAGAGAGCAGGTGCCCAAGGTGAGGAGGCCTATGAGCCTCATTCGCCGCCCCCAGGGTGTCACGAACCCAGGCTGCAGAGTGGGACCCTGCCGGGCAGCACGACCCATGGCTGCTGAAGAAGGACAGGACCCGGTGCTGCAGGACATGAAGATCCCCTAGTAAGCCACTGCACCCAGCAATGGAGGTGCCCTCACAGCCACGTTCGGCACCAGTGCAGAGCAGAGCAGAAAGCAGGGCAGAGGGGCGAGTGCCATGCTCCAGACAAGGCGGCTCTGAGGCCCAGAGAGCCCGGGGACACAAGCTGGTTCCCGTGAGGTGAGACCGGCCTGGTACGGGACGGGAACGGACAGAAGGCAGGGGGCAAGATTCGAATGCAGAAAGGAACTCAGAGGCTCCCACAGCTCCCAGGGGAAGCCACACACGGCAGGCGCAGAGTCGAGAGGGAAAAGCATGAATGAAAAGACATTTTGGTATGAGAAACGCTGCGGACCTGGGTGACGGGCAGTGGGGACTAGAGGAAGGGTTCGAGGAGCGGCCCAAGAACAGTGGCAGCAGGGGGAGAGCTGGCACTTGGCCAAGTCAGGCATCATTGTCTGAGGTGGGAGAATGGGGCCTGCACTCGGTGAGCTGTGAAGATGGAGAGTTCCACAGGAAGTCACTGGCAGAGGGATGAAATGAGGCCACCAGGTGAAAGAAGGTTCCAGCACTGGATCTGAGGCGGAAGGTGTGTGGGAGAGGCAGGGGGAATCCAGGGGGGCTGGACAGAAGGGGTGTGTCTGATGGTGGTCAAGTAATGGAGGAGGGAAAAAAAAAGAGAGAAAACCACCCCCGAGCCCAGCCTTGTAACTGCTCTGCTCCTCTGTGAGCATATGCAGGCCCCAGGGTGCCCGTCCTGCTTTCCTGCCCTGCAGGCCTGGCTCACGCAGGCTGGGCGGGCTCAGCTCCGTGGCCCACTTTGCTTTTGTGCTTCACTTTGTGCAGAATCAGCCATGAACTGTGAGTGAACTATCATCAGCACTCAAAGTTCTCCAAATGCCCATTCAGTCACAGAAGGAACTCCAGATATAGTGAAGACAGACGATTGTTCTCCCCAGAAGTACATTCTTTAAACAGGCAAATGCCCCCCTACATGAGAGACGCGGATGGGTCTGAGGTCACCACATTTCTCTCCCTGCAGTGACTCATGGGCCACTTCTACAGATTCCCGGCCAGAACCCTTCCAGAAGTTCCAGTTTCCACTCAGCTAACTCCAGAACCTTCCACCTGAAGGACAGAGACTAAGAACTCCAATCTACCCACTGCCAGAGTGTGCTTCTGTTTTCCTCTTTCTTTTTCCTACTGGTGCCTGCTGGGGCCTTTTGAAGGCGCGTTAACTTAGCAACAACCCGCCCAGAAGCCGAGAAGTAACTGAACAT 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GACTGTGGGAGGTGGCAGGCCGGGGGAAGCTCTCATGAAGCAGGAAGCCGTGCTCTTCGGAAATGAAGAAGGACAGGATCAAAACATCTGCCTGGGAGAGAAAGAAAAGTACTGTTCTGTTTTTTTTTTTAACTTACATAAATTTCTGGGGTATGAGTGCCATTTTGCTACACACACTGCGTCACGGTGGGGTCGTTGCTACACACTGCGTCATGGTGGGGTCGGGTGCTTTGCTTTGATTACACCACCTTTTATCTGCTCCACTTGGGAAAAACCAACACGCCTACTGGAAGGACGCACCTCGTCCAGCTTGCGACCACTGGACTCTCCCAAGTGACTGATTTTCTTGCAGCAAAGGCTCATCATTCCCACCCTGAACTGGTGACTGCAACTCAAAAGAGCTTTCATGGTTTAAAAGTTCTCCCTCTTTGGCGGCTTTACTCTGATTTAAAAATCAACAGTAGCAGGCTGCGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTAGGCACTTGTAGTCCCAGCTACTTGGTAGTCTGAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCAGTGCACTCCAGCCTGGGTGACAGAGCAGGACTCCATCTCAAAAATAAAAGAAGAAAAAAAAATCAACAGTGGCACCACCAACAAAGAGCCCCGACCCTGCTTTCAAGGAACAGGGAACACGCAGCACAGAAACCACATGCTCTGTGGGTCCATTGCACAGAAGCAGAACAAGCAACACCAGGACATGCGCCCATACCTGCAGCTGCTCTGGACAGGAAACCAGAAGAGGTGAAGGGAAGGCAAAGCCTTTCCTTGCTACCTGGTGTGAGTTCAGACAAGGGCGCATCATCACAGAGCAGACAAAGAGCCCTAGGATCAAACTGCCAGGAGACGGCCCTACCTCCCTGCCACGTCTCCATCTTCCCCGGGTGTCAGCCCGCCCATCCTCCCAACTGCCTGGGTCACCCCCACAGCCTGTATCTTGAAGTGGCGCCTCGGGCAGTGTCTTCCCCTCCCTGCTCTGGTGGTGGAGATGCCACCTGGACGTGTCCTCCCGCTCAGCGCCTGAGAACCAAGGGTGGATTTGCTTCTGAACTCAGGGTATCAACACTGACTGCAGATAACTTTTTTTTTTTCTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGAGCAGTGGCGCGATCCCGGCTCACTCCGCCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGCGACAGAGAGAGACTCAAAAAACAAACAAAACAAACAAACAAAAGATTTCTTTCCTAGAGAGAGAATCACATGTAGCAGTTGAGACAAGAGAACCAAAAAAATGCCATTCAGGTCAGACCAGACAGTAAGTGTGGAGCTGGCCCATGGGCATAAACCTCAAAGAGGAGACACCACACACCGTGGCTTTTCTGCATAGCTCAAAACAGACCTAGCAATGGCAAATCCATAGAGGTGGCATCGAGGTTACAGTGACGCTGCCATCAGTGGGAGCTGTGAGGCAGATGCTCTACTCCACGTGAACGAATTTTCAGGACCCCTTTCCCAGACCCCATGCTAGGAAGATTTTTTTTATTAATTCTTATTATTATTCTTTTTTAGAGACGAGGGTCTCAATATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGTTCCCTCCCGCCTTGGCCTCCCACAGTGCCGGGATCACAGGCGTGAGCCACCGTGCCCAGCCCATGAAGATCTTAAGTCTGTCAAATGGCCACTGAGTGTGTCTAAACTCAAATACAACAGGCAGAGCGTACCGCAGGGCCAGCGCGCCCATCTTGGGGCTGCCCGTTTGCAGACTGAGGCTGGGAGCGCGGCGTCTCCTGCACGGCTTTGCATACAAACAGCCGGGGCTCACTCTGGTCCCAGAAGTGGTTCACGGGAACATAATTTTTCAGTCCCTCATCCACAAAGAGGTGGCTCCTAAAAGACAAAGGAAGACCCGTTTCAACCCCAGGGCGGGCACTCCTGCTACCAGTCTCCCTCCCACACACATTCCCGAAGCCTCCAGGTGCTGTCCCAGACCATGGTGTCCACGCGCTCAGCTCTGGGAGAACTTTTGGGGTCTCACTGCCATGCGCCCTACTGGAACATGTTCTCAGATTTTAACAACTGGGCTAAGGGTCCGAGCAAAGCCCAGTTTGAAAGAACCACAAAAAGATGACGCTTTGATTCTGGAGGCCTTATGGGGGCCCAGAAGAATCCCCAAAGCAAAAGGGACCCTTTTCCTTTTCCAGGACCAGCAGGCCAACCTCGAGGTGGGATGGCACCCCCTGCTGGGCGGGGTCGAGGCTTTGGCTCTGTGGTCATGCCGGGTTCCTTGTCCCCACCGGTCCCTGTGCCATGCTGCCCCTTGGACCCAGGTCCCTCCCATCTCTAAAGTTCTATGTTGGATGGGTCCAGAACTCAACAAAATGCTGTGGGGAAACACAATGATGTGCCGGCAGACGACACACAAGGTTTCAAGAGAGAGCAGGTGCCCAAGGTGAGGAGGCCTATGAGCCTCATTCGCCGCCCCCAGGGTGTCACGAACCCAGGCTGCAGAGTGGGACCCTGCCGGGCAGCACGACCCATGGCTGCTGAAGAAGGACAGGACCCGGTGCTGCAGGACATGAAGATCCCCTAGTAAGCCACTGCACCCAGCAATGGAGGTGCCCTCACAGCCACGTTCGGCACCAGTGCAGAGCAGAGCAGAAAGCAGGGCAGAGGGGCGAGTGCCATGCTCCAGACAAGGCGGCTCTGAGGCCCAGAGAGCCCGGGGACACAAGCTGGTTCCCGTGAGGTGAGACCGGCCTGGTACGGGACGGGAACGGACAGAAGGCAGGGGGCAAGATTCGAATGCAGAAAGGAACTCAGAGGCTCCCACAGCTCCCAGGGGAAGCCACACACGGCAGGCGCAGAGTCGAGAGGGAAAAGCATGAATGAAAAGACATTTTGGTATGAGAAACGCTGCGGACCTGGGTGACGGGCAGTGGGGACTAGAGGAAGGGTTCGAGGAGCGGCCCAAGAACAGTGGCAGCAGGGGGAGAGCTGGCACTTGGCCAAGTCAGGCATCATTGTCTGAGGTGGGAGAATGGGGCCTGCACTCGGTGAGCTGTGAAGATGGAGAGTTCCACAGGAAGTCACTGGCAGAGGGATGAAATGAGGCCACCAGGTGAAAGAAGGTTCCAGCACTGGATCTGAGGCGGAAGGTGTGTGGGAGAGGCAGGGGGAATCCAGGGGGGCTGGACAGAAGGGGTGTGTCTGATGGTGGTCAAGTAATGGAGGAGGGAAAAAAAAAGAGAGAAAACCACCCCCGAGCCCAGCCTTGTAACTGCTCTGCTCCTCTGTGAGCATATGCAGGCCCCAGGGTGCCCGTCCTGCTTTCCTGCCCTGCAGGCCTGGCTCACGCAGGCTGGGCGGGCTCAGCTCCGTGGCCCACTTTGCTTTTGTGCTTCACTTTGTGCAGAATCAGCCATGAACTGTGAGTGAACTATCATCAGCACTCAAAGTTCTCCAAATGCCCATTCAGTCACAGAAGGAACTCCAGATATAGTGAAGACAGACGATTGTTCTCCCCAGAAGTACATTCTTTAAACAGGCAAATGCCCCCCTACATGAGAGACGCGGATGGGTCTGAGGTCACCACATTTCTCTCCCTGCAGTGACTCATGGGCCACTTCTACAGATTCCCGGCCAGAACCCTTCCAGAAGTTCCAGTTTCCACTCAGCTAACTCCAGAACCTTCCACCTGAAGGACAGAGACTAAGAACTCCAATCTACCCACTGCCAGAGTGTGCTTCTGTTTTCCTCTTTCTTTTTCCTACTGGTGCCTGCTGGGGCCTTTTGAAGGCGCGTTAACTTAGCAACAACCCGCCCAGAAGCCGAGAAGTAACTGAACAT 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Task1_train_22050 | Here’s a variant in IFT140 (intraflagellar transport 140) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Saldino-Mainzer syndrome | GACTGTGGGAGGTGGCAGGCCGGGGGAAGCTCTCATGAAGCAGGAAGCCGTGCTCTTCGGAAATGAAGAAGGACAGGATCAAAACATCTGCCTGGGAGAGAAAGAAAAGTACTGTTCTGTTTTTTTTTTTAACTTACATAAATTTCTGGGGTATGAGTGCCATTTTGCTACACACACTGCGTCACGGTGGGGTCGTTGCTACACACTGCGTCATGGTGGGGTCGGGTGCTTTGCTTTGATTACACCACCTTTTATCTGCTCCACTTGGGAAAAACCAACACGCCTACTGGAAGGACGCACCTCGTCCAGCTTGCGACCACTGGACTCTCCCAAGTGACTGATTTTCTTGCAGCAAAGGCTCATCATTCCCACCCTGAACTGGTGACTGCAACTCAAAAGAGCTTTCATGGTTTAAAAGTTCTCCCTCTTTGGCGGCTTTACTCTGATTTAAAAATCAACAGTAGCAGGCTGCGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTAGGCACTTGTAGTCCCAGCTACTTGGTAGTCTGAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCAGTGCACTCCAGCCTGGGTGACAGAGCAGGACTCCATCTCAAAAATAAAAGAAGAAAAAAAAATCAACAGTGGCACCACCAACAAAGAGCCCCGACCCTGCTTTCAAGGAACAGGGAACACGCAGCACAGAAACCACATGCTCTGTGGGTCCATTGCACAGAAGCAGAACAAGCAACACCAGGACATGCGCCCATACCTGCAGCTGCTCTGGACAGGAAACCAGAAGAGGTGAAGGGAAGGCAAAGCCTTTCCTTGCTACCTGGTGTGAGTTCAGACAAGGGCGCATCATCACAGAGCAGACAAAGAGCCCTAGGATCAAACTGCCAGGAGACGGCCCTACCTCCCTGCCACGTCTCCATCTTCCCCGGGTGTCAGCCCGCCCATCCTCCCAACTGCCTGGGTCACCCCCACAGCCTGTATCTTGAAGTGGCGCCTCGGGCAGTGTCTTCCCCTCCCTGCTCTGGTGGTGGAGATGCCACCTGGACGTGTCCTCCCGCTCAGCGCCTGAGAACCAAGGGTGGATTTGCTTCTGAACTCAGGGTATCAACACTGACTGCAGATAACTTTTTTTTTTTCTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGAGCAGTGGCGCGATCCCGGCTCACTCCGCCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGCGACAGAGAGAGACTCAAAAAACAAACAAAACAAACAAACAAAAGATTTCTTTCCTAGAGAGAGAATCACATGTAGCAGTTGAGACAAGAGAACCAAAAAAATGCCATTCAGGTCAGACCAGACAGTAAGTGTGGAGCTGGCCCATGGGCATAAACCTCAAAGAGGAGACACCACACACCGTGGCTTTTCTGCATAGCTCAAAACAGACCTAGCAATGGCAAATCCATAGAGGTGGCATCGAGGTTACAGTGACGCTGCCATCAGTGGGAGCTGTGAGGCAGATGCTCTACTCCACGTGAACGAATTTTCAGGACCCCTTTCCCAGACCCCATGCTAGGAAGATTTTTTTTATTAATTCTTATTATTATTCTTTTTTAGAGACGAGGGTCTCAATATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGTTCCCTCCCGCCTTGGCCTCCCACAGTGCCGGGATCACAGGCGTGAGCCACCGTGCCCAGCCCATGAAGATCTTAAGTCTGTCAAATGGCCACTGAGTGTGTCTAAACTCAAATACAACAGGCAGAGCGTACCGCAGGGCCAGCGCGCCCATCTTGGGGCTGCCCGTTTGCAGACTGAGGCTGGGAGCGCGGCGTCTCCTGCACGGCTTCGCATACAAACAGCCGGGGCTCACTCTGGTCCCAGAAGTGGTTCACGGGAACATAATTTTTCAGTCCCTCATCCACAAAGAGGTGGCTCCTAAAAGACAAAGGAAGACCCGTTTCAACCCCAGGGCGGGCACTCCTGCTACCAGTCTCCCTCCCACACACATTCCCGAAGCCTCCAGGTGCTGTCCCAGACCATGGTGTCCACGCGCTCAGCTCTGGGAGAACTTTTGGGGTCTCACTGCCATGCGCCCTACTGGAACATGTTCTCAGATTTTAACAACTGGGCTAAGGGTCCGAGCAAAGCCCAGTTTGAAAGAACCACAAAAAGATGACGCTTTGATTCTGGAGGCCTTATGGGGGCCCAGAAGAATCCCCAAAGCAAAAGGGACCCTTTTCCTTTTCCAGGACCAGCAGGCCAACCTCGAGGTGGGATGGCACCCCCTGCTGGGCGGGGTCGAGGCTTTGGCTCTGTGGTCATGCCGGGTTCCTTGTCCCCACCGGTCCCTGTGCCATGCTGCCCCTTGGACCCAGGTCCCTCCCATCTCTAAAGTTCTATGTTGGATGGGTCCAGAACTCAACAAAATGCTGTGGGGAAACACAATGATGTGCCGGCAGACGACACACAAGGTTTCAAGAGAGAGCAGGTGCCCAAGGTGAGGAGGCCTATGAGCCTCATTCGCCGCCCCCAGGGTGTCACGAACCCAGGCTGCAGAGTGGGACCCTGCCGGGCAGCACGACCCATGGCTGCTGAAGAAGGACAGGACCCGGTGCTGCAGGACATGAAGATCCCCTAGTAAGCCACTGCACCCAGCAATGGAGGTGCCCTCACAGCCACGTTCGGCACCAGTGCAGAGCAGAGCAGAAAGCAGGGCAGAGGGGCGAGTGCCATGCTCCAGACAAGGCGGCTCTGAGGCCCAGAGAGCCCGGGGACACAAGCTGGTTCCCGTGAGGTGAGACCGGCCTGGTACGGGACGGGAACGGACAGAAGGCAGGGGGCAAGATTCGAATGCAGAAAGGAACTCAGAGGCTCCCACAGCTCCCAGGGGAAGCCACACACGGCAGGCGCAGAGTCGAGAGGGAAAAGCATGAATGAAAAGACATTTTGGTATGAGAAACGCTGCGGACCTGGGTGACGGGCAGTGGGGACTAGAGGAAGGGTTCGAGGAGCGGCCCAAGAACAGTGGCAGCAGGGGGAGAGCTGGCACTTGGCCAAGTCAGGCATCATTGTCTGAGGTGGGAGAATGGGGCCTGCACTCGGTGAGCTGTGAAGATGGAGAGTTCCACAGGAAGTCACTGGCAGAGGGATGAAATGAGGCCACCAGGTGAAAGAAGGTTCCAGCACTGGATCTGAGGCGGAAGGTGTGTGGGAGAGGCAGGGGGAATCCAGGGGGGCTGGACAGAAGGGGTGTGTCTGATGGTGGTCAAGTAATGGAGGAGGGAAAAAAAAAGAGAGAAAACCACCCCCGAGCCCAGCCTTGTAACTGCTCTGCTCCTCTGTGAGCATATGCAGGCCCCAGGGTGCCCGTCCTGCTTTCCTGCCCTGCAGGCCTGGCTCACGCAGGCTGGGCGGGCTCAGCTCCGTGGCCCACTTTGCTTTTGTGCTTCACTTTGTGCAGAATCAGCCATGAACTGTGAGTGAACTATCATCAGCACTCAAAGTTCTCCAAATGCCCATTCAGTCACAGAAGGAACTCCAGATATAGTGAAGACAGACGATTGTTCTCCCCAGAAGTACATTCTTTAAACAGGCAAATGCCCCCCTACATGAGAGACGCGGATGGGTCTGAGGTCACCACATTTCTCTCCCTGCAGTGACTCATGGGCCACTTCTACAGATTCCCGGCCAGAACCCTTCCAGAAGTTCCAGTTTCCACTCAGCTAACTCCAGAACCTTCCACCTGAAGGACAGAGACTAAGAACTCCAATCTACCCACTGCCAGAGTGTGCTTCTGTTTTCCTCTTTCTTTTTCCTACTGGTGCCTGCTGGGGCCTTTTGAAGGCGCGTTAACTTAGCAACAACCCGCCCAGAAGCCGAGAAGTAACTGAACAT 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GACTGTGGGAGGTGGCAGGCCGGGGGAAGCTCTCATGAAGCAGGAAGCCGTGCTCTTCGGAAATGAAGAAGGACAGGATCAAAACATCTGCCTGGGAGAGAAAGAAAAGTACTGTTCTGTTTTTTTTTTTAACTTACATAAATTTCTGGGGTATGAGTGCCATTTTGCTACACACACTGCGTCACGGTGGGGTCGTTGCTACACACTGCGTCATGGTGGGGTCGGGTGCTTTGCTTTGATTACACCACCTTTTATCTGCTCCACTTGGGAAAAACCAACACGCCTACTGGAAGGACGCACCTCGTCCAGCTTGCGACCACTGGACTCTCCCAAGTGACTGATTTTCTTGCAGCAAAGGCTCATCATTCCCACCCTGAACTGGTGACTGCAACTCAAAAGAGCTTTCATGGTTTAAAAGTTCTCCCTCTTTGGCGGCTTTACTCTGATTTAAAAATCAACAGTAGCAGGCTGCGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTAGGCACTTGTAGTCCCAGCTACTTGGTAGTCTGAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCAGTGCACTCCAGCCTGGGTGACAGAGCAGGACTCCATCTCAAAAATAAAAGAAGAAAAAAAAATCAACAGTGGCACCACCAACAAAGAGCCCCGACCCTGCTTTCAAGGAACAGGGAACACGCAGCACAGAAACCACATGCTCTGTGGGTCCATTGCACAGAAGCAGAACAAGCAACACCAGGACATGCGCCCATACCTGCAGCTGCTCTGGACAGGAAACCAGAAGAGGTGAAGGGAAGGCAAAGCCTTTCCTTGCTACCTGGTGTGAGTTCAGACAAGGGCGCATCATCACAGAGCAGACAAAGAGCCCTAGGATCAAACTGCCAGGAGACGGCCCTACCTCCCTGCCACGTCTCCATCTTCCCCGGGTGTCAGCCCGCCCATCCTCCCAACTGCCTGGGTCACCCCCACAGCCTGTATCTTGAAGTGGCGCCTCGGGCAGTGTCTTCCCCTCCCTGCTCTGGTGGTGGAGATGCCACCTGGACGTGTCCTCCCGCTCAGCGCCTGAGAACCAAGGGTGGATTTGCTTCTGAACTCAGGGTATCAACACTGACTGCAGATAACTTTTTTTTTTTCTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGAGCAGTGGCGCGATCCCGGCTCACTCCGCCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGCGACAGAGAGAGACTCAAAAAACAAACAAAACAAACAAACAAAAGATTTCTTTCCTAGAGAGAGAATCACATGTAGCAGTTGAGACAAGAGAACCAAAAAAATGCCATTCAGGTCAGACCAGACAGTAAGTGTGGAGCTGGCCCATGGGCATAAACCTCAAAGAGGAGACACCACACACCGTGGCTTTTCTGCATAGCTCAAAACAGACCTAGCAATGGCAAATCCATAGAGGTGGCATCGAGGTTACAGTGACGCTGCCATCAGTGGGAGCTGTGAGGCAGATGCTCTACTCCACGTGAACGAATTTTCAGGACCCCTTTCCCAGACCCCATGCTAGGAAGATTTTTTTTATTAATTCTTATTATTATTCTTTTTTAGAGACGAGGGTCTCAATATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGTTCCCTCCCGCCTTGGCCTCCCACAGTGCCGGGATCACAGGCGTGAGCCACCGTGCCCAGCCCATGAAGATCTTAAGTCTGTCAAATGGCCACTGAGTGTGTCTAAACTCAAATACAACAGGCAGAGCGTACCGCAGGGCCAGCGCGCCCATCTTGGGGCTGCCCGTTTGCAGACTGAGGCTGGGAGCGCGGCGTCTCCTGCACGGCTTTGCATACAAACAGCCGGGGCTCACTCTGGTCCCAGAAGTGGTTCACGGGAACATAATTTTTCAGTCCCTCATCCACAAAGAGGTGGCTCCTAAAAGACAAAGGAAGACCCGTTTCAACCCCAGGGCGGGCACTCCTGCTACCAGTCTCCCTCCCACACACATTCCCGAAGCCTCCAGGTGCTGTCCCAGACCATGGTGTCCACGCGCTCAGCTCTGGGAGAACTTTTGGGGTCTCACTGCCATGCGCCCTACTGGAACATGTTCTCAGATTTTAACAACTGGGCTAAGGGTCCGAGCAAAGCCCAGTTTGAAAGAACCACAAAAAGATGACGCTTTGATTCTGGAGGCCTTATGGGGGCCCAGAAGAATCCCCAAAGCAAAAGGGACCCTTTTCCTTTTCCAGGACCAGCAGGCCAACCTCGAGGTGGGATGGCACCCCCTGCTGGGCGGGGTCGAGGCTTTGGCTCTGTGGTCATGCCGGGTTCCTTGTCCCCACCGGTCCCTGTGCCATGCTGCCCCTTGGACCCAGGTCCCTCCCATCTCTAAAGTTCTATGTTGGATGGGTCCAGAACTCAACAAAATGCTGTGGGGAAACACAATGATGTGCCGGCAGACGACACACAAGGTTTCAAGAGAGAGCAGGTGCCCAAGGTGAGGAGGCCTATGAGCCTCATTCGCCGCCCCCAGGGTGTCACGAACCCAGGCTGCAGAGTGGGACCCTGCCGGGCAGCACGACCCATGGCTGCTGAAGAAGGACAGGACCCGGTGCTGCAGGACATGAAGATCCCCTAGTAAGCCACTGCACCCAGCAATGGAGGTGCCCTCACAGCCACGTTCGGCACCAGTGCAGAGCAGAGCAGAAAGCAGGGCAGAGGGGCGAGTGCCATGCTCCAGACAAGGCGGCTCTGAGGCCCAGAGAGCCCGGGGACACAAGCTGGTTCCCGTGAGGTGAGACCGGCCTGGTACGGGACGGGAACGGACAGAAGGCAGGGGGCAAGATTCGAATGCAGAAAGGAACTCAGAGGCTCCCACAGCTCCCAGGGGAAGCCACACACGGCAGGCGCAGAGTCGAGAGGGAAAAGCATGAATGAAAAGACATTTTGGTATGAGAAACGCTGCGGACCTGGGTGACGGGCAGTGGGGACTAGAGGAAGGGTTCGAGGAGCGGCCCAAGAACAGTGGCAGCAGGGGGAGAGCTGGCACTTGGCCAAGTCAGGCATCATTGTCTGAGGTGGGAGAATGGGGCCTGCACTCGGTGAGCTGTGAAGATGGAGAGTTCCACAGGAAGTCACTGGCAGAGGGATGAAATGAGGCCACCAGGTGAAAGAAGGTTCCAGCACTGGATCTGAGGCGGAAGGTGTGTGGGAGAGGCAGGGGGAATCCAGGGGGGCTGGACAGAAGGGGTGTGTCTGATGGTGGTCAAGTAATGGAGGAGGGAAAAAAAAAGAGAGAAAACCACCCCCGAGCCCAGCCTTGTAACTGCTCTGCTCCTCTGTGAGCATATGCAGGCCCCAGGGTGCCCGTCCTGCTTTCCTGCCCTGCAGGCCTGGCTCACGCAGGCTGGGCGGGCTCAGCTCCGTGGCCCACTTTGCTTTTGTGCTTCACTTTGTGCAGAATCAGCCATGAACTGTGAGTGAACTATCATCAGCACTCAAAGTTCTCCAAATGCCCATTCAGTCACAGAAGGAACTCCAGATATAGTGAAGACAGACGATTGTTCTCCCCAGAAGTACATTCTTTAAACAGGCAAATGCCCCCCTACATGAGAGACGCGGATGGGTCTGAGGTCACCACATTTCTCTCCCTGCAGTGACTCATGGGCCACTTCTACAGATTCCCGGCCAGAACCCTTCCAGAAGTTCCAGTTTCCACTCAGCTAACTCCAGAACCTTCCACCTGAAGGACAGAGACTAAGAACTCCAATCTACCCACTGCCAGAGTGTGCTTCTGTTTTCCTCTTTCTTTTTCCTACTGGTGCCTGCTGGGGCCTTTTGAAGGCGCGTTAACTTAGCAACAACCCGCCCAGAAGCCGAGAAGTAACTGAACAT 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Task1_train_22051 | The gene IFT140 (intraflagellar transport 140) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Saldino-Mainzer syndrome | GACTGTGGGAGGTGGCAGGCCGGGGGAAGCTCTCATGAAGCAGGAAGCCGTGCTCTTCGGAAATGAAGAAGGACAGGATCAAAACATCTGCCTGGGAGAGAAAGAAAAGTACTGTTCTGTTTTTTTTTTTAACTTACATAAATTTCTGGGGTATGAGTGCCATTTTGCTACACACACTGCGTCACGGTGGGGTCGTTGCTACACACTGCGTCATGGTGGGGTCGGGTGCTTTGCTTTGATTACACCACCTTTTATCTGCTCCACTTGGGAAAAACCAACACGCCTACTGGAAGGACGCACCTCGTCCAGCTTGCGACCACTGGACTCTCCCAAGTGACTGATTTTCTTGCAGCAAAGGCTCATCATTCCCACCCTGAACTGGTGACTGCAACTCAAAAGAGCTTTCATGGTTTAAAAGTTCTCCCTCTTTGGCGGCTTTACTCTGATTTAAAAATCAACAGTAGCAGGCTGCGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTAGGCACTTGTAGTCCCAGCTACTTGGTAGTCTGAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCAGTGCACTCCAGCCTGGGTGACAGAGCAGGACTCCATCTCAAAAATAAAAGAAGAAAAAAAAATCAACAGTGGCACCACCAACAAAGAGCCCCGACCCTGCTTTCAAGGAACAGGGAACACGCAGCACAGAAACCACATGCTCTGTGGGTCCATTGCACAGAAGCAGAACAAGCAACACCAGGACATGCGCCCATACCTGCAGCTGCTCTGGACAGGAAACCAGAAGAGGTGAAGGGAAGGCAAAGCCTTTCCTTGCTACCTGGTGTGAGTTCAGACAAGGGCGCATCATCACAGAGCAGACAAAGAGCCCTAGGATCAAACTGCCAGGAGACGGCCCTACCTCCCTGCCACGTCTCCATCTTCCCCGGGTGTCAGCCCGCCCATCCTCCCAACTGCCTGGGTCACCCCCACAGCCTGTATCTTGAAGTGGCGCCTCGGGCAGTGTCTTCCCCTCCCTGCTCTGGTGGTGGAGATGCCACCTGGACGTGTCCTCCCGCTCAGCGCCTGAGAACCAAGGGTGGATTTGCTTCTGAACTCAGGGTATCAACACTGACTGCAGATAACTTTTTTTTTTTCTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGAGCAGTGGCGCGATCCCGGCTCACTCCGCCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGCGACAGAGAGAGACTCAAAAAACAAACAAAACAAACAAACAAAAGATTTCTTTCCTAGAGAGAGAATCACATGTAGCAGTTGAGACAAGAGAACCAAAAAAATGCCATTCAGGTCAGACCAGACAGTAAGTGTGGAGCTGGCCCATGGGCATAAACCTCAAAGAGGAGACACCACACACCGTGGCTTTTCTGCATAGCTCAAAACAGACCTAGCAATGGCAAATCCATAGAGGTGGCATCGAGGTTACAGTGACGCTGCCATCAGTGGGAGCTGTGAGGCAGATGCTCTACTCCACGTGAACGAATTTTCAGGACCCCTTTCCCAGACCCCATGCTAGGAAGATTTTTTTTATTAATTCTTATTATTATTCTTTTTTAGAGACGAGGGTCTCAATATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGTTCCCTCCCGCCTTGGCCTCCCACAGTGCCGGGATCACAGGCGTGAGCCACCGTGCCCAGCCCATGAAGATCTTAAGTCTGTCAAATGGCCACTGAGTGTGTCTAAACTCAAATACAACAGGCAGAGCGTACCGCAGGGCCAGCGCGCCCATCTTGGGGCTGCCCGTTTGCAGACTGAGGCTGGGAGCGCGGCGTCTCCTGCACGGCTTCGCATACAAACAGCCGGGGCTCACTCTGGTCCCAGAAGTGGTTCACGGGAACATAATTTTTCAGTCCCTCATCCACAAAGAGGTGGCTCCTAAAAGACAAAGGAAGACCCGTTTCAACCCCAGGGCGGGCACTCCTGCTACCAGTCTCCCTCCCACACACATTCCCGAAGCCTCCAGGTGCTGTCCCAGACCATGGTGTCCACGCGCTCAGCTCTGGGAGAACTTTTGGGGTCTCACTGCCATGCGCCCTACTGGAACATGTTCTCAGATTTTAACAACTGGGCTAAGGGTCCGAGCAAAGCCCAGTTTGAAAGAACCACAAAAAGATGACGCTTTGATTCTGGAGGCCTTATGGGGGCCCAGAAGAATCCCCAAAGCAAAAGGGACCCTTTTCCTTTTCCAGGACCAGCAGGCCAACCTCGAGGTGGGATGGCACCCCCTGCTGGGCGGGGTCGAGGCTTTGGCTCTGTGGTCATGCCGGGTTCCTTGTCCCCACCGGTCCCTGTGCCATGCTGCCCCTTGGACCCAGGTCCCTCCCATCTCTAAAGTTCTATGTTGGATGGGTCCAGAACTCAACAAAATGCTGTGGGGAAACACAATGATGTGCCGGCAGACGACACACAAGGTTTCAAGAGAGAGCAGGTGCCCAAGGTGAGGAGGCCTATGAGCCTCATTCGCCGCCCCCAGGGTGTCACGAACCCAGGCTGCAGAGTGGGACCCTGCCGGGCAGCACGACCCATGGCTGCTGAAGAAGGACAGGACCCGGTGCTGCAGGACATGAAGATCCCCTAGTAAGCCACTGCACCCAGCAATGGAGGTGCCCTCACAGCCACGTTCGGCACCAGTGCAGAGCAGAGCAGAAAGCAGGGCAGAGGGGCGAGTGCCATGCTCCAGACAAGGCGGCTCTGAGGCCCAGAGAGCCCGGGGACACAAGCTGGTTCCCGTGAGGTGAGACCGGCCTGGTACGGGACGGGAACGGACAGAAGGCAGGGGGCAAGATTCGAATGCAGAAAGGAACTCAGAGGCTCCCACAGCTCCCAGGGGAAGCCACACACGGCAGGCGCAGAGTCGAGAGGGAAAAGCATGAATGAAAAGACATTTTGGTATGAGAAACGCTGCGGACCTGGGTGACGGGCAGTGGGGACTAGAGGAAGGGTTCGAGGAGCGGCCCAAGAACAGTGGCAGCAGGGGGAGAGCTGGCACTTGGCCAAGTCAGGCATCATTGTCTGAGGTGGGAGAATGGGGCCTGCACTCGGTGAGCTGTGAAGATGGAGAGTTCCACAGGAAGTCACTGGCAGAGGGATGAAATGAGGCCACCAGGTGAAAGAAGGTTCCAGCACTGGATCTGAGGCGGAAGGTGTGTGGGAGAGGCAGGGGGAATCCAGGGGGGCTGGACAGAAGGGGTGTGTCTGATGGTGGTCAAGTAATGGAGGAGGGAAAAAAAAAGAGAGAAAACCACCCCCGAGCCCAGCCTTGTAACTGCTCTGCTCCTCTGTGAGCATATGCAGGCCCCAGGGTGCCCGTCCTGCTTTCCTGCCCTGCAGGCCTGGCTCACGCAGGCTGGGCGGGCTCAGCTCCGTGGCCCACTTTGCTTTTGTGCTTCACTTTGTGCAGAATCAGCCATGAACTGTGAGTGAACTATCATCAGCACTCAAAGTTCTCCAAATGCCCATTCAGTCACAGAAGGAACTCCAGATATAGTGAAGACAGACGATTGTTCTCCCCAGAAGTACATTCTTTAAACAGGCAAATGCCCCCCTACATGAGAGACGCGGATGGGTCTGAGGTCACCACATTTCTCTCCCTGCAGTGACTCATGGGCCACTTCTACAGATTCCCGGCCAGAACCCTTCCAGAAGTTCCAGTTTCCACTCAGCTAACTCCAGAACCTTCCACCTGAAGGACAGAGACTAAGAACTCCAATCTACCCACTGCCAGAGTGTGCTTCTGTTTTCCTCTTTCTTTTTCCTACTGGTGCCTGCTGGGGCCTTTTGAAGGCGCGTTAACTTAGCAACAACCCGCCCAGAAGCCGAGAAGTAACTGAACAT 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GACTGTGGGAGGTGGCAGGCCGGGGGAAGCTCTCATGAAGCAGGAAGCCGTGCTCTTCGGAAATGAAGAAGGACAGGATCAAAACATCTGCCTGGGAGAGAAAGAAAAGTACTGTTCTGTTTTTTTTTTTAACTTACATAAATTTCTGGGGTATGAGTGCCATTTTGCTACACACACTGCGTCACGGTGGGGTCGTTGCTACACACTGCGTCATGGTGGGGTCGGGTGCTTTGCTTTGATTACACCACCTTTTATCTGCTCCACTTGGGAAAAACCAACACGCCTACTGGAAGGACGCACCTCGTCCAGCTTGCGACCACTGGACTCTCCCAAGTGACTGATTTTCTTGCAGCAAAGGCTCATCATTCCCACCCTGAACTGGTGACTGCAACTCAAAAGAGCTTTCATGGTTTAAAAGTTCTCCCTCTTTGGCGGCTTTACTCTGATTTAAAAATCAACAGTAGCAGGCTGCGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTAGGCACTTGTAGTCCCAGCTACTTGGTAGTCTGAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCAGTGCACTCCAGCCTGGGTGACAGAGCAGGACTCCATCTCAAAAATAAAAGAAGAAAAAAAAATCAACAGTGGCACCACCAACAAAGAGCCCCGACCCTGCTTTCAAGGAACAGGGAACACGCAGCACAGAAACCACATGCTCTGTGGGTCCATTGCACAGAAGCAGAACAAGCAACACCAGGACATGCGCCCATACCTGCAGCTGCTCTGGACAGGAAACCAGAAGAGGTGAAGGGAAGGCAAAGCCTTTCCTTGCTACCTGGTGTGAGTTCAGACAAGGGCGCATCATCACAGAGCAGACAAAGAGCCCTAGGATCAAACTGCCAGGAGACGGCCCTACCTCCCTGCCACGTCTCCATCTTCCCCGGGTGTCAGCCCGCCCATCCTCCCAACTGCCTGGGTCACCCCCACAGCCTGTATCTTGAAGTGGCGCCTCGGGCAGTGTCTTCCCCTCCCTGCTCTGGTGGTGGAGATGCCACCTGGACGTGTCCTCCCGCTCAGCGCCTGAGAACCAAGGGTGGATTTGCTTCTGAACTCAGGGTATCAACACTGACTGCAGATAACTTTTTTTTTTTCTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGAGCAGTGGCGCGATCCCGGCTCACTCCGCCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGCGACAGAGAGAGACTCAAAAAACAAACAAAACAAACAAACAAAAGATTTCTTTCCTAGAGAGAGAATCACATGTAGCAGTTGAGACAAGAGAACCAAAAAAATGCCATTCAGGTCAGACCAGACAGTAAGTGTGGAGCTGGCCCATGGGCATAAACCTCAAAGAGGAGACACCACACACCGTGGCTTTTCTGCATAGCTCAAAACAGACCTAGCAATGGCAAATCCATAGAGGTGGCATCGAGGTTACAGTGACGCTGCCATCAGTGGGAGCTGTGAGGCAGATGCTCTACTCCACGTGAACGAATTTTCAGGACCCCTTTCCCAGACCCCATGCTAGGAAGATTTTTTTTATTAATTCTTATTATTATTCTTTTTTAGAGACGAGGGTCTCAATATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGTTCCCTCCCGCCTTGGCCTCCCACAGTGCCGGGATCACAGGCGTGAGCCACCGTGCCCAGCCCATGAAGATCTTAAGTCTGTCAAATGGCCACTGAGTGTGTCTAAACTCAAATACAACAGGCAGAGCGTACCGCAGGGCCAGCGCGCCCATCTTGGGGCTGCCCGTTTGCAGACTGAGGCTGGGAGCGCGGCGTCTCCTGCACGGCTTTGCATACAAACAGCCGGGGCTCACTCTGGTCCCAGAAGTGGTTCACGGGAACATAATTTTTCAGTCCCTCATCCACAAAGAGGTGGCTCCTAAAAGACAAAGGAAGACCCGTTTCAACCCCAGGGCGGGCACTCCTGCTACCAGTCTCCCTCCCACACACATTCCCGAAGCCTCCAGGTGCTGTCCCAGACCATGGTGTCCACGCGCTCAGCTCTGGGAGAACTTTTGGGGTCTCACTGCCATGCGCCCTACTGGAACATGTTCTCAGATTTTAACAACTGGGCTAAGGGTCCGAGCAAAGCCCAGTTTGAAAGAACCACAAAAAGATGACGCTTTGATTCTGGAGGCCTTATGGGGGCCCAGAAGAATCCCCAAAGCAAAAGGGACCCTTTTCCTTTTCCAGGACCAGCAGGCCAACCTCGAGGTGGGATGGCACCCCCTGCTGGGCGGGGTCGAGGCTTTGGCTCTGTGGTCATGCCGGGTTCCTTGTCCCCACCGGTCCCTGTGCCATGCTGCCCCTTGGACCCAGGTCCCTCCCATCTCTAAAGTTCTATGTTGGATGGGTCCAGAACTCAACAAAATGCTGTGGGGAAACACAATGATGTGCCGGCAGACGACACACAAGGTTTCAAGAGAGAGCAGGTGCCCAAGGTGAGGAGGCCTATGAGCCTCATTCGCCGCCCCCAGGGTGTCACGAACCCAGGCTGCAGAGTGGGACCCTGCCGGGCAGCACGACCCATGGCTGCTGAAGAAGGACAGGACCCGGTGCTGCAGGACATGAAGATCCCCTAGTAAGCCACTGCACCCAGCAATGGAGGTGCCCTCACAGCCACGTTCGGCACCAGTGCAGAGCAGAGCAGAAAGCAGGGCAGAGGGGCGAGTGCCATGCTCCAGACAAGGCGGCTCTGAGGCCCAGAGAGCCCGGGGACACAAGCTGGTTCCCGTGAGGTGAGACCGGCCTGGTACGGGACGGGAACGGACAGAAGGCAGGGGGCAAGATTCGAATGCAGAAAGGAACTCAGAGGCTCCCACAGCTCCCAGGGGAAGCCACACACGGCAGGCGCAGAGTCGAGAGGGAAAAGCATGAATGAAAAGACATTTTGGTATGAGAAACGCTGCGGACCTGGGTGACGGGCAGTGGGGACTAGAGGAAGGGTTCGAGGAGCGGCCCAAGAACAGTGGCAGCAGGGGGAGAGCTGGCACTTGGCCAAGTCAGGCATCATTGTCTGAGGTGGGAGAATGGGGCCTGCACTCGGTGAGCTGTGAAGATGGAGAGTTCCACAGGAAGTCACTGGCAGAGGGATGAAATGAGGCCACCAGGTGAAAGAAGGTTCCAGCACTGGATCTGAGGCGGAAGGTGTGTGGGAGAGGCAGGGGGAATCCAGGGGGGCTGGACAGAAGGGGTGTGTCTGATGGTGGTCAAGTAATGGAGGAGGGAAAAAAAAAGAGAGAAAACCACCCCCGAGCCCAGCCTTGTAACTGCTCTGCTCCTCTGTGAGCATATGCAGGCCCCAGGGTGCCCGTCCTGCTTTCCTGCCCTGCAGGCCTGGCTCACGCAGGCTGGGCGGGCTCAGCTCCGTGGCCCACTTTGCTTTTGTGCTTCACTTTGTGCAGAATCAGCCATGAACTGTGAGTGAACTATCATCAGCACTCAAAGTTCTCCAAATGCCCATTCAGTCACAGAAGGAACTCCAGATATAGTGAAGACAGACGATTGTTCTCCCCAGAAGTACATTCTTTAAACAGGCAAATGCCCCCCTACATGAGAGACGCGGATGGGTCTGAGGTCACCACATTTCTCTCCCTGCAGTGACTCATGGGCCACTTCTACAGATTCCCGGCCAGAACCCTTCCAGAAGTTCCAGTTTCCACTCAGCTAACTCCAGAACCTTCCACCTGAAGGACAGAGACTAAGAACTCCAATCTACCCACTGCCAGAGTGTGCTTCTGTTTTCCTCTTTCTTTTTCCTACTGGTGCCTGCTGGGGCCTTTTGAAGGCGCGTTAACTTAGCAACAACCCGCCCAGAAGCCGAGAAGTAACTGAACAT 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Task1_train_22052 | With a mutation on Chromosome 16 in gene IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Saldino-Mainzer syndrome | GAAGATGGTAAGGTCTTGGGATGGGGAGATTATACTGAGTTATCCAGGTAGGCCCTAAATACACTCACGAGTGTCCCTGTAAGAGGGAGGGAGGCAGATTTCAGACCAGGGGCAATGTGACCAGAGAGACAGAGACTGGAGGTTTGTGACCACAAGCCAAAGACTGCTGGCAGCCACCAGAAGCTGAAACGGGTTCTCCCCTGGGGCTGCAGAGGAAGCGTGGCCCTGCTGACGCGATCACTTCTGTCCAGTGAAAAGTGAAACTGATTTGGGACCTCTGGCCTCCAGAACTATGGGAGAATACATTTCCCACATCTTTGTCTGAAGCCACCAAGTTTGTGGTCCTTTGCTACAGCTGCCTCAGGAAACTCCCATAGATGTGCTGAAGAGAGCAGGAAGAAAACAATGGCCAAGGCCGGGCGCGGAGGCGCACGCCTGTAATCACACCACTTTGGGAGGCCGAGGCAGGCAAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAATATAAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGCTACTGGGGAGACTGAGGCAGGACAACTGCTTGAGCCCGGGAGGCGGAGGGTGCAGTGAGGTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAATGGCAAAACTAACCGCAGAGAGCTGGAGAGATCTTGGGGACCTAGAAGGGTGTTTGAGATTAACGGAGCATGTCTGAGGAGCCACCTTGAAGTTTCAGACAGAGGCTGGCCTTGGGTCAAGACACCACAGGTCTCACTGCTGTGCATGGTCTGGAAACATTTCAGAAGATGGGAGGCAGCCACCTCCTCCCTGGAAGGAACCCCACAAAAGCACGGTGGTTGTTTACGCCCACACAGCAGGCCCCAGGATGCACTGGCAGCACGGGGCCACAGCTGCAGCCCTGGCTCTGGAAGCGCAGGCAGTAGCACAAGGGTCTCCCCAGCCCCTGTGCCAGCCCTCAACTGCACCACAGTGGCCCTCTCATTAGGCAGGGAGGAAATAAAGCCAGGTAGTGGGAGTGCCTCTGTCCGGGTGAAAAGAACCCACCTGCACTCCGTATCGCGGCTCCAGAAAGCTCGAAGATCGCCACCTGCCTTCCGTTCCAGACTGCGACAGCATCCTGAAAAGAACCACGGACATTCGAGGCAAAGGGCGGGAAAAGTGAGGTGCAACTGTACACCCCACTGCACACCTCGAAAGCCTCCTCTAAACACTTCTGAACACTGCTGCTCCATCATCCTACGACTATGAGATCACTGGGTCCTCTGTGGACAGGCTGAGGCTGTTTTCCGTGTTATATAAGATATCCATGGGTTTTATTATGATTCTTTTCTGTTTTTTTTTTTCTTTTTTTTTTAGGTTTGGGGAATGGCAAAGAAAGTATCCCTCTCTTTCCTTTATTTACTTTTTAAATTTATTGTTTAACTGACATTTTTTTTAATTTATAAGGGTACATGGCAGGTGTATATATTTTTTATTATTATGTTCTTTTTTTTGAGACATGGTCTCACTCTGTCGTCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACAGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATACACCCCGACGCCTGGCTAATTTTTGTATTTTGGAGTTTTAGCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGCGCTGGGATTACAGGCGTCAGCCACCGTGCCTGGCCTATATTCTTATTACGATTTTCTTTATGAATATAATGTACATGGATATCCAGGAAATAAGAGAATCTAGGATGGAACTGAGAGTGGCCTAACCTGCCATCTGGGGCCCTTGCTGCCCTGAACTACCTGGCCATGGGGCAGTTCTTCTGTCTGTGTCCCACCCACGGGTCCCCTCGGCAGTCACCTTGGTGGCAAACACTCCACTGATGTGCATGTCGGTGCGCAGGCTGTGTGCGACCCCCGTGGACAGGAAGCACACATTCAGCAGACTCGGGGAGACCTGCATGGCGGCCACTTGCTGGTGGAAGTGTGACGACATGGCCCGCTCGCTGAGGATGGCCACGGAGATGACGCTGTTCACTGCCAGCAGGTTCTTCCTGGAACCCCACTTCATTTCCAGGTTGCAAGAGAAAGAACCAGATGTGTGAACAGAGCAGGAGAAAGATGCGGTCAGGAGAATACTTACACACACGAGAACTCAGAAACCATTTCCAAGTACCATTGTTCCGGACTTAAAAAATGATCTTATAAGACATTATAAGAAAAGTCTTATAAAGGTAAAGAGTATGCTGTGTAGAAAGACTTCAAGATACTGATGCTCAAGGGTTGTGATTGGACAGGCAGCACTGGTATGTCTGTTCTGATGGGAAGAGCGTTTTCTAGAGTTTTTCTGAGTGGGACACACTTTTCTGAGTGTGACATAGGGATGTTTATGTTTTTTATAAACAGACAGGAAGTTTACATAATGGATTAAATTATCCAGCTTTCTTCTGCTGATGTGAAATGTTGGTTTCATAATTTTATATTAAACTTCTAAATCTATCTAAAAATAAATAAAGACCTATGCAAAATAGGAAAGTATAAATTCCATATAGGAAAAAACCCAGACATCAGAAACTGCTCTGAAAGGGCTCAGATGTTGGACTTAGCAAAGACTTCAAAGCAGCCACTGGAAACGTGGTGAAGGAGCTGAAGGAAACCAGCCTGGTGAAGTGAAGGAAGCTACAACGACAGTGTCTCATCAGGTAGAGAACAGGAACAGAGAGAAATCATAAGAAAGAACCAAATGCTGCAGAGAAATTAAAACATCCTCACACAAAAACGTGTACACAAGTGTTCGTAACAGCATTATTCAAATGTCCATCAACTGATGAATGGAGAAAGAAAACGTGGTCTGTTCACAGCAGAGAATGTGATTCAGCCATGAAAAGGAGCAAAGCATTGACACAGGCTACAATCTGGAGGGGCCTTGAAACCTCAGCTCAGTGGGAGCAGCCGGGCACAAAAGACCAGGTGTTGTGTGATTCCATTTCCATGAAACATCCAGAATGGGCAAATCCTTAGAGAGAGGAGGTAGATTAGTGGCTGCCAAGGGCTGGAGAGGGGAAAATAAGAGCGACCACTAAAAGGTACAGATTTTTTGTGGCGCTGAAACTGTTCTAGAATTCACTGCAGTGATGTTTGTAAAATTGTGAATATACCAAAAACCACTTTGTATATATCATGAGTTATATCTCAGTAAAGCTCTTTTTCATACAGATAGAGAGAGATGGAGAGGGAGGGATGGGTTCGTGGGTAGATACATATTATAACTAATACAGGTCCACAATCTCTTATCTGCAATTCTGAAATCCAAAAGGTCTTTTAAAATGTCTTATTATTGTTATTTTCACATAGTCTTAAGTTGAATAACTGATAAAAATAGGTTCAGAGTCATTTATGGCCTCCACTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCAGCTCCTGGGTTCACGACATTCTCCTGCCGCAGCCTCCTGAGTAGCTGAGGCTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAAC | GAAGATGGTAAGGTCTTGGGATGGGGAGATTATACTGAGTTATCCAGGTAGGCCCTAAATACACTCACGAGTGTCCCTGTAAGAGGGAGGGAGGCAGATTTCAGACCAGGGGCAATGTGACCAGAGAGACAGAGACTGGAGGTTTGTGACCACAAGCCAAAGACTGCTGGCAGCCACCAGAAGCTGAAACGGGTTCTCCCCTGGGGCTGCAGAGGAAGCGTGGCCCTGCTGACGCGATCACTTCTGTCCAGTGAAAAGTGAAACTGATTTGGGACCTCTGGCCTCCAGAACTATGGGAGAATACATTTCCCACATCTTTGTCTGAAGCCACCAAGTTTGTGGTCCTTTGCTACAGCTGCCTCAGGAAACTCCCATAGATGTGCTGAAGAGAGCAGGAAGAAAACAATGGCCAAGGCCGGGCGCGGAGGCGCACGCCTGTAATCACACCACTTTGGGAGGCCGAGGCAGGCAAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAATATAAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGCTACTGGGGAGACTGAGGCAGGACAACTGCTTGAGCCCGGGAGGCGGAGGGTGCAGTGAGGTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAATGGCAAAACTAACCGCAGAGAGCTGGAGAGATCTTGGGGACCTAGAAGGGTGTTTGAGATTAACGGAGCATGTCTGAGGAGCCACCTTGAAGTTTCAGACAGAGGCTGGCCTTGGGTCAAGACACCACAGGTCTCACTGCTGTGCATGGTCTGGAAACATTTCAGAAGATGGGAGGCAGCCACCTCCTCCCTGGAAGGAACCCCACAAAAGCACGGTGGTTGTTTACGCCCACACAGCAGGCCCCAGGATGCACTGGCAGCACGGGGCCACAGCTGCAGCCCTGGCTCTGGAAGCGCAGGCAGTAGCACAAGGGTCTCCCCAGCCCCTGTGCCAGCCCTCAACTGCACCACAGTGGCCCTCTCATTAGGCAGGGAGGAAATAAAGCCAGGTAGTGGGAGTGCCTCTGTCCGGGTGAAAAGAACCCACCTGCACTCCGTATCGCGGCTCCAGAAAGCTCGAAGATCGCCACCTGCCTTCCGTTCCAGACTGCGACAGCATCCTGAAAAGAACCACGGACATTCGAGGCAAAGGGCGGGAAAAGTGAGGTGCAACTGTACACCCCACTGCACACCTCGAAAGCCTCCTCTAAACACTTCTGAACACTGCTGCTCCATCATCCTACGACTATGAGATCACTGGGTCCTCTGTGGACAGGCTGAGGCTGTTTTCCGTGTTATATAAGATATCCATGGGTTTTATTATGATTCTTTTCTGTTTTTTTTTTTCTTTTTTTTTTAGGTTTGGGGAATGGCAAAGAAAGTATCCCTCTCTTTCCTTTATTTACTTTTTAAATTTATTGTTTAACTGACATTTTTTTTAATTTATAAGGGTACATGGCAGGTGTATATATTTTTTATTATTATGTTCTTTTTTTTGAGACATGGTCTCACTCTGTCGTCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACAGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATACACCCCGACGCCTGGCTAATTTTTGTATTTTGGAGTTTTAGCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGCGCTGGGATTACAGGCGTCAGCCACCGTGCCTGGCCTATATTCTTATTACGATTTTCTTTATGAATATAATGTACATGGATATCCAGGAAATAAGAGAATCTAGGATGGAACTGAGAGTGGCCTAACCTGCCATCTGGGGCCCTTGCTGCCCTGAACTACCTGGCCATGGGGCAGTTCTTCTGTCTGTGTCCCACCCACGGGTCCCCTCGGCAGTCACCTTGGTGGCAAACACTCCACTGATGTGCATGTCGGTGCGCGGGCTGTGTGCGACCCCCGTGGACAGGAAGCACACATTCAGCAGACTCGGGGAGACCTGCATGGCGGCCACTTGCTGGTGGAAGTGTGACGACATGGCCCGCTCGCTGAGGATGGCCACGGAGATGACGCTGTTCACTGCCAGCAGGTTCTTCCTGGAACCCCACTTCATTTCCAGGTTGCAAGAGAAAGAACCAGATGTGTGAACAGAGCAGGAGAAAGATGCGGTCAGGAGAATACTTACACACACGAGAACTCAGAAACCATTTCCAAGTACCATTGTTCCGGACTTAAAAAATGATCTTATAAGACATTATAAGAAAAGTCTTATAAAGGTAAAGAGTATGCTGTGTAGAAAGACTTCAAGATACTGATGCTCAAGGGTTGTGATTGGACAGGCAGCACTGGTATGTCTGTTCTGATGGGAAGAGCGTTTTCTAGAGTTTTTCTGAGTGGGACACACTTTTCTGAGTGTGACATAGGGATGTTTATGTTTTTTATAAACAGACAGGAAGTTTACATAATGGATTAAATTATCCAGCTTTCTTCTGCTGATGTGAAATGTTGGTTTCATAATTTTATATTAAACTTCTAAATCTATCTAAAAATAAATAAAGACCTATGCAAAATAGGAAAGTATAAATTCCATATAGGAAAAAACCCAGACATCAGAAACTGCTCTGAAAGGGCTCAGATGTTGGACTTAGCAAAGACTTCAAAGCAGCCACTGGAAACGTGGTGAAGGAGCTGAAGGAAACCAGCCTGGTGAAGTGAAGGAAGCTACAACGACAGTGTCTCATCAGGTAGAGAACAGGAACAGAGAGAAATCATAAGAAAGAACCAAATGCTGCAGAGAAATTAAAACATCCTCACACAAAAACGTGTACACAAGTGTTCGTAACAGCATTATTCAAATGTCCATCAACTGATGAATGGAGAAAGAAAACGTGGTCTGTTCACAGCAGAGAATGTGATTCAGCCATGAAAAGGAGCAAAGCATTGACACAGGCTACAATCTGGAGGGGCCTTGAAACCTCAGCTCAGTGGGAGCAGCCGGGCACAAAAGACCAGGTGTTGTGTGATTCCATTTCCATGAAACATCCAGAATGGGCAAATCCTTAGAGAGAGGAGGTAGATTAGTGGCTGCCAAGGGCTGGAGAGGGGAAAATAAGAGCGACCACTAAAAGGTACAGATTTTTTGTGGCGCTGAAACTGTTCTAGAATTCACTGCAGTGATGTTTGTAAAATTGTGAATATACCAAAAACCACTTTGTATATATCATGAGTTATATCTCAGTAAAGCTCTTTTTCATACAGATAGAGAGAGATGGAGAGGGAGGGATGGGTTCGTGGGTAGATACATATTATAACTAATACAGGTCCACAATCTCTTATCTGCAATTCTGAAATCCAAAAGGTCTTTTAAAATGTCTTATTATTGTTATTTTCACATAGTCTTAAGTTGAATAACTGATAAAAATAGGTTCAGAGTCATTTATGGCCTCCACTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCAGCTCCTGGGTTCACGACATTCTCCTGCCGCAGCCTCCTGAGTAGCTGAGGCTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAAC 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Task1_train_22053 | This gene mutation involves IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Saldino-Mainzer syndrome | TTATTCAAATGTCCATCAACTGATGAATGGAGAAAGAAAACGTGGTCTGTTCACAGCAGAGAATGTGATTCAGCCATGAAAAGGAGCAAAGCATTGACACAGGCTACAATCTGGAGGGGCCTTGAAACCTCAGCTCAGTGGGAGCAGCCGGGCACAAAAGACCAGGTGTTGTGTGATTCCATTTCCATGAAACATCCAGAATGGGCAAATCCTTAGAGAGAGGAGGTAGATTAGTGGCTGCCAAGGGCTGGAGAGGGGAAAATAAGAGCGACCACTAAAAGGTACAGATTTTTTGTGGCGCTGAAACTGTTCTAGAATTCACTGCAGTGATGTTTGTAAAATTGTGAATATACCAAAAACCACTTTGTATATATCATGAGTTATATCTCAGTAAAGCTCTTTTTCATACAGATAGAGAGAGATGGAGAGGGAGGGATGGGTTCGTGGGTAGATACATATTATAACTAATACAGGTCCACAATCTCTTATCTGCAATTCTGAAATCCAAAAGGTCTTTTAAAATGTCTTATTATTGTTATTTTCACATAGTCTTAAGTTGAATAACTGATAAAAATAGGTTCAGAGTCATTTATGGCCTCCACTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCAGCTCCTGGGTTCACGACATTCTCCTGCCGCAGCCTCCTGAGTAGCTGAGGCTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTACAGTAACACACACAGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATATAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCACGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCT 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TTATTCAAATGTCCATCAACTGATGAATGGAGAAAGAAAACGTGGTCTGTTCACAGCAGAGAATGTGATTCAGCCATGAAAAGGAGCAAAGCATTGACACAGGCTACAATCTGGAGGGGCCTTGAAACCTCAGCTCAGTGGGAGCAGCCGGGCACAAAAGACCAGGTGTTGTGTGATTCCATTTCCATGAAACATCCAGAATGGGCAAATCCTTAGAGAGAGGAGGTAGATTAGTGGCTGCCAAGGGCTGGAGAGGGGAAAATAAGAGCGACCACTAAAAGGTACAGATTTTTTGTGGCGCTGAAACTGTTCTAGAATTCACTGCAGTGATGTTTGTAAAATTGTGAATATACCAAAAACCACTTTGTATATATCATGAGTTATATCTCAGTAAAGCTCTTTTTCATACAGATAGAGAGAGATGGAGAGGGAGGGATGGGTTCGTGGGTAGATACATATTATAACTAATACAGGTCCACAATCTCTTATCTGCAATTCTGAAATCCAAAAGGTCTTTTAAAATGTCTTATTATTGTTATTTTCACATAGTCTTAAGTTGAATAACTGATAAAAATAGGTTCAGAGTCATTTATGGCCTCCACTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCAGCTCCTGGGTTCACGACATTCTCCTGCCGCAGCCTCCTGAGTAGCTGAGGCTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTATAGTAACACACACAGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATATAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCACGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCT 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Task1_train_22054 | A change on Chromosome 16 affects gene IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Retinitis pigmentosa 80 | CATCAACTGATGAATGGAGAAAGAAAACGTGGTCTGTTCACAGCAGAGAATGTGATTCAGCCATGAAAAGGAGCAAAGCATTGACACAGGCTACAATCTGGAGGGGCCTTGAAACCTCAGCTCAGTGGGAGCAGCCGGGCACAAAAGACCAGGTGTTGTGTGATTCCATTTCCATGAAACATCCAGAATGGGCAAATCCTTAGAGAGAGGAGGTAGATTAGTGGCTGCCAAGGGCTGGAGAGGGGAAAATAAGAGCGACCACTAAAAGGTACAGATTTTTTGTGGCGCTGAAACTGTTCTAGAATTCACTGCAGTGATGTTTGTAAAATTGTGAATATACCAAAAACCACTTTGTATATATCATGAGTTATATCTCAGTAAAGCTCTTTTTCATACAGATAGAGAGAGATGGAGAGGGAGGGATGGGTTCGTGGGTAGATACATATTATAACTAATACAGGTCCACAATCTCTTATCTGCAATTCTGAAATCCAAAAGGTCTTTTAAAATGTCTTATTATTGTTATTTTCACATAGTCTTAAGTTGAATAACTGATAAAAATAGGTTCAGAGTCATTTATGGCCTCCACTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCAGCTCCTGGGTTCACGACATTCTCCTGCCGCAGCCTCCTGAGTAGCTGAGGCTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTACAGTAACACACACAGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATATAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCACGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCTGCCCGCTGAGTTC | CATCAACTGATGAATGGAGAAAGAAAACGTGGTCTGTTCACAGCAGAGAATGTGATTCAGCCATGAAAAGGAGCAAAGCATTGACACAGGCTACAATCTGGAGGGGCCTTGAAACCTCAGCTCAGTGGGAGCAGCCGGGCACAAAAGACCAGGTGTTGTGTGATTCCATTTCCATGAAACATCCAGAATGGGCAAATCCTTAGAGAGAGGAGGTAGATTAGTGGCTGCCAAGGGCTGGAGAGGGGAAAATAAGAGCGACCACTAAAAGGTACAGATTTTTTGTGGCGCTGAAACTGTTCTAGAATTCACTGCAGTGATGTTTGTAAAATTGTGAATATACCAAAAACCACTTTGTATATATCATGAGTTATATCTCAGTAAAGCTCTTTTTCATACAGATAGAGAGAGATGGAGAGGGAGGGATGGGTTCGTGGGTAGATACATATTATAACTAATACAGGTCCACAATCTCTTATCTGCAATTCTGAAATCCAAAAGGTCTTTTAAAATGTCTTATTATTGTTATTTTCACATAGTCTTAAGTTGAATAACTGATAAAAATAGGTTCAGAGTCATTTATGGCCTCCACTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCAGCTCCTGGGTTCACGACATTCTCCTGCCGCAGCCTCCTGAGTAGCTGAGGCTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTACAGTAACACACACGGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATATAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCACGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCTGCCCGCTGAGTTC 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Task1_train_22055 | The variant affects gene LOC105371046, IFT140 (uncharacterized LOC105371046| intraflagellar transport 140), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Saldino-Mainzer syndrome | GATTCAGCCATGAAAAGGAGCAAAGCATTGACACAGGCTACAATCTGGAGGGGCCTTGAAACCTCAGCTCAGTGGGAGCAGCCGGGCACAAAAGACCAGGTGTTGTGTGATTCCATTTCCATGAAACATCCAGAATGGGCAAATCCTTAGAGAGAGGAGGTAGATTAGTGGCTGCCAAGGGCTGGAGAGGGGAAAATAAGAGCGACCACTAAAAGGTACAGATTTTTTGTGGCGCTGAAACTGTTCTAGAATTCACTGCAGTGATGTTTGTAAAATTGTGAATATACCAAAAACCACTTTGTATATATCATGAGTTATATCTCAGTAAAGCTCTTTTTCATACAGATAGAGAGAGATGGAGAGGGAGGGATGGGTTCGTGGGTAGATACATATTATAACTAATACAGGTCCACAATCTCTTATCTGCAATTCTGAAATCCAAAAGGTCTTTTAAAATGTCTTATTATTGTTATTTTCACATAGTCTTAAGTTGAATAACTGATAAAAATAGGTTCAGAGTCATTTATGGCCTCCACTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCAGCTCCTGGGTTCACGACATTCTCCTGCCGCAGCCTCCTGAGTAGCTGAGGCTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTACAGTAACACACACAGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATATAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCACGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCTGCCCGCTGAGTTCTGCAGGTGGAATGAGAGGCTGTGCAGCGAGTGTGACTCTCTTACTTGCACCCC | GATTCAGCCATGAAAAGGAGCAAAGCATTGACACAGGCTACAATCTGGAGGGGCCTTGAAACCTCAGCTCAGTGGGAGCAGCCGGGCACAAAAGACCAGGTGTTGTGTGATTCCATTTCCATGAAACATCCAGAATGGGCAAATCCTTAGAGAGAGGAGGTAGATTAGTGGCTGCCAAGGGCTGGAGAGGGGAAAATAAGAGCGACCACTAAAAGGTACAGATTTTTTGTGGCGCTGAAACTGTTCTAGAATTCACTGCAGTGATGTTTGTAAAATTGTGAATATACCAAAAACCACTTTGTATATATCATGAGTTATATCTCAGTAAAGCTCTTTTTCATACAGATAGAGAGAGATGGAGAGGGAGGGATGGGTTCGTGGGTAGATACATATTATAACTAATACAGGTCCACAATCTCTTATCTGCAATTCTGAAATCCAAAAGGTCTTTTAAAATGTCTTATTATTGTTATTTTCACATAGTCTTAAGTTGAATAACTGATAAAAATAGGTTCAGAGTCATTTATGGCCTCCACTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCAGCTCCTGGGTTCACGACATTCTCCTGCCGCAGCCTCCTGAGTAGCTGAGGCTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTACAGTAACACACACAGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATACAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCACGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCTGCCCGCTGAGTTCTGCAGGTGGAATGAGAGGCTGTGCAGCGAGTGTGACTCTCTTACTTGCACCCC 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Task1_train_22056 | Here is a mutation in IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Saldino-Mainzer syndrome | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTACAGTAACACACACAGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATATAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCACGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCTGCCCGCTGAGTTCTGCAGGTGGAATGAGAGGCTGTGCAGCGAGTGTGACTCTCTTACTTGCACCCCAGGTCATGAGGGGTGCAGCTTGGGGGTGGGCCCAGGCTGTCTCCCATCAGGCCTCACATCCACCCAAAGATGCAGGAGAATCTCCATCTCTTTTGTTTCCTTCACCTATGAATTGAATGTGGTATGATAAATAATGACACCGCTAGCTACGTTAGCCGCCCTAACTCAGTTGATAGGCTTTTTTTCAGTCTTGCTATCCAGAAGAGAAAGGGCCGTCAACGAGGCCAGAGAGAACCTGGCCCAAGATCCCCAGCGTGAGCCCCCAAGCCCACTCCCACTCACCTTCATCACTTCTTCTGCTTTGCCCTCAGGAGGCACCGTGTACAGGGACAGCCGGAGGTTCTCTGTGACCACCACCAGTGCCTCCCTCTTCTCCATGTAGAACAGCATCTGAATCGTGCTGTCTGCGGACACCACCTGAGTGGTCTTGCCCTTCTCATCCACATAGTGCACTGTCCCTGGGGACAAACGTGGGGTCACTACATGAGGAGGCCCTGGTTTATCTGCTTCCATGACCCTCACCAGCAGCCATTTCTATCAACTTAAGGACATTTTCAAAGCAAAGCATCTTCAGTATAAGAACTTAAAAATGGGCCGGGCAAAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTAGATCACCTGGGGTCAGGATTTCAAGACCAGCCTGGC 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GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTACAGTAACACACACAGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATATAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCATGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCTGCCCGCTGAGTTCTGCAGGTGGAATGAGAGGCTGTGCAGCGAGTGTGACTCTCTTACTTGCACCCCAGGTCATGAGGGGTGCAGCTTGGGGGTGGGCCCAGGCTGTCTCCCATCAGGCCTCACATCCACCCAAAGATGCAGGAGAATCTCCATCTCTTTTGTTTCCTTCACCTATGAATTGAATGTGGTATGATAAATAATGACACCGCTAGCTACGTTAGCCGCCCTAACTCAGTTGATAGGCTTTTTTTCAGTCTTGCTATCCAGAAGAGAAAGGGCCGTCAACGAGGCCAGAGAGAACCTGGCCCAAGATCCCCAGCGTGAGCCCCCAAGCCCACTCCCACTCACCTTCATCACTTCTTCTGCTTTGCCCTCAGGAGGCACCGTGTACAGGGACAGCCGGAGGTTCTCTGTGACCACCACCAGTGCCTCCCTCTTCTCCATGTAGAACAGCATCTGAATCGTGCTGTCTGCGGACACCACCTGAGTGGTCTTGCCCTTCTCATCCACATAGTGCACTGTCCCTGGGGACAAACGTGGGGTCACTACATGAGGAGGCCCTGGTTTATCTGCTTCCATGACCCTCACCAGCAGCCATTTCTATCAACTTAAGGACATTTTCAAAGCAAAGCATCTTCAGTATAAGAACTTAAAAATGGGCCGGGCAAAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTAGATCACCTGGGGTCAGGATTTCAAGACCAGCCTGGC 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Task1_train_22057 | A change on Chromosome 16 affects gene IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Joubert syndrome with Jeune asphyxiating thoracic dystrophy | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTACAGTAACACACACAGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATATAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCACGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCTGCCCGCTGAGTTCTGCAGGTGGAATGAGAGGCTGTGCAGCGAGTGTGACTCTCTTACTTGCACCCCAGGTCATGAGGGGTGCAGCTTGGGGGTGGGCCCAGGCTGTCTCCCATCAGGCCTCACATCCACCCAAAGATGCAGGAGAATCTCCATCTCTTTTGTTTCCTTCACCTATGAATTGAATGTGGTATGATAAATAATGACACCGCTAGCTACGTTAGCCGCCCTAACTCAGTTGATAGGCTTTTTTTCAGTCTTGCTATCCAGAAGAGAAAGGGCCGTCAACGAGGCCAGAGAGAACCTGGCCCAAGATCCCCAGCGTGAGCCCCCAAGCCCACTCCCACTCACCTTCATCACTTCTTCTGCTTTGCCCTCAGGAGGCACCGTGTACAGGGACAGCCGGAGGTTCTCTGTGACCACCACCAGTGCCTCCCTCTTCTCCATGTAGAACAGCATCTGAATCGTGCTGTCTGCGGACACCACCTGAGTGGTCTTGCCCTTCTCATCCACATAGTGCACTGTCCCTGGGGACAAACGTGGGGTCACTACATGAGGAGGCCCTGGTTTATCTGCTTCCATGACCCTCACCAGCAGCCATTTCTATCAACTTAAGGACATTTTCAAAGCAAAGCATCTTCAGTATAAGAACTTAAAAATGGGCCGGGCAAAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTAGATCACCTGGGGTCAGGATTTCAAGACCAGCCTGGC 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GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTACAGTAACACACACAGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATATAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCATGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCTGCCCGCTGAGTTCTGCAGGTGGAATGAGAGGCTGTGCAGCGAGTGTGACTCTCTTACTTGCACCCCAGGTCATGAGGGGTGCAGCTTGGGGGTGGGCCCAGGCTGTCTCCCATCAGGCCTCACATCCACCCAAAGATGCAGGAGAATCTCCATCTCTTTTGTTTCCTTCACCTATGAATTGAATGTGGTATGATAAATAATGACACCGCTAGCTACGTTAGCCGCCCTAACTCAGTTGATAGGCTTTTTTTCAGTCTTGCTATCCAGAAGAGAAAGGGCCGTCAACGAGGCCAGAGAGAACCTGGCCCAAGATCCCCAGCGTGAGCCCCCAAGCCCACTCCCACTCACCTTCATCACTTCTTCTGCTTTGCCCTCAGGAGGCACCGTGTACAGGGACAGCCGGAGGTTCTCTGTGACCACCACCAGTGCCTCCCTCTTCTCCATGTAGAACAGCATCTGAATCGTGCTGTCTGCGGACACCACCTGAGTGGTCTTGCCCTTCTCATCCACATAGTGCACTGTCCCTGGGGACAAACGTGGGGTCACTACATGAGGAGGCCCTGGTTTATCTGCTTCCATGACCCTCACCAGCAGCCATTTCTATCAACTTAAGGACATTTTCAAAGCAAAGCATCTTCAGTATAAGAACTTAAAAATGGGCCGGGCAAAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTAGATCACCTGGGGTCAGGATTTCAAGACCAGCCTGGC 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Task1_train_22058 | Here is a genetic alteration in IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Saldino-Mainzer syndrome | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTACAGTAACACACACAGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATATAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCACGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCTGCCCGCTGAGTTCTGCAGGTGGAATGAGAGGCTGTGCAGCGAGTGTGACTCTCTTACTTGCACCCCAGGTCATGAGGGGTGCAGCTTGGGGGTGGGCCCAGGCTGTCTCCCATCAGGCCTCACATCCACCCAAAGATGCAGGAGAATCTCCATCTCTTTTGTTTCCTTCACCTATGAATTGAATGTGGTATGATAAATAATGACACCGCTAGCTACGTTAGCCGCCCTAACTCAGTTGATAGGCTTTTTTTCAGTCTTGCTATCCAGAAGAGAAAGGGCCGTCAACGAGGCCAGAGAGAACCTGGCCCAAGATCCCCAGCGTGAGCCCCCAAGCCCACTCCCACTCACCTTCATCACTTCTTCTGCTTTGCCCTCAGGAGGCACCGTGTACAGGGACAGCCGGAGGTTCTCTGTGACCACCACCAGTGCCTCCCTCTTCTCCATGTAGAACAGCATCTGAATCGTGCTGTCTGCGGACACCACCTGAGTGGTCTTGCCCTTCTCATCCACATAGTGCACTGTCCCTGGGGACAAACGTGGGGTCACTACATGAGGAGGCCCTGGTTTATCTGCTTCCATGACCCTCACCAGCAGCCATTTCTATCAACTTAAGGACATTTTCAAAGCAAAGCATCTTCAGTATAAGAACTTAAAAATGGGCCGGGCAAAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTAGATCACCTGGGGTCAGGATTTCAAGACCAGCCTGGC | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTACAGTAACACACACAGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATATAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCATGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCTGCCCGCTGAGTTCTGCAGGTGGAATGAGAGGCTGTGCAGCGAGTGTGACTCTCTTACTTGCACCCCAGGTCATGAGGGGTGCAGCTTGGGGGTGGGCCCAGGCTGTCTCCCATCAGGCCTCACATCCACCCAAAGATGCAGGAGAATCTCCATCTCTTTTGTTTCCTTCACCTATGAATTGAATGTGGTATGATAAATAATGACACCGCTAGCTACGTTAGCCGCCCTAACTCAGTTGATAGGCTTTTTTTCAGTCTTGCTATCCAGAAGAGAAAGGGCCGTCAACGAGGCCAGAGAGAACCTGGCCCAAGATCCCCAGCGTGAGCCCCCAAGCCCACTCCCACTCACCTTCATCACTTCTTCTGCTTTGCCCTCAGGAGGCACCGTGTACAGGGACAGCCGGAGGTTCTCTGTGACCACCACCAGTGCCTCCCTCTTCTCCATGTAGAACAGCATCTGAATCGTGCTGTCTGCGGACACCACCTGAGTGGTCTTGCCCTTCTCATCCACATAGTGCACTGTCCCTGGGGACAAACGTGGGGTCACTACATGAGGAGGCCCTGGTTTATCTGCTTCCATGACCCTCACCAGCAGCCATTTCTATCAACTTAAGGACATTTTCAAAGCAAAGCATCTTCAGTATAAGAACTTAAAAATGGGCCGGGCAAAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTAGATCACCTGGGGTCAGGATTTCAAGACCAGCCTGGC 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Task1_train_22059 | Here is a variant affecting IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Retinitis pigmentosa 80 | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTACAGTAACACACACAGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATATAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCACGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCTGCCCGCTGAGTTCTGCAGGTGGAATGAGAGGCTGTGCAGCGAGTGTGACTCTCTTACTTGCACCCCAGGTCATGAGGGGTGCAGCTTGGGGGTGGGCCCAGGCTGTCTCCCATCAGGCCTCACATCCACCCAAAGATGCAGGAGAATCTCCATCTCTTTTGTTTCCTTCACCTATGAATTGAATGTGGTATGATAAATAATGACACCGCTAGCTACGTTAGCCGCCCTAACTCAGTTGATAGGCTTTTTTTCAGTCTTGCTATCCAGAAGAGAAAGGGCCGTCAACGAGGCCAGAGAGAACCTGGCCCAAGATCCCCAGCGTGAGCCCCCAAGCCCACTCCCACTCACCTTCATCACTTCTTCTGCTTTGCCCTCAGGAGGCACCGTGTACAGGGACAGCCGGAGGTTCTCTGTGACCACCACCAGTGCCTCCCTCTTCTCCATGTAGAACAGCATCTGAATCGTGCTGTCTGCGGACACCACCTGAGTGGTCTTGCCCTTCTCATCCACATAGTGCACTGTCCCTGGGGACAAACGTGGGGTCACTACATGAGGAGGCCCTGGTTTATCTGCTTCCATGACCCTCACCAGCAGCCATTTCTATCAACTTAAGGACATTTTCAAAGCAAAGCATCTTCAGTATAAGAACTTAAAAATGGGCCGGGCAAAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTAGATCACCTGGGGTCAGGATTTCAAGACCAGCCTGGC | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTACAGTAACACACACAGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATATAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCATGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCTGCCCGCTGAGTTCTGCAGGTGGAATGAGAGGCTGTGCAGCGAGTGTGACTCTCTTACTTGCACCCCAGGTCATGAGGGGTGCAGCTTGGGGGTGGGCCCAGGCTGTCTCCCATCAGGCCTCACATCCACCCAAAGATGCAGGAGAATCTCCATCTCTTTTGTTTCCTTCACCTATGAATTGAATGTGGTATGATAAATAATGACACCGCTAGCTACGTTAGCCGCCCTAACTCAGTTGATAGGCTTTTTTTCAGTCTTGCTATCCAGAAGAGAAAGGGCCGTCAACGAGGCCAGAGAGAACCTGGCCCAAGATCCCCAGCGTGAGCCCCCAAGCCCACTCCCACTCACCTTCATCACTTCTTCTGCTTTGCCCTCAGGAGGCACCGTGTACAGGGACAGCCGGAGGTTCTCTGTGACCACCACCAGTGCCTCCCTCTTCTCCATGTAGAACAGCATCTGAATCGTGCTGTCTGCGGACACCACCTGAGTGGTCTTGCCCTTCTCATCCACATAGTGCACTGTCCCTGGGGACAAACGTGGGGTCACTACATGAGGAGGCCCTGGTTTATCTGCTTCCATGACCCTCACCAGCAGCCATTTCTATCAACTTAAGGACATTTTCAAAGCAAAGCATCTTCAGTATAAGAACTTAAAAATGGGCCGGGCAAAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTAGATCACCTGGGGTCAGGATTTCAAGACCAGCCTGGC 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Task1_train_22060 | Assess the clinical impact of this variant on gene IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Retinal dystrophy | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTACAGTAACACACACAGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATATAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCACGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCTGCCCGCTGAGTTCTGCAGGTGGAATGAGAGGCTGTGCAGCGAGTGTGACTCTCTTACTTGCACCCCAGGTCATGAGGGGTGCAGCTTGGGGGTGGGCCCAGGCTGTCTCCCATCAGGCCTCACATCCACCCAAAGATGCAGGAGAATCTCCATCTCTTTTGTTTCCTTCACCTATGAATTGAATGTGGTATGATAAATAATGACACCGCTAGCTACGTTAGCCGCCCTAACTCAGTTGATAGGCTTTTTTTCAGTCTTGCTATCCAGAAGAGAAAGGGCCGTCAACGAGGCCAGAGAGAACCTGGCCCAAGATCCCCAGCGTGAGCCCCCAAGCCCACTCCCACTCACCTTCATCACTTCTTCTGCTTTGCCCTCAGGAGGCACCGTGTACAGGGACAGCCGGAGGTTCTCTGTGACCACCACCAGTGCCTCCCTCTTCTCCATGTAGAACAGCATCTGAATCGTGCTGTCTGCGGACACCACCTGAGTGGTCTTGCCCTTCTCATCCACATAGTGCACTGTCCCTGGGGACAAACGTGGGGTCACTACATGAGGAGGCCCTGGTTTATCTGCTTCCATGACCCTCACCAGCAGCCATTTCTATCAACTTAAGGACATTTTCAAAGCAAAGCATCTTCAGTATAAGAACTTAAAAATGGGCCGGGCAAAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTAGATCACCTGGGGTCAGGATTTCAAGACCAGCCTGGC | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTACAGTAACACACACAGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATATAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCATGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCTGCCCGCTGAGTTCTGCAGGTGGAATGAGAGGCTGTGCAGCGAGTGTGACTCTCTTACTTGCACCCCAGGTCATGAGGGGTGCAGCTTGGGGGTGGGCCCAGGCTGTCTCCCATCAGGCCTCACATCCACCCAAAGATGCAGGAGAATCTCCATCTCTTTTGTTTCCTTCACCTATGAATTGAATGTGGTATGATAAATAATGACACCGCTAGCTACGTTAGCCGCCCTAACTCAGTTGATAGGCTTTTTTTCAGTCTTGCTATCCAGAAGAGAAAGGGCCGTCAACGAGGCCAGAGAGAACCTGGCCCAAGATCCCCAGCGTGAGCCCCCAAGCCCACTCCCACTCACCTTCATCACTTCTTCTGCTTTGCCCTCAGGAGGCACCGTGTACAGGGACAGCCGGAGGTTCTCTGTGACCACCACCAGTGCCTCCCTCTTCTCCATGTAGAACAGCATCTGAATCGTGCTGTCTGCGGACACCACCTGAGTGGTCTTGCCCTTCTCATCCACATAGTGCACTGTCCCTGGGGACAAACGTGGGGTCACTACATGAGGAGGCCCTGGTTTATCTGCTTCCATGACCCTCACCAGCAGCCATTTCTATCAACTTAAGGACATTTTCAAAGCAAAGCATCTTCAGTATAAGAACTTAAAAATGGGCCGGGCAAAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTAGATCACCTGGGGTCAGGATTTCAAGACCAGCCTGGC |
Task1_train_22061 | Consider a variant on Chromosome 16 in gene IFT140, LOC105371046 (intraflagellar transport 140| uncharacterized LOC105371046). Determine its clinical classification and disease relevance. | Pathogenic; Retinitis pigmentosa | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTACAGTAACACACACAGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATATAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCACGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCTGCCCGCTGAGTTCTGCAGGTGGAATGAGAGGCTGTGCAGCGAGTGTGACTCTCTTACTTGCACCCCAGGTCATGAGGGGTGCAGCTTGGGGGTGGGCCCAGGCTGTCTCCCATCAGGCCTCACATCCACCCAAAGATGCAGGAGAATCTCCATCTCTTTTGTTTCCTTCACCTATGAATTGAATGTGGTATGATAAATAATGACACCGCTAGCTACGTTAGCCGCCCTAACTCAGTTGATAGGCTTTTTTTCAGTCTTGCTATCCAGAAGAGAAAGGGCCGTCAACGAGGCCAGAGAGAACCTGGCCCAAGATCCCCAGCGTGAGCCCCCAAGCCCACTCCCACTCACCTTCATCACTTCTTCTGCTTTGCCCTCAGGAGGCACCGTGTACAGGGACAGCCGGAGGTTCTCTGTGACCACCACCAGTGCCTCCCTCTTCTCCATGTAGAACAGCATCTGAATCGTGCTGTCTGCGGACACCACCTGAGTGGTCTTGCCCTTCTCATCCACATAGTGCACTGTCCCTGGGGACAAACGTGGGGTCACTACATGAGGAGGCCCTGGTTTATCTGCTTCCATGACCCTCACCAGCAGCCATTTCTATCAACTTAAGGACATTTTCAAAGCAAAGCATCTTCAGTATAAGAACTTAAAAATGGGCCGGGCAAAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTAGATCACCTGGGGTCAGGATTTCAAGACCAGCCTGGC | GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGGTCTCCACTTTCATGCAGCAGAAAATGAGTGCACCGAACACCCTTGGAGGCTGTACCTGGATTTGCGTGATGTTTCCTTGGAGCTCGGTAGGGGTCTGAAGGGCCCACCTGTCCTTGCCCTCTGCCCCGGGGCTGCCCAGGAAGTCTGGTACTTTCCTCCACATGGCTACTCGCCCTCTGTCGGTACCAGCGGCCAGAAGACCTACAGGTAGAAACAAACTGCATGTGAACAGAGTTAAAAAAAGGGAACAAAACAGCAACAAGCTCTGTTCTCTAACCCCCTTCTTCAAAGCATCAGCCCTCGCCCAGTCTGGTGCCTCTCCACCTCATCCCTGGCTGCATCTTTCTGCCCAGGTCCTTGCTGCCCTGACCTCACAGTGCCAGTGCGGGGGTGGTGGGGGATGCTGCTCTCCCAGCTTTCCTAGAGGCCAGTTGGCCTGGCTCGGGGCTGCCCCATGCTCAGCACTCAGCAGGCACTAGAGACGCGGCTCTGGCTCACCTCCTAGTCTCCTGTGCTCTGGATGTGCATATGCACACATACACACACATGCATGCACACACACACACACACACACACTTCCTGCACTGTCCTTCCCGTGGCATTTCAGGAGGGAACAGAGATCAATGAGCAGGAATCGGTTTGCTTCTTGTTAGATGGGGTCACGCTCTGTCACACAGACTGGAGTGCACTGGCACCATCTTAGGTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGATGGGACCACCGCTGTACACCATCACACCTGGCTAATTTTTGTATTTTTTGTGGAGACGGGGTCTCACTATGTAGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCCAAGTACTGGGATGCAGGTTGTCATGCTTCTAACCAAACCCCCTGGCCTTCATGTGGGATCACAAAGCTCTGCCGTTGCTTGCTTGCCCTTGCCCGACTATTTGAATGGCTGTGAGTTACCAAGTTACCATTGTGTGAGTAGCCTCCACGTTTCACTACCATTATTTTGCAGCCGGCGCACAATGCTTGTGGTTGGTTCTGTTTCTCTTGTGCCAGGCCAGGAAGCCTCACCTTTGACTTTACAGTAACACACACAGTTCATATTCTCTCCTTTCTCAAAGCCAAACTTCTCATCTGGACTCAGTATATAATTCTCTCCTCGTTCTATGTCCCAGAATCTACAACAGAAGAAAGCAAGCCCCATGGAGGGCCTGTGTTAGTGGCGTTTCCCTCTGAGGGGTTTTTGAACCTGTGGAGCAAACATTAAAAGTCAGGAAAAAGACATAGTTCATCAGACTCCTGATATGAAAACGAACACTGCTGTTACATTTGGGACATTTTATGTCCTGTTTCTAATGAAAGAAAGCCGTTGCCGATAGATGGTGGTTTGTATATGGCAGGAGGTCGCCAAGAGAACACAGGAATTGCAGCCCCACACAGAGCACGAGATGGCCCCGGACAGCACACTGAGCTAACGCAGCAGGCAGCAGAGACCACAACGACTGATTCTAGTTATGCCACACTCCGAAAAACCAGGCAAAGAGATTCCACGGGCAAACACCAAGGCAGGGCCACCTGGGGGTAAGGGGAGCCCCGAGGGAGTGCAGTGGGGCGGGCAGGGACTCTTGGGGTCTCTTAATGCTCAGCTCCTCAGTCTGGGAGCTGGTGAATGGGTACGTCCAGTATGAGAGCACTCAGCATCATATGTGCATTTTACATATGCTCCATTCCAACACAAAGCTGACTTAGAGGAGCCTGTTCCTCAGGGAACTCTCATCAAGGGGCACTGGAAAGGCAGACTCTCACCTGAGGGCAGCCTCCCCGACGGCCATCATGAGAAGGCTGCCTTCAATCAAAGCGATGTCTGCCCGGCGGCCGGTTTTCCCGCTCAGCTTGACCTGTGTGAGGAAACAACCGAGCAGAGGCACCGTGCTTGCTGAGACGGCCTGTCCCGGCTTCAGGAGCCTGGAGTCTCTGGTCCTCAGTGACTTCATGGAGACTCACCAAGTGGGGGAAACATGGGGACAAATGATAGAAACTCTGTGAGGTGGCTTTGGGTTTTGAGATGTAGGGGCCGAAGCAAACCACTACTCTTGTACATTAAATAATGGCTACTGGGCCGGCCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATTGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACACGGGAGGCGGAGATTGCAGTCAGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATAGTAATAATGGCTACTGAGCACAGGGTGTGGGCAGGTGGCCATCGGTGGACATGCTCTGGAGTGATCACTAAGTTGAGCTGGTGCTCCCTGTTCATCCAACCACACGCTCTGGGCAGGCCTATCATCCCTGTTTTGTAGAGAACAAACCTGGCCAGGGCCCACCGGCCAGTGAGGAACTGAGCAGGGTATTTAAAGCAAGGTCTGTGGACTGAACTGCATACCCCAAACTCATATGTGGGAGCCCTAACCCCCAGTGCAACTGTACTTGCCTTCAGGAGGTACTTAAGGTTAATGAGATCCTGGGGTGGATGAGCCCTGGCCTGGCAGGGCTGTGGCCGTGGAAGGAGACACCAGAGCTGGTGCTCCCTCTCCCTCCCTGCCCTGTGGGGACACCGGGAAGAGGCCCCTGCAGGCTGCTTAATGTGGGATATCAGCCTCTAGAACTGTGACAAATGTCTGCTGTCACGTCACGCAGTCCGTGGTAGGTTGTTACGGTGGCCCAAGCTGGCCCCTGGGACGAGGTCCCTGTGACTAGTGCCCATGTCCTCAGCCGCCCTTACAGGGCATGTAAAGGCCCGAATGAACACTGACTGAGAAAAAATCAGCTCTGTCATCTGCAAGAGCATCTTTAGGGAAAGTTCAGTGGCCTCCAAGGAGCAGGGATTCCTGTGGAACAAACCAGCTGGAAGACGGGGATACGGTCGCCTGCCCGCTGAGTTCTGCAGGTGGAATGAGAGGCTGTGCAGCGAGTGTGACTCTCTTACTTGCACCCCAGGTCATGAGGGGTGCAGCTTGGGGGTGGGCCCAGGCTGTCTCCCATCAGGCCTCACATCCACCCAAAGATGCAGGAGAATCTCCATCTCTTTTGTTTCCTTCACCTATGAATTGAATGTGGTATGATAAATAATGACACCGCTAGCTACGTTAGCCGCCCTAACTCAGTTGATAGGCTTTTTTTCAGTCTTGCTATCCAGAAGAGAAAGGGCCGTCAACGAGGCCAGAGAGAACCTGGCCCAAGATCCCCAGCGTGAGCCCCCAAGCCCACTCCCACTCACCTTCATCACTTCTTCTGCTTTGCCCTCAGGAGGCACCGTGTACAGGGACAGCCGGAGGTTCTCTGTGACCACCACCAGTGCCTCCCTCTTCTCCATGTAGAACAGCATCTGAATCGTGCTGTCTGCGGACACCACCTGAGTGGTCTTGCCCTTCTCATCCACATAGTGCACTGTCCCTGGGGACAAACGTGGGGTCACTACATGAGGAGGCCCTGGTTTATCTGCTTCCATGACCCTCACCAGCAGCCATTTCTATCAACTTAAGGACATTTTCAAAGCAAAGCATCTTCAGTATAAGAACTTAAAAATGGGCCGGGCAAAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTAGATCACCTGGGGTCAGGATTTCAAGACCAGCCTGGC 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Task1_train_22062 | Mutation context: Chromosome 16, Gene IGFALS (insulin like growth factor binding protein acid labile subunit). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Short stature due to primary acid-labile subunit deficiency | GGGCTCTGCTCCAGCCTCTCAGAGAAACAGAGGCCTGGGCTCGGTTCCCGGGCCCTGCAGGGGCAGGCCCAGGCAGCGTCAGCCGGAGAGCTTCTCCCCGACCAGCCCAGCCCCAGGATGTGTCGCACCAGCAGCTCTGCCTGGTTGGCCTGCAGTGCCGTGGTCTGCGTGCTCTGCAGCTGTGAGACGGGGGCGGCCTGGGCTCTCTTCCCATCCATGTTGCCTACCTGTGCCCCTGGCAGCCGCGTGTCCACACAGTTAGCGGAGCGCGGGACTTCTGCAGTCCTCAGGTGACCCCGGGCCTCCAGCACCCTGGGTCGCTGTCATCTGTGTTTAGCTCGGGGAGTGCCCCCTAAGGGGGCGAACTGACCTCAGGCATGTTTTGTAACTGTAGAGGCGCCTGCCATTAAACGTGTCCGCTGCTGTGGCGACAGATCTGATGTTTCTAGAGTCTTCTGTCCTTCGGGGTCAGACAGCACCTGCTTCTGTAAGTTTCTGGGCTGGACTGGGCCAGGCCGGCAGGTTCGTTCGTTCCGTTGTCAACAAGCCCCTGGGCCCAGGTGCTGATGTGTTTGCATCTTATTTGGTGGGAATTCGGGGAGATTTTGTGATAAACCTGACAGCTGGCCCCTTCGCCGTGGAAGAATGGCCTCCCTGGGACACTAAAGGGGCCCCTCCCGGGACAGAGACCAGAAGTCAGGTTGAGAAGGGAGCTCCAATCCCAGGGGTCCCCTGCACCTCTTCCCAGTGAGACCCGAAAGGAAAGCCCTTCCAGAAAGCAGAACGCGCCATTTTTCCCAAAGGAAGAGCTCAGCCTTCAGCAGGGGAGGACCCTGGAGGTGGGGGCCCGGAACCAACCCGGGCGGCCTCTGGGTGGGTGAGAGGGCACCAGGAGCACCTGGGCTGACGATGCCGGTGCCTGGGGGGGGCAGAGACAAACGCCCACGGCATCTGCAGGGGGTGCGGCTTCCCACGCAAGGCGGACGGCCCGCCCCGCGCTCCCTCCTCACCCCACCTCAGCCGCGCCCTGGCTGCCTGGACCACACCCCTCGGGGACACTGCCTGGTCCTCAGGGCGATCCCTCAAAGAGGAGGGGTGAGACGCAGAGCCCCTGGGGATTCGAGTTGGTGCCATCATTCCTGGAGGATGTTCTGGGGAGCCCGAGGGGCAGCCACGGGGACCAGGAAGACACATGGGTGTGGGGCAGTTGGCCAGGGCGGTGGCGGGGCAGGATCCAGGCGGGGGCCCTGGGCGTGGCCAAGCCGGGGAGGAGAGAGGTGAGGAGACCAAGGCGTACCCAGGCAACACCATCCTCCCCTCCCCTGAGCCAGGTGGGTTTTTTTGAGACAGGGTGTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTTGGCTCACGGCAGCCTCTACCTCCCAGGCTCCAGTAGTCCTCCTGCCTCGGCCTCCCTAGGACCACAGGCATGGGCCACCATGCTATGCTAATTTTTTTTATTTTTTGTAGAGACGGGGTCTCTCTTGTGTTGCCCAGGACGGTCTCTCAAACTCCTGGGCTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGCTCTGAGACCACAGCTGCGCGCCGAGCCCCCAGCCCCCTCCCTGGTTTCACGTTCGCAGTCACCCACTGTGCCTGTTAGATTCGATTGCCTTTGCCTTTAATTGATGACAGCTGGGGGGGCCGCCATGCCTTCCACCCCATCAGGCCCTTGCGTCTTCCAGCAAGTGCACTGGGCAGGCCCCTGAGGACACTGAGGACCTGTCCCCAGCACAAGGTGAGCCAGGTGGGGGCCTGAGTCCGGGGCTTGAGTCCGGGGACCTGGTCAGCAGGGAGCAAAGTGGGCCTCGCTGAGGTCCCGCAGGTCGAGCCCCACGACCTCGGGCGGGCTGGCACAGGTGATGTTGTTGTAGGTGTACGCGGGCGGCTGGCAATCGTCCCCCTCACAGATGGCCTGGACGAAGCGGGGCACAGCACTGGGGTTCTGCAGGGCGAAGTCCCGCAGCGCCTTGAGAGGGCAGCCACAGTCCCAGGGGTTACCCTCCAGCCACAGGCGCTCCAGGCCCGGGGGCTGCGGCGTGAAGGTCCGCAGTGAGTTGTTCCTGAGGCTGAGGTAGCGCAGCCGCCCCAGTGGTGCCAAGAGGCTGTTGGGCAATGCCTCCAGGCGGTTGTGCGAGACGTCCAGCCAGAAGGCCCGCTGCAGGGGGCCCAGGGCGTCCGCCGGCAGCTCTGCCAGGCGGTTGCGGGAGAGCAGCAGGTACTCCAGCTTGCCCAGGCCCTGGAAGAGGCGGTGGGGCAGGTGCGTGAGCTGGTTGGAGGTCAGGTCGAGCTCCAGCAGCTCCGCCAGCCCCCACAGGCTCTGCTCCTCAATGCCCACGAGGCCGTTGTCCTTGAGGAAGAGTCGGCGGAGCCCCGAGAGGCCGGTGAAGGTGTGCGGGCGGATGCGTCCCAGGCAGCTGCCCTCCAGGTGCAGGCTGTGCAGCTTGCCCAGGCCCCGGAACACCTGCTCCGGAAGGTTCCGGAGACAGTTCCCAGAGAGGTTCATGACCGCCACGTTGGTGAGGCCGAGGAAAGCGCCCGCCTTGACCTCCTGGAGCTGGTTGTGGTCTAGCGTGAGCACCTCAAGCTGCCCCAGGCCCTCAAAGCTGCGCTCAGCCAGCTGCCGGATGCGGTTGTGGCCCAGCTGCAGCTCCTCCAGGAAGTGCAGGTCCTTGAAGGTGCGGGGCCGCAGGCTGGCGATGGCGTTGTGGGACAGCCGCAGCACACGCAGGCCCAGCAGACCGGGGAACGTGTCCTCCAGGAGGCCAGCCACGCGGTTGTGGGACAGGTCCAGCCATCGCAGCGCCTTCAGGCCCAGGAAGGCGCCCGGGGCCACGGCAGCGATGAGGTTGCGGTCCAGGTAGAGTTTCTGGAGCCGGGGCAGCTGCACGAACACGTTTGCCTTGATGGCCCGCAGCGCGTTCCTGCTCAGGTCCAGCTCCCGGAGCTCGGCCAGGCCGCTGAAGAGCGCGGGCTGCAGGTAGGCCAGCCTGTTGCCCGCCAGCACCAGCTCGCGCAGGCTGCCCAGGCCGCGGAACGCCGCATCGGGGAGCACCGCCAGGCTATTCCAGCCGAGGTTGAGGTCCCAGAGGCTGCCGAGGCCCTCGAAGAGCCCGTCCTCCAGCCTGCTCAGACGGTTGTTGCTGAGGCCGAGCGAGGCCAGCGCGGGCGTGTGTGCAAACGTGCCGAGTGCCAGGCTGCGCAGCTGGTTCCGCTCCAGGTGCAGGTGGCACAGGTTCTCTAGGCCCAGCAGCGCCTGTGGCTCCAGGCTGCCCAGCTGGCCGCCCTGCAGGTTGAGGAAGCCCAGGCTGGAGAGGTTCTGGAAGGCTGCCGGGGGGACGGACGAGAGGTTGTTGCCGTCCAGCCACAGGGCTTGGGTGCCGCCCGGGACTCCATCAGGCAGGCGCGTGAGGTTCCTGGAGCTGCAGAAGACGCTGAGCTCATCCGCGTCGTCATCGTAGCTGCAGACACAGGCGGCCGGGCACGCTGGGCCCTCGGCTTCCCCCGGCGTTCCGGGGTCTGCTCCCTCCAGGCTGCGGGGGCCCAGTGCCACCCAGGACAGCAGCAGCAGCGCCAGGGCCAGGCCTCCTGCGGGGGGAGAGGCTTGGGGAGGCGGCCCGAGGAGGGCTCTGCCCGAGTGAGCCTGATACCAGCACAGCCGGAAGCGGCGCTCAGGTGTGAACTGAGGCTCGAGGTCACCCGCTGAGATGCGAAGAAGCCGGTGAGCCCCACAGGTCCTCCGGCTCAAAAGCTGACACTGCGCTTCCCACCCCATGGGACAGAGGAGTGGCCGCCCCGCCCCGCTGCACAGACGCTCAGGGCTTGGCTCTCCAGCTGTGCGCAGGCCACGTGGGCTCGGCCAGGCTGGGTCTCGGGCTGTCTGGCCATGTGGCAGCCGCACCCCCAAGGCAGGCGCTTGAGCCAGGCCAGTCTGCCACGTTGGCCTAGAGGAAGGGGAGGGAACTGAGCCATTGGCCAAGGTCCGGCCATTTTCAGAATATTCTGCAGCAGGTCTTGGTGGGCACTCGCTCACT 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GGGCTCTGCTCCAGCCTCTCAGAGAAACAGAGGCCTGGGCTCGGTTCCCGGGCCCTGCAGGGGCAGGCCCAGGCAGCGTCAGCCGGAGAGCTTCTCCCCGACCAGCCCAGCCCCAGGATGTGTCGCACCAGCAGCTCTGCCTGGTTGGCCTGCAGTGCCGTGGTCTGCGTGCTCTGCAGCTGTGAGACGGGGGCGGCCTGGGCTCTCTTCCCATCCATGTTGCCTACCTGTGCCCCTGGCAGCCGCGTGTCCACACAGTTAGCGGAGCGCGGGACTTCTGCAGTCCTCAGGTGACCCCGGGCCTCCAGCACCCTGGGTCGCTGTCATCTGTGTTTAGCTCGGGGAGTGCCCCCTAAGGGGGCGAACTGACCTCAGGCATGTTTTGTAACTGTAGAGGCGCCTGCCATTAAACGTGTCCGCTGCTGTGGCGACAGATCTGATGTTTCTAGAGTCTTCTGTCCTTCGGGGTCAGACAGCACCTGCTTCTGTAAGTTTCTGGGCTGGACTGGGCCAGGCCGGCAGGTTCGTTCGTTCCGTTGTCAACAAGCCCCTGGGCCCAGGTGCTGATGTGTTTGCATCTTATTTGGTGGGAATTCGGGGAGATTTTGTGATAAACCTGACAGCTGGCCCCTTCGCCGTGGAAGAATGGCCTCCCTGGGACACTAAAGGGGCCCCTCCCGGGACAGAGACCAGAAGTCAGGTTGAGAAGGGAGCTCCAATCCCAGGGGTCCCCTGCACCTCTTCCCAGTGAGACCCGAAAGGAAAGCCCTTCCAGAAAGCAGAACGCGCCATTTTTCCCAAAGGAAGAGCTCAGCCTTCAGCAGGGGAGGACCCTGGAGGTGGGGGCCCGGAACCAACCCGGGCGGCCTCTGGGTGGGTGAGAGGGCACCAGGAGCACCTGGGCTGACGATGCCGGTGCCTGGGGGGGGCAGAGACAAACGCCCACGGCATCTGCAGGGGGTGCGGCTTCCCACGCAAGGCGGACGGCCCGCCCCGCGCTCCCTCCTCACCCCACCTCAGCCGCGCCCTGGCTGCCTGGACCACACCCCTCGGGGACACTGCCTGGTCCTCAGGGCGATCCCTCAAAGAGGAGGGGTGAGACGCAGAGCCCCTGGGGATTCGAGTTGGTGCCATCATTCCTGGAGGATGTTCTGGGGAGCCCGAGGGGCAGCCACGGGGACCAGGAAGACACATGGGTGTGGGGCAGTTGGCCAGGGCGGTGGCGGGGCAGGATCCAGGCGGGGGCCCTGGGCGTGGCCAAGCCGGGGAGGAGAGAGGTGAGGAGACCAAGGCGTACCCAGGCAACACCATCCTCCCCTCCCCTGAGCCAGGTGGGTTTTTTTGAGACAGGGTGTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTTGGCTCACGGCAGCCTCTACCTCCCAGGCTCCAGTAGTCCTCCTGCCTCGGCCTCCCTAGGACCACAGGCATGGGCCACCATGCTATGCTAATTTTTTTTATTTTTTGTAGAGACGGGGTCTCTCTTGTGTTGCCCAGGACGGTCTCTCAAACTCCTGGGCTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGCTCTGAGACCACAGCTGCGCGCCGAGCCCCCAGCCCCCTCCCTGGTTTCACGTTCGCAGTCACCCACTGTGCCTGTTAGATTCGATTGCCTTTGCCTTTAATTGATGACAGCTGGGGGGGCCGCCATGCCTTCCACCCCATCAGGCCCTTGCGTCTTCCAGCAAGTGCACTGGGCAGGCCCCTGAGGACACTGAGGACCTGTCCCCAGCACAAGGTGAGCCAGGTGGGGGCCTGAGTCCGGGGCTTGAGTCCGGGGACCTGGTCAGCAGGGAGCAAAGTGGGCCTCGCTGAGGTCCCGCAGGTCGAGCCCCACGACCTCGGGCGGGCTGGCACAGGTGATGTTGTTGTAGGTGTACGCGGGCGGCTGGCAATCGTCCCCCTCACAGATGGCCTGGACGAAGCGGGGCACAGCACTGGGGTTCTGCAGGGCGAAGTCCCGCAGCGCCTTGAGAGGGCAGCCACGGTCCCAGGGGTTACCCTCCAGCCACAGGCGCTCCAGGCCCGGGGGCTGCGGCGTGAAGGTCCGCAGTGAGTTGTTCCTGAGGCTGAGGTAGCGCAGCCGCCCCAGTGGTGCCAAGAGGCTGTTGGGCAATGCCTCCAGGCGGTTGTGCGAGACGTCCAGCCAGAAGGCCCGCTGCAGGGGGCCCAGGGCGTCCGCCGGCAGCTCTGCCAGGCGGTTGCGGGAGAGCAGCAGGTACTCCAGCTTGCCCAGGCCCTGGAAGAGGCGGTGGGGCAGGTGCGTGAGCTGGTTGGAGGTCAGGTCGAGCTCCAGCAGCTCCGCCAGCCCCCACAGGCTCTGCTCCTCAATGCCCACGAGGCCGTTGTCCTTGAGGAAGAGTCGGCGGAGCCCCGAGAGGCCGGTGAAGGTGTGCGGGCGGATGCGTCCCAGGCAGCTGCCCTCCAGGTGCAGGCTGTGCAGCTTGCCCAGGCCCCGGAACACCTGCTCCGGAAGGTTCCGGAGACAGTTCCCAGAGAGGTTCATGACCGCCACGTTGGTGAGGCCGAGGAAAGCGCCCGCCTTGACCTCCTGGAGCTGGTTGTGGTCTAGCGTGAGCACCTCAAGCTGCCCCAGGCCCTCAAAGCTGCGCTCAGCCAGCTGCCGGATGCGGTTGTGGCCCAGCTGCAGCTCCTCCAGGAAGTGCAGGTCCTTGAAGGTGCGGGGCCGCAGGCTGGCGATGGCGTTGTGGGACAGCCGCAGCACACGCAGGCCCAGCAGACCGGGGAACGTGTCCTCCAGGAGGCCAGCCACGCGGTTGTGGGACAGGTCCAGCCATCGCAGCGCCTTCAGGCCCAGGAAGGCGCCCGGGGCCACGGCAGCGATGAGGTTGCGGTCCAGGTAGAGTTTCTGGAGCCGGGGCAGCTGCACGAACACGTTTGCCTTGATGGCCCGCAGCGCGTTCCTGCTCAGGTCCAGCTCCCGGAGCTCGGCCAGGCCGCTGAAGAGCGCGGGCTGCAGGTAGGCCAGCCTGTTGCCCGCCAGCACCAGCTCGCGCAGGCTGCCCAGGCCGCGGAACGCCGCATCGGGGAGCACCGCCAGGCTATTCCAGCCGAGGTTGAGGTCCCAGAGGCTGCCGAGGCCCTCGAAGAGCCCGTCCTCCAGCCTGCTCAGACGGTTGTTGCTGAGGCCGAGCGAGGCCAGCGCGGGCGTGTGTGCAAACGTGCCGAGTGCCAGGCTGCGCAGCTGGTTCCGCTCCAGGTGCAGGTGGCACAGGTTCTCTAGGCCCAGCAGCGCCTGTGGCTCCAGGCTGCCCAGCTGGCCGCCCTGCAGGTTGAGGAAGCCCAGGCTGGAGAGGTTCTGGAAGGCTGCCGGGGGGACGGACGAGAGGTTGTTGCCGTCCAGCCACAGGGCTTGGGTGCCGCCCGGGACTCCATCAGGCAGGCGCGTGAGGTTCCTGGAGCTGCAGAAGACGCTGAGCTCATCCGCGTCGTCATCGTAGCTGCAGACACAGGCGGCCGGGCACGCTGGGCCCTCGGCTTCCCCCGGCGTTCCGGGGTCTGCTCCCTCCAGGCTGCGGGGGCCCAGTGCCACCCAGGACAGCAGCAGCAGCGCCAGGGCCAGGCCTCCTGCGGGGGGAGAGGCTTGGGGAGGCGGCCCGAGGAGGGCTCTGCCCGAGTGAGCCTGATACCAGCACAGCCGGAAGCGGCGCTCAGGTGTGAACTGAGGCTCGAGGTCACCCGCTGAGATGCGAAGAAGCCGGTGAGCCCCACAGGTCCTCCGGCTCAAAAGCTGACACTGCGCTTCCCACCCCATGGGACAGAGGAGTGGCCGCCCCGCCCCGCTGCACAGACGCTCAGGGCTTGGCTCTCCAGCTGTGCGCAGGCCACGTGGGCTCGGCCAGGCTGGGTCTCGGGCTGTCTGGCCATGTGGCAGCCGCACCCCCAAGGCAGGCGCTTGAGCCAGGCCAGTCTGCCACGTTGGCCTAGAGGAAGGGGAGGGAACTGAGCCATTGGCCAAGGTCCGGCCATTTTCAGAATATTCTGCAGCAGGTCTTGGTGGGCACTCGCTCACT 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Task1_train_22063 | A variant has been detected on Chromosome 16 in MEIOB (meiosis specific with OB-fold). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Spermatogenic failure 22 | CAACCACTCCCACAAGAGTCCTCCTCTCAAGCTCTGCTTCGAAGGAATCTGCCCTAAGATGGTAAGCCTGTGAGTAGAAGGATACCTTGACATGAAAAAAGACAGATGTAATTTCCAAAGTTTATCTTTTCTCCTCATTCAGTTTTAACATGACAAAGTCAAATTTTTGTAAATCTAAGAATGAGAATCAAAGTACTAAAACCAAAGCCATTTATCATGTGACTCTGTATCAAAGTAAATTATGTCATAATCAAAGATGAATTTTGTAAGAGAAAATTAAACTCCTCATTTTTATTGAAATAGAAACAGAACACTTTTAGTAAGATCTCTGCTAATCTGATACAACATTATTAGTAATGATCATTCTCGCACAATCTCTGTGCTAGACAGATGCTTACCTAGGAGTTGCAGGGCTGAATTTTTCTTCTCTTTCTATTTCCTTTCTTTGGATCAGAGGATTTTCAATTATCACTAAAACAGAGGGCAAAGTATGATGATATTACAAAACAGTAACAAGATAAACACTAACATCCTAAATAACATCCTGTTTAATTTATGATCATCATCGACTCTAGGCTTTAAAAATTCCTCACCTCATTCATCTTCTCCATCATCAACATATAACATATTTTGATACTGAGATGTCAAAATTGAAATCTTTATCTCCATATGTAACTAATATTCCAGCATTTATTCAAGGGATGTCTATAGCTATACTGGGCCCTATGAAGTTTGTGAAGCTTTCTGCCTTCATAGTCCATATGTTCAATGACCCTATTATTCAACTAGAGAGATACCATACATTGTCCTGAAAGTTAACAATACAAGGCAATATATGATTAGGTTCTAAATAACCGGTATGGGGAGTCAGCTGCTTGAGACCACAGTATTAAAGAGGAGTGTTTTCATTACCTGCATTACTCTTTTCTCTTTTTCTATCGTGAAGAACTAGTATACATGCTTTCTTGTTCCTTTTATGAGGCTAGGGCTCATAAAAGTTATCTGTTGAGTGACTAAGTTCCACACGTTATACTAGGTACACCATCTCATTTAATATTTACAAGAACCTAATGAGGTATTATTTCATAGTTGAGACCCAACAAGATTAAGAAATTTTCTCAAAGCCATGATGTAAGTCAATGTTGGAACTGGGATTTGAATCTAGACCTCTGTGTTTTCAAAGTCTCCTGTTCTTCCTACTATATGAGGCTGTTCTGTCAAAGAGATACTGGGGTGAGTAGATGTAAAAGATTTGGTATTTCAACTAAAAGTAAAGTTCCTTAAAATCCCATTAACAATTTAAATATCAGTTTTTATCAAAATCTATTCAGTGGTCAAATGTCAACTTTTATCAAAATATATTCAGTGGCTGTATTATATGTCTATAGAAAGATAACCAATTATAACAATAAAATGGGTTGGTGCAAATTGAAATATGTAATAAACCAAAGACAGTAAGGTTATTTAGTAAAAATATAACTATCACATTTGTATGCTTCAAATAACATTCTGAATGCCTCGCATTGCAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTACTCTGTGACTCAGGCTGGAGTGCAGAGGTACGATGTTGGCTCGCTGCAACCTCCACCTCCAGGGCTCAAGCCACCCTCCTGCTTCAGCCTCCTTAGTAGCTGGTACTACAGGCCCACGCCACCACACCCAGCTAATTTTTTGTAGAAATGGGGTCTTGCCATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCACGCAATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCCCACTGCATTATACTCTTAACACTTGACTTTTTCTGATAAAGTTCTTGAGAATTACGAACTGTGTCTCATTTCAACTCCTTCAGTATAGTTACCATAAACATACCACAGGAATAACACTATGATGGAAAAAGTTTAAGAATCAATGCCAACTTACCACAGTCACCAACCCTAAAGCTGTCAGAAAGAGACTTGATGTAATCTTCATTGCCCCAGGAAGCTGCATTTACAAAATGTGCTGGTGAATCCCGAATGGTGAAGCTGAAAGTGTACCTTTCTGATCCAATATCTAAGGGAAAACCAATGCTTTTATTTTTCAAATGAAGAGTTTCAATCGCTTCTCTGCCTTTTGATAAGTGTTACATGAAAAGTTTCATTTCAATTATAAACAAATGATTATTTGTTTAATCAAATAACTATTGATTATGATAATAAAAATACTCAAATACATAGTACAAAATGTTCTTTCAGATGTATATTCTATAACATGCTTCTATGAATTTCAAGCTGAAGTGGTAACAGGTTGCCCCCTTGCTCCCTTCCCTGGTGATCTGTGTATTTGGAGGGAAAAACATGTAAACTTGAGCCATCCAGGTATTACCTTAGGTTCTCCTTTTCTCTCTTACTGTTGTTTCAACCTAAGTCATAATTCAGATCTAAATAGTTATTTCAGTCCCAGCTACTTAGGAGGATGAAGCAGAATGACTGCTTAAGCCCAAAAGTTCAAGGCTTCAGCGAACTGTGATTGCCCCACTGCTCTCCAGCCTGGGCAACAGAGCAAGACCCCGTCCCAAAAATAAAAGTAAAAATAGGCCGGGCGCAATGGCTCACGCCTGTAATCCTAACACTTTGGGAGCCCGAGGCGGGTGGATCACCTGAGGTTAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCCAGCCTGGGTGACAAGAGAAAAACTCTTGTCTCAAAAATAAATAAATAAATAATAATAAAATAAAAATAAAAATTGGCCAGGCACAACAGCTTACCCCTGTGATCCCAGGACTTTGGGAGGTGAGGTAGGAGAATCACTTGAGGCCTGGAGTTCAAAACCAGCCTGGGCAACATAGAAGGACACCATCTCTACAGAAAATTTTAAAATTAGTGGTGGCACTCATCTTTAGTCTCAGCTACTTGGGAGGCTGAGGAGGAAAGGTTGCTTGAGCCCAGTTTAAGTGTGCGGTGAGCTTTGAATGCACCACTGCACTCCAGCCTGGGAAGAATGAGTTCAGGGTGTTCATGAAATGTACACCCAGGCTGGAGTTCAGTGACGCGATCTCTCGGCTCACTGCAACCCCTGCCTCCCAGCAGCTGGGACTCAGCCTCCTGAGCAGCTGGGGCTACAGACGCACACCACCATGCCAGGCTAATTTTTGTTTTTTGTTTTTTTTTTAGTAAAAACGGGTTTCGTTTTTGTTTGTTTTTGAGACGGAGTTTCGCTCTTGTTACCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACAGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTGTACTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCATGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGCATGAGCCACCGTGCCTGATGAGACAAGGTTTTTTAGTAGAGGTGGGGAAGAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAATAAATTTTAAAAATAATTAAAATAAGTTATTTCAAAACAAATTATGTGCTACTTAATGAGGACCACTAGGGGTCAGCAAATACTTTTTTTCCAAAATAGAAATTTCATATTGGTTTTGCTAATTAAAAATTACAACCTGGCTGGGCGCAGTTGCTCCTGCCTATAATCCCGGCACCTTGGGAGGCCAAGGGGGTAAGATTGCTTCAGCCAAGGAGTTCGAGACTGGGCAACAAAGTGAGACCCTCTGTCTCTACAAAAACTCCAAAAATTATTCAGGCATAGTAGCATGGACCTGTCTGGGCTACATGCGAGGCTGAGGCAGGAAGACCACTTGAGCCCAGGGTTGAGGCTGCAGTGAGCT 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CAACCACTCCCACAAGAGTCCTCCTCTCAAGCTCTGCTTCGAAGGAATCTGCCCTAAGATGGTAAGCCTGTGAGTAGAAGGATACCTTGACATGAAAAAAGACAGATGTAATTTCCAAAGTTTATCTTTTCTCCTCATTCAGTTTTAACATGACAAAGTCAAATTTTTGTAAATCTAAGAATGAGAATCAAAGTACTAAAACCAAAGCCATTTATCATGTGACTCTGTATCAAAGTAAATTATGTCATAATCAAAGATGAATTTTGTAAGAGAAAATTAAACTCCTCATTTTTATTGAAATAGAAACAGAACACTTTTAGTAAGATCTCTGCTAATCTGATACAACATTATTAGTAATGATCATTCTCGCACAATCTCTGTGCTAGACAGATGCTTACCTAGGAGTTGCAGGGCTGAATTTTTCTTCTCTTTCTATTTCCTTTCTTTGGATCAGAGGATTTTCAATTATCACTAAAACAGAGGGCAAAGTATGATGATATTACAAAACAGTAACAAGATAAACACTAACATCCTAAATAACATCCTGTTTAATTTATGATCATCATCGACTCTAGGCTTTAAAAATTCCTCACCTCATTCATCTTCTCCATCATCAACATATAACATATTTTGATACTGAGATGTCAAAATTGAAATCTTTATCTCCATATGTAACTAATATTCCAGCATTTATTCAAGGGATGTCTATAGCTATACTGGGCCCTATGAAGTTTGTGAAGCTTTCTGCCTTCATAGTCCATATGTTCAATGACCCTATTATTCAACTAGAGAGATACCATACATTGTCCTGAAAGTTAACAATACAAGGCAATATATGATTAGGTTCTAAATAACCGGTATGGGGAGTCAGCTGCTTGAGACCACAGTATTAAAGAGGAGTGTTTTCATTACCTGCATTACTCTTTTCTCTTTTTCTATCGTGAAGAACTAGTATACATGCTTTCTTGTTCCTTTTATGAGGCTAGGGCTCATAAAAGTTATCTGTTGAGTGACTAAGTTCCACACGTTATACTAGGTACACCATCTCATTTAATATTTACAAGAACCTAATGAGGTATTATTTCATAGTTGAGACCCAACAAGATTAAGAAATTTTCTCAAAGCCATGATGTAAGTCAATGTTGGAACTGGGATTTGAATCTAGACCTCTGTGTTTTCAAAGTCTCCTGTTCTTCCTACTATATGAGGCTGTTCTGTCAAAGAGATACTGGGGTGAGTAGATGTAAAAGATTTGGTATTTCAACTAAAAGTAAAGTTCCTTAAAATCCCATTAACAATTTAAATATCAGTTTTTATCAAAATCTATTCAGTGGTCAAATGTCAACTTTTATCAAAATATATTCAGTGGCTGTATTATATGTCTATAGAAAGATAACCAATTATAACAATAAAATGGGTTGGTGCAAATTGAAATATGTAATAAACCAAAGACAGTAAGGTTATTTAGTAAAAATATAACTATCACATTTGTATGCTTCAAATAACATTCTGAATGCCTCGCATTGCAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTACTCTGTGACTCAGGCTGGAGTGCAGAGGTACGATGTTGGCTCGCTGCAACCTCCACCTCCAGGGCTCAAGCCACCCTCCTGCTTCAGCCTCCTTAGTAGCTGGTACTACAGGCCCACGCCACCACACCCAGCTAATTTTTTGTAGAAATGGGGTCTTGCCATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCACGCAATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCCCACTGCATTATACTCTTAACACTTGACTTTTTCTGATAAAGTTCTTGAGAATTACGAACTGTGTCTCATTTCAACTCCTTCAGTATAGTTACCATAAACATACCACAGGAATAACACTATGATGGAAAAAGTTTAAGAATCAATGCCAACTTACCACAGTCACCAACCCTAAAGCTGTCAGAAAGAGACTTGATGTAATCTTCATTGCCCCAGGAAGCTGCAATTACAAAATGTGCTGGTGAATCCCGAATGGTGAAGCTGAAAGTGTACCTTTCTGATCCAATATCTAAGGGAAAACCAATGCTTTTATTTTTCAAATGAAGAGTTTCAATCGCTTCTCTGCCTTTTGATAAGTGTTACATGAAAAGTTTCATTTCAATTATAAACAAATGATTATTTGTTTAATCAAATAACTATTGATTATGATAATAAAAATACTCAAATACATAGTACAAAATGTTCTTTCAGATGTATATTCTATAACATGCTTCTATGAATTTCAAGCTGAAGTGGTAACAGGTTGCCCCCTTGCTCCCTTCCCTGGTGATCTGTGTATTTGGAGGGAAAAACATGTAAACTTGAGCCATCCAGGTATTACCTTAGGTTCTCCTTTTCTCTCTTACTGTTGTTTCAACCTAAGTCATAATTCAGATCTAAATAGTTATTTCAGTCCCAGCTACTTAGGAGGATGAAGCAGAATGACTGCTTAAGCCCAAAAGTTCAAGGCTTCAGCGAACTGTGATTGCCCCACTGCTCTCCAGCCTGGGCAACAGAGCAAGACCCCGTCCCAAAAATAAAAGTAAAAATAGGCCGGGCGCAATGGCTCACGCCTGTAATCCTAACACTTTGGGAGCCCGAGGCGGGTGGATCACCTGAGGTTAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAACTTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCCAGCCTGGGTGACAAGAGAAAAACTCTTGTCTCAAAAATAAATAAATAAATAATAATAAAATAAAAATAAAAATTGGCCAGGCACAACAGCTTACCCCTGTGATCCCAGGACTTTGGGAGGTGAGGTAGGAGAATCACTTGAGGCCTGGAGTTCAAAACCAGCCTGGGCAACATAGAAGGACACCATCTCTACAGAAAATTTTAAAATTAGTGGTGGCACTCATCTTTAGTCTCAGCTACTTGGGAGGCTGAGGAGGAAAGGTTGCTTGAGCCCAGTTTAAGTGTGCGGTGAGCTTTGAATGCACCACTGCACTCCAGCCTGGGAAGAATGAGTTCAGGGTGTTCATGAAATGTACACCCAGGCTGGAGTTCAGTGACGCGATCTCTCGGCTCACTGCAACCCCTGCCTCCCAGCAGCTGGGACTCAGCCTCCTGAGCAGCTGGGGCTACAGACGCACACCACCATGCCAGGCTAATTTTTGTTTTTTGTTTTTTTTTTAGTAAAAACGGGTTTCGTTTTTGTTTGTTTTTGAGACGGAGTTTCGCTCTTGTTACCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACAGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTGTACTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCATGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGCATGAGCCACCGTGCCTGATGAGACAAGGTTTTTTAGTAGAGGTGGGGAAGAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAATAAATTTTAAAAATAATTAAAATAAGTTATTTCAAAACAAATTATGTGCTACTTAATGAGGACCACTAGGGGTCAGCAAATACTTTTTTTCCAAAATAGAAATTTCATATTGGTTTTGCTAATTAAAAATTACAACCTGGCTGGGCGCAGTTGCTCCTGCCTATAATCCCGGCACCTTGGGAGGCCAAGGGGGTAAGATTGCTTCAGCCAAGGAGTTCGAGACTGGGCAACAAAGTGAGACCCTCTGTCTCTACAAAAACTCCAAAAATTATTCAGGCATAGTAGCATGGACCTGTCTGGGCTACATGCGAGGCTGAGGCAGGAAGACCACTTGAGCCCAGGGTTGAGGCTGCAGTGAGCT 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Task1_train_22064 | This variant impacts the gene HS3ST6 (heparan sulfate-glucosamine 3-sulfotransferase 6) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Angioedema, hereditary, 8 | AAGGAAGCGTCCACTGCGCACCTGGATTCCGGATGAGCCAAGGTGGTGGGTGCGGACCCGACTTTAATCCTGCCCCACCACTCCACAGCGAGGCCTGCAGCCTCACTTTCCTCATCCTGAACATGAGGACAGCCCTGCCCAGCCTCCCAGGGCTGAGAAGAGAGCCTGAGCATGGCCCCCAGCATCACTAGGGCTAAGCTGCATGTCGCTGGGCGGGCCCTACGCCTCTCCGAGCTCACAGGCTAGACCTGACCAGGCGCACTGCCCACCTCTGAGGGTGTATAAAGAATGAGTTTTGGGCCAGGTGTGGTGGCTCCTGCCTGTAATCCCAGCACTTTGGGAAGCCAAGATGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACCAAAAAAAATTAGCTGGGCATGTTGGCGCATGCCTGTAATCCCAGCTACCTGGGAGGCTGAGGTAGGAAAATCGCTGGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCCACAGAGGGTGACTCTGTCCTAAGAAAAAATTAAAATTGGCTGGGTGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGAGTGGATCACCAGGTCAGGAGATACAGACCATCCTGGCTAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAAAACACAAAATTACCCAGGTGTGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCACACCACTGCACTCCAGCATGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAATAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATCACGAGGTCAGGAGATCGTAGCCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGTCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCGATCTCAAAAAAAAAAAAAAAAAAAAAGTGCGACACGAGGCACACAGTCAGTGCCCAGTGGAGTTCGCTGATATGGTTACCACATCCCTGGGGACAGCGCCTCCACCCTCCAACCTCGAGGTTTGTGGAAAAATCTGGGTCCAAGCTTTATTTCTTAAATATTCCTCTCTGCCCAGCATGTGCACGCAGCCCGCTCTGGCCAGGCGAGCGGGTGTCAATCAAGGTGCTGAGCATCCCCAGGGTGCCGCTCAGCCCCAGCCGAAGTCCTGGCCCGTCATCTGGTAGAACCTGCGGTTGAAGGGCCGGTAGAACTCCTGCAGGCGCCGGACCAGGGCCTGGGGCACGCGTGGGTGTGGCCGGCCCTTGGACTTGCCCAGGCAGCGGGGACGGCTGCCGCCCTGGGCCTTCTTGAGGCAGGGGAAGCCCTTGGTGGCGTTGAAGTAGAAGTGCTTGTCCGTGACGACCCGTTTCAGGCCCAGGAAGTCCTGCACGCGGCCGACCTCTCCGGCCGGGTCGCTGACCAGACGCTCCCCGCTGACGAACAGGAAGTGGGACAGGGGGAAGTAGCGCAGCCAGTGGTCCAGGTGCTGGGCGTACAGGCCGATGCGGACGGCGCTCCAGGCTGTGTCCACGGGGCCCAGGCCGTGGCGGAAGGCCAGGGCGCGGAAGCTGGGCAGGCCCGGGGTCTTGGAGAGCGTCTGGGCGTAGTCGGAGATGGCCCGGGTCACGGGGTTCCGCACCACCACGATCAGCTTCGTGTCCGGGGACATGGCGTGGATGCGGCGGGGGGCCTCTCGCGTCACGAAGTAGCTGGGGGTCTTCTCCATGGTGATCTGCCCATCCAGGGTTCGGGGCATCAGACTCCTGCGGGACGGGTGCAAGGAGAGGGGGCCTGAGCCTCCCCAGCCCTAGACCGGCCCCCAGGGGCCCGGGACCAAGGCCCCCTTATGCCCGGGAAGCCCAGGCCTCCAGGGCGAGCAAGTCTTCCTCCCTGCTCGGGCCCACCCCTGCTAGCGTGCGCGGCTGGGCAGCCTGGAACATGGACTGTGAGGGTGCCCAGCCCGGCACCTGCCTGCAGCCCGGCCTGTTCCGCCGGCCTGCCCCGCCTGCTGCTGCACTGAGGATTAGGGTGACGGTCGCTGGTCGGGAGGCCCAAATGCTCCTCACCACCCACATATCTTCCCTGTGCAATCCCTGCCGTCCTCGCTTCCAGAGCCAGCTCCCTCCCACCGGACCCACACTTTCCTGGAACTAGGCTGCCCCCAGCTCCTTTCTCATCCCAGACCAAGTACCCCGAGGCCCGCCCGCCTAGATCACTTGAGGTCACCCGTTCACTCAGTGGCTGACAGCATCCCCTAAATCAGCCCTTCACCAATTATTGACAGTGTGTCCTCAACCAAAAGTAGTCCTCCCTGCTCCCTCCCTCCCCTGATGTAATTACATCTCTTCCCATCTTTATTTATTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTTTCCTGCCTCAGCCCCCGGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGGCTGGCCTCTCTCCCCGTCTTTAACTGTAGCCCTGTGAATTCTCATCAGCCTGGGCCTGGACTCAGCAGGCCAAAAAGTTACCAGCAGAGCCCAGCACATGTGAGGAAAGTCGGAGACGTGGCGGCGCCGGCCGGAGGATCCTTCCCAAGACCCTGGGCCGCTGTGGCCCCCTAGATCTTGCAGGTTGCCAGGGTGCCAGGCCAGGGAGGGGGCCTTTCTGAGATTCTCCTCATTCTGACACAGGAGAGGAGGGCACTGACCCAGTCCCAAGGTCCCGGGGGAATCAGCCGACCACAGCCCAGGACTGTCCCACCTGGGCAGAGAGCCCATTCTGGGTGCCCAGCCCGGGCAGGCCCAGGCACCCCCAGCAGTGCCCCGGGCAGCACCTGCCAGCCAGGTAGTGCAGGGTGAGGTTGGGCAGGGCAGGGCGTGGTAGGTCAGCTGAGCAAACAGCTCGGAGGGAGAGCTGGGGAGGGCTGGGAACTAGGTCGATAGAAACACAGGGACTGTGTTAGGGAGGGGATGCCTTGCCAGTCACGCCCAGCCCTGACTCCTGCCCTCTGAGGGGGCTTCCCCCACCCCTGCTGACAGCCCCAGGACCGGCCCCTGCCAGGAGGCTGACCTGCCAGGAGTGACCGCCCCAGACTTGAGCCCTTGGGAGGCAGGTTCTGAGTCCCCTTTTCCTGCTCAGACCCCCAGGGAAACGCAGGCTGGGCCAGAGGCAGCTGCACAGACCCCTGCAGTGGGGTGCTCGGTGGAGAGCGCTGGAGGTGGGAGGGAGGATGTGTGAGGCAGCGGGAGAGAATCCAGGCTTCCCCCACAACACCCACCATGAGCGGTGCAGAGTAGGGGTGGGCGGCACGGGAGCCTTCCCACCCCGCAGAACCAGGCCCTGGGCAGAGCTGGCCTACAGACGATACCGGACAAGTCCTCCTCCGTCTTGGTGACAGAGGGAGCTGGGACTCCCTCCACCCACCCACTGCCACTTCAGAAGCAGCCACAGGGAGACTGGGAGGGGCAGGGGTGCTGGGGATGAGCGTGGGGCTCAGCCCTCCCTCTTCCCACCCTGGAGGGCTGCCTCCTTCCAGCCCACCTGGAAGGGTGGTGTCAGTCCCAGAGCCCCTGCACTCCCCGCCCCACCTCCTGCAGCT 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AAGGAAGCGTCCACTGCGCACCTGGATTCCGGATGAGCCAAGGTGGTGGGTGCGGACCCGACTTTAATCCTGCCCCACCACTCCACAGCGAGGCCTGCAGCCTCACTTTCCTCATCCTGAACATGAGGACAGCCCTGCCCAGCCTCCCAGGGCTGAGAAGAGAGCCTGAGCATGGCCCCCAGCATCACTAGGGCTAAGCTGCATGTCGCTGGGCGGGCCCTACGCCTCTCCGAGCTCACAGGCTAGACCTGACCAGGCGCACTGCCCACCTCTGAGGGTGTATAAAGAATGAGTTTTGGGCCAGGTGTGGTGGCTCCTGCCTGTAATCCCAGCACTTTGGGAAGCCAAGATGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACCAAAAAAAATTAGCTGGGCATGTTGGCGCATGCCTGTAATCCCAGCTACCTGGGAGGCTGAGGTAGGAAAATCGCTGGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCCACAGAGGGTGACTCTGTCCTAAGAAAAAATTAAAATTGGCTGGGTGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGAGTGGATCACCAGGTCAGGAGATACAGACCATCCTGGCTAACATGGTGAAACCCTGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAAAACACAAAATTACCCAGGTGTGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCACACCACTGCACTCCAGCATGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAATAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATCACGAGGTCAGGAGATCGTAGCCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGTCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCGATCTCAAAAAAAAAAAAAAAAAAAAAGTGCGACACGAGGCACACAGTCAGTGCCCAGTGGAGTTCGCTGATATGGTTACCACATCCCTGGGGACAGCGCCTCCACCCTCCAACCTCGAGGTTTGTGGAAAAATCTGGGTCCAAGCTTTATTTCTTAAATATTCCTCTCTGCCCAGCATGTGCACGCAGCCCGCTCTGGCCAGGCGAGCGGGTGTCAATCAAGGTGCTGAGCATCCCCAGGGTGCCGCTCAGCCCCAGCCGAAGTCCTGGCCCGTCATCTGGTAGAACCTGCGGTTGAAGGGCCGGTAGAACTCCTGCAGGCGCCGGACCAGGGCCTGGGGCACGCGTGGGTGTGGCCGGCCCTTGGACTTGCCCAGGCAGCGGGGACGGCTGCCGCCCTGGGCCTTCTTGAGGCAGGGGAAGCCCTTGGTGGCGTTGAAGTAGAAGTGCTTGTCCGTGACGACCCGTTTCAGGCCCAGGAAGTCCTGCACGCGGCCGACCTCTCCGGCCGGGTCGCTGACCAGACGCTCCCCGCTGACGAACAGGAAGTGGGACAGGGGGAAGTAGCGCAGCCAGTGGTCCAGGTGCTGGGCGTACAGGCCGATGCGGACGGCGCTCCAGGCTGTGTCCACGGGGCCCAGGCCGTGGCGGAAGGCCAGGGCGCGGAAGCTGGGCAGGCCCGGGGTCTTGGAGAGCGTCTGGGCGTAGTCGGAGATGGCCCGGGTCACGGGGTTCCGCACCACCACGATCAGCTTCGTGTCCGGGGACATGGCGTGGATGCGGCGGGGGGCCTCTCGCGTCACGAAGTAGCTGGGGGTCTTCTCCATGGTGATCTGCCCATCCAGGGATCGGGGCATCAGACTCCTGCGGGACGGGTGCAAGGAGAGGGGGCCTGAGCCTCCCCAGCCCTAGACCGGCCCCCAGGGGCCCGGGACCAAGGCCCCCTTATGCCCGGGAAGCCCAGGCCTCCAGGGCGAGCAAGTCTTCCTCCCTGCTCGGGCCCACCCCTGCTAGCGTGCGCGGCTGGGCAGCCTGGAACATGGACTGTGAGGGTGCCCAGCCCGGCACCTGCCTGCAGCCCGGCCTGTTCCGCCGGCCTGCCCCGCCTGCTGCTGCACTGAGGATTAGGGTGACGGTCGCTGGTCGGGAGGCCCAAATGCTCCTCACCACCCACATATCTTCCCTGTGCAATCCCTGCCGTCCTCGCTTCCAGAGCCAGCTCCCTCCCACCGGACCCACACTTTCCTGGAACTAGGCTGCCCCCAGCTCCTTTCTCATCCCAGACCAAGTACCCCGAGGCCCGCCCGCCTAGATCACTTGAGGTCACCCGTTCACTCAGTGGCTGACAGCATCCCCTAAATCAGCCCTTCACCAATTATTGACAGTGTGTCCTCAACCAAAAGTAGTCCTCCCTGCTCCCTCCCTCCCCTGATGTAATTACATCTCTTCCCATCTTTATTTATTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTTTCCTGCCTCAGCCCCCGGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGGCTGGCCTCTCTCCCCGTCTTTAACTGTAGCCCTGTGAATTCTCATCAGCCTGGGCCTGGACTCAGCAGGCCAAAAAGTTACCAGCAGAGCCCAGCACATGTGAGGAAAGTCGGAGACGTGGCGGCGCCGGCCGGAGGATCCTTCCCAAGACCCTGGGCCGCTGTGGCCCCCTAGATCTTGCAGGTTGCCAGGGTGCCAGGCCAGGGAGGGGGCCTTTCTGAGATTCTCCTCATTCTGACACAGGAGAGGAGGGCACTGACCCAGTCCCAAGGTCCCGGGGGAATCAGCCGACCACAGCCCAGGACTGTCCCACCTGGGCAGAGAGCCCATTCTGGGTGCCCAGCCCGGGCAGGCCCAGGCACCCCCAGCAGTGCCCCGGGCAGCACCTGCCAGCCAGGTAGTGCAGGGTGAGGTTGGGCAGGGCAGGGCGTGGTAGGTCAGCTGAGCAAACAGCTCGGAGGGAGAGCTGGGGAGGGCTGGGAACTAGGTCGATAGAAACACAGGGACTGTGTTAGGGAGGGGATGCCTTGCCAGTCACGCCCAGCCCTGACTCCTGCCCTCTGAGGGGGCTTCCCCCACCCCTGCTGACAGCCCCAGGACCGGCCCCTGCCAGGAGGCTGACCTGCCAGGAGTGACCGCCCCAGACTTGAGCCCTTGGGAGGCAGGTTCTGAGTCCCCTTTTCCTGCTCAGACCCCCAGGGAAACGCAGGCTGGGCCAGAGGCAGCTGCACAGACCCCTGCAGTGGGGTGCTCGGTGGAGAGCGCTGGAGGTGGGAGGGAGGATGTGTGAGGCAGCGGGAGAGAATCCAGGCTTCCCCCACAACACCCACCATGAGCGGTGCAGAGTAGGGGTGGGCGGCACGGGAGCCTTCCCACCCCGCAGAACCAGGCCCTGGGCAGAGCTGGCCTACAGACGATACCGGACAAGTCCTCCTCCGTCTTGGTGACAGAGGGAGCTGGGACTCCCTCCACCCACCCACTGCCACTTCAGAAGCAGCCACAGGGAGACTGGGAGGGGCAGGGGTGCTGGGGATGAGCGTGGGGCTCAGCCCTCCCTCTTCCCACCCTGGAGGGCTGCCTCCTTCCAGCCCACCTGGAAGGGTGGTGTCAGTCCCAGAGCCCCTGCACTCCCCGCCCCACCTCCTGCAGCT 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Task1_train_22065 | Mutation context: Chromosome 16, Gene RPL3L (ribosomal protein L3 like). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cardiomyopathy, dilated, 2D | TCTTTCTTTCTTTCTTTCTTTTGAGACGGAGTCTTACTCTGTTTCCAGGCTGGAGTGCAGTAGCGCGATCTCAGCTCACTGCAACCTCCAACTCGCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGATGGGATTACAATCATGCGCCACCACGCCCAGCTAATTTTGTATTTTTAATAGAGACGAGGTTTCTCGATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAGTTTATAGTTTAAAACAAAGACAGTAACAGCCCTTTCCCAAAGCAGACCACCTCCTTGCCTGGGGACTAGATTGCATTTTTAGGACTAACATTAGCCACAATATTGGGAATTATGGTTTAGGAGTCGTGCATCTGGAGGCTACAAGATTCTGACCCTCCCTAAGCTGCCCCTAAGATCAGTGCTTGAGATATTTTGCCGACCCTGCAACTTGATGGATCTGCTGGCACCAACCAGATTGATAAACTGGCTCATCTGATCTTGTGGCCACCACCCAGGAGCTGACTCAGCGCAAGAAGACAGCTGACTCCCTGTGATTTCCTCCCTGACCAATCGGCTCTCCTGGCTCACTGGCTCTCCCCACCCGCCAAGTTATCCTTAAAAACTCTGCTCCCCGGCACTCCAGCAGCCTGGGCGACAAGATCAAGACTCTCTCAAAAAAAAAAAAAAAAAAAACCTCTGCTCCGCAAATGCTCAAAGAGATCGATTTGAGTAATAATAAAACATAAAACTCCGGTCTCCCGCACAGCCAGCTCTGTGTGAATTACTCTTTCTCTATTGCAATTCCCCTGTCTTAATGAATCGGCTTTGTCTAGGCAGCAGGCAAGGTGAACCCCTTGGGCGGTTACACAGCGCTCTGAGACCTCGCAGGAAGAGTCGCCTCCGGCCTTTGTTAGACATTGGGGCAGACAGTGCGGTGCGCTTCAGGGTTCATCCACCCCACACAGCCTACAAGTCTCCCGAGGTCTCCGGCGTTTCCTTCTCCAGATGCTTCTTTTGGGGGCCCTGGTTGAGAGGGTGGTGCAGGAGGAGCCTTAGTCACTCTGGCCAGAAACACGCCCTCCCCCAGCCAGGCTCTAGATCACTCAGGGCCGGCCCTACTGCCCCCCTAAGGCTGCTTCCTCCCCCACCTTCTCTTCTAAAGAATCAGTGCCCAGGGATAGACCCTTAAGAGTCTCTCCTGCAGGCCGGGCACGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGTCGGATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAATACGATGAAACCCCATCCCTACTAAAAATACAGAAAATTAGCCTGGCGTGGTGGCACGTGCCTGTAGTACCAACGACTGGGTAGGCTGAATCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTGGCAGTGAGCCAAGATCACGGCACAGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATAAAATAAATAAAAAAAAAAGAGTCTCTCCTGCAGTTGAGCTCAGGGGAGTCCCTGCCAGCTCCAGCTCCCTACTCGGGCAGGCTGGATGTGGAGCTGGAGCCCCAGAGAAGAACAAGGATGGGGGCGGTGAGCTCACCATGAAGGCCCTCTTCTCTTGGGCTGTCTGGAAGCGGCCATGGCCGAACTTGGAGGTGGTGTCAATGAACTTGAGCTCAATATTCTCCACGGCTTGGCGACTGTGATGCACCAGGAGGGACTGGGGAATCCATGGTAAAGTAAACATCAAGTGTGGGGATCCCCCACACCCTGCTGTGAACCTCCAAGCCCCACCAGGAAGGTCTTGCTCACCTAGTTCCTACCAGAGCCCTCCCCTTCTGCTCCCACCACTCCATCCCGCTCGTAGCAGGCCGCAGGGCAGGACAGGCTGGCAGCCCTCGGGCACCCACTCCCCAGCCCACCCAGCACTGCCAACCTTTCTCAGCGTAATGACCCGCTTCTTGGTACCAGCAATACAACCCTTCAGCATGACGAAGTCGTTGTTCACTTCCCCGTAGTGGGGGAAGCCACCCTGCAGAGGACACAGGTCAGAGGCCAGGCCCGGAAAGGGCTTCTGAGTTAGTGGGTGGCTGGGGGCCCTAGCAGAACCCCCAGAGGGGGCAGTGATAGGCAGGAGCCCCGTGCCCAGCCCCCAGATGTAGGGGTGACTATCACGCCGCCCCTACTGAGGGCAGCATCTGAGTCACAAGCTAAGTCCTTTTCATGCATTATCTCACTTGACAGTCTGCATTTTTGTTGGGGGAGACTGAGGATCAGAGGAGTGGAGTCACTTGCTCCAGCCTCTACAGCTGCTAAGTCCTGGAGATGCGGTTTGAGCCCAGGTGGCCTGACTCCCAGGCCACAGTAGGAGCTGCCGCACTCCACACCCACATGACAGCAGCTGGAGTGGAAGCTGCCTCCAGAGGAGGCTCGGAGGATGTGGGACGCAGCAGAGATTTCTTGCTTGTGACTATATCCAAATGTTTTGGACAGCCAAGGCAAGGGTCCCACATCACTGCCCAGCTGTCAAGGTCTTCTGTCCAGTGTGCCTGGCGGGGCAGCGTCCAGCTGTGGGGCAAAAATCTTGAGCCCTTGGGGCAGGGAGCGTCCAGCTGAGGCTGGGGCATGCCCCCTACATGTATACCAGGCCCCCCGGCCAGCCTGACCCCACTCCAGCCATCATCAGCGGTGTGATGGGCCTGGCAGTCGCCCCCTCCCAGCCTCACCAGCGGTGTGATGGACTTGGCAGTCACGTCGTAGCTGGTGGATGCATTGTTCTTCACCAGCTTCCCGTCCTCCATGTGCGGGCCCCTGCCGATGCGGAAGATCTGCCAGAAGGGGGCACATGCCAGGGGCAGGAAGTGGCCTCTGAGGCCAGCAGCCCATCCAGGCCCATCCGCCCACATGCTCAGACTCAGTGCTGGTGGGGGCATCTTGTGTCCCCGGCAGTGTCTGGGTCATGCACCCCACCCACTGAGGCCAGTACTGAGGGCTGGGGTCCGACCACACAGTGTCCCCGTACCCCGGCTGAGGACGCACCTTCTTGTTGAGCTCCGTGCGGTGGTGATAGCCCTTCTGCCCGGCCCGAGCAATGGAGCAGCCCACGCGGGCGGGGTGCCAGGCGCCAATGCAGGCCACCTTGCGCAGGCCCTTATGGGTCTTCCGCGGCAGCTTCTTGGTATGCCAGCGGCTTGTGACCCCTGTGAGTGAGAGGGGCTGGTGGCTGAGAGGCCAGGCTGGTCCCCACTGCCTCCAGGCAGCCTGCCCTGGAGCTGCCATCCTCACTGAGCCCTACCTTTGACGCCTCGACCCTTGGTGACAGCAATGACATCAATGACCTCACTCTGGCTGAACACGCTGTGCACGGGCACCTGCTTCTCCAGCCGGGCCTGGGCCCAGGCCACCTTCTCGGCCACCGTGCCACCGTTCAGCTGGATCTCCATGATGTGGGCCTTCTTCTGCCGGAAGGGCAGCAGTTTCATCTGCAGGACATGGCCGGAGGTCACGCCACGGCCCACGGGATCACACCCCCACCTGAAACATGGCATGGCCAGCAGTGACCCCTGCCGCCTTCCACGCATGCATTCATTCACAGGTGTTCCCAGGATCAGGTTGCAACCCATGTGTTGTGCTAGGCACTGCGGATCCGGTGCAGAATGAGGCAGACAGAGTCCCACACCTCGGGAGCCACCATCTCACTGGGGGACAGAAGGAAACCAAGTAACTCTTGGAGAGGACAGAGTGCTCTGATGGGCTATGGGGGCTGGTGTTTCAGATACAGTGGTCAGGGCAGAGAGGGCTTCTCTGAGAAGGTGCCGCTGCTAACAAGTAGGAGCCACGAGGCAAACATTGGAGAGGCTCTGGGCAGCAGGACCCCGCATTTGCACAGGCCTGGTGGCAGAGGAGGCCTTGGAAAGTTGGTGGGACAGAGAGGAGACCAGTGTGGGCAGACGGTGGGGAGCAAGGGGCGTGGGCCAGCACCTGGGAGTGGGGAGCTCGGACTT 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TCTTTCTTTCTTTCTTTCTTTTGAGACGGAGTCTTACTCTGTTTCCAGGCTGGAGTGCAGTAGCGCGATCTCAGCTCACTGCAACCTCCAACTCGCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGATGGGATTACAATCATGCGCCACCACGCCCAGCTAATTTTGTATTTTTAATAGAGACGAGGTTTCTCGATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAGTTTATAGTTTAAAACAAAGACAGTAACAGCCCTTTCCCAAAGCAGACCACCTCCTTGCCTGGGGACTAGATTGCATTTTTAGGACTAACATTAGCCACAATATTGGGAATTATGGTTTAGGAGTCGTGCATCTGGAGGCTACAAGATTCTGACCCTCCCTAAGCTGCCCCTAAGATCAGTGCTTGAGATATTTTGCCGACCCTGCAACTTGATGGATCTGCTGGCACCAACCAGATTGATAAACTGGCTCATCTGATCTTGTGGCCACCACCCAGGAGCTGACTCAGCGCAAGAAGACAGCTGACTCCCTGTGATTTCCTCCCTGACCAATCGGCTCTCCTGGCTCACTGGCTCTCCCCACCCGCCAAGTTATCCTTAAAAACTCTGCTCCCCGGCACTCCAGCAGCCTGGGCGACAAGATCAAGACTCTCTCAAAAAAAAAAAAAAAAAAAACCTCTGCTCCGCAAATGCTCAAAGAGATCGATTTGAGTAATAATAAAACATAAAACTCCGGTCTCCCGCACAGCCAGCTCTGTGTGAATTACTCTTTCTCTATTGCAATTCCCCTGTCTTAATGAATCGGCTTTGTCTAGGCAGCAGGCAAGGTGAACCCCTTGGGCGGTTACACAGCGCTCTGAGACCTCGCAGGAAGAGTCGCCTCCGGCCTTTGTTAGACATTGGGGCAGACAGTGCGGTGCGCTTCAGGGTTCATCCACCCCACACAGCCTACAAGTCTCCCGAGGTCTCCGGCGTTTCCTTCTCCAGATGCTTCTTTTGGGGGCCCTGGTTGAGAGGGTGGTGCAGGAGGAGCCTTAGTCACTCTGGCCAGAAACACGCCCTCCCCCAGCCAGGCTCTAGATCACTCAGGGCCGGCCCTACTGCCCCCCTAAGGCTGCTTCCTCCCCCACCTTCTCTTCTAAAGAATCAGTGCCCAGGGATAGACCCTTAAGAGTCTCTCCTGCAGGCCGGGCACGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGTCGGATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAATACGATGAAACCCCATCCCTACTAAAAATACAGAAAATTAGCCTGGCGTGGTGGCACGTGCCTGTAGTACCAACGACTGGGTAGGCTGAATCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTGGCAGTGAGCCAAGATCACGGCACAGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATAAAATAAATAAAAAAAAAAGAGTCTCTCCTGCAGTTGAGCTCAGGGGAGTCCCTGCCAGCTCCAGCTCCCTACTCGGGCAGGCTGGATGTGGAGCTGGAGCCCCAGAGAAGAACAAGGATGGGGGCGGTGAGCTCACCATGAAGGCCCTCTTCTCTTGGGCTGTCTGGAAGCGGCCATGGCCGAACTTGGAGGTGGTGTCAATGAACTTGAGCTCAATATTCTCCACGGCTTGGCGACTGTGATGCACCAGGAGGGACTGGGGAATCCATGGTAAAGTAAACATCAAGTGTGGGGATCCCCCACACCCTGCTGTGAACCTCCAAGCCCCACCAGGAAGGTCTTGCTCACCTAGTTCCTACCAGAGCCCTCCCCTTCTGCTCCCACCACTCCATCCCGCTCGTAGCAGGCCGCAGGGCAGGACAGGCTGGCAGCCCTCGGGCACCCACTCCCCAGCCCACCCAGCACTGCCAACCTTTCTCAGCGTAATGACCCACTTCTTGGTACCAGCAATACAACCCTTCAGCATGACGAAGTCGTTGTTCACTTCCCCGTAGTGGGGGAAGCCACCCTGCAGAGGACACAGGTCAGAGGCCAGGCCCGGAAAGGGCTTCTGAGTTAGTGGGTGGCTGGGGGCCCTAGCAGAACCCCCAGAGGGGGCAGTGATAGGCAGGAGCCCCGTGCCCAGCCCCCAGATGTAGGGGTGACTATCACGCCGCCCCTACTGAGGGCAGCATCTGAGTCACAAGCTAAGTCCTTTTCATGCATTATCTCACTTGACAGTCTGCATTTTTGTTGGGGGAGACTGAGGATCAGAGGAGTGGAGTCACTTGCTCCAGCCTCTACAGCTGCTAAGTCCTGGAGATGCGGTTTGAGCCCAGGTGGCCTGACTCCCAGGCCACAGTAGGAGCTGCCGCACTCCACACCCACATGACAGCAGCTGGAGTGGAAGCTGCCTCCAGAGGAGGCTCGGAGGATGTGGGACGCAGCAGAGATTTCTTGCTTGTGACTATATCCAAATGTTTTGGACAGCCAAGGCAAGGGTCCCACATCACTGCCCAGCTGTCAAGGTCTTCTGTCCAGTGTGCCTGGCGGGGCAGCGTCCAGCTGTGGGGCAAAAATCTTGAGCCCTTGGGGCAGGGAGCGTCCAGCTGAGGCTGGGGCATGCCCCCTACATGTATACCAGGCCCCCCGGCCAGCCTGACCCCACTCCAGCCATCATCAGCGGTGTGATGGGCCTGGCAGTCGCCCCCTCCCAGCCTCACCAGCGGTGTGATGGACTTGGCAGTCACGTCGTAGCTGGTGGATGCATTGTTCTTCACCAGCTTCCCGTCCTCCATGTGCGGGCCCCTGCCGATGCGGAAGATCTGCCAGAAGGGGGCACATGCCAGGGGCAGGAAGTGGCCTCTGAGGCCAGCAGCCCATCCAGGCCCATCCGCCCACATGCTCAGACTCAGTGCTGGTGGGGGCATCTTGTGTCCCCGGCAGTGTCTGGGTCATGCACCCCACCCACTGAGGCCAGTACTGAGGGCTGGGGTCCGACCACACAGTGTCCCCGTACCCCGGCTGAGGACGCACCTTCTTGTTGAGCTCCGTGCGGTGGTGATAGCCCTTCTGCCCGGCCCGAGCAATGGAGCAGCCCACGCGGGCGGGGTGCCAGGCGCCAATGCAGGCCACCTTGCGCAGGCCCTTATGGGTCTTCCGCGGCAGCTTCTTGGTATGCCAGCGGCTTGTGACCCCTGTGAGTGAGAGGGGCTGGTGGCTGAGAGGCCAGGCTGGTCCCCACTGCCTCCAGGCAGCCTGCCCTGGAGCTGCCATCCTCACTGAGCCCTACCTTTGACGCCTCGACCCTTGGTGACAGCAATGACATCAATGACCTCACTCTGGCTGAACACGCTGTGCACGGGCACCTGCTTCTCCAGCCGGGCCTGGGCCCAGGCCACCTTCTCGGCCACCGTGCCACCGTTCAGCTGGATCTCCATGATGTGGGCCTTCTTCTGCCGGAAGGGCAGCAGTTTCATCTGCAGGACATGGCCGGAGGTCACGCCACGGCCCACGGGATCACACCCCCACCTGAAACATGGCATGGCCAGCAGTGACCCCTGCCGCCTTCCACGCATGCATTCATTCACAGGTGTTCCCAGGATCAGGTTGCAACCCATGTGTTGTGCTAGGCACTGCGGATCCGGTGCAGAATGAGGCAGACAGAGTCCCACACCTCGGGAGCCACCATCTCACTGGGGGACAGAAGGAAACCAAGTAACTCTTGGAGAGGACAGAGTGCTCTGATGGGCTATGGGGGCTGGTGTTTCAGATACAGTGGTCAGGGCAGAGAGGGCTTCTCTGAGAAGGTGCCGCTGCTAACAAGTAGGAGCCACGAGGCAAACATTGGAGAGGCTCTGGGCAGCAGGACCCCGCATTTGCACAGGCCTGGTGGCAGAGGAGGCCTTGGAAAGTTGGTGGGACAGAGAGGAGACCAGTGTGGGCAGACGGTGGGGAGCAAGGGGCGTGGGCCAGCACCTGGGAGTGGGGAGCTCGGACTT 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Task1_train_22066 | Consider this mutation in RPL3L (ribosomal protein L3 like) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Cardiomyopathy, dilated, 2D | AATAAAACATAAAACTCCGGTCTCCCGCACAGCCAGCTCTGTGTGAATTACTCTTTCTCTATTGCAATTCCCCTGTCTTAATGAATCGGCTTTGTCTAGGCAGCAGGCAAGGTGAACCCCTTGGGCGGTTACACAGCGCTCTGAGACCTCGCAGGAAGAGTCGCCTCCGGCCTTTGTTAGACATTGGGGCAGACAGTGCGGTGCGCTTCAGGGTTCATCCACCCCACACAGCCTACAAGTCTCCCGAGGTCTCCGGCGTTTCCTTCTCCAGATGCTTCTTTTGGGGGCCCTGGTTGAGAGGGTGGTGCAGGAGGAGCCTTAGTCACTCTGGCCAGAAACACGCCCTCCCCCAGCCAGGCTCTAGATCACTCAGGGCCGGCCCTACTGCCCCCCTAAGGCTGCTTCCTCCCCCACCTTCTCTTCTAAAGAATCAGTGCCCAGGGATAGACCCTTAAGAGTCTCTCCTGCAGGCCGGGCACGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGTCGGATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAATACGATGAAACCCCATCCCTACTAAAAATACAGAAAATTAGCCTGGCGTGGTGGCACGTGCCTGTAGTACCAACGACTGGGTAGGCTGAATCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTGGCAGTGAGCCAAGATCACGGCACAGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATAAAATAAATAAAAAAAAAAGAGTCTCTCCTGCAGTTGAGCTCAGGGGAGTCCCTGCCAGCTCCAGCTCCCTACTCGGGCAGGCTGGATGTGGAGCTGGAGCCCCAGAGAAGAACAAGGATGGGGGCGGTGAGCTCACCATGAAGGCCCTCTTCTCTTGGGCTGTCTGGAAGCGGCCATGGCCGAACTTGGAGGTGGTGTCAATGAACTTGAGCTCAATATTCTCCACGGCTTGGCGACTGTGATGCACCAGGAGGGACTGGGGAATCCATGGTAAAGTAAACATCAAGTGTGGGGATCCCCCACACCCTGCTGTGAACCTCCAAGCCCCACCAGGAAGGTCTTGCTCACCTAGTTCCTACCAGAGCCCTCCCCTTCTGCTCCCACCACTCCATCCCGCTCGTAGCAGGCCGCAGGGCAGGACAGGCTGGCAGCCCTCGGGCACCCACTCCCCAGCCCACCCAGCACTGCCAACCTTTCTCAGCGTAATGACCCGCTTCTTGGTACCAGCAATACAACCCTTCAGCATGACGAAGTCGTTGTTCACTTCCCCGTAGTGGGGGAAGCCACCCTGCAGAGGACACAGGTCAGAGGCCAGGCCCGGAAAGGGCTTCTGAGTTAGTGGGTGGCTGGGGGCCCTAGCAGAACCCCCAGAGGGGGCAGTGATAGGCAGGAGCCCCGTGCCCAGCCCCCAGATGTAGGGGTGACTATCACGCCGCCCCTACTGAGGGCAGCATCTGAGTCACAAGCTAAGTCCTTTTCATGCATTATCTCACTTGACAGTCTGCATTTTTGTTGGGGGAGACTGAGGATCAGAGGAGTGGAGTCACTTGCTCCAGCCTCTACAGCTGCTAAGTCCTGGAGATGCGGTTTGAGCCCAGGTGGCCTGACTCCCAGGCCACAGTAGGAGCTGCCGCACTCCACACCCACATGACAGCAGCTGGAGTGGAAGCTGCCTCCAGAGGAGGCTCGGAGGATGTGGGACGCAGCAGAGATTTCTTGCTTGTGACTATATCCAAATGTTTTGGACAGCCAAGGCAAGGGTCCCACATCACTGCCCAGCTGTCAAGGTCTTCTGTCCAGTGTGCCTGGCGGGGCAGCGTCCAGCTGTGGGGCAAAAATCTTGAGCCCTTGGGGCAGGGAGCGTCCAGCTGAGGCTGGGGCATGCCCCCTACATGTATACCAGGCCCCCCGGCCAGCCTGACCCCACTCCAGCCATCATCAGCGGTGTGATGGGCCTGGCAGTCGCCCCCTCCCAGCCTCACCAGCGGTGTGATGGACTTGGCAGTCACGTCGTAGCTGGTGGATGCATTGTTCTTCACCAGCTTCCCGTCCTCCATGTGCGGGCCCCTGCCGATGCGGAAGATCTGCCAGAAGGGGGCACATGCCAGGGGCAGGAAGTGGCCTCTGAGGCCAGCAGCCCATCCAGGCCCATCCGCCCACATGCTCAGACTCAGTGCTGGTGGGGGCATCTTGTGTCCCCGGCAGTGTCTGGGTCATGCACCCCACCCACTGAGGCCAGTACTGAGGGCTGGGGTCCGACCACACAGTGTCCCCGTACCCCGGCTGAGGACGCACCTTCTTGTTGAGCTCCGTGCGGTGGTGATAGCCCTTCTGCCCGGCCCGAGCAATGGAGCAGCCCACGCGGGCGGGGTGCCAGGCGCCAATGCAGGCCACCTTGCGCAGGCCCTTATGGGTCTTCCGCGGCAGCTTCTTGGTATGCCAGCGGCTTGTGACCCCTGTGAGTGAGAGGGGCTGGTGGCTGAGAGGCCAGGCTGGTCCCCACTGCCTCCAGGCAGCCTGCCCTGGAGCTGCCATCCTCACTGAGCCCTACCTTTGACGCCTCGACCCTTGGTGACAGCAATGACATCAATGACCTCACTCTGGCTGAACACGCTGTGCACGGGCACCTGCTTCTCCAGCCGGGCCTGGGCCCAGGCCACCTTCTCGGCCACCGTGCCACCGTTCAGCTGGATCTCCATGATGTGGGCCTTCTTCTGCCGGAAGGGCAGCAGTTTCATCTGCAGGACATGGCCGGAGGTCACGCCACGGCCCACGGGATCACACCCCCACCTGAAACATGGCATGGCCAGCAGTGACCCCTGCCGCCTTCCACGCATGCATTCATTCACAGGTGTTCCCAGGATCAGGTTGCAACCCATGTGTTGTGCTAGGCACTGCGGATCCGGTGCAGAATGAGGCAGACAGAGTCCCACACCTCGGGAGCCACCATCTCACTGGGGGACAGAAGGAAACCAAGTAACTCTTGGAGAGGACAGAGTGCTCTGATGGGCTATGGGGGCTGGTGTTTCAGATACAGTGGTCAGGGCAGAGAGGGCTTCTCTGAGAAGGTGCCGCTGCTAACAAGTAGGAGCCACGAGGCAAACATTGGAGAGGCTCTGGGCAGCAGGACCCCGCATTTGCACAGGCCTGGTGGCAGAGGAGGCCTTGGAAAGTTGGTGGGACAGAGAGGAGACCAGTGTGGGCAGACGGTGGGGAGCAAGGGGCGTGGGCCAGCACCTGGGAGTGGGGAGCTCGGACTTTCTTCCAAGTGCAGGCTGCGATGTGATCTGATTGGATTTTTTTTTTTTTTTTTTTTTTTGAGTCTCGCTCTATCGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCTCGACCAGCTAATTTTTTGTATTTTTAGTTGAGACAGGGTTTCACTGTGTTGGCCCGGATGGTCTGCATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTTTTTAATGGAGTCTCGCTCTGTTGCCCAGACTGGAGTACAGTGGGGCGATCTCGGCTCACTGCAACCTCTGCCTCCCTGAATCAAGTGATTCTCCTGCCTCAGCTTCTTGAGTAACTGGGATTACAGGTGTGTGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTACAGTTGGGGTTTCCCATGTTGGCCAGGCTGGTTTCAAACTCCTGACTTCAAGCGATCCACCCACCTTGACCTCCCAAAGTGCTAGGGTTCAGGCATGAGCCACTGCACCTGGCCTGATTTTTATTTTTTTATATTTTTATTTTGAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCAAGGCTCACTGCAGCCTCAGCCTCCCGGGCCGAAGCAATCCTCCCACCTTAGCCTCCTGAGTAGCTGGGATGACAGGCACTCACCACCATGCCCAGTTG 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AATAAAACATAAAACTCCGGTCTCCCGCACAGCCAGCTCTGTGTGAATTACTCTTTCTCTATTGCAATTCCCCTGTCTTAATGAATCGGCTTTGTCTAGGCAGCAGGCAAGGTGAACCCCTTGGGCGGTTACACAGCGCTCTGAGACCTCGCAGGAAGAGTCGCCTCCGGCCTTTGTTAGACATTGGGGCAGACAGTGCGGTGCGCTTCAGGGTTCATCCACCCCACACAGCCTACAAGTCTCCCGAGGTCTCCGGCGTTTCCTTCTCCAGATGCTTCTTTTGGGGGCCCTGGTTGAGAGGGTGGTGCAGGAGGAGCCTTAGTCACTCTGGCCAGAAACACGCCCTCCCCCAGCCAGGCTCTAGATCACTCAGGGCCGGCCCTACTGCCCCCCTAAGGCTGCTTCCTCCCCCACCTTCTCTTCTAAAGAATCAGTGCCCAGGGATAGACCCTTAAGAGTCTCTCCTGCAGGCCGGGCACGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGTCGGATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAATACGATGAAACCCCATCCCTACTAAAAATACAGAAAATTAGCCTGGCGTGGTGGCACGTGCCTGTAGTACCAACGACTGGGTAGGCTGAATCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTGGCAGTGAGCCAAGATCACGGCACAGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATAAAATAAATAAAAAAAAAAGAGTCTCTCCTGCAGTTGAGCTCAGGGGAGTCCCTGCCAGCTCCAGCTCCCTACTCGGGCAGGCTGGATGTGGAGCTGGAGCCCCAGAGAAGAACAAGGATGGGGGCGGTGAGCTCACCATGAAGGCCCTCTTCTCTTGGGCTGTCTGGAAGCGGCCATGGCCGAACTTGGAGGTGGTGTCAATGAACTTGAGCTCAATATTCTCCACGGCTTGGCGACTGTGATGCACCAGGAGGGACTGGGGAATCCATGGTAAAGTAAACATCAAGTGTGGGGATCCCCCACACCCTGCTGTGAACCTCCAAGCCCCACCAGGAAGGTCTTGCTCACCTAGTTCCTACCAGAGCCCTCCCCTTCTGCTCCCACCACTCCATCCCGCTCGTAGCAGGCCGCAGGGCAGGACAGGCTGGCAGCCCTCGGGCACCCACTCCCCAGCCCACCCAGCACTGCCAACCTTTCTCAGCGTAATGACCCGCTTCTTGGTACCAGCAATACAACCCTTCAGCATGACGAAGTCGTTGTTCACTTCCCCGTAGTGGGGGAAGCCACCCTGCAGAGGACACAGGTCAGAGGCCAGGCCCGGAAAGGGCTTCTGAGTTAGTGGGTGGCTGGGGGCCCTAGCAGAACCCCCAGAGGGGGCAGTGATAGGCAGGAGCCCCGTGCCCAGCCCCCAGATGTAGGGGTGACTATCACGCCGCCCCTACTGAGGGCAGCATCTGAGTCACAAGCTAAGTCCTTTTCATGCATTATCTCACTTGACAGTCTGCATTTTTGTTGGGGGAGACTGAGGATCAGAGGAGTGGAGTCACTTGCTCCAGCCTCTACAGCTGCTAAGTCCTGGAGATGCGGTTTGAGCCCAGGTGGCCTGACTCCCAGGCCACAGTAGGAGCTGCCGCACTCCACACCCACATGACAGCAGCTGGAGTGGAAGCTGCCTCCAGAGGAGGCTCGGAGGATGTGGGACGCAGCAGAGATTTCTTGCTTGTGACTATATCCAAATGTTTTGGACAGCCAAGGCAAGGGTCCCACATCACTGCCCAGCTGTCAAGGTCTTCTGTCCAGTGTGCCTGGCGGGGCAGCGTCCAGCTGTGGGGCAAAAATCTTGAGCCCTTGGGGCAGGGAGCGTCCAGCTGAGGCTGGGGCATGCCCCCTACATGTATACCAGGCCCCCCGGCCAGCCTGACCCCACTCCAGCCATCATCAGCGGTGTGATGGGCCTGGCAGTCGCCCCCTCCCAGCCTCACCAGCGGTGTGATGGACTTGGCAGTCACGACGTAGCTGGTGGATGCATTGTTCTTCACCAGCTTCCCGTCCTCCATGTGCGGGCCCCTGCCGATGCGGAAGATCTGCCAGAAGGGGGCACATGCCAGGGGCAGGAAGTGGCCTCTGAGGCCAGCAGCCCATCCAGGCCCATCCGCCCACATGCTCAGACTCAGTGCTGGTGGGGGCATCTTGTGTCCCCGGCAGTGTCTGGGTCATGCACCCCACCCACTGAGGCCAGTACTGAGGGCTGGGGTCCGACCACACAGTGTCCCCGTACCCCGGCTGAGGACGCACCTTCTTGTTGAGCTCCGTGCGGTGGTGATAGCCCTTCTGCCCGGCCCGAGCAATGGAGCAGCCCACGCGGGCGGGGTGCCAGGCGCCAATGCAGGCCACCTTGCGCAGGCCCTTATGGGTCTTCCGCGGCAGCTTCTTGGTATGCCAGCGGCTTGTGACCCCTGTGAGTGAGAGGGGCTGGTGGCTGAGAGGCCAGGCTGGTCCCCACTGCCTCCAGGCAGCCTGCCCTGGAGCTGCCATCCTCACTGAGCCCTACCTTTGACGCCTCGACCCTTGGTGACAGCAATGACATCAATGACCTCACTCTGGCTGAACACGCTGTGCACGGGCACCTGCTTCTCCAGCCGGGCCTGGGCCCAGGCCACCTTCTCGGCCACCGTGCCACCGTTCAGCTGGATCTCCATGATGTGGGCCTTCTTCTGCCGGAAGGGCAGCAGTTTCATCTGCAGGACATGGCCGGAGGTCACGCCACGGCCCACGGGATCACACCCCCACCTGAAACATGGCATGGCCAGCAGTGACCCCTGCCGCCTTCCACGCATGCATTCATTCACAGGTGTTCCCAGGATCAGGTTGCAACCCATGTGTTGTGCTAGGCACTGCGGATCCGGTGCAGAATGAGGCAGACAGAGTCCCACACCTCGGGAGCCACCATCTCACTGGGGGACAGAAGGAAACCAAGTAACTCTTGGAGAGGACAGAGTGCTCTGATGGGCTATGGGGGCTGGTGTTTCAGATACAGTGGTCAGGGCAGAGAGGGCTTCTCTGAGAAGGTGCCGCTGCTAACAAGTAGGAGCCACGAGGCAAACATTGGAGAGGCTCTGGGCAGCAGGACCCCGCATTTGCACAGGCCTGGTGGCAGAGGAGGCCTTGGAAAGTTGGTGGGACAGAGAGGAGACCAGTGTGGGCAGACGGTGGGGAGCAAGGGGCGTGGGCCAGCACCTGGGAGTGGGGAGCTCGGACTTTCTTCCAAGTGCAGGCTGCGATGTGATCTGATTGGATTTTTTTTTTTTTTTTTTTTTTTGAGTCTCGCTCTATCGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCTCGACCAGCTAATTTTTTGTATTTTTAGTTGAGACAGGGTTTCACTGTGTTGGCCCGGATGGTCTGCATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTTTTTAATGGAGTCTCGCTCTGTTGCCCAGACTGGAGTACAGTGGGGCGATCTCGGCTCACTGCAACCTCTGCCTCCCTGAATCAAGTGATTCTCCTGCCTCAGCTTCTTGAGTAACTGGGATTACAGGTGTGTGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTACAGTTGGGGTTTCCCATGTTGGCCAGGCTGGTTTCAAACTCCTGACTTCAAGCGATCCACCCACCTTGACCTCCCAAAGTGCTAGGGTTCAGGCATGAGCCACTGCACCTGGCCTGATTTTTATTTTTTTATATTTTTATTTTGAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCAAGGCTCACTGCAGCCTCAGCCTCCCGGGCCGAAGCAATCCTCCCACCTTAGCCTCCTGAGTAGCTGGGATGACAGGCACTCACCACCATGCCCAGTTG 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Task1_train_22067 | This mutation occurs in RPL3L (ribosomal protein L3 like) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cardiomyopathy, dilated, 2D | TTGCTTGAACCCAGGAGGTGGAGGTGGCAGTGAGCCAAGATCACGGCACAGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATAAAATAAATAAAAAAAAAAGAGTCTCTCCTGCAGTTGAGCTCAGGGGAGTCCCTGCCAGCTCCAGCTCCCTACTCGGGCAGGCTGGATGTGGAGCTGGAGCCCCAGAGAAGAACAAGGATGGGGGCGGTGAGCTCACCATGAAGGCCCTCTTCTCTTGGGCTGTCTGGAAGCGGCCATGGCCGAACTTGGAGGTGGTGTCAATGAACTTGAGCTCAATATTCTCCACGGCTTGGCGACTGTGATGCACCAGGAGGGACTGGGGAATCCATGGTAAAGTAAACATCAAGTGTGGGGATCCCCCACACCCTGCTGTGAACCTCCAAGCCCCACCAGGAAGGTCTTGCTCACCTAGTTCCTACCAGAGCCCTCCCCTTCTGCTCCCACCACTCCATCCCGCTCGTAGCAGGCCGCAGGGCAGGACAGGCTGGCAGCCCTCGGGCACCCACTCCCCAGCCCACCCAGCACTGCCAACCTTTCTCAGCGTAATGACCCGCTTCTTGGTACCAGCAATACAACCCTTCAGCATGACGAAGTCGTTGTTCACTTCCCCGTAGTGGGGGAAGCCACCCTGCAGAGGACACAGGTCAGAGGCCAGGCCCGGAAAGGGCTTCTGAGTTAGTGGGTGGCTGGGGGCCCTAGCAGAACCCCCAGAGGGGGCAGTGATAGGCAGGAGCCCCGTGCCCAGCCCCCAGATGTAGGGGTGACTATCACGCCGCCCCTACTGAGGGCAGCATCTGAGTCACAAGCTAAGTCCTTTTCATGCATTATCTCACTTGACAGTCTGCATTTTTGTTGGGGGAGACTGAGGATCAGAGGAGTGGAGTCACTTGCTCCAGCCTCTACAGCTGCTAAGTCCTGGAGATGCGGTTTGAGCCCAGGTGGCCTGACTCCCAGGCCACAGTAGGAGCTGCCGCACTCCACACCCACATGACAGCAGCTGGAGTGGAAGCTGCCTCCAGAGGAGGCTCGGAGGATGTGGGACGCAGCAGAGATTTCTTGCTTGTGACTATATCCAAATGTTTTGGACAGCCAAGGCAAGGGTCCCACATCACTGCCCAGCTGTCAAGGTCTTCTGTCCAGTGTGCCTGGCGGGGCAGCGTCCAGCTGTGGGGCAAAAATCTTGAGCCCTTGGGGCAGGGAGCGTCCAGCTGAGGCTGGGGCATGCCCCCTACATGTATACCAGGCCCCCCGGCCAGCCTGACCCCACTCCAGCCATCATCAGCGGTGTGATGGGCCTGGCAGTCGCCCCCTCCCAGCCTCACCAGCGGTGTGATGGACTTGGCAGTCACGTCGTAGCTGGTGGATGCATTGTTCTTCACCAGCTTCCCGTCCTCCATGTGCGGGCCCCTGCCGATGCGGAAGATCTGCCAGAAGGGGGCACATGCCAGGGGCAGGAAGTGGCCTCTGAGGCCAGCAGCCCATCCAGGCCCATCCGCCCACATGCTCAGACTCAGTGCTGGTGGGGGCATCTTGTGTCCCCGGCAGTGTCTGGGTCATGCACCCCACCCACTGAGGCCAGTACTGAGGGCTGGGGTCCGACCACACAGTGTCCCCGTACCCCGGCTGAGGACGCACCTTCTTGTTGAGCTCCGTGCGGTGGTGATAGCCCTTCTGCCCGGCCCGAGCAATGGAGCAGCCCACGCGGGCGGGGTGCCAGGCGCCAATGCAGGCCACCTTGCGCAGGCCCTTATGGGTCTTCCGCGGCAGCTTCTTGGTATGCCAGCGGCTTGTGACCCCTGTGAGTGAGAGGGGCTGGTGGCTGAGAGGCCAGGCTGGTCCCCACTGCCTCCAGGCAGCCTGCCCTGGAGCTGCCATCCTCACTGAGCCCTACCTTTGACGCCTCGACCCTTGGTGACAGCAATGACATCAATGACCTCACTCTGGCTGAACACGCTGTGCACGGGCACCTGCTTCTCCAGCCGGGCCTGGGCCCAGGCCACCTTCTCGGCCACCGTGCCACCGTTCAGCTGGATCTCCATGATGTGGGCCTTCTTCTGCCGGAAGGGCAGCAGTTTCATCTGCAGGACATGGCCGGAGGTCACGCCACGGCCCACGGGATCACACCCCCACCTGAAACATGGCATGGCCAGCAGTGACCCCTGCCGCCTTCCACGCATGCATTCATTCACAGGTGTTCCCAGGATCAGGTTGCAACCCATGTGTTGTGCTAGGCACTGCGGATCCGGTGCAGAATGAGGCAGACAGAGTCCCACACCTCGGGAGCCACCATCTCACTGGGGGACAGAAGGAAACCAAGTAACTCTTGGAGAGGACAGAGTGCTCTGATGGGCTATGGGGGCTGGTGTTTCAGATACAGTGGTCAGGGCAGAGAGGGCTTCTCTGAGAAGGTGCCGCTGCTAACAAGTAGGAGCCACGAGGCAAACATTGGAGAGGCTCTGGGCAGCAGGACCCCGCATTTGCACAGGCCTGGTGGCAGAGGAGGCCTTGGAAAGTTGGTGGGACAGAGAGGAGACCAGTGTGGGCAGACGGTGGGGAGCAAGGGGCGTGGGCCAGCACCTGGGAGTGGGGAGCTCGGACTTTCTTCCAAGTGCAGGCTGCGATGTGATCTGATTGGATTTTTTTTTTTTTTTTTTTTTTTGAGTCTCGCTCTATCGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCTCGACCAGCTAATTTTTTGTATTTTTAGTTGAGACAGGGTTTCACTGTGTTGGCCCGGATGGTCTGCATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTTTTTAATGGAGTCTCGCTCTGTTGCCCAGACTGGAGTACAGTGGGGCGATCTCGGCTCACTGCAACCTCTGCCTCCCTGAATCAAGTGATTCTCCTGCCTCAGCTTCTTGAGTAACTGGGATTACAGGTGTGTGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTACAGTTGGGGTTTCCCATGTTGGCCAGGCTGGTTTCAAACTCCTGACTTCAAGCGATCCACCCACCTTGACCTCCCAAAGTGCTAGGGTTCAGGCATGAGCCACTGCACCTGGCCTGATTTTTATTTTTTTATATTTTTATTTTGAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCAAGGCTCACTGCAGCCTCAGCCTCCCGGGCCGAAGCAATCCTCCCACCTTAGCCTCCTGAGTAGCTGGGATGACAGGCACTCACCACCATGCCCAGTTGTTTTTTTTTTGTTTGTTTGTTTGTTTGTTTTTTGAGACGGAGTTTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTTGTGCCACTACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGCGTTAGCTAGGATGGTCTCAATCTCCTGACCTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGAATTACAGACGTGAGCCACCGCGCCTGGCTTTTTTTTTTTTTTTTTGTAGAGATGGGGATCTCCCTATGTTGCCAAGACTGGTCTCGAAGTCCTCCTGCCTCAGCACCCCTCTCCAAGTAGCTGGAACTACAGGCATGCACCACCATGCCCAGCCAATTTTTAATTTTTTTGTAGAGATGAGGTCTCGTTAAGTTGCCCGGGCTGCCACCTTGTCCTCCCACAGTGCTAGGATCACTGGTGTAAGCCACTGGGCCTGATTTTTGTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACTCTATCGCCCGGGCTGGAGTGCCATGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCCAGTTTCAAGTGATTCTC 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TTGCTTGAACCCAGGAGGTGGAGGTGGCAGTGAGCCAAGATCACGGCACAGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATAAAATAAATAAAAAAAAAAGAGTCTCTCCTGCAGTTGAGCTCAGGGGAGTCCCTGCCAGCTCCAGCTCCCTACTCGGGCAGGCTGGATGTGGAGCTGGAGCCCCAGAGAAGAACAAGGATGGGGGCGGTGAGCTCACCATGAAGGCCCTCTTCTCTTGGGCTGTCTGGAAGCGGCCATGGCCGAACTTGGAGGTGGTGTCAATGAACTTGAGCTCAATATTCTCCACGGCTTGGCGACTGTGATGCACCAGGAGGGACTGGGGAATCCATGGTAAAGTAAACATCAAGTGTGGGGATCCCCCACACCCTGCTGTGAACCTCCAAGCCCCACCAGGAAGGTCTTGCTCACCTAGTTCCTACCAGAGCCCTCCCCTTCTGCTCCCACCACTCCATCCCGCTCGTAGCAGGCCGCAGGGCAGGACAGGCTGGCAGCCCTCGGGCACCCACTCCCCAGCCCACCCAGCACTGCCAACCTTTCTCAGCGTAATGACCCGCTTCTTGGTACCAGCAATACAACCCTTCAGCATGACGAAGTCGTTGTTCACTTCCCCGTAGTGGGGGAAGCCACCCTGCAGAGGACACAGGTCAGAGGCCAGGCCCGGAAAGGGCTTCTGAGTTAGTGGGTGGCTGGGGGCCCTAGCAGAACCCCCAGAGGGGGCAGTGATAGGCAGGAGCCCCGTGCCCAGCCCCCAGATGTAGGGGTGACTATCACGCCGCCCCTACTGAGGGCAGCATCTGAGTCACAAGCTAAGTCCTTTTCATGCATTATCTCACTTGACAGTCTGCATTTTTGTTGGGGGAGACTGAGGATCAGAGGAGTGGAGTCACTTGCTCCAGCCTCTACAGCTGCTAAGTCCTGGAGATGCGGTTTGAGCCCAGGTGGCCTGACTCCCAGGCCACAGTAGGAGCTGCCGCACTCCACACCCACATGACAGCAGCTGGAGTGGAAGCTGCCTCCAGAGGAGGCTCGGAGGATGTGGGACGCAGCAGAGATTTCTTGCTTGTGACTATATCCAAATGTTTTGGACAGCCAAGGCAAGGGTCCCACATCACTGCCCAGCTGTCAAGGTCTTCTGTCCAGTGTGCCTGGCGGGGCAGCGTCCAGCTGTGGGGCAAAAATCTTGAGCCCTTGGGGCAGGGAGCGTCCAGCTGAGGCTGGGGCATGCCCCCTACATGTATACCAGGCCCCCCGGCCAGCCTGACCCCACTCCAGCCATCATCAGCGGTGTGATGGGCCTGGCAGTCGCCCCCTCCCAGCCTCACCAGCGGTGTGATGGACTTGGCAGTCACGTCGTAGCTGGTGGATGCATTGTTCTTCACCAGCTTCCCGTCCTCCATGTGCGGGCCCCTGCCGATGCGGAAGATCTGCCAGAAGGGGGCACATGCCAGGGGCAGGAAGTGGCCTCTGAGGCCAGCAGCCCATCCAGGCCCATCCGCCCACATGCTCAGACTCAGTGCTGGTGGGGGCATCTTGTGTCCCCGGCAGTGTCTGGGTCATGCACCCCACCCACTGAGGCCAGTACTGAGGGCTGGGGTCCGACCACACAGTGTCCCCGTACCCCGGCTGAGGACGCACCTTCTTGTTGAGCTCCGTGCGGTGGTGATAGCCCTTCTGCCCGGCCCGAGCAATGGAGCAGCCCACGCGGGCGGGGTGCCAGGCGCCAATGCAGGCCACCTTGCGCAGGCCCTTATGGGTCTTCCGCGGCAGCTTCTTGGTATGCCAGCGGCTTGTGACCCCTGTGAGTGAGAGGGGCTGGTGGCTGAGAGGCCAGGCTGGTCCCCACTGCCTCCAGGCAGCCTGCCCTGGAGCTGCCATCCTCACTGAGCCCTACCTTTGACGCCTCGACCCTTGGTGACAGCAATGACATCAATGACCTCACTCTGGCTGAACACGCTGTGCACGGGCACCTGCTTCTCCAGCCGGGCCTGGGCCCAGGCCACCTTCTCGGCCACCATGCCACCGTTCAGCTGGATCTCCATGATGTGGGCCTTCTTCTGCCGGAAGGGCAGCAGTTTCATCTGCAGGACATGGCCGGAGGTCACGCCACGGCCCACGGGATCACACCCCCACCTGAAACATGGCATGGCCAGCAGTGACCCCTGCCGCCTTCCACGCATGCATTCATTCACAGGTGTTCCCAGGATCAGGTTGCAACCCATGTGTTGTGCTAGGCACTGCGGATCCGGTGCAGAATGAGGCAGACAGAGTCCCACACCTCGGGAGCCACCATCTCACTGGGGGACAGAAGGAAACCAAGTAACTCTTGGAGAGGACAGAGTGCTCTGATGGGCTATGGGGGCTGGTGTTTCAGATACAGTGGTCAGGGCAGAGAGGGCTTCTCTGAGAAGGTGCCGCTGCTAACAAGTAGGAGCCACGAGGCAAACATTGGAGAGGCTCTGGGCAGCAGGACCCCGCATTTGCACAGGCCTGGTGGCAGAGGAGGCCTTGGAAAGTTGGTGGGACAGAGAGGAGACCAGTGTGGGCAGACGGTGGGGAGCAAGGGGCGTGGGCCAGCACCTGGGAGTGGGGAGCTCGGACTTTCTTCCAAGTGCAGGCTGCGATGTGATCTGATTGGATTTTTTTTTTTTTTTTTTTTTTTGAGTCTCGCTCTATCGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCTCGACCAGCTAATTTTTTGTATTTTTAGTTGAGACAGGGTTTCACTGTGTTGGCCCGGATGGTCTGCATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTTTTTAATGGAGTCTCGCTCTGTTGCCCAGACTGGAGTACAGTGGGGCGATCTCGGCTCACTGCAACCTCTGCCTCCCTGAATCAAGTGATTCTCCTGCCTCAGCTTCTTGAGTAACTGGGATTACAGGTGTGTGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTACAGTTGGGGTTTCCCATGTTGGCCAGGCTGGTTTCAAACTCCTGACTTCAAGCGATCCACCCACCTTGACCTCCCAAAGTGCTAGGGTTCAGGCATGAGCCACTGCACCTGGCCTGATTTTTATTTTTTTATATTTTTATTTTGAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCAAGGCTCACTGCAGCCTCAGCCTCCCGGGCCGAAGCAATCCTCCCACCTTAGCCTCCTGAGTAGCTGGGATGACAGGCACTCACCACCATGCCCAGTTGTTTTTTTTTTGTTTGTTTGTTTGTTTGTTTTTTGAGACGGAGTTTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTTGTGCCACTACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGCGTTAGCTAGGATGGTCTCAATCTCCTGACCTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGAATTACAGACGTGAGCCACCGCGCCTGGCTTTTTTTTTTTTTTTTTGTAGAGATGGGGATCTCCCTATGTTGCCAAGACTGGTCTCGAAGTCCTCCTGCCTCAGCACCCCTCTCCAAGTAGCTGGAACTACAGGCATGCACCACCATGCCCAGCCAATTTTTAATTTTTTTGTAGAGATGAGGTCTCGTTAAGTTGCCCGGGCTGCCACCTTGTCCTCCCACAGTGCTAGGATCACTGGTGTAAGCCACTGGGCCTGATTTTTGTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACTCTATCGCCCGGGCTGGAGTGCCATGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCCAGTTTCAAGTGATTCTC 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Task1_train_22068 | A variant was discovered in gene RPL3L (ribosomal protein L3 like), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cardiomyopathy, dilated, 2D | CGCCATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTTGTGCCACTACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGCGTTAGCTAGGATGGTCTCAATCTCCTGACCTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGAATTACAGACGTGAGCCACCGCGCCTGGCTTTTTTTTTTTTTTTTTGTAGAGATGGGGATCTCCCTATGTTGCCAAGACTGGTCTCGAAGTCCTCCTGCCTCAGCACCCCTCTCCAAGTAGCTGGAACTACAGGCATGCACCACCATGCCCAGCCAATTTTTAATTTTTTTGTAGAGATGAGGTCTCGTTAAGTTGCCCGGGCTGCCACCTTGTCCTCCCACAGTGCTAGGATCACTGGTGTAAGCCACTGGGCCTGATTTTTGTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACTCTATCGCCCGGGCTGGAGTGCCATGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCCAGTTTCAAGTGATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGATTGCAGGCGCCCACCATGCCCAGCTAATTTGTTTGTATTTTTACTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGATCCACCATGTCTGGCTTGATTTTTTTTTTTTTTTTTTGGTAAGGTCTCTGGCTGGTGCTGTGTGAAGCACAGGCTGTGCAATGTAGAGGTGGAGACAGAGAGGCCAGCGGGGAACACATAGTGACCCATAGGTATGTATGGGGCAGGTATGTATGAGGCAGGTATGTACGGGGCAGGTATGGACGGGGCAGTATGTACGGGGCAGGTATGTACGGGGCAGGTATGTAGGGGGCAGGTATGTAGGGGGCAGGTATGGACGGGGCAGGTATGGACGGGGCAGGTATGGACGGGGCAGGTATGGACGGGGTAGGTATGGACGGGGTAGGTATGTAGGGGGCAGGTATGTAGGGGGCAGGTATGTAGGGGGCAGGTATGTAGGGGGCAGGTATGTAAGGGGCAGGTATGTAAGGGGCAGGTATGTAAGGGGCAGGTATGGACGGGGCAGGTATGGACAGGGCAGGTATGTAGGGGGCAGGTATGTAGGGAGCAGGTATGGACGGGGCAGGTATAGACAGAGCAGGTATGTAGGGGGCAGGTATGGACGGGGCAGGTATGTAGGGGGCAGGTATGGACGGGGCAGGTATGTAGGGGGCAGGTATGGACAGGGCAGGTATGTATGGGGTGGGTATGTATGGGGTGGGTATGTATGGGGCGGGTATGTATGGGGCAGGTATTTACAGAGCACCTCCTGCATACCAGGCTCTTGGTGGCAGCTGTGGCCCCGCCCAGGGCCTCTGCCTGCCTGGAGTCTGTCCAGGGAGATGAACACACACCAGTGACTGGCCCAGGCATGGTGTACAAGTGTGCGAGCAGCTGGGGGCAGTGTGGGGGCTGTGGGAAGCTCAGGGTCGGGGGCACTGCTCTAGGGCCTCGGGAAGCCTTCCCTGAGGACAAAGATGCCAAAGAGTGTTCCAGAATAAGCTGGAGGGTGCCGCCTGCCTGTCAGCCTACAGCAAGCCAGACCCATGTACAAACACGGATTCCTGTGCACACTTACGCTGGAAACCGAAGAGAGGTGACCAGCCCTCCACACAGCACACTTGGCTGGGGACCCGGCTCTTCAGGGCGTGCCAGGGTCTTAGTTGACTAGCCGGCGTGGCTGATGCCCCTGGCACCCCAGAAGGCACCGATGCCTTTCAGCAGCCATGCCTGGGGCTGCACGTGGCCAGCGAGGCTGGTCAGCCGCTCCTCTGGGTCTGTGCCGAGGCTCGGGTATTTTTAGGCTGACATTTGCCACAGCTCCTGGAAGCTGGGGTGAGGGAGCGTGGTCCTAGGGACTGACCGACAGCGGAGGGCCGGGGGCTGACCTGAGTGTGGACAATGACCCGAATGACCTTGCAGTACTTCTTCATGGCGGCGAAGTCCTTCTGTAGCTGCTTTTTCCCGTCTGTGTCCCGCCACCTCTTGCAGGCCTTGGTGAAGGCTTTCTTCTTGCTCTTGTGCCTGAGCCATGCACAGGAGGGTGCTCAGAAGCCCCCAACCGGGGCAGCTCCCCAGGCCTATCCTGCCCCCACCTCACCCCCAGCCCACCAAGCAGGGGTCCTACCTCTGGGACCGCCCCCCACCCGGAGGCCTCTGAGCTGGTTCCAGCCACCATCTTTGAACATAGACTGTCTCTCCCCCTCTAGGCCCCGGTTTCCTCCTCTGTAAAGTAGGTACCCTCCCTGTTTCCCGGGGCCTGAGAGTGAGTGGCAGAGGTGCAGAAGCTCAGAGAAGGCGGCTGGCCAGCCCTGCAGTCCAGGCACCTAGAGACCACCCCACCTGCCACATGGCTCAGACTGCTGGTCCCACTTCTCAAGGGTGCAGTGGGTGCCATGGCCAGGCACCTCGGGCTTGGGAGCCATCCTTTCTTTTTTGTTTTTGGAGATAGGGTCTCACTTTCTCTCCCAGGCTGGAGTGCAGTGGCACAAACACAGCTCACTGCAGCCTGGAGCTCCCAGACTCAAGCAATCCTCCCACCTCACCCCCCATGTAGCTGAGACCACAGGCATGCGCCACCGTGCCCGGCTAATTTTTTGTATTTTTTTGTAGAGACGGGTTTCGTCATGTTGCCCAGGCTGGTCTCGAAGCCCTGAGCTCAAACGGTCTGCCTGCCTTAGCCTCCCAAAGTGCTGGAATTATAGGAATGAACCATTGTGCCCAGCCAGAAGCCATAGTTTCTAACCCTCAGCAGAGTTCTGGGAGGTGGACATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTCCCATTCTATAGGTGAAGAAACCAAGGTTTCTTTCAGGACTTACTGCCAGGGAAGATTTGAGGCCCGAGAATACCTTTCTATGTGTAAGAGCTTCTCAGCTGGCTATTTCACTTTTCACAATGGCTGCTAGGAAACTCAGAGCCAATGCTAACATTCCATCAAATTAGCCTTTTGGTTTTTTGTTTGTTTGTTTTTTGACAGGGTCTCACTCTGTCGCTCACACTGGAGTGCAGCGGCACAATCTCAGCTCACTACAATCTCCACCTCCCAGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTCTGCCACCACGCCCAGCTTATTTTTTTATTTTTATTTTTTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGAGCCACCCGCCTTGGCCTCCCAAAGTGCTGGGACTACTACAGTCGTGAGCCACCACAAGCCGCCCAAATTAGCCTTTTAATTAACCCTGAGGATTAGAATATTTGTTTCCTCTTTTTCCTCCATCCTGATTTCATCTCCAGCCTTCTAGTACTCATGTTTTTTGTTTTTTGTGTTTTTCTTGAGATTGAGACAGGGTTTCACTCTGCCACCCAGGCTGCAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTTCACCTCCCAGTTCAAGTGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGACTACAGGTGCGCACCACCCCAGCCAGCTAATTTTTGTATTTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAGCACGCCCAGCCTACTCATCTTTTATTGAAATGAAGGCAACCACACAACACACACACACACACACACAGACACTCCTACCTCCCACAGACGGTTGAGACTTCGCTTCCTACTCACCCACACCTATCATTTCAGCAAGAGCTAGAGCCTCAGGCACCCAACTTCTGTGGTCCCAGCAGCCCTTGGACGGCCCAGCCAAGGGCGGTGCTCACCAGTCCTTGTAGAATCGGCGCCGGCACTCATCACTGAG | CGCCATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTTGTGCCACTACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGCGTTAGCTAGGATGGTCTCAATCTCCTGACCTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGAATTACAGACGTGAGCCACCGCGCCTGGCTTTTTTTTTTTTTTTTTGTAGAGATGGGGATCTCCCTATGTTGCCAAGACTGGTCTCGAAGTCCTCCTGCCTCAGCACCCCTCTCCAAGTAGCTGGAACTACAGGCATGCACCACCATGCCCAGCCAATTTTTAATTTTTTTGTAGAGATGAGGTCTCGTTAAGTTGCCCGGGCTGCCACCTTGTCCTCCCACAGTGCTAGGATCACTGGTGTAAGCCACTGGGCCTGATTTTTGTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACTCTATCGCCCGGGCTGGAGTGCCATGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCCAGTTTCAAGTGATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGATTGCAGGCGCCCACCATGCCCAGCTAATTTGTTTGTATTTTTACTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGATCCACCATGTCTGGCTTGATTTTTTTTTTTTTTTTTTGGTAAGGTCTCTGGCTGGTGCTGTGTGAAGCACAGGCTGTGCAATGTAGAGGTGGAGACAGAGAGGCCAGCGGGGAACACATAGTGACCCATAGGTATGTATGGGGCAGGTATGTATGAGGCAGGTATGTACGGGGCAGGTATGGACGGGGCAGTATGTACGGGGCAGGTATGTACGGGGCAGGTATGTAGGGGGCAGGTATGTAGGGGGCAGGTATGGACGGGGCAGGTATGGACGGGGCAGGTATGGACGGGGCAGGTATGGACGGGGTAGGTATGGACGGGGTAGGTATGTAGGGGGCAGGTATGTAGGGGGCAGGTATGTAGGGGGCAGGTATGTAGGGGGCAGGTATGTAAGGGGCAGGTATGTAAGGGGCAGGTATGTAAGGGGCAGGTATGGACGGGGCAGGTATGGACAGGGCAGGTATGTAGGGGGCAGGTATGTAGGGAGCAGGTATGGACGGGGCAGGTATAGACAGAGCAGGTATGTAGGGGGCAGGTATGGACGGGGCAGGTATGTAGGGGGCAGGTATGGACGGGGCAGGTATGTAGGGGGCAGGTATGGACAGGGCAGGTATGTATGGGGTGGGTATGTATGGGGTGGGTATGTATGGGGCGGGTATGTATGGGGCAGGTATTTACAGAGCACCTCCTGCATACCAGGCTCTTGGTGGCAGCTGTGGCCCCGCCCAGGGCCTCTGCCTGCCTGGAGTCTGTCCAGGGAGATGAACACACACCAGTGACTGGCCCAGGCATGGTGTACAAGTGTGCGAGCAGCTGGGGGCAGTGTGGGGGCTGTGGGAAGCTCAGGGTCGGGGGCACTGCTCTAGGGCCTCGGGAAGCCTTCCCTGAGGACAAAGATGCCAAAGAGTGTTCCAGAATAAGCTGGAGGGTGCCGCCTGCCTGTCAGCCTACAGCAAGCCAGACCCATGTACAAACACGGATTCCTGTGCACACTTACGCTGGAAACCGAAGAGAGGTGACCAGCCCTCCACACAGCACACTTGGCTGGGGACCCGGCTCTTCAGGGCGTGCCAGGGTCTTAGTTGACTAGCCGGCGTGGCTGATGCCCCTGGCACCCCAGAAGGCACCGATGCCTTTCAGCAGCCATGCCTGGGGCTGCACGTGGCCAGCGAGGCTGGTCAGCCGCTCCTCTGGGTCTGTGCCGAGGCTCGGGTATTTTTAGGCTGACATTTGCCACAGCTCCTGGAAGCTGGGGTGAGGGAGCGTGGTCCTAGGGACTGACCGACAGCGGAGGGCCGGGGGCTGACCTGAGTGTGGACAATGACCCAAATGACCTTGCAGTACTTCTTCATGGCGGCGAAGTCCTTCTGTAGCTGCTTTTTCCCGTCTGTGTCCCGCCACCTCTTGCAGGCCTTGGTGAAGGCTTTCTTCTTGCTCTTGTGCCTGAGCCATGCACAGGAGGGTGCTCAGAAGCCCCCAACCGGGGCAGCTCCCCAGGCCTATCCTGCCCCCACCTCACCCCCAGCCCACCAAGCAGGGGTCCTACCTCTGGGACCGCCCCCCACCCGGAGGCCTCTGAGCTGGTTCCAGCCACCATCTTTGAACATAGACTGTCTCTCCCCCTCTAGGCCCCGGTTTCCTCCTCTGTAAAGTAGGTACCCTCCCTGTTTCCCGGGGCCTGAGAGTGAGTGGCAGAGGTGCAGAAGCTCAGAGAAGGCGGCTGGCCAGCCCTGCAGTCCAGGCACCTAGAGACCACCCCACCTGCCACATGGCTCAGACTGCTGGTCCCACTTCTCAAGGGTGCAGTGGGTGCCATGGCCAGGCACCTCGGGCTTGGGAGCCATCCTTTCTTTTTTGTTTTTGGAGATAGGGTCTCACTTTCTCTCCCAGGCTGGAGTGCAGTGGCACAAACACAGCTCACTGCAGCCTGGAGCTCCCAGACTCAAGCAATCCTCCCACCTCACCCCCCATGTAGCTGAGACCACAGGCATGCGCCACCGTGCCCGGCTAATTTTTTGTATTTTTTTGTAGAGACGGGTTTCGTCATGTTGCCCAGGCTGGTCTCGAAGCCCTGAGCTCAAACGGTCTGCCTGCCTTAGCCTCCCAAAGTGCTGGAATTATAGGAATGAACCATTGTGCCCAGCCAGAAGCCATAGTTTCTAACCCTCAGCAGAGTTCTGGGAGGTGGACATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTCCCATTCTATAGGTGAAGAAACCAAGGTTTCTTTCAGGACTTACTGCCAGGGAAGATTTGAGGCCCGAGAATACCTTTCTATGTGTAAGAGCTTCTCAGCTGGCTATTTCACTTTTCACAATGGCTGCTAGGAAACTCAGAGCCAATGCTAACATTCCATCAAATTAGCCTTTTGGTTTTTTGTTTGTTTGTTTTTTGACAGGGTCTCACTCTGTCGCTCACACTGGAGTGCAGCGGCACAATCTCAGCTCACTACAATCTCCACCTCCCAGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTCTGCCACCACGCCCAGCTTATTTTTTTATTTTTATTTTTTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGAGCCACCCGCCTTGGCCTCCCAAAGTGCTGGGACTACTACAGTCGTGAGCCACCACAAGCCGCCCAAATTAGCCTTTTAATTAACCCTGAGGATTAGAATATTTGTTTCCTCTTTTTCCTCCATCCTGATTTCATCTCCAGCCTTCTAGTACTCATGTTTTTTGTTTTTTGTGTTTTTCTTGAGATTGAGACAGGGTTTCACTCTGCCACCCAGGCTGCAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTTCACCTCCCAGTTCAAGTGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGACTACAGGTGCGCACCACCCCAGCCAGCTAATTTTTGTATTTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAGCACGCCCAGCCTACTCATCTTTTATTGAAATGAAGGCAACCACACAACACACACACACACACACACAGACACTCCTACCTCCCACAGACGGTTGAGACTTCGCTTCCTACTCACCCACACCTATCATTTCAGCAAGAGCTAGAGCCTCAGGCACCCAACTTCTGTGGTCCCAGCAGCCCTTGGACGGCCCAGCCAAGGGCGGTGCTCACCAGTCCTTGTAGAATCGGCGCCGGCACTCATCACTGAG |
Task1_train_22069 | A variant was discovered in gene RPL3L (ribosomal protein L3 like), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cardiomyopathy, dilated, 2D | CTGAGTGTGGACAATGACCCGAATGACCTTGCAGTACTTCTTCATGGCGGCGAAGTCCTTCTGTAGCTGCTTTTTCCCGTCTGTGTCCCGCCACCTCTTGCAGGCCTTGGTGAAGGCTTTCTTCTTGCTCTTGTGCCTGAGCCATGCACAGGAGGGTGCTCAGAAGCCCCCAACCGGGGCAGCTCCCCAGGCCTATCCTGCCCCCACCTCACCCCCAGCCCACCAAGCAGGGGTCCTACCTCTGGGACCGCCCCCCACCCGGAGGCCTCTGAGCTGGTTCCAGCCACCATCTTTGAACATAGACTGTCTCTCCCCCTCTAGGCCCCGGTTTCCTCCTCTGTAAAGTAGGTACCCTCCCTGTTTCCCGGGGCCTGAGAGTGAGTGGCAGAGGTGCAGAAGCTCAGAGAAGGCGGCTGGCCAGCCCTGCAGTCCAGGCACCTAGAGACCACCCCACCTGCCACATGGCTCAGACTGCTGGTCCCACTTCTCAAGGGTGCAGTGGGTGCCATGGCCAGGCACCTCGGGCTTGGGAGCCATCCTTTCTTTTTTGTTTTTGGAGATAGGGTCTCACTTTCTCTCCCAGGCTGGAGTGCAGTGGCACAAACACAGCTCACTGCAGCCTGGAGCTCCCAGACTCAAGCAATCCTCCCACCTCACCCCCCATGTAGCTGAGACCACAGGCATGCGCCACCGTGCCCGGCTAATTTTTTGTATTTTTTTGTAGAGACGGGTTTCGTCATGTTGCCCAGGCTGGTCTCGAAGCCCTGAGCTCAAACGGTCTGCCTGCCTTAGCCTCCCAAAGTGCTGGAATTATAGGAATGAACCATTGTGCCCAGCCAGAAGCCATAGTTTCTAACCCTCAGCAGAGTTCTGGGAGGTGGACATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTCCCATTCTATAGGTGAAGAAACCAAGGTTTCTTTCAGGACTTACTGCCAGGGAAGATTTGAGGCCCGAGAATACCTTTCTATGTGTAAGAGCTTCTCAGCTGGCTATTTCACTTTTCACAATGGCTGCTAGGAAACTCAGAGCCAATGCTAACATTCCATCAAATTAGCCTTTTGGTTTTTTGTTTGTTTGTTTTTTGACAGGGTCTCACTCTGTCGCTCACACTGGAGTGCAGCGGCACAATCTCAGCTCACTACAATCTCCACCTCCCAGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTCTGCCACCACGCCCAGCTTATTTTTTTATTTTTATTTTTTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGAGCCACCCGCCTTGGCCTCCCAAAGTGCTGGGACTACTACAGTCGTGAGCCACCACAAGCCGCCCAAATTAGCCTTTTAATTAACCCTGAGGATTAGAATATTTGTTTCCTCTTTTTCCTCCATCCTGATTTCATCTCCAGCCTTCTAGTACTCATGTTTTTTGTTTTTTGTGTTTTTCTTGAGATTGAGACAGGGTTTCACTCTGCCACCCAGGCTGCAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTTCACCTCCCAGTTCAAGTGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGACTACAGGTGCGCACCACCCCAGCCAGCTAATTTTTGTATTTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAGCACGCCCAGCCTACTCATCTTTTATTGAAATGAAGGCAACCACACAACACACACACACACACACACAGACACTCCTACCTCCCACAGACGGTTGAGACTTCGCTTCCTACTCACCCACACCTATCATTTCAGCAAGAGCTAGAGCCTCAGGCACCCAACTTCTGTGGTCCCAGCAGCCCTTGGACGGCCCAGCCAAGGGCGGTGCTCACCAGTCCTTGTAGAATCGGCGCCGGCACTCATCACTGAGGTGTTCTGCAAAGATGGTCTTGAAGCTCCGGAGACCTCGAGGGGTGGCCACGTAGCCCACCACGCCCACCACCACTAGGGGCGGCGTTTCTACAATTGTCACCGCCTCCACCTCCTCCCGTTTGGAAATTTCTGGATGAGACACAGGGATGGGGCATGAAGGGGGACCTCCTGAGGCCTGTGGGGGAGGGAGTGGAGAGCCGCCCACATAGGGGCAGGACAGGAGAGTGTGGGGCCAGCCAGGACAGCATTCCCCAGAGGGTGGGGCTGAGCCCAAATGAGCATTTGTTATTCTAATGATTACAATGGATTTCTTTTTCTGTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAATGCAGTGGTGCAATCATAGCTCACTGCAGCCTTGACTTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGCGACTACAGGCACTCGCCACAACGCCCAGCTAATTTTTGTATTTTTTGTAGAGATAGGGTTTCACGATGCCGTCCAGGTTGGTCTGCAACTCCTGGCCTCAAATGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTGCATTATTTCTTACAACTACTTGTGAATCTACGATTAAAACAACAAAAACTAACTATATACATAGGCGTACATATGAAATAATGGTACATGAAATAGACCCGAAATGGCCAAAAAGTGCAGATGTCCTGGCAGGTGGTTTGAACCGAGGGCTTGGGGCGCTGGCCTTTGAATCCTAGCTCCTGCGCTTACCGCCCCGGTGACTGGACCAGGTTCCTCACTGCTTTGTGCCTCAATGTCCTCATCTGCGAGCTGGGGCCATGACAGAACCCGCCCGGAAGCCCTGCCTGTGCTCAGCGTCCACCCCAATTCCCGGGGGCGAGGCCTGGTGCTCCCTGGGACTGTGGCCCTGTCTGGACCAAAAGCGTGAGTTCTGGCTCCGAGCATCTGGAAGGTTCAGCCCTCCCCCTCCCCCAAGGGTCCCAACTGTGACTCACTGAGCCCCGGCCGGTGCACCTCCCGCAGGGTGTGGGTCATGCCCGCCTTGTAGCCCAGGAAGGCCGTGAGGTGCACGGGCTGGCTGGGGTCATCCCGCGGCCACGTCTTCACCTTGCCCCGGTGCCGGTGGCTCCTCTTATGGGGCAGGAAGCCCAGGTGTCCGTGCCGAGGGGCGGAAAACTTCCGGTGGGACTGGGGGGCAGGAAGGAAGGAGGTCAGACCTGGGGTGTCCCTGGTGGTAGAGCTGGATGGTCCCAGAACCCATACCTGGAGAAATGGACTACAGGCTTCAGACTGAGGCCTGTGCTCAGCACCTCCCCTGTCTGCCTACAGGAGGGGAGAGGAAGGTTCACCAAGGGGCAGCGTCTTTGGGATGGGGTCTCCATAGCCACAGGCTTCCTGCCTCTGTGGGCTCAGCCTGGGGCCCAGGAGGGTCGCACCCATACTGCAGCCAAGGGCTCCTGGGGCAGGTGGCCGCTGCCATCTGTTCATCTCCAGGGCCCTCCCAGGCCCAGGAGCCCAGCCCTCGTCCCCTTGTTTCCCCCTCCAGCCTCCCATCCCCTCACAGGCTGGGAGACTGTCCCTCTGAGGGAGCATCCAGAAGCCCAGCTGTCCCACCCCCCCAGAGTTCCAGCTCCAACCCCAGCCCACCCTCACCCTGGTCCCACCAACCATGGTGGCCGATCCCTGAAGGTCAGGAAGGGGCCTCGCCGCTAGCCGCCAGAGGTCGAGTGGCAGGGCCAGGACTCACAGCTGCCAGTTCCCAGATTAGCCCCTGGCACAGTCAGCAGGGTCTCCGGTGCCAGGAGCAGGCAGGGGCGGGGCAGTGTTGGGGGCATCAGATAGACAGCCTGAGTGGGGCACCCGGAGCCAGGGCTGGCACTCCTTTCCTCGATGGCCCTGGGGCTGGGTCATGACCCTCCCAGGACAGGACTGGCCAGGCAAGGTGGGGGCCAAGGTAGCCGGTGGGGGCCTTCTCCCAG | CTGAGTGTGGACAATGACCCGAATGACCTTGCAGTACTTCTTCATGGCGGCGAAGTCCTTCTGTAGCTGCTTTTTCCCGTCTGTGTCCCGCCACCTCTTGCAGGCCTTGGTGAAGGCTTTCTTCTTGCTCTTGTGCCTGAGCCATGCACAGGAGGGTGCTCAGAAGCCCCCAACCGGGGCAGCTCCCCAGGCCTATCCTGCCCCCACCTCACCCCCAGCCCACCAAGCAGGGGTCCTACCTCTGGGACCGCCCCCCACCCGGAGGCCTCTGAGCTGGTTCCAGCCACCATCTTTGAACATAGACTGTCTCTCCCCCTCTAGGCCCCGGTTTCCTCCTCTGTAAAGTAGGTACCCTCCCTGTTTCCCGGGGCCTGAGAGTGAGTGGCAGAGGTGCAGAAGCTCAGAGAAGGCGGCTGGCCAGCCCTGCAGTCCAGGCACCTAGAGACCACCCCACCTGCCACATGGCTCAGACTGCTGGTCCCACTTCTCAAGGGTGCAGTGGGTGCCATGGCCAGGCACCTCGGGCTTGGGAGCCATCCTTTCTTTTTTGTTTTTGGAGATAGGGTCTCACTTTCTCTCCCAGGCTGGAGTGCAGTGGCACAAACACAGCTCACTGCAGCCTGGAGCTCCCAGACTCAAGCAATCCTCCCACCTCACCCCCCATGTAGCTGAGACCACAGGCATGCGCCACCGTGCCCGGCTAATTTTTTGTATTTTTTTGTAGAGACGGGTTTCGTCATGTTGCCCAGGCTGGTCTCGAAGCCCTGAGCTCAAACGGTCTGCCTGCCTTAGCCTCCCAAAGTGCTGGAATTATAGGAATGAACCATTGTGCCCAGCCAGAAGCCATAGTTTCTAACCCTCAGCAGAGTTCTGGGAGGTGGACATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTCCCATTCTATAGGTGAAGAAACCAAGGTTTCTTTCAGGACTTACTGCCAGGGAAGATTTGAGGCCCGAGAATACCTTTCTATGTGTAAGAGCTTCTCAGCTGGCTATTTCACTTTTCACAATGGCTGCTAGGAAACTCAGAGCCAATGCTAACATTCCATCAAATTAGCCTTTTGGTTTTTTGTTTGTTTGTTTTTTGACAGGGTCTCACTCTGTCGCTCACACTGGAGTGCAGCGGCACAATCTCAGCTCACTACAATCTCCACCTCCCAGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTCTGCCACCACGCCCAGCTTATTTTTTTATTTTTATTTTTTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGAGCCACCCGCCTTGGCCTCCCAAAGTGCTGGGACTACTACAGTCGTGAGCCACCACAAGCCGCCCAAATTAGCCTTTTAATTAACCCTGAGGATTAGAATATTTGTTTCCTCTTTTTCCTCCATCCTGATTTCATCTCCAGCCTTCTAGTACTCATGTTTTTTGTTTTTTGTGTTTTTCTTGAGATTGAGACAGGGTTTCACTCTGCCACCCAGGCTGCAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTTCACCTCCCAGTTCAAGTGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGACTACAGGTGCGCACCACCCCAGCCAGCTAATTTTTGTATTTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAGCACGCCCAGCCTACTCATCTTTTATTGAAATGAAGGCAACCACACAACACACACACACACACACACAGACACTCCTACCTCCCACAGACGGTTGAGACTTCGCTTCCTACTCACCCACACCTATCATTTCAGCAAGAGCTAGAGCCTCAGGCACCCAACTTCTGTGGTCCCAGCAGCCCTTGGACGGCCCAGCCAAGGGCGGTGCTCACCAGTCCTTGTAGAATCGGTGCCGGCACTCATCACTGAGGTGTTCTGCAAAGATGGTCTTGAAGCTCCGGAGACCTCGAGGGGTGGCCACGTAGCCCACCACGCCCACCACCACTAGGGGCGGCGTTTCTACAATTGTCACCGCCTCCACCTCCTCCCGTTTGGAAATTTCTGGATGAGACACAGGGATGGGGCATGAAGGGGGACCTCCTGAGGCCTGTGGGGGAGGGAGTGGAGAGCCGCCCACATAGGGGCAGGACAGGAGAGTGTGGGGCCAGCCAGGACAGCATTCCCCAGAGGGTGGGGCTGAGCCCAAATGAGCATTTGTTATTCTAATGATTACAATGGATTTCTTTTTCTGTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAATGCAGTGGTGCAATCATAGCTCACTGCAGCCTTGACTTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGCGACTACAGGCACTCGCCACAACGCCCAGCTAATTTTTGTATTTTTTGTAGAGATAGGGTTTCACGATGCCGTCCAGGTTGGTCTGCAACTCCTGGCCTCAAATGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTGCATTATTTCTTACAACTACTTGTGAATCTACGATTAAAACAACAAAAACTAACTATATACATAGGCGTACATATGAAATAATGGTACATGAAATAGACCCGAAATGGCCAAAAAGTGCAGATGTCCTGGCAGGTGGTTTGAACCGAGGGCTTGGGGCGCTGGCCTTTGAATCCTAGCTCCTGCGCTTACCGCCCCGGTGACTGGACCAGGTTCCTCACTGCTTTGTGCCTCAATGTCCTCATCTGCGAGCTGGGGCCATGACAGAACCCGCCCGGAAGCCCTGCCTGTGCTCAGCGTCCACCCCAATTCCCGGGGGCGAGGCCTGGTGCTCCCTGGGACTGTGGCCCTGTCTGGACCAAAAGCGTGAGTTCTGGCTCCGAGCATCTGGAAGGTTCAGCCCTCCCCCTCCCCCAAGGGTCCCAACTGTGACTCACTGAGCCCCGGCCGGTGCACCTCCCGCAGGGTGTGGGTCATGCCCGCCTTGTAGCCCAGGAAGGCCGTGAGGTGCACGGGCTGGCTGGGGTCATCCCGCGGCCACGTCTTCACCTTGCCCCGGTGCCGGTGGCTCCTCTTATGGGGCAGGAAGCCCAGGTGTCCGTGCCGAGGGGCGGAAAACTTCCGGTGGGACTGGGGGGCAGGAAGGAAGGAGGTCAGACCTGGGGTGTCCCTGGTGGTAGAGCTGGATGGTCCCAGAACCCATACCTGGAGAAATGGACTACAGGCTTCAGACTGAGGCCTGTGCTCAGCACCTCCCCTGTCTGCCTACAGGAGGGGAGAGGAAGGTTCACCAAGGGGCAGCGTCTTTGGGATGGGGTCTCCATAGCCACAGGCTTCCTGCCTCTGTGGGCTCAGCCTGGGGCCCAGGAGGGTCGCACCCATACTGCAGCCAAGGGCTCCTGGGGCAGGTGGCCGCTGCCATCTGTTCATCTCCAGGGCCCTCCCAGGCCCAGGAGCCCAGCCCTCGTCCCCTTGTTTCCCCCTCCAGCCTCCCATCCCCTCACAGGCTGGGAGACTGTCCCTCTGAGGGAGCATCCAGAAGCCCAGCTGTCCCACCCCCCCAGAGTTCCAGCTCCAACCCCAGCCCACCCTCACCCTGGTCCCACCAACCATGGTGGCCGATCCCTGAAGGTCAGGAAGGGGCCTCGCCGCTAGCCGCCAGAGGTCGAGTGGCAGGGCCAGGACTCACAGCTGCCAGTTCCCAGATTAGCCCCTGGCACAGTCAGCAGGGTCTCCGGTGCCAGGAGCAGGCAGGGGCGGGGCAGTGTTGGGGGCATCAGATAGACAGCCTGAGTGGGGCACCCGGAGCCAGGGCTGGCACTCCTTTCCTCGATGGCCCTGGGGCTGGGTCATGACCCTCCCAGGACAGGACTGGCCAGGCAAGGTGGGGGCCAAGGTAGCCGGTGGGGGCCTTCTCCCAG |
Task1_train_22070 | The gene LOC130058198, NDUFB10 (ATAC-STARR-seq lymphoblastoid active region 10241| NADH:ubiquinone oxidoreductase subunit B10), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 35 | CGGCGCCAGCGCGCAGACGCAGCCGCCCTCGGCGTCCTCTGTAGCGGGCGACCTAGGCCGCGGGACCCGGACGGAGGTAGAGGCCAGGGCAGCGCGTCCGGGAGCGGAGTCCGCGCCCGCCGCCGCCATGCCGGACAGCTGGGACAAGGATGTGTACCCTGAGCCCCCGCGCCGCACGCCGGTGCAGCCCAATCCCATCGTCTACATGATGAAAGCGTTCGACCTCATCGTGGACCGACCCGTGACCCTCGTGAGAGGTACGAAGCCCCAGCCCGGGGCTCCCTCGCCGGCCTCTGGGGACCCCTGGATCCCACACCCTGCCTGGATCCTCCAATGCCTCCGGGGTCCCGTCTGCCTGAGACCGCCCCCCGCTGCACCCCGGGGACAACTCCCCACCCCCGGAGACCTCCGAGCTCCGTCGCCTCCTTTGGCCTCCCACTGCACCCCGGACCTCACCTCCCAGGATCCCTTACTCTCCCCTGCACCCCGGGATGCCCCGCTTCTTCCCAGGACTCTTCCCTCCCTGCCGCACCCAGCGCCCACTGCCCCAGGACCCCGCACTGCTCTCCGCCCCCCGCCGCCCCGGGCACCCCTCCACTGCACCGCTGGCCTCAGGCCTCTCTCAAATGTCTCTCTGCCGGATGACCAAGTGTCGGGGTGATGGCCGAGATGCCCAAATTCAGCATCTCTGGAACGAACCGGGAAAATGCCCAGTTCAGTTTTTGTTGTTTTTTTTTTTCCTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCCCACCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCCAGTACTAGGATTACAGGCGCACCACCACCACGCCCAGCTAATTTTTATATTTTTAGTAGACACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCCACCTTGGCCCCCAGGTGCTGGGATTACAGGCCTGAGCCACCGTGTCCAGCCTGGTTCAGTTCTTTTTGAACACTTGGGGTGCATAGCATGCTCTGGTGGTTCTTCCGTAAGAGGGTGAAGTCTCCAAATCAAACCCCCAAAGATCTGGAAACCGTGCAACAGCGGACCCAGCTCCCTCTCTTTTGTAGCAGTTGTAGAGCATGTCTGTCCTATGTGTCTGGATGTTCGAGCTCTCCTTTTAGCTCGTTCATTTCCCAGTGAGGAAGCTGAGGCCGTAAGGTGGTAAGTTCTGCTTGCTGGAGGCTCCCTGTTGGAGCCTCTTTGCGCACCCAGCAGGGTCCCTGTGCAGCTGGGGGAGGTGCACTGGCAGAGCTGCGTCCCAGTCCTTGCCATCTGTGAGAAGCAGCTGCCTGTAGGCTTGTGTGGGGGACAGAGTAAGGTAATGCATGTGGAACTCTGAGGATGATGCCTGGTACTCGGGAGCTCTCCATCAGCTGTAGCCTAGGCCTTCACAGGCCTGCCTGGCTGGCCACATCCCTTAGAGAGACGAATTGCTGTTTTCTAAACGCTGGAACACTCAGGAAGTTCTCCTCTCTCCCCTCCAAAGGGCTTATGAGAAATAAGAAAGCTAAAAGCCTGTCCAAACCGATGAGGCATTTGAGTCTGTGGCTTTGTCTTTGCAGAATTTATAGAGCGGCAGCACGCAAAGAACAGGTATTACTACTACCACCGGCAGTACCGCCGCGTGCCAGACATCACTGAGTGCAAGGAGGAGGACATCATGTGCATGTATGAAGCCGAAATGCAGTGGAAGAGGGACTAGTACGTGAGCCATGCTGGGAGTGTGGAGATCTGCACCGTGTGCTGCTGGGACACTAGTCCCTGGGATGCCACAGGGTGGCATGCCCAGATTTTAGGGGTGACATGGGAGGAGCCAGACCCCAGGGCTCTTGCTTTCAATTGTTCTCACAGGGTACAGGAAAAGGATTCCTTGTGATTAGCCTCTCTTGCTCCTTTTCTCCACCAGCAAAGTCGACCAAGAAATTATCAACATTATGCAGGATCGGCTCAAAGCCTGTCAGCAGAGGGAAGGACAGAACTACCAGCAGAACTGTATCAAGGAAGTGGAGCAGTTCACCCAGGTGGCCAAGGCCTACCAGGACCGCTGTGCGTGCCCCACCCACCCCCAACCCCCCACCATCCTCCTGAGGCCTGGGGGCCAGAACCATTGCAAATCTTCCCTCCCCTCCCTTGTGCTCACTTGACTTTGCCCCCTTTGCATGTAGCAGAGGCCTCGGTTCCCAGCTTGTTTCCATTGCTTCCCCAGATCAGGACCTGGGGGCCTACAGTTCTGCCAGGAAGTGCCTGGCCAAACAGAGGCAGAGGATGCTGCAAGAGAGAAAAGCTGCAAAAGAGGCCGCCGCTGCCACCTCCTGAGGCAGCTGTGGGTGCCCCTGCTGTGTGGCTCTGTATGACTGTTGCTGAAATATAAAGCCCTGCAACCTGCCTGTGTGTCTGGTGTGATCTATTGGCCCCACGCCCCAGATTCAAACCACCACTAACCATGCAGGACACGGGAAAAAAACAGTAACACGCTTAATTCACTTTATTTTTCTTGTATAAAAACCCTATGTTGTAGCCACAGCTGGAGCCTGAGTCCGCTGCACGGAGACTCTGGTGTGGGTCTTGACGAGGTGGTCAGTGAACTCCTGATAGGGAGACTTGGTGAATACAGTCTCCTTCCAGAGGTCGGGGGTCAGGTAGCTGTAGGTCTTAGAAATGGCATCAAAGGTGGCCTTGGCTGCAAAACAAAAGAACCCCAGGAGGGTCAGTGGTGTGCTTGAGGCAAGTCCCCCAACCCAAAAATTGTCGCACTCCTAGGAACAGAGAGGCCATTCTGGGCGGGTCTGTCGTGCATTAGGAGAGCCTTTCTCTGCCTCCCTGAAAACACGCCAAGCACACACTGGACCCGTGTGGTTAAGCGGAGCTGAGAGACCATGGCTATGCCCCATGTGTGGACCACCTACCGAAGTTGCCCAGGGTGGCAGTGCAGCCCCGGGCTGAGGTGTAGCAGTCATCGATACCAGCCATCATGAGCAGCTTCTTAGGCACAGGTGCGGAGACGATGCCAGTGCCCCTGGGTGCAGGGATGAGGCGTACCAGCACAGAGCCGCAGCGGCCTGTCACCTGGTGAGGGAAGGAGTCAGGAGACGGGGGCCCGAGGGAGCCTGCCCCACGGCAGGCCCATCACCTGCCACCAGCCTACCTTGCAAGGGACAGTGTGGGGCTTGCCGATCTTGTTCCCCCAGTAGCCTCTGCGCACGGGGACGATGGAGAGCTTGGCCAGGATGATGGCCCCACGGATGGCGGTGGCCACCTCCTTGGAGCACTTAACACCCAGACCGACGTGGCCATTGTAGTCCCCGATAGCAACAAATGCCTGCGAAAAGATGTGTGTGAGGCAGCTGGTGGCCCTACACCCAATCACTGCCCACCGCCCAGGGCCTGTTGCACCCCTCAAGGAAAGAGAGGCCACAGTAAGGCCCATCCGAGGTCCTGAGGAGATCTTTTCTCTCTCTCCCCGTTACGAAAGTCACACGGGTGAAGCCAAGTGCAACTATGCAGAGCCGAGAGAGTCCCGGCAAGCCCAGCGCAGCCCCCTCCAGGACAGCCGGGTACCTTGAACCTGGTGCGCTGGCCGGCACGGGTCTGCTTCTGCACTGGCATAATCTTCAAAACCTCATCCTTGAGAGAGGCCCCCAGGAAGAAATCAATGATCTCTGATTCCTGAAACAAACAAGAAAATTGTAGGGAGAGCATTAAAAAAAAACTTAATACCATTATGATATTCAAGAACCAAAGTCACGGCCGGGGGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGACTGAGGTGGGCGGATCACAAGGTCAGGAGTCCGATACCAGCCTGGCCACATGGTGAAACCCCACCTCTATTAAAGACACAAAAAATTAGCCGGGCATGGTGGAGTGCGCCTGTAACCCCAGCTATTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCAGCCTAGGCGATAGGGCG 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CGGCGCCAGCGCGCAGACGCAGCCGCCCTCGGCGTCCTCTGTAGCGGGCGACCTAGGCCGCGGGACCCGGACGGAGGTAGAGGCCAGGGCAGCGCGTCCGGGAGCGGAGTCCGCGCCCGCCGCCGCCATGCCGGACAGCTGGGACAAGGATGTGTACCCTGAGCCCCCGCGCCGCACGCCGGTGCAGCCCAATCCCATCGTCTACATGATGAAAGCGTTCGACCTCATCGTGGACCGACCCGTGACCCTCGTGAGAGGTACGAAGCCCCAGCCCGGGGCTCCCTCGCCGGCCTCTGGGGACCCCTGGATCCCACACCCTGCCTGGATCCTCCAATGCCTCCGGGGTCCCGTCTGCCTGAGACCGCCCCCCGCTGCACCCCGGGGACAACTCCCCACCCCCGGAGACCTCCGAGCTCCGTCGCCTCCTTTGGCCTCCCACTGCACCCCGGACCTCACCTCCCAGGATCCCTTACTCTCCCCTGCACCCCGGGATGCCCCGCTTCTTCCCAGGACTCTTCCCTCCCTGCCGCACCCAGCGCCCACTGCCCCAGGACCCCGCACTGCTCTCCGCCCCCCGCCGCCCCGGGCACCCCTCCACTGCACCGCTGGCCTCAGGCCTCTCTCAAATGTCTCTCTGCCGGATGACCAAGTGTCGGGGTGATGGCCGAGATGCCCAAATTCAGCATCTCTGGAACGAACCGGGAAAATGCCCAGTTCAGTTTTTGTTGTTTTTTTTTTTCCTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCCCACCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCCAGTACTAGGATTACAGGCGCACCACCACCACGCCCAGCTAATTTTTATATTTTTAGTAGACACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCCACCTTGGCCCCCAGGTGCTGGGATTACAGGCCTGAGCCACCGTGTCCAGCCTGGTTCAGTTCTTTTTGAACACTTGGGGTGCATAGCATGCTCTGGTGGTTCTTCCGTAAGAGGGTGAAGTCTCCAAATCAAACCCCCAAAGATCTGGAAACCGTGCAACAGCGGACCCAGCTCCCTCTCTTTTGTAGCAGTTGTAGAGCATGTCTGTCCTATGTGTCTGGATGTTCGAGCTCTCCTTTTAGCTCGTTCATTTCCCAGTGAGGAAGCTGAGGCCGTAAGGTGGTAAGTTCTGCTTGCTGGAGGCTCCCTGTTGGAGCCTCTTTGCGCACCCAGCAGGGTCCCTGTGCAGCTGGGGGAGGTGCACTGGCAGAGCTGCGTCCCAGTCCTTGCCATCTGTGAGAAGCAGCTGCCTGTAGGCTTGTGTGGGGGACAGAGTAAGGTAATGCATGTGGAACTCTGAGGATGATGCCTGGTACTCGGGAGCTCTCCATCAGCTGTAGCCTAGGCCTTCACAGGCCTGCCTGGCTGGCCACATCCCTTAGAGAGACGAATTGCTGTTTTCTAAACGCTGGAACACTCAGGAAGTTCTCCTCTCTCCCCTCCAAAGGGCTTATGAGAAATAAGAAAGCTAAAAGCCTGTCCAAACCGATGAGGCATTTGAGTCTGTGGCTTTGTCTTTGCAGAATTTATAGAGCGGCAGCACGCAAAGAACAGGTATTACTACTACCACCGGCAGTACCGCCGCGTGCCAGACATCACTGAGTGCAAGGAGGAGGACATCATGTGCATGTATGAAGCCGAAATGCAGTGGAAGAGGGACTAGTACGTGAGCCATGCTGGGAGTGTGGAGATCTGCACCGTGTGCTGCTGGGACACTAGTCCCTGGGATGCCACAGGGTGGCATGCCCAGATTTTAGGGGTGACATGGGAGGAGCCAGACCCCAGGGCTCTTGCTTTCAATTGTTCTCACAGGGTACAGGAAAAGGATTCCTTGTGATTAGCCTCTCTTGCTCCTTTTCTCCACCAGCAAAGTCGACCAAGAAATTATCAACATTATGCAGGATCGGCTCAAAGCCCGTCAGCAGAGGGAAGGACAGAACTACCAGCAGAACTGTATCAAGGAAGTGGAGCAGTTCACCCAGGTGGCCAAGGCCTACCAGGACCGCTGTGCGTGCCCCACCCACCCCCAACCCCCCACCATCCTCCTGAGGCCTGGGGGCCAGAACCATTGCAAATCTTCCCTCCCCTCCCTTGTGCTCACTTGACTTTGCCCCCTTTGCATGTAGCAGAGGCCTCGGTTCCCAGCTTGTTTCCATTGCTTCCCCAGATCAGGACCTGGGGGCCTACAGTTCTGCCAGGAAGTGCCTGGCCAAACAGAGGCAGAGGATGCTGCAAGAGAGAAAAGCTGCAAAAGAGGCCGCCGCTGCCACCTCCTGAGGCAGCTGTGGGTGCCCCTGCTGTGTGGCTCTGTATGACTGTTGCTGAAATATAAAGCCCTGCAACCTGCCTGTGTGTCTGGTGTGATCTATTGGCCCCACGCCCCAGATTCAAACCACCACTAACCATGCAGGACACGGGAAAAAAACAGTAACACGCTTAATTCACTTTATTTTTCTTGTATAAAAACCCTATGTTGTAGCCACAGCTGGAGCCTGAGTCCGCTGCACGGAGACTCTGGTGTGGGTCTTGACGAGGTGGTCAGTGAACTCCTGATAGGGAGACTTGGTGAATACAGTCTCCTTCCAGAGGTCGGGGGTCAGGTAGCTGTAGGTCTTAGAAATGGCATCAAAGGTGGCCTTGGCTGCAAAACAAAAGAACCCCAGGAGGGTCAGTGGTGTGCTTGAGGCAAGTCCCCCAACCCAAAAATTGTCGCACTCCTAGGAACAGAGAGGCCATTCTGGGCGGGTCTGTCGTGCATTAGGAGAGCCTTTCTCTGCCTCCCTGAAAACACGCCAAGCACACACTGGACCCGTGTGGTTAAGCGGAGCTGAGAGACCATGGCTATGCCCCATGTGTGGACCACCTACCGAAGTTGCCCAGGGTGGCAGTGCAGCCCCGGGCTGAGGTGTAGCAGTCATCGATACCAGCCATCATGAGCAGCTTCTTAGGCACAGGTGCGGAGACGATGCCAGTGCCCCTGGGTGCAGGGATGAGGCGTACCAGCACAGAGCCGCAGCGGCCTGTCACCTGGTGAGGGAAGGAGTCAGGAGACGGGGGCCCGAGGGAGCCTGCCCCACGGCAGGCCCATCACCTGCCACCAGCCTACCTTGCAAGGGACAGTGTGGGGCTTGCCGATCTTGTTCCCCCAGTAGCCTCTGCGCACGGGGACGATGGAGAGCTTGGCCAGGATGATGGCCCCACGGATGGCGGTGGCCACCTCCTTGGAGCACTTAACACCCAGACCGACGTGGCCATTGTAGTCCCCGATAGCAACAAATGCCTGCGAAAAGATGTGTGTGAGGCAGCTGGTGGCCCTACACCCAATCACTGCCCACCGCCCAGGGCCTGTTGCACCCCTCAAGGAAAGAGAGGCCACAGTAAGGCCCATCCGAGGTCCTGAGGAGATCTTTTCTCTCTCTCCCCGTTACGAAAGTCACACGGGTGAAGCCAAGTGCAACTATGCAGAGCCGAGAGAGTCCCGGCAAGCCCAGCGCAGCCCCCTCCAGGACAGCCGGGTACCTTGAACCTGGTGCGCTGGCCGGCACGGGTCTGCTTCTGCACTGGCATAATCTTCAAAACCTCATCCTTGAGAGAGGCCCCCAGGAAGAAATCAATGATCTCTGATTCCTGAAACAAACAAGAAAATTGTAGGGAGAGCATTAAAAAAAAACTTAATACCATTATGATATTCAAGAACCAAAGTCACGGCCGGGGGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGACTGAGGTGGGCGGATCACAAGGTCAGGAGTCCGATACCAGCCTGGCCACATGGTGAAACCCCACCTCTATTAAAGACACAAAAAATTAGCCGGGCATGGTGGAGTGCGCCTGTAACCCCAGCTATTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCAGCCTAGGCGATAGGGCG 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Task1_train_22071 | Given this variant in gene GFER (growth factor, augmenter of liver regeneration) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | GTGCGCCGCGGATCGACGCCTGAGGGCGCCAGCAGGGTCCGACCCTCCTGCTCCGTCCCCGCCCCTGTCCTCGGGCCCGGCCAGCGCCGCGGCCTCTGGCTCCGCCTCCACACGGGCCCGCAAGCAGGCACCGCCCCCGACTCTGCCCCCAGCCCCGGCTCGGGCCCGGCCCCCGCGAGCACGGCGCGCGCCTCCGGCTCCTGTGGCCGCGCGCTGGCCTGGAGGCTGACCTGGAGGCTCATCTGGAGGCCGAGCTGACCCGGCAGGCCTTGCGCGGGCAACATGGCGGCGCCCGGCGAGCGGGGCCGCTTCCACGGCGGGAACCTCTTCTTCCTGCCGGGGGGCGCGCGCTCCGAGATGATGGACGACCTGGCGACCGACGCGCGGGGCCGGGGCGCGGGGCGGAGAGACGCGGCCGCCTCGGCCTCGACGCCAGCCCAGGCGCCGACCTCCGATTCTCCTGTCGCCGAGGACGCCTCCCGGAGGCGGCCGTGCCGGGCCTGCGTCGACTTCAAGACGTGGATGCGGACGCAGCAGAAGGTGCAGTTCCCTGCCCGATTTCTCCCAGCCCCGCGCAGCCCCTGTCCCCGCCCCCGCCCAGGTACCCCGGCAGAGCTTCCCAGGGTTGCCTGTCCCTGAACCTTGCCCCCCGGGTAGGCCCGGCCTTACAGCCTTCATCCGCGCGTGGGTTGGATCGTCTGCAGGACTTTGGCCGGAGTCCAGTGGGCCACCGGCTGGGCCGTACAGTGGGGAGCTTTGGGCGCCTTTGTTCGGAGAATGAACTCACTCTCGGTCGGCCTGCTTCCGCAGCGGGACACCAAGTTTAGGGAGGACTGCCCGCCGGATCGCGAGGAACTGGGCCGCCACAGCTGGGCTGTCCTCCACACCCTGGCCGCCTACTACCCCGACCTGCCCACCCCAGAACAGCAGCAAGACATGGCCCAGTTCATACATTTATTTTCTAAGTTTTACCCCTGTGAGGAGTGTGCTGAAGACCTAAGAAAAAGGTAAGATGTGTTTGCACGCAGCAGAGCTTTGCACTGGAGCCTGGGCCTGGGGCTCCTGGCTGACGTTATAGCGGGGAACGTAGAGAAACGGATGCAGAGGTGGCAGAAGTTTGCTGAGGAGCAGGGACCTCCAACAGGTGAGGACTGGGGCTATCTGAGCCTCCTCCTCTCGTCTCAGAAGCCAAGCTGTCGGGATCTGCTGCTGGGTACTGCTCCTGCCACAGCCACAGGGCTTCCAGGAAGGGATTCCCTGCCTTGTCTGGCACTGAAGGCGGTTTCCCGCAAGTTAGGGAAGACTCCACTTTGCCTGACTTCTAGAGTAGGACTTCTGGTTTTAAAATCTTGGAAATCCACTGCTTTTGCTCCCAAGAGCCATCTCTTCCTCACTGAGGGATCCAAGAGCCAGCACTGGCCCTTGCAGGTGTTTCTAGGCCAGATGTATAGGGTAGAGCCGCCATTGTTGCTATAAGGCTGGTCAGTTAGAATGAAGTCTCTTGCTGAACTGACGCACCAGGGCCTGCCCTCAGATGCTAAGAAACAAGTCCAGTTTTCAGTTACAAGGCTGTGCCCAGCCCCACCCAGGCCACACTCTGCCTGAGGCCAGGGACACTGGATGCCGCTTCCTGGGTGTTAGGAGCTTATAAAATTGCCAGGTCTGTGCTGTAATGTGTTGCCTTGAGGCCTCGTTGGAGTTTGCCAAGCTGTCCAGGTGGGTGTTTGCGCAGCCCTGGGAGTTCATCACACCCGGGGAGCTGCAGGGTCAGCCCTGTTCTGGGAGTGCCTGTACCTTGGAGCATAAGGGCACTCCCAGGTGTAGTTCACAGCAGTGCCCCAGCTCTCCTTCCTTGACAGCAGACAGGGAACTGGCAGGGGCAGTGGAGCCGCTGCGTCCTCTCATTCTTTACCTGCTCTCCCTACACAGGCTGTGCAGGAACCACCCAGACACCCGCACCCGGGCATGCTTCACACAGTGGCTGTGCCACCTGCACAATGAAGTGAACCGCAAGCTGGGCAAGCCTGACTTCGACTGCTCAAAAGTGGATGAGCGCTGGCGCGACGGCTGGAAGGATGGCTCCTGTGACTAGAGGGTGGTCAGCCAGAGCTCATGGGACAGCTAGCCAGGCATGGTTGGATAGGGGCAGGGCACTCATTAAAGTGCATCACAGCCAGAGCCTGTTGTGTCTCAGTTGGGTGGTCCCCAGGACACTGCCTGTGGGGACCTGCCCTGCCCCTCTTAGGTTTGGAGCAGAAGTGGAGGTGCCCACAGCAGGTACCCACTGGCCCCCTCCTCAGTGGAGACCCCAAGGAGCTGCAGCTGAACTGCAGGGGAGGGAAGGAGGAGCAGCCTGGGCTGCCCCTTGACATTCAGGATGTAGCTTCCTGCCCACCGCATACCCTGGCGCCTCACTCCTCACACGGGAAGACAGCGGGCCTGGCTGGGCATCCCTGTGCCTGTCCCTGGCGGCCAGGCCATTGCCTTCCCACTATGCAGCCAGGGATGCCCCTGCCCCCCATGGCTCTGTGCTGCTCACTTTAGGGGGCTCAATTCTCCACTCTGCTCAGTCCCTACAGGGAAAGCTCAGGTCGGGTCTTTCTGAGGGTCCACCAGCCATCCTACCCTCTCCCTGCCTGGCACATGCCTGCCAGCGTTGTGTCATGCCTGTCCACAGGGGATTCGTGGGGCTCACTTCATCAGAGTTTGAAGCCCAAATGAAACGCTGAAGTGACTGAGAACCTGGCTTCAGTATATTTTCTGCTGGGGCTTAATAAAGCAGTAGACAGGGCTTGTTCCATCCCTCTGTGCTCAGCTGCATTTCCTGCTGGGGTCCTGGTTCCTCAGGAGAGAGAGACCACAGGGTGAGAGTGAGCCAGGAACAGCAAGGACGTTGATTGGTTGGGGCAGGGGGGCCAGAGTAGCTGATGTAGGAGTACTGGGAGGCCAGACGGCACGAGGTCTCCAAGGCCCCAGCAAAGCCATGGCTTCTACCCCTAGTTCCCCTGACAGGAAGTTCTTGGCGGGTTTGGAGCCAGGGGATGGCATGGAGTGATGTGGCTTTGAAGGGTCCTCTGGCTGCTGAGCTGGGATGAGGCAGGTAAGGGTGGAACAGGAGGGGTGGGGAGGAAGCCGGGGCAGTCACCGAGTGACCACCAAGAGGAAGACCCACCCCACGGCGGGGACAGATGCGGGGTACGTTAAAGGGAGAGCCAGAGAACTCATGGGGTGAGGATGGAGTCCGAGGAGACTGCTGGGAGCCGCCGTGTGGGTCAGAGATGGAGAAGGCTGAGTGCAGCAAGGTGGGGGGTGACTGGGACCCAGCCTTTGGGCCTCCCCAGCCAGAGCAGCCCAGCAACAGTGTGTCCTGTGGTCATAAAACTCCAGGGACCTCTATCCTCCAGGAGTCTCAGCCTTTCCCTGGGCGCAGGCCCACCTTGGCATGGCCGCCTCAGGCCTCCATGGAGGGAGCTGCTATGTCCCCACCAGATTGGCCCCGTGCGGCTGCTGGCTTCTGTAGAGGCTGCCCAGAGGGGCCAGGTGGCACAAATAAGAGAGGGGAGATGGGGGGCAGCCAGGAGAGGAGGTGTCCCTTCCTCGCCCAGACACAGCGCGCTTCTCTCTGGCCTTTCCCGAGGCCTGTGAGTGCCTCAGGAAGCAGCTGGGCCCTCTGGGAAGGCTGTGTTCAGCTTAGGAACATACCGCCTGTATCTGCTGTCCCTCCCCTGCCCCCCTGCCCCCCCCACCGCCTTCCCTTTTTCCCTGTCTTCCTTAAAGTTTCACTCCTGAATAAAACTTCACTTTGCCTTAGAATCTGTTTTTCTTTTTGTTGTTGTTTTGTTTTTCTGAGACAGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGAGCAGTCTCGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCAATTTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATCACAGGCGCCCACCACCACCCCCTGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGAACCACCCACCTCAGCTTCCCAAGGTGCT 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GTGCGCCGCGGATCGACGCCTGAGGGCGCCAGCAGGGTCCGACCCTCCTGCTCCGTCCCCGCCCCTGTCCTCGGGCCCGGCCAGCGCCGCGGCCTCTGGCTCCGCCTCCACACGGGCCCGCAAGCAGGCACCGCCCCCGACTCTGCCCCCAGCCCCGGCTCGGGCCCGGCCCCCGCGAGCACGGCGCGCGCCTCCGGCTCCTGTGGCCGCGCGCTGGCCTGGAGGCTGACCTGGAGGCTCATCTGGAGGCCGAGCTGACCCGGCAGGCCTTGCGCGGGCAACATGGCGGCGCCCGGCGAGCGGGGCCGCTTCCACGGCGGGAACCTCTTCTTCCTGCCGGGGGGCGCGCGCTCCGAGATGATGGACGACCTGGCGACCGACGCGCGGGGCCGGGGCGCGGGGCGGAGAGACGCGGCCGCCTCGGCCTCGACGCCAGCCCAGGCGCCGACCTCCGATTCTCCTGTCGCCGAGGACGCCTCCCGGAGGCGGCCGTGCCGGGCCTGCGTCGACTTCAAGACGTGGATGCGGACGCAGCAGAAGGTGCAGTTCCCTGCCCGATTTCTCCCAGCCCCGCGCAGCCCCTGTCCCCGCCCCCGCCCAGGTACCCCGGCAGAGCTTCCCAGGGTTGCCTGTCCCTGAACCTTGCCCCCCGGGTAGGCCCGGCCTTACAGCCTTCATCCGCGCGTGGGTTGGATCGTCTGCAGGACTTTGGCCGGAGTCCAGTGGGCCACCGGCTGGGCCGTACAGTGGGGAGCTTTGGGCGCCTTTGTTCGGAGAATGAACTCACTCTCGGTCGGCCTGCTTCCGCAGCGGGACACCAAGTTTAGGGAGGACTGCCCGCCGGATCGCGAGGAACTGGGCCGCCACAGCTGGGCTGTCCTCCACACCCTGGCCGCCTACTACCCCGACCTGCCCACCCCAGAACAGCAGCAAGACATGGCCCAGTTCATACATTTATTTTCTAAGTTTTACCCCTGTGAGGAGTGTGCTGAAGACCTAAGAAAAAGGTAAGATGTGTTTGCACGCAGCAGAGCTTTGCACTGGAGCCTGGGCCTGGGGCTCCTGGCTGACGTTATAGCGGGGAACGTAGAGAAACGGATGCAGAGGTGGCAGAAGTTTGCTGAGGAGCAGGGACCTCCAACAGGTGAGGACTGGGGCTATCTGAGCCTCCTCCTCTCGTCTCAGAAGCCAAGCTGTCGGGATCTGCTGCTGGGTACTGCTCCTGCCACAGCCACAGGGCTTCCAGGAAGGGATTCCCTGCCTTGTCTGGCACTGAAGGCGGTTTCCCGCAAGTTAGGGAAGACTCCACTTTGCCTGACTTCTAGAGTAGGACTTCTGGTTTTAAAATCTTGGAAATCCACTGCTTTTGCTCCCAAGAGCCATCTCTTCCTCACTGAGGGATCCAAGAGCCAGCACTGGCCCTTGCAGGTGTTTCTAGGCCAGATGTATAGGGTAGAGCCGCCATTGTTGCTATAAGGCTGGTCAGTTAGAATGAAGTCTCTTGCTGAACTGACGCACCAGGGCCTGCCCTCAGATGCTAAGAAACAAGTCCAGTTTTCAGTTACAAGGCTGTGCCCAGCCCCACCCAGGCCACACTCTGCCTGAGGCCAGGGACACTGGATGCCGCTTCCTGGGTGTTAGGAGCTTATAAAATTGCCAGGTCTGTGCTGTAATGTGTTGCCTTGAGGCCTCGTTGGAGTTTGCCAAGCTGTCCAGGTGGGTGTTTGCGCAGCCCTGGGAGTTCATCACACCCGGGGAGCTGCAGGGTCAGCCCTGTTCTGGGAGTGCCTGTACCTTGGAGCATAAGGGCACTCCCAGGTGTAGTTCACAGCAGTGCCCCAGCTCTCCTTCCTTGACAGCAGACAGGGAACTGGCAGGGGCAGTGGAGCCGCTGCGTCCTCTCATTCTTTACCTGCTCTCCCTACACAGGCTGTGCAGGAACCACCCAGACACCCGCACCCGGGCATGCTTCACACAGTGGCTGTGCCACCTGCACAATGAAGTGAACCGCAAGCTGGGCAAGCCTGACTTCGACTGCTCAAAAGTGGGTGAGCGCTGGCGCGACGGCTGGAAGGATGGCTCCTGTGACTAGAGGGTGGTCAGCCAGAGCTCATGGGACAGCTAGCCAGGCATGGTTGGATAGGGGCAGGGCACTCATTAAAGTGCATCACAGCCAGAGCCTGTTGTGTCTCAGTTGGGTGGTCCCCAGGACACTGCCTGTGGGGACCTGCCCTGCCCCTCTTAGGTTTGGAGCAGAAGTGGAGGTGCCCACAGCAGGTACCCACTGGCCCCCTCCTCAGTGGAGACCCCAAGGAGCTGCAGCTGAACTGCAGGGGAGGGAAGGAGGAGCAGCCTGGGCTGCCCCTTGACATTCAGGATGTAGCTTCCTGCCCACCGCATACCCTGGCGCCTCACTCCTCACACGGGAAGACAGCGGGCCTGGCTGGGCATCCCTGTGCCTGTCCCTGGCGGCCAGGCCATTGCCTTCCCACTATGCAGCCAGGGATGCCCCTGCCCCCCATGGCTCTGTGCTGCTCACTTTAGGGGGCTCAATTCTCCACTCTGCTCAGTCCCTACAGGGAAAGCTCAGGTCGGGTCTTTCTGAGGGTCCACCAGCCATCCTACCCTCTCCCTGCCTGGCACATGCCTGCCAGCGTTGTGTCATGCCTGTCCACAGGGGATTCGTGGGGCTCACTTCATCAGAGTTTGAAGCCCAAATGAAACGCTGAAGTGACTGAGAACCTGGCTTCAGTATATTTTCTGCTGGGGCTTAATAAAGCAGTAGACAGGGCTTGTTCCATCCCTCTGTGCTCAGCTGCATTTCCTGCTGGGGTCCTGGTTCCTCAGGAGAGAGAGACCACAGGGTGAGAGTGAGCCAGGAACAGCAAGGACGTTGATTGGTTGGGGCAGGGGGGCCAGAGTAGCTGATGTAGGAGTACTGGGAGGCCAGACGGCACGAGGTCTCCAAGGCCCCAGCAAAGCCATGGCTTCTACCCCTAGTTCCCCTGACAGGAAGTTCTTGGCGGGTTTGGAGCCAGGGGATGGCATGGAGTGATGTGGCTTTGAAGGGTCCTCTGGCTGCTGAGCTGGGATGAGGCAGGTAAGGGTGGAACAGGAGGGGTGGGGAGGAAGCCGGGGCAGTCACCGAGTGACCACCAAGAGGAAGACCCACCCCACGGCGGGGACAGATGCGGGGTACGTTAAAGGGAGAGCCAGAGAACTCATGGGGTGAGGATGGAGTCCGAGGAGACTGCTGGGAGCCGCCGTGTGGGTCAGAGATGGAGAAGGCTGAGTGCAGCAAGGTGGGGGGTGACTGGGACCCAGCCTTTGGGCCTCCCCAGCCAGAGCAGCCCAGCAACAGTGTGTCCTGTGGTCATAAAACTCCAGGGACCTCTATCCTCCAGGAGTCTCAGCCTTTCCCTGGGCGCAGGCCCACCTTGGCATGGCCGCCTCAGGCCTCCATGGAGGGAGCTGCTATGTCCCCACCAGATTGGCCCCGTGCGGCTGCTGGCTTCTGTAGAGGCTGCCCAGAGGGGCCAGGTGGCACAAATAAGAGAGGGGAGATGGGGGGCAGCCAGGAGAGGAGGTGTCCCTTCCTCGCCCAGACACAGCGCGCTTCTCTCTGGCCTTTCCCGAGGCCTGTGAGTGCCTCAGGAAGCAGCTGGGCCCTCTGGGAAGGCTGTGTTCAGCTTAGGAACATACCGCCTGTATCTGCTGTCCCTCCCCTGCCCCCCTGCCCCCCCCACCGCCTTCCCTTTTTCCCTGTCTTCCTTAAAGTTTCACTCCTGAATAAAACTTCACTTTGCCTTAGAATCTGTTTTTCTTTTTGTTGTTGTTTTGTTTTTCTGAGACAGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGAGCAGTCTCGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCAATTTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATCACAGGCGCCCACCACCACCCCCTGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGAACCACCCACCTCAGCTTCCCAAGGTGCT 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Task1_train_22072 | This mutation is located in gene GFER (growth factor, augmenter of liver regeneration) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | CGCGGATCGACGCCTGAGGGCGCCAGCAGGGTCCGACCCTCCTGCTCCGTCCCCGCCCCTGTCCTCGGGCCCGGCCAGCGCCGCGGCCTCTGGCTCCGCCTCCACACGGGCCCGCAAGCAGGCACCGCCCCCGACTCTGCCCCCAGCCCCGGCTCGGGCCCGGCCCCCGCGAGCACGGCGCGCGCCTCCGGCTCCTGTGGCCGCGCGCTGGCCTGGAGGCTGACCTGGAGGCTCATCTGGAGGCCGAGCTGACCCGGCAGGCCTTGCGCGGGCAACATGGCGGCGCCCGGCGAGCGGGGCCGCTTCCACGGCGGGAACCTCTTCTTCCTGCCGGGGGGCGCGCGCTCCGAGATGATGGACGACCTGGCGACCGACGCGCGGGGCCGGGGCGCGGGGCGGAGAGACGCGGCCGCCTCGGCCTCGACGCCAGCCCAGGCGCCGACCTCCGATTCTCCTGTCGCCGAGGACGCCTCCCGGAGGCGGCCGTGCCGGGCCTGCGTCGACTTCAAGACGTGGATGCGGACGCAGCAGAAGGTGCAGTTCCCTGCCCGATTTCTCCCAGCCCCGCGCAGCCCCTGTCCCCGCCCCCGCCCAGGTACCCCGGCAGAGCTTCCCAGGGTTGCCTGTCCCTGAACCTTGCCCCCCGGGTAGGCCCGGCCTTACAGCCTTCATCCGCGCGTGGGTTGGATCGTCTGCAGGACTTTGGCCGGAGTCCAGTGGGCCACCGGCTGGGCCGTACAGTGGGGAGCTTTGGGCGCCTTTGTTCGGAGAATGAACTCACTCTCGGTCGGCCTGCTTCCGCAGCGGGACACCAAGTTTAGGGAGGACTGCCCGCCGGATCGCGAGGAACTGGGCCGCCACAGCTGGGCTGTCCTCCACACCCTGGCCGCCTACTACCCCGACCTGCCCACCCCAGAACAGCAGCAAGACATGGCCCAGTTCATACATTTATTTTCTAAGTTTTACCCCTGTGAGGAGTGTGCTGAAGACCTAAGAAAAAGGTAAGATGTGTTTGCACGCAGCAGAGCTTTGCACTGGAGCCTGGGCCTGGGGCTCCTGGCTGACGTTATAGCGGGGAACGTAGAGAAACGGATGCAGAGGTGGCAGAAGTTTGCTGAGGAGCAGGGACCTCCAACAGGTGAGGACTGGGGCTATCTGAGCCTCCTCCTCTCGTCTCAGAAGCCAAGCTGTCGGGATCTGCTGCTGGGTACTGCTCCTGCCACAGCCACAGGGCTTCCAGGAAGGGATTCCCTGCCTTGTCTGGCACTGAAGGCGGTTTCCCGCAAGTTAGGGAAGACTCCACTTTGCCTGACTTCTAGAGTAGGACTTCTGGTTTTAAAATCTTGGAAATCCACTGCTTTTGCTCCCAAGAGCCATCTCTTCCTCACTGAGGGATCCAAGAGCCAGCACTGGCCCTTGCAGGTGTTTCTAGGCCAGATGTATAGGGTAGAGCCGCCATTGTTGCTATAAGGCTGGTCAGTTAGAATGAAGTCTCTTGCTGAACTGACGCACCAGGGCCTGCCCTCAGATGCTAAGAAACAAGTCCAGTTTTCAGTTACAAGGCTGTGCCCAGCCCCACCCAGGCCACACTCTGCCTGAGGCCAGGGACACTGGATGCCGCTTCCTGGGTGTTAGGAGCTTATAAAATTGCCAGGTCTGTGCTGTAATGTGTTGCCTTGAGGCCTCGTTGGAGTTTGCCAAGCTGTCCAGGTGGGTGTTTGCGCAGCCCTGGGAGTTCATCACACCCGGGGAGCTGCAGGGTCAGCCCTGTTCTGGGAGTGCCTGTACCTTGGAGCATAAGGGCACTCCCAGGTGTAGTTCACAGCAGTGCCCCAGCTCTCCTTCCTTGACAGCAGACAGGGAACTGGCAGGGGCAGTGGAGCCGCTGCGTCCTCTCATTCTTTACCTGCTCTCCCTACACAGGCTGTGCAGGAACCACCCAGACACCCGCACCCGGGCATGCTTCACACAGTGGCTGTGCCACCTGCACAATGAAGTGAACCGCAAGCTGGGCAAGCCTGACTTCGACTGCTCAAAAGTGGATGAGCGCTGGCGCGACGGCTGGAAGGATGGCTCCTGTGACTAGAGGGTGGTCAGCCAGAGCTCATGGGACAGCTAGCCAGGCATGGTTGGATAGGGGCAGGGCACTCATTAAAGTGCATCACAGCCAGAGCCTGTTGTGTCTCAGTTGGGTGGTCCCCAGGACACTGCCTGTGGGGACCTGCCCTGCCCCTCTTAGGTTTGGAGCAGAAGTGGAGGTGCCCACAGCAGGTACCCACTGGCCCCCTCCTCAGTGGAGACCCCAAGGAGCTGCAGCTGAACTGCAGGGGAGGGAAGGAGGAGCAGCCTGGGCTGCCCCTTGACATTCAGGATGTAGCTTCCTGCCCACCGCATACCCTGGCGCCTCACTCCTCACACGGGAAGACAGCGGGCCTGGCTGGGCATCCCTGTGCCTGTCCCTGGCGGCCAGGCCATTGCCTTCCCACTATGCAGCCAGGGATGCCCCTGCCCCCCATGGCTCTGTGCTGCTCACTTTAGGGGGCTCAATTCTCCACTCTGCTCAGTCCCTACAGGGAAAGCTCAGGTCGGGTCTTTCTGAGGGTCCACCAGCCATCCTACCCTCTCCCTGCCTGGCACATGCCTGCCAGCGTTGTGTCATGCCTGTCCACAGGGGATTCGTGGGGCTCACTTCATCAGAGTTTGAAGCCCAAATGAAACGCTGAAGTGACTGAGAACCTGGCTTCAGTATATTTTCTGCTGGGGCTTAATAAAGCAGTAGACAGGGCTTGTTCCATCCCTCTGTGCTCAGCTGCATTTCCTGCTGGGGTCCTGGTTCCTCAGGAGAGAGAGACCACAGGGTGAGAGTGAGCCAGGAACAGCAAGGACGTTGATTGGTTGGGGCAGGGGGGCCAGAGTAGCTGATGTAGGAGTACTGGGAGGCCAGACGGCACGAGGTCTCCAAGGCCCCAGCAAAGCCATGGCTTCTACCCCTAGTTCCCCTGACAGGAAGTTCTTGGCGGGTTTGGAGCCAGGGGATGGCATGGAGTGATGTGGCTTTGAAGGGTCCTCTGGCTGCTGAGCTGGGATGAGGCAGGTAAGGGTGGAACAGGAGGGGTGGGGAGGAAGCCGGGGCAGTCACCGAGTGACCACCAAGAGGAAGACCCACCCCACGGCGGGGACAGATGCGGGGTACGTTAAAGGGAGAGCCAGAGAACTCATGGGGTGAGGATGGAGTCCGAGGAGACTGCTGGGAGCCGCCGTGTGGGTCAGAGATGGAGAAGGCTGAGTGCAGCAAGGTGGGGGGTGACTGGGACCCAGCCTTTGGGCCTCCCCAGCCAGAGCAGCCCAGCAACAGTGTGTCCTGTGGTCATAAAACTCCAGGGACCTCTATCCTCCAGGAGTCTCAGCCTTTCCCTGGGCGCAGGCCCACCTTGGCATGGCCGCCTCAGGCCTCCATGGAGGGAGCTGCTATGTCCCCACCAGATTGGCCCCGTGCGGCTGCTGGCTTCTGTAGAGGCTGCCCAGAGGGGCCAGGTGGCACAAATAAGAGAGGGGAGATGGGGGGCAGCCAGGAGAGGAGGTGTCCCTTCCTCGCCCAGACACAGCGCGCTTCTCTCTGGCCTTTCCCGAGGCCTGTGAGTGCCTCAGGAAGCAGCTGGGCCCTCTGGGAAGGCTGTGTTCAGCTTAGGAACATACCGCCTGTATCTGCTGTCCCTCCCCTGCCCCCCTGCCCCCCCCACCGCCTTCCCTTTTTCCCTGTCTTCCTTAAAGTTTCACTCCTGAATAAAACTTCACTTTGCCTTAGAATCTGTTTTTCTTTTTGTTGTTGTTTTGTTTTTCTGAGACAGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGAGCAGTCTCGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCAATTTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATCACAGGCGCCCACCACCACCCCCTGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGAACCACCCACCTCAGCTTCCCAAGGTGCTGAGATT | CGCGGATCGACGCCTGAGGGCGCCAGCAGGGTCCGACCCTCCTGCTCCGTCCCCGCCCCTGTCCTCGGGCCCGGCCAGCGCCGCGGCCTCTGGCTCCGCCTCCACACGGGCCCGCAAGCAGGCACCGCCCCCGACTCTGCCCCCAGCCCCGGCTCGGGCCCGGCCCCCGCGAGCACGGCGCGCGCCTCCGGCTCCTGTGGCCGCGCGCTGGCCTGGAGGCTGACCTGGAGGCTCATCTGGAGGCCGAGCTGACCCGGCAGGCCTTGCGCGGGCAACATGGCGGCGCCCGGCGAGCGGGGCCGCTTCCACGGCGGGAACCTCTTCTTCCTGCCGGGGGGCGCGCGCTCCGAGATGATGGACGACCTGGCGACCGACGCGCGGGGCCGGGGCGCGGGGCGGAGAGACGCGGCCGCCTCGGCCTCGACGCCAGCCCAGGCGCCGACCTCCGATTCTCCTGTCGCCGAGGACGCCTCCCGGAGGCGGCCGTGCCGGGCCTGCGTCGACTTCAAGACGTGGATGCGGACGCAGCAGAAGGTGCAGTTCCCTGCCCGATTTCTCCCAGCCCCGCGCAGCCCCTGTCCCCGCCCCCGCCCAGGTACCCCGGCAGAGCTTCCCAGGGTTGCCTGTCCCTGAACCTTGCCCCCCGGGTAGGCCCGGCCTTACAGCCTTCATCCGCGCGTGGGTTGGATCGTCTGCAGGACTTTGGCCGGAGTCCAGTGGGCCACCGGCTGGGCCGTACAGTGGGGAGCTTTGGGCGCCTTTGTTCGGAGAATGAACTCACTCTCGGTCGGCCTGCTTCCGCAGCGGGACACCAAGTTTAGGGAGGACTGCCCGCCGGATCGCGAGGAACTGGGCCGCCACAGCTGGGCTGTCCTCCACACCCTGGCCGCCTACTACCCCGACCTGCCCACCCCAGAACAGCAGCAAGACATGGCCCAGTTCATACATTTATTTTCTAAGTTTTACCCCTGTGAGGAGTGTGCTGAAGACCTAAGAAAAAGGTAAGATGTGTTTGCACGCAGCAGAGCTTTGCACTGGAGCCTGGGCCTGGGGCTCCTGGCTGACGTTATAGCGGGGAACGTAGAGAAACGGATGCAGAGGTGGCAGAAGTTTGCTGAGGAGCAGGGACCTCCAACAGGTGAGGACTGGGGCTATCTGAGCCTCCTCCTCTCGTCTCAGAAGCCAAGCTGTCGGGATCTGCTGCTGGGTACTGCTCCTGCCACAGCCACAGGGCTTCCAGGAAGGGATTCCCTGCCTTGTCTGGCACTGAAGGCGGTTTCCCGCAAGTTAGGGAAGACTCCACTTTGCCTGACTTCTAGAGTAGGACTTCTGGTTTTAAAATCTTGGAAATCCACTGCTTTTGCTCCCAAGAGCCATCTCTTCCTCACTGAGGGATCCAAGAGCCAGCACTGGCCCTTGCAGGTGTTTCTAGGCCAGATGTATAGGGTAGAGCCGCCATTGTTGCTATAAGGCTGGTCAGTTAGAATGAAGTCTCTTGCTGAACTGACGCACCAGGGCCTGCCCTCAGATGCTAAGAAACAAGTCCAGTTTTCAGTTACAAGGCTGTGCCCAGCCCCACCCAGGCCACACTCTGCCTGAGGCCAGGGACACTGGATGCCGCTTCCTGGGTGTTAGGAGCTTATAAAATTGCCAGGTCTGTGCTGTAATGTGTTGCCTTGAGGCCTCGTTGGAGTTTGCCAAGCTGTCCAGGTGGGTGTTTGCGCAGCCCTGGGAGTTCATCACACCCGGGGAGCTGCAGGGTCAGCCCTGTTCTGGGAGTGCCTGTACCTTGGAGCATAAGGGCACTCCCAGGTGTAGTTCACAGCAGTGCCCCAGCTCTCCTTCCTTGACAGCAGACAGGGAACTGGCAGGGGCAGTGGAGCCGCTGCGTCCTCTCATTCTTTACCTGCTCTCCCTACACAGGCTGTGCAGGAACCACCCAGACACCCGCACCCGGGCATGCTTCACACAGTGGCTGTGCCACCTGCACAATGAAGTGAACCGCAAGCTGGGCAAGCCTGACTTCGACTGCTCAAAAGTGGATGAGCACTGGCGCGACGGCTGGAAGGATGGCTCCTGTGACTAGAGGGTGGTCAGCCAGAGCTCATGGGACAGCTAGCCAGGCATGGTTGGATAGGGGCAGGGCACTCATTAAAGTGCATCACAGCCAGAGCCTGTTGTGTCTCAGTTGGGTGGTCCCCAGGACACTGCCTGTGGGGACCTGCCCTGCCCCTCTTAGGTTTGGAGCAGAAGTGGAGGTGCCCACAGCAGGTACCCACTGGCCCCCTCCTCAGTGGAGACCCCAAGGAGCTGCAGCTGAACTGCAGGGGAGGGAAGGAGGAGCAGCCTGGGCTGCCCCTTGACATTCAGGATGTAGCTTCCTGCCCACCGCATACCCTGGCGCCTCACTCCTCACACGGGAAGACAGCGGGCCTGGCTGGGCATCCCTGTGCCTGTCCCTGGCGGCCAGGCCATTGCCTTCCCACTATGCAGCCAGGGATGCCCCTGCCCCCCATGGCTCTGTGCTGCTCACTTTAGGGGGCTCAATTCTCCACTCTGCTCAGTCCCTACAGGGAAAGCTCAGGTCGGGTCTTTCTGAGGGTCCACCAGCCATCCTACCCTCTCCCTGCCTGGCACATGCCTGCCAGCGTTGTGTCATGCCTGTCCACAGGGGATTCGTGGGGCTCACTTCATCAGAGTTTGAAGCCCAAATGAAACGCTGAAGTGACTGAGAACCTGGCTTCAGTATATTTTCTGCTGGGGCTTAATAAAGCAGTAGACAGGGCTTGTTCCATCCCTCTGTGCTCAGCTGCATTTCCTGCTGGGGTCCTGGTTCCTCAGGAGAGAGAGACCACAGGGTGAGAGTGAGCCAGGAACAGCAAGGACGTTGATTGGTTGGGGCAGGGGGGCCAGAGTAGCTGATGTAGGAGTACTGGGAGGCCAGACGGCACGAGGTCTCCAAGGCCCCAGCAAAGCCATGGCTTCTACCCCTAGTTCCCCTGACAGGAAGTTCTTGGCGGGTTTGGAGCCAGGGGATGGCATGGAGTGATGTGGCTTTGAAGGGTCCTCTGGCTGCTGAGCTGGGATGAGGCAGGTAAGGGTGGAACAGGAGGGGTGGGGAGGAAGCCGGGGCAGTCACCGAGTGACCACCAAGAGGAAGACCCACCCCACGGCGGGGACAGATGCGGGGTACGTTAAAGGGAGAGCCAGAGAACTCATGGGGTGAGGATGGAGTCCGAGGAGACTGCTGGGAGCCGCCGTGTGGGTCAGAGATGGAGAAGGCTGAGTGCAGCAAGGTGGGGGGTGACTGGGACCCAGCCTTTGGGCCTCCCCAGCCAGAGCAGCCCAGCAACAGTGTGTCCTGTGGTCATAAAACTCCAGGGACCTCTATCCTCCAGGAGTCTCAGCCTTTCCCTGGGCGCAGGCCCACCTTGGCATGGCCGCCTCAGGCCTCCATGGAGGGAGCTGCTATGTCCCCACCAGATTGGCCCCGTGCGGCTGCTGGCTTCTGTAGAGGCTGCCCAGAGGGGCCAGGTGGCACAAATAAGAGAGGGGAGATGGGGGGCAGCCAGGAGAGGAGGTGTCCCTTCCTCGCCCAGACACAGCGCGCTTCTCTCTGGCCTTTCCCGAGGCCTGTGAGTGCCTCAGGAAGCAGCTGGGCCCTCTGGGAAGGCTGTGTTCAGCTTAGGAACATACCGCCTGTATCTGCTGTCCCTCCCCTGCCCCCCTGCCCCCCCCACCGCCTTCCCTTTTTCCCTGTCTTCCTTAAAGTTTCACTCCTGAATAAAACTTCACTTTGCCTTAGAATCTGTTTTTCTTTTTGTTGTTGTTTTGTTTTTCTGAGACAGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGAGCAGTCTCGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCAATTTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATCACAGGCGCCCACCACCACCCCCTGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGAACCACCCACCTCAGCTTCCCAAGGTGCTGAGATT |
Task1_train_22073 | With a mutation on Chromosome 16 in gene GFER (growth factor, augmenter of liver regeneration), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Inborn genetic diseases | CGCGGATCGACGCCTGAGGGCGCCAGCAGGGTCCGACCCTCCTGCTCCGTCCCCGCCCCTGTCCTCGGGCCCGGCCAGCGCCGCGGCCTCTGGCTCCGCCTCCACACGGGCCCGCAAGCAGGCACCGCCCCCGACTCTGCCCCCAGCCCCGGCTCGGGCCCGGCCCCCGCGAGCACGGCGCGCGCCTCCGGCTCCTGTGGCCGCGCGCTGGCCTGGAGGCTGACCTGGAGGCTCATCTGGAGGCCGAGCTGACCCGGCAGGCCTTGCGCGGGCAACATGGCGGCGCCCGGCGAGCGGGGCCGCTTCCACGGCGGGAACCTCTTCTTCCTGCCGGGGGGCGCGCGCTCCGAGATGATGGACGACCTGGCGACCGACGCGCGGGGCCGGGGCGCGGGGCGGAGAGACGCGGCCGCCTCGGCCTCGACGCCAGCCCAGGCGCCGACCTCCGATTCTCCTGTCGCCGAGGACGCCTCCCGGAGGCGGCCGTGCCGGGCCTGCGTCGACTTCAAGACGTGGATGCGGACGCAGCAGAAGGTGCAGTTCCCTGCCCGATTTCTCCCAGCCCCGCGCAGCCCCTGTCCCCGCCCCCGCCCAGGTACCCCGGCAGAGCTTCCCAGGGTTGCCTGTCCCTGAACCTTGCCCCCCGGGTAGGCCCGGCCTTACAGCCTTCATCCGCGCGTGGGTTGGATCGTCTGCAGGACTTTGGCCGGAGTCCAGTGGGCCACCGGCTGGGCCGTACAGTGGGGAGCTTTGGGCGCCTTTGTTCGGAGAATGAACTCACTCTCGGTCGGCCTGCTTCCGCAGCGGGACACCAAGTTTAGGGAGGACTGCCCGCCGGATCGCGAGGAACTGGGCCGCCACAGCTGGGCTGTCCTCCACACCCTGGCCGCCTACTACCCCGACCTGCCCACCCCAGAACAGCAGCAAGACATGGCCCAGTTCATACATTTATTTTCTAAGTTTTACCCCTGTGAGGAGTGTGCTGAAGACCTAAGAAAAAGGTAAGATGTGTTTGCACGCAGCAGAGCTTTGCACTGGAGCCTGGGCCTGGGGCTCCTGGCTGACGTTATAGCGGGGAACGTAGAGAAACGGATGCAGAGGTGGCAGAAGTTTGCTGAGGAGCAGGGACCTCCAACAGGTGAGGACTGGGGCTATCTGAGCCTCCTCCTCTCGTCTCAGAAGCCAAGCTGTCGGGATCTGCTGCTGGGTACTGCTCCTGCCACAGCCACAGGGCTTCCAGGAAGGGATTCCCTGCCTTGTCTGGCACTGAAGGCGGTTTCCCGCAAGTTAGGGAAGACTCCACTTTGCCTGACTTCTAGAGTAGGACTTCTGGTTTTAAAATCTTGGAAATCCACTGCTTTTGCTCCCAAGAGCCATCTCTTCCTCACTGAGGGATCCAAGAGCCAGCACTGGCCCTTGCAGGTGTTTCTAGGCCAGATGTATAGGGTAGAGCCGCCATTGTTGCTATAAGGCTGGTCAGTTAGAATGAAGTCTCTTGCTGAACTGACGCACCAGGGCCTGCCCTCAGATGCTAAGAAACAAGTCCAGTTTTCAGTTACAAGGCTGTGCCCAGCCCCACCCAGGCCACACTCTGCCTGAGGCCAGGGACACTGGATGCCGCTTCCTGGGTGTTAGGAGCTTATAAAATTGCCAGGTCTGTGCTGTAATGTGTTGCCTTGAGGCCTCGTTGGAGTTTGCCAAGCTGTCCAGGTGGGTGTTTGCGCAGCCCTGGGAGTTCATCACACCCGGGGAGCTGCAGGGTCAGCCCTGTTCTGGGAGTGCCTGTACCTTGGAGCATAAGGGCACTCCCAGGTGTAGTTCACAGCAGTGCCCCAGCTCTCCTTCCTTGACAGCAGACAGGGAACTGGCAGGGGCAGTGGAGCCGCTGCGTCCTCTCATTCTTTACCTGCTCTCCCTACACAGGCTGTGCAGGAACCACCCAGACACCCGCACCCGGGCATGCTTCACACAGTGGCTGTGCCACCTGCACAATGAAGTGAACCGCAAGCTGGGCAAGCCTGACTTCGACTGCTCAAAAGTGGATGAGCGCTGGCGCGACGGCTGGAAGGATGGCTCCTGTGACTAGAGGGTGGTCAGCCAGAGCTCATGGGACAGCTAGCCAGGCATGGTTGGATAGGGGCAGGGCACTCATTAAAGTGCATCACAGCCAGAGCCTGTTGTGTCTCAGTTGGGTGGTCCCCAGGACACTGCCTGTGGGGACCTGCCCTGCCCCTCTTAGGTTTGGAGCAGAAGTGGAGGTGCCCACAGCAGGTACCCACTGGCCCCCTCCTCAGTGGAGACCCCAAGGAGCTGCAGCTGAACTGCAGGGGAGGGAAGGAGGAGCAGCCTGGGCTGCCCCTTGACATTCAGGATGTAGCTTCCTGCCCACCGCATACCCTGGCGCCTCACTCCTCACACGGGAAGACAGCGGGCCTGGCTGGGCATCCCTGTGCCTGTCCCTGGCGGCCAGGCCATTGCCTTCCCACTATGCAGCCAGGGATGCCCCTGCCCCCCATGGCTCTGTGCTGCTCACTTTAGGGGGCTCAATTCTCCACTCTGCTCAGTCCCTACAGGGAAAGCTCAGGTCGGGTCTTTCTGAGGGTCCACCAGCCATCCTACCCTCTCCCTGCCTGGCACATGCCTGCCAGCGTTGTGTCATGCCTGTCCACAGGGGATTCGTGGGGCTCACTTCATCAGAGTTTGAAGCCCAAATGAAACGCTGAAGTGACTGAGAACCTGGCTTCAGTATATTTTCTGCTGGGGCTTAATAAAGCAGTAGACAGGGCTTGTTCCATCCCTCTGTGCTCAGCTGCATTTCCTGCTGGGGTCCTGGTTCCTCAGGAGAGAGAGACCACAGGGTGAGAGTGAGCCAGGAACAGCAAGGACGTTGATTGGTTGGGGCAGGGGGGCCAGAGTAGCTGATGTAGGAGTACTGGGAGGCCAGACGGCACGAGGTCTCCAAGGCCCCAGCAAAGCCATGGCTTCTACCCCTAGTTCCCCTGACAGGAAGTTCTTGGCGGGTTTGGAGCCAGGGGATGGCATGGAGTGATGTGGCTTTGAAGGGTCCTCTGGCTGCTGAGCTGGGATGAGGCAGGTAAGGGTGGAACAGGAGGGGTGGGGAGGAAGCCGGGGCAGTCACCGAGTGACCACCAAGAGGAAGACCCACCCCACGGCGGGGACAGATGCGGGGTACGTTAAAGGGAGAGCCAGAGAACTCATGGGGTGAGGATGGAGTCCGAGGAGACTGCTGGGAGCCGCCGTGTGGGTCAGAGATGGAGAAGGCTGAGTGCAGCAAGGTGGGGGGTGACTGGGACCCAGCCTTTGGGCCTCCCCAGCCAGAGCAGCCCAGCAACAGTGTGTCCTGTGGTCATAAAACTCCAGGGACCTCTATCCTCCAGGAGTCTCAGCCTTTCCCTGGGCGCAGGCCCACCTTGGCATGGCCGCCTCAGGCCTCCATGGAGGGAGCTGCTATGTCCCCACCAGATTGGCCCCGTGCGGCTGCTGGCTTCTGTAGAGGCTGCCCAGAGGGGCCAGGTGGCACAAATAAGAGAGGGGAGATGGGGGGCAGCCAGGAGAGGAGGTGTCCCTTCCTCGCCCAGACACAGCGCGCTTCTCTCTGGCCTTTCCCGAGGCCTGTGAGTGCCTCAGGAAGCAGCTGGGCCCTCTGGGAAGGCTGTGTTCAGCTTAGGAACATACCGCCTGTATCTGCTGTCCCTCCCCTGCCCCCCTGCCCCCCCCACCGCCTTCCCTTTTTCCCTGTCTTCCTTAAAGTTTCACTCCTGAATAAAACTTCACTTTGCCTTAGAATCTGTTTTTCTTTTTGTTGTTGTTTTGTTTTTCTGAGACAGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGAGCAGTCTCGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCAATTTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATCACAGGCGCCCACCACCACCCCCTGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGAACCACCCACCTCAGCTTCCCAAGGTGCTGAGATT 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CGCGGATCGACGCCTGAGGGCGCCAGCAGGGTCCGACCCTCCTGCTCCGTCCCCGCCCCTGTCCTCGGGCCCGGCCAGCGCCGCGGCCTCTGGCTCCGCCTCCACACGGGCCCGCAAGCAGGCACCGCCCCCGACTCTGCCCCCAGCCCCGGCTCGGGCCCGGCCCCCGCGAGCACGGCGCGCGCCTCCGGCTCCTGTGGCCGCGCGCTGGCCTGGAGGCTGACCTGGAGGCTCATCTGGAGGCCGAGCTGACCCGGCAGGCCTTGCGCGGGCAACATGGCGGCGCCCGGCGAGCGGGGCCGCTTCCACGGCGGGAACCTCTTCTTCCTGCCGGGGGGCGCGCGCTCCGAGATGATGGACGACCTGGCGACCGACGCGCGGGGCCGGGGCGCGGGGCGGAGAGACGCGGCCGCCTCGGCCTCGACGCCAGCCCAGGCGCCGACCTCCGATTCTCCTGTCGCCGAGGACGCCTCCCGGAGGCGGCCGTGCCGGGCCTGCGTCGACTTCAAGACGTGGATGCGGACGCAGCAGAAGGTGCAGTTCCCTGCCCGATTTCTCCCAGCCCCGCGCAGCCCCTGTCCCCGCCCCCGCCCAGGTACCCCGGCAGAGCTTCCCAGGGTTGCCTGTCCCTGAACCTTGCCCCCCGGGTAGGCCCGGCCTTACAGCCTTCATCCGCGCGTGGGTTGGATCGTCTGCAGGACTTTGGCCGGAGTCCAGTGGGCCACCGGCTGGGCCGTACAGTGGGGAGCTTTGGGCGCCTTTGTTCGGAGAATGAACTCACTCTCGGTCGGCCTGCTTCCGCAGCGGGACACCAAGTTTAGGGAGGACTGCCCGCCGGATCGCGAGGAACTGGGCCGCCACAGCTGGGCTGTCCTCCACACCCTGGCCGCCTACTACCCCGACCTGCCCACCCCAGAACAGCAGCAAGACATGGCCCAGTTCATACATTTATTTTCTAAGTTTTACCCCTGTGAGGAGTGTGCTGAAGACCTAAGAAAAAGGTAAGATGTGTTTGCACGCAGCAGAGCTTTGCACTGGAGCCTGGGCCTGGGGCTCCTGGCTGACGTTATAGCGGGGAACGTAGAGAAACGGATGCAGAGGTGGCAGAAGTTTGCTGAGGAGCAGGGACCTCCAACAGGTGAGGACTGGGGCTATCTGAGCCTCCTCCTCTCGTCTCAGAAGCCAAGCTGTCGGGATCTGCTGCTGGGTACTGCTCCTGCCACAGCCACAGGGCTTCCAGGAAGGGATTCCCTGCCTTGTCTGGCACTGAAGGCGGTTTCCCGCAAGTTAGGGAAGACTCCACTTTGCCTGACTTCTAGAGTAGGACTTCTGGTTTTAAAATCTTGGAAATCCACTGCTTTTGCTCCCAAGAGCCATCTCTTCCTCACTGAGGGATCCAAGAGCCAGCACTGGCCCTTGCAGGTGTTTCTAGGCCAGATGTATAGGGTAGAGCCGCCATTGTTGCTATAAGGCTGGTCAGTTAGAATGAAGTCTCTTGCTGAACTGACGCACCAGGGCCTGCCCTCAGATGCTAAGAAACAAGTCCAGTTTTCAGTTACAAGGCTGTGCCCAGCCCCACCCAGGCCACACTCTGCCTGAGGCCAGGGACACTGGATGCCGCTTCCTGGGTGTTAGGAGCTTATAAAATTGCCAGGTCTGTGCTGTAATGTGTTGCCTTGAGGCCTCGTTGGAGTTTGCCAAGCTGTCCAGGTGGGTGTTTGCGCAGCCCTGGGAGTTCATCACACCCGGGGAGCTGCAGGGTCAGCCCTGTTCTGGGAGTGCCTGTACCTTGGAGCATAAGGGCACTCCCAGGTGTAGTTCACAGCAGTGCCCCAGCTCTCCTTCCTTGACAGCAGACAGGGAACTGGCAGGGGCAGTGGAGCCGCTGCGTCCTCTCATTCTTTACCTGCTCTCCCTACACAGGCTGTGCAGGAACCACCCAGACACCCGCACCCGGGCATGCTTCACACAGTGGCTGTGCCACCTGCACAATGAAGTGAACCGCAAGCTGGGCAAGCCTGACTTCGACTGCTCAAAAGTGGATGAGCACTGGCGCGACGGCTGGAAGGATGGCTCCTGTGACTAGAGGGTGGTCAGCCAGAGCTCATGGGACAGCTAGCCAGGCATGGTTGGATAGGGGCAGGGCACTCATTAAAGTGCATCACAGCCAGAGCCTGTTGTGTCTCAGTTGGGTGGTCCCCAGGACACTGCCTGTGGGGACCTGCCCTGCCCCTCTTAGGTTTGGAGCAGAAGTGGAGGTGCCCACAGCAGGTACCCACTGGCCCCCTCCTCAGTGGAGACCCCAAGGAGCTGCAGCTGAACTGCAGGGGAGGGAAGGAGGAGCAGCCTGGGCTGCCCCTTGACATTCAGGATGTAGCTTCCTGCCCACCGCATACCCTGGCGCCTCACTCCTCACACGGGAAGACAGCGGGCCTGGCTGGGCATCCCTGTGCCTGTCCCTGGCGGCCAGGCCATTGCCTTCCCACTATGCAGCCAGGGATGCCCCTGCCCCCCATGGCTCTGTGCTGCTCACTTTAGGGGGCTCAATTCTCCACTCTGCTCAGTCCCTACAGGGAAAGCTCAGGTCGGGTCTTTCTGAGGGTCCACCAGCCATCCTACCCTCTCCCTGCCTGGCACATGCCTGCCAGCGTTGTGTCATGCCTGTCCACAGGGGATTCGTGGGGCTCACTTCATCAGAGTTTGAAGCCCAAATGAAACGCTGAAGTGACTGAGAACCTGGCTTCAGTATATTTTCTGCTGGGGCTTAATAAAGCAGTAGACAGGGCTTGTTCCATCCCTCTGTGCTCAGCTGCATTTCCTGCTGGGGTCCTGGTTCCTCAGGAGAGAGAGACCACAGGGTGAGAGTGAGCCAGGAACAGCAAGGACGTTGATTGGTTGGGGCAGGGGGGCCAGAGTAGCTGATGTAGGAGTACTGGGAGGCCAGACGGCACGAGGTCTCCAAGGCCCCAGCAAAGCCATGGCTTCTACCCCTAGTTCCCCTGACAGGAAGTTCTTGGCGGGTTTGGAGCCAGGGGATGGCATGGAGTGATGTGGCTTTGAAGGGTCCTCTGGCTGCTGAGCTGGGATGAGGCAGGTAAGGGTGGAACAGGAGGGGTGGGGAGGAAGCCGGGGCAGTCACCGAGTGACCACCAAGAGGAAGACCCACCCCACGGCGGGGACAGATGCGGGGTACGTTAAAGGGAGAGCCAGAGAACTCATGGGGTGAGGATGGAGTCCGAGGAGACTGCTGGGAGCCGCCGTGTGGGTCAGAGATGGAGAAGGCTGAGTGCAGCAAGGTGGGGGGTGACTGGGACCCAGCCTTTGGGCCTCCCCAGCCAGAGCAGCCCAGCAACAGTGTGTCCTGTGGTCATAAAACTCCAGGGACCTCTATCCTCCAGGAGTCTCAGCCTTTCCCTGGGCGCAGGCCCACCTTGGCATGGCCGCCTCAGGCCTCCATGGAGGGAGCTGCTATGTCCCCACCAGATTGGCCCCGTGCGGCTGCTGGCTTCTGTAGAGGCTGCCCAGAGGGGCCAGGTGGCACAAATAAGAGAGGGGAGATGGGGGGCAGCCAGGAGAGGAGGTGTCCCTTCCTCGCCCAGACACAGCGCGCTTCTCTCTGGCCTTTCCCGAGGCCTGTGAGTGCCTCAGGAAGCAGCTGGGCCCTCTGGGAAGGCTGTGTTCAGCTTAGGAACATACCGCCTGTATCTGCTGTCCCTCCCCTGCCCCCCTGCCCCCCCCACCGCCTTCCCTTTTTCCCTGTCTTCCTTAAAGTTTCACTCCTGAATAAAACTTCACTTTGCCTTAGAATCTGTTTTTCTTTTTGTTGTTGTTTTGTTTTTCTGAGACAGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGAGCAGTCTCGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCAATTTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATCACAGGCGCCCACCACCACCCCCTGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGAACCACCCACCTCAGCTTCCCAAGGTGCTGAGATT 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Task1_train_22074 | This variant impacts the gene NTHL1 (nth like DNA glycosylase 1) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial adenomatous polyposis 3 | CACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCACTTCCTGCACCGTCGCCACCCCCCTCAGCCTTCTGAGGTCTCTCTCAGGCCACTGCCACCCGGCCCCCGTTGCCACAGGCAGGGCTCACCCTCCAGAAACCGACGGGGTAGATGAGCTTGCCCAGCGTGGCATCATCTGTCTGCAGGATGCTGTCCACCGTCAGGCCCCGCGCCCGCAGTCGCTGCATGGCGCCCGCCGTCACCTGGTCTTTGGTTTGGCTGGAGAGCATCAGTGACAGCAGCACCTGGTACCTGCGTACCTGCTTGTGCAGTGACAGGGACCGGGGTGGCGGCGGGTCCTGGGTGATTCCCTGGCCAGGCTCCGCCCCCCGCCCTCGACACACCCTGGTTTGTTGCCCTGGGCCACACTTGAGGCATCAGCCTCCCCCTGTGGGGTGGGGAGGTCTGGTTTGGGTATGTTTGGTCATCTACAACACCAGGACAATAATAGTACCTGACTCACTGGAGTAATGTGAAGCTTAAATGAATTATCTCAGTGCTTAGAATCGTATGTGGCCGGGCGTGGTGGCTCGCACCCGTCATCCCAGCACTTCGGGAGGCCAAGGCAGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGATCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGCGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGCAGGAGAATAATTTGAACCTCGGAGGCGAAGGTTGCAGTGAGCTAAGATTTCACCACTGCACTCCAGCCTGGGCAACAAGAGCAAGACTTGGTCTCAAAAAAAAACCCAACACGATCGTATCTGGCCCATCACTACTGAACAGCCATTGGCCACTACTATTATGATTGCTTCGTGAATCATCACACTACCCTTTAAAACAAATTTTTTTTTTTGAGATGCAGTATCACTCTTTCACCCAGGCTGAAGTGTGGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGCGATTTTCCTGCCTCGCCCTCCTAAGTAGCTGGGGTTACAGGTGCCTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCGCCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCGAAGTGCTGGGATTACAGGCCTGAACCACCATGCCTGGCCCATACTACCCATTTTACAGACAAGCAAACTGAGGCTCAGAGAGGCCTGTATCCAAGCCACCTGGTAGCAGAATAGGGATTAGAACTCAGCTTGGTCTAAGGGTTTCAGGCCCTGGGACCGTGAAGCAAAAGGAACTCTTCCTTCCTGATATCACACAAAGCCCAGGTCACGCCTGCACTGGGCAGAAGTTCGAGCACGAGGCCCTAAACCACTGGTGTCCTGACCTGCTGAGTGGCTACAGTGATGCAGGCGATGCTCTGGGGCACCGGGTGTCCATCCTCCCAAGGTGCTGTCTGCAGGGGAGGGTGCCAGCCAAAAGCCACCGGGTAGAAAGAAAACAAGGACCTTGCTAAGATGGGGGGTCATCTGGGCAGATGGGGCCCCTGCCTACCTTTGGGGGGGCACTGGAGTCATAGCAGTGCTCAGTCCCCAGATGGTCCACAGGTGCATCCTTTTTGTTCCTCATGGCACGGATGTTGACCAGCTGTTGCTGCCAGTCCTGGGGCTCCCAGACTGGCACCTTGAGGGGCTCAGCCCCCTCACCTTTCTCACTGTCCGAGCCCTCATAGGCCACACGCAGTCTCTGTGCTTTCCGCGGACGCTTCACGGGGCTGTGGCTTTTCCTCGCTTCTGCAAAAAGCACCACGCAGTCCCTCTGGTGGGGCCACAGGTGAAGGTAGGGTAGGGGTGCCATCCCGCCTGCTAGCTCACCCCTCACTCGTTCATGCCACAACTGTCCATCATCTAATACACTTGGGGTGCTCTGCCCTCTGCAGTCTGGGGTATGTGGGCCCTCCTTATGCCAGCGACCCTGACAAGGTCCATGTTAGCTCATGAGGACTCTAGCAACAGCCTGTACCAAGGTGCCCCCAATACATCTTCTATACTGCACCAGAGACAGTCTGCTAACACCCACATCAGGTTGTGTCACTCCCTTTTAAAAAATCCTGGCCGGCCGGGCGCGGTGGATCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGTGTGGTGGCAGGGGCCTATAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGGGGCGGAGGTTGCAGTGAGCTGAGATCACAACACTCCACTACAGCCTGGGTGACAGAGCAAGACCCGATCTCAAAACAAACAACAAAACCTCCTAATTGACTTCCGTTTACTGTCATAATAAACTCCAAACTCTATCCTGGCATCAAAGCTCCTGCCACCCTGGCTGGCATCACCACCTGCCTGCTCCCAGCTGCACCAGTTCCTCCTGACATAGTCTGGACTACCCCTGGGGTCCCTGGGTGCCTATGGGAATCCAGCTCTGGCCAATTCTGCAGAAGTCCCAGCGGGACTAGCGCAGAGGCCCTGTCCGTGTCCCTCACTGCTCACTGCAGTGCTTGGCCCCCAGCAGGTCCTCAACGGCTGCAGGATAAATATAATAAGTGCCATGCCCTTTCCTGTTTTCCCTCAGAGGCACCCTCCCCCGAGCTGGGGGAGCAGGCTTCTGGCTGCGTGTGTCCTTGGCACCCAGCCTCTCCGAGGACAGCAAGTTCACTGCAGGAGGGCGGGGATGGGACCCACAGAGCCTGGAGTGGAGAGTCCCGGACAGAGTGGTGGGAAAGGAAGCGTTTTCTTGCTTGGGGCGAAAGGGGGCAGCGGAGCGGAGCGCCCGAAACCCAGCCCCTGCGGACCGCAATCTTTGGGAAAAAGGCGCAAGGTGGGAACGCAGGGCCGCACGTGGGAACCGTTCGCGGCTGCCGGGTTTGCAGCCCCTGCCCGCGCAGCTGGGAGCCGCAGGAGGCGGCCCGGGACTCCAGCCTGCAGCCCCTATCCCGCCTCCTCCCACGCTCCAGCCACGGCGCGGCGCTACCTGCTGCAGCCTCTCTTCTCCGGAGAGGCCCGGGCTCCTCCCTACACCCCCGCGGCCCAGCCCCGGGTCCCAGGCTCCGGCTCCGGGTCAGCATCCTCGCGCTCAAGGCGGTCATGCCGGACTCCTGCGGACTACACATCCCGGCGGCCCATGCGGCCCCGTCACGTGATGCAAGGATCGCCGGCCTTTCCGCCAGAGGGCGGCACAGAACTACAACTCCCAGCAAGCTCCCAAGGCGGCCCTCCGCGCAATGCCGCTACCGGAAGTGCGGGTCGCGCTTCCGGCGGCGTCCCGGGGCCAGGGGGGTGCGCCTTTCTCCGCGTCGGGGCGGCCCGGAGCGCGGTGGCGCGGCGCGGGGTAAGTGGCGGTCCCCACGGGGCAAGTGGCGGTCCCCACGGGGCAGCGGCCTAGAGAGGCGGACCCCGCAGTGTCCGGGTCCCGGGCCCTCACCCGCGCCCACTGCAACCCGACTCCGGAGCTCCGAGCATCCCTTAGTTTTAAGTCATGGCGGGTGCGAACGGGTCTCTGCTGCAGGCGGCTCCGTGACAGCTCCTGCTTCACATGGGTAGAGGAGAGACGGCAAACGTCGGGGCTCCCAGGACTTCGCGGCGGCAGTCCTAAC 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CACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCAGGCAGCCTTGGCGGTGAGGAAGGGTGGGCAGGCGGCGAGGCGGGGAAGCAGAGGAAGGAAGGGAGGATGCGAACAGGAAGGCCAAGGAGCTGCTGGGACTGGGCGTCAGGCCTCAGGGCCCCACGGCCTGGGGGGGGCTTCAGGGGGACCCCCCGAGCCTGAGATGCTTGACCCTCACTTCCTGCACCGTCGCCACCCCCCTCAGCCTTCTGAGGTCTCTCTCAGGCCACTGCCACCCGGCCCCCGTTGCCACAGGCAGGGCTCACCCTCCAGAAACCGACGGGGTAGATGAGCTTGCCCAGCGTGGCATCATCTGTCTGCAGGATGCTGTCCACCGTCAGGCCCCGCGCCCGCAGTCGCTGCATGGCGCCCGCCGTCACCTGGTCTTTGGTTTGGCTGGAGAGCATCAGTGACAGCAGCACCTGGTACCTGCGTACCTGCTTGTGCAGTGACAGGGACCGGGGTGGCGGCGGGTCCTGGGTGATTCCCTGGCCAGGCTCCGCCCCCCGCCCTCGACACACCCTGGTTTGTTGCCCTGGGCCACACTTGAGGCATCAGCCTCCCCCTGTGGGGTGGGGAGGTCTGGTTTGGGTATGTTTGGTCATCTACAACACCAGGACAATAATAGTACCTGACTCACTGGAGTAATGTGAAGCTTAAATGAATTATCTCAGTGCTTAGAATCGTATGTGGCCGGGCGTGGTGGCTCGCACCCGTCATCCCAGCACTTCGGGAGGCCAAGGCAGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGATCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGCGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGCAGGAGAATAATTTGAACCTCGGAGGCGAAGGTTGCAGTGAGCTAAGATTTCACCACTGCACTCCAGCCTGGGCAACAAGAGCAAGACTTGGTCTCAAAAAAAAACCCAACACGATCGTATCTGGCCCATCACTACTGAACAGCCATTGGCCACTACTATTATGATTGCTTCGTGAATCATCACACTACCCTTTAAAACAAATTTTTTTTTTTGAGATGCAGTATCACTCTTTCACCCAGGCTGAAGTGTGGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGCGATTTTCCTGCCTCGCCCTCCTAAGTAGCTGGGGTTACAGGTGCCTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCGCCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCGAAGTGCTGGGATTACAGGCCTGAACCACCATGCCTGGCCCATACTACCCATTTTACAGACAAGCAAACTGAGGCTCAGAGAGGCCTGTATCCAAGCCACCTGGTAGCAGAATAGGGATTAGAACTCAGCTTGGTCTAAGGGTTTCAGGCCCTGGGACCGTGAAGCAAAAGGAACTCTTCCTTCCTGATATCACACAAAGCCCAGGTCACGCCTGCACTGGGCAGAAGTTCGAGCACGAGGCCCTAAACCACTGGTGTCCTGACCTGCTGAGTGGCTACAGTGATGCAGGCGATGCTCTGGGGCACCGGGTGTCCATCCTCCCAAGGTGCTGTCTGCAGGGGAGGGTGCCAGCCAAAAGCCACCGGGTAGAAAGAAAACAAGGACCTTGCTAAGATGGGGGGTCATCTGGGCAGATGGGGCCCCTGCCTACCTTTGGGGGGGCACTGGAGTCATAGCAGTGCTCAGTCCCCAGATGGTCCACAGGTGCATCCTTTTTGTTCCTCATGGCACGGATGTTGACCAGCTGTTGCTGCCAGTCCTGGGGCTCCCAGACTGGCACCTTGAGGGGCTCAGCCCCCTCACCTTACTCACTGTCCGAGCCCTCATAGGCCACACGCAGTCTCTGTGCTTTCCGCGGACGCTTCACGGGGCTGTGGCTTTTCCTCGCTTCTGCAAAAAGCACCACGCAGTCCCTCTGGTGGGGCCACAGGTGAAGGTAGGGTAGGGGTGCCATCCCGCCTGCTAGCTCACCCCTCACTCGTTCATGCCACAACTGTCCATCATCTAATACACTTGGGGTGCTCTGCCCTCTGCAGTCTGGGGTATGTGGGCCCTCCTTATGCCAGCGACCCTGACAAGGTCCATGTTAGCTCATGAGGACTCTAGCAACAGCCTGTACCAAGGTGCCCCCAATACATCTTCTATACTGCACCAGAGACAGTCTGCTAACACCCACATCAGGTTGTGTCACTCCCTTTTAAAAAATCCTGGCCGGCCGGGCGCGGTGGATCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGTGTGGTGGCAGGGGCCTATAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGGGGCGGAGGTTGCAGTGAGCTGAGATCACAACACTCCACTACAGCCTGGGTGACAGAGCAAGACCCGATCTCAAAACAAACAACAAAACCTCCTAATTGACTTCCGTTTACTGTCATAATAAACTCCAAACTCTATCCTGGCATCAAAGCTCCTGCCACCCTGGCTGGCATCACCACCTGCCTGCTCCCAGCTGCACCAGTTCCTCCTGACATAGTCTGGACTACCCCTGGGGTCCCTGGGTGCCTATGGGAATCCAGCTCTGGCCAATTCTGCAGAAGTCCCAGCGGGACTAGCGCAGAGGCCCTGTCCGTGTCCCTCACTGCTCACTGCAGTGCTTGGCCCCCAGCAGGTCCTCAACGGCTGCAGGATAAATATAATAAGTGCCATGCCCTTTCCTGTTTTCCCTCAGAGGCACCCTCCCCCGAGCTGGGGGAGCAGGCTTCTGGCTGCGTGTGTCCTTGGCACCCAGCCTCTCCGAGGACAGCAAGTTCACTGCAGGAGGGCGGGGATGGGACCCACAGAGCCTGGAGTGGAGAGTCCCGGACAGAGTGGTGGGAAAGGAAGCGTTTTCTTGCTTGGGGCGAAAGGGGGCAGCGGAGCGGAGCGCCCGAAACCCAGCCCCTGCGGACCGCAATCTTTGGGAAAAAGGCGCAAGGTGGGAACGCAGGGCCGCACGTGGGAACCGTTCGCGGCTGCCGGGTTTGCAGCCCCTGCCCGCGCAGCTGGGAGCCGCAGGAGGCGGCCCGGGACTCCAGCCTGCAGCCCCTATCCCGCCTCCTCCCACGCTCCAGCCACGGCGCGGCGCTACCTGCTGCAGCCTCTCTTCTCCGGAGAGGCCCGGGCTCCTCCCTACACCCCCGCGGCCCAGCCCCGGGTCCCAGGCTCCGGCTCCGGGTCAGCATCCTCGCGCTCAAGGCGGTCATGCCGGACTCCTGCGGACTACACATCCCGGCGGCCCATGCGGCCCCGTCACGTGATGCAAGGATCGCCGGCCTTTCCGCCAGAGGGCGGCACAGAACTACAACTCCCAGCAAGCTCCCAAGGCGGCCCTCCGCGCAATGCCGCTACCGGAAGTGCGGGTCGCGCTTCCGGCGGCGTCCCGGGGCCAGGGGGGTGCGCCTTTCTCCGCGTCGGGGCGGCCCGGAGCGCGGTGGCGCGGCGCGGGGTAAGTGGCGGTCCCCACGGGGCAAGTGGCGGTCCCCACGGGGCAGCGGCCTAGAGAGGCGGACCCCGCAGTGTCCGGGTCCCGGGCCCTCACCCGCGCCCACTGCAACCCGACTCCGGAGCTCCGAGCATCCCTTAGTTTTAAGTCATGGCGGGTGCGAACGGGTCTCTGCTGCAGGCGGCTCCGTGACAGCTCCTGCTTCACATGGGTAGAGGAGAGACGGCAAACGTCGGGGCTCCCAGGACTTCGCGGCGGCAGTCCTAAC 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Task1_train_22075 | Here is a variant affecting TSC2 (TSC complex subunit 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Tuberous sclerosis 2 | AAATCAAGAAAGGGTTTGTTCCACAGAGAACAATCCTAGGCACGCTGGTCTTGGTGCCATTTTGGGAGGGTGACTGGTCGGTGGTATTGGGCGACCTCACGGACATAGAAATATTTATTTTGGGCAAACATTGCCAGACTTTCCTGATGACTTGTGGACAGGACAGGAAGTGGTCATTTTGGGAGTGCAGGTTGCTGGTAGAGCACCTGAGGGCTCTGCCCTTGCCTTGCCCAGCATTTGTGTGTGGGAGAGCAGTGAGACCTGGACCTCTCATGCTCAGATCTGCTAAGAGGAGAGTGATTGCTACCTCTGCAGCAGCTCATCTGAAACGTGCTGGCCGTACGCTACCAAAGATAGGTGTAAAGAACAGGTGTCCTTAGCCGGGCGCAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGATCACCTGAGGTGAGGAGTTCGAGACCCGCCTGGCCAATGTGGCAAAACCCTGTTTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGTCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGGAGGAGAATCGCTTAAACTCAGGAGGCAGAGGTTGTGGTGAGCTGAGATTGTGCCATTGCACTGCAGCCTGGGCAACAGAGCAAGACTGTCTCAGAAAACAAAAAAAAGAACAAGCGTCCTGCATCCTGTTCTGAAAGTTGTTTGTGTGGGTACGGGGCAGCCTGTGAGTGGATAAATAGGCCTCCGAGGCTGGGATGGTCCCGGGCCCTGTGTCCACGGATCTTTGCAGCTCAGGTTGCAACGGTAAGAGTATTGTCAATGAGACAAAGGAGGTGAGAGTGCCAGTTGTCTGAATTGGTTGGGATGTTGGTCAGATGACATCTAAAAGAACACGGCCATTTTGTTATTATTTGGTTAGAGACAAGGTCTCACTCTGTCACCCAGGCCGGGGTGCAGTGTCACAATCATGGCTCACTACAGCCTCAACCTGCCAGGCTCACGTGATCCTCCTACTTTAGCCTCTCAAGTAGCTGGGACTACAGGCATGCAGCACCACGCCTGGCTAAGTTTTGTATTTTTTGTCGTGACAGGGTCTCACTGTGTTGCCCAGGCTAGTCTGAAACTCCTGGGCTGACGTGACCCTCTCCCCTCTGCCACCCGAAGTGCTGAGATTACAGGTGTGAGCCACCGCACTTGGCCAGAACACGGCCATTTTAGTTCCCCTCCTTAGAGGAGTAAGGCCAGGAATGAGCCTGTGGTCTGAAAGCCGTGGCTGTTGGTTAATGTGGAGAAGGGAAGGTGGTGAGAGCCAGCCCAAACCCCTGCCGAGTGAGACTGATTCTGGCAGCTTTAGGGAGCAGGGATGAGCCCCTCACAGGCTGGGTGGTAGTTAGAGGAGGCAGATTTCAGAAGGCCACGCAGCGCTCTTTCTCAGCAGGTCAGGCAGGCAGCAGAGGTCGGGCAGGGGCATGGGGTCGAGGGCCCGATGCTGGTGTGTTCACTAGAGGAGAGCCACAAGCAGGGATTCTGGGTCAGGTGCAGGCCTAGGGCTTAGTGTGCACTTGTGGTTCTGAGACTGTCCCATGACTTCCTGCCAGCATTCCGGCAGCTCTAGTGGGACTCCCTCCTGGTCCAGGTGAGGCCACCATTGCTGCCCTGGCTTGCTGCTGTCCTCTCAGCCCCCAGTCTGTCACCTGGTGGGAGTTAAAGGGACCTGCTGGGGTTTGAGGAAGCTCTGAGCCGTTCCCTGTACGAAGCCTGTGGTCATCTCAGGCTGCAGGAGACACAGGAGATACGAGCTTTGGAGGTGGGGCTCTCAGTCACAAGCCCCCGTTGTTCCTCCCTGTCCTCCGCTCACGGCACTGCTCCAGTTGCCGGGGCCAGGGTTCTTGGAGAGCACATCCTCACCGCTGTCCCCTCTGCTGGTGACAGCACGCAGTGGAAGCACTCTGGAAGGCGGTCGCGGATCTGTTGCAGCCGGAGCGGCCGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGTAAGGCCCAGGGCGACGCTGGGATGGGTGACGTCAGGCTGCCCACTGACTGTCCTGTCCCTGCTGGGCCGTGTTTGGACTCCTGCCTCGGTGAGTTGCTGGGCACAGGGTCTAGGGGCTGATGGGCTCTGGAGCTGGATGGCCTGTGGGGTCTCCTGGTGTCATGAGGTCTGTGTGACCGTAGGCACTGCCTCCTCGCCTGTAAACAGATGGTCACTGCACCTTCCTCTTATGGGATGTTCTGGGGATCATATGAGGCAGTTCTCGCAGAGTGCTGAGATCGTACCTGGCAGCTGGTGTGGGGCTACGGTGTTGTTTTGCCCTTGCACCCTTTCGGGGCCACTCCCCTGCTCACTGCATTCCATCTGTGCTGGTCTTGGCTGACCCTGAACACCCAGGCCTCTTGGTGTTCCTGCCTCCCCTGGTCGGCCACTTCTACTCCTTCATGTCCCAGCTGCTCAGAAGGGCCGTCCACTCTCACAGGCTCTCCTGGGTTTCCCCCACTCAGGCCTTGTCCTCAGTCTCTGAGCACAAGGCTGTCTGCCCTGCACCGAGTGCAGGGGTCGGGCAGGAGCTGTGTCATCCCCTGCTCTGCGCCACCCGCTGTGCCAGGTCCCGACACACAGCAGTTGCTCCCCATACGCCGCTCTGCGGTCGGCCGGTGCATCCGGCCCCCTGCCCTGTACAATGCTGATGCTGCAGACCTGTCTCTTGCAGGGCGCCTCTGTGGGAAGGAGAGGGGTCCAGGGCTGGAGTCCGGGTGCCCCTGCACTTCAGGGACTTCTTGGCAGCCGTGTGGGCGACGCTGGCAGGCTCTGCTGATCCTGTGGCTTTTGTCTTTAGGGCGAGCGTTTGGGGGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTGGAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTGGGTGGGTGCCACCTTGGGTTGGAGGTTTCTCTGGCCTTGACGATCAAGTGTAACCTGGATGGGAAGGACCTGGGGCTGGGGAGGGGCTGCCGTTCTCAGGGATGGCCTGCAGCGGGTATGCCCACCCTGCTTCATGCACCTGGGCTCACCTGCGTGGCCGGAGTGCCCCTGAGGCACGTGTTAAAAATGCAGAGTCCTGGCCTTCACCCCAGACCTGCTGACTGTGAGTCTCTGGGGCTTGGGGCCTCCGAACACCTCTGCAACGGCAGGAGCTGGGCGAGTTCTGTCACTGGGAGGTGGTGCTGCTGACTTGGTCTCAACCGGAGCGTACTGGTCCCGTCTTCCTCCTCCTTTCTCCACTTTGTGGACCTTCCTCCTGCCATCCTGTGGTGGGAGGTTTCCATTAGTCTTGGGTCTCTGTGTCATGATTCTGGGAAGTAGAGAAAGAGGAGGAAGAGATCGGTCTGACTCTGGCTTTGCTGTTCTGTCGCCCAGAAAAGGGCCTCAGTGGCTGGGCTGCCTGCAGGACAGGTGCCGGCCAGGTGCCTACCGTCAGGTTTCCTGTCTGAGGTGACGTGGCCGGCAGCCAAGTGTGCACACGTCTCCTCCGAGCCACTCTCTGCTGGGGGTGGGGAACGCCCAGGAGTCTGGTGATGTCGGCGTCTCCCAGCCTCGGGTTGGGCCCTGAGTGTACGGCATACACACTTCTGCTGCCGCCTCGGCACAGACCCTCTGTGCAGCCCCAGGGGCGGTAGATCCTAGTGTCCGTGCGTAGCCGGCCTGCCCTGGGCTCCCCTGAGCCTCTTCGGGCCCAGTGCGTGGTCTGTCTGTTGCTGCCGGGGGACTGATGATGGGGTTTCTGGCAGTGACGGGTTTGGACACACTGTCCTGCGGCGGGAGGGGGAGGTGAGTGGGAGATGTAGATTCGGCGTCCTCGCAAACTGCCGCCGCTTCTCCCCCAGCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAATAGCTGTTACCTCGACGAGT 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AAATCAAGAAAGGGTTTGTTCCACAGAGAACAATCCTAGGCACGCTGGTCTTGGTGCCATTTTGGGAGGGTGACTGGTCGGTGGTATTGGGCGACCTCACGGACATAGAAATATTTATTTTGGGCAAACATTGCCAGACTTTCCTGATGACTTGTGGACAGGACAGGAAGTGGTCATTTTGGGAGTGCAGGTTGCTGGTAGAGCACCTGAGGGCTCTGCCCTTGCCTTGCCCAGCATTTGTGTGTGGGAGAGCAGTGAGACCTGGACCTCTCATGCTCAGATCTGCTAAGAGGAGAGTGATTGCTACCTCTGCAGCAGCTCATCTGAAACGTGCTGGCCGTACGCTACCAAAGATAGGTGTAAAGAACAGGTGTCCTTAGCCGGGCGCAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGATCACCTGAGGTGAGGAGTTCGAGACCCGCCTGGCCAATGTGGCAAAACCCTGTTTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGTCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGGAGGAGAATCGCTTAAACTCAGGAGGCAGAGGTTGTGGTGAGCTGAGATTGTGCCATTGCACTGCAGCCTGGGCAACAGAGCAAGACTGTCTCAGAAAACAAAAAAAAGAACAAGCGTCCTGCATCCTGTTCTGAAAGTTGTTTGTGTGGGTACGGGGCAGCCTGTGAGTGGATAAATAGGCCTCCGAGGCTGGGATGGTCCCGGGCCCTGTGTCCACGGATCTTTGCAGCTCAGGTTGCAACGGTAAGAGTATTGTCAATGAGACAAAGGAGGTGAGAGTGCCAGTTGTCTGAATTGGTTGGGATGTTGGTCAGATGACATCTAAAAGAACACGGCCATTTTGTTATTATTTGGTTAGAGACAAGGTCTCACTCTGTCACCCAGGCCGGGGTGCAGTGTCACAATCATGGCTCACTACAGCCTCAACCTGCCAGGCTCACGTGATCCTCCTACTTTAGCCTCTCAAGTAGCTGGGACTACAGGCATGCAGCACCACGCCTGGCTAAGTTTTGTATTTTTTGTCGTGACAGGGTCTCACTGTGTTGCCCAGGCTAGTCTGAAACTCCTGGGCTGACGTGACCCTCTCCCCTCTGCCACCCGAAGTGCTGAGATTACAGGTGTGAGCCACCGCACTTGGCCAGAACACGGCCATTTTAGTTCCCCTCCTTAGAGGAGTAAGGCCAGGAATGAGCCTGTGGTCTGAAAGCCGTGGCTGTTGGTTAATGTGGAGAAGGGAAGGTGGTGAGAGCCAGCCCAAACCCCTGCCGAGTGAGACTGATTCTGGCAGCTTTAGGGAGCAGGGATGAGCCCCTCACAGGCTGGGTGGTAGTTAGAGGAGGCAGATTTCAGAAGGCCACGCAGCGCTCTTTCTCAGCAGGTCAGGCAGGCAGCAGAGGTCGGGCAGGGGCATGGGGTCGAGGGCCCGATGCTGGTGTGTTCACTAGAGGAGAGCCACAAGCAGGGATTCTGGGTCAGGTGCAGGCCTAGGGCTTAGTGTGCACTTGTGGTTCTGAGACTGTCCCATGACTTCCTGCCAGCATTCCGGCAGCTCTAGTGGGACTCCCTCCTGGTCCAGGTGAGGCCACCATTGCTGCCCTGGCTTGCTGCTGTCCTCTCAGCCCCCAGTCTGTCACCTGGTGGGAGTTAAAGGGACCTGCTGGGGTTTGAGGAAGCTCTGAGCCGTTCCCTGTACGAAGCCTGTGGTCATCTCAGGCTGCAGGAGACACAGGAGATACGAGCTTTGGAGGTGGGGCTCTCAGTCACAAGCCCCCGTTGTTCCTCCCTGTCCTCCGCTCACGGCACTGCTCCAGTTGCCGGGGCCAGGGTTCTTGGAGAGCACATCCTCACCGCTGTCCCCTCTGCTGGTGACAGCACGCAGTGGAAGCACTCTGGAAGGCGGTCGCGGATCTGTTGCAGCCGGAGCGGCCGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGATAAGGCCCAGGGCGACGCTGGGATGGGTGACGTCAGGCTGCCCACTGACTGTCCTGTCCCTGCTGGGCCGTGTTTGGACTCCTGCCTCGGTGAGTTGCTGGGCACAGGGTCTAGGGGCTGATGGGCTCTGGAGCTGGATGGCCTGTGGGGTCTCCTGGTGTCATGAGGTCTGTGTGACCGTAGGCACTGCCTCCTCGCCTGTAAACAGATGGTCACTGCACCTTCCTCTTATGGGATGTTCTGGGGATCATATGAGGCAGTTCTCGCAGAGTGCTGAGATCGTACCTGGCAGCTGGTGTGGGGCTACGGTGTTGTTTTGCCCTTGCACCCTTTCGGGGCCACTCCCCTGCTCACTGCATTCCATCTGTGCTGGTCTTGGCTGACCCTGAACACCCAGGCCTCTTGGTGTTCCTGCCTCCCCTGGTCGGCCACTTCTACTCCTTCATGTCCCAGCTGCTCAGAAGGGCCGTCCACTCTCACAGGCTCTCCTGGGTTTCCCCCACTCAGGCCTTGTCCTCAGTCTCTGAGCACAAGGCTGTCTGCCCTGCACCGAGTGCAGGGGTCGGGCAGGAGCTGTGTCATCCCCTGCTCTGCGCCACCCGCTGTGCCAGGTCCCGACACACAGCAGTTGCTCCCCATACGCCGCTCTGCGGTCGGCCGGTGCATCCGGCCCCCTGCCCTGTACAATGCTGATGCTGCAGACCTGTCTCTTGCAGGGCGCCTCTGTGGGAAGGAGAGGGGTCCAGGGCTGGAGTCCGGGTGCCCCTGCACTTCAGGGACTTCTTGGCAGCCGTGTGGGCGACGCTGGCAGGCTCTGCTGATCCTGTGGCTTTTGTCTTTAGGGCGAGCGTTTGGGGGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTGGAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTGGGTGGGTGCCACCTTGGGTTGGAGGTTTCTCTGGCCTTGACGATCAAGTGTAACCTGGATGGGAAGGACCTGGGGCTGGGGAGGGGCTGCCGTTCTCAGGGATGGCCTGCAGCGGGTATGCCCACCCTGCTTCATGCACCTGGGCTCACCTGCGTGGCCGGAGTGCCCCTGAGGCACGTGTTAAAAATGCAGAGTCCTGGCCTTCACCCCAGACCTGCTGACTGTGAGTCTCTGGGGCTTGGGGCCTCCGAACACCTCTGCAACGGCAGGAGCTGGGCGAGTTCTGTCACTGGGAGGTGGTGCTGCTGACTTGGTCTCAACCGGAGCGTACTGGTCCCGTCTTCCTCCTCCTTTCTCCACTTTGTGGACCTTCCTCCTGCCATCCTGTGGTGGGAGGTTTCCATTAGTCTTGGGTCTCTGTGTCATGATTCTGGGAAGTAGAGAAAGAGGAGGAAGAGATCGGTCTGACTCTGGCTTTGCTGTTCTGTCGCCCAGAAAAGGGCCTCAGTGGCTGGGCTGCCTGCAGGACAGGTGCCGGCCAGGTGCCTACCGTCAGGTTTCCTGTCTGAGGTGACGTGGCCGGCAGCCAAGTGTGCACACGTCTCCTCCGAGCCACTCTCTGCTGGGGGTGGGGAACGCCCAGGAGTCTGGTGATGTCGGCGTCTCCCAGCCTCGGGTTGGGCCCTGAGTGTACGGCATACACACTTCTGCTGCCGCCTCGGCACAGACCCTCTGTGCAGCCCCAGGGGCGGTAGATCCTAGTGTCCGTGCGTAGCCGGCCTGCCCTGGGCTCCCCTGAGCCTCTTCGGGCCCAGTGCGTGGTCTGTCTGTTGCTGCCGGGGGACTGATGATGGGGTTTCTGGCAGTGACGGGTTTGGACACACTGTCCTGCGGCGGGAGGGGGAGGTGAGTGGGAGATGTAGATTCGGCGTCCTCGCAAACTGCCGCCGCTTCTCCCCCAGCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAATAGCTGTTACCTCGACGAGT 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Task1_train_22076 | A mutation in TSC2 (TSC complex subunit 2), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Tuberous sclerosis 2 | AAATCAAGAAAGGGTTTGTTCCACAGAGAACAATCCTAGGCACGCTGGTCTTGGTGCCATTTTGGGAGGGTGACTGGTCGGTGGTATTGGGCGACCTCACGGACATAGAAATATTTATTTTGGGCAAACATTGCCAGACTTTCCTGATGACTTGTGGACAGGACAGGAAGTGGTCATTTTGGGAGTGCAGGTTGCTGGTAGAGCACCTGAGGGCTCTGCCCTTGCCTTGCCCAGCATTTGTGTGTGGGAGAGCAGTGAGACCTGGACCTCTCATGCTCAGATCTGCTAAGAGGAGAGTGATTGCTACCTCTGCAGCAGCTCATCTGAAACGTGCTGGCCGTACGCTACCAAAGATAGGTGTAAAGAACAGGTGTCCTTAGCCGGGCGCAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGATCACCTGAGGTGAGGAGTTCGAGACCCGCCTGGCCAATGTGGCAAAACCCTGTTTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGTCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGGAGGAGAATCGCTTAAACTCAGGAGGCAGAGGTTGTGGTGAGCTGAGATTGTGCCATTGCACTGCAGCCTGGGCAACAGAGCAAGACTGTCTCAGAAAACAAAAAAAAGAACAAGCGTCCTGCATCCTGTTCTGAAAGTTGTTTGTGTGGGTACGGGGCAGCCTGTGAGTGGATAAATAGGCCTCCGAGGCTGGGATGGTCCCGGGCCCTGTGTCCACGGATCTTTGCAGCTCAGGTTGCAACGGTAAGAGTATTGTCAATGAGACAAAGGAGGTGAGAGTGCCAGTTGTCTGAATTGGTTGGGATGTTGGTCAGATGACATCTAAAAGAACACGGCCATTTTGTTATTATTTGGTTAGAGACAAGGTCTCACTCTGTCACCCAGGCCGGGGTGCAGTGTCACAATCATGGCTCACTACAGCCTCAACCTGCCAGGCTCACGTGATCCTCCTACTTTAGCCTCTCAAGTAGCTGGGACTACAGGCATGCAGCACCACGCCTGGCTAAGTTTTGTATTTTTTGTCGTGACAGGGTCTCACTGTGTTGCCCAGGCTAGTCTGAAACTCCTGGGCTGACGTGACCCTCTCCCCTCTGCCACCCGAAGTGCTGAGATTACAGGTGTGAGCCACCGCACTTGGCCAGAACACGGCCATTTTAGTTCCCCTCCTTAGAGGAGTAAGGCCAGGAATGAGCCTGTGGTCTGAAAGCCGTGGCTGTTGGTTAATGTGGAGAAGGGAAGGTGGTGAGAGCCAGCCCAAACCCCTGCCGAGTGAGACTGATTCTGGCAGCTTTAGGGAGCAGGGATGAGCCCCTCACAGGCTGGGTGGTAGTTAGAGGAGGCAGATTTCAGAAGGCCACGCAGCGCTCTTTCTCAGCAGGTCAGGCAGGCAGCAGAGGTCGGGCAGGGGCATGGGGTCGAGGGCCCGATGCTGGTGTGTTCACTAGAGGAGAGCCACAAGCAGGGATTCTGGGTCAGGTGCAGGCCTAGGGCTTAGTGTGCACTTGTGGTTCTGAGACTGTCCCATGACTTCCTGCCAGCATTCCGGCAGCTCTAGTGGGACTCCCTCCTGGTCCAGGTGAGGCCACCATTGCTGCCCTGGCTTGCTGCTGTCCTCTCAGCCCCCAGTCTGTCACCTGGTGGGAGTTAAAGGGACCTGCTGGGGTTTGAGGAAGCTCTGAGCCGTTCCCTGTACGAAGCCTGTGGTCATCTCAGGCTGCAGGAGACACAGGAGATACGAGCTTTGGAGGTGGGGCTCTCAGTCACAAGCCCCCGTTGTTCCTCCCTGTCCTCCGCTCACGGCACTGCTCCAGTTGCCGGGGCCAGGGTTCTTGGAGAGCACATCCTCACCGCTGTCCCCTCTGCTGGTGACAGCACGCAGTGGAAGCACTCTGGAAGGCGGTCGCGGATCTGTTGCAGCCGGAGCGGCCGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGTAAGGCCCAGGGCGACGCTGGGATGGGTGACGTCAGGCTGCCCACTGACTGTCCTGTCCCTGCTGGGCCGTGTTTGGACTCCTGCCTCGGTGAGTTGCTGGGCACAGGGTCTAGGGGCTGATGGGCTCTGGAGCTGGATGGCCTGTGGGGTCTCCTGGTGTCATGAGGTCTGTGTGACCGTAGGCACTGCCTCCTCGCCTGTAAACAGATGGTCACTGCACCTTCCTCTTATGGGATGTTCTGGGGATCATATGAGGCAGTTCTCGCAGAGTGCTGAGATCGTACCTGGCAGCTGGTGTGGGGCTACGGTGTTGTTTTGCCCTTGCACCCTTTCGGGGCCACTCCCCTGCTCACTGCATTCCATCTGTGCTGGTCTTGGCTGACCCTGAACACCCAGGCCTCTTGGTGTTCCTGCCTCCCCTGGTCGGCCACTTCTACTCCTTCATGTCCCAGCTGCTCAGAAGGGCCGTCCACTCTCACAGGCTCTCCTGGGTTTCCCCCACTCAGGCCTTGTCCTCAGTCTCTGAGCACAAGGCTGTCTGCCCTGCACCGAGTGCAGGGGTCGGGCAGGAGCTGTGTCATCCCCTGCTCTGCGCCACCCGCTGTGCCAGGTCCCGACACACAGCAGTTGCTCCCCATACGCCGCTCTGCGGTCGGCCGGTGCATCCGGCCCCCTGCCCTGTACAATGCTGATGCTGCAGACCTGTCTCTTGCAGGGCGCCTCTGTGGGAAGGAGAGGGGTCCAGGGCTGGAGTCCGGGTGCCCCTGCACTTCAGGGACTTCTTGGCAGCCGTGTGGGCGACGCTGGCAGGCTCTGCTGATCCTGTGGCTTTTGTCTTTAGGGCGAGCGTTTGGGGGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTGGAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTGGGTGGGTGCCACCTTGGGTTGGAGGTTTCTCTGGCCTTGACGATCAAGTGTAACCTGGATGGGAAGGACCTGGGGCTGGGGAGGGGCTGCCGTTCTCAGGGATGGCCTGCAGCGGGTATGCCCACCCTGCTTCATGCACCTGGGCTCACCTGCGTGGCCGGAGTGCCCCTGAGGCACGTGTTAAAAATGCAGAGTCCTGGCCTTCACCCCAGACCTGCTGACTGTGAGTCTCTGGGGCTTGGGGCCTCCGAACACCTCTGCAACGGCAGGAGCTGGGCGAGTTCTGTCACTGGGAGGTGGTGCTGCTGACTTGGTCTCAACCGGAGCGTACTGGTCCCGTCTTCCTCCTCCTTTCTCCACTTTGTGGACCTTCCTCCTGCCATCCTGTGGTGGGAGGTTTCCATTAGTCTTGGGTCTCTGTGTCATGATTCTGGGAAGTAGAGAAAGAGGAGGAAGAGATCGGTCTGACTCTGGCTTTGCTGTTCTGTCGCCCAGAAAAGGGCCTCAGTGGCTGGGCTGCCTGCAGGACAGGTGCCGGCCAGGTGCCTACCGTCAGGTTTCCTGTCTGAGGTGACGTGGCCGGCAGCCAAGTGTGCACACGTCTCCTCCGAGCCACTCTCTGCTGGGGGTGGGGAACGCCCAGGAGTCTGGTGATGTCGGCGTCTCCCAGCCTCGGGTTGGGCCCTGAGTGTACGGCATACACACTTCTGCTGCCGCCTCGGCACAGACCCTCTGTGCAGCCCCAGGGGCGGTAGATCCTAGTGTCCGTGCGTAGCCGGCCTGCCCTGGGCTCCCCTGAGCCTCTTCGGGCCCAGTGCGTGGTCTGTCTGTTGCTGCCGGGGGACTGATGATGGGGTTTCTGGCAGTGACGGGTTTGGACACACTGTCCTGCGGCGGGAGGGGGAGGTGAGTGGGAGATGTAGATTCGGCGTCCTCGCAAACTGCCGCCGCTTCTCCCCCAGCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAATAGCTGTTACCTCGACGAGT 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AAATCAAGAAAGGGTTTGTTCCACAGAGAACAATCCTAGGCACGCTGGTCTTGGTGCCATTTTGGGAGGGTGACTGGTCGGTGGTATTGGGCGACCTCACGGACATAGAAATATTTATTTTGGGCAAACATTGCCAGACTTTCCTGATGACTTGTGGACAGGACAGGAAGTGGTCATTTTGGGAGTGCAGGTTGCTGGTAGAGCACCTGAGGGCTCTGCCCTTGCCTTGCCCAGCATTTGTGTGTGGGAGAGCAGTGAGACCTGGACCTCTCATGCTCAGATCTGCTAAGAGGAGAGTGATTGCTACCTCTGCAGCAGCTCATCTGAAACGTGCTGGCCGTACGCTACCAAAGATAGGTGTAAAGAACAGGTGTCCTTAGCCGGGCGCAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGATCACCTGAGGTGAGGAGTTCGAGACCCGCCTGGCCAATGTGGCAAAACCCTGTTTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGTCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGGAGGAGAATCGCTTAAACTCAGGAGGCAGAGGTTGTGGTGAGCTGAGATTGTGCCATTGCACTGCAGCCTGGGCAACAGAGCAAGACTGTCTCAGAAAACAAAAAAAAGAACAAGCGTCCTGCATCCTGTTCTGAAAGTTGTTTGTGTGGGTACGGGGCAGCCTGTGAGTGGATAAATAGGCCTCCGAGGCTGGGATGGTCCCGGGCCCTGTGTCCACGGATCTTTGCAGCTCAGGTTGCAACGGTAAGAGTATTGTCAATGAGACAAAGGAGGTGAGAGTGCCAGTTGTCTGAATTGGTTGGGATGTTGGTCAGATGACATCTAAAAGAACACGGCCATTTTGTTATTATTTGGTTAGAGACAAGGTCTCACTCTGTCACCCAGGCCGGGGTGCAGTGTCACAATCATGGCTCACTACAGCCTCAACCTGCCAGGCTCACGTGATCCTCCTACTTTAGCCTCTCAAGTAGCTGGGACTACAGGCATGCAGCACCACGCCTGGCTAAGTTTTGTATTTTTTGTCGTGACAGGGTCTCACTGTGTTGCCCAGGCTAGTCTGAAACTCCTGGGCTGACGTGACCCTCTCCCCTCTGCCACCCGAAGTGCTGAGATTACAGGTGTGAGCCACCGCACTTGGCCAGAACACGGCCATTTTAGTTCCCCTCCTTAGAGGAGTAAGGCCAGGAATGAGCCTGTGGTCTGAAAGCCGTGGCTGTTGGTTAATGTGGAGAAGGGAAGGTGGTGAGAGCCAGCCCAAACCCCTGCCGAGTGAGACTGATTCTGGCAGCTTTAGGGAGCAGGGATGAGCCCCTCACAGGCTGGGTGGTAGTTAGAGGAGGCAGATTTCAGAAGGCCACGCAGCGCTCTTTCTCAGCAGGTCAGGCAGGCAGCAGAGGTCGGGCAGGGGCATGGGGTCGAGGGCCCGATGCTGGTGTGTTCACTAGAGGAGAGCCACAAGCAGGGATTCTGGGTCAGGTGCAGGCCTAGGGCTTAGTGTGCACTTGTGGTTCTGAGACTGTCCCATGACTTCCTGCCAGCATTCCGGCAGCTCTAGTGGGACTCCCTCCTGGTCCAGGTGAGGCCACCATTGCTGCCCTGGCTTGCTGCTGTCCTCTCAGCCCCCAGTCTGTCACCTGGTGGGAGTTAAAGGGACCTGCTGGGGTTTGAGGAAGCTCTGAGCCGTTCCCTGTACGAAGCCTGTGGTCATCTCAGGCTGCAGGAGACACAGGAGATACGAGCTTTGGAGGTGGGGCTCTCAGTCACAAGCCCCCGTTGTTCCTCCCTGTCCTCCGCTCACGGCACTGCTCCAGTTGCCGGGGCCAGGGTTCTTGGAGAGCACATCCTCACCGCTGTCCCCTCTGCTGGTGACAGCACGCAGTGGAAGCACTCTGGAAGGCGGTCGCGGATCTGTTGCAGCCGGAGCGGCCGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGCTAAGGCCCAGGGCGACGCTGGGATGGGTGACGTCAGGCTGCCCACTGACTGTCCTGTCCCTGCTGGGCCGTGTTTGGACTCCTGCCTCGGTGAGTTGCTGGGCACAGGGTCTAGGGGCTGATGGGCTCTGGAGCTGGATGGCCTGTGGGGTCTCCTGGTGTCATGAGGTCTGTGTGACCGTAGGCACTGCCTCCTCGCCTGTAAACAGATGGTCACTGCACCTTCCTCTTATGGGATGTTCTGGGGATCATATGAGGCAGTTCTCGCAGAGTGCTGAGATCGTACCTGGCAGCTGGTGTGGGGCTACGGTGTTGTTTTGCCCTTGCACCCTTTCGGGGCCACTCCCCTGCTCACTGCATTCCATCTGTGCTGGTCTTGGCTGACCCTGAACACCCAGGCCTCTTGGTGTTCCTGCCTCCCCTGGTCGGCCACTTCTACTCCTTCATGTCCCAGCTGCTCAGAAGGGCCGTCCACTCTCACAGGCTCTCCTGGGTTTCCCCCACTCAGGCCTTGTCCTCAGTCTCTGAGCACAAGGCTGTCTGCCCTGCACCGAGTGCAGGGGTCGGGCAGGAGCTGTGTCATCCCCTGCTCTGCGCCACCCGCTGTGCCAGGTCCCGACACACAGCAGTTGCTCCCCATACGCCGCTCTGCGGTCGGCCGGTGCATCCGGCCCCCTGCCCTGTACAATGCTGATGCTGCAGACCTGTCTCTTGCAGGGCGCCTCTGTGGGAAGGAGAGGGGTCCAGGGCTGGAGTCCGGGTGCCCCTGCACTTCAGGGACTTCTTGGCAGCCGTGTGGGCGACGCTGGCAGGCTCTGCTGATCCTGTGGCTTTTGTCTTTAGGGCGAGCGTTTGGGGGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTGGAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTGGGTGGGTGCCACCTTGGGTTGGAGGTTTCTCTGGCCTTGACGATCAAGTGTAACCTGGATGGGAAGGACCTGGGGCTGGGGAGGGGCTGCCGTTCTCAGGGATGGCCTGCAGCGGGTATGCCCACCCTGCTTCATGCACCTGGGCTCACCTGCGTGGCCGGAGTGCCCCTGAGGCACGTGTTAAAAATGCAGAGTCCTGGCCTTCACCCCAGACCTGCTGACTGTGAGTCTCTGGGGCTTGGGGCCTCCGAACACCTCTGCAACGGCAGGAGCTGGGCGAGTTCTGTCACTGGGAGGTGGTGCTGCTGACTTGGTCTCAACCGGAGCGTACTGGTCCCGTCTTCCTCCTCCTTTCTCCACTTTGTGGACCTTCCTCCTGCCATCCTGTGGTGGGAGGTTTCCATTAGTCTTGGGTCTCTGTGTCATGATTCTGGGAAGTAGAGAAAGAGGAGGAAGAGATCGGTCTGACTCTGGCTTTGCTGTTCTGTCGCCCAGAAAAGGGCCTCAGTGGCTGGGCTGCCTGCAGGACAGGTGCCGGCCAGGTGCCTACCGTCAGGTTTCCTGTCTGAGGTGACGTGGCCGGCAGCCAAGTGTGCACACGTCTCCTCCGAGCCACTCTCTGCTGGGGGTGGGGAACGCCCAGGAGTCTGGTGATGTCGGCGTCTCCCAGCCTCGGGTTGGGCCCTGAGTGTACGGCATACACACTTCTGCTGCCGCCTCGGCACAGACCCTCTGTGCAGCCCCAGGGGCGGTAGATCCTAGTGTCCGTGCGTAGCCGGCCTGCCCTGGGCTCCCCTGAGCCTCTTCGGGCCCAGTGCGTGGTCTGTCTGTTGCTGCCGGGGGACTGATGATGGGGTTTCTGGCAGTGACGGGTTTGGACACACTGTCCTGCGGCGGGAGGGGGAGGTGAGTGGGAGATGTAGATTCGGCGTCCTCGCAAACTGCCGCCGCTTCTCCCCCAGCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAATAGCTGTTACCTCGACGAGT 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Task1_train_22077 | This gene mutation involves TSC2 (TSC complex subunit 2) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | AATCAAGAAAGGGTTTGTTCCACAGAGAACAATCCTAGGCACGCTGGTCTTGGTGCCATTTTGGGAGGGTGACTGGTCGGTGGTATTGGGCGACCTCACGGACATAGAAATATTTATTTTGGGCAAACATTGCCAGACTTTCCTGATGACTTGTGGACAGGACAGGAAGTGGTCATTTTGGGAGTGCAGGTTGCTGGTAGAGCACCTGAGGGCTCTGCCCTTGCCTTGCCCAGCATTTGTGTGTGGGAGAGCAGTGAGACCTGGACCTCTCATGCTCAGATCTGCTAAGAGGAGAGTGATTGCTACCTCTGCAGCAGCTCATCTGAAACGTGCTGGCCGTACGCTACCAAAGATAGGTGTAAAGAACAGGTGTCCTTAGCCGGGCGCAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGATCACCTGAGGTGAGGAGTTCGAGACCCGCCTGGCCAATGTGGCAAAACCCTGTTTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGTCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGGAGGAGAATCGCTTAAACTCAGGAGGCAGAGGTTGTGGTGAGCTGAGATTGTGCCATTGCACTGCAGCCTGGGCAACAGAGCAAGACTGTCTCAGAAAACAAAAAAAAGAACAAGCGTCCTGCATCCTGTTCTGAAAGTTGTTTGTGTGGGTACGGGGCAGCCTGTGAGTGGATAAATAGGCCTCCGAGGCTGGGATGGTCCCGGGCCCTGTGTCCACGGATCTTTGCAGCTCAGGTTGCAACGGTAAGAGTATTGTCAATGAGACAAAGGAGGTGAGAGTGCCAGTTGTCTGAATTGGTTGGGATGTTGGTCAGATGACATCTAAAAGAACACGGCCATTTTGTTATTATTTGGTTAGAGACAAGGTCTCACTCTGTCACCCAGGCCGGGGTGCAGTGTCACAATCATGGCTCACTACAGCCTCAACCTGCCAGGCTCACGTGATCCTCCTACTTTAGCCTCTCAAGTAGCTGGGACTACAGGCATGCAGCACCACGCCTGGCTAAGTTTTGTATTTTTTGTCGTGACAGGGTCTCACTGTGTTGCCCAGGCTAGTCTGAAACTCCTGGGCTGACGTGACCCTCTCCCCTCTGCCACCCGAAGTGCTGAGATTACAGGTGTGAGCCACCGCACTTGGCCAGAACACGGCCATTTTAGTTCCCCTCCTTAGAGGAGTAAGGCCAGGAATGAGCCTGTGGTCTGAAAGCCGTGGCTGTTGGTTAATGTGGAGAAGGGAAGGTGGTGAGAGCCAGCCCAAACCCCTGCCGAGTGAGACTGATTCTGGCAGCTTTAGGGAGCAGGGATGAGCCCCTCACAGGCTGGGTGGTAGTTAGAGGAGGCAGATTTCAGAAGGCCACGCAGCGCTCTTTCTCAGCAGGTCAGGCAGGCAGCAGAGGTCGGGCAGGGGCATGGGGTCGAGGGCCCGATGCTGGTGTGTTCACTAGAGGAGAGCCACAAGCAGGGATTCTGGGTCAGGTGCAGGCCTAGGGCTTAGTGTGCACTTGTGGTTCTGAGACTGTCCCATGACTTCCTGCCAGCATTCCGGCAGCTCTAGTGGGACTCCCTCCTGGTCCAGGTGAGGCCACCATTGCTGCCCTGGCTTGCTGCTGTCCTCTCAGCCCCCAGTCTGTCACCTGGTGGGAGTTAAAGGGACCTGCTGGGGTTTGAGGAAGCTCTGAGCCGTTCCCTGTACGAAGCCTGTGGTCATCTCAGGCTGCAGGAGACACAGGAGATACGAGCTTTGGAGGTGGGGCTCTCAGTCACAAGCCCCCGTTGTTCCTCCCTGTCCTCCGCTCACGGCACTGCTCCAGTTGCCGGGGCCAGGGTTCTTGGAGAGCACATCCTCACCGCTGTCCCCTCTGCTGGTGACAGCACGCAGTGGAAGCACTCTGGAAGGCGGTCGCGGATCTGTTGCAGCCGGAGCGGCCGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGTAAGGCCCAGGGCGACGCTGGGATGGGTGACGTCAGGCTGCCCACTGACTGTCCTGTCCCTGCTGGGCCGTGTTTGGACTCCTGCCTCGGTGAGTTGCTGGGCACAGGGTCTAGGGGCTGATGGGCTCTGGAGCTGGATGGCCTGTGGGGTCTCCTGGTGTCATGAGGTCTGTGTGACCGTAGGCACTGCCTCCTCGCCTGTAAACAGATGGTCACTGCACCTTCCTCTTATGGGATGTTCTGGGGATCATATGAGGCAGTTCTCGCAGAGTGCTGAGATCGTACCTGGCAGCTGGTGTGGGGCTACGGTGTTGTTTTGCCCTTGCACCCTTTCGGGGCCACTCCCCTGCTCACTGCATTCCATCTGTGCTGGTCTTGGCTGACCCTGAACACCCAGGCCTCTTGGTGTTCCTGCCTCCCCTGGTCGGCCACTTCTACTCCTTCATGTCCCAGCTGCTCAGAAGGGCCGTCCACTCTCACAGGCTCTCCTGGGTTTCCCCCACTCAGGCCTTGTCCTCAGTCTCTGAGCACAAGGCTGTCTGCCCTGCACCGAGTGCAGGGGTCGGGCAGGAGCTGTGTCATCCCCTGCTCTGCGCCACCCGCTGTGCCAGGTCCCGACACACAGCAGTTGCTCCCCATACGCCGCTCTGCGGTCGGCCGGTGCATCCGGCCCCCTGCCCTGTACAATGCTGATGCTGCAGACCTGTCTCTTGCAGGGCGCCTCTGTGGGAAGGAGAGGGGTCCAGGGCTGGAGTCCGGGTGCCCCTGCACTTCAGGGACTTCTTGGCAGCCGTGTGGGCGACGCTGGCAGGCTCTGCTGATCCTGTGGCTTTTGTCTTTAGGGCGAGCGTTTGGGGGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTGGAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTGGGTGGGTGCCACCTTGGGTTGGAGGTTTCTCTGGCCTTGACGATCAAGTGTAACCTGGATGGGAAGGACCTGGGGCTGGGGAGGGGCTGCCGTTCTCAGGGATGGCCTGCAGCGGGTATGCCCACCCTGCTTCATGCACCTGGGCTCACCTGCGTGGCCGGAGTGCCCCTGAGGCACGTGTTAAAAATGCAGAGTCCTGGCCTTCACCCCAGACCTGCTGACTGTGAGTCTCTGGGGCTTGGGGCCTCCGAACACCTCTGCAACGGCAGGAGCTGGGCGAGTTCTGTCACTGGGAGGTGGTGCTGCTGACTTGGTCTCAACCGGAGCGTACTGGTCCCGTCTTCCTCCTCCTTTCTCCACTTTGTGGACCTTCCTCCTGCCATCCTGTGGTGGGAGGTTTCCATTAGTCTTGGGTCTCTGTGTCATGATTCTGGGAAGTAGAGAAAGAGGAGGAAGAGATCGGTCTGACTCTGGCTTTGCTGTTCTGTCGCCCAGAAAAGGGCCTCAGTGGCTGGGCTGCCTGCAGGACAGGTGCCGGCCAGGTGCCTACCGTCAGGTTTCCTGTCTGAGGTGACGTGGCCGGCAGCCAAGTGTGCACACGTCTCCTCCGAGCCACTCTCTGCTGGGGGTGGGGAACGCCCAGGAGTCTGGTGATGTCGGCGTCTCCCAGCCTCGGGTTGGGCCCTGAGTGTACGGCATACACACTTCTGCTGCCGCCTCGGCACAGACCCTCTGTGCAGCCCCAGGGGCGGTAGATCCTAGTGTCCGTGCGTAGCCGGCCTGCCCTGGGCTCCCCTGAGCCTCTTCGGGCCCAGTGCGTGGTCTGTCTGTTGCTGCCGGGGGACTGATGATGGGGTTTCTGGCAGTGACGGGTTTGGACACACTGTCCTGCGGCGGGAGGGGGAGGTGAGTGGGAGATGTAGATTCGGCGTCCTCGCAAACTGCCGCCGCTTCTCCCCCAGCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAATAGCTGTTACCTCGACGAGTA 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AATCAAGAAAGGGTTTGTTCCACAGAGAACAATCCTAGGCACGCTGGTCTTGGTGCCATTTTGGGAGGGTGACTGGTCGGTGGTATTGGGCGACCTCACGGACATAGAAATATTTATTTTGGGCAAACATTGCCAGACTTTCCTGATGACTTGTGGACAGGACAGGAAGTGGTCATTTTGGGAGTGCAGGTTGCTGGTAGAGCACCTGAGGGCTCTGCCCTTGCCTTGCCCAGCATTTGTGTGTGGGAGAGCAGTGAGACCTGGACCTCTCATGCTCAGATCTGCTAAGAGGAGAGTGATTGCTACCTCTGCAGCAGCTCATCTGAAACGTGCTGGCCGTACGCTACCAAAGATAGGTGTAAAGAACAGGTGTCCTTAGCCGGGCGCAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGATCACCTGAGGTGAGGAGTTCGAGACCCGCCTGGCCAATGTGGCAAAACCCTGTTTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGTCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGGAGGAGAATCGCTTAAACTCAGGAGGCAGAGGTTGTGGTGAGCTGAGATTGTGCCATTGCACTGCAGCCTGGGCAACAGAGCAAGACTGTCTCAGAAAACAAAAAAAAGAACAAGCGTCCTGCATCCTGTTCTGAAAGTTGTTTGTGTGGGTACGGGGCAGCCTGTGAGTGGATAAATAGGCCTCCGAGGCTGGGATGGTCCCGGGCCCTGTGTCCACGGATCTTTGCAGCTCAGGTTGCAACGGTAAGAGTATTGTCAATGAGACAAAGGAGGTGAGAGTGCCAGTTGTCTGAATTGGTTGGGATGTTGGTCAGATGACATCTAAAAGAACACGGCCATTTTGTTATTATTTGGTTAGAGACAAGGTCTCACTCTGTCACCCAGGCCGGGGTGCAGTGTCACAATCATGGCTCACTACAGCCTCAACCTGCCAGGCTCACGTGATCCTCCTACTTTAGCCTCTCAAGTAGCTGGGACTACAGGCATGCAGCACCACGCCTGGCTAAGTTTTGTATTTTTTGTCGTGACAGGGTCTCACTGTGTTGCCCAGGCTAGTCTGAAACTCCTGGGCTGACGTGACCCTCTCCCCTCTGCCACCCGAAGTGCTGAGATTACAGGTGTGAGCCACCGCACTTGGCCAGAACACGGCCATTTTAGTTCCCCTCCTTAGAGGAGTAAGGCCAGGAATGAGCCTGTGGTCTGAAAGCCGTGGCTGTTGGTTAATGTGGAGAAGGGAAGGTGGTGAGAGCCAGCCCAAACCCCTGCCGAGTGAGACTGATTCTGGCAGCTTTAGGGAGCAGGGATGAGCCCCTCACAGGCTGGGTGGTAGTTAGAGGAGGCAGATTTCAGAAGGCCACGCAGCGCTCTTTCTCAGCAGGTCAGGCAGGCAGCAGAGGTCGGGCAGGGGCATGGGGTCGAGGGCCCGATGCTGGTGTGTTCACTAGAGGAGAGCCACAAGCAGGGATTCTGGGTCAGGTGCAGGCCTAGGGCTTAGTGTGCACTTGTGGTTCTGAGACTGTCCCATGACTTCCTGCCAGCATTCCGGCAGCTCTAGTGGGACTCCCTCCTGGTCCAGGTGAGGCCACCATTGCTGCCCTGGCTTGCTGCTGTCCTCTCAGCCCCCAGTCTGTCACCTGGTGGGAGTTAAAGGGACCTGCTGGGGTTTGAGGAAGCTCTGAGCCGTTCCCTGTACGAAGCCTGTGGTCATCTCAGGCTGCAGGAGACACAGGAGATACGAGCTTTGGAGGTGGGGCTCTCAGTCACAAGCCCCCGTTGTTCCTCCCTGTCCTCCGCTCACGGCACTGCTCCAGTTGCCGGGGCCAGGGTTCTTGGAGAGCACATCCTCACCGCTGTCCCCTCTGCTGGTGACAGCACGCAGTGGAAGCACTCTGGAAGGCGGTCGCGGATCTGTTGCAGCCGGAGCGGCCGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGGAAGGCCCAGGGCGACGCTGGGATGGGTGACGTCAGGCTGCCCACTGACTGTCCTGTCCCTGCTGGGCCGTGTTTGGACTCCTGCCTCGGTGAGTTGCTGGGCACAGGGTCTAGGGGCTGATGGGCTCTGGAGCTGGATGGCCTGTGGGGTCTCCTGGTGTCATGAGGTCTGTGTGACCGTAGGCACTGCCTCCTCGCCTGTAAACAGATGGTCACTGCACCTTCCTCTTATGGGATGTTCTGGGGATCATATGAGGCAGTTCTCGCAGAGTGCTGAGATCGTACCTGGCAGCTGGTGTGGGGCTACGGTGTTGTTTTGCCCTTGCACCCTTTCGGGGCCACTCCCCTGCTCACTGCATTCCATCTGTGCTGGTCTTGGCTGACCCTGAACACCCAGGCCTCTTGGTGTTCCTGCCTCCCCTGGTCGGCCACTTCTACTCCTTCATGTCCCAGCTGCTCAGAAGGGCCGTCCACTCTCACAGGCTCTCCTGGGTTTCCCCCACTCAGGCCTTGTCCTCAGTCTCTGAGCACAAGGCTGTCTGCCCTGCACCGAGTGCAGGGGTCGGGCAGGAGCTGTGTCATCCCCTGCTCTGCGCCACCCGCTGTGCCAGGTCCCGACACACAGCAGTTGCTCCCCATACGCCGCTCTGCGGTCGGCCGGTGCATCCGGCCCCCTGCCCTGTACAATGCTGATGCTGCAGACCTGTCTCTTGCAGGGCGCCTCTGTGGGAAGGAGAGGGGTCCAGGGCTGGAGTCCGGGTGCCCCTGCACTTCAGGGACTTCTTGGCAGCCGTGTGGGCGACGCTGGCAGGCTCTGCTGATCCTGTGGCTTTTGTCTTTAGGGCGAGCGTTTGGGGGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTGGAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTGGGTGGGTGCCACCTTGGGTTGGAGGTTTCTCTGGCCTTGACGATCAAGTGTAACCTGGATGGGAAGGACCTGGGGCTGGGGAGGGGCTGCCGTTCTCAGGGATGGCCTGCAGCGGGTATGCCCACCCTGCTTCATGCACCTGGGCTCACCTGCGTGGCCGGAGTGCCCCTGAGGCACGTGTTAAAAATGCAGAGTCCTGGCCTTCACCCCAGACCTGCTGACTGTGAGTCTCTGGGGCTTGGGGCCTCCGAACACCTCTGCAACGGCAGGAGCTGGGCGAGTTCTGTCACTGGGAGGTGGTGCTGCTGACTTGGTCTCAACCGGAGCGTACTGGTCCCGTCTTCCTCCTCCTTTCTCCACTTTGTGGACCTTCCTCCTGCCATCCTGTGGTGGGAGGTTTCCATTAGTCTTGGGTCTCTGTGTCATGATTCTGGGAAGTAGAGAAAGAGGAGGAAGAGATCGGTCTGACTCTGGCTTTGCTGTTCTGTCGCCCAGAAAAGGGCCTCAGTGGCTGGGCTGCCTGCAGGACAGGTGCCGGCCAGGTGCCTACCGTCAGGTTTCCTGTCTGAGGTGACGTGGCCGGCAGCCAAGTGTGCACACGTCTCCTCCGAGCCACTCTCTGCTGGGGGTGGGGAACGCCCAGGAGTCTGGTGATGTCGGCGTCTCCCAGCCTCGGGTTGGGCCCTGAGTGTACGGCATACACACTTCTGCTGCCGCCTCGGCACAGACCCTCTGTGCAGCCCCAGGGGCGGTAGATCCTAGTGTCCGTGCGTAGCCGGCCTGCCCTGGGCTCCCCTGAGCCTCTTCGGGCCCAGTGCGTGGTCTGTCTGTTGCTGCCGGGGGACTGATGATGGGGTTTCTGGCAGTGACGGGTTTGGACACACTGTCCTGCGGCGGGAGGGGGAGGTGAGTGGGAGATGTAGATTCGGCGTCCTCGCAAACTGCCGCCGCTTCTCCCCCAGCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAATAGCTGTTACCTCGACGAGTA 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Task1_train_22078 | The variant affects gene TSC2 (TSC complex subunit 2), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Tuberous sclerosis 2 | CACTACAGCCTCAACCTGCCAGGCTCACGTGATCCTCCTACTTTAGCCTCTCAAGTAGCTGGGACTACAGGCATGCAGCACCACGCCTGGCTAAGTTTTGTATTTTTTGTCGTGACAGGGTCTCACTGTGTTGCCCAGGCTAGTCTGAAACTCCTGGGCTGACGTGACCCTCTCCCCTCTGCCACCCGAAGTGCTGAGATTACAGGTGTGAGCCACCGCACTTGGCCAGAACACGGCCATTTTAGTTCCCCTCCTTAGAGGAGTAAGGCCAGGAATGAGCCTGTGGTCTGAAAGCCGTGGCTGTTGGTTAATGTGGAGAAGGGAAGGTGGTGAGAGCCAGCCCAAACCCCTGCCGAGTGAGACTGATTCTGGCAGCTTTAGGGAGCAGGGATGAGCCCCTCACAGGCTGGGTGGTAGTTAGAGGAGGCAGATTTCAGAAGGCCACGCAGCGCTCTTTCTCAGCAGGTCAGGCAGGCAGCAGAGGTCGGGCAGGGGCATGGGGTCGAGGGCCCGATGCTGGTGTGTTCACTAGAGGAGAGCCACAAGCAGGGATTCTGGGTCAGGTGCAGGCCTAGGGCTTAGTGTGCACTTGTGGTTCTGAGACTGTCCCATGACTTCCTGCCAGCATTCCGGCAGCTCTAGTGGGACTCCCTCCTGGTCCAGGTGAGGCCACCATTGCTGCCCTGGCTTGCTGCTGTCCTCTCAGCCCCCAGTCTGTCACCTGGTGGGAGTTAAAGGGACCTGCTGGGGTTTGAGGAAGCTCTGAGCCGTTCCCTGTACGAAGCCTGTGGTCATCTCAGGCTGCAGGAGACACAGGAGATACGAGCTTTGGAGGTGGGGCTCTCAGTCACAAGCCCCCGTTGTTCCTCCCTGTCCTCCGCTCACGGCACTGCTCCAGTTGCCGGGGCCAGGGTTCTTGGAGAGCACATCCTCACCGCTGTCCCCTCTGCTGGTGACAGCACGCAGTGGAAGCACTCTGGAAGGCGGTCGCGGATCTGTTGCAGCCGGAGCGGCCGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGTAAGGCCCAGGGCGACGCTGGGATGGGTGACGTCAGGCTGCCCACTGACTGTCCTGTCCCTGCTGGGCCGTGTTTGGACTCCTGCCTCGGTGAGTTGCTGGGCACAGGGTCTAGGGGCTGATGGGCTCTGGAGCTGGATGGCCTGTGGGGTCTCCTGGTGTCATGAGGTCTGTGTGACCGTAGGCACTGCCTCCTCGCCTGTAAACAGATGGTCACTGCACCTTCCTCTTATGGGATGTTCTGGGGATCATATGAGGCAGTTCTCGCAGAGTGCTGAGATCGTACCTGGCAGCTGGTGTGGGGCTACGGTGTTGTTTTGCCCTTGCACCCTTTCGGGGCCACTCCCCTGCTCACTGCATTCCATCTGTGCTGGTCTTGGCTGACCCTGAACACCCAGGCCTCTTGGTGTTCCTGCCTCCCCTGGTCGGCCACTTCTACTCCTTCATGTCCCAGCTGCTCAGAAGGGCCGTCCACTCTCACAGGCTCTCCTGGGTTTCCCCCACTCAGGCCTTGTCCTCAGTCTCTGAGCACAAGGCTGTCTGCCCTGCACCGAGTGCAGGGGTCGGGCAGGAGCTGTGTCATCCCCTGCTCTGCGCCACCCGCTGTGCCAGGTCCCGACACACAGCAGTTGCTCCCCATACGCCGCTCTGCGGTCGGCCGGTGCATCCGGCCCCCTGCCCTGTACAATGCTGATGCTGCAGACCTGTCTCTTGCAGGGCGCCTCTGTGGGAAGGAGAGGGGTCCAGGGCTGGAGTCCGGGTGCCCCTGCACTTCAGGGACTTCTTGGCAGCCGTGTGGGCGACGCTGGCAGGCTCTGCTGATCCTGTGGCTTTTGTCTTTAGGGCGAGCGTTTGGGGGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTGGAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTGGGTGGGTGCCACCTTGGGTTGGAGGTTTCTCTGGCCTTGACGATCAAGTGTAACCTGGATGGGAAGGACCTGGGGCTGGGGAGGGGCTGCCGTTCTCAGGGATGGCCTGCAGCGGGTATGCCCACCCTGCTTCATGCACCTGGGCTCACCTGCGTGGCCGGAGTGCCCCTGAGGCACGTGTTAAAAATGCAGAGTCCTGGCCTTCACCCCAGACCTGCTGACTGTGAGTCTCTGGGGCTTGGGGCCTCCGAACACCTCTGCAACGGCAGGAGCTGGGCGAGTTCTGTCACTGGGAGGTGGTGCTGCTGACTTGGTCTCAACCGGAGCGTACTGGTCCCGTCTTCCTCCTCCTTTCTCCACTTTGTGGACCTTCCTCCTGCCATCCTGTGGTGGGAGGTTTCCATTAGTCTTGGGTCTCTGTGTCATGATTCTGGGAAGTAGAGAAAGAGGAGGAAGAGATCGGTCTGACTCTGGCTTTGCTGTTCTGTCGCCCAGAAAAGGGCCTCAGTGGCTGGGCTGCCTGCAGGACAGGTGCCGGCCAGGTGCCTACCGTCAGGTTTCCTGTCTGAGGTGACGTGGCCGGCAGCCAAGTGTGCACACGTCTCCTCCGAGCCACTCTCTGCTGGGGGTGGGGAACGCCCAGGAGTCTGGTGATGTCGGCGTCTCCCAGCCTCGGGTTGGGCCCTGAGTGTACGGCATACACACTTCTGCTGCCGCCTCGGCACAGACCCTCTGTGCAGCCCCAGGGGCGGTAGATCCTAGTGTCCGTGCGTAGCCGGCCTGCCCTGGGCTCCCCTGAGCCTCTTCGGGCCCAGTGCGTGGTCTGTCTGTTGCTGCCGGGGGACTGATGATGGGGTTTCTGGCAGTGACGGGTTTGGACACACTGTCCTGCGGCGGGAGGGGGAGGTGAGTGGGAGATGTAGATTCGGCGTCCTCGCAAACTGCCGCCGCTTCTCCCCCAGCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAATAGCTGTTACCTCGACGAGTACATCGCAAGGATGGTTCAGTAAGAAAAGAATTGAGATCCTGTTCTGATAATGGTCCTAAGTTCAGCTCCGCAGTGAATAAAGTTGAAACCACCAAAAAAATAGAGGTTGGGCTGGGCACAATGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGGAGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAACCGGAAGGCAGAGGTTGCAGTGAGCGGAGATCGTGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGAGAAGTACGTAGCTATCTTCTGTTTAGCTCTCATCTGATGTCTTGGTTATCTTTTTGTTGTTTGTTTAGAATGTTGCATGAGCTCTGTCTCACTCATGCTGAACACCCAGCACCGAGAGCAGTGGCTGGCGCACAGCAGGCACCTGAGTGCTTGTTGGGTGGGTGGGACCCCCAGGGAGGATGAGCCATGCGTGTTATTGACGTCATAGAGTGACTAGACCACAGCCCGTGGTGGCTCGGCCATCCAGGCAGTGCTGCCGGGACTGAGCTCGGTGCTCCCTGCAGGATGATCTGTCTGCTGTGCGTCCGGACCGCGTCCTCTGTGGACATAGAGGTCAGTGCCTCCCCTCCCCAGGGCCGGCCCATTTCACCCTGGTTTCTGGGAGGCTGGGGCTTGGGGGTTGAGCCCTGTGTGCCACCTGCTGGCTGTGTAGCCCTGGGCAAGCTGCTCGGTCTCTCTGAGCCTCAGGAGTCCCCCATGTAAGTCAGGATAGCCGGGCGCCTCCATGTGGAGATGTAGCTCAGGGTGGATGACAGCATCAATGACCCACAGTGACAGGGACGTCAG 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CACTACAGCCTCAACCTGCCAGGCTCACGTGATCCTCCTACTTTAGCCTCTCAAGTAGCTGGGACTACAGGCATGCAGCACCACGCCTGGCTAAGTTTTGTATTTTTTGTCGTGACAGGGTCTCACTGTGTTGCCCAGGCTAGTCTGAAACTCCTGGGCTGACGTGACCCTCTCCCCTCTGCCACCCGAAGTGCTGAGATTACAGGTGTGAGCCACCGCACTTGGCCAGAACACGGCCATTTTAGTTCCCCTCCTTAGAGGAGTAAGGCCAGGAATGAGCCTGTGGTCTGAAAGCCGTGGCTGTTGGTTAATGTGGAGAAGGGAAGGTGGTGAGAGCCAGCCCAAACCCCTGCCGAGTGAGACTGATTCTGGCAGCTTTAGGGAGCAGGGATGAGCCCCTCACAGGCTGGGTGGTAGTTAGAGGAGGCAGATTTCAGAAGGCCACGCAGCGCTCTTTCTCAGCAGGTCAGGCAGGCAGCAGAGGTCGGGCAGGGGCATGGGGTCGAGGGCCCGATGCTGGTGTGTTCACTAGAGGAGAGCCACAAGCAGGGATTCTGGGTCAGGTGCAGGCCTAGGGCTTAGTGTGCACTTGTGGTTCTGAGACTGTCCCATGACTTCCTGCCAGCATTCCGGCAGCTCTAGTGGGACTCCCTCCTGGTCCAGGTGAGGCCACCATTGCTGCCCTGGCTTGCTGCTGTCCTCTCAGCCCCCAGTCTGTCACCTGGTGGGAGTTAAAGGGACCTGCTGGGGTTTGAGGAAGCTCTGAGCCGTTCCCTGTACGAAGCCTGTGGTCATCTCAGGCTGCAGGAGACACAGGAGATACGAGCTTTGGAGGTGGGGCTCTCAGTCACAAGCCCCCGTTGTTCCTCCCTGTCCTCCGCTCACGGCACTGCTCCAGTTGCCGGGGCCAGGGTTCTTGGAGAGCACATCCTCACCGCTGTCCCCTCTGCTGGTGACAGCACGCAGTGGAAGCACTCTGGAAGGCGGTCGCGGATCTGTTGCAGCCGGAGCGGCCGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGTAAGGCCCAGGGCGACGCTGGGATGGGTGACGTCAGGCTGCCCACTGACTGTCCTGTCCCTGCTGGGCCGTGTTTGGACTCCTGCCTCGGTGAGTTGCTGGGCACAGGGTCTAGGGGCTGATGGGCTCTGGAGCTGGATGGCCTGTGGGGTCTCCTGGTGTCATGAGGTCTGTGTGACCGTAGGCACTGCCTCCTCGCCTGTAAACAGATGGTCACTGCACCTTCCTCTTATGGGATGTTCTGGGGATCATATGAGGCAGTTCTCGCAGAGTGCTGAGATCGTACCTGGCAGCTGGTGTGGGGCTACGGTGTTGTTTTGCCCTTGCACCCTTTCGGGGCCACTCCCCTGCTCACTGCATTCCATCTGTGCTGGTCTTGGCTGACCCTGAACACCCAGGCCTCTTGGTGTTCCTGCCTCCCCTGGTCGGCCACTTCTACTCCTTCATGTCCCAGCTGCTCAGAAGGGCCGTCCACTCTCACAGGCTCTCCTGGGTTTCCCCCACTCAGGCCTTGTCCTCAGTCTCTGAGCACAAGGCTGTCTGCCCTGCACCGAGTGCAGGGGTCGGGCAGGAGCTGTGTCATCCCCTGCTCTGCGCCACCCGCTGTGCCAGGTCCCGACACACAGCAGTTGCTCCCCATACGCCGCTCTGCGGTCGGCCGGTGCATCCGGCCCCCTGCCCTGTACAATGCTGATGCTGCAGACCTGTCTCTTGCAGGGCGCCTCTGTGGGAAGGAGAGGGGTCCAGGGCTGGAGTCCGGGTGCCCCTGCACTTCAGGGACTTCTTGGCAGCCGTGTGGGCGACGCTGGCAGGCTCTGCTGATCCTGTGGCTTTTGTCTTTAGGGCGAGCGTTTGGGGGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTGGAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTACTTGGAGTAAGAGCTGGGTGGGTGCCACCTTGGGTTGGAGGTTTCTCTGGCCTTGACGATCAAGTGTAACCTGGATGGGAAGGACCTGGGGCTGGGGAGGGGCTGCCGTTCTCAGGGATGGCCTGCAGCGGGTATGCCCACCCTGCTTCATGCACCTGGGCTCACCTGCGTGGCCGGAGTGCCCCTGAGGCACGTGTTAAAAATGCAGAGTCCTGGCCTTCACCCCAGACCTGCTGACTGTGAGTCTCTGGGGCTTGGGGCCTCCGAACACCTCTGCAACGGCAGGAGCTGGGCGAGTTCTGTCACTGGGAGGTGGTGCTGCTGACTTGGTCTCAACCGGAGCGTACTGGTCCCGTCTTCCTCCTCCTTTCTCCACTTTGTGGACCTTCCTCCTGCCATCCTGTGGTGGGAGGTTTCCATTAGTCTTGGGTCTCTGTGTCATGATTCTGGGAAGTAGAGAAAGAGGAGGAAGAGATCGGTCTGACTCTGGCTTTGCTGTTCTGTCGCCCAGAAAAGGGCCTCAGTGGCTGGGCTGCCTGCAGGACAGGTGCCGGCCAGGTGCCTACCGTCAGGTTTCCTGTCTGAGGTGACGTGGCCGGCAGCCAAGTGTGCACACGTCTCCTCCGAGCCACTCTCTGCTGGGGGTGGGGAACGCCCAGGAGTCTGGTGATGTCGGCGTCTCCCAGCCTCGGGTTGGGCCCTGAGTGTACGGCATACACACTTCTGCTGCCGCCTCGGCACAGACCCTCTGTGCAGCCCCAGGGGCGGTAGATCCTAGTGTCCGTGCGTAGCCGGCCTGCCCTGGGCTCCCCTGAGCCTCTTCGGGCCCAGTGCGTGGTCTGTCTGTTGCTGCCGGGGGACTGATGATGGGGTTTCTGGCAGTGACGGGTTTGGACACACTGTCCTGCGGCGGGAGGGGGAGGTGAGTGGGAGATGTAGATTCGGCGTCCTCGCAAACTGCCGCCGCTTCTCCCCCAGCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAATAGCTGTTACCTCGACGAGTACATCGCAAGGATGGTTCAGTAAGAAAAGAATTGAGATCCTGTTCTGATAATGGTCCTAAGTTCAGCTCCGCAGTGAATAAAGTTGAAACCACCAAAAAAATAGAGGTTGGGCTGGGCACAATGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGGAGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAACCGGAAGGCAGAGGTTGCAGTGAGCGGAGATCGTGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGAGAAGTACGTAGCTATCTTCTGTTTAGCTCTCATCTGATGTCTTGGTTATCTTTTTGTTGTTTGTTTAGAATGTTGCATGAGCTCTGTCTCACTCATGCTGAACACCCAGCACCGAGAGCAGTGGCTGGCGCACAGCAGGCACCTGAGTGCTTGTTGGGTGGGTGGGACCCCCAGGGAGGATGAGCCATGCGTGTTATTGACGTCATAGAGTGACTAGACCACAGCCCGTGGTGGCTCGGCCATCCAGGCAGTGCTGCCGGGACTGAGCTCGGTGCTCCCTGCAGGATGATCTGTCTGCTGTGCGTCCGGACCGCGTCCTCTGTGGACATAGAGGTCAGTGCCTCCCCTCCCCAGGGCCGGCCCATTTCACCCTGGTTTCTGGGAGGCTGGGGCTTGGGGGTTGAGCCCTGTGTGCCACCTGCTGGCTGTGTAGCCCTGGGCAAGCTGCTCGGTCTCTCTGAGCCTCAGGAGTCCCCCATGTAAGTCAGGATAGCCGGGCGCCTCCATGTGGAGATGTAGCTCAGGGTGGATGACAGCATCAATGACCCACAGTGACAGGGACGTCAG 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Task1_train_22079 | Consider this mutation in TSC2 (TSC complex subunit 2) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | CTTGGGGCCTCCGAACACCTCTGCAACGGCAGGAGCTGGGCGAGTTCTGTCACTGGGAGGTGGTGCTGCTGACTTGGTCTCAACCGGAGCGTACTGGTCCCGTCTTCCTCCTCCTTTCTCCACTTTGTGGACCTTCCTCCTGCCATCCTGTGGTGGGAGGTTTCCATTAGTCTTGGGTCTCTGTGTCATGATTCTGGGAAGTAGAGAAAGAGGAGGAAGAGATCGGTCTGACTCTGGCTTTGCTGTTCTGTCGCCCAGAAAAGGGCCTCAGTGGCTGGGCTGCCTGCAGGACAGGTGCCGGCCAGGTGCCTACCGTCAGGTTTCCTGTCTGAGGTGACGTGGCCGGCAGCCAAGTGTGCACACGTCTCCTCCGAGCCACTCTCTGCTGGGGGTGGGGAACGCCCAGGAGTCTGGTGATGTCGGCGTCTCCCAGCCTCGGGTTGGGCCCTGAGTGTACGGCATACACACTTCTGCTGCCGCCTCGGCACAGACCCTCTGTGCAGCCCCAGGGGCGGTAGATCCTAGTGTCCGTGCGTAGCCGGCCTGCCCTGGGCTCCCCTGAGCCTCTTCGGGCCCAGTGCGTGGTCTGTCTGTTGCTGCCGGGGGACTGATGATGGGGTTTCTGGCAGTGACGGGTTTGGACACACTGTCCTGCGGCGGGAGGGGGAGGTGAGTGGGAGATGTAGATTCGGCGTCCTCGCAAACTGCCGCCGCTTCTCCCCCAGCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAATAGCTGTTACCTCGACGAGTACATCGCAAGGATGGTTCAGTAAGAAAAGAATTGAGATCCTGTTCTGATAATGGTCCTAAGTTCAGCTCCGCAGTGAATAAAGTTGAAACCACCAAAAAAATAGAGGTTGGGCTGGGCACAATGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGGAGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAACCGGAAGGCAGAGGTTGCAGTGAGCGGAGATCGTGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGAGAAGTACGTAGCTATCTTCTGTTTAGCTCTCATCTGATGTCTTGGTTATCTTTTTGTTGTTTGTTTAGAATGTTGCATGAGCTCTGTCTCACTCATGCTGAACACCCAGCACCGAGAGCAGTGGCTGGCGCACAGCAGGCACCTGAGTGCTTGTTGGGTGGGTGGGACCCCCAGGGAGGATGAGCCATGCGTGTTATTGACGTCATAGAGTGACTAGACCACAGCCCGTGGTGGCTCGGCCATCCAGGCAGTGCTGCCGGGACTGAGCTCGGTGCTCCCTGCAGGATGATCTGTCTGCTGTGCGTCCGGACCGCGTCCTCTGTGGACATAGAGGTCAGTGCCTCCCCTCCCCAGGGCCGGCCCATTTCACCCTGGTTTCTGGGAGGCTGGGGCTTGGGGGTTGAGCCCTGTGTGCCACCTGCTGGCTGTGTAGCCCTGGGCAAGCTGCTCGGTCTCTCTGAGCCTCAGGAGTCCCCCATGTAAGTCAGGATAGCCGGGCGCCTCCATGTGGAGATGTAGCTCAGGGTGGATGACAGCATCAATGACCCACAGTGACAGGGACGTCAGGTGCTTCCCACATGCCCGCTTGCCCTGTGGCTTGGAGAGAGGGTGCCATGGCAGCGGGGAGAGGTGGCAGCGCAGGCTGAAGGAGGTGGGAAGGAAGCCTGGGTGTCCTCTCCTGTGGGGAGGAGCTGGGGTAGGACGGGCGTGAGCCGTCTCCCTCTCCACCAGGTCTCCCTGCAGGTGCTGGACGCCGTGGTCTGCTACAACTGCCTGCCGGCTGAGAGCCTCCCGCTGTTCATCGTTACCCTCTGTCGCACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGAAGGTGGGGTTTCTGAAACTGCTCTGGAAGGTTCCTGAGAGCACATGGATGGGACAAGGGCCATCCTGTCTCCCATGAATGGTTGTCTGATTCTTGGGGTGGCCAGACAATGGCCTGTTGAGGGACGGCCAGTGTCATTTTCCCAGGCAGTTGAGCTGAGGTCAGGGTTTTGGTGGCATTTTGAGAACCCTGCTGCCTCTGTCTTTGGGAGGAGATGGTGGCGAGCTGGCCGGACCTTGGGTGGCTATAGGGCAGCAGCCAGGCGGGGCCAGCAGCGGGACTGGGGCTGGGGGCAGGGCTTATGCCTGCCAGCCCCTGACACGCATTGTGTCTCGCAGCTGATGCGGAACCTCCTTGGCACCCACCTGGGCCACAGCGCCATCTACAACATGTGCCACCTCATGGAGGACAGGTGAGTGTGGTGGGTGGGGCGCAGGGCAGTGGAGGCCAGCACAGCCCTCGGGGCAGCTCCAGTGTCCCTTGCCAAGCACACACTGGCTTAGAGAGTCCTTGTCCTCTCGGGCAGCTGTTCCAGAGGCTGCCACTAGAGCGAGGCCCATGACTTCTAGGATCCAGCCCCTGTCCTCTCCTTCCTCTGTCAGTTCAACAGAATATCCACACCCAGCTCAGTGCCTGCCCCATGCTCGGACGTCCTCCAGCGGTGCTCCCCAACTACTTAGCCTGTTACAAGGCGAGGCTCGGGGTCTTGGCTTGACGTTGCCCTTGCCCTCACCCCCACAGCCAGGCTGTGGCCACTTTTGTTGCTTTAGCCATTAGAGATGGCTCAGCTCTGCCCACACCCTGGCCTCCCACCCATGCTGCCAGCTCCCCCTCCTGCTCTCCTGTATCCATCCGCGCCTCCTGAAGCCCACTCCATGCAGCACCCGGGTGGCCTTTTTCTGACACAGATATGTCGGTGTCACCCTTTGCTGGAAGCCAGGTGGTTCCCAGCGCCCTTGGGATGTAGGCTTCTCCTATGGAACCAGGCCCTGGGGCCAGCCCTGCCTCAGCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCTGCATCTTTCCTTCCCTCCATCCTTGGAACCAGGCCCTGGGGCCCAGCCCTGCCTCAGCCCTGCATCTCTCCTAGCCCTGCCTCAGCCCCTGCATCTCTCCCTCCCTCCTCCCGTAGAACCAGGCCCTGGGGGCCAGCCCTGCCTCAGCCTGCATCTCTCCCAGCCCTGCCCCACCCCCTGCATCTCTCCTTTCCTCCATCTTGCCTTCTCCCCTCCACCAAGGGCTTGTGCATGCCCTGATTCCTCTTGCCAGCAGGTTCTTCCACCTTTGCCGAGTTACTCTGTTTACTGAGGTCTTAGCGTGGTCACTGACTCCCCCACCTCCCTGAGTAGTTTTTGCTGTGGCTTTCCTTCTTGGCTGTGATTGGAGGAAGAGATTTTGCGTTTACCTGGGAGATTATGTGGCTGGCGCCTGTCTCCCCCAGACTGCGAGGCTGTGGGCCATCCCTCTTGCCTGCTTCCTGTCCCTGGCATGACCTGTAGCTCACAGCGTGGTCAGCAGTGATGGGCTGCCGCCTGTGCGCAGGAGTGAACAAGAGTGTTACTGCTGGCCTCTGTTCCCTGCCCTTCCCCAGCGGTGCTCCTGCCCCCCCCAAGCACAGGGACCTCTGGGGCTGCTGCAGGAGCCTCGGCAACCTCACACATCCATGGCGGACCCTGGGACAGGGCCCTGCTCACATTCCGTCTCTCTGGGGAACACTTTTAGAGCCTACATGGAGGACGCGCCCCTGC 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CTTGGGGCCTCCGAACACCTCTGCAACGGCAGGAGCTGGGCGAGTTCTGTCACTGGGAGGTGGTGCTGCTGACTTGGTCTCAACCGGAGCGTACTGGTCCCGTCTTCCTCCTCCTTTCTCCACTTTGTGGACCTTCCTCCTGCCATCCTGTGGTGGGAGGTTTCCATTAGTCTTGGGTCTCTGTGTCATGATTCTGGGAAGTAGAGAAAGAGGAGGAAGAGATCGGTCTGACTCTGGCTTTGCTGTTCTGTCGCCCAGAAAAGGGCCTCAGTGGCTGGGCTGCCTGCAGGACAGGTGCCGGCCAGGTGCCTACCGTCAGGTTTCCTGTCTGAGGTGACGTGGCCGGCAGCCAAGTGTGCACACGTCTCCTCCGAGCCACTCTCTGCTGGGGGTGGGGAACGCCCAGGAGTCTGGTGATGTCGGCGTCTCCCAGCCTCGGGTTGGGCCCTGAGTGTACGGCATACACACTTCTGCTGCCGCCTCGGCACAGACCCTCTGTGCAGCCCCAGGGGCGGTAGATCCTAGTGTCCGTGCGTAGCCGGCCTGCCCTGGGCTCCCCTGAGCCTCTTCGGGCCCAGTGCGTGGTCTGTCTGTTGCTGCCGGGGGACTGATGATGGGGTTTCTGGCAGTGACGGGTTTGGACACACTGTCCTGCGGCGGGAGGGGGAGGTGAGTGGGAGATGTAGATTCGGCGTCCTCGCAAACTGCCGCCGCTTCTCCCCCAGCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAATAGCTGTTACCTCGACGAGTACATCGCAAGGATGGTTCAGTAAGAAAAGAATTGAGATCCTGTTCTGATAATGGTCCTAAGTTCAGCTCCGCAGTGAATAAAGTTGAAACCACCAAAAAAATAGAGGTTGGGCTGGGCACAATGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGGAGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAACCGGAAGGCAGAGGTTGCAGTGAGCGGAGATCGTGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGAGAAGTACGTAGCTATCTTCTGTTTAGCTCTCATCTGATGTCTTGGTTATCTTTTTGTTGTTTGTTTAGAATGTTGCATGAGCTCTGTCTCACTCATGCTGAACACCCAGCACCGAGAGCAGTGGCTGGCGCACAGCAGGCACCTGAGTGCTTGTTGGGTGGGTGGGACCCCCAGGGAGGATGAGCCATGCGTGTTATTGACGTCATAGAGTGACTAGACCACAGCCCGTGGTGGCTCGGCCATCCAGGCAGTGCTGCCGGGACTGAGCTCGGTGCTCCCTGCAGGATGATCTGTCTGCTGTGCGTCCGGACCGCGTCCTCTGTGGACATAGAGGTCAGTGCCTCCCCTCCCCAGGGCCGGCCCATTTCACCCTGGTTTCTGGGAGGCTGGGGCTTGGGGGTTGAGCCCTGTGTGCCACCTGCTGGCTGTGTAGCCCTGGGCAAGCTGCTCGGTCTCTCTGAGCCTCAGGAGTCCCCCATGTAAGTCAGGATAGCCGGGCGCCTCCATGTGGAGATGTAGCTCAGGGTGGATGACAGCATCAATGACCCACAGTGACAGGGACGTCAGGTGCTTCCCACATGCCCGCTTGCCCTGTGGCTTGGAGAGAGGGTGCCATGGCAGCGGGGAGAGGTGGCAGCGCAGGCTGAAGGAGGTGGGAAGGAAGCCTGGGTGTCCTCTCCTGTGGGGAGGAGCTGGGGTAGGACGGGCGTGAGCCGTCTCCCTCTCCACCAGGTCTCCCTGCAGGTGCTGGACGCCGTGGTCTGCTACAACTGCCTGCCGGCTGAGAGCCTCCCGCTGTTCATCGTTACCCTCCGTCGCACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGAAGGTGGGGTTTCTGAAACTGCTCTGGAAGGTTCCTGAGAGCACATGGATGGGACAAGGGCCATCCTGTCTCCCATGAATGGTTGTCTGATTCTTGGGGTGGCCAGACAATGGCCTGTTGAGGGACGGCCAGTGTCATTTTCCCAGGCAGTTGAGCTGAGGTCAGGGTTTTGGTGGCATTTTGAGAACCCTGCTGCCTCTGTCTTTGGGAGGAGATGGTGGCGAGCTGGCCGGACCTTGGGTGGCTATAGGGCAGCAGCCAGGCGGGGCCAGCAGCGGGACTGGGGCTGGGGGCAGGGCTTATGCCTGCCAGCCCCTGACACGCATTGTGTCTCGCAGCTGATGCGGAACCTCCTTGGCACCCACCTGGGCCACAGCGCCATCTACAACATGTGCCACCTCATGGAGGACAGGTGAGTGTGGTGGGTGGGGCGCAGGGCAGTGGAGGCCAGCACAGCCCTCGGGGCAGCTCCAGTGTCCCTTGCCAAGCACACACTGGCTTAGAGAGTCCTTGTCCTCTCGGGCAGCTGTTCCAGAGGCTGCCACTAGAGCGAGGCCCATGACTTCTAGGATCCAGCCCCTGTCCTCTCCTTCCTCTGTCAGTTCAACAGAATATCCACACCCAGCTCAGTGCCTGCCCCATGCTCGGACGTCCTCCAGCGGTGCTCCCCAACTACTTAGCCTGTTACAAGGCGAGGCTCGGGGTCTTGGCTTGACGTTGCCCTTGCCCTCACCCCCACAGCCAGGCTGTGGCCACTTTTGTTGCTTTAGCCATTAGAGATGGCTCAGCTCTGCCCACACCCTGGCCTCCCACCCATGCTGCCAGCTCCCCCTCCTGCTCTCCTGTATCCATCCGCGCCTCCTGAAGCCCACTCCATGCAGCACCCGGGTGGCCTTTTTCTGACACAGATATGTCGGTGTCACCCTTTGCTGGAAGCCAGGTGGTTCCCAGCGCCCTTGGGATGTAGGCTTCTCCTATGGAACCAGGCCCTGGGGCCAGCCCTGCCTCAGCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCTGCATCTTTCCTTCCCTCCATCCTTGGAACCAGGCCCTGGGGCCCAGCCCTGCCTCAGCCCTGCATCTCTCCTAGCCCTGCCTCAGCCCCTGCATCTCTCCCTCCCTCCTCCCGTAGAACCAGGCCCTGGGGGCCAGCCCTGCCTCAGCCTGCATCTCTCCCAGCCCTGCCCCACCCCCTGCATCTCTCCTTTCCTCCATCTTGCCTTCTCCCCTCCACCAAGGGCTTGTGCATGCCCTGATTCCTCTTGCCAGCAGGTTCTTCCACCTTTGCCGAGTTACTCTGTTTACTGAGGTCTTAGCGTGGTCACTGACTCCCCCACCTCCCTGAGTAGTTTTTGCTGTGGCTTTCCTTCTTGGCTGTGATTGGAGGAAGAGATTTTGCGTTTACCTGGGAGATTATGTGGCTGGCGCCTGTCTCCCCCAGACTGCGAGGCTGTGGGCCATCCCTCTTGCCTGCTTCCTGTCCCTGGCATGACCTGTAGCTCACAGCGTGGTCAGCAGTGATGGGCTGCCGCCTGTGCGCAGGAGTGAACAAGAGTGTTACTGCTGGCCTCTGTTCCCTGCCCTTCCCCAGCGGTGCTCCTGCCCCCCCCAAGCACAGGGACCTCTGGGGCTGCTGCAGGAGCCTCGGCAACCTCACACATCCATGGCGGACCCTGGGACAGGGCCCTGCTCACATTCCGTCTCTCTGGGGAACACTTTTAGAGCCTACATGGAGGACGCGCCCCTGC 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Task1_train_22080 | The gene TSC2 (TSC complex subunit 2), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Tuberous sclerosis 2 | CACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGAAGGTGGGGTTTCTGAAACTGCTCTGGAAGGTTCCTGAGAGCACATGGATGGGACAAGGGCCATCCTGTCTCCCATGAATGGTTGTCTGATTCTTGGGGTGGCCAGACAATGGCCTGTTGAGGGACGGCCAGTGTCATTTTCCCAGGCAGTTGAGCTGAGGTCAGGGTTTTGGTGGCATTTTGAGAACCCTGCTGCCTCTGTCTTTGGGAGGAGATGGTGGCGAGCTGGCCGGACCTTGGGTGGCTATAGGGCAGCAGCCAGGCGGGGCCAGCAGCGGGACTGGGGCTGGGGGCAGGGCTTATGCCTGCCAGCCCCTGACACGCATTGTGTCTCGCAGCTGATGCGGAACCTCCTTGGCACCCACCTGGGCCACAGCGCCATCTACAACATGTGCCACCTCATGGAGGACAGGTGAGTGTGGTGGGTGGGGCGCAGGGCAGTGGAGGCCAGCACAGCCCTCGGGGCAGCTCCAGTGTCCCTTGCCAAGCACACACTGGCTTAGAGAGTCCTTGTCCTCTCGGGCAGCTGTTCCAGAGGCTGCCACTAGAGCGAGGCCCATGACTTCTAGGATCCAGCCCCTGTCCTCTCCTTCCTCTGTCAGTTCAACAGAATATCCACACCCAGCTCAGTGCCTGCCCCATGCTCGGACGTCCTCCAGCGGTGCTCCCCAACTACTTAGCCTGTTACAAGGCGAGGCTCGGGGTCTTGGCTTGACGTTGCCCTTGCCCTCACCCCCACAGCCAGGCTGTGGCCACTTTTGTTGCTTTAGCCATTAGAGATGGCTCAGCTCTGCCCACACCCTGGCCTCCCACCCATGCTGCCAGCTCCCCCTCCTGCTCTCCTGTATCCATCCGCGCCTCCTGAAGCCCACTCCATGCAGCACCCGGGTGGCCTTTTTCTGACACAGATATGTCGGTGTCACCCTTTGCTGGAAGCCAGGTGGTTCCCAGCGCCCTTGGGATGTAGGCTTCTCCTATGGAACCAGGCCCTGGGGCCAGCCCTGCCTCAGCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCTGCATCTTTCCTTCCCTCCATCCTTGGAACCAGGCCCTGGGGCCCAGCCCTGCCTCAGCCCTGCATCTCTCCTAGCCCTGCCTCAGCCCCTGCATCTCTCCCTCCCTCCTCCCGTAGAACCAGGCCCTGGGGGCCAGCCCTGCCTCAGCCTGCATCTCTCCCAGCCCTGCCCCACCCCCTGCATCTCTCCTTTCCTCCATCTTGCCTTCTCCCCTCCACCAAGGGCTTGTGCATGCCCTGATTCCTCTTGCCAGCAGGTTCTTCCACCTTTGCCGAGTTACTCTGTTTACTGAGGTCTTAGCGTGGTCACTGACTCCCCCACCTCCCTGAGTAGTTTTTGCTGTGGCTTTCCTTCTTGGCTGTGATTGGAGGAAGAGATTTTGCGTTTACCTGGGAGATTATGTGGCTGGCGCCTGTCTCCCCCAGACTGCGAGGCTGTGGGCCATCCCTCTTGCCTGCTTCCTGTCCCTGGCATGACCTGTAGCTCACAGCGTGGTCAGCAGTGATGGGCTGCCGCCTGTGCGCAGGAGTGAACAAGAGTGTTACTGCTGGCCTCTGTTCCCTGCCCTTCCCCAGCGGTGCTCCTGCCCCCCCCAAGCACAGGGACCTCTGGGGCTGCTGCAGGAGCCTCGGCAACCTCACACATCCATGGCGGACCCTGGGACAGGGCCCTGCTCACATTCCGTCTCTCTGGGGAACACTTTTAGAGCCTACATGGAGGACGCGCCCCTGCTGAGAGGAGCCGTGTTTTTTGTGGGCATGGCTCTCTGGGGAGCCCACCGGCTCTATTCTCTCAGGAACTCGCCGACATCTGTGTTGCCATCATTTTACCAGGTAAGGCGGTTTCTGTGTGCAGTGAGCTGGCAGGAACGGGAGAGCTCCCCTCACGCCTGCCCACCCATCCCACTGGGGGTCCTGCTGCGGGGGCTGCGGTGGCATTTCTAGGCCTTTCCAGGCAGTTGCTTTGCAGCTGGGGGTGAGGTTTGGGGCCCTTTGTAGGCTTTAGTCTTTTTTTTTTTTTTGAGAAGGAGTTCTGCTCTTTCTGCTTGGCTGACTGCAATCTCCGCCTCCCGGATTCAAGTGATTCTATTGCCTCAGACTCCTGAGTAGCTGGGATTACAGGTGCCTGGTACCATGCCTGGCTAATTTTGTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTGAAGTGATCCACCCATCTCAGACTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCATGCCTGGCCAAAGGCTTTTTTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTACTCTTGTTGCCCAGGGTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGCCATTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACAGTGCCTGGCTAATGGTTTTTTTTTTTTTTTTTTTTTTTTAATGGGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCAGCGCAACCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGGGCCACTACACACAGCTAATTTTTTATTTTTAGTAGAGACTGGGTTTCTCCACATTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCGCCAGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGTATGAGTCACCGTGCCCGGCCAAGGCTAATGTTTTGTATTTTTATTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGTCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACTGCGCGCAGCCCAAAGGCTTTATTCTCAAGCAAACCTTACATCTTGCGAGTTTCACCTTCTGGAGTTGGCAGTGGAGGGGTGAACGCTGCCTCGGGGGTAGCCGTTCTCTTGCTGTTGGCGGCTCTGTTTTGTCAAGTGCTGGTCTTGTCCTGTCTCTGCAATGACGCCGTGGCACAGACGCTGGTGGTACAGCTTCAGTTTCCGCAGTGCCCCGTGATGACAGCGCTTTTTGTGTCCGTCCTCGTTCTGTGCTCACAGCTCCCTGGAGGGTGGGGCGATCACGTCGTCCTGGTTTTATAGTGATGAGCTGCGGTGTGGGTCACAGGGCTCTCCTGATCCTCTGCTCTTCCTGCTACCCCCCTCCCCGTAGGGGCGGTGGGGGGATGTTGTCTTTGTGCACAGCTTGCAGCCGAACTCAGGGCAGCTTTCAGTTGCTGCTGGGCTGGCCCACCGGGTGCCCAGGATTCAGTTGCTGGTCTGTCCGAGTCAGGGACTTTGCAGGCAGGCATGGGGGTGGGGCCCGTCTGGGTCCTGACTGTGCTGGAGCATGTAGAAACCCCTCCTGGGCGCCCCACCTGCTGTTTCTGCGGCCCCTGATAAACGTGTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGGTGGGGTGGGGG 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CACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGAAGGTGGGGTTTCTGAAACTGCTCTGGAAGGTTCCTGAGAGCACATGGATGGGACAAGGGCCATCCTGTCTCCCATGAATGGTTGTCTGATTCTTGGGGTGGCCAGACAATGGCCTGTTGAGGGACGGCCAGTGTCATTTTCCCAGGCAGTTGAGCTGAGGTCAGGGTTTTGGTGGCATTTTGAGAACCCTGCTGCCTCTGTCTTTGGGAGGAGATGGTGGCGAGCTGGCCGGACCTTGGGTGGCTATAGGGCAGCAGCCAGGCGGGGCCAGCAGCGGGACTGGGGCTGGGGGCAGGGCTTATGCCTGCCAGCCCCTGACACGCATTGTGTCTCGCAGCTGATGCGGAACCTCCTTGGCACCCACCTGGGCCACAGCGCCATCTACAACATGTGCCACCTCATGGAGGACAGGTGAGTGTGGTGGGTGGGGCGCAGGGCAGTGGAGGCCAGCACAGCCCTCGGGGCAGCTCCAGTGTCCCTTGCCAAGCACACACTGGCTTAGAGAGTCCTTGTCCTCTCGGGCAGCTGTTCCAGAGGCTGCCACTAGAGCGAGGCCCATGACTTCTAGGATCCAGCCCCTGTCCTCTCCTTCCTCTGTCAGTTCAACAGAATATCCACACCCAGCTCAGTGCCTGCCCCATGCTCGGACGTCCTCCAGCGGTGCTCCCCAACTACTTAGCCTGTTACAAGGCGAGGCTCGGGGTCTTGGCTTGACGTTGCCCTTGCCCTCACCCCCACAGCCAGGCTGTGGCCACTTTTGTTGCTTTAGCCATTAGAGATGGCTCAGCTCTGCCCACACCCTGGCCTCCCACCCATGCTGCCAGCTCCCCCTCCTGCTCTCCTGTATCCATCCGCGCCTCCTGAAGCCCACTCCATGCAGCACCCGGGTGGCCTTTTTCTGACACAGATATGTCGGTGTCACCCTTTGCTGGAAGCCAGGTGGTTCCCAGCGCCCTTGGGATGTAGGCTTCTCCTATGGAACCAGGCCCTGGGGCCAGCCCTGCCTCAGCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCTGCATCTTTCCTTCCCTCCATCCTTGGAACCAGGCCCTGGGGCCCAGCCCTGCCTCAGCCCTGCATCTCTCCTAGCCCTGCCTCAGCCCCTGCATCTCTCCCTCCCTCCTCCCGTAGAACCAGGCCCTGGGGGCCAGCCCTGCCTCAGCCTGCATCTCTCCCAGCCCTGCCCCACCCCCTGCATCTCTCCTTTCCTCCATCTTGCCTTCTCCCCTCCACCAAGGGCTTGTGCATGCCCTGATTCCTCTTGCCAGCAGGTTCTTCCACCTTTGCCGAGTTACTCTGTTTACTGAGGTCTTAGCGTGGTCACTGACTCCCCCACCTCCCTGAGTAGTTTTTGCTGTGGCTTTCCTTCTTGGCTGTGATTGGAGGAAGAGATTTTGCGTTTACCTGGGAGATTATGTGGCTGGCGCCTGTCTCCCCCAGACTGCGAGGCTGTGGGCCATCCCTCTTGCCTGCTTCCTGTCCCTGGCATGACCTGTAGCTCACAGCGTGGTCAGCAGTGATGGGCTGCCGCCTGTGCGCAGGAGTGAACAAGAGTGTTACTGCTGGCCTCTGTTCCCTGCCCTTCCCCAGCGGTGCTCCTGCCCCCCCCAAGCACAGGGACCTCTGGGGCTGCTGCAGGAGCCTCGGCAACCTCACACATCCATGGCGGACCCTGGGACAGGGCCCTGCTCACATTCCGTCTCTCTGGGGAACACTTTTAGAGCCTACATGGAGGACGCGCCCCTGCTGAGAAGAGCCGTGTTTTTTGTGGGCATGGCTCTCTGGGGAGCCCACCGGCTCTATTCTCTCAGGAACTCGCCGACATCTGTGTTGCCATCATTTTACCAGGTAAGGCGGTTTCTGTGTGCAGTGAGCTGGCAGGAACGGGAGAGCTCCCCTCACGCCTGCCCACCCATCCCACTGGGGGTCCTGCTGCGGGGGCTGCGGTGGCATTTCTAGGCCTTTCCAGGCAGTTGCTTTGCAGCTGGGGGTGAGGTTTGGGGCCCTTTGTAGGCTTTAGTCTTTTTTTTTTTTTTGAGAAGGAGTTCTGCTCTTTCTGCTTGGCTGACTGCAATCTCCGCCTCCCGGATTCAAGTGATTCTATTGCCTCAGACTCCTGAGTAGCTGGGATTACAGGTGCCTGGTACCATGCCTGGCTAATTTTGTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTGAAGTGATCCACCCATCTCAGACTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCATGCCTGGCCAAAGGCTTTTTTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTACTCTTGTTGCCCAGGGTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGCCATTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACAGTGCCTGGCTAATGGTTTTTTTTTTTTTTTTTTTTTTTTAATGGGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCAGCGCAACCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGGGCCACTACACACAGCTAATTTTTTATTTTTAGTAGAGACTGGGTTTCTCCACATTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCGCCAGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGTATGAGTCACCGTGCCCGGCCAAGGCTAATGTTTTGTATTTTTATTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGTCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACTGCGCGCAGCCCAAAGGCTTTATTCTCAAGCAAACCTTACATCTTGCGAGTTTCACCTTCTGGAGTTGGCAGTGGAGGGGTGAACGCTGCCTCGGGGGTAGCCGTTCTCTTGCTGTTGGCGGCTCTGTTTTGTCAAGTGCTGGTCTTGTCCTGTCTCTGCAATGACGCCGTGGCACAGACGCTGGTGGTACAGCTTCAGTTTCCGCAGTGCCCCGTGATGACAGCGCTTTTTGTGTCCGTCCTCGTTCTGTGCTCACAGCTCCCTGGAGGGTGGGGCGATCACGTCGTCCTGGTTTTATAGTGATGAGCTGCGGTGTGGGTCACAGGGCTCTCCTGATCCTCTGCTCTTCCTGCTACCCCCCTCCCCGTAGGGGCGGTGGGGGGATGTTGTCTTTGTGCACAGCTTGCAGCCGAACTCAGGGCAGCTTTCAGTTGCTGCTGGGCTGGCCCACCGGGTGCCCAGGATTCAGTTGCTGGTCTGTCCGAGTCAGGGACTTTGCAGGCAGGCATGGGGGTGGGGCCCGTCTGGGTCCTGACTGTGCTGGAGCATGTAGAAACCCCTCCTGGGCGCCCCACCTGCTGTTTCTGCGGCCCCTGATAAACGTGTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGGTGGGGTGGGGG 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Task1_train_22081 | A change on Chromosome 16 affects gene TSC2 (TSC complex subunit 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Tuberous sclerosis syndrome | CACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGAAGGTGGGGTTTCTGAAACTGCTCTGGAAGGTTCCTGAGAGCACATGGATGGGACAAGGGCCATCCTGTCTCCCATGAATGGTTGTCTGATTCTTGGGGTGGCCAGACAATGGCCTGTTGAGGGACGGCCAGTGTCATTTTCCCAGGCAGTTGAGCTGAGGTCAGGGTTTTGGTGGCATTTTGAGAACCCTGCTGCCTCTGTCTTTGGGAGGAGATGGTGGCGAGCTGGCCGGACCTTGGGTGGCTATAGGGCAGCAGCCAGGCGGGGCCAGCAGCGGGACTGGGGCTGGGGGCAGGGCTTATGCCTGCCAGCCCCTGACACGCATTGTGTCTCGCAGCTGATGCGGAACCTCCTTGGCACCCACCTGGGCCACAGCGCCATCTACAACATGTGCCACCTCATGGAGGACAGGTGAGTGTGGTGGGTGGGGCGCAGGGCAGTGGAGGCCAGCACAGCCCTCGGGGCAGCTCCAGTGTCCCTTGCCAAGCACACACTGGCTTAGAGAGTCCTTGTCCTCTCGGGCAGCTGTTCCAGAGGCTGCCACTAGAGCGAGGCCCATGACTTCTAGGATCCAGCCCCTGTCCTCTCCTTCCTCTGTCAGTTCAACAGAATATCCACACCCAGCTCAGTGCCTGCCCCATGCTCGGACGTCCTCCAGCGGTGCTCCCCAACTACTTAGCCTGTTACAAGGCGAGGCTCGGGGTCTTGGCTTGACGTTGCCCTTGCCCTCACCCCCACAGCCAGGCTGTGGCCACTTTTGTTGCTTTAGCCATTAGAGATGGCTCAGCTCTGCCCACACCCTGGCCTCCCACCCATGCTGCCAGCTCCCCCTCCTGCTCTCCTGTATCCATCCGCGCCTCCTGAAGCCCACTCCATGCAGCACCCGGGTGGCCTTTTTCTGACACAGATATGTCGGTGTCACCCTTTGCTGGAAGCCAGGTGGTTCCCAGCGCCCTTGGGATGTAGGCTTCTCCTATGGAACCAGGCCCTGGGGCCAGCCCTGCCTCAGCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCTGCATCTTTCCTTCCCTCCATCCTTGGAACCAGGCCCTGGGGCCCAGCCCTGCCTCAGCCCTGCATCTCTCCTAGCCCTGCCTCAGCCCCTGCATCTCTCCCTCCCTCCTCCCGTAGAACCAGGCCCTGGGGGCCAGCCCTGCCTCAGCCTGCATCTCTCCCAGCCCTGCCCCACCCCCTGCATCTCTCCTTTCCTCCATCTTGCCTTCTCCCCTCCACCAAGGGCTTGTGCATGCCCTGATTCCTCTTGCCAGCAGGTTCTTCCACCTTTGCCGAGTTACTCTGTTTACTGAGGTCTTAGCGTGGTCACTGACTCCCCCACCTCCCTGAGTAGTTTTTGCTGTGGCTTTCCTTCTTGGCTGTGATTGGAGGAAGAGATTTTGCGTTTACCTGGGAGATTATGTGGCTGGCGCCTGTCTCCCCCAGACTGCGAGGCTGTGGGCCATCCCTCTTGCCTGCTTCCTGTCCCTGGCATGACCTGTAGCTCACAGCGTGGTCAGCAGTGATGGGCTGCCGCCTGTGCGCAGGAGTGAACAAGAGTGTTACTGCTGGCCTCTGTTCCCTGCCCTTCCCCAGCGGTGCTCCTGCCCCCCCCAAGCACAGGGACCTCTGGGGCTGCTGCAGGAGCCTCGGCAACCTCACACATCCATGGCGGACCCTGGGACAGGGCCCTGCTCACATTCCGTCTCTCTGGGGAACACTTTTAGAGCCTACATGGAGGACGCGCCCCTGCTGAGAGGAGCCGTGTTTTTTGTGGGCATGGCTCTCTGGGGAGCCCACCGGCTCTATTCTCTCAGGAACTCGCCGACATCTGTGTTGCCATCATTTTACCAGGTAAGGCGGTTTCTGTGTGCAGTGAGCTGGCAGGAACGGGAGAGCTCCCCTCACGCCTGCCCACCCATCCCACTGGGGGTCCTGCTGCGGGGGCTGCGGTGGCATTTCTAGGCCTTTCCAGGCAGTTGCTTTGCAGCTGGGGGTGAGGTTTGGGGCCCTTTGTAGGCTTTAGTCTTTTTTTTTTTTTTGAGAAGGAGTTCTGCTCTTTCTGCTTGGCTGACTGCAATCTCCGCCTCCCGGATTCAAGTGATTCTATTGCCTCAGACTCCTGAGTAGCTGGGATTACAGGTGCCTGGTACCATGCCTGGCTAATTTTGTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTGAAGTGATCCACCCATCTCAGACTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCATGCCTGGCCAAAGGCTTTTTTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTACTCTTGTTGCCCAGGGTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGCCATTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACAGTGCCTGGCTAATGGTTTTTTTTTTTTTTTTTTTTTTTTAATGGGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCAGCGCAACCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGGGCCACTACACACAGCTAATTTTTTATTTTTAGTAGAGACTGGGTTTCTCCACATTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCGCCAGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGTATGAGTCACCGTGCCCGGCCAAGGCTAATGTTTTGTATTTTTATTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGTCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACTGCGCGCAGCCCAAAGGCTTTATTCTCAAGCAAACCTTACATCTTGCGAGTTTCACCTTCTGGAGTTGGCAGTGGAGGGGTGAACGCTGCCTCGGGGGTAGCCGTTCTCTTGCTGTTGGCGGCTCTGTTTTGTCAAGTGCTGGTCTTGTCCTGTCTCTGCAATGACGCCGTGGCACAGACGCTGGTGGTACAGCTTCAGTTTCCGCAGTGCCCCGTGATGACAGCGCTTTTTGTGTCCGTCCTCGTTCTGTGCTCACAGCTCCCTGGAGGGTGGGGCGATCACGTCGTCCTGGTTTTATAGTGATGAGCTGCGGTGTGGGTCACAGGGCTCTCCTGATCCTCTGCTCTTCCTGCTACCCCCCTCCCCGTAGGGGCGGTGGGGGGATGTTGTCTTTGTGCACAGCTTGCAGCCGAACTCAGGGCAGCTTTCAGTTGCTGCTGGGCTGGCCCACCGGGTGCCCAGGATTCAGTTGCTGGTCTGTCCGAGTCAGGGACTTTGCAGGCAGGCATGGGGGTGGGGCCCGTCTGGGTCCTGACTGTGCTGGAGCATGTAGAAACCCCTCCTGGGCGCCCCACCTGCTGTTTCTGCGGCCCCTGATAAACGTGTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGGTGGGGTGGGGG 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CACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGAAGGTGGGGTTTCTGAAACTGCTCTGGAAGGTTCCTGAGAGCACATGGATGGGACAAGGGCCATCCTGTCTCCCATGAATGGTTGTCTGATTCTTGGGGTGGCCAGACAATGGCCTGTTGAGGGACGGCCAGTGTCATTTTCCCAGGCAGTTGAGCTGAGGTCAGGGTTTTGGTGGCATTTTGAGAACCCTGCTGCCTCTGTCTTTGGGAGGAGATGGTGGCGAGCTGGCCGGACCTTGGGTGGCTATAGGGCAGCAGCCAGGCGGGGCCAGCAGCGGGACTGGGGCTGGGGGCAGGGCTTATGCCTGCCAGCCCCTGACACGCATTGTGTCTCGCAGCTGATGCGGAACCTCCTTGGCACCCACCTGGGCCACAGCGCCATCTACAACATGTGCCACCTCATGGAGGACAGGTGAGTGTGGTGGGTGGGGCGCAGGGCAGTGGAGGCCAGCACAGCCCTCGGGGCAGCTCCAGTGTCCCTTGCCAAGCACACACTGGCTTAGAGAGTCCTTGTCCTCTCGGGCAGCTGTTCCAGAGGCTGCCACTAGAGCGAGGCCCATGACTTCTAGGATCCAGCCCCTGTCCTCTCCTTCCTCTGTCAGTTCAACAGAATATCCACACCCAGCTCAGTGCCTGCCCCATGCTCGGACGTCCTCCAGCGGTGCTCCCCAACTACTTAGCCTGTTACAAGGCGAGGCTCGGGGTCTTGGCTTGACGTTGCCCTTGCCCTCACCCCCACAGCCAGGCTGTGGCCACTTTTGTTGCTTTAGCCATTAGAGATGGCTCAGCTCTGCCCACACCCTGGCCTCCCACCCATGCTGCCAGCTCCCCCTCCTGCTCTCCTGTATCCATCCGCGCCTCCTGAAGCCCACTCCATGCAGCACCCGGGTGGCCTTTTTCTGACACAGATATGTCGGTGTCACCCTTTGCTGGAAGCCAGGTGGTTCCCAGCGCCCTTGGGATGTAGGCTTCTCCTATGGAACCAGGCCCTGGGGCCAGCCCTGCCTCAGCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCCTGCATCTCTCCCAGCCCTGCCTCGGCCCTGCATCTTTCCTTCCCTCCATCCTTGGAACCAGGCCCTGGGGCCCAGCCCTGCCTCAGCCCTGCATCTCTCCTAGCCCTGCCTCAGCCCCTGCATCTCTCCCTCCCTCCTCCCGTAGAACCAGGCCCTGGGGGCCAGCCCTGCCTCAGCCTGCATCTCTCCCAGCCCTGCCCCACCCCCTGCATCTCTCCTTTCCTCCATCTTGCCTTCTCCCCTCCACCAAGGGCTTGTGCATGCCCTGATTCCTCTTGCCAGCAGGTTCTTCCACCTTTGCCGAGTTACTCTGTTTACTGAGGTCTTAGCGTGGTCACTGACTCCCCCACCTCCCTGAGTAGTTTTTGCTGTGGCTTTCCTTCTTGGCTGTGATTGGAGGAAGAGATTTTGCGTTTACCTGGGAGATTATGTGGCTGGCGCCTGTCTCCCCCAGACTGCGAGGCTGTGGGCCATCCCTCTTGCCTGCTTCCTGTCCCTGGCATGACCTGTAGCTCACAGCGTGGTCAGCAGTGATGGGCTGCCGCCTGTGCGCAGGAGTGAACAAGAGTGTTACTGCTGGCCTCTGTTCCCTGCCCTTCCCCAGCGGTGCTCCTGCCCCCCCCAAGCACAGGGACCTCTGGGGCTGCTGCAGGAGCCTCGGCAACCTCACACATCCATGGCGGACCCTGGGACAGGGCCCTGCTCACATTCCGTCTCTCTGGGGAACACTTTTAGAGCCTACATGGAGGACGCGCCCCTGCTGAGAAGAGCCGTGTTTTTTGTGGGCATGGCTCTCTGGGGAGCCCACCGGCTCTATTCTCTCAGGAACTCGCCGACATCTGTGTTGCCATCATTTTACCAGGTAAGGCGGTTTCTGTGTGCAGTGAGCTGGCAGGAACGGGAGAGCTCCCCTCACGCCTGCCCACCCATCCCACTGGGGGTCCTGCTGCGGGGGCTGCGGTGGCATTTCTAGGCCTTTCCAGGCAGTTGCTTTGCAGCTGGGGGTGAGGTTTGGGGCCCTTTGTAGGCTTTAGTCTTTTTTTTTTTTTTGAGAAGGAGTTCTGCTCTTTCTGCTTGGCTGACTGCAATCTCCGCCTCCCGGATTCAAGTGATTCTATTGCCTCAGACTCCTGAGTAGCTGGGATTACAGGTGCCTGGTACCATGCCTGGCTAATTTTGTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTGAAGTGATCCACCCATCTCAGACTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCATGCCTGGCCAAAGGCTTTTTTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTACTCTTGTTGCCCAGGGTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGCCATTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACAGTGCCTGGCTAATGGTTTTTTTTTTTTTTTTTTTTTTTTAATGGGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCAGCGCAACCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGGGCCACTACACACAGCTAATTTTTTATTTTTAGTAGAGACTGGGTTTCTCCACATTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCGCCAGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGTATGAGTCACCGTGCCCGGCCAAGGCTAATGTTTTGTATTTTTATTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGTCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACTGCGCGCAGCCCAAAGGCTTTATTCTCAAGCAAACCTTACATCTTGCGAGTTTCACCTTCTGGAGTTGGCAGTGGAGGGGTGAACGCTGCCTCGGGGGTAGCCGTTCTCTTGCTGTTGGCGGCTCTGTTTTGTCAAGTGCTGGTCTTGTCCTGTCTCTGCAATGACGCCGTGGCACAGACGCTGGTGGTACAGCTTCAGTTTCCGCAGTGCCCCGTGATGACAGCGCTTTTTGTGTCCGTCCTCGTTCTGTGCTCACAGCTCCCTGGAGGGTGGGGCGATCACGTCGTCCTGGTTTTATAGTGATGAGCTGCGGTGTGGGTCACAGGGCTCTCCTGATCCTCTGCTCTTCCTGCTACCCCCCTCCCCGTAGGGGCGGTGGGGGGATGTTGTCTTTGTGCACAGCTTGCAGCCGAACTCAGGGCAGCTTTCAGTTGCTGCTGGGCTGGCCCACCGGGTGCCCAGGATTCAGTTGCTGGTCTGTCCGAGTCAGGGACTTTGCAGGCAGGCATGGGGGTGGGGCCCGTCTGGGTCCTGACTGTGCTGGAGCATGTAGAAACCCCTCCTGGGCGCCCCACCTGCTGTTTCTGCGGCCCCTGATAAACGTGTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGGTGGGGTGGGGG 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Task1_train_22082 | An alteration has been detected in TSC2 (TSC complex subunit 2) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Tuberous sclerosis 2 | GCCCAAAGGCTTTATTCTCAAGCAAACCTTACATCTTGCGAGTTTCACCTTCTGGAGTTGGCAGTGGAGGGGTGAACGCTGCCTCGGGGGTAGCCGTTCTCTTGCTGTTGGCGGCTCTGTTTTGTCAAGTGCTGGTCTTGTCCTGTCTCTGCAATGACGCCGTGGCACAGACGCTGGTGGTACAGCTTCAGTTTCCGCAGTGCCCCGTGATGACAGCGCTTTTTGTGTCCGTCCTCGTTCTGTGCTCACAGCTCCCTGGAGGGTGGGGCGATCACGTCGTCCTGGTTTTATAGTGATGAGCTGCGGTGTGGGTCACAGGGCTCTCCTGATCCTCTGCTCTTCCTGCTACCCCCCTCCCCGTAGGGGCGGTGGGGGGATGTTGTCTTTGTGCACAGCTTGCAGCCGAACTCAGGGCAGCTTTCAGTTGCTGCTGGGCTGGCCCACCGGGTGCCCAGGATTCAGTTGCTGGTCTGTCCGAGTCAGGGACTTTGCAGGCAGGCATGGGGGTGGGGCCCGTCTGGGTCCTGACTGTGCTGGAGCATGTAGAAACCCCTCCTGGGCGCCCCACCTGCTGTTTCTGCGGCCCCTGATAAACGTGTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGGTGGGGTGGGGGCAGGAGCTCCGGGGAGCACCGGGAACCCAGACAGGCAGGCTCGGCCCACTCAGAAGATGGTACCTTGGGCCCCATCTCTGGGGGTCCCGCAGAGACTGCCAGAACCGTGTTCTCTGGTGATTCGCAGTGGCGCTCATCCACCTTCCACCGGAGACAGGTCTGATTTTTCCAGACGTGGTGCATCGTTTAGGCCCCAGACAGGAATATGCAGTAGGTGAGCCGGGGCTGGGCCAGTGCTGTCCACAGTCCGCAGAGTGACCTGCAGGCCGCCTTCGTGGCCTGAGTGGGCCCCGGCACAGTTCCCAGAGGGATGCCAGTGTGGCTTCCGCATGACTTTGGAGGACCGCATTAGTCGAGTCTGTTAACCACAGCTTTAAGGAGGACTCCACGGCCACACGGGCTCATCAGCATAGGGGCCCTGGGGAGGCGAGGCTAGTATCCAGCAGCCTCAGGGCTGTGCCTTTTCCTGGAGCCTGGGGCGGGTGATGTACAGGAGGCCAGGCAGCAGAAGGGAGGCCGGGACTTCGCCGGGACTTAGCAGGGACTGAAGTCCTCTCAGAGCCTGTCGCTGGGCCAGAGCATTGCCCCCGACCGCTGGTGGCAGTGGCAGAGGTCATAGCCTGGGGCTTCTAAAAGAGGCTGGACCTGGGAGAGGCAAGAAAGGCTTGTAGTTGTGGCTACTCTTGGCCCTCCTGCCCGAGCTTCCTTCTTGGCCCAGCTGCATGGGCACAGCCAAGATTCCTTGGGGGGTGGGGTACGGGCAGGAACAGCAGCTGCCATCACAGCCACTGTGGCCCCTTGAGAGGATCTGGGGGGTGTCCTGGGCCACGTGGGTCAGGGTGGCCCCTGGAGAGGATCTGGGGGTGTCTCAACCCATGAGGCCCGGAGCGGCCTCAGAGGGCTGGGGGCGTCTGTCCCCATGCGGCCCAGAGCGGCCTGAGAGGGCTGAGGGTGTCTCCATGCGGTGGGTGTGTAGCGAGGCCTCTGGTGCCAAGTCCATGTGGGGAGTGGAAGTCAGCCTGTGTCATCGTGCCTGGTACTGCAGACCTTGGACAGCCCGGAGCTCAGGACCATCGTCCATGACCTGTTGACCACGGTGGAGGAGCTGTGTGACCAGAACGAGTTCCACGGGTCTCAGGAGAGATACTTTGAACTGGTGGAGAGATGTGCGGACCAGAGGCCTGTGAGACCCCCTCCTGGGTGGGGCCTTTGGGCTTTGGCTGGTGGGGAGGGGCCGGGTGCTGGGTGAAGTGCAGCTTTCTGAGCCTCAGAAGCCAAGGGCCAGGTGGGCGCCTGCTTTCCAGGTTTCTGCACTCGGCAGGGAAGGCTGGCAGGCACAGCACGTGTTTGGTAACAAGCTCGGGGCTAGCCCACCCATCAGTTTCCTCCCACCTGTGTGGAGCAAGCTTCCATCCGGCTCTGTAGAGTCCTGTGGCTCCCAGGCGGCCGCAGTCATTTTGCCAGGAACACTCAGCTTAGGGCCCAGGCTTTTCCATGGGTTTGGACACAAGTCTTCCCCGCTGCCAGGAGTGCCTTTGTGTCTGGGCTGTGGGCTGCAGGCTGTGAGGCGGCTGGGCTCTGACAGCAAACCAGCCTCTCGACCAGCAGCCCAGTGTGGAGAAGGAGAGCGCCGGAGGGGCAGAGGGGCAACACCGGCTCTTCTTTTGACAGGAGTCCTCCCTCCTGAACCTGATCTCCTATAGAGCGCAGTCCATCCACCCGGCCAAGGACGGCTGGATTCAGAACCTGCAGGCGCTGATGGAGAGATTCTTCAGGTAGGGGGTCCTCTGTAGCCTTGCCTGGCACCTGGAGCCTGGCCCTGTCTCTGTCTGGGGCCCACCCGGGCTGGGTCTCAGGATGCCCGATGAGCAGGGCCCTCCCCTCTGCCTCTGGAGAGCCCTGGCTCTGGGTGAGCAGGTGCTAGCTTGCTTTCCAGTCCAGCAGGACAGGTCCTCTCATGACGCCACTGGGCTCCCTCTTTTCGGGGGTCGTCTGGAGAGATGCTCCCTGGGAAGCAGAGCTCTGTGCCCTGTGTGCCTGGCCGCGGGAGGACCCAGAGTCGGGCTGGCCTGCGCCAGGCAGACGGGCTGGTGTGGGGCTGTGGCCGGGCACTCCCCACCCGCCCCAGCAGGCTGCCGTCCCGCAGGAGCGAGTCCCGAGGCGCCGTGCGCATCAAGGTGCTGGACGTGCTGTCCTTTGTGCTGCTCATCAACAGGCAGTTCTATGAGGTGCGTGTCCAGGCGGCCGCAGCTGGGGGCTCAGGGCTATTTCTCCGTGGGCGGGCTGTCTCTGTTGTGCACGTGCTCCCGCAGAGCCGGGCTCTGCCTGGGACTTCGGTCCTGCCGGACCCTCTGCAGCCCCCAGCGTGGTCTGTTTACCCCTGTTCATTCACTGGCTTGCTCGTCCTGGGTGCCTCTGCCAGGCCTTGACACGTGGCCAAGTAGCAAGGAAGGCACAGTGCCTGCCCTCAGGGAGCTCCGGCCGGTTTTCACCCAACACAGGAGCCTCTTAAAAATTCTGTGTGAGTTCGTTTCAGCCAGTCTTGCATGGGGACATTGTCTTCCGTTTCAGTCCTGACGTTCACCCTGTGCACCTGCGTGATCGCCAGCCCTGCCTGGTCTCTCCTCTGCGGGCTCTCCCTCTCCACTCCCTCCTCTGGGAGCTCTGTGGCCCCAGGCCCACCTTCCTTGAGAGACATTTGTGTGCCTGCCAGTCATACCCCTTTCCCAGGAGGCGCAGCTTAGGCTCTGAGGCTGTCCCTTCCCACCGAACTCCTCCCTGCAGCCTCGCAGTCCTGCCCTCCTGAGAGCTGCCCACTCTGCTCCTCTCCCCAGCGTCCACTGTCCTTGAATTGCCCTTTGCTGGGCATTGCGATCCCGCATTCTGTCTGAGGGAGCTAAGGGCCTCCTGGAAGTTCCTCTGGGTCCTCTGGCTTCTCCCATCAGGGCTGGTCTTGTCCTGGTCTCTGTTCCTGTGGAACTTTTTACCTGCTTCTGTGAAAACTCACGCTGTCCTCAGCACAGCACGCACACACACGCATATTCACGCATGCACAGGCACACACGTGCACATGCCCACGCGTGCACACAGCCACACACACCCTCACGCACACACGCACAGCACCATGTGGGAGGGGTTCTCGGCTGTGACAGTGAAGGGCAGGGCCTCACCTCGGCTGCTCCTTGTGAGTTGTGGGCCCCGTGTCTGTGCCCGGCCGCCCTGCGGTGC 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GCCCAAAGGCTTTATTCTCAAGCAAACCTTACATCTTGCGAGTTTCACCTTCTGGAGTTGGCAGTGGAGGGGTGAACGCTGCCTCGGGGGTAGCCGTTCTCTTGCTGTTGGCGGCTCTGTTTTGTCAAGTGCTGGTCTTGTCCTGTCTCTGCAATGACGCCGTGGCACAGACGCTGGTGGTACAGCTTCAGTTTCCGCAGTGCCCCGTGATGACAGCGCTTTTTGTGTCCGTCCTCGTTCTGTGCTCACAGCTCCCTGGAGGGTGGGGCGATCACGTCGTCCTGGTTTTATAGTGATGAGCTGCGGTGTGGGTCACAGGGCTCTCCTGATCCTCTGCTCTTCCTGCTACCCCCCTCCCCGTAGGGGCGGTGGGGGGATGTTGTCTTTGTGCACAGCTTGCAGCCGAACTCAGGGCAGCTTTCAGTTGCTGCTGGGCTGGCCCACCGGGTGCCCAGGATTCAGTTGCTGGTCTGTCCGAGTCAGGGACTTTGCAGGCAGGCATGGGGGTGGGGCCCGTCTGGGTCCTGACTGTGCTGGAGCATGTAGAAACCCCTCCTGGGCGCCCCACCTGCTGTTTCTGCGGCCCCTGATAAACGTGTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGGTGGGGTGGGGGCAGGAGCTCCGGGGAGCACCGGGAACCCAGACAGGCAGGCTCGGCCCACTCAGAAGATGGTACCTTGGGCCCCATCTCTGGGGGTCCCGCAGAGACTGCCAGAACCGTGTTCTCTGGTGATTCGCAGTGGCGCTCATCCACCTTCCACCGGAGACAGGTCTGATTTTTCCAGACGTGGTGCATCGTTTAGGCCCCAGACAGGAATATGCAGTAGGTGAGCCGGGGCTGGGCCAGTGCTGTCCACAGTCCGCAGAGTGACCTGCAGGCCGCCTTCGTGGCCTGAGTGGGCCCCGGCACAGTTCCCAGAGGGATGCCAGTGTGGCTTCCGCATGACTTTGGAGGACCGCATTAGTCGAGTCTGTTAACCACAGCTTTAAGGAGGACTCCACGGCCACACGGGCTCATCAGCATAGGGGCCCTGGGGAGGCGAGGCTAGTATCCAGCAGCCTCAGGGCTGTGCCTTTTCCTGGAGCCTGGGGCGGGTGATGTACAGGAGGCCAGGCAGCAGAAGGGAGGCCGGGACTTCGCCGGGACTTAGCAGGGACTGAAGTCCTCTCAGAGCCTGTCGCTGGGCCAGAGCATTGCCCCCGACCGCTGGTGGCAGTGGCAGAGGTCATAGCCTGGGGCTTCTAAAAGAGGCTGGACCTGGGAGAGGCAAGAAAGGCTTGTAGTTGTGGCTACTCTTGGCCCTCCTGCCCGAGCTTCCTTCTTGGCCCAGCTGCATGGGCACAGCCAAGATTCCTTGGGGGGTGGGGTACGGGCAGGAACAGCAGCTGCCATCACAGCCACTGTGGCCCCTTGAGAGGATCTGGGGGGTGTCCTGGGCCACGTGGGTCAGGGTGGCCCCTGGAGAGGATCTGGGGGTGTCTCAACCCATGAGGCCCGGAGCGGCCTCAGAGGGCTGGGGGCGTCTGTCCCCATGCGGCCCAGAGCGGCCTGAGAGGGCTGAGGGTGTCTCCATGCGGTGGGTGTGTAGCGAGGCCTCTGGTGCCAAGTCCATGTGGGGAGTGGAAGTCAGCCTGTGTCATCGTGCCTGGTACTGCAGACCTTGGACAGCCCGGAGCTCAGGACCATCGTCCATGACCTGTTGACCACGGTGGAGGAGCTGTGTGACCAGAACGAGTTCCACGGGTCTCAGGAGAGATACTTTGAACTGGTGGAGAGATGTGCGGACCAGAGGTCTGTGAGACCCCCTCCTGGGTGGGGCCTTTGGGCTTTGGCTGGTGGGGAGGGGCCGGGTGCTGGGTGAAGTGCAGCTTTCTGAGCCTCAGAAGCCAAGGGCCAGGTGGGCGCCTGCTTTCCAGGTTTCTGCACTCGGCAGGGAAGGCTGGCAGGCACAGCACGTGTTTGGTAACAAGCTCGGGGCTAGCCCACCCATCAGTTTCCTCCCACCTGTGTGGAGCAAGCTTCCATCCGGCTCTGTAGAGTCCTGTGGCTCCCAGGCGGCCGCAGTCATTTTGCCAGGAACACTCAGCTTAGGGCCCAGGCTTTTCCATGGGTTTGGACACAAGTCTTCCCCGCTGCCAGGAGTGCCTTTGTGTCTGGGCTGTGGGCTGCAGGCTGTGAGGCGGCTGGGCTCTGACAGCAAACCAGCCTCTCGACCAGCAGCCCAGTGTGGAGAAGGAGAGCGCCGGAGGGGCAGAGGGGCAACACCGGCTCTTCTTTTGACAGGAGTCCTCCCTCCTGAACCTGATCTCCTATAGAGCGCAGTCCATCCACCCGGCCAAGGACGGCTGGATTCAGAACCTGCAGGCGCTGATGGAGAGATTCTTCAGGTAGGGGGTCCTCTGTAGCCTTGCCTGGCACCTGGAGCCTGGCCCTGTCTCTGTCTGGGGCCCACCCGGGCTGGGTCTCAGGATGCCCGATGAGCAGGGCCCTCCCCTCTGCCTCTGGAGAGCCCTGGCTCTGGGTGAGCAGGTGCTAGCTTGCTTTCCAGTCCAGCAGGACAGGTCCTCTCATGACGCCACTGGGCTCCCTCTTTTCGGGGGTCGTCTGGAGAGATGCTCCCTGGGAAGCAGAGCTCTGTGCCCTGTGTGCCTGGCCGCGGGAGGACCCAGAGTCGGGCTGGCCTGCGCCAGGCAGACGGGCTGGTGTGGGGCTGTGGCCGGGCACTCCCCACCCGCCCCAGCAGGCTGCCGTCCCGCAGGAGCGAGTCCCGAGGCGCCGTGCGCATCAAGGTGCTGGACGTGCTGTCCTTTGTGCTGCTCATCAACAGGCAGTTCTATGAGGTGCGTGTCCAGGCGGCCGCAGCTGGGGGCTCAGGGCTATTTCTCCGTGGGCGGGCTGTCTCTGTTGTGCACGTGCTCCCGCAGAGCCGGGCTCTGCCTGGGACTTCGGTCCTGCCGGACCCTCTGCAGCCCCCAGCGTGGTCTGTTTACCCCTGTTCATTCACTGGCTTGCTCGTCCTGGGTGCCTCTGCCAGGCCTTGACACGTGGCCAAGTAGCAAGGAAGGCACAGTGCCTGCCCTCAGGGAGCTCCGGCCGGTTTTCACCCAACACAGGAGCCTCTTAAAAATTCTGTGTGAGTTCGTTTCAGCCAGTCTTGCATGGGGACATTGTCTTCCGTTTCAGTCCTGACGTTCACCCTGTGCACCTGCGTGATCGCCAGCCCTGCCTGGTCTCTCCTCTGCGGGCTCTCCCTCTCCACTCCCTCCTCTGGGAGCTCTGTGGCCCCAGGCCCACCTTCCTTGAGAGACATTTGTGTGCCTGCCAGTCATACCCCTTTCCCAGGAGGCGCAGCTTAGGCTCTGAGGCTGTCCCTTCCCACCGAACTCCTCCCTGCAGCCTCGCAGTCCTGCCCTCCTGAGAGCTGCCCACTCTGCTCCTCTCCCCAGCGTCCACTGTCCTTGAATTGCCCTTTGCTGGGCATTGCGATCCCGCATTCTGTCTGAGGGAGCTAAGGGCCTCCTGGAAGTTCCTCTGGGTCCTCTGGCTTCTCCCATCAGGGCTGGTCTTGTCCTGGTCTCTGTTCCTGTGGAACTTTTTACCTGCTTCTGTGAAAACTCACGCTGTCCTCAGCACAGCACGCACACACACGCATATTCACGCATGCACAGGCACACACGTGCACATGCCCACGCGTGCACACAGCCACACACACCCTCACGCACACACGCACAGCACCATGTGGGAGGGGTTCTCGGCTGTGACAGTGAAGGGCAGGGCCTCACCTCGGCTGCTCCTTGTGAGTTGTGGGCCCCGTGTCTGTGCCCGGCCGCCCTGCGGTGC 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Task1_train_22083 | Consider this mutation in TSC2 (TSC complex subunit 2) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Lymphangiomyomatosis | TTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCC 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TTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCTACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCC 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Task1_train_22084 | An alteration has been detected in TSC2 (TSC complex subunit 2) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Tuberous sclerosis 2 | TTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCC 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TTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCTACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCC 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Task1_train_22085 | A mutation on Chromosome 16 affecting TSC2 (TSC complex subunit 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Isolated focal cortical dysplasia type II | TTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCC 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TTGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCTACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCC 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Task1_train_22086 | A variant affecting Chromosome 16, within the gene TSC2 (TSC complex subunit 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Tuberous sclerosis 2 | TGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCC 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TGACTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCGCTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCC 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Task1_train_22087 | This alteration in TSC2 (TSC complex subunit 2) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | CTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGC 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CTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTGCAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGC 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Task1_train_22088 | This sequence change occurs on Chromosome 16, altering TSC2 (TSC complex subunit 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Tuberous sclerosis 2 | CTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGC 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CTAGAAGCCTTGCTGATAGCAGACAGTCTATTAATGTACAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTGCAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGC 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Task1_train_22089 | A variant found in Chromosome 16 affects TSC2 (TSC complex subunit 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Tuberous sclerosis syndrome | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGT 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CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCGGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGT 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Task1_train_22090 | A genetic alteration is present in TSC2 (TSC complex subunit 2) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Tuberous sclerosis 2 | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGT 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CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCGGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGT 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Task1_train_22091 | The gene TSC2 (TSC complex subunit 2) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Tuberous sclerosis 2 | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGT 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CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCTGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGT 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Task1_train_22092 | The gene TSC2 (TSC complex subunit 2) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hereditary cancer-predisposing syndrome | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGT 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CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCTGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGT 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Task1_train_22093 | This alteration occurs within gene TSC2 (TSC complex subunit 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Lymphangiomyomatosis | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGT 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CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCTGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGT 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Task1_train_22094 | A mutation found in TSC2 (TSC complex subunit 2) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Tuberous sclerosis 2 | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGT 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CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCTGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGT 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Task1_train_22095 | This sequence variant lies in TSC2 (TSC complex subunit 2) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Isolated focal cortical dysplasia type II | CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGT 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CAGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCTGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGT 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Task1_train_22096 | This alteration occurs within gene TSC2 (TSC complex subunit 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Tuberous sclerosis 2 | AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTG 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AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCAGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTG 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Task1_train_22097 | This is a variant in TSC2 (TSC complex subunit 2), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary cancer-predisposing syndrome | AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTG 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AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCAGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTG 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Task1_train_22098 | Here is a genetic alteration in TSC2 (TSC complex subunit 2) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Tuberous sclerosis 2 | AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTG 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AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCAGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTG 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Task1_train_22099 | Given this variant in gene TSC2 (TSC complex subunit 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Isolated focal cortical dysplasia type II | AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTG 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AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCAGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTG 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