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_5400 | Consider this mutation in CPS1 (carbamoyl-phosphate synthase 1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Pulmonary hypertension, neonatal, susceptibility to | GGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTGGGAGGATTTAAAAAAGGAATAGATTATAGATAATTGAGATACATTGTCTGCAGTTGGTAAATTCAGAATACCTAAACTGACCCGAATAGACAATGAATTATTAATCTCTGGTAAATATTAAAAGATAGTACTTATATATAGATGCTATGAGAATATAGTAGAATAGGGTTGAGGAAGCCCATTATAGTCATTCCACTGGAAAATGTGAAATAGTCACTCAAGGAAGGTGCATTTTAATAGTATAGGGCAAATGTGGTGGGAGGACGACTTGAGCCCAGGGGGTCCAGTCTGTAGTGAGCCCTATAGTGCCGCTACACTCCAGCCTGGGTAACAGAGTGAGAACCTGTTTCAAAAAGCAAAAATATATAGAGAGAGTATTGAAAAGCACAATTTTTGAGCAAACATTTATAGATACATATTCCTTTGTTATACACGTTTTTTTTTTAATTGAATGGATCCCATGTACCATTATATAGATTGTGCTTAAGAATAATAAAAATATATGGAGAGTTACTTATAGAACTAATTTCAGATAAATTTTAAATATGTAATACTTCAAATTTTCTTAAATATACCCAAAATATTTCCTTAATTTTACAGAACAATAAAATGTCTGATTTCTGGCAGTCTTTTCCATGCCCAGGCTAGACAATCTATAAACATATTGTCTAACTCTTCAAGATACCACTATGACTTGCAAATTGCATATCTGAATTGCATTAACAGGTTGTTTATTCCTGCTCTTGTAAATTTTCCCTTATTTCTAATTAAATTTGGAACAGTGTGAAAAGGTTATCTGTTTGGCTTTAGTGATCATTGAATATGTATCTTGTCACATAATTGACATGAAGATTTCCTAAACTGACATTAGTGGTAATTTGAGTCTATTTGAGGAATCACAAAAGTTTACTGAAAATAGCATTATGACTGCTATTATTTTAAATTGGAGACCAAAAATGCATAGCAATCTATTATTCTATGAAAAGATTCAAACAATGTTTATCCAGCGAAAATAACTGGGTAGGTTGCAAGATCAATTTAAGTTTAGTTCTGACATGCAACTTGTCCAAACTAAATCACCACATAATTTTTCTAATTGATTAGTGTATGATGAGCTGTAAAGATTGTGGAAAGACACATTGAATTTGTCACAGAAAGTTTAGTCTCCTCCTACGTTCAAAATCATAATCATCAGTATTTGTTATGACTCTCAAGGTTCTATTAATATTAATGCTTAGCTGTAAGGAAAGCCAACCTGTCTTGAATACTGACTGATACTCATTTACAAATAGTTTCTGTTTCAGTGTTAATATATTTCTGGTTTCTTTTTATTTGCCTTCCATTCTAAAGAACATGCGCATAAAGCAAGATCTTACTAAGAAAAGGTCTCTATGCTTCAACCTTGAATTTCTTATTTTAATACTATGGTCCAGAGCAGGTACAGGTGATTTCCTCATCAATCTCAGCAAATACAGCTGAACTCCCTGAGTGGTAAAAGACTGACCTAATGAAGATGCATTATACCAAAACCATGGAGAAAGTGAGAGAGGAAGAAAAAAAGGAACACCTTTTTTTTTTTTTAATTTGAGAGGCTTTATGATATATTTTTTGTTCTTATTTGTTTTATAAAATATATTTTACGTCCAGTTCAGTTACAAATTAAAGATACATAAGCTCTTTCTTTCAATATGAGGTCTTAAACATGTATTACAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCCCGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCCAAGGTAAGATGTTACAAGGGGCCCACAGCTACTAGTTGCTTTTCCAGAATGTAGTCAGTCTGGACATTAAAATAAAACTGAATCACAAAGTGGTTTTAAATCAGGGATTTTTGGAAAATTTTTAATTCTTTTATAGTATTAAACTGGAAACATCTATAGATTTCATTAGAGTCTTTTACAATTAATGATAAATTATCATTTTTATTTGACTTTAAGCCTGGATTTAAGGGCAAATTGCAGTTTTAAAGGATGATTAAATAGATAAAATGTCCCCCTTTTTAAGTATACTTAGTACTAATACTCAAGTAGATTTGACTATATTGACTTGTCCTTTACTATTAACTTTATTACATGTTCCTTGAATGTGTAAAATTGTATTGTAGAAAGGAAGGTGCATACAATAATGTCCCTTAGTATGTGCCACTTGAGTCTAGAATAATCTTAATTTATTTGCTTCTCTTTCTGTGTTTAAAAAACAGCAACAGACTATAAAGGCCCACATGATTATAGGGTTTTCCATGTAATTATTTTATTGGTCTTACTTTCAGGAAAAAAGGCCCTACATTTCTCACTTCCCTCCACTACTTGCTTCTCATGCAAATTAAATGCCATGTTAATCTACTTTTATATTTACTGTGCTTAGAGTTTTGAAGTTTCAGCTCATCTGATTTTATAAAAGGTGACTTGGGCAGCTGGAATCTGTCTGGTCAGAAATCCCTGAAAGGCTTTTTGACATTTAAGGAAGCACAAGCGTTAATCCTCCAACAGTATCAAACCGCACTGGTTCTACAAAGCTCTACTGACCATTTTATGTTTGTGTGTGTGTATGTGTGTGCATGTGGGATGAGTCGGTGAAAACATGAACTTTCTCTTTAAAAGGATTCCCGTCTTTGTAATTTGCCTGTGTAGAAACAGAAAAATGTTGTTAGTGATTTTGAACTCATCGCAACTTTTATGTCCATATTTTGAGTCCTTAAGAGACCTGAAGGAGAGGAAGGGATATTTCCTTAATTGCATCCAATGTATATTCTCCTCGCTCTTATGGTTTCTAAATGGAAAATATTTAAGCCCTACTGAAATTCTGGGAGTTGCTATTATCTCTTGATGGACATTTTCCCATGTTGAGTTTCAAGGTAATTAGAATTTTTCTCTGGCGGTGGCGGGTGGGATAGCAGTGATAAGAAGTTATTTTAGAAAGCCATTTCACCTTCATCATTTATTATCCCTATTTCAGTCTTTTATTTAAGAAGCAGCTCATGACATTCATATGTGTGTGTGTGTGTGTATATATATATATAAAATTTTTTTCTCAGGCAAAGGACAGTAAATAGATTTTTTCCTTAAGTCTAGCAATCATGTTTCTGCCACTTTGAAGGAGATGAAAAAGGCAAGCATTTCCAAGTTCCCAGCTAAGCTGTAAAACTCAAGCAAATCTCTCATTCTTTTCTAACAGACTTATAAAAGATGAGAATCTGGGAAAAATGTGTGGAGGTTCTTTCTTTCACAGGGTACCCTATGTATGAGCAAGAAGTGCAGGGGCTGCGTGTAAATTATTGCCTGCTCGAGTGCTGGGAGAAGGAACTGATTTCTGTTTGTTAGAGGTCATCATTACTGTTCATTTCAACAGCAGCCGGGAACTTGGTGATTTTGACAGAGAGTGTAAGGACGGTGGAGGGCTGAAGGGGAAAAAGAATGAAGGGAGTGTGTAAATCTTTGCTTGCTTTCATGAGTCTTAGAAAGAGCAACTTGCTCTGAGGTCTGATTTTTACAGCAGTCTTATTTCAGGATGACTGGATCATCACCTCTTTTGATTTGGGGAGAATGCGGGGCATTATTTTTGATTTTTGGAACATTAAAGTAACCTCAAACTTGTTTGGGGGTCATTATAGACTTCATTACAGTGATGTTACATAGCAAAGCTGCAGTGCTTGGAGATGAGGTCTTAAGACTGGCAGGATCTTGCTTGCTGTTGAGAAATCATGGATTTTTTTTTTTATCCAGTCTATCATTGATGGGCGTTTGGGTTGGTTC | GGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTGGGAGGATTTAAAAAAGGAATAGATTATAGATAATTGAGATACATTGTCTGCAGTTGGTAAATTCAGAATACCTAAACTGACCCGAATAGACAATGAATTATTAATCTCTGGTAAATATTAAAAGATAGTACTTATATATAGATGCTATGAGAATATAGTAGAATAGGGTTGAGGAAGCCCATTATAGTCATTCCACTGGAAAATGTGAAATAGTCACTCAAGGAAGGTGCATTTTAATAGTATAGGGCAAATGTGGTGGGAGGACGACTTGAGCCCAGGGGGTCCAGTCTGTAGTGAGCCCTATAGTGCCGCTACACTCCAGCCTGGGTAACAGAGTGAGAACCTGTTTCAAAAAGCAAAAATATATAGAGAGAGTATTGAAAAGCACAATTTTTGAGCAAACATTTATAGATACATATTCCTTTGTTATACACGTTTTTTTTTTAATTGAATGGATCCCATGTACCATTATATAGATTGTGCTTAAGAATAATAAAAATATATGGAGAGTTACTTATAGAACTAATTTCAGATAAATTTTAAATATGTAATACTTCAAATTTTCTTAAATATACCCAAAATATTTCCTTAATTTTACAGAACAATAAAATGTCTGATTTCTGGCAGTCTTTTCCATGCCCAGGCTAGACAATCTATAAACATATTGTCTAACTCTTCAAGATACCACTATGACTTGCAAATTGCATATCTGAATTGCATTAACAGGTTGTTTATTCCTGCTCTTGTAAATTTTCCCTTATTTCTAATTAAATTTGGAACAGTGTGAAAAGGTTATCTGTTTGGCTTTAGTGATCATTGAATATGTATCTTGTCACATAATTGACATGAAGATTTCCTAAACTGACATTAGTGGTAATTTGAGTCTATTTGAGGAATCACAAAAGTTTACTGAAAATAGCATTATGACTGCTATTATTTTAAATTGGAGACCAAAAATGCATAGCAATCTATTATTCTATGAAAAGATTCAAACAATGTTTATCCAGCGAAAATAACTGGGTAGGTTGCAAGATCAATTTAAGTTTAGTTCTGACATGCAACTTGTCCAAACTAAATCACCACATAATTTTTCTAATTGATTAGTGTATGATGAGCTGTAAAGATTGTGGAAAGACACATTGAATTTGTCACAGAAAGTTTAGTCTCCTCCTACGTTCAAAATCATAATCATCAGTATTTGTTATGACTCTCAAGGTTCTATTAATATTAATGCTTAGCTGTAAGGAAAGCCAACCTGTCTTGAATACTGACTGATACTCATTTACAAATAGTTTCTGTTTCAGTGTTAATATATTTCTGGTTTCTTTTTATTTGCCTTCCATTCTAAAGAACATGCGCATAAAGCAAGATCTTACTAAGAAAAGGTCTCTATGCTTCAACCTTGAATTTCTTATTTTAATACTATGGTCCAGAGCAGGTACAGGTGATTTCCTCATCAATCTCAGCAAATACAGCTGAACTCCCTGAGTGGTAAAAGACTGACCTAATGAAGATGCATTATACCAAAACCATGGAGAAAGTGAGAGAGGAAGAAAAAAAGGAACACCTTTTTTTTTTTTTAATTTGAGAGGCTTTATGATATATTTTTTGTTCTTATTTGTTTTATAAAATATATTTTACGTCCAGTTCAGTTACAAATTAAAGATACATAAGCTCTTTCTTTCAATATGAGGTCTTAAACATGTATTACAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCCCGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCATATCTATGCCATTGCCAAGGTAAGATGTTACAAGGGGCCCACAGCTACTAGTTGCTTTTCCAGAATGTAGTCAGTCTGGACATTAAAATAAAACTGAATCACAAAGTGGTTTTAAATCAGGGATTTTTGGAAAATTTTTAATTCTTTTATAGTATTAAACTGGAAACATCTATAGATTTCATTAGAGTCTTTTACAATTAATGATAAATTATCATTTTTATTTGACTTTAAGCCTGGATTTAAGGGCAAATTGCAGTTTTAAAGGATGATTAAATAGATAAAATGTCCCCCTTTTTAAGTATACTTAGTACTAATACTCAAGTAGATTTGACTATATTGACTTGTCCTTTACTATTAACTTTATTACATGTTCCTTGAATGTGTAAAATTGTATTGTAGAAAGGAAGGTGCATACAATAATGTCCCTTAGTATGTGCCACTTGAGTCTAGAATAATCTTAATTTATTTGCTTCTCTTTCTGTGTTTAAAAAACAGCAACAGACTATAAAGGCCCACATGATTATAGGGTTTTCCATGTAATTATTTTATTGGTCTTACTTTCAGGAAAAAAGGCCCTACATTTCTCACTTCCCTCCACTACTTGCTTCTCATGCAAATTAAATGCCATGTTAATCTACTTTTATATTTACTGTGCTTAGAGTTTTGAAGTTTCAGCTCATCTGATTTTATAAAAGGTGACTTGGGCAGCTGGAATCTGTCTGGTCAGAAATCCCTGAAAGGCTTTTTGACATTTAAGGAAGCACAAGCGTTAATCCTCCAACAGTATCAAACCGCACTGGTTCTACAAAGCTCTACTGACCATTTTATGTTTGTGTGTGTGTATGTGTGTGCATGTGGGATGAGTCGGTGAAAACATGAACTTTCTCTTTAAAAGGATTCCCGTCTTTGTAATTTGCCTGTGTAGAAACAGAAAAATGTTGTTAGTGATTTTGAACTCATCGCAACTTTTATGTCCATATTTTGAGTCCTTAAGAGACCTGAAGGAGAGGAAGGGATATTTCCTTAATTGCATCCAATGTATATTCTCCTCGCTCTTATGGTTTCTAAATGGAAAATATTTAAGCCCTACTGAAATTCTGGGAGTTGCTATTATCTCTTGATGGACATTTTCCCATGTTGAGTTTCAAGGTAATTAGAATTTTTCTCTGGCGGTGGCGGGTGGGATAGCAGTGATAAGAAGTTATTTTAGAAAGCCATTTCACCTTCATCATTTATTATCCCTATTTCAGTCTTTTATTTAAGAAGCAGCTCATGACATTCATATGTGTGTGTGTGTGTGTATATATATATATAAAATTTTTTTCTCAGGCAAAGGACAGTAAATAGATTTTTTCCTTAAGTCTAGCAATCATGTTTCTGCCACTTTGAAGGAGATGAAAAAGGCAAGCATTTCCAAGTTCCCAGCTAAGCTGTAAAACTCAAGCAAATCTCTCATTCTTTTCTAACAGACTTATAAAAGATGAGAATCTGGGAAAAATGTGTGGAGGTTCTTTCTTTCACAGGGTACCCTATGTATGAGCAAGAAGTGCAGGGGCTGCGTGTAAATTATTGCCTGCTCGAGTGCTGGGAGAAGGAACTGATTTCTGTTTGTTAGAGGTCATCATTACTGTTCATTTCAACAGCAGCCGGGAACTTGGTGATTTTGACAGAGAGTGTAAGGACGGTGGAGGGCTGAAGGGGAAAAAGAATGAAGGGAGTGTGTAAATCTTTGCTTGCTTTCATGAGTCTTAGAAAGAGCAACTTGCTCTGAGGTCTGATTTTTACAGCAGTCTTATTTCAGGATGACTGGATCATCACCTCTTTTGATTTGGGGAGAATGCGGGGCATTATTTTTGATTTTTGGAACATTAAAGTAACCTCAAACTTGTTTGGGGGTCATTATAGACTTCATTACAGTGATGTTACATAGCAAAGCTGCAGTGCTTGGAGATGAGGTCTTAAGACTGGCAGGATCTTGCTTGCTGTTGAGAAATCATGGATTTTTTTTTTTATCCAGTCTATCATTGATGGGCGTTTGGGTTGGTTC |
Task1_train_5401 | This sequence change occurs on Chromosome 2, altering CPS1 (carbamoyl-phosphate synthase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Congenital hyperammonemia, type I | GGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTGGGAGGATTTAAAAAAGGAATAGATTATAGATAATTGAGATACATTGTCTGCAGTTGGTAAATTCAGAATACCTAAACTGACCCGAATAGACAATGAATTATTAATCTCTGGTAAATATTAAAAGATAGTACTTATATATAGATGCTATGAGAATATAGTAGAATAGGGTTGAGGAAGCCCATTATAGTCATTCCACTGGAAAATGTGAAATAGTCACTCAAGGAAGGTGCATTTTAATAGTATAGGGCAAATGTGGTGGGAGGACGACTTGAGCCCAGGGGGTCCAGTCTGTAGTGAGCCCTATAGTGCCGCTACACTCCAGCCTGGGTAACAGAGTGAGAACCTGTTTCAAAAAGCAAAAATATATAGAGAGAGTATTGAAAAGCACAATTTTTGAGCAAACATTTATAGATACATATTCCTTTGTTATACACGTTTTTTTTTTAATTGAATGGATCCCATGTACCATTATATAGATTGTGCTTAAGAATAATAAAAATATATGGAGAGTTACTTATAGAACTAATTTCAGATAAATTTTAAATATGTAATACTTCAAATTTTCTTAAATATACCCAAAATATTTCCTTAATTTTACAGAACAATAAAATGTCTGATTTCTGGCAGTCTTTTCCATGCCCAGGCTAGACAATCTATAAACATATTGTCTAACTCTTCAAGATACCACTATGACTTGCAAATTGCATATCTGAATTGCATTAACAGGTTGTTTATTCCTGCTCTTGTAAATTTTCCCTTATTTCTAATTAAATTTGGAACAGTGTGAAAAGGTTATCTGTTTGGCTTTAGTGATCATTGAATATGTATCTTGTCACATAATTGACATGAAGATTTCCTAAACTGACATTAGTGGTAATTTGAGTCTATTTGAGGAATCACAAAAGTTTACTGAAAATAGCATTATGACTGCTATTATTTTAAATTGGAGACCAAAAATGCATAGCAATCTATTATTCTATGAAAAGATTCAAACAATGTTTATCCAGCGAAAATAACTGGGTAGGTTGCAAGATCAATTTAAGTTTAGTTCTGACATGCAACTTGTCCAAACTAAATCACCACATAATTTTTCTAATTGATTAGTGTATGATGAGCTGTAAAGATTGTGGAAAGACACATTGAATTTGTCACAGAAAGTTTAGTCTCCTCCTACGTTCAAAATCATAATCATCAGTATTTGTTATGACTCTCAAGGTTCTATTAATATTAATGCTTAGCTGTAAGGAAAGCCAACCTGTCTTGAATACTGACTGATACTCATTTACAAATAGTTTCTGTTTCAGTGTTAATATATTTCTGGTTTCTTTTTATTTGCCTTCCATTCTAAAGAACATGCGCATAAAGCAAGATCTTACTAAGAAAAGGTCTCTATGCTTCAACCTTGAATTTCTTATTTTAATACTATGGTCCAGAGCAGGTACAGGTGATTTCCTCATCAATCTCAGCAAATACAGCTGAACTCCCTGAGTGGTAAAAGACTGACCTAATGAAGATGCATTATACCAAAACCATGGAGAAAGTGAGAGAGGAAGAAAAAAAGGAACACCTTTTTTTTTTTTTAATTTGAGAGGCTTTATGATATATTTTTTGTTCTTATTTGTTTTATAAAATATATTTTACGTCCAGTTCAGTTACAAATTAAAGATACATAAGCTCTTTCTTTCAATATGAGGTCTTAAACATGTATTACAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCCCGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCCAAGGTAAGATGTTACAAGGGGCCCACAGCTACTAGTTGCTTTTCCAGAATGTAGTCAGTCTGGACATTAAAATAAAACTGAATCACAAAGTGGTTTTAAATCAGGGATTTTTGGAAAATTTTTAATTCTTTTATAGTATTAAACTGGAAACATCTATAGATTTCATTAGAGTCTTTTACAATTAATGATAAATTATCATTTTTATTTGACTTTAAGCCTGGATTTAAGGGCAAATTGCAGTTTTAAAGGATGATTAAATAGATAAAATGTCCCCCTTTTTAAGTATACTTAGTACTAATACTCAAGTAGATTTGACTATATTGACTTGTCCTTTACTATTAACTTTATTACATGTTCCTTGAATGTGTAAAATTGTATTGTAGAAAGGAAGGTGCATACAATAATGTCCCTTAGTATGTGCCACTTGAGTCTAGAATAATCTTAATTTATTTGCTTCTCTTTCTGTGTTTAAAAAACAGCAACAGACTATAAAGGCCCACATGATTATAGGGTTTTCCATGTAATTATTTTATTGGTCTTACTTTCAGGAAAAAAGGCCCTACATTTCTCACTTCCCTCCACTACTTGCTTCTCATGCAAATTAAATGCCATGTTAATCTACTTTTATATTTACTGTGCTTAGAGTTTTGAAGTTTCAGCTCATCTGATTTTATAAAAGGTGACTTGGGCAGCTGGAATCTGTCTGGTCAGAAATCCCTGAAAGGCTTTTTGACATTTAAGGAAGCACAAGCGTTAATCCTCCAACAGTATCAAACCGCACTGGTTCTACAAAGCTCTACTGACCATTTTATGTTTGTGTGTGTGTATGTGTGTGCATGTGGGATGAGTCGGTGAAAACATGAACTTTCTCTTTAAAAGGATTCCCGTCTTTGTAATTTGCCTGTGTAGAAACAGAAAAATGTTGTTAGTGATTTTGAACTCATCGCAACTTTTATGTCCATATTTTGAGTCCTTAAGAGACCTGAAGGAGAGGAAGGGATATTTCCTTAATTGCATCCAATGTATATTCTCCTCGCTCTTATGGTTTCTAAATGGAAAATATTTAAGCCCTACTGAAATTCTGGGAGTTGCTATTATCTCTTGATGGACATTTTCCCATGTTGAGTTTCAAGGTAATTAGAATTTTTCTCTGGCGGTGGCGGGTGGGATAGCAGTGATAAGAAGTTATTTTAGAAAGCCATTTCACCTTCATCATTTATTATCCCTATTTCAGTCTTTTATTTAAGAAGCAGCTCATGACATTCATATGTGTGTGTGTGTGTGTATATATATATATAAAATTTTTTTCTCAGGCAAAGGACAGTAAATAGATTTTTTCCTTAAGTCTAGCAATCATGTTTCTGCCACTTTGAAGGAGATGAAAAAGGCAAGCATTTCCAAGTTCCCAGCTAAGCTGTAAAACTCAAGCAAATCTCTCATTCTTTTCTAACAGACTTATAAAAGATGAGAATCTGGGAAAAATGTGTGGAGGTTCTTTCTTTCACAGGGTACCCTATGTATGAGCAAGAAGTGCAGGGGCTGCGTGTAAATTATTGCCTGCTCGAGTGCTGGGAGAAGGAACTGATTTCTGTTTGTTAGAGGTCATCATTACTGTTCATTTCAACAGCAGCCGGGAACTTGGTGATTTTGACAGAGAGTGTAAGGACGGTGGAGGGCTGAAGGGGAAAAAGAATGAAGGGAGTGTGTAAATCTTTGCTTGCTTTCATGAGTCTTAGAAAGAGCAACTTGCTCTGAGGTCTGATTTTTACAGCAGTCTTATTTCAGGATGACTGGATCATCACCTCTTTTGATTTGGGGAGAATGCGGGGCATTATTTTTGATTTTTGGAACATTAAAGTAACCTCAAACTTGTTTGGGGGTCATTATAGACTTCATTACAGTGATGTTACATAGCAAAGCTGCAGTGCTTGGAGATGAGGTCTTAAGACTGGCAGGATCTTGCTTGCTGTTGAGAAATCATGGATTTTTTTTTTTATCCAGTCTATCATTGATGGGCGTTTGGGTTGGTTC | GGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTGGGAGGATTTAAAAAAGGAATAGATTATAGATAATTGAGATACATTGTCTGCAGTTGGTAAATTCAGAATACCTAAACTGACCCGAATAGACAATGAATTATTAATCTCTGGTAAATATTAAAAGATAGTACTTATATATAGATGCTATGAGAATATAGTAGAATAGGGTTGAGGAAGCCCATTATAGTCATTCCACTGGAAAATGTGAAATAGTCACTCAAGGAAGGTGCATTTTAATAGTATAGGGCAAATGTGGTGGGAGGACGACTTGAGCCCAGGGGGTCCAGTCTGTAGTGAGCCCTATAGTGCCGCTACACTCCAGCCTGGGTAACAGAGTGAGAACCTGTTTCAAAAAGCAAAAATATATAGAGAGAGTATTGAAAAGCACAATTTTTGAGCAAACATTTATAGATACATATTCCTTTGTTATACACGTTTTTTTTTTAATTGAATGGATCCCATGTACCATTATATAGATTGTGCTTAAGAATAATAAAAATATATGGAGAGTTACTTATAGAACTAATTTCAGATAAATTTTAAATATGTAATACTTCAAATTTTCTTAAATATACCCAAAATATTTCCTTAATTTTACAGAACAATAAAATGTCTGATTTCTGGCAGTCTTTTCCATGCCCAGGCTAGACAATCTATAAACATATTGTCTAACTCTTCAAGATACCACTATGACTTGCAAATTGCATATCTGAATTGCATTAACAGGTTGTTTATTCCTGCTCTTGTAAATTTTCCCTTATTTCTAATTAAATTTGGAACAGTGTGAAAAGGTTATCTGTTTGGCTTTAGTGATCATTGAATATGTATCTTGTCACATAATTGACATGAAGATTTCCTAAACTGACATTAGTGGTAATTTGAGTCTATTTGAGGAATCACAAAAGTTTACTGAAAATAGCATTATGACTGCTATTATTTTAAATTGGAGACCAAAAATGCATAGCAATCTATTATTCTATGAAAAGATTCAAACAATGTTTATCCAGCGAAAATAACTGGGTAGGTTGCAAGATCAATTTAAGTTTAGTTCTGACATGCAACTTGTCCAAACTAAATCACCACATAATTTTTCTAATTGATTAGTGTATGATGAGCTGTAAAGATTGTGGAAAGACACATTGAATTTGTCACAGAAAGTTTAGTCTCCTCCTACGTTCAAAATCATAATCATCAGTATTTGTTATGACTCTCAAGGTTCTATTAATATTAATGCTTAGCTGTAAGGAAAGCCAACCTGTCTTGAATACTGACTGATACTCATTTACAAATAGTTTCTGTTTCAGTGTTAATATATTTCTGGTTTCTTTTTATTTGCCTTCCATTCTAAAGAACATGCGCATAAAGCAAGATCTTACTAAGAAAAGGTCTCTATGCTTCAACCTTGAATTTCTTATTTTAATACTATGGTCCAGAGCAGGTACAGGTGATTTCCTCATCAATCTCAGCAAATACAGCTGAACTCCCTGAGTGGTAAAAGACTGACCTAATGAAGATGCATTATACCAAAACCATGGAGAAAGTGAGAGAGGAAGAAAAAAAGGAACACCTTTTTTTTTTTTTAATTTGAGAGGCTTTATGATATATTTTTTGTTCTTATTTGTTTTATAAAATATATTTTACGTCCAGTTCAGTTACAAATTAAAGATACATAAGCTCTTTCTTTCAATATGAGGTCTTAAACATGTATTACAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCCCGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCATATCTATGCCATTGCCAAGGTAAGATGTTACAAGGGGCCCACAGCTACTAGTTGCTTTTCCAGAATGTAGTCAGTCTGGACATTAAAATAAAACTGAATCACAAAGTGGTTTTAAATCAGGGATTTTTGGAAAATTTTTAATTCTTTTATAGTATTAAACTGGAAACATCTATAGATTTCATTAGAGTCTTTTACAATTAATGATAAATTATCATTTTTATTTGACTTTAAGCCTGGATTTAAGGGCAAATTGCAGTTTTAAAGGATGATTAAATAGATAAAATGTCCCCCTTTTTAAGTATACTTAGTACTAATACTCAAGTAGATTTGACTATATTGACTTGTCCTTTACTATTAACTTTATTACATGTTCCTTGAATGTGTAAAATTGTATTGTAGAAAGGAAGGTGCATACAATAATGTCCCTTAGTATGTGCCACTTGAGTCTAGAATAATCTTAATTTATTTGCTTCTCTTTCTGTGTTTAAAAAACAGCAACAGACTATAAAGGCCCACATGATTATAGGGTTTTCCATGTAATTATTTTATTGGTCTTACTTTCAGGAAAAAAGGCCCTACATTTCTCACTTCCCTCCACTACTTGCTTCTCATGCAAATTAAATGCCATGTTAATCTACTTTTATATTTACTGTGCTTAGAGTTTTGAAGTTTCAGCTCATCTGATTTTATAAAAGGTGACTTGGGCAGCTGGAATCTGTCTGGTCAGAAATCCCTGAAAGGCTTTTTGACATTTAAGGAAGCACAAGCGTTAATCCTCCAACAGTATCAAACCGCACTGGTTCTACAAAGCTCTACTGACCATTTTATGTTTGTGTGTGTGTATGTGTGTGCATGTGGGATGAGTCGGTGAAAACATGAACTTTCTCTTTAAAAGGATTCCCGTCTTTGTAATTTGCCTGTGTAGAAACAGAAAAATGTTGTTAGTGATTTTGAACTCATCGCAACTTTTATGTCCATATTTTGAGTCCTTAAGAGACCTGAAGGAGAGGAAGGGATATTTCCTTAATTGCATCCAATGTATATTCTCCTCGCTCTTATGGTTTCTAAATGGAAAATATTTAAGCCCTACTGAAATTCTGGGAGTTGCTATTATCTCTTGATGGACATTTTCCCATGTTGAGTTTCAAGGTAATTAGAATTTTTCTCTGGCGGTGGCGGGTGGGATAGCAGTGATAAGAAGTTATTTTAGAAAGCCATTTCACCTTCATCATTTATTATCCCTATTTCAGTCTTTTATTTAAGAAGCAGCTCATGACATTCATATGTGTGTGTGTGTGTGTATATATATATATAAAATTTTTTTCTCAGGCAAAGGACAGTAAATAGATTTTTTCCTTAAGTCTAGCAATCATGTTTCTGCCACTTTGAAGGAGATGAAAAAGGCAAGCATTTCCAAGTTCCCAGCTAAGCTGTAAAACTCAAGCAAATCTCTCATTCTTTTCTAACAGACTTATAAAAGATGAGAATCTGGGAAAAATGTGTGGAGGTTCTTTCTTTCACAGGGTACCCTATGTATGAGCAAGAAGTGCAGGGGCTGCGTGTAAATTATTGCCTGCTCGAGTGCTGGGAGAAGGAACTGATTTCTGTTTGTTAGAGGTCATCATTACTGTTCATTTCAACAGCAGCCGGGAACTTGGTGATTTTGACAGAGAGTGTAAGGACGGTGGAGGGCTGAAGGGGAAAAAGAATGAAGGGAGTGTGTAAATCTTTGCTTGCTTTCATGAGTCTTAGAAAGAGCAACTTGCTCTGAGGTCTGATTTTTACAGCAGTCTTATTTCAGGATGACTGGATCATCACCTCTTTTGATTTGGGGAGAATGCGGGGCATTATTTTTGATTTTTGGAACATTAAAGTAACCTCAAACTTGTTTGGGGGTCATTATAGACTTCATTACAGTGATGTTACATAGCAAAGCTGCAGTGCTTGGAGATGAGGTCTTAAGACTGGCAGGATCTTGCTTGCTGTTGAGAAATCATGGATTTTTTTTTTTATCCAGTCTATCATTGATGGGCGTTTGGGTTGGTTC |
Task1_train_5402 | Located on Chromosome 2, this mutation impacts CPS1 (carbamoyl-phosphate synthase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Congenital hyperammonemia, type I | GAAATAGCCCAAAATATGTCCTTTTGATATGAAAGGTTTAACTAACTTGGTAGTTTCAAAACTTAGAGTCAAATCATTAAAAAGACTGGTATTAACTTTTAACAAAATTACCACAAATTCAATAGAAGTTGCCAGCTAAAAACTGAGAAAGTTTAGCTTAAGCACAATTGAGACAAAGTCCCAACACATTTCCATATGTTTTTCCTTTTTTTGTTTTCATATGAGGTTATAGATTCTAGCTGTGACAGTTACAGGCAAAACTTCTTTGCAGTGAATACCTCCACACAAAGCCTGGTTGAGTAAAACAAAATTATTCCCAAGGCTTATGATGGGCCTGTGGCCATGGGGATTTTTTGACCTGCTAACAAGGAATTAGCCATGAATAATTGAGAAATTATTAAATTTATGAGAAATTGTCATTGAATTATTAAATTCAAATTAAACATATAATTATTAAAATGGAAATGCAAATAAAATTGAGGTTCTTAAGTTTTTTAAATCACTGCAAATATATAAAAAATGTTTAAAGTGCCCATGCCTCTGGACTGTGAGTCCAAGTCTCTATCCATGGCACTATACTACTTCTCATGTTCAGCAATTTCTTCTTCTTTATGTTTTAAATTACATGTTCCATAAAAATAAGAAATCACTGTGATACGGTAATTGATTTTTTCATTTTAAATGCAGCTGTTTGCCACGGAAGCCACATCAGACTGGCTCAACGCCAACAATGTCCCTGCCACCCCAGTGGCATGGCCGTCTCAAGAAGGACAGAATCCCAGCCTCTCTTCCATCAGAAAGTAAGAACTAGGCATACTGTTTTCTGAAATAATTTAGAGGATTAACTTTGAGAACCAGTATATGAATATTTCACCTTACTTGATTGCAAGTCTTTTAAAACAAATTTAAAAATGAATACATTTGTGGATGATTGTCAAGTTTCACTCTCCATCACTATGGAATACATAACGTCATGTGTACATGGTGATATGAAACGTGTTTCAAAATACTTCTTAGTAAGGATACTTTCCTTGACGGAAACAAGTGAGAGCATGAAGAATGTAATGCAGCACTTTATATTTCATGTCAAACTTATATTGTGTATAGATAAGTACATCGAGTATAAGATGACCAGCTATATTTCACTAAGGTTGTGCATAATAAATCAATTTGTTGAGCACTTACTACATACAGGAACCTATGTTGAGTACTATGATGATGTCATCCATTGGATTACCTAATTGGTCATTCCTTGACCAGGTTTTCATGCCTTAGACCATGTCATCATTAGATTTTGTACGACATTTTATTTCAGCAGATTGTGTGAATCTTCAGGAATACCATTGCATCAACCCTTAAAGATCTATGTGGCATAAGTACATAGGAGATAATTCTCTGCTGTTTTAAGATAGTGCAGCCTACAGAATGGCTGTGCCATTCTATGCAATATGTTATTTGTTAGCGTTCTTGAGAAACCAACACATAAATTATTATCACTTTAATAAAATAATGGCATTGTGTTCAAACCTTAGCAGGCCTCCAAGGATGTAATAGCTCCGTGTTTGGGGCATTGTAAAACAATAATTAGCACTACTAAGGAGGCAATAGAGTTAATGTGGGAGTGGGAACATGGGGGTGAAAGGGCATTCAATGGTGGAGGGATCACCTCTTTTTAAAAAATAAGTATCTATCAAATTACCAATTCTTAATGAGTGAACAGATAGCATTTTAAAGAGAAAACAAACATCTGCATTCCATTAGACTTGCACTAGAATTCCTTCAAGAACACAATATAATCCCTATATAAGTGTAATTTAAACATCTACTTAGCAATAGAGGAGGGCAGATGGCAGTCAACTCAGCATGGCATTGACTTGAATGGCTAAGAGAGCAATTTATGTTAGTATTTTATAAACTAACTATAAAATATGCCTTGTTGTCTATAAGTTTTTGTTTATTTTTCCAGATTGATTAGAGATGGCAGCATTGACCTAGTGATTAACCTTCCCAACAACAACACTAAATTTGTCCATGATAATTATGTGATTCGGAGGACAGCTGTTGATAGTGGAATCCCTCTCCTCACTAATTTTCAGGTATAGTCTTTTCCTTGGATATAGACTGGATGGGAGTTTTATTTCTGTGCCTCCCTTAAGAGTGTAATCAGTAGATGCACATCTCTCTTTTCCCCTCTTTGTAACTTTCAGAATAGAGAGGAATTTTTAATAATCTAAAATAATGATGCTAACATGGTAGGTCATGGCTTAAATGGGACAGTTGGTGATCAAGCAATTGAGATAATCAAAGGCCATGAATGGCCATGGCTCTCTCCTTACAATTATCCTTTGAATAAAAAGTGACAGCATGACATGGAATAAAGATACAAACTTTTATTTCATTGTTTCTAAATGAAAGCCACCATATAAAAGCAACAGGTTAATGATGGTCCAGATGTAGCACAAGTGCTTGTTCAATTCACAGAAAATGATTGCATGAGGCATGTTCAGTTTCACTTGGACATGACCCATCGAATTTATCACAGGGAGAAACAGAGTGGAGACTCATTAACTTTCTGCCTATCATATTTATTTTTTATGCAGAATCAGTTTTAATCCCTATGGGAGGAGAAATAAGCGTATTCACAGTGACATCTGAGATATAAAAGAAAGTCCCCATGGTGAGGTCTGAGACATGGGAGAAAGTCTCCATTACATAAAAAACTTTTATGCCTTTTATCCCATACCCCTTTGAAAACTGGGGACAGACACTTGTGACTTTTGTCTTCATTCATTAAAAATTCACTTTTATCTCATGGAGGGTGCTGATTCCTACCATTATATTTTCAGGTGACCAAACTTTTTGCTGAAGCTGTGCAGAAATCTCGCAAGGTGGACTCCAAGAGTCTTTTCCACTACAGGCAGTACAGTGCTGGAAAAGCAGCATAGAGATGCAGACACCCCAGCCCCATTATTAAATCAACCTGAGCCACATGTTATCTAAAGGAACTGATTCACAACTTTCTCAGAGATGAATATTGATAACTAAACTTCATTTCAGTTTACTTTGTTATGCCTTAATATTCTGTGTCTTTTGCAATTAAATTGTCAGTCACTTCTTCAAAACCTTACAGTCCTTCCTAAGTTACTCTTCATGAGATTTCATCCATTTACTAATACTGTATTTTTGGTGGACTAGGCTTGCCTATGTGCTTATGTGTAGCTTTTTACTTTTTATGGTGCTGATTAATGGTGATCAAGGTAGGAAAAGTTGCTGTTCTATTTTCTGAACTCTTTCTATACTTTAAGATACTCTATTTTTAAAACACTATCTGCAAACTCAGGACACTTTAACAGGGCAGAATACTCTAAAAACTTGATAAAATTAAATATAGATTTAATTTATGAACCTTCCATCATGATGTTTGTGTATTGCTTCTTTTTGGATCCTCATTCTCACCCATTTGGCTAATCCAGGAATATTGTTATCCCTTCCCATTATATTGAAGTTGAGAAATGTGACAGAGGCATTTAGAGTATGGACTTTTCTTTTCTTTTTCTTTTTCTTTTTTTCTTTTTGAGATGGAGTCACACTCTCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATTTCCGTCTCCCAAGTTCAAGCGATTCTCCTGCTTTAGACTATGGATTTCTTTAAGGAATACTGGTTTGCAGTTTTGTTTTCTGGACTATATCAGCAGATGGTAGACAGTGTTTATGTAGATGTGTTGTTGTTTTTATCATTGGATTTTAACTTGGCCCGAGTGAAATAATCAGATTTTTGTCATTCACACTCTCCCCCAGTTTTGGAATAACTTGGAAGTAAGGTTCATTCCCTTAAGACGATGGATTCTGTTGAACTATGGGGTCCCACACTGCACTATTAATTCCACCCACTGTAAGGGCAAGGACACCATTCCTTCTACATATAAGAAAAAAGTCTCTCCCCAAGGGCAGCCTTTGTTACTTTTAAATATTTTCTGTTATTACAAGTGCTCTAATTGTGAACTTTTAAATAAAATACTATTAAGAGGTAATGCAGTTGAATCTGGTTTTATTTTATGTT | GAAATAGCCCAAAATATGTCCTTTTGATATGAAAGGTTTAACTAACTTGGTAGTTTCAAAACTTAGAGTCAAATCATTAAAAAGACTGGTATTAACTTTTAACAAAATTACCACAAATTCAATAGAAGTTGCCAGCTAAAAACTGAGAAAGTTTAGCTTAAGCACAATTGAGACAAAGTCCCAACACATTTCCATATGTTTTTCCTTTTTTTGTTTTCATATGAGGTTATAGATTCTAGCTGTGACAGTTACAGGCAAAACTTCTTTGCAGTGAATACCTCCACACAAAGCCTGGTTGAGTAAAACAAAATTATTCCCAAGGCTTATGATGGGCCTGTGGCCATGGGGATTTTTTGACCTGCTAACAAGGAATTAGCCATGAATAATTGAGAAATTATTAAATTTATGAGAAATTGTCATTGAATTATTAAATTCAAATTAAACATATAATTATTAAAATGGAAATGCAAATAAAATTGAGGTTCTTAAGTTTTTTAAATCACTGCAAATATATAAAAAATGTTTAAAGTGCCCATGCCTCTGGACTGTGAGTCCAAGTCTCTATCCATGGCACTATACTACTTCTCATGTTCAGCAATTTCTTCTTCTTTATGTTTTAAATTACATGTTCCATAAAAATAAGAAATCACTGTGATACGGTAATTGATTTTTTCATTTTAAATGCAGCTGTTTGCCACGGAAGCCACATCAGACTGGCTCAACGCCAACAATGTCCCTGCCACCCCAGTGGCATGGCCGTCTCAAGAAGGACAGAATCCCAGCCTCTCTTCCATCAGAAAGTAAGAACTAGGCATACTGTTTTCTGAAATAATTTAGAGGATTAACTTTGAGAACCAGTATATGAATATTTCACCTTACTTGATTGCAAGTCTTTTAAAACAAATTTAAAAATGAATACATTTGTGGATGATTGTCAAGTTTCACTCTCCATCACTATGGAATACATAACGTCATGTGTACATGGTGATATGAAACGTGTTTCAAAATACTTCTTAGTAAGGATACTTTCCTTGACGGAAACAAGTGAGAGCATGAAGAATGTAATGCAGCACTTTATATTTCATGTCAAACTTATATTGTGTATAGATAAGTACATCGAGTATAAGATGACCAGCTATATTTCACTAAGGTTGTGCATAATAAATCAATTTGTTGAGCACTTACTACATACAGGAACCTATGTTGAGTACTATGATGATGTCATCCATTGGATTACCTAATTGGTCATTCCTTGACCAGGTTTTCATGCCTTAGACCATGTCATCATTAGATTTTGTACGACATTTTATTTCAGCAGATTGTGTGAATCTTCAGGAATACCATTGCATCAACCCTTAAAGATCTATGTGGCATAAGTACATAGGAGATAATTCTCTGCTGTTTTAAGATAGTGCAGCCTACAGAATGGCTGTGCCATTCTATGCAATATGTTATTTGTTAGCGTTCTTGAGAAACCAACACATAAATTATTATCACTTTAATAAAATAATGGCATTGTGTTCAAACCTTAGCAGGCCTCCAAGGATGTAATAGCTCCGTGTTTGGGGCATTGTAAAACAATAATTAGCACTACTAAGGAGGCAATAGAGTTAATGTGGGAGTGGGAACATGGGGGTGAAAGGGCATTCAATGGTGGAGGGATCACCTCTTTTTAAAAAATAAGTATCTATCAAATTACCAATTCTTAATGAGTGAACAGATAGCATTTTAAAGAGAAAACAAACATCTGCATTCCATTAGACTTGCACTAGAATTCCTTCAAGAACACAATATAATCCCTATATAAGTGTAATTTAAACATCTACTTAGCAATAGAGGAGGGCAGATGGCAGTCAACTCAGCATGGCATTGACTTGAATGGCTAAGAGAGCAATTTATGTTAGTATTTTATAAACTAACTATAAAATATGCCTTGTTGTCTATAAGTTTTTGTTTATTTTTCCAGATTGATTAGAGATGGCAGCATTGACCTAGTGATTAACCTTCCCAACAACAACACTAAATTTGTCCATGATAATTATGTGATTTGGAGGACAGCTGTTGATAGTGGAATCCCTCTCCTCACTAATTTTCAGGTATAGTCTTTTCCTTGGATATAGACTGGATGGGAGTTTTATTTCTGTGCCTCCCTTAAGAGTGTAATCAGTAGATGCACATCTCTCTTTTCCCCTCTTTGTAACTTTCAGAATAGAGAGGAATTTTTAATAATCTAAAATAATGATGCTAACATGGTAGGTCATGGCTTAAATGGGACAGTTGGTGATCAAGCAATTGAGATAATCAAAGGCCATGAATGGCCATGGCTCTCTCCTTACAATTATCCTTTGAATAAAAAGTGACAGCATGACATGGAATAAAGATACAAACTTTTATTTCATTGTTTCTAAATGAAAGCCACCATATAAAAGCAACAGGTTAATGATGGTCCAGATGTAGCACAAGTGCTTGTTCAATTCACAGAAAATGATTGCATGAGGCATGTTCAGTTTCACTTGGACATGACCCATCGAATTTATCACAGGGAGAAACAGAGTGGAGACTCATTAACTTTCTGCCTATCATATTTATTTTTTATGCAGAATCAGTTTTAATCCCTATGGGAGGAGAAATAAGCGTATTCACAGTGACATCTGAGATATAAAAGAAAGTCCCCATGGTGAGGTCTGAGACATGGGAGAAAGTCTCCATTACATAAAAAACTTTTATGCCTTTTATCCCATACCCCTTTGAAAACTGGGGACAGACACTTGTGACTTTTGTCTTCATTCATTAAAAATTCACTTTTATCTCATGGAGGGTGCTGATTCCTACCATTATATTTTCAGGTGACCAAACTTTTTGCTGAAGCTGTGCAGAAATCTCGCAAGGTGGACTCCAAGAGTCTTTTCCACTACAGGCAGTACAGTGCTGGAAAAGCAGCATAGAGATGCAGACACCCCAGCCCCATTATTAAATCAACCTGAGCCACATGTTATCTAAAGGAACTGATTCACAACTTTCTCAGAGATGAATATTGATAACTAAACTTCATTTCAGTTTACTTTGTTATGCCTTAATATTCTGTGTCTTTTGCAATTAAATTGTCAGTCACTTCTTCAAAACCTTACAGTCCTTCCTAAGTTACTCTTCATGAGATTTCATCCATTTACTAATACTGTATTTTTGGTGGACTAGGCTTGCCTATGTGCTTATGTGTAGCTTTTTACTTTTTATGGTGCTGATTAATGGTGATCAAGGTAGGAAAAGTTGCTGTTCTATTTTCTGAACTCTTTCTATACTTTAAGATACTCTATTTTTAAAACACTATCTGCAAACTCAGGACACTTTAACAGGGCAGAATACTCTAAAAACTTGATAAAATTAAATATAGATTTAATTTATGAACCTTCCATCATGATGTTTGTGTATTGCTTCTTTTTGGATCCTCATTCTCACCCATTTGGCTAATCCAGGAATATTGTTATCCCTTCCCATTATATTGAAGTTGAGAAATGTGACAGAGGCATTTAGAGTATGGACTTTTCTTTTCTTTTTCTTTTTCTTTTTTTCTTTTTGAGATGGAGTCACACTCTCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATTTCCGTCTCCCAAGTTCAAGCGATTCTCCTGCTTTAGACTATGGATTTCTTTAAGGAATACTGGTTTGCAGTTTTGTTTTCTGGACTATATCAGCAGATGGTAGACAGTGTTTATGTAGATGTGTTGTTGTTTTTATCATTGGATTTTAACTTGGCCCGAGTGAAATAATCAGATTTTTGTCATTCACACTCTCCCCCAGTTTTGGAATAACTTGGAAGTAAGGTTCATTCCCTTAAGACGATGGATTCTGTTGAACTATGGGGTCCCACACTGCACTATTAATTCCACCCACTGTAAGGGCAAGGACACCATTCCTTCTACATATAAGAAAAAAGTCTCTCCCCAAGGGCAGCCTTTGTTACTTTTAAATATTTTCTGTTATTACAAGTGCTCTAATTGTGAACTTTTAAATAAAATACTATTAAGAGGTAATGCAGTTGAATCTGGTTTTATTTTATGTT 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Task1_train_5403 | A variant found in Chromosome 2 affects CPS1 (carbamoyl-phosphate synthase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Pulmonary hypertension, neonatal, susceptibility to | GAAATAGCCCAAAATATGTCCTTTTGATATGAAAGGTTTAACTAACTTGGTAGTTTCAAAACTTAGAGTCAAATCATTAAAAAGACTGGTATTAACTTTTAACAAAATTACCACAAATTCAATAGAAGTTGCCAGCTAAAAACTGAGAAAGTTTAGCTTAAGCACAATTGAGACAAAGTCCCAACACATTTCCATATGTTTTTCCTTTTTTTGTTTTCATATGAGGTTATAGATTCTAGCTGTGACAGTTACAGGCAAAACTTCTTTGCAGTGAATACCTCCACACAAAGCCTGGTTGAGTAAAACAAAATTATTCCCAAGGCTTATGATGGGCCTGTGGCCATGGGGATTTTTTGACCTGCTAACAAGGAATTAGCCATGAATAATTGAGAAATTATTAAATTTATGAGAAATTGTCATTGAATTATTAAATTCAAATTAAACATATAATTATTAAAATGGAAATGCAAATAAAATTGAGGTTCTTAAGTTTTTTAAATCACTGCAAATATATAAAAAATGTTTAAAGTGCCCATGCCTCTGGACTGTGAGTCCAAGTCTCTATCCATGGCACTATACTACTTCTCATGTTCAGCAATTTCTTCTTCTTTATGTTTTAAATTACATGTTCCATAAAAATAAGAAATCACTGTGATACGGTAATTGATTTTTTCATTTTAAATGCAGCTGTTTGCCACGGAAGCCACATCAGACTGGCTCAACGCCAACAATGTCCCTGCCACCCCAGTGGCATGGCCGTCTCAAGAAGGACAGAATCCCAGCCTCTCTTCCATCAGAAAGTAAGAACTAGGCATACTGTTTTCTGAAATAATTTAGAGGATTAACTTTGAGAACCAGTATATGAATATTTCACCTTACTTGATTGCAAGTCTTTTAAAACAAATTTAAAAATGAATACATTTGTGGATGATTGTCAAGTTTCACTCTCCATCACTATGGAATACATAACGTCATGTGTACATGGTGATATGAAACGTGTTTCAAAATACTTCTTAGTAAGGATACTTTCCTTGACGGAAACAAGTGAGAGCATGAAGAATGTAATGCAGCACTTTATATTTCATGTCAAACTTATATTGTGTATAGATAAGTACATCGAGTATAAGATGACCAGCTATATTTCACTAAGGTTGTGCATAATAAATCAATTTGTTGAGCACTTACTACATACAGGAACCTATGTTGAGTACTATGATGATGTCATCCATTGGATTACCTAATTGGTCATTCCTTGACCAGGTTTTCATGCCTTAGACCATGTCATCATTAGATTTTGTACGACATTTTATTTCAGCAGATTGTGTGAATCTTCAGGAATACCATTGCATCAACCCTTAAAGATCTATGTGGCATAAGTACATAGGAGATAATTCTCTGCTGTTTTAAGATAGTGCAGCCTACAGAATGGCTGTGCCATTCTATGCAATATGTTATTTGTTAGCGTTCTTGAGAAACCAACACATAAATTATTATCACTTTAATAAAATAATGGCATTGTGTTCAAACCTTAGCAGGCCTCCAAGGATGTAATAGCTCCGTGTTTGGGGCATTGTAAAACAATAATTAGCACTACTAAGGAGGCAATAGAGTTAATGTGGGAGTGGGAACATGGGGGTGAAAGGGCATTCAATGGTGGAGGGATCACCTCTTTTTAAAAAATAAGTATCTATCAAATTACCAATTCTTAATGAGTGAACAGATAGCATTTTAAAGAGAAAACAAACATCTGCATTCCATTAGACTTGCACTAGAATTCCTTCAAGAACACAATATAATCCCTATATAAGTGTAATTTAAACATCTACTTAGCAATAGAGGAGGGCAGATGGCAGTCAACTCAGCATGGCATTGACTTGAATGGCTAAGAGAGCAATTTATGTTAGTATTTTATAAACTAACTATAAAATATGCCTTGTTGTCTATAAGTTTTTGTTTATTTTTCCAGATTGATTAGAGATGGCAGCATTGACCTAGTGATTAACCTTCCCAACAACAACACTAAATTTGTCCATGATAATTATGTGATTCGGAGGACAGCTGTTGATAGTGGAATCCCTCTCCTCACTAATTTTCAGGTATAGTCTTTTCCTTGGATATAGACTGGATGGGAGTTTTATTTCTGTGCCTCCCTTAAGAGTGTAATCAGTAGATGCACATCTCTCTTTTCCCCTCTTTGTAACTTTCAGAATAGAGAGGAATTTTTAATAATCTAAAATAATGATGCTAACATGGTAGGTCATGGCTTAAATGGGACAGTTGGTGATCAAGCAATTGAGATAATCAAAGGCCATGAATGGCCATGGCTCTCTCCTTACAATTATCCTTTGAATAAAAAGTGACAGCATGACATGGAATAAAGATACAAACTTTTATTTCATTGTTTCTAAATGAAAGCCACCATATAAAAGCAACAGGTTAATGATGGTCCAGATGTAGCACAAGTGCTTGTTCAATTCACAGAAAATGATTGCATGAGGCATGTTCAGTTTCACTTGGACATGACCCATCGAATTTATCACAGGGAGAAACAGAGTGGAGACTCATTAACTTTCTGCCTATCATATTTATTTTTTATGCAGAATCAGTTTTAATCCCTATGGGAGGAGAAATAAGCGTATTCACAGTGACATCTGAGATATAAAAGAAAGTCCCCATGGTGAGGTCTGAGACATGGGAGAAAGTCTCCATTACATAAAAAACTTTTATGCCTTTTATCCCATACCCCTTTGAAAACTGGGGACAGACACTTGTGACTTTTGTCTTCATTCATTAAAAATTCACTTTTATCTCATGGAGGGTGCTGATTCCTACCATTATATTTTCAGGTGACCAAACTTTTTGCTGAAGCTGTGCAGAAATCTCGCAAGGTGGACTCCAAGAGTCTTTTCCACTACAGGCAGTACAGTGCTGGAAAAGCAGCATAGAGATGCAGACACCCCAGCCCCATTATTAAATCAACCTGAGCCACATGTTATCTAAAGGAACTGATTCACAACTTTCTCAGAGATGAATATTGATAACTAAACTTCATTTCAGTTTACTTTGTTATGCCTTAATATTCTGTGTCTTTTGCAATTAAATTGTCAGTCACTTCTTCAAAACCTTACAGTCCTTCCTAAGTTACTCTTCATGAGATTTCATCCATTTACTAATACTGTATTTTTGGTGGACTAGGCTTGCCTATGTGCTTATGTGTAGCTTTTTACTTTTTATGGTGCTGATTAATGGTGATCAAGGTAGGAAAAGTTGCTGTTCTATTTTCTGAACTCTTTCTATACTTTAAGATACTCTATTTTTAAAACACTATCTGCAAACTCAGGACACTTTAACAGGGCAGAATACTCTAAAAACTTGATAAAATTAAATATAGATTTAATTTATGAACCTTCCATCATGATGTTTGTGTATTGCTTCTTTTTGGATCCTCATTCTCACCCATTTGGCTAATCCAGGAATATTGTTATCCCTTCCCATTATATTGAAGTTGAGAAATGTGACAGAGGCATTTAGAGTATGGACTTTTCTTTTCTTTTTCTTTTTCTTTTTTTCTTTTTGAGATGGAGTCACACTCTCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATTTCCGTCTCCCAAGTTCAAGCGATTCTCCTGCTTTAGACTATGGATTTCTTTAAGGAATACTGGTTTGCAGTTTTGTTTTCTGGACTATATCAGCAGATGGTAGACAGTGTTTATGTAGATGTGTTGTTGTTTTTATCATTGGATTTTAACTTGGCCCGAGTGAAATAATCAGATTTTTGTCATTCACACTCTCCCCCAGTTTTGGAATAACTTGGAAGTAAGGTTCATTCCCTTAAGACGATGGATTCTGTTGAACTATGGGGTCCCACACTGCACTATTAATTCCACCCACTGTAAGGGCAAGGACACCATTCCTTCTACATATAAGAAAAAAGTCTCTCCCCAAGGGCAGCCTTTGTTACTTTTAAATATTTTCTGTTATTACAAGTGCTCTAATTGTGAACTTTTAAATAAAATACTATTAAGAGGTAATGCAGTTGAATCTGGTTTTATTTTATGTT | GAAATAGCCCAAAATATGTCCTTTTGATATGAAAGGTTTAACTAACTTGGTAGTTTCAAAACTTAGAGTCAAATCATTAAAAAGACTGGTATTAACTTTTAACAAAATTACCACAAATTCAATAGAAGTTGCCAGCTAAAAACTGAGAAAGTTTAGCTTAAGCACAATTGAGACAAAGTCCCAACACATTTCCATATGTTTTTCCTTTTTTTGTTTTCATATGAGGTTATAGATTCTAGCTGTGACAGTTACAGGCAAAACTTCTTTGCAGTGAATACCTCCACACAAAGCCTGGTTGAGTAAAACAAAATTATTCCCAAGGCTTATGATGGGCCTGTGGCCATGGGGATTTTTTGACCTGCTAACAAGGAATTAGCCATGAATAATTGAGAAATTATTAAATTTATGAGAAATTGTCATTGAATTATTAAATTCAAATTAAACATATAATTATTAAAATGGAAATGCAAATAAAATTGAGGTTCTTAAGTTTTTTAAATCACTGCAAATATATAAAAAATGTTTAAAGTGCCCATGCCTCTGGACTGTGAGTCCAAGTCTCTATCCATGGCACTATACTACTTCTCATGTTCAGCAATTTCTTCTTCTTTATGTTTTAAATTACATGTTCCATAAAAATAAGAAATCACTGTGATACGGTAATTGATTTTTTCATTTTAAATGCAGCTGTTTGCCACGGAAGCCACATCAGACTGGCTCAACGCCAACAATGTCCCTGCCACCCCAGTGGCATGGCCGTCTCAAGAAGGACAGAATCCCAGCCTCTCTTCCATCAGAAAGTAAGAACTAGGCATACTGTTTTCTGAAATAATTTAGAGGATTAACTTTGAGAACCAGTATATGAATATTTCACCTTACTTGATTGCAAGTCTTTTAAAACAAATTTAAAAATGAATACATTTGTGGATGATTGTCAAGTTTCACTCTCCATCACTATGGAATACATAACGTCATGTGTACATGGTGATATGAAACGTGTTTCAAAATACTTCTTAGTAAGGATACTTTCCTTGACGGAAACAAGTGAGAGCATGAAGAATGTAATGCAGCACTTTATATTTCATGTCAAACTTATATTGTGTATAGATAAGTACATCGAGTATAAGATGACCAGCTATATTTCACTAAGGTTGTGCATAATAAATCAATTTGTTGAGCACTTACTACATACAGGAACCTATGTTGAGTACTATGATGATGTCATCCATTGGATTACCTAATTGGTCATTCCTTGACCAGGTTTTCATGCCTTAGACCATGTCATCATTAGATTTTGTACGACATTTTATTTCAGCAGATTGTGTGAATCTTCAGGAATACCATTGCATCAACCCTTAAAGATCTATGTGGCATAAGTACATAGGAGATAATTCTCTGCTGTTTTAAGATAGTGCAGCCTACAGAATGGCTGTGCCATTCTATGCAATATGTTATTTGTTAGCGTTCTTGAGAAACCAACACATAAATTATTATCACTTTAATAAAATAATGGCATTGTGTTCAAACCTTAGCAGGCCTCCAAGGATGTAATAGCTCCGTGTTTGGGGCATTGTAAAACAATAATTAGCACTACTAAGGAGGCAATAGAGTTAATGTGGGAGTGGGAACATGGGGGTGAAAGGGCATTCAATGGTGGAGGGATCACCTCTTTTTAAAAAATAAGTATCTATCAAATTACCAATTCTTAATGAGTGAACAGATAGCATTTTAAAGAGAAAACAAACATCTGCATTCCATTAGACTTGCACTAGAATTCCTTCAAGAACACAATATAATCCCTATATAAGTGTAATTTAAACATCTACTTAGCAATAGAGGAGGGCAGATGGCAGTCAACTCAGCATGGCATTGACTTGAATGGCTAAGAGAGCAATTTATGTTAGTATTTTATAAACTAACTATAAAATATGCCTTGTTGTCTATAAGTTTTTGTTTATTTTTCCAGATTGATTAGAGATGGCAGCATTGACCTAGTGATTAACCTTCCCAACAACAACACTAAATTTGTCCATGATAATTATGTGATTTGGAGGACAGCTGTTGATAGTGGAATCCCTCTCCTCACTAATTTTCAGGTATAGTCTTTTCCTTGGATATAGACTGGATGGGAGTTTTATTTCTGTGCCTCCCTTAAGAGTGTAATCAGTAGATGCACATCTCTCTTTTCCCCTCTTTGTAACTTTCAGAATAGAGAGGAATTTTTAATAATCTAAAATAATGATGCTAACATGGTAGGTCATGGCTTAAATGGGACAGTTGGTGATCAAGCAATTGAGATAATCAAAGGCCATGAATGGCCATGGCTCTCTCCTTACAATTATCCTTTGAATAAAAAGTGACAGCATGACATGGAATAAAGATACAAACTTTTATTTCATTGTTTCTAAATGAAAGCCACCATATAAAAGCAACAGGTTAATGATGGTCCAGATGTAGCACAAGTGCTTGTTCAATTCACAGAAAATGATTGCATGAGGCATGTTCAGTTTCACTTGGACATGACCCATCGAATTTATCACAGGGAGAAACAGAGTGGAGACTCATTAACTTTCTGCCTATCATATTTATTTTTTATGCAGAATCAGTTTTAATCCCTATGGGAGGAGAAATAAGCGTATTCACAGTGACATCTGAGATATAAAAGAAAGTCCCCATGGTGAGGTCTGAGACATGGGAGAAAGTCTCCATTACATAAAAAACTTTTATGCCTTTTATCCCATACCCCTTTGAAAACTGGGGACAGACACTTGTGACTTTTGTCTTCATTCATTAAAAATTCACTTTTATCTCATGGAGGGTGCTGATTCCTACCATTATATTTTCAGGTGACCAAACTTTTTGCTGAAGCTGTGCAGAAATCTCGCAAGGTGGACTCCAAGAGTCTTTTCCACTACAGGCAGTACAGTGCTGGAAAAGCAGCATAGAGATGCAGACACCCCAGCCCCATTATTAAATCAACCTGAGCCACATGTTATCTAAAGGAACTGATTCACAACTTTCTCAGAGATGAATATTGATAACTAAACTTCATTTCAGTTTACTTTGTTATGCCTTAATATTCTGTGTCTTTTGCAATTAAATTGTCAGTCACTTCTTCAAAACCTTACAGTCCTTCCTAAGTTACTCTTCATGAGATTTCATCCATTTACTAATACTGTATTTTTGGTGGACTAGGCTTGCCTATGTGCTTATGTGTAGCTTTTTACTTTTTATGGTGCTGATTAATGGTGATCAAGGTAGGAAAAGTTGCTGTTCTATTTTCTGAACTCTTTCTATACTTTAAGATACTCTATTTTTAAAACACTATCTGCAAACTCAGGACACTTTAACAGGGCAGAATACTCTAAAAACTTGATAAAATTAAATATAGATTTAATTTATGAACCTTCCATCATGATGTTTGTGTATTGCTTCTTTTTGGATCCTCATTCTCACCCATTTGGCTAATCCAGGAATATTGTTATCCCTTCCCATTATATTGAAGTTGAGAAATGTGACAGAGGCATTTAGAGTATGGACTTTTCTTTTCTTTTTCTTTTTCTTTTTTTCTTTTTGAGATGGAGTCACACTCTCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATTTCCGTCTCCCAAGTTCAAGCGATTCTCCTGCTTTAGACTATGGATTTCTTTAAGGAATACTGGTTTGCAGTTTTGTTTTCTGGACTATATCAGCAGATGGTAGACAGTGTTTATGTAGATGTGTTGTTGTTTTTATCATTGGATTTTAACTTGGCCCGAGTGAAATAATCAGATTTTTGTCATTCACACTCTCCCCCAGTTTTGGAATAACTTGGAAGTAAGGTTCATTCCCTTAAGACGATGGATTCTGTTGAACTATGGGGTCCCACACTGCACTATTAATTCCACCCACTGTAAGGGCAAGGACACCATTCCTTCTACATATAAGAAAAAAGTCTCTCCCCAAGGGCAGCCTTTGTTACTTTTAAATATTTTCTGTTATTACAAGTGCTCTAATTGTGAACTTTTAAATAAAATACTATTAAGAGGTAATGCAGTTGAATCTGGTTTTATTTTATGTT 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Task1_train_5404 | Assess the clinical impact of this variant on gene ERBB4 (erb-b2 receptor tyrosine kinase 4), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | TGGATGGATGGATGGATTTACTTGTTCAGAATAGGAAGAAACACAAATTTCTTTGGATTTTTTTCTCTAAACTTTCTCTGCCTTAATAGATATTTTTACTCTAATTAATTAATCTTATACTATTGATTCTAATTTGGTCCCAATATTTTAACATTAGAAATATTTTTTAAAAATCTAAATGACTTGGGGTAGAATTTTCAGAAAAGGGCGACTTATATCTAAGTTTCCTAATTATTGATGTGAGGCCCCCTTTACTTGGAGACTCATCTCTGTCATTTGTTCTCATCCTTCATCTCATCAGGTATTCTTTCAAAATGATACATAATAATGATGGTTCTAGTACTGGATGCAGTATATGAAGAAAGGGAATTATATAAAGTATCAAAAGATTAGTGTGTTGGATAATAAAATAATTGCATGAGAAGATGTTTCACATTTATTTACAACTTTTGACCCAAGGACCTATCCCTAAGCTTTGAATGTTTGTGTTTTTCTTTTTATTATACCAATTTATGTGCAAAGAGTTACCTTCTACTTCATATAAATAGTCTCATACTAGAAATTCCATGGAATTCAAGCCAATCCTTACTCGCATTCCTTCTTACGAAGTATACGAACTGAACAAATTTCCTTGCGTAGCAAAGGTGACATATGAAGATAATGTGCTGGCCTCTCATCATAGTCCCTGGATACCGTTGCAAGGTTCCTAATTTGCTTGGTTTGGCATTTCCACAGTCTTTATCTTAGCTCTTTTTTTAAAAATGTACTTAAATTAGTTAATTTGCTGGTTGCTTCCATATTGCTTGATTCAAAATCCAAAATGGAGTTCAGAAAAAGAACAAATAAAATTACAGCTTAAGTGCAAACTACATTTCTGAGTATCTGCCAGGTAGACATACCCAATCCAGTGTGTTTCTTCCAGTTCAATGGATTCCCTCATTGGGCCACCCCTGAAAGTATCAGTAGTTTTCCTGAACCACAGAGAACTGTCTCTTAGTTTCCCTTCTACTCTTCAGACAACCAACGGCCTATCAAGTAGTGTCATTTATGGAGAAAAAAAAATGTTGAAAAATGTAAAGGATGAGGGTGAAGATAATTTGATAGCATGAAAAATATTAGCCTCCCTTTCTTATTTTAAAGATTGTATACTTAAAGTAGTGGCCATTTCACTATATTAAAATATTTCTTGCTTAAATTCTGTGAAGAAGCTTTGATGTAAACATCTTTGCAATTAGAAATTAAAGCCAAAAATAGGGGAGCAAATATAAAGGAATCGGTCAGAGCAAAACAAAATGAAAAAAACCAAAAAGTGTTGAAAACATAATTACTAGTTATAACTTTAATGGAGATTTTTAAATTATGAAAGTTGAGTTGGCCATTCTTACTTGCTAGGACAGAAACTGCTGGGGAAAGAAACTGGATTCTCAATTTCAGACACCATCATATGTTATAGAAAATGTTATTCTTTTGTTCTAATGGAAACTTTATTATGATTTCCAGGGATGCTAAATATGCACACATCAGTTCCTGCAGATAGGAACAGATAGCATGGGTGTTTCAACCATCTGCTTTAAAAAAAAAAAAAAAAAAGAAGAGGAAGAAAGAAACAAAGAAAGAAAAAGAAAAAGAAAAAAAGTGACAGCTAGTTTGATAGTAGGCAGCATTGCCTTACATTTTCTGGTCCTTCTCTAGCTGTTTCATTCTCCTGACCAACCCATGCAGAGAAATGAAGAAACATTGTGGTTCCTCCTATCTTTCTCTTTCAGTCTTTCCCTCTAATGTTCAAGTTAGGTAAGCACATAACTATCATTGCATCTCTGTATCTTCCACTGGGAAGTGTCAAAACTACTGGCCTTGGGGTAGAAGGAAGACCACCAGAGAAAGAGAGGGGGGTGGGGAAATTGGAGCAGGTGTGTCTCTCCACCTAAAAAACCACAACTGAGCTTACACCACAGTATTCCGGTGTCTGTAAGGTGGAGGCGGCAGCACAGTGCCTGGCTTCAGGGAGAACTCAGAGAGGTATTCAGGATTCTCTGCCACAATAGGCCGGATCCGCCCATTCTGTTTATAAAAATATTTTGTGCTGTACTCCTGCAGGTAGTCTGGGTGCTGAAGGGTGCTCCGAGGTGGCAGGCTGTGGTTCCAGTAGTCAGGGTTGTCAAACGCTTTCTTGGCCTTCTCTGGCATTGACAGTATGTTGTTCTTCAGGTACTCAGCTTTTCCCAAGGTGTTGGCAAAGGTGTTGAGGTACAGTGGCTCATTCACATACTCATCCTCGGCCTTGGGTGGACCATTGGATGCATTGTGATATTCGGGATTATCCAATGCTTGAAGGTCTCCATTTTTTCTCCGAGAAACAAAAGGGTTCTCCTCCACTGGATTCAGGTATTCTAAAGGAATAAAAAAATATCAGCTAACCTCTAGTTTCTGGAAAATATTAATCAGACCAAGGTTATACATAATGGTTAGCTTCTTTGTCTAGAACAAAAAAACCCACAGATTTGTTTTCATGATTTCTCACAACAAGTATTTGTGGATCACCATTGTCTTATGAAAAAAAGAGTAAGTGGGTCAAAAATGTTTATAATAAAACAAGAAGCCAACGAGGCCAGAATCAGAATTTCTATCTCCTAAATTTTTCTTTCTTTCTAATTGCATTTGTCTCTTCTGCATATGGGGCTGGTTGTTTCAATGTTTTTGTTTTCTAAAAGTTATTTATATTAGGAAATAAGACTACCTATTAGGATTAAATAGTCTTTAAATATACAGACAACTTAACTTCTATAAAGGATATTGAAAAAACAAGAATCTATAGCTGAGTTCCATGCCAAGATGAATAGATGGAGTGAAGAAATCATGTTTTTTAGTCTCTATGGTTTGCTATGATTGCCTATACTGGTAACAAGGATTTAATTGGAGATGCTTCTGAAAAAGGTTTTACACATGGAAAAGAAAGCATCAAAGGAAAAAAATTCAACTAAAAAAGCAAATCTAACAGATAGCTAACATGCCTCTAGTTGACCTGCTTGACATTACATATACTTCTACTTAATAGTAAAGTATAATTATAATATTTCCATTGACCAATCATAATCACAAAGTAGCAAACTATCAGCTTGAATTATATAAAATAAAATAAATTTTGTATATTGAAACCAGTCAATTAGTGCCTATTTTGTACGGATCAATCTAATAAATCCATCTAGTATAGGTATTGGCCTAAAAGGTGCTAATAATTATCACCATTCTCCTGAAGCTTAATTCCACATCTATGTCTATAATATAGACTGCACATAGACATAAACACGCATGTATTGTAAGTCCTCTGACAGTCCTCTCTTTTACTATATACACAAAGCCCTAAGCTATTCCTATTTTGAATTCAAGGCATGAAGAGGGCACAATTCTTTGTTGAGAGGCCATTCTGAAACAAACTTTCTGTCTTTTATCCTTAGCCCAATAAGTAGAGAGAAAAATCCTATTAAGTGAGGATTATTTTTCTCCAAATATATATATACAGAATAGGTAAGTATTTAGCATCATTTATTCAACTTAAAGGGCAGTAATGAATATCCCACTATCATATATAGGCCTTTACAAGACACTATCATTTCATCCTCCCAATTCTGTGAAAAAGAAGTACAAGACTTATTTTTCCAGCTTTGTAGACAGAAAAATGAGATTAAATGATGTGTGCAGGATACAATTAGTGTTGGGATAGAATTCAGGTCTTCTAACTCCTCTTGCATAATCTTCTTATTCTACTGCACTGTTTTTTATTATTGCCCCTGCAGGAGTTGGGTGAACTTTATGCTTAGTAACAAGTTTTAATTTGACAAGTGTATGAAAACATTTATAAGGAATGCAGAATTTGGTCTCTCTTACCAGATTCCTTAAACTTCTTAATTGAAAGAATAGGAATGTCTACACTAAAATTCTGTACTCTCTGAGTACGAGGTTAGACTATAGCAACCTTTTATAGAAACGGAGCTTAGTGTTCAGAGATAAAATCTGAGAATACAGTGTGACTCTATAGGGTGACTTGCTTTTCTCTTCACCTTACCTTTCCTCAATGCAATCTACTTATATATTGTCC 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TGGATGGATGGATGGATTTACTTGTTCAGAATAGGAAGAAACACAAATTTCTTTGGATTTTTTTCTCTAAACTTTCTCTGCCTTAATAGATATTTTTACTCTAATTAATTAATCTTATACTATTGATTCTAATTTGGTCCCAATATTTTAACATTAGAAATATTTTTTAAAAATCTAAATGACTTGGGGTAGAATTTTCAGAAAAGGGCGACTTATATCTAAGTTTCCTAATTATTGATGTGAGGCCCCCTTTACTTGGAGACTCATCTCTGTCATTTGTTCTCATCCTTCATCTCATCAGGTATTCTTTCAAAATGATACATAATAATGATGGTTCTAGTACTGGATGCAGTATATGAAGAAAGGGAATTATATAAAGTATCAAAAGATTAGTGTGTTGGATAATAAAATAATTGCATGAGAAGATGTTTCACATTTATTTACAACTTTTGACCCAAGGACCTATCCCTAAGCTTTGAATGTTTGTGTTTTTCTTTTTATTATACCAATTTATGTGCAAAGAGTTACCTTCTACTTCATATAAATAGTCTCATACTAGAAATTCCATGGAATTCAAGCCAATCCTTACTCGCATTCCTTCTTACGAAGTATACGAACTGAACAAATTTCCTTGCGTAGCAAAGGTGACATATGAAGATAATGTGCTGGCCTCTCATCATAGTCCCTGGATACCGTTGCAAGGTTCCTAATTTGCTTGGTTTGGCATTTCCACAGTCTTTATCTTAGCTCTTTTTTTAAAAATGTACTTAAATTAGTTAATTTGCTGGTTGCTTCCATATTGCTTGATTCAAAATCCAAAATGGAGTTCAGAAAAAGAACAAATAAAATTACAGCTTAAGTGCAAACTACATTTCTGAGTATCTGCCAGGTAGACATACCCAATCCAGTGTGTTTCTTCCAGTTCAATGGATTCCCTCATTGGGCCACCCCTGAAAGTATCAGTAGTTTTCCTGAACCACAGAGAACTGTCTCTTAGTTTCCCTTCTACTCTTCAGACAACCAACGGCCTATCAAGTAGTGTCATTTATGGAGAAAAAAAAATGTTGAAAAATGTAAAGGATGAGGGTGAAGATAATTTGATAGCATGAAAAATATTAGCCTCCCTTTCTTATTTTAAAGATTGTATACTTAAAGTAGTGGCCATTTCACTATATTAAAATATTTCTTGCTTAAATTCTGTGAAGAAGCTTTGATGTAAACATCTTTGCAATTAGAAATTAAAGCCAAAAATAGGGGAGCAAATATAAAGGAATCGGTCAGAGCAAAACAAAATGAAAAAAACCAAAAAGTGTTGAAAACATAATTACTAGTTATAACTTTAATGGAGATTTTTAAATTATGAAAGTTGAGTTGGCCATTCTTACTTGCTAGGACAGAAACTGCTGGGGAAAGAAACTGGATTCTCAATTTCAGACACCATCATATGTTATAGAAAATGTTATTCTTTTGTTCTAATGGAAACTTTATTATGATTTCCAGGGATGCTAAATATGCACACATCAGTTCCTGCAGATAGGAACAGATAGCATGGGTGTTTCAACCATCTGCTTTAAAAAAAAAAAAAAAAAAGAAGAGGAAGAAAGAAACAAAGAAAGAAAAAGAAAAAGAAAAAAAGTGACAGCTAGTTTGATAGTAGGCAGCATTGCCTTACATTTTCTGGTCCTTCTCTAGCTGTTTCATTCTCCTGACCAACCCATGCAGAGAAATGAAGAAACATTGTGGTTCCTCCTATCTTTCTCTTTCAGTCTTTCCCTCTAATGTTCAAGTTAGGTAAGCACATAACTATCATTGCATCTCTGTATCTTCCACTGGGAAGTGTCAAAACTACTGGCCTTGGGGTAGAAGGAAGACCACCAGAGAAAGAGAGGGGGGTGGGGAAATTGGAGCAGGTGTGTCTCTCCACCTAAAAAACCACAACTGAGCTTACACCACAGTATTCCGGTGTCTGTAAGGTGGAGGCGGCAGCACAGTGCCTGGCTTCAGGGAGAACTCAGAGAGGTATTCAGGATTCTCTGCCACAATAGGCCAGATCCGCCCATTCTGTTTATAAAAATATTTTGTGCTGTACTCCTGCAGGTAGTCTGGGTGCTGAAGGGTGCTCCGAGGTGGCAGGCTGTGGTTCCAGTAGTCAGGGTTGTCAAACGCTTTCTTGGCCTTCTCTGGCATTGACAGTATGTTGTTCTTCAGGTACTCAGCTTTTCCCAAGGTGTTGGCAAAGGTGTTGAGGTACAGTGGCTCATTCACATACTCATCCTCGGCCTTGGGTGGACCATTGGATGCATTGTGATATTCGGGATTATCCAATGCTTGAAGGTCTCCATTTTTTCTCCGAGAAACAAAAGGGTTCTCCTCCACTGGATTCAGGTATTCTAAAGGAATAAAAAAATATCAGCTAACCTCTAGTTTCTGGAAAATATTAATCAGACCAAGGTTATACATAATGGTTAGCTTCTTTGTCTAGAACAAAAAAACCCACAGATTTGTTTTCATGATTTCTCACAACAAGTATTTGTGGATCACCATTGTCTTATGAAAAAAAGAGTAAGTGGGTCAAAAATGTTTATAATAAAACAAGAAGCCAACGAGGCCAGAATCAGAATTTCTATCTCCTAAATTTTTCTTTCTTTCTAATTGCATTTGTCTCTTCTGCATATGGGGCTGGTTGTTTCAATGTTTTTGTTTTCTAAAAGTTATTTATATTAGGAAATAAGACTACCTATTAGGATTAAATAGTCTTTAAATATACAGACAACTTAACTTCTATAAAGGATATTGAAAAAACAAGAATCTATAGCTGAGTTCCATGCCAAGATGAATAGATGGAGTGAAGAAATCATGTTTTTTAGTCTCTATGGTTTGCTATGATTGCCTATACTGGTAACAAGGATTTAATTGGAGATGCTTCTGAAAAAGGTTTTACACATGGAAAAGAAAGCATCAAAGGAAAAAAATTCAACTAAAAAAGCAAATCTAACAGATAGCTAACATGCCTCTAGTTGACCTGCTTGACATTACATATACTTCTACTTAATAGTAAAGTATAATTATAATATTTCCATTGACCAATCATAATCACAAAGTAGCAAACTATCAGCTTGAATTATATAAAATAAAATAAATTTTGTATATTGAAACCAGTCAATTAGTGCCTATTTTGTACGGATCAATCTAATAAATCCATCTAGTATAGGTATTGGCCTAAAAGGTGCTAATAATTATCACCATTCTCCTGAAGCTTAATTCCACATCTATGTCTATAATATAGACTGCACATAGACATAAACACGCATGTATTGTAAGTCCTCTGACAGTCCTCTCTTTTACTATATACACAAAGCCCTAAGCTATTCCTATTTTGAATTCAAGGCATGAAGAGGGCACAATTCTTTGTTGAGAGGCCATTCTGAAACAAACTTTCTGTCTTTTATCCTTAGCCCAATAAGTAGAGAGAAAAATCCTATTAAGTGAGGATTATTTTTCTCCAAATATATATATACAGAATAGGTAAGTATTTAGCATCATTTATTCAACTTAAAGGGCAGTAATGAATATCCCACTATCATATATAGGCCTTTACAAGACACTATCATTTCATCCTCCCAATTCTGTGAAAAAGAAGTACAAGACTTATTTTTCCAGCTTTGTAGACAGAAAAATGAGATTAAATGATGTGTGCAGGATACAATTAGTGTTGGGATAGAATTCAGGTCTTCTAACTCCTCTTGCATAATCTTCTTATTCTACTGCACTGTTTTTTATTATTGCCCCTGCAGGAGTTGGGTGAACTTTATGCTTAGTAACAAGTTTTAATTTGACAAGTGTATGAAAACATTTATAAGGAATGCAGAATTTGGTCTCTCTTACCAGATTCCTTAAACTTCTTAATTGAAAGAATAGGAATGTCTACACTAAAATTCTGTACTCTCTGAGTACGAGGTTAGACTATAGCAACCTTTTATAGAAACGGAGCTTAGTGTTCAGAGATAAAATCTGAGAATACAGTGTGACTCTATAGGGTGACTTGCTTTTCTCTTCACCTTACCTTTCCTCAATGCAATCTACTTATATATTGTCC 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Task1_train_5405 | The gene ERBB4 (erb-b2 receptor tyrosine kinase 4), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GAAAAATGTTGTTTTAATCGTAATGATCTGAGAAAGAAAGCAAGCTAGTGAAAGAAACGACTCAATTGGTAAGGCTTTATCGGTCTCTTTGTTGATATTCATAACTAAATGTAATGTACTGTAAAACAAAAGATAAATTTTTTCTCTGATGTGTATAGACGTGACTGCAATATAAGTTATTATTTTGTATTAGGAGTGACATAGGAGAGAAGATTTGGTTACAATGCTTACACTGGCACAAACGGGAAAAGAGGAATTAAAAGCAACTTTCTTGTGCTACATTTGTCCTGGTGGACAAAAAAAAAAAAAAAAAAACTAATGCAAAGTGATTGGTAATGCCTGTTCAGCAATAGACATTAGCTTATCTTAGTACTAGCTTGTCTAGTATAAAAATACTATCAGCAATTTTCAAGGTATGTATTCTTATTTAGCTGGGAGTCTAGATAAAGCAGACCTTATCTCTACAGGCTCTGTTTAGCTAATGAGATGACAAGAATAAAAGTATCAAGCTTTCCTTGATTTTCTTGCCAAATTATCCTCTTCTTAGGTATTAAAACCCCGAAAGAAAGGTAAAATTCTCCATTAGGGAAAGTGTTTTCTTGGTTTTACATAATTAATTTCATCAGAGCTAAATTCTGATGAGTTTAAATCATTTCCTATGCTAGTTACAGGATTAAATTATATAAGACATGCATGTTTTTAAACTTTCTTCCATAGATGTCTACCAAACAATATTTAATAGAATAAGGCTGTAAAGCTTGTTCCTTCCTTTTCCGGGAGTTCAGTTTTTATTCCTATTCTGGGAATTTTTTGGGTGTCATTTTATGTATCATTAATGTCATCTGCTTTTTTTCTCCCCAAACAAAGCTCAAATGCTCTGTATTCTATATGCATTCATTTGAAAAAATGCTTGCTAATGCCAAGATGCTAATGAGAAAACAGGTGTTTCTGAAACTATTGAAGCCAAAAAAGGTTAACCACAGTTGAGGTATCGGTTTCTTTCCAACTAAATATTGAGTAAATAGAACTATGCTTAGTGAAAAGGGCAGGCTGACCTGAACTGCAAAGAACATTTTTTATTTCCTCCCTCACTGTCAGAATGTATCACACATGTCATGAATATAAATCTGAGTAGACCTGGGTCCAAAGTCTCTTATTAATAAGATGCTTATTCACCTTCACAAGTTTGTTTCTTTGCTAACCCCGTGTAAATCAGAAGGGGAAAGCCTTAGATTATACAAGAGAGATTGCTGCATGTTAATCTCACTTAAATTAAGCCAGAAACTCCAGAGACTTCCTCAATTCTATTTAAATTAAGGGCCTGTGCTTCAAAAACACATTTATAATACATATGTGTCTGGGACATAGGAAGAAAAAAGAAAAGTAAGAGTTTGATGTAAACAAATGATCAAATTGAAAAAAGTAAACATTTATAATCTTTTTAGCTCACTATAGATTCATTTCTTCCCACTTCCCACCTTGTCCTGCTAATTTGCTCCTGACTAAAACCAGTAGACCTATTTCTATTAAATTAATTTTTAAAACTGTCAGTTTCAAGCTTTTTTCCTTCATGTTTAGATCATTTATGTAGCCTGATATTTTCCCATAAAGGTCACTAATGTTTGATATTTTCCCATAAAGGTCACTAATGTTATTACTAACATTCATGTTAGTAATGTTAGTAATAACATTATTGTGACTAATTACCTCTCTTTACGACAGGCAATTTGACTGTCATGGAGATTATAAGAATAAAAGAGTCATAATTTTGACTTCATAGCATGGAAGAGTATTACTTTATATTAATAATAGTCACAACAAAGAGGCGTTCATATGTTCCTTTCATAATTGTTTTTGAACTGTCGTATTTTTCAATACAGAGAAATGTTGTACAGATTGAGTAATCTCTGCTATTACTTTACTAAGAATGATGATGGTGATAACATTATTTTGCAGTCTTACATTTGACCATGACCATGTAAACGTCAATAGTGCAGATGGGAGGCTGAGGCAAACGTTCTCCTTTCTCTAATAAATCAGGGATTTCTCGCGTTGGAATTCCATCATAGGGTTTTCCTCCAAAGGTCATCAGTTCCCATATAGTAACTCCTATATTGGAGAAAAAATTCTTACTTAAGCATATTAACAACATATGTTGAACAAACCAGCACTATACCAGTAGTAAAAGAATACTCCTTACAGGTCAATCCAAACACCAATCAATTAAAAAAAAAAAAGCTCCATAAATTCCTGCATCCATTATGAGAACCCCAATGTCAAAATCTTTGTGGGGGAATTCAATTTTCTTATTATTGTCTTGGAATTTCTAATGGATAGAAGAGACAATTTACAGTGGATGTCAGCATATAGAATCTGTTCCCCATTTCTGCCTATAGGTAACACTAATGTTTGCTGATCCAAGTTATACCACGTTACAGTCCATAAAACAATTCATCTACTATATATACATATGTATTCAGTACCAATAAATATGCTTTTGCCAGTAAAATAAGATATTGACTAATTTTAAGATCAGCATCTTTGCTATAAAAGGCTTCCAGAATAATTACCTTATGTTACAATAAAGAATTGTGACTCTCTCTAACTTACACAAAGAAAACAGTTGAATAAAACATAGACTTCTTTAGCACATATGAGAGCCTGAGAGAGGAATGTTCCATACGTAATATATAGTACATGTGAAGTAGTCACCAACAAAATTGTGAAGGGGATAGAAAGTAGTTTATTTTTTAGGTAATAAAATGGCTTTCTTGAATCACTGGGACATTGATTTTCTCTGCAAAAGCAAATACCCTAAATGGTAGCATGCAAACAGCCAGTTTTGGTGATAATGATGGTTCTGATTTGAGCAATAATATATACACTAAATATCTTTTTTGTAATGTAATGATTATATAATTTAAGATAATATTTTCTTAGGGATAAAGATTTTTAAGTTCAGACATGGCTAGCTGGGCACAATAATATTACAAAGTGAATTTTGATTGATGTGTATATACAGTCATCTTTCAGTATAAAATCCATTAATTAGAGCTATGTTTTCTTTCCTATTGCCATCTGTAATGAATTATTTACTCAGGCTGAAGTATTTTTTAGTTTATAACAGTTATCATTGACTGATAACAAAAATACAAAGCTTAAAATATAAAACTATGTGGAATTTAAAATTATTCTTTCTAATAGAATATTAACTATTACCTGATTTTTTTGGTTAATATTTACATCTTAGGATTTTAGGTATATTGTTAACATGTACCTAGTGACAATTTAATTGACTGATTGTTATTACATCTTTAATTTTGTATATTAAGGAGAAGCTCCTAAAATCTATCATAAAAATTTTCTATGAGGCAGGCTGCAACAAGTTAAGTGGATGACTGTTCATCTCTAGATAGTCATACTTACAGAATATATATATATGTTTTATATTTTAGAATATTTTATATTTAGAATAGTTTATATTTTAGAATTATCTATTTTGTATTTTAGACAGGGTCTCAATCTGTCACTCAGAATGGAATGAAGAGGCATGATCACAGCTCACTGCACCCTCAACTTCCCCAGGCTCACATGATCTTTTCACCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATGAGCCACCATGCCTGGCTGATTTTCGTATTTTTTAGTAGATAAAGGGTTTCAGCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTTGAGCCATCTGCCCACATCGGCCTCCCTAAATGCTAGGATTACAAGCACGAGACACCGTGCGGGGCCTAGAATATATATTTAAGGAGAACACTTTATTAACTTAGGTAGGTAGTTATAAAAGATAGAGTAGATACTCTCACATTTCTAGCAGAACTCCCAACATAAGCAAGATACAAAGCAACTGTAAATCAAAATAATAGAAAATATAAAATACAAAAACAAAAGCCAAAATATAAAAAACTCTACTTCTTCTGATAATAATCCAATTATATCCTTGTAAAGGTGATGACAAGATAGGGTTAGAAAAGGATGGTTTCAAGCAAAAGAACAATGTCAGGAAAGCTAAAACAAAACATCCTCGAATTTTACTT 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GAAAAATGTTGTTTTAATCGTAATGATCTGAGAAAGAAAGCAAGCTAGTGAAAGAAACGACTCAATTGGTAAGGCTTTATCGGTCTCTTTGTTGATATTCATAACTAAATGTAATGTACTGTAAAACAAAAGATAAATTTTTTCTCTGATGTGTATAGACGTGACTGCAATATAAGTTATTATTTTGTATTAGGAGTGACATAGGAGAGAAGATTTGGTTACAATGCTTACACTGGCACAAACGGGAAAAGAGGAATTAAAAGCAACTTTCTTGTGCTACATTTGTCCTGGTGGACAAAAAAAAAAAAAAAAAAACTAATGCAAAGTGATTGGTAATGCCTGTTCAGCAATAGACATTAGCTTATCTTAGTACTAGCTTGTCTAGTATAAAAATACTATCAGCAATTTTCAAGGTATGTATTCTTATTTAGCTGGGAGTCTAGATAAAGCAGACCTTATCTCTACAGGCTCTGTTTAGCTAATGAGATGACAAGAATAAAAGTATCAAGCTTTCCTTGATTTTCTTGCCAAATTATCCTCTTCTTAGGTATTAAAACCCCGAAAGAAAGGTAAAATTCTCCATTAGGGAAAGTGTTTTCTTGGTTTTACATAATTAATTTCATCAGAGCTAAATTCTGATGAGTTTAAATCATTTCCTATGCTAGTTACAGGATTAAATTATATAAGACATGCATGTTTTTAAACTTTCTTCCATAGATGTCTACCAAACAATATTTAATAGAATAAGGCTGTAAAGCTTGTTCCTTCCTTTTCCGGGAGTTCAGTTTTTATTCCTATTCTGGGAATTTTTTGGGTGTCATTTTATGTATCATTAATGTCATCTGCTTTTTTTCTCCCCAAACAAAGCTCAAATGCTCTGTATTCTATATGCATTCATTTGAAAAAATGCTTGCTAATGCCAAGATGCTAATGAGAAAACAGGTGTTTCTGAAACTATTGAAGCCAAAAAAGGTTAACCACAGTTGAGGTATCGGTTTCTTTCCAACTAAATATTGAGTAAATAGAACTATGCTTAGTGAAAAGGGCAGGCTGACCTGAACTGCAAAGAACATTTTTTATTTCCTCCCTCACTGTCAGAATGTATCACACATGTCATGAATATAAATCTGAGTAGACCTGGGTCCAAAGTCTCTTATTAATAAGATGCTTATTCACCTTCACAAGTTTGTTTCTTTGCTAACCCCGTGTAAATCAGAAGGGGAAAGCCTTAGATTATACAAGAGAGATTGCTGCATGTTAATCTCACTTAAATTAAGCCAGAAACTCCAGAGACTTCCTCAATTCTATTTAAATTAAGGGCCTGTGCTTCAAAAACACATTTATAATACATATGTGTCTGGGACATAGGAAGAAAAAAGAAAAGTAAGAGTTTGATGTAAACAAATGATCAAATTGAAAAAAGTAAACATTTATAATCTTTTTAGCTCACTATAGATTCATTTCTTCCCACTTCCCACCTTGTCCTGCTAATTTGCTCCTGACTAAAACCAGTAGACCTATTTCTATTAAATTAATTTTTAAAACTGTCAGTTTCAAGCTTTTTTCCTTCATGTTTAGATCATTTATGTAGCCTGATATTTTCCCATAAAGGTCACTAATGTTTGATATTTTCCCATAAAGGTCACTAATGTTATTACTAACATTCATGTTAGTAATGTTAGTAATAACATTATTGTGACTAATTACCTCTCTTTACGACAGGCAATTTGACTGTCATGGAGATTATAAGAATAAAAGAGTCATAATTTTGACTTCATAGCATGGAAGAGTATTACTTTATATTAATAATAGTCACAACAAAGAGGCGTTCATATGTTCCTTTCATAATTGTTTTTGAACTGTCGTATTTTTCAATACAGAGAAATGTTGTACAGATTGAGTAATCTCTGCTATTACTTTACTAAGAATGATGATGGTGATAACATTATTTTGCAGTCTTACATTTGACCATGACCATGTAAACGTCAATAGTGCAGATGGGAGGCTGAGGCAAACGTTCTCCTTTCTCTAATAAATCAGGGATTTCTTGCGTTGGAATTCCATCATAGGGTTTTCCTCCAAAGGTCATCAGTTCCCATATAGTAACTCCTATATTGGAGAAAAAATTCTTACTTAAGCATATTAACAACATATGTTGAACAAACCAGCACTATACCAGTAGTAAAAGAATACTCCTTACAGGTCAATCCAAACACCAATCAATTAAAAAAAAAAAAGCTCCATAAATTCCTGCATCCATTATGAGAACCCCAATGTCAAAATCTTTGTGGGGGAATTCAATTTTCTTATTATTGTCTTGGAATTTCTAATGGATAGAAGAGACAATTTACAGTGGATGTCAGCATATAGAATCTGTTCCCCATTTCTGCCTATAGGTAACACTAATGTTTGCTGATCCAAGTTATACCACGTTACAGTCCATAAAACAATTCATCTACTATATATACATATGTATTCAGTACCAATAAATATGCTTTTGCCAGTAAAATAAGATATTGACTAATTTTAAGATCAGCATCTTTGCTATAAAAGGCTTCCAGAATAATTACCTTATGTTACAATAAAGAATTGTGACTCTCTCTAACTTACACAAAGAAAACAGTTGAATAAAACATAGACTTCTTTAGCACATATGAGAGCCTGAGAGAGGAATGTTCCATACGTAATATATAGTACATGTGAAGTAGTCACCAACAAAATTGTGAAGGGGATAGAAAGTAGTTTATTTTTTAGGTAATAAAATGGCTTTCTTGAATCACTGGGACATTGATTTTCTCTGCAAAAGCAAATACCCTAAATGGTAGCATGCAAACAGCCAGTTTTGGTGATAATGATGGTTCTGATTTGAGCAATAATATATACACTAAATATCTTTTTTGTAATGTAATGATTATATAATTTAAGATAATATTTTCTTAGGGATAAAGATTTTTAAGTTCAGACATGGCTAGCTGGGCACAATAATATTACAAAGTGAATTTTGATTGATGTGTATATACAGTCATCTTTCAGTATAAAATCCATTAATTAGAGCTATGTTTTCTTTCCTATTGCCATCTGTAATGAATTATTTACTCAGGCTGAAGTATTTTTTAGTTTATAACAGTTATCATTGACTGATAACAAAAATACAAAGCTTAAAATATAAAACTATGTGGAATTTAAAATTATTCTTTCTAATAGAATATTAACTATTACCTGATTTTTTTGGTTAATATTTACATCTTAGGATTTTAGGTATATTGTTAACATGTACCTAGTGACAATTTAATTGACTGATTGTTATTACATCTTTAATTTTGTATATTAAGGAGAAGCTCCTAAAATCTATCATAAAAATTTTCTATGAGGCAGGCTGCAACAAGTTAAGTGGATGACTGTTCATCTCTAGATAGTCATACTTACAGAATATATATATATGTTTTATATTTTAGAATATTTTATATTTAGAATAGTTTATATTTTAGAATTATCTATTTTGTATTTTAGACAGGGTCTCAATCTGTCACTCAGAATGGAATGAAGAGGCATGATCACAGCTCACTGCACCCTCAACTTCCCCAGGCTCACATGATCTTTTCACCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATGAGCCACCATGCCTGGCTGATTTTCGTATTTTTTAGTAGATAAAGGGTTTCAGCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTTGAGCCATCTGCCCACATCGGCCTCCCTAAATGCTAGGATTACAAGCACGAGACACCGTGCGGGGCCTAGAATATATATTTAAGGAGAACACTTTATTAACTTAGGTAGGTAGTTATAAAAGATAGAGTAGATACTCTCACATTTCTAGCAGAACTCCCAACATAAGCAAGATACAAAGCAACTGTAAATCAAAATAATAGAAAATATAAAATACAAAAACAAAAGCCAAAATATAAAAAACTCTACTTCTTCTGATAATAATCCAATTATATCCTTGTAAAGGTGATGACAAGATAGGGTTAGAAAAGGATGGTTTCAAGCAAAAGAACAATGTCAGGAAAGCTAAAACAAAACATCCTCGAATTTTACTT 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Task1_train_5406 | The variant affects gene BARD1 (BRCA1 associated RING domain 1), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary cancer-predisposing syndrome | TTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGCTCGAAGGAGCCTTCCAGACTTTGCCCTGCCGAACCCTCTCTGGGTGATAATTACACAAATCTTCATAGATGATATACTGTGTGCAGAAGCGCTGATCAGAATCGGGTCTCGCATGGTATGCGACTGTATTGATGGTCTGAGTCACGTCACTGTCTGGCTTGGGCTTTCTACTGAGGATCTGGCCCCCACCTGCAGTGACGAGCTTAATAAGGTTGTCCTTTGGATGGTGTTTGAAGGTTCCCCACAAATAGAAGTAGCATCCATCAAACAGCTTTGGCAACTGAAATAATGAGAAAACATTTGTTAAAGGCAGATCAAAATACTGTATTCAAAAACACTGTATATGAATGAGGAAAATAAAAATACAAGTTGAATATCCCTTACCTGAAACATTTGGAGGAGAAGCATTTCAGATTCATAAATTTTTTGGGTTTTGGAAAATTTGCATATACATGAGGTATCTTAAGGATGAGGCTCAAGCCTAAACACAAAATTCGTTTGTTTCTTGTACACCTTATGCACATAGCCTGAAGTAATTTTATACAATATCTTCAGTAATTTTGTGCATGAAACAAAATTTTGACTGTGTTCTGACCGTGACCTGTCACATGAGGTCAGGTGTGGAATTTTCCACTTGTGGCATCATGTCAAAGCTCAAAAAGTTTTGGATTTTGGAGCATTTTAGATGTTGGATTAGGAATGCTCCATCTGTAACAATTATGAGCAGCTAAGAAGCTACTTAATGAGGTGCTGGGACAAGTTATATTTCAAGCATACTAACTGGATCAAGAAAAATACTTAGGCAAATAGGGGCTTCCTATTTACAATTTTTTCCCTAAGATTCAGTCACCATCTCGGTTCCTTTTCACTCTTCTAAAATTTTAGATATGCTTGGTATAAAGAAAAAAACAAACTATTCATCAAACTTTTTTCATCAGGATGTTTATGCTTATTTGGTGGGACTTAAAGCCTCCACAACTCCTAGCTTATTTGAAATAGGCTTCAGAGACACCAGGCTAAACATTATTAAATTACAAGAGTAACATCTTTTCCGTGGACTTTTATCCAATTCTGCCCATCCACATTCAGGTCCTTACATATTACCAACCTAAGGTCTCCAGGGCAGCCACCATGGGGGTGTGCCCTCCAGGGTTCCAGAAATGTATTCACGGGGCACAAAAGATTTTTGTGCTGAGGCTAGGGATCCAATTAGCTATGAAACATACTTCCGTATGCTCGTTGGAAATAAAAAAAGTTTCATAATTCCCTTCTATGGAAATTTTCTTTGTGACTTCTAATATACTTATATAATATCAACAGGATAATGCGATATTATCCATTAAAGCTACAATATGTGGCCATAGAGACATATGGTAACTAAATCCAAGCAGCAGCTGTAAGTCTTCTTTCAAGCTACTTCCTGTATCTGAGATTTACCTCAGATTCTGAAAGGTTTATGGCAATGTTCAAGATGCCAAAAATCCATTAACAGTATGAAATTATTACCTTCTGGATTTTACTGCTCATCGTGATCATCTTTCAGAATCAAGTGCTTGAAATAAGCACAATTAAAATTTTAATCAGTCACCTGTAGCTGTTGAAAGGGCAGAAGTTCTTCCTGATGGTGATAATAATAGTATGTCATAATAAGAACAATGAAAGTTGTATTAAAAGAAAAATACCAGCTGTTCTCTGTTGAGCCTGCTTCTGCGTGGACCTTCAGGAATTTCATACTTTTCTTCCTGTTCACATACTTTTCTTCGTAGACATGCTTTTACCCCTGACAAAAACACAAGAATTAAAGCAAACTAAGTATCAAGTGAGCACTATATCTCTCTCATTAAAATCAAGCAATTTACCTAAGTGGTTTTTCTTCTTCATGGCAGTTTTTAAGTATTATTCTAAAATGCAAACAGAAATCTTACTTATGCCAAAACAAAATGTAATACAACTGGTTTTCCCATATAAAGAAAATATTTTAAAAAACTCTTTCTTTGGAGGATTAAGCCATAAGTTAGTACTGAACACTAACTGTAATTTTAATCTCCTTTCTGAAAAACCTAAGCCAGGATACTATTTCAAAGACAAAAATAAAAGTCTACATTTCCACTCATAGCAATTACCCAAAATTAAGGTGAATAAAAAGTCCATGACACAATAACCTAAACTGAGCACTTACCATCTATACTGCTCATTTTGACAGTTATATGTCTAATCGTCTGTTAAACTGTAAGTGATTTGACATGAAGGAATGTGCTTTAGTCTACAGCACCAAGCTCAGCTAGCCACACAACAGGGGTTCAACAGCGCTTCCTAAAATAAACAAGCAGAGCTTGGGATAGGTTTGGCATGTGACAGGTACACAACTGAGGTTGCTAGTCTAGAGATGATTTGATTGGGCTTTGCAGGAAAAAAAAAAGCATTCTTTTGATGGCTTGAGTAAGTCTGTTCACAGCTTCAGGTTAAAAAGCAAAAGCAATAGAGACAGCTCAGCCTGGCACTGTTTAGAGTCATTCCACTGCTTGGCACCTGGGTGGGGAATCCCTAAGTAGGGCCACTGGCTGGCAGCCAGTACCAATTGTCTCGCTAGGCTCTAGAAATGAAAGGAACCCTTGGGATTCCCAGGACCAATCATGAAGGACATGGTCAGCTTCAGCTAGAGACAACATCTTGGATAATGCCTGTTTACCACCAAGCGAGGGAACTGATGGCATGTATATATATTTATCATGCTTCTGTTCTGATGGCATATAACTAAACTAAATTTGAGATTTGCAGTTGAAGGACTTGGCTATCCCAATTACTTGTTCTGGAAGCTTCCTTGCCTATGGAAATAAAAAATGAAAACAATGTTTTTCACCGGGCTTCTGTGGATAAAATGCAAGAAGCATTCTAAAAACTAGATACTACAATGAATTATCTTCATCATAAAAACAAACCCTCCATACAATTTCCTATTTGTCTTTGAGGTTGTTTTGCTCAATACTTCATTTTATCACTGAGGGTAGGAACCATATATTATTCACCTATGCGTTCTTCAGAATTTCATACACTTTCCCATAGAACAGGAGTTTAATAGCAGAGGGTATCGGGAAAGTTGGAACAATAACTCAGGTATCCCCTTCACTGTCTAGTGTTGTTAACATAAAGGAACAAAAGTTTTTAAAAATTCACTATGGACACAGCATTGACAGATTGTATCCACATCAATAAAAATAAGTAATTATATAGCACCTGTAAGAGTTCAGAGTTACACATAGTTTTGAATATCAAACTGTTACATCCTGTTATCACTTGATATCTAATGGCTTAAAATGATCAGAAAAAAATCTATGGCTGCATAAACATATACTTTATATTGAGGATTAGACATATATGTTGGATATACTACAGTGTTTTGGAAACCTCTTGAAAAATGCTAGTGATAAAGTTTTGTCCAGCTGATCCCTACTTACTTCAACAGTAAATTGATTCCAACACAGGAGCAGAACCACTACTCGGCATGTAAACTGCATATGCCTGCAAAAGGGCTCCTTTCTTGACTAAAGGGTGGCTAAGAACCAACAGTTAATCTGCTACCCAGAACTGTCCTGCGATTGCATCTAATATAAATTAAGATTCAGTTGTGTATGAGTAAAATGTCTTTTGACCTATGATGATTTTTTTTTCTTTTTTTTTTTTTTCTGAGACAGAGTCTTGCACTGTCACCCAGGTTGGGGCGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCTTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGTC | TTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGCTCGAAGGAGCCTTCCAGACTTTGCCCTGCCGAACCCTCTCTGGGTGATAATTACACAAATCTTCATAGATGATATACTGTGTGCAGAAGCGCTGATCAGAATCGGGTCTCGCATGGTATGCGACTGTATTGATGGTCTGAGTCACGTCACTGTCTGGCTTGGGCTTTCTACTGAGGATCTGGCCCCCACCTGCAGTGACGAGCTTAATAAGGTTGTCCTTTGGATGGTGTTTGAAGGTTCCCCACAAATAGAAGTAGCATCCATCAAACAGCTTTGGCAACTGAAATAATGAGAAAACATTTGTTAAAGGCAGATCAAAATACTGTATTCAAAAACACTGTATATGAATGAGGAAAATAAAAATACAAGTTGAATATCCCTTACCTGAAACATTTGGAGGAGAAGCATTTCAGATTCATAAATTTTTTGGGTTTTGGAAAATTTGCATATACATGAGGTATCTTAAGGATGAGGCTCAAGCCTAAACACAAAATTCGTTTGTTTCTTGTACACCTTATGCACATAGCCTGAAGTAATTTTATACAATATCTTCAGTAATTTTGTGCATGAAACAAAATTTTGACTGTGTTCTGACCGTGACCTGTCACATGAGGTCAGGTGTGGAATTTTCCACTTGTGGCATCATGTCAAAGCTCAAAAAGTTTTGGATTTTGGAGCATTTTAGATGTTGGATTAGGAATGCTCCATCTGTAACAATTATGAGCAGCTAAGAAGCTACTTAATGAGGTGCTGGGACAAGTTATATTTCAAGCATACTAACTGGATCAAGAAAAATACTTAGGCAAATAGGGGCTTCCTATTTACAATTTTTTCCCTAAGATTCAGTCACCATCTCGGTTCCTTTTCACTCTTCTAAAATTTTAGATATGCTTGGTATAAAGAAAAAAACAAACTATTCATCAAACTTTTTTCATCAGGATGTTTATGCTTATTTGGTGGGACTTAAAGCCTCCACAACTCCTAGCTTATTTGAAATAGGCTTCAGAGACACCAGGCTAAACATTATTAAATTACAAGAGTAACATCTTTTCCGTGGACTTTTATCCAATTCTGCCCATCCACATTCAGGTCCTTACATATTACCAACCTAAGGTCTCCAGGGCAGCCACCATGGGGGTGTGCCCTCCAGGGTTCCAGAAATGTATTCACGGGGCACAAAAGATTTTTGTGCTGAGGCTAGGGATCCAATTAGCTATGAAACATACTTCCGTATGCTCGTTGGAAATAAAAAAAGTTTCATAATTCCCTTCTATGGAAATTTTCTTTGTGACTTCTAATATACTTATATAATATCAACAGGATAATGCGATATTATCCATTAAAGCTACAATATGTGGCCATAGAGACATATGGTAACTAAATCCAAGCAGCAGCTGTAAGTCTTCTTTCAAGCTACTTCCTGTATCTGAGATTTACCTCAGATTCTGAAAGGTTTATGGCAATGTTCAAGATGCCAAAAATCCATTAACAGTATGAAATTATTACCTTCTGGATTTTACTGCTCATCGTGATCATCTTTCAGAATCAAGTGCTTGAAATAAGCACAATTAAAATTTTAATCAGTCACCTGTAGCTGTTGAAAGGGCAGAAGTTCTTCCTGATGGTGATAATAATAGTATGTCATAATAAGAACAATGAAAGTTGTATTAAAAGAAAAATACCAGCTGTTCTCTGTTGAGCCTGCTTCTGCGTGGACCTTCAGGAATTTCATACTTTTCTTCCTGTTCACATACTTTTCTTCGTAGACATGCTTTTACCTCTGACAAAAACACAAGAATTAAAGCAAACTAAGTATCAAGTGAGCACTATATCTCTCTCATTAAAATCAAGCAATTTACCTAAGTGGTTTTTCTTCTTCATGGCAGTTTTTAAGTATTATTCTAAAATGCAAACAGAAATCTTACTTATGCCAAAACAAAATGTAATACAACTGGTTTTCCCATATAAAGAAAATATTTTAAAAAACTCTTTCTTTGGAGGATTAAGCCATAAGTTAGTACTGAACACTAACTGTAATTTTAATCTCCTTTCTGAAAAACCTAAGCCAGGATACTATTTCAAAGACAAAAATAAAAGTCTACATTTCCACTCATAGCAATTACCCAAAATTAAGGTGAATAAAAAGTCCATGACACAATAACCTAAACTGAGCACTTACCATCTATACTGCTCATTTTGACAGTTATATGTCTAATCGTCTGTTAAACTGTAAGTGATTTGACATGAAGGAATGTGCTTTAGTCTACAGCACCAAGCTCAGCTAGCCACACAACAGGGGTTCAACAGCGCTTCCTAAAATAAACAAGCAGAGCTTGGGATAGGTTTGGCATGTGACAGGTACACAACTGAGGTTGCTAGTCTAGAGATGATTTGATTGGGCTTTGCAGGAAAAAAAAAAGCATTCTTTTGATGGCTTGAGTAAGTCTGTTCACAGCTTCAGGTTAAAAAGCAAAAGCAATAGAGACAGCTCAGCCTGGCACTGTTTAGAGTCATTCCACTGCTTGGCACCTGGGTGGGGAATCCCTAAGTAGGGCCACTGGCTGGCAGCCAGTACCAATTGTCTCGCTAGGCTCTAGAAATGAAAGGAACCCTTGGGATTCCCAGGACCAATCATGAAGGACATGGTCAGCTTCAGCTAGAGACAACATCTTGGATAATGCCTGTTTACCACCAAGCGAGGGAACTGATGGCATGTATATATATTTATCATGCTTCTGTTCTGATGGCATATAACTAAACTAAATTTGAGATTTGCAGTTGAAGGACTTGGCTATCCCAATTACTTGTTCTGGAAGCTTCCTTGCCTATGGAAATAAAAAATGAAAACAATGTTTTTCACCGGGCTTCTGTGGATAAAATGCAAGAAGCATTCTAAAAACTAGATACTACAATGAATTATCTTCATCATAAAAACAAACCCTCCATACAATTTCCTATTTGTCTTTGAGGTTGTTTTGCTCAATACTTCATTTTATCACTGAGGGTAGGAACCATATATTATTCACCTATGCGTTCTTCAGAATTTCATACACTTTCCCATAGAACAGGAGTTTAATAGCAGAGGGTATCGGGAAAGTTGGAACAATAACTCAGGTATCCCCTTCACTGTCTAGTGTTGTTAACATAAAGGAACAAAAGTTTTTAAAAATTCACTATGGACACAGCATTGACAGATTGTATCCACATCAATAAAAATAAGTAATTATATAGCACCTGTAAGAGTTCAGAGTTACACATAGTTTTGAATATCAAACTGTTACATCCTGTTATCACTTGATATCTAATGGCTTAAAATGATCAGAAAAAAATCTATGGCTGCATAAACATATACTTTATATTGAGGATTAGACATATATGTTGGATATACTACAGTGTTTTGGAAACCTCTTGAAAAATGCTAGTGATAAAGTTTTGTCCAGCTGATCCCTACTTACTTCAACAGTAAATTGATTCCAACACAGGAGCAGAACCACTACTCGGCATGTAAACTGCATATGCCTGCAAAAGGGCTCCTTTCTTGACTAAAGGGTGGCTAAGAACCAACAGTTAATCTGCTACCCAGAACTGTCCTGCGATTGCATCTAATATAAATTAAGATTCAGTTGTGTATGAGTAAAATGTCTTTTGACCTATGATGATTTTTTTTTCTTTTTTTTTTTTTTCTGAGACAGAGTCTTGCACTGTCACCCAGGTTGGGGCGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCTTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGTC 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Task1_train_5407 | A genetic alteration is present in BARD1 (BRCA1 associated RING domain 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Familial cancer of breast | TTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGCTCGAAGGAGCCTTCCAGACTTTGCCCTGCCGAACCCTCTCTGGGTGATAATTACACAAATCTTCATAGATGATATACTGTGTGCAGAAGCGCTGATCAGAATCGGGTCTCGCATGGTATGCGACTGTATTGATGGTCTGAGTCACGTCACTGTCTGGCTTGGGCTTTCTACTGAGGATCTGGCCCCCACCTGCAGTGACGAGCTTAATAAGGTTGTCCTTTGGATGGTGTTTGAAGGTTCCCCACAAATAGAAGTAGCATCCATCAAACAGCTTTGGCAACTGAAATAATGAGAAAACATTTGTTAAAGGCAGATCAAAATACTGTATTCAAAAACACTGTATATGAATGAGGAAAATAAAAATACAAGTTGAATATCCCTTACCTGAAACATTTGGAGGAGAAGCATTTCAGATTCATAAATTTTTTGGGTTTTGGAAAATTTGCATATACATGAGGTATCTTAAGGATGAGGCTCAAGCCTAAACACAAAATTCGTTTGTTTCTTGTACACCTTATGCACATAGCCTGAAGTAATTTTATACAATATCTTCAGTAATTTTGTGCATGAAACAAAATTTTGACTGTGTTCTGACCGTGACCTGTCACATGAGGTCAGGTGTGGAATTTTCCACTTGTGGCATCATGTCAAAGCTCAAAAAGTTTTGGATTTTGGAGCATTTTAGATGTTGGATTAGGAATGCTCCATCTGTAACAATTATGAGCAGCTAAGAAGCTACTTAATGAGGTGCTGGGACAAGTTATATTTCAAGCATACTAACTGGATCAAGAAAAATACTTAGGCAAATAGGGGCTTCCTATTTACAATTTTTTCCCTAAGATTCAGTCACCATCTCGGTTCCTTTTCACTCTTCTAAAATTTTAGATATGCTTGGTATAAAGAAAAAAACAAACTATTCATCAAACTTTTTTCATCAGGATGTTTATGCTTATTTGGTGGGACTTAAAGCCTCCACAACTCCTAGCTTATTTGAAATAGGCTTCAGAGACACCAGGCTAAACATTATTAAATTACAAGAGTAACATCTTTTCCGTGGACTTTTATCCAATTCTGCCCATCCACATTCAGGTCCTTACATATTACCAACCTAAGGTCTCCAGGGCAGCCACCATGGGGGTGTGCCCTCCAGGGTTCCAGAAATGTATTCACGGGGCACAAAAGATTTTTGTGCTGAGGCTAGGGATCCAATTAGCTATGAAACATACTTCCGTATGCTCGTTGGAAATAAAAAAAGTTTCATAATTCCCTTCTATGGAAATTTTCTTTGTGACTTCTAATATACTTATATAATATCAACAGGATAATGCGATATTATCCATTAAAGCTACAATATGTGGCCATAGAGACATATGGTAACTAAATCCAAGCAGCAGCTGTAAGTCTTCTTTCAAGCTACTTCCTGTATCTGAGATTTACCTCAGATTCTGAAAGGTTTATGGCAATGTTCAAGATGCCAAAAATCCATTAACAGTATGAAATTATTACCTTCTGGATTTTACTGCTCATCGTGATCATCTTTCAGAATCAAGTGCTTGAAATAAGCACAATTAAAATTTTAATCAGTCACCTGTAGCTGTTGAAAGGGCAGAAGTTCTTCCTGATGGTGATAATAATAGTATGTCATAATAAGAACAATGAAAGTTGTATTAAAAGAAAAATACCAGCTGTTCTCTGTTGAGCCTGCTTCTGCGTGGACCTTCAGGAATTTCATACTTTTCTTCCTGTTCACATACTTTTCTTCGTAGACATGCTTTTACCCCTGACAAAAACACAAGAATTAAAGCAAACTAAGTATCAAGTGAGCACTATATCTCTCTCATTAAAATCAAGCAATTTACCTAAGTGGTTTTTCTTCTTCATGGCAGTTTTTAAGTATTATTCTAAAATGCAAACAGAAATCTTACTTATGCCAAAACAAAATGTAATACAACTGGTTTTCCCATATAAAGAAAATATTTTAAAAAACTCTTTCTTTGGAGGATTAAGCCATAAGTTAGTACTGAACACTAACTGTAATTTTAATCTCCTTTCTGAAAAACCTAAGCCAGGATACTATTTCAAAGACAAAAATAAAAGTCTACATTTCCACTCATAGCAATTACCCAAAATTAAGGTGAATAAAAAGTCCATGACACAATAACCTAAACTGAGCACTTACCATCTATACTGCTCATTTTGACAGTTATATGTCTAATCGTCTGTTAAACTGTAAGTGATTTGACATGAAGGAATGTGCTTTAGTCTACAGCACCAAGCTCAGCTAGCCACACAACAGGGGTTCAACAGCGCTTCCTAAAATAAACAAGCAGAGCTTGGGATAGGTTTGGCATGTGACAGGTACACAACTGAGGTTGCTAGTCTAGAGATGATTTGATTGGGCTTTGCAGGAAAAAAAAAAGCATTCTTTTGATGGCTTGAGTAAGTCTGTTCACAGCTTCAGGTTAAAAAGCAAAAGCAATAGAGACAGCTCAGCCTGGCACTGTTTAGAGTCATTCCACTGCTTGGCACCTGGGTGGGGAATCCCTAAGTAGGGCCACTGGCTGGCAGCCAGTACCAATTGTCTCGCTAGGCTCTAGAAATGAAAGGAACCCTTGGGATTCCCAGGACCAATCATGAAGGACATGGTCAGCTTCAGCTAGAGACAACATCTTGGATAATGCCTGTTTACCACCAAGCGAGGGAACTGATGGCATGTATATATATTTATCATGCTTCTGTTCTGATGGCATATAACTAAACTAAATTTGAGATTTGCAGTTGAAGGACTTGGCTATCCCAATTACTTGTTCTGGAAGCTTCCTTGCCTATGGAAATAAAAAATGAAAACAATGTTTTTCACCGGGCTTCTGTGGATAAAATGCAAGAAGCATTCTAAAAACTAGATACTACAATGAATTATCTTCATCATAAAAACAAACCCTCCATACAATTTCCTATTTGTCTTTGAGGTTGTTTTGCTCAATACTTCATTTTATCACTGAGGGTAGGAACCATATATTATTCACCTATGCGTTCTTCAGAATTTCATACACTTTCCCATAGAACAGGAGTTTAATAGCAGAGGGTATCGGGAAAGTTGGAACAATAACTCAGGTATCCCCTTCACTGTCTAGTGTTGTTAACATAAAGGAACAAAAGTTTTTAAAAATTCACTATGGACACAGCATTGACAGATTGTATCCACATCAATAAAAATAAGTAATTATATAGCACCTGTAAGAGTTCAGAGTTACACATAGTTTTGAATATCAAACTGTTACATCCTGTTATCACTTGATATCTAATGGCTTAAAATGATCAGAAAAAAATCTATGGCTGCATAAACATATACTTTATATTGAGGATTAGACATATATGTTGGATATACTACAGTGTTTTGGAAACCTCTTGAAAAATGCTAGTGATAAAGTTTTGTCCAGCTGATCCCTACTTACTTCAACAGTAAATTGATTCCAACACAGGAGCAGAACCACTACTCGGCATGTAAACTGCATATGCCTGCAAAAGGGCTCCTTTCTTGACTAAAGGGTGGCTAAGAACCAACAGTTAATCTGCTACCCAGAACTGTCCTGCGATTGCATCTAATATAAATTAAGATTCAGTTGTGTATGAGTAAAATGTCTTTTGACCTATGATGATTTTTTTTTCTTTTTTTTTTTTTTCTGAGACAGAGTCTTGCACTGTCACCCAGGTTGGGGCGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCTTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGTC | TTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGCTCGAAGGAGCCTTCCAGACTTTGCCCTGCCGAACCCTCTCTGGGTGATAATTACACAAATCTTCATAGATGATATACTGTGTGCAGAAGCGCTGATCAGAATCGGGTCTCGCATGGTATGCGACTGTATTGATGGTCTGAGTCACGTCACTGTCTGGCTTGGGCTTTCTACTGAGGATCTGGCCCCCACCTGCAGTGACGAGCTTAATAAGGTTGTCCTTTGGATGGTGTTTGAAGGTTCCCCACAAATAGAAGTAGCATCCATCAAACAGCTTTGGCAACTGAAATAATGAGAAAACATTTGTTAAAGGCAGATCAAAATACTGTATTCAAAAACACTGTATATGAATGAGGAAAATAAAAATACAAGTTGAATATCCCTTACCTGAAACATTTGGAGGAGAAGCATTTCAGATTCATAAATTTTTTGGGTTTTGGAAAATTTGCATATACATGAGGTATCTTAAGGATGAGGCTCAAGCCTAAACACAAAATTCGTTTGTTTCTTGTACACCTTATGCACATAGCCTGAAGTAATTTTATACAATATCTTCAGTAATTTTGTGCATGAAACAAAATTTTGACTGTGTTCTGACCGTGACCTGTCACATGAGGTCAGGTGTGGAATTTTCCACTTGTGGCATCATGTCAAAGCTCAAAAAGTTTTGGATTTTGGAGCATTTTAGATGTTGGATTAGGAATGCTCCATCTGTAACAATTATGAGCAGCTAAGAAGCTACTTAATGAGGTGCTGGGACAAGTTATATTTCAAGCATACTAACTGGATCAAGAAAAATACTTAGGCAAATAGGGGCTTCCTATTTACAATTTTTTCCCTAAGATTCAGTCACCATCTCGGTTCCTTTTCACTCTTCTAAAATTTTAGATATGCTTGGTATAAAGAAAAAAACAAACTATTCATCAAACTTTTTTCATCAGGATGTTTATGCTTATTTGGTGGGACTTAAAGCCTCCACAACTCCTAGCTTATTTGAAATAGGCTTCAGAGACACCAGGCTAAACATTATTAAATTACAAGAGTAACATCTTTTCCGTGGACTTTTATCCAATTCTGCCCATCCACATTCAGGTCCTTACATATTACCAACCTAAGGTCTCCAGGGCAGCCACCATGGGGGTGTGCCCTCCAGGGTTCCAGAAATGTATTCACGGGGCACAAAAGATTTTTGTGCTGAGGCTAGGGATCCAATTAGCTATGAAACATACTTCCGTATGCTCGTTGGAAATAAAAAAAGTTTCATAATTCCCTTCTATGGAAATTTTCTTTGTGACTTCTAATATACTTATATAATATCAACAGGATAATGCGATATTATCCATTAAAGCTACAATATGTGGCCATAGAGACATATGGTAACTAAATCCAAGCAGCAGCTGTAAGTCTTCTTTCAAGCTACTTCCTGTATCTGAGATTTACCTCAGATTCTGAAAGGTTTATGGCAATGTTCAAGATGCCAAAAATCCATTAACAGTATGAAATTATTACCTTCTGGATTTTACTGCTCATCGTGATCATCTTTCAGAATCAAGTGCTTGAAATAAGCACAATTAAAATTTTAATCAGTCACCTGTAGCTGTTGAAAGGGCAGAAGTTCTTCCTGATGGTGATAATAATAGTATGTCATAATAAGAACAATGAAAGTTGTATTAAAAGAAAAATACCAGCTGTTCTCTGTTGAGCCTGCTTCTGCGTGGACCTTCAGGAATTTCATACTTTTCTTCCTGTTCACATACTTTTCTTCGTAGACATGCTTTTACCTCTGACAAAAACACAAGAATTAAAGCAAACTAAGTATCAAGTGAGCACTATATCTCTCTCATTAAAATCAAGCAATTTACCTAAGTGGTTTTTCTTCTTCATGGCAGTTTTTAAGTATTATTCTAAAATGCAAACAGAAATCTTACTTATGCCAAAACAAAATGTAATACAACTGGTTTTCCCATATAAAGAAAATATTTTAAAAAACTCTTTCTTTGGAGGATTAAGCCATAAGTTAGTACTGAACACTAACTGTAATTTTAATCTCCTTTCTGAAAAACCTAAGCCAGGATACTATTTCAAAGACAAAAATAAAAGTCTACATTTCCACTCATAGCAATTACCCAAAATTAAGGTGAATAAAAAGTCCATGACACAATAACCTAAACTGAGCACTTACCATCTATACTGCTCATTTTGACAGTTATATGTCTAATCGTCTGTTAAACTGTAAGTGATTTGACATGAAGGAATGTGCTTTAGTCTACAGCACCAAGCTCAGCTAGCCACACAACAGGGGTTCAACAGCGCTTCCTAAAATAAACAAGCAGAGCTTGGGATAGGTTTGGCATGTGACAGGTACACAACTGAGGTTGCTAGTCTAGAGATGATTTGATTGGGCTTTGCAGGAAAAAAAAAAGCATTCTTTTGATGGCTTGAGTAAGTCTGTTCACAGCTTCAGGTTAAAAAGCAAAAGCAATAGAGACAGCTCAGCCTGGCACTGTTTAGAGTCATTCCACTGCTTGGCACCTGGGTGGGGAATCCCTAAGTAGGGCCACTGGCTGGCAGCCAGTACCAATTGTCTCGCTAGGCTCTAGAAATGAAAGGAACCCTTGGGATTCCCAGGACCAATCATGAAGGACATGGTCAGCTTCAGCTAGAGACAACATCTTGGATAATGCCTGTTTACCACCAAGCGAGGGAACTGATGGCATGTATATATATTTATCATGCTTCTGTTCTGATGGCATATAACTAAACTAAATTTGAGATTTGCAGTTGAAGGACTTGGCTATCCCAATTACTTGTTCTGGAAGCTTCCTTGCCTATGGAAATAAAAAATGAAAACAATGTTTTTCACCGGGCTTCTGTGGATAAAATGCAAGAAGCATTCTAAAAACTAGATACTACAATGAATTATCTTCATCATAAAAACAAACCCTCCATACAATTTCCTATTTGTCTTTGAGGTTGTTTTGCTCAATACTTCATTTTATCACTGAGGGTAGGAACCATATATTATTCACCTATGCGTTCTTCAGAATTTCATACACTTTCCCATAGAACAGGAGTTTAATAGCAGAGGGTATCGGGAAAGTTGGAACAATAACTCAGGTATCCCCTTCACTGTCTAGTGTTGTTAACATAAAGGAACAAAAGTTTTTAAAAATTCACTATGGACACAGCATTGACAGATTGTATCCACATCAATAAAAATAAGTAATTATATAGCACCTGTAAGAGTTCAGAGTTACACATAGTTTTGAATATCAAACTGTTACATCCTGTTATCACTTGATATCTAATGGCTTAAAATGATCAGAAAAAAATCTATGGCTGCATAAACATATACTTTATATTGAGGATTAGACATATATGTTGGATATACTACAGTGTTTTGGAAACCTCTTGAAAAATGCTAGTGATAAAGTTTTGTCCAGCTGATCCCTACTTACTTCAACAGTAAATTGATTCCAACACAGGAGCAGAACCACTACTCGGCATGTAAACTGCATATGCCTGCAAAAGGGCTCCTTTCTTGACTAAAGGGTGGCTAAGAACCAACAGTTAATCTGCTACCCAGAACTGTCCTGCGATTGCATCTAATATAAATTAAGATTCAGTTGTGTATGAGTAAAATGTCTTTTGACCTATGATGATTTTTTTTTCTTTTTTTTTTTTTTCTGAGACAGAGTCTTGCACTGTCACCCAGGTTGGGGCGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCTTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGTC 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Task1_train_5408 | A variant on Chromosome 2 in gene ABCA12 (ATP binding cassette subfamily A member 12) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | GCAGAGCAGCTATAGAGGCCATAAACCATTGCTTCCTCAATAGAGCTCTGTGGCTAATAATTTCAGCACTCCCTCTAAAAACAGGTTCAAATATAGCATTCTCTCCGAAAGCCTGCCACCACGCACACCTTCATAGGTGATAAAATGATGGTATTCATCAACTCTGCGTATATTTTAAGTTTTCCATCAGAAATTATGCAGCACAAAAATCATGATCTTCATTTAGCTGATAAGAAAAAATACAAAGCTGCTTAATTTAAAATGAATTCCAATTAAACAGAGTGAACAAGTTTAAATGCAAACTCATATCTCTGCAAAAGGGAACTGTAGAAGGAGCTGAATATTTTCAGTTAATTAGTATGCTTTTCTGTTTCTTGAGAAATTATATGTGGATGACTTACAGGTGTATCAAATGAAATAAATGTGCTTTCTAAAAGATAATGTCAATGAAGGGAACATTTGGACTGAAGAATAGTTTCAAATTATAAGACACATGCAGAGGCACATACTTAGCCTTTGCTTCCTGCAGCAGATGACCACTTTCTAATAAAAGTCCTCAATGCCATGGAGGCCACAATTATATTCCCCAAAAGAAAAGAAATGAGAACTATGACAGAGGACAAATTAGCCTCCAGTTCCAGAATTATACAAACATCAGAGATTATCTTTCCTGACTTTGAGAGCCAGGCAAATGTTTAATTAAAAGTTCTGTTCCTAGAGATTTTTTTCTGTAAGCAAAAACTGTTGAAATGACTACTCCATGATTTATATATCATTTTACTCTATGCTTCCTTAAGTAAATGGTGTTTCCAGAGGTATAAATTAACTGTCAGAAAGAGAAGAGACAATAAAAGTTATTTTCAAAAGAGCCCAATCCCACAAAGTCGTGTCAAGCAACATGATTTTTTAAGCATATCCTATGTTAAGGATTGGGGGAGGAAATCTACTATTACAGACTCTTAGCCATCAAGTCCAAATTAATTAACTCAGAAACTCTCCCCAAAAGCAGTTTCTCAGCACCTGAAAGACTCAGAGTCACGTAGGTTAGACATGTTTTCCATTGAGGGTACCATAAAGAGCGGCAGCTCCTTTTTTTTCCTTTTTTTTTTTTTTCCTTTTTTTTATGACTATTGTCTCTACTTCAACATGTCTAATAACAAGGAGTGAACTACCTTACTTGGTAATCTTGTCCATTGTTAGCCCCGATTACAAGAAGAATTTTACCTTGCTGAACATGAACTGAAATTGTAGAAGTTACTTCTTGAAAACAATTTCTGGTGGGGAGGTGGAATACTCATCACCATGCTATCAAGAGAGTTCTTTCACATTCTTCAAAGTACTTTTGAAATAGAGAATTCGATTTGGTTTAATGAATATTTTATATCTTAAAAAAGGAGGCTTAAATTTCCTTAGTGTTTTTTGAATTTAGAATGAAACTTTAGAGTTGAATTTTTAAAAATCAAAGTCTGTCTGTGATTTTTCTCATTTATGTCATCCATTGGAATTAAACAAAATATCCACATTAGATTCATACCATCTCTGTCTGTGAAATTGCTGCTGCTCACAGATAAATCGTCAGGAGTTGAGATGCCATTGGCATTGGAATTCCCAATTTTCTTTTGTGTTAAGTGCTCAAGACTCATAGCACTATTTTTTTGTGACTCTTTGGTCAAGTTCAGAAAGACCTAGAAAGAGAAGCCAGATCACTTCATTAACATGAAAAGTGCATGTCTTTTCTCATTTCTAAGCTTACCTTTGATTTTGAACTTTTATCACATTTACTGAGACAAATTTTTCCCGTCTGACTTCAAGTGAATATTTCTGTATGTAAAAGATACGTGCTGTCTAGCTGGGGCAACATTTTATTCTCAGTCTTACATAAGAATAGTACTGAAAAAATGTTAAGCTTTTCTAATTTTGTGAACTATTTTAAAAATTTTTTTAGAAAAATGGCACATATTTCTTCAAAGGGAACAGCAAGTTATATCAGCTTGAAGAAAAAAAAGAAATATTGAGGTATACCTCCTCCACGGTGGTATCTGAAATGCCGTAGCACCCGATGTTGAGGTCACCCATGCCATTGTCGAGTGCCCGTAGGAGTGACAGGTAGGCCCCTGAGACTTTGGTGCTGAATGGAGGAAGTACATAAACAAGCTCTCCCCCAATATCCTCCTTGAGGTAGGCTTCGGGGAGATGTGATTGGATCATTGCTGTCACGGCCATGGTGTCACATACTGCATTTGCATTTAAATTTGGACTCTAAGAGAGAAAAGTAGGAATTAAAACACTCTCCTCTCTTTACACTATAGTGCTCCAGGCCCTAATCAGAGGGTGAGGTGATGAGCTCTTTTAGGCCACTCCACACCTGAGTCAGATCATAACATCACTGCTCTAGAGACCCCTTTGCCACTTGGGTCCCTATTCTACTGGCCCCATTCTCCCATGTCACGCTGTCCCTTCTCTAACCCCCTCCCTCTCATTTGCTCTACTCTAGCAACAACAGTCTCTTTTCTGTTGCTAGAGGGCTTTGGGTTCAGGCACATCCCCTCCTCAGGGTCCTTGCAACTGGTGGTCCTATACCTCCAGATAGCGATGTGTCCCATTCTCTCACCACCTCCAACTCTCAGCTCAACTGTCACTTTATCAAAGAACCTCTTTTCTTATTACCCTACTTAAATATTGCCCCACTTGGCATTCCCTGCTTTATTTCTATCCATAGCATAGAAATAAATATTTACTAAAATATTATTTATTAATAAATATTAAAAAATTTACTAATAGAAATAAGTGATGTACTAATTGCCAATATATGAAATAATTTACTTATTGATCGTATCATCTGAATTCCTCACACTCCATCAGAATATAAACTCTAAGAGGCCAGAGATTTTCATATTATCAGTTCACTGCTGTGTCACCACTGCCTGGGACAGTGCTTGGATATCATAAGGCATAATGCACCTAATACATAAATGTCTGAATGAGTATAATAATTAAGAGTATAACTATTAATAGCATAACATTTTCTTATATTTTGTAAGTCACAGGAGGATTAGATATAAAATAAATGGAGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTTAAATCATATGTTCTGTTAGGTGGTGCAGGGATCTTTAGCGAGCATTTTTGTTCTCCAAAAGATGTAAAGGCACCGTTGACCTGTGCAAATTACAGTCCCTGCACTGCCACTTGAGGAGTACTAATCAGAATGTGAACCCATGACTTCATATTCGTTTTATTTGCTTTTGATAAAGCAGAAAATTGAATTTTTGGCTTTCTAGGTTGAAATGTTAGGAGAACTAAAAGGCTGATTCTCCATCAGTAACCTTAAGATGTCAATCATTTTTTACCTAGCACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTCGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGAT 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GCAGAGCAGCTATAGAGGCCATAAACCATTGCTTCCTCAATAGAGCTCTGTGGCTAATAATTTCAGCACTCCCTCTAAAAACAGGTTCAAATATAGCATTCTCTCCGAAAGCCTGCCACCACGCACACCTTCATAGGTGATAAAATGATGGTATTCATCAACTCTGCGTATATTTTAAGTTTTCCATCAGAAATTATGCAGCACAAAAATCATGATCTTCATTTAGCTGATAAGAAAAAATACAAAGCTGCTTAATTTAAAATGAATTCCAATTAAACAGAGTGAACAAGTTTAAATGCAAACTCATATCTCTGCAAAAGGGAACTGTAGAAGGAGCTGAATATTTTCAGTTAATTAGTATGCTTTTCTGTTTCTTGAGAAATTATATGTGGATGACTTACAGGTGTATCAAATGAAATAAATGTGCTTTCTAAAAGATAATGTCAATGAAGGGAACATTTGGACTGAAGAATAGTTTCAAATTATAAGACACATGCAGAGGCACATACTTAGCCTTTGCTTCCTGCAGCAGATGACCACTTTCTAATAAAAGTCCTCAATGCCATGGAGGCCACAATTATATTCCCCAAAAGAAAAGAAATGAGAACTATGACAGAGGACAAATTAGCCTCCAGTTCCAGAATTATACAAACATCAGAGATTATCTTTCCTGACTTTGAGAGCCAGGCAAATGTTTAATTAAAAGTTCTGTTCCTAGAGATTTTTTTCTGTAAGCAAAAACTGTTGAAATGACTACTCCATGATTTATATATCATTTTACTCTATGCTTCCTTAAGTAAATGGTGTTTCCAGAGGTATAAATTAACTGTCAGAAAGAGAAGAGACAATAAAAGTTATTTTCAAAAGAGCCCAATCCCACAAAGTCGTGTCAAGCAACATGATTTTTTAAGCATATCCTATGTTAAGGATTGGGGGAGGAAATCTACTATTACAGACTCTTAGCCATCAAGTCCAAATTAATTAACTCAGAAACTCTCCCCAAAAGCAGTTTCTCAGCACCTGAAAGACTCAGAGTCACGTAGGTTAGACATGTTTTCCATTGAGGGTACCATAAAGAGCGGCAGCTCCTTTTTTTTCCTTTTTTTTTTTTTTCCTTTTTTTTATGACTATTGTCTCTACTTCAACATGTCTAATAACAAGGAGTGAACTACCTTACTTGGTAATCTTGTCCATTGTTAGCCCCGATTACAAGAAGAATTTTACCTTGCTGAACATGAACTGAAATTGTAGAAGTTACTTCTTGAAAACAATTTCTGGTGGGGAGGTGGAATACTCATCACCATGCTATCAAGAGAGTTCTTTCACATTCTTCAAAGTACTTTTGAAATAGAGAATTCGATTTGGTTTAATGAATATTTTATATCTTAAAAAAGGAGGCTTAAATTTCCTTAGTGTTTTTTGAATTTAGAATGAAACTTTAGAGTTGAATTTTTAAAAATCAAAGTCTGTCTGTGATTTTTCTCATTTATGTCATCCATTGGAATTAAACAAAATATCCACATTAGATTCATACCATCTCTGTCTGTGAAATTGCTGCTGCTCACAGATAAATCGTCAGGAGTTGAGATGCCATTGGCATTGGAATTCCCAATTTTCTTTTGTGTTAAGTGCTCAAGACTCATAGCACTATTTTTTTGTGACTCTTTGGTCAAGTTCAGAAAGACCTAGAAAGAGAAGCCAGATCACTTCATTAACATGAAAAGTGCATGTCTTTTCTCATTTCTAAGCTTACCTTTGATTTTGAACTTTTATCACATTTACTGAGACAAATTTTTCCCGTCTGACTTCAAGTGAATATTTCTGTATGTAAAAGATACGTGCTGTCTAGCTGGGGCAACATTTTATTCTCAGTCTTACATAAGAATAGTACTGAAAAAATGTTAAGCTTTTCTAATTTTGTGAACTATTTTAAAAATTTTTTTAGAAAAATGGCACATATTTCTTCAAAGGGAACAGCAAGTTATATCAGCTTGAAGAAAAAAAAGAAATATTGAGGTATACCTCCTCCACGGTGGTATCTGAAATGCTGTAGCACCCGATGTTGAGGTCACCCATGCCATTGTCGAGTGCCCGTAGGAGTGACAGGTAGGCCCCTGAGACTTTGGTGCTGAATGGAGGAAGTACATAAACAAGCTCTCCCCCAATATCCTCCTTGAGGTAGGCTTCGGGGAGATGTGATTGGATCATTGCTGTCACGGCCATGGTGTCACATACTGCATTTGCATTTAAATTTGGACTCTAAGAGAGAAAAGTAGGAATTAAAACACTCTCCTCTCTTTACACTATAGTGCTCCAGGCCCTAATCAGAGGGTGAGGTGATGAGCTCTTTTAGGCCACTCCACACCTGAGTCAGATCATAACATCACTGCTCTAGAGACCCCTTTGCCACTTGGGTCCCTATTCTACTGGCCCCATTCTCCCATGTCACGCTGTCCCTTCTCTAACCCCCTCCCTCTCATTTGCTCTACTCTAGCAACAACAGTCTCTTTTCTGTTGCTAGAGGGCTTTGGGTTCAGGCACATCCCCTCCTCAGGGTCCTTGCAACTGGTGGTCCTATACCTCCAGATAGCGATGTGTCCCATTCTCTCACCACCTCCAACTCTCAGCTCAACTGTCACTTTATCAAAGAACCTCTTTTCTTATTACCCTACTTAAATATTGCCCCACTTGGCATTCCCTGCTTTATTTCTATCCATAGCATAGAAATAAATATTTACTAAAATATTATTTATTAATAAATATTAAAAAATTTACTAATAGAAATAAGTGATGTACTAATTGCCAATATATGAAATAATTTACTTATTGATCGTATCATCTGAATTCCTCACACTCCATCAGAATATAAACTCTAAGAGGCCAGAGATTTTCATATTATCAGTTCACTGCTGTGTCACCACTGCCTGGGACAGTGCTTGGATATCATAAGGCATAATGCACCTAATACATAAATGTCTGAATGAGTATAATAATTAAGAGTATAACTATTAATAGCATAACATTTTCTTATATTTTGTAAGTCACAGGAGGATTAGATATAAAATAAATGGAGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTTAAATCATATGTTCTGTTAGGTGGTGCAGGGATCTTTAGCGAGCATTTTTGTTCTCCAAAAGATGTAAAGGCACCGTTGACCTGTGCAAATTACAGTCCCTGCACTGCCACTTGAGGAGTACTAATCAGAATGTGAACCCATGACTTCATATTCGTTTTATTTGCTTTTGATAAAGCAGAAAATTGAATTTTTGGCTTTCTAGGTTGAAATGTTAGGAGAACTAAAAGGCTGATTCTCCATCAGTAACCTTAAGATGTCAATCATTTTTTACCTAGCACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTCGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGAT 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Task1_train_5409 | This mutation occurs in ABCA12 (ATP binding cassette subfamily A member 12) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 4B | TTACTGAGACAAATTTTTCCCGTCTGACTTCAAGTGAATATTTCTGTATGTAAAAGATACGTGCTGTCTAGCTGGGGCAACATTTTATTCTCAGTCTTACATAAGAATAGTACTGAAAAAATGTTAAGCTTTTCTAATTTTGTGAACTATTTTAAAAATTTTTTTAGAAAAATGGCACATATTTCTTCAAAGGGAACAGCAAGTTATATCAGCTTGAAGAAAAAAAAGAAATATTGAGGTATACCTCCTCCACGGTGGTATCTGAAATGCCGTAGCACCCGATGTTGAGGTCACCCATGCCATTGTCGAGTGCCCGTAGGAGTGACAGGTAGGCCCCTGAGACTTTGGTGCTGAATGGAGGAAGTACATAAACAAGCTCTCCCCCAATATCCTCCTTGAGGTAGGCTTCGGGGAGATGTGATTGGATCATTGCTGTCACGGCCATGGTGTCACATACTGCATTTGCATTTAAATTTGGACTCTAAGAGAGAAAAGTAGGAATTAAAACACTCTCCTCTCTTTACACTATAGTGCTCCAGGCCCTAATCAGAGGGTGAGGTGATGAGCTCTTTTAGGCCACTCCACACCTGAGTCAGATCATAACATCACTGCTCTAGAGACCCCTTTGCCACTTGGGTCCCTATTCTACTGGCCCCATTCTCCCATGTCACGCTGTCCCTTCTCTAACCCCCTCCCTCTCATTTGCTCTACTCTAGCAACAACAGTCTCTTTTCTGTTGCTAGAGGGCTTTGGGTTCAGGCACATCCCCTCCTCAGGGTCCTTGCAACTGGTGGTCCTATACCTCCAGATAGCGATGTGTCCCATTCTCTCACCACCTCCAACTCTCAGCTCAACTGTCACTTTATCAAAGAACCTCTTTTCTTATTACCCTACTTAAATATTGCCCCACTTGGCATTCCCTGCTTTATTTCTATCCATAGCATAGAAATAAATATTTACTAAAATATTATTTATTAATAAATATTAAAAAATTTACTAATAGAAATAAGTGATGTACTAATTGCCAATATATGAAATAATTTACTTATTGATCGTATCATCTGAATTCCTCACACTCCATCAGAATATAAACTCTAAGAGGCCAGAGATTTTCATATTATCAGTTCACTGCTGTGTCACCACTGCCTGGGACAGTGCTTGGATATCATAAGGCATAATGCACCTAATACATAAATGTCTGAATGAGTATAATAATTAAGAGTATAACTATTAATAGCATAACATTTTCTTATATTTTGTAAGTCACAGGAGGATTAGATATAAAATAAATGGAGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTTAAATCATATGTTCTGTTAGGTGGTGCAGGGATCTTTAGCGAGCATTTTTGTTCTCCAAAAGATGTAAAGGCACCGTTGACCTGTGCAAATTACAGTCCCTGCACTGCCACTTGAGGAGTACTAATCAGAATGTGAACCCATGACTTCATATTCGTTTTATTTGCTTTTGATAAAGCAGAAAATTGAATTTTTGGCTTTCTAGGTTGAAATGTTAGGAGAACTAAAAGGCTGATTCTCCATCAGTAACCTTAAGATGTCAATCATTTTTTACCTAGCACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTCGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTACAATTAGCTGGGTGTGGTGGCGGATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTCTCTTGAACCCGGGAGGTGGAGGGTGTAGTGAGCCAAGATTTATGCCACTGCACTCCAGCCTGGGTGACAGACGAGAGTCCATCTCAAAGGGAAAAAAAAAAAAAAGAAAGGAAAAAAAGAAGAAAAACTCAGAAGGGTGTTCTTAAATATTTGGACGCATTTTTTTTCATATAAATTAACAGCAAATAATCCTTTATTATGCTGAGTGACTAAATGTTCACCATTTGTCATGTGGGCATTGGCAATTCTTCACAGTCTATTAGAATTTTGCTCCCATGGGTTCATTTTGCATTGTTTTTCTCTCTCTCTTCCCCTTTCTTCATTATGAAAAAGCAATAATTTAAGACTTTTTGAATATTCCTCTCTGATTATTCCACTCCACTCTGATTACTCCGTTGCTTCACATCCTGTCAGCACTTACTTAGTCTGTTTTCAGTTTATTTTCATTTGTGTATGTTTGATATCTCTAATTAGATTCTTAGCTCCTCTAAGCATTAAACTTTGAAACTTCTGTTGGATTTGCATGCTCTCAAAAAGGCCAGTTAAGTGCTCAACTCACAGCGGGCAGTACATAGATATTAACCAATTGACCCAGAAAGTTGTCTGGGAGAAAAATCTTCAAAATCTTCAGAAAAGAAAGAGCCAATCTTAGACTTTTAAAAGATATCATATTCGATAAATATGTACAAGCATGATGTATCTATACAAATAAATTTTAAAATTTTTAAAAAGATATCATAAACAGAAAAGTCGTCAAGCTGGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTATCTCACTCTGTCATCCAGGCTGGAGTGCAGTGACTTGATCATAACTTACTGCACCCCTGCACCCTTGACCTCTTGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCTGACTAGCTAGGACTACACATGCCAGCCACCACAGTCAGCTGTTTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTATTATTATTGACAGCGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCCTCAGTTTGCTTTTGTATATGCCAGAGGGCAGAAGTATGACTGTTGGGTGGAGAAGTTCTGAGAAACTACTCATACCAGTTTTGTTCTTGGATATAACATCCCATATACTTCGGCGAGAACATGGGTCAACTCCAGTAGATGGTTCATCCAAAATTACTACCCTTGATCCACCAATGAGAGCTATGGATATAGATAACTTCCTCTTCATGCCTCCTGACAGTGTTCCAACTCTCTTATGACGATGGCTATATAGTCCAGTATCTTTTAAAGTCCTTCAAAAATAATGTATGATGGTTATTTTTTTACAGATATACTATTTGAGTACTGGAAACATACAATAACCCTAATTGATATGTATTCACTAGGTAACTATTATGTGCTCAGTAAGGTACAATAAACTCTTGAGGATTCATAATATAGTTTTCTATTATTTATCACCTGGATACAAAATTAATACTCAAAAAATTAACTTTTTACAAAGTACAAAATTAATGTACTTTACAAAGTACAAAATTAATACTCAGAAAAAAACACAAAGGAATAT 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TTACTGAGACAAATTTTTCCCGTCTGACTTCAAGTGAATATTTCTGTATGTAAAAGATACGTGCTGTCTAGCTGGGGCAACATTTTATTCTCAGTCTTACATAAGAATAGTACTGAAAAAATGTTAAGCTTTTCTAATTTTGTGAACTATTTTAAAAATTTTTTTAGAAAAATGGCACATATTTCTTCAAAGGGAACAGCAAGTTATATCAGCTTGAAGAAAAAAAAGAAATATTGAGGTATACCTCCTCCACGGTGGTATCTGAAATGCCGTAGCACCCGATGTTGAGGTCACCCATGCCATTGTCGAGTGCCCGTAGGAGTGACAGGTAGGCCCCTGAGACTTTGGTGCTGAATGGAGGAAGTACATAAACAAGCTCTCCCCCAATATCCTCCTTGAGGTAGGCTTCGGGGAGATGTGATTGGATCATTGCTGTCACGGCCATGGTGTCACATACTGCATTTGCATTTAAATTTGGACTCTAAGAGAGAAAAGTAGGAATTAAAACACTCTCCTCTCTTTACACTATAGTGCTCCAGGCCCTAATCAGAGGGTGAGGTGATGAGCTCTTTTAGGCCACTCCACACCTGAGTCAGATCATAACATCACTGCTCTAGAGACCCCTTTGCCACTTGGGTCCCTATTCTACTGGCCCCATTCTCCCATGTCACGCTGTCCCTTCTCTAACCCCCTCCCTCTCATTTGCTCTACTCTAGCAACAACAGTCTCTTTTCTGTTGCTAGAGGGCTTTGGGTTCAGGCACATCCCCTCCTCAGGGTCCTTGCAACTGGTGGTCCTATACCTCCAGATAGCGATGTGTCCCATTCTCTCACCACCTCCAACTCTCAGCTCAACTGTCACTTTATCAAAGAACCTCTTTTCTTATTACCCTACTTAAATATTGCCCCACTTGGCATTCCCTGCTTTATTTCTATCCATAGCATAGAAATAAATATTTACTAAAATATTATTTATTAATAAATATTAAAAAATTTACTAATAGAAATAAGTGATGTACTAATTGCCAATATATGAAATAATTTACTTATTGATCGTATCATCTGAATTCCTCACACTCCATCAGAATATAAACTCTAAGAGGCCAGAGATTTTCATATTATCAGTTCACTGCTGTGTCACCACTGCCTGGGACAGTGCTTGGATATCATAAGGCATAATGCACCTAATACATAAATGTCTGAATGAGTATAATAATTAAGAGTATAACTATTAATAGCATAACATTTTCTTATATTTTGTAAGTCACAGGAGGATTAGATATAAAATAAATGGAGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTTAAATCATATGTTCTGTTAGGTGGTGCAGGGATCTTTAGCGAGCATTTTTGTTCTCCAAAAGATGTAAAGGCACCGTTGACCTGTGCAAATTACAGTCCCTGCACTGCCACTTGAGGAGTACTAATCAGAATGTGAACCCATGACTTCATATTCGTTTTATTTGCTTTTGATAAAGCAGAAAATTGAATTTTTGGCTTTCTAGGTTGAAATGTTAGGAGAACTAAAAGGCTGATTCTCCATCAGTAACCTTAAGATGTCAATCATTTTTTACCTAGCACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTTGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTACAATTAGCTGGGTGTGGTGGCGGATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTCTCTTGAACCCGGGAGGTGGAGGGTGTAGTGAGCCAAGATTTATGCCACTGCACTCCAGCCTGGGTGACAGACGAGAGTCCATCTCAAAGGGAAAAAAAAAAAAAAGAAAGGAAAAAAAGAAGAAAAACTCAGAAGGGTGTTCTTAAATATTTGGACGCATTTTTTTTCATATAAATTAACAGCAAATAATCCTTTATTATGCTGAGTGACTAAATGTTCACCATTTGTCATGTGGGCATTGGCAATTCTTCACAGTCTATTAGAATTTTGCTCCCATGGGTTCATTTTGCATTGTTTTTCTCTCTCTCTTCCCCTTTCTTCATTATGAAAAAGCAATAATTTAAGACTTTTTGAATATTCCTCTCTGATTATTCCACTCCACTCTGATTACTCCGTTGCTTCACATCCTGTCAGCACTTACTTAGTCTGTTTTCAGTTTATTTTCATTTGTGTATGTTTGATATCTCTAATTAGATTCTTAGCTCCTCTAAGCATTAAACTTTGAAACTTCTGTTGGATTTGCATGCTCTCAAAAAGGCCAGTTAAGTGCTCAACTCACAGCGGGCAGTACATAGATATTAACCAATTGACCCAGAAAGTTGTCTGGGAGAAAAATCTTCAAAATCTTCAGAAAAGAAAGAGCCAATCTTAGACTTTTAAAAGATATCATATTCGATAAATATGTACAAGCATGATGTATCTATACAAATAAATTTTAAAATTTTTAAAAAGATATCATAAACAGAAAAGTCGTCAAGCTGGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTATCTCACTCTGTCATCCAGGCTGGAGTGCAGTGACTTGATCATAACTTACTGCACCCCTGCACCCTTGACCTCTTGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCTGACTAGCTAGGACTACACATGCCAGCCACCACAGTCAGCTGTTTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTATTATTATTGACAGCGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCCTCAGTTTGCTTTTGTATATGCCAGAGGGCAGAAGTATGACTGTTGGGTGGAGAAGTTCTGAGAAACTACTCATACCAGTTTTGTTCTTGGATATAACATCCCATATACTTCGGCGAGAACATGGGTCAACTCCAGTAGATGGTTCATCCAAAATTACTACCCTTGATCCACCAATGAGAGCTATGGATATAGATAACTTCCTCTTCATGCCTCCTGACAGTGTTCCAACTCTCTTATGACGATGGCTATATAGTCCAGTATCTTTTAAAGTCCTTCAAAAATAATGTATGATGGTTATTTTTTTACAGATATACTATTTGAGTACTGGAAACATACAATAACCCTAATTGATATGTATTCACTAGGTAACTATTATGTGCTCAGTAAGGTACAATAAACTCTTGAGGATTCATAATATAGTTTTCTATTATTTATCACCTGGATACAAAATTAATACTCAAAAAATTAACTTTTTACAAAGTACAAAATTAATGTACTTTACAAAGTACAAAATTAATACTCAGAAAAAAACACAAAGGAATAT 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Task1_train_5410 | A variant found in Chromosome 2 affects ABCA12 (ATP binding cassette subfamily A member 12). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Autosomal recessive congenital ichthyosis 4A | TTACTGAGACAAATTTTTCCCGTCTGACTTCAAGTGAATATTTCTGTATGTAAAAGATACGTGCTGTCTAGCTGGGGCAACATTTTATTCTCAGTCTTACATAAGAATAGTACTGAAAAAATGTTAAGCTTTTCTAATTTTGTGAACTATTTTAAAAATTTTTTTAGAAAAATGGCACATATTTCTTCAAAGGGAACAGCAAGTTATATCAGCTTGAAGAAAAAAAAGAAATATTGAGGTATACCTCCTCCACGGTGGTATCTGAAATGCCGTAGCACCCGATGTTGAGGTCACCCATGCCATTGTCGAGTGCCCGTAGGAGTGACAGGTAGGCCCCTGAGACTTTGGTGCTGAATGGAGGAAGTACATAAACAAGCTCTCCCCCAATATCCTCCTTGAGGTAGGCTTCGGGGAGATGTGATTGGATCATTGCTGTCACGGCCATGGTGTCACATACTGCATTTGCATTTAAATTTGGACTCTAAGAGAGAAAAGTAGGAATTAAAACACTCTCCTCTCTTTACACTATAGTGCTCCAGGCCCTAATCAGAGGGTGAGGTGATGAGCTCTTTTAGGCCACTCCACACCTGAGTCAGATCATAACATCACTGCTCTAGAGACCCCTTTGCCACTTGGGTCCCTATTCTACTGGCCCCATTCTCCCATGTCACGCTGTCCCTTCTCTAACCCCCTCCCTCTCATTTGCTCTACTCTAGCAACAACAGTCTCTTTTCTGTTGCTAGAGGGCTTTGGGTTCAGGCACATCCCCTCCTCAGGGTCCTTGCAACTGGTGGTCCTATACCTCCAGATAGCGATGTGTCCCATTCTCTCACCACCTCCAACTCTCAGCTCAACTGTCACTTTATCAAAGAACCTCTTTTCTTATTACCCTACTTAAATATTGCCCCACTTGGCATTCCCTGCTTTATTTCTATCCATAGCATAGAAATAAATATTTACTAAAATATTATTTATTAATAAATATTAAAAAATTTACTAATAGAAATAAGTGATGTACTAATTGCCAATATATGAAATAATTTACTTATTGATCGTATCATCTGAATTCCTCACACTCCATCAGAATATAAACTCTAAGAGGCCAGAGATTTTCATATTATCAGTTCACTGCTGTGTCACCACTGCCTGGGACAGTGCTTGGATATCATAAGGCATAATGCACCTAATACATAAATGTCTGAATGAGTATAATAATTAAGAGTATAACTATTAATAGCATAACATTTTCTTATATTTTGTAAGTCACAGGAGGATTAGATATAAAATAAATGGAGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTTAAATCATATGTTCTGTTAGGTGGTGCAGGGATCTTTAGCGAGCATTTTTGTTCTCCAAAAGATGTAAAGGCACCGTTGACCTGTGCAAATTACAGTCCCTGCACTGCCACTTGAGGAGTACTAATCAGAATGTGAACCCATGACTTCATATTCGTTTTATTTGCTTTTGATAAAGCAGAAAATTGAATTTTTGGCTTTCTAGGTTGAAATGTTAGGAGAACTAAAAGGCTGATTCTCCATCAGTAACCTTAAGATGTCAATCATTTTTTACCTAGCACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTCGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTACAATTAGCTGGGTGTGGTGGCGGATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTCTCTTGAACCCGGGAGGTGGAGGGTGTAGTGAGCCAAGATTTATGCCACTGCACTCCAGCCTGGGTGACAGACGAGAGTCCATCTCAAAGGGAAAAAAAAAAAAAAGAAAGGAAAAAAAGAAGAAAAACTCAGAAGGGTGTTCTTAAATATTTGGACGCATTTTTTTTCATATAAATTAACAGCAAATAATCCTTTATTATGCTGAGTGACTAAATGTTCACCATTTGTCATGTGGGCATTGGCAATTCTTCACAGTCTATTAGAATTTTGCTCCCATGGGTTCATTTTGCATTGTTTTTCTCTCTCTCTTCCCCTTTCTTCATTATGAAAAAGCAATAATTTAAGACTTTTTGAATATTCCTCTCTGATTATTCCACTCCACTCTGATTACTCCGTTGCTTCACATCCTGTCAGCACTTACTTAGTCTGTTTTCAGTTTATTTTCATTTGTGTATGTTTGATATCTCTAATTAGATTCTTAGCTCCTCTAAGCATTAAACTTTGAAACTTCTGTTGGATTTGCATGCTCTCAAAAAGGCCAGTTAAGTGCTCAACTCACAGCGGGCAGTACATAGATATTAACCAATTGACCCAGAAAGTTGTCTGGGAGAAAAATCTTCAAAATCTTCAGAAAAGAAAGAGCCAATCTTAGACTTTTAAAAGATATCATATTCGATAAATATGTACAAGCATGATGTATCTATACAAATAAATTTTAAAATTTTTAAAAAGATATCATAAACAGAAAAGTCGTCAAGCTGGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTATCTCACTCTGTCATCCAGGCTGGAGTGCAGTGACTTGATCATAACTTACTGCACCCCTGCACCCTTGACCTCTTGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCTGACTAGCTAGGACTACACATGCCAGCCACCACAGTCAGCTGTTTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTATTATTATTGACAGCGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCCTCAGTTTGCTTTTGTATATGCCAGAGGGCAGAAGTATGACTGTTGGGTGGAGAAGTTCTGAGAAACTACTCATACCAGTTTTGTTCTTGGATATAACATCCCATATACTTCGGCGAGAACATGGGTCAACTCCAGTAGATGGTTCATCCAAAATTACTACCCTTGATCCACCAATGAGAGCTATGGATATAGATAACTTCCTCTTCATGCCTCCTGACAGTGTTCCAACTCTCTTATGACGATGGCTATATAGTCCAGTATCTTTTAAAGTCCTTCAAAAATAATGTATGATGGTTATTTTTTTACAGATATACTATTTGAGTACTGGAAACATACAATAACCCTAATTGATATGTATTCACTAGGTAACTATTATGTGCTCAGTAAGGTACAATAAACTCTTGAGGATTCATAATATAGTTTTCTATTATTTATCACCTGGATACAAAATTAATACTCAAAAAATTAACTTTTTACAAAGTACAAAATTAATGTACTTTACAAAGTACAAAATTAATACTCAGAAAAAAACACAAAGGAATAT 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TTACTGAGACAAATTTTTCCCGTCTGACTTCAAGTGAATATTTCTGTATGTAAAAGATACGTGCTGTCTAGCTGGGGCAACATTTTATTCTCAGTCTTACATAAGAATAGTACTGAAAAAATGTTAAGCTTTTCTAATTTTGTGAACTATTTTAAAAATTTTTTTAGAAAAATGGCACATATTTCTTCAAAGGGAACAGCAAGTTATATCAGCTTGAAGAAAAAAAAGAAATATTGAGGTATACCTCCTCCACGGTGGTATCTGAAATGCCGTAGCACCCGATGTTGAGGTCACCCATGCCATTGTCGAGTGCCCGTAGGAGTGACAGGTAGGCCCCTGAGACTTTGGTGCTGAATGGAGGAAGTACATAAACAAGCTCTCCCCCAATATCCTCCTTGAGGTAGGCTTCGGGGAGATGTGATTGGATCATTGCTGTCACGGCCATGGTGTCACATACTGCATTTGCATTTAAATTTGGACTCTAAGAGAGAAAAGTAGGAATTAAAACACTCTCCTCTCTTTACACTATAGTGCTCCAGGCCCTAATCAGAGGGTGAGGTGATGAGCTCTTTTAGGCCACTCCACACCTGAGTCAGATCATAACATCACTGCTCTAGAGACCCCTTTGCCACTTGGGTCCCTATTCTACTGGCCCCATTCTCCCATGTCACGCTGTCCCTTCTCTAACCCCCTCCCTCTCATTTGCTCTACTCTAGCAACAACAGTCTCTTTTCTGTTGCTAGAGGGCTTTGGGTTCAGGCACATCCCCTCCTCAGGGTCCTTGCAACTGGTGGTCCTATACCTCCAGATAGCGATGTGTCCCATTCTCTCACCACCTCCAACTCTCAGCTCAACTGTCACTTTATCAAAGAACCTCTTTTCTTATTACCCTACTTAAATATTGCCCCACTTGGCATTCCCTGCTTTATTTCTATCCATAGCATAGAAATAAATATTTACTAAAATATTATTTATTAATAAATATTAAAAAATTTACTAATAGAAATAAGTGATGTACTAATTGCCAATATATGAAATAATTTACTTATTGATCGTATCATCTGAATTCCTCACACTCCATCAGAATATAAACTCTAAGAGGCCAGAGATTTTCATATTATCAGTTCACTGCTGTGTCACCACTGCCTGGGACAGTGCTTGGATATCATAAGGCATAATGCACCTAATACATAAATGTCTGAATGAGTATAATAATTAAGAGTATAACTATTAATAGCATAACATTTTCTTATATTTTGTAAGTCACAGGAGGATTAGATATAAAATAAATGGAGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTTAAATCATATGTTCTGTTAGGTGGTGCAGGGATCTTTAGCGAGCATTTTTGTTCTCCAAAAGATGTAAAGGCACCGTTGACCTGTGCAAATTACAGTCCCTGCACTGCCACTTGAGGAGTACTAATCAGAATGTGAACCCATGACTTCATATTCGTTTTATTTGCTTTTGATAAAGCAGAAAATTGAATTTTTGGCTTTCTAGGTTGAAATGTTAGGAGAACTAAAAGGCTGATTCTCCATCAGTAACCTTAAGATGTCAATCATTTTTTACCTAGCACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTTGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTACAATTAGCTGGGTGTGGTGGCGGATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTCTCTTGAACCCGGGAGGTGGAGGGTGTAGTGAGCCAAGATTTATGCCACTGCACTCCAGCCTGGGTGACAGACGAGAGTCCATCTCAAAGGGAAAAAAAAAAAAAAGAAAGGAAAAAAAGAAGAAAAACTCAGAAGGGTGTTCTTAAATATTTGGACGCATTTTTTTTCATATAAATTAACAGCAAATAATCCTTTATTATGCTGAGTGACTAAATGTTCACCATTTGTCATGTGGGCATTGGCAATTCTTCACAGTCTATTAGAATTTTGCTCCCATGGGTTCATTTTGCATTGTTTTTCTCTCTCTCTTCCCCTTTCTTCATTATGAAAAAGCAATAATTTAAGACTTTTTGAATATTCCTCTCTGATTATTCCACTCCACTCTGATTACTCCGTTGCTTCACATCCTGTCAGCACTTACTTAGTCTGTTTTCAGTTTATTTTCATTTGTGTATGTTTGATATCTCTAATTAGATTCTTAGCTCCTCTAAGCATTAAACTTTGAAACTTCTGTTGGATTTGCATGCTCTCAAAAAGGCCAGTTAAGTGCTCAACTCACAGCGGGCAGTACATAGATATTAACCAATTGACCCAGAAAGTTGTCTGGGAGAAAAATCTTCAAAATCTTCAGAAAAGAAAGAGCCAATCTTAGACTTTTAAAAGATATCATATTCGATAAATATGTACAAGCATGATGTATCTATACAAATAAATTTTAAAATTTTTAAAAAGATATCATAAACAGAAAAGTCGTCAAGCTGGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTATCTCACTCTGTCATCCAGGCTGGAGTGCAGTGACTTGATCATAACTTACTGCACCCCTGCACCCTTGACCTCTTGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCTGACTAGCTAGGACTACACATGCCAGCCACCACAGTCAGCTGTTTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTATTATTATTGACAGCGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCCTCAGTTTGCTTTTGTATATGCCAGAGGGCAGAAGTATGACTGTTGGGTGGAGAAGTTCTGAGAAACTACTCATACCAGTTTTGTTCTTGGATATAACATCCCATATACTTCGGCGAGAACATGGGTCAACTCCAGTAGATGGTTCATCCAAAATTACTACCCTTGATCCACCAATGAGAGCTATGGATATAGATAACTTCCTCTTCATGCCTCCTGACAGTGTTCCAACTCTCTTATGACGATGGCTATATAGTCCAGTATCTTTTAAAGTCCTTCAAAAATAATGTATGATGGTTATTTTTTTACAGATATACTATTTGAGTACTGGAAACATACAATAACCCTAATTGATATGTATTCACTAGGTAACTATTATGTGCTCAGTAAGGTACAATAAACTCTTGAGGATTCATAATATAGTTTTCTATTATTTATCACCTGGATACAAAATTAATACTCAAAAAATTAACTTTTTACAAAGTACAAAATTAATGTACTTTACAAAGTACAAAATTAATACTCAGAAAAAAACACAAAGGAATAT 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Task1_train_5411 | This genomic variant is located on Chromosome 2, within the ABCA12 (ATP binding cassette subfamily A member 12) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; ABCA12-related disorder | CACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTCGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTACAATTAGCTGGGTGTGGTGGCGGATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTCTCTTGAACCCGGGAGGTGGAGGGTGTAGTGAGCCAAGATTTATGCCACTGCACTCCAGCCTGGGTGACAGACGAGAGTCCATCTCAAAGGGAAAAAAAAAAAAAAGAAAGGAAAAAAAGAAGAAAAACTCAGAAGGGTGTTCTTAAATATTTGGACGCATTTTTTTTCATATAAATTAACAGCAAATAATCCTTTATTATGCTGAGTGACTAAATGTTCACCATTTGTCATGTGGGCATTGGCAATTCTTCACAGTCTATTAGAATTTTGCTCCCATGGGTTCATTTTGCATTGTTTTTCTCTCTCTCTTCCCCTTTCTTCATTATGAAAAAGCAATAATTTAAGACTTTTTGAATATTCCTCTCTGATTATTCCACTCCACTCTGATTACTCCGTTGCTTCACATCCTGTCAGCACTTACTTAGTCTGTTTTCAGTTTATTTTCATTTGTGTATGTTTGATATCTCTAATTAGATTCTTAGCTCCTCTAAGCATTAAACTTTGAAACTTCTGTTGGATTTGCATGCTCTCAAAAAGGCCAGTTAAGTGCTCAACTCACAGCGGGCAGTACATAGATATTAACCAATTGACCCAGAAAGTTGTCTGGGAGAAAAATCTTCAAAATCTTCAGAAAAGAAAGAGCCAATCTTAGACTTTTAAAAGATATCATATTCGATAAATATGTACAAGCATGATGTATCTATACAAATAAATTTTAAAATTTTTAAAAAGATATCATAAACAGAAAAGTCGTCAAGCTGGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTATCTCACTCTGTCATCCAGGCTGGAGTGCAGTGACTTGATCATAACTTACTGCACCCCTGCACCCTTGACCTCTTGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCTGACTAGCTAGGACTACACATGCCAGCCACCACAGTCAGCTGTTTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTATTATTATTGACAGCGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCCTCAGTTTGCTTTTGTATATGCCAGAGGGCAGAAGTATGACTGTTGGGTGGAGAAGTTCTGAGAAACTACTCATACCAGTTTTGTTCTTGGATATAACATCCCATATACTTCGGCGAGAACATGGGTCAACTCCAGTAGATGGTTCATCCAAAATTACTACCCTTGATCCACCAATGAGAGCTATGGATATAGATAACTTCCTCTTCATGCCTCCTGACAGTGTTCCAACTCTCTTATGACGATGGCTATATAGTCCAGTATCTTTTAAAGTCCTTCAAAAATAATGTATGATGGTTATTTTTTTACAGATATACTATTTGAGTACTGGAAACATACAATAACCCTAATTGATATGTATTCACTAGGTAACTATTATGTGCTCAGTAAGGTACAATAAACTCTTGAGGATTCATAATATAGTTTTCTATTATTTATCACCTGGATACAAAATTAATACTCAAAAAATTAACTTTTTACAAAGTACAAAATTAATGTACTTTACAAAGTACAAAATTAATACTCAGAAAAAAACACAAAGGAATATATAATTCATTCCTTTGACAAATATCTAGAGAGTTCCTACCTATTTTGTGCCAGGCTGTGTTTTATGTACTTGGGAAAAGCAGTGAACACATAAAATTTCTATTCATAAGGAGATTATGTTCTAGTAAGTGTGTGTATTGGGAGGGATATAGGGAAATCCAGTCAATAAATATATTCTCAAGTAAGTTTTGGTGGTGATAAGTGCAATTAAAAAAAATAAAGCAGTGAATATAAGATAAGGAGTGGCTGGGACATGCTATTATAGGCATCAATTTTATATATGGTAGTCATCTCAGAAAAGGTGACATTTTGGCACAGACCAGGAAAGCGGTCATTTGACCAAGATTAAGACAAATGGCCATCTGGGGGGGTAGGTGCTGTAAGTAGAGAGAAGAGAAAGTAAAAAGCCCTGAGGCTGGAGCAGGCCTAGGACAGTCACGTGTGTAGCTAGGCCAGTGTGCCTTGAGCAGAGTGAATGTGGAGGTGAGTGGAAGGACATGAAATCAGAAGTGAGAATGGAGGCAAATCACTTAGGACCTCCTAAGTCTTGATAAGGATGTTATTGAGTATTATACTGAGCATGGAAGGAAGCCACTGGACGATTTAAATCCAGGAGTGACATAGTCTGATTTGCAGTTGAAAAAGATCACCCTGGTTGCTCTTTGAAGAACAGATTTCACAAGAGATGAGTGAAATCCAAGAATCCACTTAGGAGGCTTGGACCAGGGTAGTAGCCATGGAGATCAGAAGCAAAGGATTCGGGGCAATATGGGAGCCACAGATGAAGAGAGTTAAACAATTTCAGTGTAATAACTGGCCGGTAAGGATAATGACCTTAAATGTTTGCAATATTAAATAAGTAGAAAAACTAAAAAGTAATTATTTCGTGAGAAAATATTTCCTATTGGTATCATTACCAGAACTTTACCAACCAAGCTATGGGTCTTTGAGAGGAGTTAGCAACTTAGGTTCTCATTCCTGTCTTAACTTGCCTTTTTACTTCCTCGTGGAGCTGCTTTTTAGTCCAGTGAGGAACTTTGATGGAACCATATAGGAGAAGGTGCTCCTTAGTAGTGAGGTAACTGAACAAGACGTCGTGCTGCATACAGACTCCCATGTTCTTCCGTACCGTGTGTAGGTCTGTTTTGATATCTTTTCCATATACAAAAATGGTGCCTGCTGAGGCCCCAAACAGCCCAGTTAACATGGAACTGGAAATGAAGAAATGATAAATTAGGTATAAGCCAAGCATTGAAGCTAGATATTAGGAATAACTATATCTCAGTTGTTAGAAGGAAAAAATACAGTGTATCTTCTCAGTCAAGGGCAAACTATGAAATAAAATGGTATTTAATGGGAATAAGAAATATTACTTTTAAGTTTTTAATAATTCAGAGTATTACATAAATGCTAAATGATGATGACAAAAACGATCAGGCCTTTTTTTTTTTTTTTTTTTTGAGACGTAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCGGCTAATTTTTGTAT 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CACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTCGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTACAATTAGCTGGGTGTGGTGGCGGATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTCTCTTGAACCCGGGAGGTGGAGGGTGTAGTGAGCCAAGATTTATGCCACTGCACTCCAGCCTGGGTGACAGACGAGAGTCCATCTCAAAGGGAAAAAAAAAAAAAAGAAAGGAAAAAAAGAAGAAAAACTCAGAAGGGTGTTCTTAAATATTTGGACGCATTTTTTTTCATATAAATTAACAGCAAATAATCCTTTATTATGCTGAGTGACTAAATGTTCACCATTTGTCATGTGGGCATTGGCAATTCTTCACAGTCTATTAGAATTTTGCTCCCATGGGTTCATTTTGCATTGTTTTTCTCTCTCTCTTCCCCTTTCTTCATTATGAAAAAGCAATAATTTAAGACTTTTTGAATATTCCTCTCTGATTATTCCACTCCACTCTGATTACTCCGTTGCTTCACATCCTGTCAGCACTTACTTAGTCTGTTTTCAGTTTATTTTCATTTGTGTATGTTTGATATCTCTAATTAGATTCTTAGCTCCTCTAAGCATTAAACTTTGAAACTTCTGTTGGATTTGCATGCTCTCAAAAAGGCCAGTTAAGTGCTCAACTCACAGCGGGCAGTACATAGATATTAACCAATTGACCCAGAAAGTTGTCTGGGAGAAAAATCTTCAAAATCTTCAGAAAAGAAAGAGCCAATCTTAGACTTTTAAAAGATATCATATTCGATAAATATGTACAAGCATGATGTATCTATACAAATAAATTTTAAAATTTTTAAAAAGATATCATAAACAGAAAAGTCGTCAAGCTGGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTATCTCACTCTGTCATCCAGGCTGGAGTGCAGTGACTTGATCATAACTTACTGCACCCCTGCACCCTTGACCTCTTGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCTGACTAGCTAGGACTACACATGCCAGCCACCACAGTCAGCTGTTTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTATTATTATTGACAGCGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCCTCAGTTTGCTTTTGTATATGCCAGAGGGCAGAAGTATGACTGTTGGGTGGAGAAGTTCTGAGAAACTACTCATACCAGTTTTGTTCTTGGATATAACATCCCATATACTTCGGTGAGAACATGGGTCAACTCCAGTAGATGGTTCATCCAAAATTACTACCCTTGATCCACCAATGAGAGCTATGGATATAGATAACTTCCTCTTCATGCCTCCTGACAGTGTTCCAACTCTCTTATGACGATGGCTATATAGTCCAGTATCTTTTAAAGTCCTTCAAAAATAATGTATGATGGTTATTTTTTTACAGATATACTATTTGAGTACTGGAAACATACAATAACCCTAATTGATATGTATTCACTAGGTAACTATTATGTGCTCAGTAAGGTACAATAAACTCTTGAGGATTCATAATATAGTTTTCTATTATTTATCACCTGGATACAAAATTAATACTCAAAAAATTAACTTTTTACAAAGTACAAAATTAATGTACTTTACAAAGTACAAAATTAATACTCAGAAAAAAACACAAAGGAATATATAATTCATTCCTTTGACAAATATCTAGAGAGTTCCTACCTATTTTGTGCCAGGCTGTGTTTTATGTACTTGGGAAAAGCAGTGAACACATAAAATTTCTATTCATAAGGAGATTATGTTCTAGTAAGTGTGTGTATTGGGAGGGATATAGGGAAATCCAGTCAATAAATATATTCTCAAGTAAGTTTTGGTGGTGATAAGTGCAATTAAAAAAAATAAAGCAGTGAATATAAGATAAGGAGTGGCTGGGACATGCTATTATAGGCATCAATTTTATATATGGTAGTCATCTCAGAAAAGGTGACATTTTGGCACAGACCAGGAAAGCGGTCATTTGACCAAGATTAAGACAAATGGCCATCTGGGGGGGTAGGTGCTGTAAGTAGAGAGAAGAGAAAGTAAAAAGCCCTGAGGCTGGAGCAGGCCTAGGACAGTCACGTGTGTAGCTAGGCCAGTGTGCCTTGAGCAGAGTGAATGTGGAGGTGAGTGGAAGGACATGAAATCAGAAGTGAGAATGGAGGCAAATCACTTAGGACCTCCTAAGTCTTGATAAGGATGTTATTGAGTATTATACTGAGCATGGAAGGAAGCCACTGGACGATTTAAATCCAGGAGTGACATAGTCTGATTTGCAGTTGAAAAAGATCACCCTGGTTGCTCTTTGAAGAACAGATTTCACAAGAGATGAGTGAAATCCAAGAATCCACTTAGGAGGCTTGGACCAGGGTAGTAGCCATGGAGATCAGAAGCAAAGGATTCGGGGCAATATGGGAGCCACAGATGAAGAGAGTTAAACAATTTCAGTGTAATAACTGGCCGGTAAGGATAATGACCTTAAATGTTTGCAATATTAAATAAGTAGAAAAACTAAAAAGTAATTATTTCGTGAGAAAATATTTCCTATTGGTATCATTACCAGAACTTTACCAACCAAGCTATGGGTCTTTGAGAGGAGTTAGCAACTTAGGTTCTCATTCCTGTCTTAACTTGCCTTTTTACTTCCTCGTGGAGCTGCTTTTTAGTCCAGTGAGGAACTTTGATGGAACCATATAGGAGAAGGTGCTCCTTAGTAGTGAGGTAACTGAACAAGACGTCGTGCTGCATACAGACTCCCATGTTCTTCCGTACCGTGTGTAGGTCTGTTTTGATATCTTTTCCATATACAAAAATGGTGCCTGCTGAGGCCCCAAACAGCCCAGTTAACATGGAACTGGAAATGAAGAAATGATAAATTAGGTATAAGCCAAGCATTGAAGCTAGATATTAGGAATAACTATATCTCAGTTGTTAGAAGGAAAAAATACAGTGTATCTTCTCAGTCAAGGGCAAACTATGAAATAAAATGGTATTTAATGGGAATAAGAAATATTACTTTTAAGTTTTTAATAATTCAGAGTATTACATAAATGCTAAATGATGATGACAAAAACGATCAGGCCTTTTTTTTTTTTTTTTTTTTGAGACGTAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCGGCTAATTTTTGTAT 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Task1_train_5412 | Given a variant located on Chromosome 2 and affecting ABCA12 (ATP binding cassette subfamily A member 12), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Lamellar ichthyosis | CACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTCGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTACAATTAGCTGGGTGTGGTGGCGGATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTCTCTTGAACCCGGGAGGTGGAGGGTGTAGTGAGCCAAGATTTATGCCACTGCACTCCAGCCTGGGTGACAGACGAGAGTCCATCTCAAAGGGAAAAAAAAAAAAAAGAAAGGAAAAAAAGAAGAAAAACTCAGAAGGGTGTTCTTAAATATTTGGACGCATTTTTTTTCATATAAATTAACAGCAAATAATCCTTTATTATGCTGAGTGACTAAATGTTCACCATTTGTCATGTGGGCATTGGCAATTCTTCACAGTCTATTAGAATTTTGCTCCCATGGGTTCATTTTGCATTGTTTTTCTCTCTCTCTTCCCCTTTCTTCATTATGAAAAAGCAATAATTTAAGACTTTTTGAATATTCCTCTCTGATTATTCCACTCCACTCTGATTACTCCGTTGCTTCACATCCTGTCAGCACTTACTTAGTCTGTTTTCAGTTTATTTTCATTTGTGTATGTTTGATATCTCTAATTAGATTCTTAGCTCCTCTAAGCATTAAACTTTGAAACTTCTGTTGGATTTGCATGCTCTCAAAAAGGCCAGTTAAGTGCTCAACTCACAGCGGGCAGTACATAGATATTAACCAATTGACCCAGAAAGTTGTCTGGGAGAAAAATCTTCAAAATCTTCAGAAAAGAAAGAGCCAATCTTAGACTTTTAAAAGATATCATATTCGATAAATATGTACAAGCATGATGTATCTATACAAATAAATTTTAAAATTTTTAAAAAGATATCATAAACAGAAAAGTCGTCAAGCTGGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTATCTCACTCTGTCATCCAGGCTGGAGTGCAGTGACTTGATCATAACTTACTGCACCCCTGCACCCTTGACCTCTTGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCTGACTAGCTAGGACTACACATGCCAGCCACCACAGTCAGCTGTTTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTATTATTATTGACAGCGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCCTCAGTTTGCTTTTGTATATGCCAGAGGGCAGAAGTATGACTGTTGGGTGGAGAAGTTCTGAGAAACTACTCATACCAGTTTTGTTCTTGGATATAACATCCCATATACTTCGGCGAGAACATGGGTCAACTCCAGTAGATGGTTCATCCAAAATTACTACCCTTGATCCACCAATGAGAGCTATGGATATAGATAACTTCCTCTTCATGCCTCCTGACAGTGTTCCAACTCTCTTATGACGATGGCTATATAGTCCAGTATCTTTTAAAGTCCTTCAAAAATAATGTATGATGGTTATTTTTTTACAGATATACTATTTGAGTACTGGAAACATACAATAACCCTAATTGATATGTATTCACTAGGTAACTATTATGTGCTCAGTAAGGTACAATAAACTCTTGAGGATTCATAATATAGTTTTCTATTATTTATCACCTGGATACAAAATTAATACTCAAAAAATTAACTTTTTACAAAGTACAAAATTAATGTACTTTACAAAGTACAAAATTAATACTCAGAAAAAAACACAAAGGAATATATAATTCATTCCTTTGACAAATATCTAGAGAGTTCCTACCTATTTTGTGCCAGGCTGTGTTTTATGTACTTGGGAAAAGCAGTGAACACATAAAATTTCTATTCATAAGGAGATTATGTTCTAGTAAGTGTGTGTATTGGGAGGGATATAGGGAAATCCAGTCAATAAATATATTCTCAAGTAAGTTTTGGTGGTGATAAGTGCAATTAAAAAAAATAAAGCAGTGAATATAAGATAAGGAGTGGCTGGGACATGCTATTATAGGCATCAATTTTATATATGGTAGTCATCTCAGAAAAGGTGACATTTTGGCACAGACCAGGAAAGCGGTCATTTGACCAAGATTAAGACAAATGGCCATCTGGGGGGGTAGGTGCTGTAAGTAGAGAGAAGAGAAAGTAAAAAGCCCTGAGGCTGGAGCAGGCCTAGGACAGTCACGTGTGTAGCTAGGCCAGTGTGCCTTGAGCAGAGTGAATGTGGAGGTGAGTGGAAGGACATGAAATCAGAAGTGAGAATGGAGGCAAATCACTTAGGACCTCCTAAGTCTTGATAAGGATGTTATTGAGTATTATACTGAGCATGGAAGGAAGCCACTGGACGATTTAAATCCAGGAGTGACATAGTCTGATTTGCAGTTGAAAAAGATCACCCTGGTTGCTCTTTGAAGAACAGATTTCACAAGAGATGAGTGAAATCCAAGAATCCACTTAGGAGGCTTGGACCAGGGTAGTAGCCATGGAGATCAGAAGCAAAGGATTCGGGGCAATATGGGAGCCACAGATGAAGAGAGTTAAACAATTTCAGTGTAATAACTGGCCGGTAAGGATAATGACCTTAAATGTTTGCAATATTAAATAAGTAGAAAAACTAAAAAGTAATTATTTCGTGAGAAAATATTTCCTATTGGTATCATTACCAGAACTTTACCAACCAAGCTATGGGTCTTTGAGAGGAGTTAGCAACTTAGGTTCTCATTCCTGTCTTAACTTGCCTTTTTACTTCCTCGTGGAGCTGCTTTTTAGTCCAGTGAGGAACTTTGATGGAACCATATAGGAGAAGGTGCTCCTTAGTAGTGAGGTAACTGAACAAGACGTCGTGCTGCATACAGACTCCCATGTTCTTCCGTACCGTGTGTAGGTCTGTTTTGATATCTTTTCCATATACAAAAATGGTGCCTGCTGAGGCCCCAAACAGCCCAGTTAACATGGAACTGGAAATGAAGAAATGATAAATTAGGTATAAGCCAAGCATTGAAGCTAGATATTAGGAATAACTATATCTCAGTTGTTAGAAGGAAAAAATACAGTGTATCTTCTCAGTCAAGGGCAAACTATGAAATAAAATGGTATTTAATGGGAATAAGAAATATTACTTTTAAGTTTTTAATAATTCAGAGTATTACATAAATGCTAAATGATGATGACAAAAACGATCAGGCCTTTTTTTTTTTTTTTTTTTTGAGACGTAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCGGCTAATTTTTGTAT 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CACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTCGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTACAATTAGCTGGGTGTGGTGGCGGATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTCTCTTGAACCCGGGAGGTGGAGGGTGTAGTGAGCCAAGATTTATGCCACTGCACTCCAGCCTGGGTGACAGACGAGAGTCCATCTCAAAGGGAAAAAAAAAAAAAAGAAAGGAAAAAAAGAAGAAAAACTCAGAAGGGTGTTCTTAAATATTTGGACGCATTTTTTTTCATATAAATTAACAGCAAATAATCCTTTATTATGCTGAGTGACTAAATGTTCACCATTTGTCATGTGGGCATTGGCAATTCTTCACAGTCTATTAGAATTTTGCTCCCATGGGTTCATTTTGCATTGTTTTTCTCTCTCTCTTCCCCTTTCTTCATTATGAAAAAGCAATAATTTAAGACTTTTTGAATATTCCTCTCTGATTATTCCACTCCACTCTGATTACTCCGTTGCTTCACATCCTGTCAGCACTTACTTAGTCTGTTTTCAGTTTATTTTCATTTGTGTATGTTTGATATCTCTAATTAGATTCTTAGCTCCTCTAAGCATTAAACTTTGAAACTTCTGTTGGATTTGCATGCTCTCAAAAAGGCCAGTTAAGTGCTCAACTCACAGCGGGCAGTACATAGATATTAACCAATTGACCCAGAAAGTTGTCTGGGAGAAAAATCTTCAAAATCTTCAGAAAAGAAAGAGCCAATCTTAGACTTTTAAAAGATATCATATTCGATAAATATGTACAAGCATGATGTATCTATACAAATAAATTTTAAAATTTTTAAAAAGATATCATAAACAGAAAAGTCGTCAAGCTGGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTATCTCACTCTGTCATCCAGGCTGGAGTGCAGTGACTTGATCATAACTTACTGCACCCCTGCACCCTTGACCTCTTGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCTGACTAGCTAGGACTACACATGCCAGCCACCACAGTCAGCTGTTTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTATTATTATTGACAGCGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCCTCAGTTTGCTTTTGTATATGCCAGAGGGCAGAAGTATGACTGTTGGGTGGAGAAGTTCTGAGAAACTACTCATACCAGTTTTGTTCTTGGATATAACATCCCATATACTTCGGTGAGAACATGGGTCAACTCCAGTAGATGGTTCATCCAAAATTACTACCCTTGATCCACCAATGAGAGCTATGGATATAGATAACTTCCTCTTCATGCCTCCTGACAGTGTTCCAACTCTCTTATGACGATGGCTATATAGTCCAGTATCTTTTAAAGTCCTTCAAAAATAATGTATGATGGTTATTTTTTTACAGATATACTATTTGAGTACTGGAAACATACAATAACCCTAATTGATATGTATTCACTAGGTAACTATTATGTGCTCAGTAAGGTACAATAAACTCTTGAGGATTCATAATATAGTTTTCTATTATTTATCACCTGGATACAAAATTAATACTCAAAAAATTAACTTTTTACAAAGTACAAAATTAATGTACTTTACAAAGTACAAAATTAATACTCAGAAAAAAACACAAAGGAATATATAATTCATTCCTTTGACAAATATCTAGAGAGTTCCTACCTATTTTGTGCCAGGCTGTGTTTTATGTACTTGGGAAAAGCAGTGAACACATAAAATTTCTATTCATAAGGAGATTATGTTCTAGTAAGTGTGTGTATTGGGAGGGATATAGGGAAATCCAGTCAATAAATATATTCTCAAGTAAGTTTTGGTGGTGATAAGTGCAATTAAAAAAAATAAAGCAGTGAATATAAGATAAGGAGTGGCTGGGACATGCTATTATAGGCATCAATTTTATATATGGTAGTCATCTCAGAAAAGGTGACATTTTGGCACAGACCAGGAAAGCGGTCATTTGACCAAGATTAAGACAAATGGCCATCTGGGGGGGTAGGTGCTGTAAGTAGAGAGAAGAGAAAGTAAAAAGCCCTGAGGCTGGAGCAGGCCTAGGACAGTCACGTGTGTAGCTAGGCCAGTGTGCCTTGAGCAGAGTGAATGTGGAGGTGAGTGGAAGGACATGAAATCAGAAGTGAGAATGGAGGCAAATCACTTAGGACCTCCTAAGTCTTGATAAGGATGTTATTGAGTATTATACTGAGCATGGAAGGAAGCCACTGGACGATTTAAATCCAGGAGTGACATAGTCTGATTTGCAGTTGAAAAAGATCACCCTGGTTGCTCTTTGAAGAACAGATTTCACAAGAGATGAGTGAAATCCAAGAATCCACTTAGGAGGCTTGGACCAGGGTAGTAGCCATGGAGATCAGAAGCAAAGGATTCGGGGCAATATGGGAGCCACAGATGAAGAGAGTTAAACAATTTCAGTGTAATAACTGGCCGGTAAGGATAATGACCTTAAATGTTTGCAATATTAAATAAGTAGAAAAACTAAAAAGTAATTATTTCGTGAGAAAATATTTCCTATTGGTATCATTACCAGAACTTTACCAACCAAGCTATGGGTCTTTGAGAGGAGTTAGCAACTTAGGTTCTCATTCCTGTCTTAACTTGCCTTTTTACTTCCTCGTGGAGCTGCTTTTTAGTCCAGTGAGGAACTTTGATGGAACCATATAGGAGAAGGTGCTCCTTAGTAGTGAGGTAACTGAACAAGACGTCGTGCTGCATACAGACTCCCATGTTCTTCCGTACCGTGTGTAGGTCTGTTTTGATATCTTTTCCATATACAAAAATGGTGCCTGCTGAGGCCCCAAACAGCCCAGTTAACATGGAACTGGAAATGAAGAAATGATAAATTAGGTATAAGCCAAGCATTGAAGCTAGATATTAGGAATAACTATATCTCAGTTGTTAGAAGGAAAAAATACAGTGTATCTTCTCAGTCAAGGGCAAACTATGAAATAAAATGGTATTTAATGGGAATAAGAAATATTACTTTTAAGTTTTTAATAATTCAGAGTATTACATAAATGCTAAATGATGATGACAAAAACGATCAGGCCTTTTTTTTTTTTTTTTTTTTGAGACGTAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCGGCTAATTTTTGTAT 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Task1_train_5413 | An alteration has been detected in ABCA12 (ATP binding cassette subfamily A member 12) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive congenital ichthyosis 4A | TTCATTATTCAGCTCCAGGATTGCTCTATATATCTATCAGACAATACCACTTCTCTGTGAGATTTCTTACAGGGTCCTTCAACTCAGTATGTTTAAAACCGAGCTCATGATCTTTACCCTAAAAGCCACACCCTCATTGATTTTGCCTCTTTCCCCATGTGATAAATTCATACACTGGTTGCACGAGACTGGAATCTGTAAGTCATTTTTGCACTCTCCTCCTATCTTAATCTCCTAACTACATGCCCATCTCACCGTTTTCACAGCTATCCTCATGGGACCATCACCATCACCACCTGCCTAACCCATCACTCTAAGCTCCTAACTCTACTTCCCGCATGCTCTTTGGTCATCTCTAGTCCTTTTCTCTATACTGTGATTAGAATATTCTCACCTGGATAATTCCTCATCATCTTTCAGATAGTTAGTAAACTGGGCAATTATTTAATACCCATCTCCTCCACTATAATGTAAGCTCCATGAGGTCAAGGAAAGGTCCTGTTTTCTAAGCACTTTGTCTCAGTAACCTACTCAGTGCCTTGCAGTGCAGACTTCTGGATTAAATTATGAACAAAGGAATATGCAGTTTTCCCATATGAACACTGAAATACAAATAACATACTTTATATTAAAGGTTTCTATTTAGAACAATAAAATGGGGGCATTCTCAGCTAAAATTATAGCCTCTTCAAGAGCCTTCTCTGTTCCTTTTCTTCATTAGCCTCTTATTGCCTATTAGAAACATGAATGGAGCTGGAGGCCATTATCTTTAGCAAATTAACACAGGAACAGAAAACCAAATACAAATATGTTCTCACTTATAAGTGGGAACTAAATGATGAGAATACACGGACACAGAGAAGGTAACACCACACAGTGGGGCTTTCGGAGGGTGGAGGGTGGGAGGAAGGAGAGGATCAGGAAAAATAAGTAATGGGCACTAGGCTTAATACCTGAGTGATGAAATAATCTGTAAAACAAACCCTCATGATGAATTTACCTGTGTAACAAACCTGCACTTGTGCCCCTGAACTTAAAATAAAAGTTAAAAAAAAATCTGGCCTTTTTGGCATTGTATTCTCCCTGGAAAGCCAACTCTGACTTTAAACAGGCCATGCAAATAGCAGAGGCTGTATGCTCACTCATTTCATGACCTCGTTTGTCCCCTTTTATTTACAAAAAAAAATTAATTCCAGTGTTTTTGCAGTCACTGAGCTGATTCGTGATGATACTAAGTAAGATATGCAGCAACTGATCCTTTTTCTCAAACAAGGGCTCGAGCACCAGCAGCATCTTAGAGCTGACTCAGCAACTAAGTGAATATGGAGCATTGGAGGCAAATCACATAAAAATAACTCAAAAGAATGTCACTTTAAAAACAGTTGAATCTCTTCTCCATTCTGACACAGGAAAATGCTACATAGGTGAGGAGTGAGAAAGAACAGCTTATGTTCTGCTCCTGGCCTTTTTGATTGCTGTCTGATAGCTGGTGGTTCCTTTGTTTCTTTATGAGTCAAGGCAAAGGTTTCCCATGAAGGAGCAGCTGAGGCTAAGTGTGTTTATATCAGGATGCAAAATTTCATACTTATATATATGCCAGGTTAGAAATGCAAATAAATGAAACAGGGTGGGTGTATGAAGCAGTGCAGCTTGGTAGAGACCAGGGATGAGCCAGAAAACAGATACTCCCTTTAAGAGATCAGTTACTAATGAGCCCCAATCAATAGTCTCTACCTAAGAATATGAACTCAATGTTGTAGAATTTCCTATTATCTAAGAGGTGCCAAGAATATTTATTTTTATTAGAAACTCCCTATTTTACAAAATTGGCACTGAATTAAAAATTTTTTAAAGTATTACAACCTTTGATTTTGACTCCATTCTATAGCATACAAGTTGAACCATCTTCCTCCATCTGGGAAATGTAATAACTTTATGTTTTATAAACATAGGTTAGTTTATTTTTTTTACACCTGTATTTTTTGTAACATGCTTCCATGGCAATAAATGTCAAAAAGTTAACATACATGGTAGTAGTTTTCCCAGCTCCATTGGGCCCCAGCAATGAAGTAATATGCCCTTCATAAAAGTTCAGATTGAGGTTATCAACAGCAACTTTTGAGCCATAGATCTTTGTGACCCCATGCAGGGCAACCCCGACTGTGAGATCTTTAGGTTCAGGCTCGATGTTAGAGGAAAACATGTATTCAGGACCTGGAGAGAAATCAAGGGAAGAGTTGTAAACTCACAAGTAAGGTAATGCAGCTAGAGTTAGACTTTATCTTTATTAAAAATTTAAGACTATAAAAATATAACCCTCTAAGTAAAATAAAAAATCCAGAAACAAATGATTTATTATAGTCTTCAGCCTCCTCACTTGGTTGCAGAATGAATAAGAGTGGAGAACCAGGGTTCATTTCACCCTTCTTTGTTGGAAAAAGCAGTCCCAGAATATGGTATTATAATTATAAATTCTCCTTTATTCAACAGATATCAAATAGTCAAAAGATATGTCTAAGGCTTGGTCCTCTGGTTGGGCAGGATGATACCAAATTATAAAATAAATGCCTCCAAAGTTGTGATTTTAGAGTGATAAGACTAGTTGAGATTGTGGTTTATAGAATCCAGTTCATTAATAACTATCTACACCTCCTTCAGGCATCACAAAAGGACCGCTTAGTGGCCCGTACTCACTTTATAATGACACGACTCACCTAGTATCAGGAAGACACAAGCTTTGAACTACTTTTCCAGTATTTGTGATGGGTTATGCTAAATTACTCAAACTTGTTACTTGGTTACCCCTTATGACTGGTGACAGATGGCTGGAGTTAGGGGTGTAGATTGTGGCCAAGGAACAAAATTTTTCTCTGTGTGAGTCTAACTGGACCACAAAGGGATCTGCAATCTTGGCCTAATTAGCACCATATGCTAACCAACTGAGCTAATGAGCCCAGAAAAAGCCACAATTTAATCCCCATAAGAGTCCAAAGACGCATGTGTAGACATTTTCATCCATGACTAAAAGGATGATAATTTTGCCATTTAGAAAAAAATAATTGAAACTACTAGTCATGTAATTTCATATCATTTCTCTCATAACAAAGCACGCTGTTGACCGACTTGTCTTACTGGCAGATGGGTTGGTGTTCTGCATCATGATGTTAGTAAACATGAGGCCATTGCTCTTCTCAGGCTTCACCTCTGCACACCCAAATCGCTCCTTCCAATAGGAAGGAAGAATTGGAAAATACCAGGGAGCTGCCATACCGTATGTCCCTGGAATAAAAATATATCAGGAACAGTGAGTTTTAGTTGACTGTTAACATTTATCATCAGAAACAAAACAGTAGATCCTATGTATGGTTTAGGAAGTAGTTTTATTTTTTGACACTATATAAAACTAAAAGGTGGTCTCAGTTTCCATAGTAAAGCAAAAAACGATGCTTTTTTTCCTTGTTAGTTTTTAAGCAGCTTTATTTACATTTACTAAAACTTATCTAACTGTACACTTATTGTAATGGAAAAAGCCACTATTTATCTATGAAATACATGTCTACAAGTTGTGATTTTACAGTGATAAGACTAGTTCAGATCCAGATTCTGGGTTTCCAGCCCAGAAAAAGCCACAATTTAATCCCCACAAGGGTCCAAACAGACATGTGTAGACATATTCATCTATGACCAAAAGGATAATTTTGCCACTTAGAAAAACATAATTAAAACTGTTAGTCATATAATTTCATATCATTTCTCTCATAACAATGCATGCTGTTGGCCTACTTGTCTTATTATTGTAAGTGTACAGGTAGATAAGTCTTAGCTAATGTATAAAGTTGTGCAATTCAGTATTAGAACATTTCTATAACTCAAAAAATTTGTCTCATGCCCATTTGCAGATAATCCCTGCTCCCACCTCACATCCCAGGCAATCATTGATCTGCCTTCTGTCTCTATCTGTCTTTCACAGATCTTACATAAATGAAATCATATTCTTTTATTCATGTATAACACCAAAAAATGCATACATATAAGTAGGGCTAAATGGAAAACTAAGCATGTTAGAAAGGATGACTGCTTGAGACCTAGAAGGGGG 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TTCATTATTCAGCTCCAGGATTGCTCTATATATCTATCAGACAATACCACTTCTCTGTGAGATTTCTTACAGGGTCCTTCAACTCAGTATGTTTAAAACCGAGCTCATGATCTTTACCCTAAAAGCCACACCCTCATTGATTTTGCCTCTTTCCCCATGTGATAAATTCATACACTGGTTGCACGAGACTGGAATCTGTAAGTCATTTTTGCACTCTCCTCCTATCTTAATCTCCTAACTACATGCCCATCTCACCGTTTTCACAGCTATCCTCATGGGACCATCACCATCACCACCTGCCTAACCCATCACTCTAAGCTCCTAACTCTACTTCCCGCATGCTCTTTGGTCATCTCTAGTCCTTTTCTCTATACTGTGATTAGAATATTCTCACCTGGATAATTCCTCATCATCTTTCAGATAGTTAGTAAACTGGGCAATTATTTAATACCCATCTCCTCCACTATAATGTAAGCTCCATGAGGTCAAGGAAAGGTCCTGTTTTCTAAGCACTTTGTCTCAGTAACCTACTCAGTGCCTTGCAGTGCAGACTTCTGGATTAAATTATGAACAAAGGAATATGCAGTTTTCCCATATGAACACTGAAATACAAATAACATACTTTATATTAAAGGTTTCTATTTAGAACAATAAAATGGGGGCATTCTCAGCTAAAATTATAGCCTCTTCAAGAGCCTTCTCTGTTCCTTTTCTTCATTAGCCTCTTATTGCCTATTAGAAACATGAATGGAGCTGGAGGCCATTATCTTTAGCAAATTAACACAGGAACAGAAAACCAAATACAAATATGTTCTCACTTATAAGTGGGAACTAAATGATGAGAATACACGGACACAGAGAAGGTAACACCACACAGTGGGGCTTTCGGAGGGTGGAGGGTGGGAGGAAGGAGAGGATCAGGAAAAATAAGTAATGGGCACTAGGCTTAATACCTGAGTGATGAAATAATCTGTAAAACAAACCCTCATGATGAATTTACCTGTGTAACAAACCTGCACTTGTGCCCCTGAACTTAAAATAAAAGTTAAAAAAAAATCTGGCCTTTTTGGCATTGTATTCTCCCTGGAAAGCCAACTCTGACTTTAAACAGGCCATGCAAATAGCAGAGGCTGTATGCTCACTCATTTCATGACCTCGTTTGTCCCCTTTTATTTACAAAAAAAAATTAATTCCAGTGTTTTTGCAGTCACTGAGCTGATTCGTGATGATACTAAGTAAGATATGCAGCAACTGATCCTTTTTCTCAAACAAGGGCTCGAGCACCAGCAGCATCTTAGAGCTGACTCAGCAACTAAGTGAATATGGAGCATTGGAGGCAAATCACATAAAAATAACTCAAAAGAATGTCACTTTAAAAACAGTTGAATCTCTTCTCCATTCTGACACAGGAAAATGCTACATAGGTGAGGAGTGAGAAAGAACAGCTTATGTTCTGCTCCTGGCCTTTTTGATTGCTGTCTGATAGCTGGTGGTTCCTTTGTTTCTTTATGAGTCAAGGCAAAGGTTTCCCATGAAGGAGCAGCTGAGGCTAAGTGTGTTTATATCAGGATGCAAAATTTCATACTTATATATATGCCAGGTTAGAAATGCAAATAAATGAAACAGGGTGGGTGTATGAAGCAGTGCAGCTTGGTAGAGACCAGGGATGAGCCAGAAAACAGATACTCCCTTTAAGAGATCAGTTACTAATGAGCCCCAATCAATAGTCTCTACCTAAGAATATGAACTCAATGTTGTAGAATTTCCTATTATCTAAGAGGTGCCAAGAATATTTATTTTTATTAGAAACTCCCTATTTTACAAAATTGGCACTGAATTAAAAATTTTTTAAAGTATTACAACCTTTGATTTTGACTCCATTCTATAGCATACAAGTTGAACCATCTTCCTCCATCTGGGAAATGTAATAACTTTATGTTTTATAAACATAGGTTAGTTTATTTTTTTTACACCTGTATTTTTTGTAACATGCTTCCATGGCAATAAATGTCAAAAAGTTAACATACATGGTAGTAGTTTTCCCAGCTTCATTGGGCCCCAGCAATGAAGTAATATGCCCTTCATAAAAGTTCAGATTGAGGTTATCAACAGCAACTTTTGAGCCATAGATCTTTGTGACCCCATGCAGGGCAACCCCGACTGTGAGATCTTTAGGTTCAGGCTCGATGTTAGAGGAAAACATGTATTCAGGACCTGGAGAGAAATCAAGGGAAGAGTTGTAAACTCACAAGTAAGGTAATGCAGCTAGAGTTAGACTTTATCTTTATTAAAAATTTAAGACTATAAAAATATAACCCTCTAAGTAAAATAAAAAATCCAGAAACAAATGATTTATTATAGTCTTCAGCCTCCTCACTTGGTTGCAGAATGAATAAGAGTGGAGAACCAGGGTTCATTTCACCCTTCTTTGTTGGAAAAAGCAGTCCCAGAATATGGTATTATAATTATAAATTCTCCTTTATTCAACAGATATCAAATAGTCAAAAGATATGTCTAAGGCTTGGTCCTCTGGTTGGGCAGGATGATACCAAATTATAAAATAAATGCCTCCAAAGTTGTGATTTTAGAGTGATAAGACTAGTTGAGATTGTGGTTTATAGAATCCAGTTCATTAATAACTATCTACACCTCCTTCAGGCATCACAAAAGGACCGCTTAGTGGCCCGTACTCACTTTATAATGACACGACTCACCTAGTATCAGGAAGACACAAGCTTTGAACTACTTTTCCAGTATTTGTGATGGGTTATGCTAAATTACTCAAACTTGTTACTTGGTTACCCCTTATGACTGGTGACAGATGGCTGGAGTTAGGGGTGTAGATTGTGGCCAAGGAACAAAATTTTTCTCTGTGTGAGTCTAACTGGACCACAAAGGGATCTGCAATCTTGGCCTAATTAGCACCATATGCTAACCAACTGAGCTAATGAGCCCAGAAAAAGCCACAATTTAATCCCCATAAGAGTCCAAAGACGCATGTGTAGACATTTTCATCCATGACTAAAAGGATGATAATTTTGCCATTTAGAAAAAAATAATTGAAACTACTAGTCATGTAATTTCATATCATTTCTCTCATAACAAAGCACGCTGTTGACCGACTTGTCTTACTGGCAGATGGGTTGGTGTTCTGCATCATGATGTTAGTAAACATGAGGCCATTGCTCTTCTCAGGCTTCACCTCTGCACACCCAAATCGCTCCTTCCAATAGGAAGGAAGAATTGGAAAATACCAGGGAGCTGCCATACCGTATGTCCCTGGAATAAAAATATATCAGGAACAGTGAGTTTTAGTTGACTGTTAACATTTATCATCAGAAACAAAACAGTAGATCCTATGTATGGTTTAGGAAGTAGTTTTATTTTTTGACACTATATAAAACTAAAAGGTGGTCTCAGTTTCCATAGTAAAGCAAAAAACGATGCTTTTTTTCCTTGTTAGTTTTTAAGCAGCTTTATTTACATTTACTAAAACTTATCTAACTGTACACTTATTGTAATGGAAAAAGCCACTATTTATCTATGAAATACATGTCTACAAGTTGTGATTTTACAGTGATAAGACTAGTTCAGATCCAGATTCTGGGTTTCCAGCCCAGAAAAAGCCACAATTTAATCCCCACAAGGGTCCAAACAGACATGTGTAGACATATTCATCTATGACCAAAAGGATAATTTTGCCACTTAGAAAAACATAATTAAAACTGTTAGTCATATAATTTCATATCATTTCTCTCATAACAATGCATGCTGTTGGCCTACTTGTCTTATTATTGTAAGTGTACAGGTAGATAAGTCTTAGCTAATGTATAAAGTTGTGCAATTCAGTATTAGAACATTTCTATAACTCAAAAAATTTGTCTCATGCCCATTTGCAGATAATCCCTGCTCCCACCTCACATCCCAGGCAATCATTGATCTGCCTTCTGTCTCTATCTGTCTTTCACAGATCTTACATAAATGAAATCATATTCTTTTATTCATGTATAACACCAAAAAATGCATACATATAAGTAGGGCTAAATGGAAAACTAAGCATGTTAGAAAGGATGACTGCTTGAGACCTAGAAGGGGG 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Task1_train_5414 | This mutation occurs in ABCA12 (ATP binding cassette subfamily A member 12) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | GACATTTTCATCCATGACTAAAAGGATGATAATTTTGCCATTTAGAAAAAAATAATTGAAACTACTAGTCATGTAATTTCATATCATTTCTCTCATAACAAAGCACGCTGTTGACCGACTTGTCTTACTGGCAGATGGGTTGGTGTTCTGCATCATGATGTTAGTAAACATGAGGCCATTGCTCTTCTCAGGCTTCACCTCTGCACACCCAAATCGCTCCTTCCAATAGGAAGGAAGAATTGGAAAATACCAGGGAGCTGCCATACCGTATGTCCCTGGAATAAAAATATATCAGGAACAGTGAGTTTTAGTTGACTGTTAACATTTATCATCAGAAACAAAACAGTAGATCCTATGTATGGTTTAGGAAGTAGTTTTATTTTTTGACACTATATAAAACTAAAAGGTGGTCTCAGTTTCCATAGTAAAGCAAAAAACGATGCTTTTTTTCCTTGTTAGTTTTTAAGCAGCTTTATTTACATTTACTAAAACTTATCTAACTGTACACTTATTGTAATGGAAAAAGCCACTATTTATCTATGAAATACATGTCTACAAGTTGTGATTTTACAGTGATAAGACTAGTTCAGATCCAGATTCTGGGTTTCCAGCCCAGAAAAAGCCACAATTTAATCCCCACAAGGGTCCAAACAGACATGTGTAGACATATTCATCTATGACCAAAAGGATAATTTTGCCACTTAGAAAAACATAATTAAAACTGTTAGTCATATAATTTCATATCATTTCTCTCATAACAATGCATGCTGTTGGCCTACTTGTCTTATTATTGTAAGTGTACAGGTAGATAAGTCTTAGCTAATGTATAAAGTTGTGCAATTCAGTATTAGAACATTTCTATAACTCAAAAAATTTGTCTCATGCCCATTTGCAGATAATCCCTGCTCCCACCTCACATCCCAGGCAATCATTGATCTGCCTTCTGTCTCTATCTGTCTTTCACAGATCTTACATAAATGAAATCATATTCTTTTATTCATGTATAACACCAAAAAATGCATACATATAAGTAGGGCTAAATGGAAAACTAAGCATGTTAGAAAGGATGACTGCTTGAGACCTAGAAGGGGGAACCCAACTTGTCTTCTTCCGTTAGAATCTGGTAAATTCTCCTTAGAATTAGGAGATTTGGTTTTTCCCTTATTATCTCTCACACTCCTATTTAGAGAGACTGGATTGATTTGACACTATTCTAAGCTTCTTAATTCACTCCATCTTTTAAAGGAATATCCGAGAGGAAATTTAGCAGTATATTATCTCATCCTGAAAATTTTTTGTTAGCTTTGGGATTTGAATACTTCTTTTTGGAGATTATATATGGCAAATAAGATTTTTTTTTAATTAAAAAAAAGTTAAAGGCCGGGCATGGTGGCTCTTGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGATCAGAAGCTCGAGAGCAGCCTGGCTAACATGGTGAAACCCCGGCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAATACATACATATATATATATATATATATATAATATTTTTATTTTTTAATTTAAAAATTTTTTGCAAATAAAATATTAGAACATATTATTAGTTGATTTATATTGAAGTCAACCATAAAAAGCATGTATCTGTAGGAAGCACATTCATACCTGGGAAGACATTCCTGACATACCAAGCAATAAGGAAATAAATGAAAGAGTCAGCTAGGATTAGACAGCACAGCCAGCCAAATGAGGTGGTGTCATCCTGAACCGGGGAGGTGTACATATTTTCCCACTGAAGACCTAAAAAGTGAACACAAGTGTTTATTCTTCTGTGACACACAGCACAGTTGTGAAAGATAAAATCCAGTTTTAAAGAAAGGGGACCTACCAATGCCCTGTTCTTCGTATCGTGCAATGTATTGGCTTGCATAGCTGAATGCTGTTGGGGACAGCAGGCTCTGTGAAGAAAGGAAACGGCAATGATAGTTCTTGTAGATTTCATGTATTTCACCCAGAGGTATCCTAAAATACTTAAAACTTTGGACATTTGTATAGATAAAATTGATGCTCATTCTCTAAGCATATTTAAAAATACAGCAGTCCCTTACCAACCATGCTACAACTGTGAAGCAAGAGCAGAGAGAATAGCAGAAAACAAAAACAGGAAAATTACAACTTGAAAACCATTCCTTAAAAAATCAAAATATACATTTGAACTCATTAAATGTTGCTCAGCAAGTAATAAAATAGTTAATTATGGAGTAATTCAGTATTAAGACTAAAATTTACCAAAAATGTTAAGGGCCAGAAGGCATTTTCACTCCATACATTTATTTCAGGTAATAGAAGTACTATGAATAAAAATATACTAAAATATCAGTTGATTGAATATTGATAATTGCAACAAATTAGAAATTTAAATATTGTTTAAACCCAAAGTTGTCAATGCTAGATAAAGTTATTCATTACTTTTTATTTCCATAAATAGCAAAGTTTTAATATGATGAAATTAGCTTCTGCTTTCTAAATTTCAGTCAGTAATCTTAATGCTTTAATTAAAATTCTTAATTTAGTGCTTCTGAATTGACAAGGCAGGAGAGAATTTAAGGTTGCTTATATGCTGTTGGTGCATTTGTCTTTACACCTTTAAGCTATATTATATGTCATGAGAACCATGAAAATTGTTCACATATGAGAATAATTCCAATACTAGAGGCTCCAAGACGTTTCAGGAATTGGTCCAGAGAGAAGTCAGAATTCTTGAAGACCTCTAAAACATGATGTATGACATTTTAACTGTTCTTTCTTTAGGAACTATTTCTTAACAGTATCACATATCATGGTTTTGTAAGCTCTTCATTGTCTTGTATGGTATACAGTGATGTAAGAAAAGCTATCATTAGGACATTAAGCTTACTTTGCTTTCACTGAATTTCAAATTAAGATAAGTGAACTTTCAGTCTGAGAATCCAAAAACAAACAAACAAACAAACAAAAATGGGTAATTTCCCACTCTGCCATTCCAACGGTTGACTTACCATGAACACTTTCAATACATAGCTCAACTCATTCTCCACTGTAACCAGAACAATAAATGGAAAGAAGGCAATGATGTAGATGAGGCTTCCGATCAGAGCTGCAATGTTGGTGTTGTTGAAGAAGACACTGATAAGATAGCTCATGGCAATAACCGAGAAGCTGTAGTCCGAAAAATACAGGAACAAAATGAACCCATTTGTTTTAGGAAGAATATTGCCAAACTTGAGTATAATGATGAGGATCACGATGGTAACCAGTAAAAATCCAACACTCTCTATAAGCCAGGCAAAGAAATGGCTGCAGGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGTGAGGCGCTTGTTATGCTGATATTCTTCCAAATAAAAATTATTCCCTGTATTATGTCAAAATGTCATGATAGTCTCTCTGTATATGGAACTAGGCATTTTAATAATTTACATAAATCAAGAATTTATCCATGCTTGCTATGTGAAATATGCCTATATACACCAGAACAACTTAGATTATTTGTTCACAGAATGGCACAATATAATAAACAATTTGGATGGTGAGGGTTTAATTACAGTTCCACTTTATAATTGTTACCCAGCTGACATCTCTAGATTAAACTAATTTAGAATAGATTATCAAATTTATGGTATCCCCTGTAGAATTTTACATGATTTTGACATTTATGCAGGCATGAGCATTTCAAACTGGTAAAAAACCATGGCTTAACTATTAGTTCAGTGTAGAGACTGAGCTCATAAAAATCCATAATTTTTTTTTTTACTAAACACTAATGAACAACACAATCAGTATTGATGTTCCTGAGAGAAACAGTATACCTGATTCCTAAGAATTTAAAACACATAACTTAAGGGAGACCTCCTGCCTTTAGCTATAGCCTTCCC 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GACATTTTCATCCATGACTAAAAGGATGATAATTTTGCCATTTAGAAAAAAATAATTGAAACTACTAGTCATGTAATTTCATATCATTTCTCTCATAACAAAGCACGCTGTTGACCGACTTGTCTTACTGGCAGATGGGTTGGTGTTCTGCATCATGATGTTAGTAAACATGAGGCCATTGCTCTTCTCAGGCTTCACCTCTGCACACCCAAATCGCTCCTTCCAATAGGAAGGAAGAATTGGAAAATACCAGGGAGCTGCCATACCGTATGTCCCTGGAATAAAAATATATCAGGAACAGTGAGTTTTAGTTGACTGTTAACATTTATCATCAGAAACAAAACAGTAGATCCTATGTATGGTTTAGGAAGTAGTTTTATTTTTTGACACTATATAAAACTAAAAGGTGGTCTCAGTTTCCATAGTAAAGCAAAAAACGATGCTTTTTTTCCTTGTTAGTTTTTAAGCAGCTTTATTTACATTTACTAAAACTTATCTAACTGTACACTTATTGTAATGGAAAAAGCCACTATTTATCTATGAAATACATGTCTACAAGTTGTGATTTTACAGTGATAAGACTAGTTCAGATCCAGATTCTGGGTTTCCAGCCCAGAAAAAGCCACAATTTAATCCCCACAAGGGTCCAAACAGACATGTGTAGACATATTCATCTATGACCAAAAGGATAATTTTGCCACTTAGAAAAACATAATTAAAACTGTTAGTCATATAATTTCATATCATTTCTCTCATAACAATGCATGCTGTTGGCCTACTTGTCTTATTATTGTAAGTGTACAGGTAGATAAGTCTTAGCTAATGTATAAAGTTGTGCAATTCAGTATTAGAACATTTCTATAACTCAAAAAATTTGTCTCATGCCCATTTGCAGATAATCCCTGCTCCCACCTCACATCCCAGGCAATCATTGATCTGCCTTCTGTCTCTATCTGTCTTTCACAGATCTTACATAAATGAAATCATATTCTTTTATTCATGTATAACACCAAAAAATGCATACATATAAGTAGGGCTAAATGGAAAACTAAGCATGTTAGAAAGGATGACTGCTTGAGACCTAGAAGGGGGAACCCAACTTGTCTTCTTCCGTTAGAATCTGGTAAATTCTCCTTAGAATTAGGAGATTTGGTTTTTCCCTTATTATCTCTCACACTCCTATTTAGAGAGACTGGATTGATTTGACACTATTCTAAGCTTCTTAATTCACTCCATCTTTTAAAGGAATATCCGAGAGGAAATTTAGCAGTATATTATCTCATCCTGAAAATTTTTTGTTAGCTTTGGGATTTGAATACTTCTTTTTGGAGATTATATATGGCAAATAAGATTTTTTTTTAATTAAAAAAAAGTTAAAGGCCGGGCATGGTGGCTCTTGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGATCAGAAGCTCGAGAGCAGCCTGGCTAACATGGTGAAACCCCGGCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAATACATACATATATATATATATATATATATAATATTTTTATTTTTTAATTTAAAAATTTTTTGCAAATAAAATATTAGAACATATTATTAGTTGATTTATATTGAAGTCAACCATAAAAAGCATGTATCTGTAGGAAGCACATTCATACCTGGGAAGACATTCCTGACATACCAAGCAATAAGGAAATAAATGAAAGAGTCAGCTAGGATTAGACAGCACAGCCAGCCAAATGAGGTGGTGTCATCCTGAACCGGGGAGGTGTACATATTTTCCCACTGAAGACCTAAAAAGTGAACACAAGTGTTTATTCTTCTGTGACACACAGCACAGTTGTGAAAGATAAAATCCAGTTTTAAAGAAAGGGGACCTACCAATGCCCTGTTCTTTGTATCGTGCAATGTATTGGCTTGCATAGCTGAATGCTGTTGGGGACAGCAGGCTCTGTGAAGAAAGGAAACGGCAATGATAGTTCTTGTAGATTTCATGTATTTCACCCAGAGGTATCCTAAAATACTTAAAACTTTGGACATTTGTATAGATAAAATTGATGCTCATTCTCTAAGCATATTTAAAAATACAGCAGTCCCTTACCAACCATGCTACAACTGTGAAGCAAGAGCAGAGAGAATAGCAGAAAACAAAAACAGGAAAATTACAACTTGAAAACCATTCCTTAAAAAATCAAAATATACATTTGAACTCATTAAATGTTGCTCAGCAAGTAATAAAATAGTTAATTATGGAGTAATTCAGTATTAAGACTAAAATTTACCAAAAATGTTAAGGGCCAGAAGGCATTTTCACTCCATACATTTATTTCAGGTAATAGAAGTACTATGAATAAAAATATACTAAAATATCAGTTGATTGAATATTGATAATTGCAACAAATTAGAAATTTAAATATTGTTTAAACCCAAAGTTGTCAATGCTAGATAAAGTTATTCATTACTTTTTATTTCCATAAATAGCAAAGTTTTAATATGATGAAATTAGCTTCTGCTTTCTAAATTTCAGTCAGTAATCTTAATGCTTTAATTAAAATTCTTAATTTAGTGCTTCTGAATTGACAAGGCAGGAGAGAATTTAAGGTTGCTTATATGCTGTTGGTGCATTTGTCTTTACACCTTTAAGCTATATTATATGTCATGAGAACCATGAAAATTGTTCACATATGAGAATAATTCCAATACTAGAGGCTCCAAGACGTTTCAGGAATTGGTCCAGAGAGAAGTCAGAATTCTTGAAGACCTCTAAAACATGATGTATGACATTTTAACTGTTCTTTCTTTAGGAACTATTTCTTAACAGTATCACATATCATGGTTTTGTAAGCTCTTCATTGTCTTGTATGGTATACAGTGATGTAAGAAAAGCTATCATTAGGACATTAAGCTTACTTTGCTTTCACTGAATTTCAAATTAAGATAAGTGAACTTTCAGTCTGAGAATCCAAAAACAAACAAACAAACAAACAAAAATGGGTAATTTCCCACTCTGCCATTCCAACGGTTGACTTACCATGAACACTTTCAATACATAGCTCAACTCATTCTCCACTGTAACCAGAACAATAAATGGAAAGAAGGCAATGATGTAGATGAGGCTTCCGATCAGAGCTGCAATGTTGGTGTTGTTGAAGAAGACACTGATAAGATAGCTCATGGCAATAACCGAGAAGCTGTAGTCCGAAAAATACAGGAACAAAATGAACCCATTTGTTTTAGGAAGAATATTGCCAAACTTGAGTATAATGATGAGGATCACGATGGTAACCAGTAAAAATCCAACACTCTCTATAAGCCAGGCAAAGAAATGGCTGCAGGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGTGAGGCGCTTGTTATGCTGATATTCTTCCAAATAAAAATTATTCCCTGTATTATGTCAAAATGTCATGATAGTCTCTCTGTATATGGAACTAGGCATTTTAATAATTTACATAAATCAAGAATTTATCCATGCTTGCTATGTGAAATATGCCTATATACACCAGAACAACTTAGATTATTTGTTCACAGAATGGCACAATATAATAAACAATTTGGATGGTGAGGGTTTAATTACAGTTCCACTTTATAATTGTTACCCAGCTGACATCTCTAGATTAAACTAATTTAGAATAGATTATCAAATTTATGGTATCCCCTGTAGAATTTTACATGATTTTGACATTTATGCAGGCATGAGCATTTCAAACTGGTAAAAAACCATGGCTTAACTATTAGTTCAGTGTAGAGACTGAGCTCATAAAAATCCATAATTTTTTTTTTTACTAAACACTAATGAACAACACAATCAGTATTGATGTTCCTGAGAGAAACAGTATACCTGATTCCTAAGAATTTAAAACACATAACTTAAGGGAGACCTCCTGCCTTTAGCTATAGCCTTCCC 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Task1_train_5415 | This sequence change occurs on Chromosome 2, altering ABCA12 (ATP binding cassette subfamily A member 12). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive congenital ichthyosis 4B | GGATGATAATTTTGCCATTTAGAAAAAAATAATTGAAACTACTAGTCATGTAATTTCATATCATTTCTCTCATAACAAAGCACGCTGTTGACCGACTTGTCTTACTGGCAGATGGGTTGGTGTTCTGCATCATGATGTTAGTAAACATGAGGCCATTGCTCTTCTCAGGCTTCACCTCTGCACACCCAAATCGCTCCTTCCAATAGGAAGGAAGAATTGGAAAATACCAGGGAGCTGCCATACCGTATGTCCCTGGAATAAAAATATATCAGGAACAGTGAGTTTTAGTTGACTGTTAACATTTATCATCAGAAACAAAACAGTAGATCCTATGTATGGTTTAGGAAGTAGTTTTATTTTTTGACACTATATAAAACTAAAAGGTGGTCTCAGTTTCCATAGTAAAGCAAAAAACGATGCTTTTTTTCCTTGTTAGTTTTTAAGCAGCTTTATTTACATTTACTAAAACTTATCTAACTGTACACTTATTGTAATGGAAAAAGCCACTATTTATCTATGAAATACATGTCTACAAGTTGTGATTTTACAGTGATAAGACTAGTTCAGATCCAGATTCTGGGTTTCCAGCCCAGAAAAAGCCACAATTTAATCCCCACAAGGGTCCAAACAGACATGTGTAGACATATTCATCTATGACCAAAAGGATAATTTTGCCACTTAGAAAAACATAATTAAAACTGTTAGTCATATAATTTCATATCATTTCTCTCATAACAATGCATGCTGTTGGCCTACTTGTCTTATTATTGTAAGTGTACAGGTAGATAAGTCTTAGCTAATGTATAAAGTTGTGCAATTCAGTATTAGAACATTTCTATAACTCAAAAAATTTGTCTCATGCCCATTTGCAGATAATCCCTGCTCCCACCTCACATCCCAGGCAATCATTGATCTGCCTTCTGTCTCTATCTGTCTTTCACAGATCTTACATAAATGAAATCATATTCTTTTATTCATGTATAACACCAAAAAATGCATACATATAAGTAGGGCTAAATGGAAAACTAAGCATGTTAGAAAGGATGACTGCTTGAGACCTAGAAGGGGGAACCCAACTTGTCTTCTTCCGTTAGAATCTGGTAAATTCTCCTTAGAATTAGGAGATTTGGTTTTTCCCTTATTATCTCTCACACTCCTATTTAGAGAGACTGGATTGATTTGACACTATTCTAAGCTTCTTAATTCACTCCATCTTTTAAAGGAATATCCGAGAGGAAATTTAGCAGTATATTATCTCATCCTGAAAATTTTTTGTTAGCTTTGGGATTTGAATACTTCTTTTTGGAGATTATATATGGCAAATAAGATTTTTTTTTAATTAAAAAAAAGTTAAAGGCCGGGCATGGTGGCTCTTGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGATCAGAAGCTCGAGAGCAGCCTGGCTAACATGGTGAAACCCCGGCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAATACATACATATATATATATATATATATATAATATTTTTATTTTTTAATTTAAAAATTTTTTGCAAATAAAATATTAGAACATATTATTAGTTGATTTATATTGAAGTCAACCATAAAAAGCATGTATCTGTAGGAAGCACATTCATACCTGGGAAGACATTCCTGACATACCAAGCAATAAGGAAATAAATGAAAGAGTCAGCTAGGATTAGACAGCACAGCCAGCCAAATGAGGTGGTGTCATCCTGAACCGGGGAGGTGTACATATTTTCCCACTGAAGACCTAAAAAGTGAACACAAGTGTTTATTCTTCTGTGACACACAGCACAGTTGTGAAAGATAAAATCCAGTTTTAAAGAAAGGGGACCTACCAATGCCCTGTTCTTCGTATCGTGCAATGTATTGGCTTGCATAGCTGAATGCTGTTGGGGACAGCAGGCTCTGTGAAGAAAGGAAACGGCAATGATAGTTCTTGTAGATTTCATGTATTTCACCCAGAGGTATCCTAAAATACTTAAAACTTTGGACATTTGTATAGATAAAATTGATGCTCATTCTCTAAGCATATTTAAAAATACAGCAGTCCCTTACCAACCATGCTACAACTGTGAAGCAAGAGCAGAGAGAATAGCAGAAAACAAAAACAGGAAAATTACAACTTGAAAACCATTCCTTAAAAAATCAAAATATACATTTGAACTCATTAAATGTTGCTCAGCAAGTAATAAAATAGTTAATTATGGAGTAATTCAGTATTAAGACTAAAATTTACCAAAAATGTTAAGGGCCAGAAGGCATTTTCACTCCATACATTTATTTCAGGTAATAGAAGTACTATGAATAAAAATATACTAAAATATCAGTTGATTGAATATTGATAATTGCAACAAATTAGAAATTTAAATATTGTTTAAACCCAAAGTTGTCAATGCTAGATAAAGTTATTCATTACTTTTTATTTCCATAAATAGCAAAGTTTTAATATGATGAAATTAGCTTCTGCTTTCTAAATTTCAGTCAGTAATCTTAATGCTTTAATTAAAATTCTTAATTTAGTGCTTCTGAATTGACAAGGCAGGAGAGAATTTAAGGTTGCTTATATGCTGTTGGTGCATTTGTCTTTACACCTTTAAGCTATATTATATGTCATGAGAACCATGAAAATTGTTCACATATGAGAATAATTCCAATACTAGAGGCTCCAAGACGTTTCAGGAATTGGTCCAGAGAGAAGTCAGAATTCTTGAAGACCTCTAAAACATGATGTATGACATTTTAACTGTTCTTTCTTTAGGAACTATTTCTTAACAGTATCACATATCATGGTTTTGTAAGCTCTTCATTGTCTTGTATGGTATACAGTGATGTAAGAAAAGCTATCATTAGGACATTAAGCTTACTTTGCTTTCACTGAATTTCAAATTAAGATAAGTGAACTTTCAGTCTGAGAATCCAAAAACAAACAAACAAACAAACAAAAATGGGTAATTTCCCACTCTGCCATTCCAACGGTTGACTTACCATGAACACTTTCAATACATAGCTCAACTCATTCTCCACTGTAACCAGAACAATAAATGGAAAGAAGGCAATGATGTAGATGAGGCTTCCGATCAGAGCTGCAATGTTGGTGTTGTTGAAGAAGACACTGATAAGATAGCTCATGGCAATAACCGAGAAGCTGTAGTCCGAAAAATACAGGAACAAAATGAACCCATTTGTTTTAGGAAGAATATTGCCAAACTTGAGTATAATGATGAGGATCACGATGGTAACCAGTAAAAATCCAACACTCTCTATAAGCCAGGCAAAGAAATGGCTGCAGGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGTGAGGCGCTTGTTATGCTGATATTCTTCCAAATAAAAATTATTCCCTGTATTATGTCAAAATGTCATGATAGTCTCTCTGTATATGGAACTAGGCATTTTAATAATTTACATAAATCAAGAATTTATCCATGCTTGCTATGTGAAATATGCCTATATACACCAGAACAACTTAGATTATTTGTTCACAGAATGGCACAATATAATAAACAATTTGGATGGTGAGGGTTTAATTACAGTTCCACTTTATAATTGTTACCCAGCTGACATCTCTAGATTAAACTAATTTAGAATAGATTATCAAATTTATGGTATCCCCTGTAGAATTTTACATGATTTTGACATTTATGCAGGCATGAGCATTTCAAACTGGTAAAAAACCATGGCTTAACTATTAGTTCAGTGTAGAGACTGAGCTCATAAAAATCCATAATTTTTTTTTTTACTAAACACTAATGAACAACACAATCAGTATTGATGTTCCTGAGAGAAACAGTATACCTGATTCCTAAGAATTTAAAACACATAACTTAAGGGAGACCTCCTGCCTTTAGCTATAGCCTTCCCATCCTTAACACTTACTGGCAGTC 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GGATGATAATTTTGCCATTTAGAAAAAAATAATTGAAACTACTAGTCATGTAATTTCATATCATTTCTCTCATAACAAAGCACGCTGTTGACCGACTTGTCTTACTGGCAGATGGGTTGGTGTTCTGCATCATGATGTTAGTAAACATGAGGCCATTGCTCTTCTCAGGCTTCACCTCTGCACACCCAAATCGCTCCTTCCAATAGGAAGGAAGAATTGGAAAATACCAGGGAGCTGCCATACCGTATGTCCCTGGAATAAAAATATATCAGGAACAGTGAGTTTTAGTTGACTGTTAACATTTATCATCAGAAACAAAACAGTAGATCCTATGTATGGTTTAGGAAGTAGTTTTATTTTTTGACACTATATAAAACTAAAAGGTGGTCTCAGTTTCCATAGTAAAGCAAAAAACGATGCTTTTTTTCCTTGTTAGTTTTTAAGCAGCTTTATTTACATTTACTAAAACTTATCTAACTGTACACTTATTGTAATGGAAAAAGCCACTATTTATCTATGAAATACATGTCTACAAGTTGTGATTTTACAGTGATAAGACTAGTTCAGATCCAGATTCTGGGTTTCCAGCCCAGAAAAAGCCACAATTTAATCCCCACAAGGGTCCAAACAGACATGTGTAGACATATTCATCTATGACCAAAAGGATAATTTTGCCACTTAGAAAAACATAATTAAAACTGTTAGTCATATAATTTCATATCATTTCTCTCATAACAATGCATGCTGTTGGCCTACTTGTCTTATTATTGTAAGTGTACAGGTAGATAAGTCTTAGCTAATGTATAAAGTTGTGCAATTCAGTATTAGAACATTTCTATAACTCAAAAAATTTGTCTCATGCCCATTTGCAGATAATCCCTGCTCCCACCTCACATCCCAGGCAATCATTGATCTGCCTTCTGTCTCTATCTGTCTTTCACAGATCTTACATAAATGAAATCATATTCTTTTATTCATGTATAACACCAAAAAATGCATACATATAAGTAGGGCTAAATGGAAAACTAAGCATGTTAGAAAGGATGACTGCTTGAGACCTAGAAGGGGGAACCCAACTTGTCTTCTTCCGTTAGAATCTGGTAAATTCTCCTTAGAATTAGGAGATTTGGTTTTTCCCTTATTATCTCTCACACTCCTATTTAGAGAGACTGGATTGATTTGACACTATTCTAAGCTTCTTAATTCACTCCATCTTTTAAAGGAATATCCGAGAGGAAATTTAGCAGTATATTATCTCATCCTGAAAATTTTTTGTTAGCTTTGGGATTTGAATACTTCTTTTTGGAGATTATATATGGCAAATAAGATTTTTTTTTAATTAAAAAAAAGTTAAAGGCCGGGCATGGTGGCTCTTGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGATCAGAAGCTCGAGAGCAGCCTGGCTAACATGGTGAAACCCCGGCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAATACATACATATATATATATATATATATATAATATTTTTATTTTTTAATTTAAAAATTTTTTGCAAATAAAATATTAGAACATATTATTAGTTGATTTATATTGAAGTCAACCATAAAAAGCATGTATCTGTAGGAAGCACATTCATACCTGGGAAGACATTCCTGACATACCAAGCAATAAGGAAATAAATGAAAGAGTCAGCTAGGATTAGACAGCACAGCCAGCCAAATGAGGTGGTGTCATCCTGAACCGGGGAGGTGTACATATTTTCCCACTGAAGACCTAAAAAGTGAACACAAGTGTTTATTCTTCTGTGACACACAGCACAGTTGTGAAAGATAAAATCCAGTTTTAAAGAAAGGGGACCTACCAATGCCCTGTTCTTCGTATCGTGCAATGTATTGGCTTACATAGCTGAATGCTGTTGGGGACAGCAGGCTCTGTGAAGAAAGGAAACGGCAATGATAGTTCTTGTAGATTTCATGTATTTCACCCAGAGGTATCCTAAAATACTTAAAACTTTGGACATTTGTATAGATAAAATTGATGCTCATTCTCTAAGCATATTTAAAAATACAGCAGTCCCTTACCAACCATGCTACAACTGTGAAGCAAGAGCAGAGAGAATAGCAGAAAACAAAAACAGGAAAATTACAACTTGAAAACCATTCCTTAAAAAATCAAAATATACATTTGAACTCATTAAATGTTGCTCAGCAAGTAATAAAATAGTTAATTATGGAGTAATTCAGTATTAAGACTAAAATTTACCAAAAATGTTAAGGGCCAGAAGGCATTTTCACTCCATACATTTATTTCAGGTAATAGAAGTACTATGAATAAAAATATACTAAAATATCAGTTGATTGAATATTGATAATTGCAACAAATTAGAAATTTAAATATTGTTTAAACCCAAAGTTGTCAATGCTAGATAAAGTTATTCATTACTTTTTATTTCCATAAATAGCAAAGTTTTAATATGATGAAATTAGCTTCTGCTTTCTAAATTTCAGTCAGTAATCTTAATGCTTTAATTAAAATTCTTAATTTAGTGCTTCTGAATTGACAAGGCAGGAGAGAATTTAAGGTTGCTTATATGCTGTTGGTGCATTTGTCTTTACACCTTTAAGCTATATTATATGTCATGAGAACCATGAAAATTGTTCACATATGAGAATAATTCCAATACTAGAGGCTCCAAGACGTTTCAGGAATTGGTCCAGAGAGAAGTCAGAATTCTTGAAGACCTCTAAAACATGATGTATGACATTTTAACTGTTCTTTCTTTAGGAACTATTTCTTAACAGTATCACATATCATGGTTTTGTAAGCTCTTCATTGTCTTGTATGGTATACAGTGATGTAAGAAAAGCTATCATTAGGACATTAAGCTTACTTTGCTTTCACTGAATTTCAAATTAAGATAAGTGAACTTTCAGTCTGAGAATCCAAAAACAAACAAACAAACAAACAAAAATGGGTAATTTCCCACTCTGCCATTCCAACGGTTGACTTACCATGAACACTTTCAATACATAGCTCAACTCATTCTCCACTGTAACCAGAACAATAAATGGAAAGAAGGCAATGATGTAGATGAGGCTTCCGATCAGAGCTGCAATGTTGGTGTTGTTGAAGAAGACACTGATAAGATAGCTCATGGCAATAACCGAGAAGCTGTAGTCCGAAAAATACAGGAACAAAATGAACCCATTTGTTTTAGGAAGAATATTGCCAAACTTGAGTATAATGATGAGGATCACGATGGTAACCAGTAAAAATCCAACACTCTCTATAAGCCAGGCAAAGAAATGGCTGCAGGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGTGAGGCGCTTGTTATGCTGATATTCTTCCAAATAAAAATTATTCCCTGTATTATGTCAAAATGTCATGATAGTCTCTCTGTATATGGAACTAGGCATTTTAATAATTTACATAAATCAAGAATTTATCCATGCTTGCTATGTGAAATATGCCTATATACACCAGAACAACTTAGATTATTTGTTCACAGAATGGCACAATATAATAAACAATTTGGATGGTGAGGGTTTAATTACAGTTCCACTTTATAATTGTTACCCAGCTGACATCTCTAGATTAAACTAATTTAGAATAGATTATCAAATTTATGGTATCCCCTGTAGAATTTTACATGATTTTGACATTTATGCAGGCATGAGCATTTCAAACTGGTAAAAAACCATGGCTTAACTATTAGTTCAGTGTAGAGACTGAGCTCATAAAAATCCATAATTTTTTTTTTTACTAAACACTAATGAACAACACAATCAGTATTGATGTTCCTGAGAGAAACAGTATACCTGATTCCTAAGAATTTAAAACACATAACTTAAGGGAGACCTCCTGCCTTTAGCTATAGCCTTCCCATCCTTAACACTTACTGGCAGTC 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Task1_train_5416 | A variant on Chromosome 2 in gene ABCA12 (ATP binding cassette subfamily A member 12) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal recessive congenital ichthyosis 4B | AATTCACTCCATCTTTTAAAGGAATATCCGAGAGGAAATTTAGCAGTATATTATCTCATCCTGAAAATTTTTTGTTAGCTTTGGGATTTGAATACTTCTTTTTGGAGATTATATATGGCAAATAAGATTTTTTTTTAATTAAAAAAAAGTTAAAGGCCGGGCATGGTGGCTCTTGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGATCAGAAGCTCGAGAGCAGCCTGGCTAACATGGTGAAACCCCGGCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAATACATACATATATATATATATATATATATAATATTTTTATTTTTTAATTTAAAAATTTTTTGCAAATAAAATATTAGAACATATTATTAGTTGATTTATATTGAAGTCAACCATAAAAAGCATGTATCTGTAGGAAGCACATTCATACCTGGGAAGACATTCCTGACATACCAAGCAATAAGGAAATAAATGAAAGAGTCAGCTAGGATTAGACAGCACAGCCAGCCAAATGAGGTGGTGTCATCCTGAACCGGGGAGGTGTACATATTTTCCCACTGAAGACCTAAAAAGTGAACACAAGTGTTTATTCTTCTGTGACACACAGCACAGTTGTGAAAGATAAAATCCAGTTTTAAAGAAAGGGGACCTACCAATGCCCTGTTCTTCGTATCGTGCAATGTATTGGCTTGCATAGCTGAATGCTGTTGGGGACAGCAGGCTCTGTGAAGAAAGGAAACGGCAATGATAGTTCTTGTAGATTTCATGTATTTCACCCAGAGGTATCCTAAAATACTTAAAACTTTGGACATTTGTATAGATAAAATTGATGCTCATTCTCTAAGCATATTTAAAAATACAGCAGTCCCTTACCAACCATGCTACAACTGTGAAGCAAGAGCAGAGAGAATAGCAGAAAACAAAAACAGGAAAATTACAACTTGAAAACCATTCCTTAAAAAATCAAAATATACATTTGAACTCATTAAATGTTGCTCAGCAAGTAATAAAATAGTTAATTATGGAGTAATTCAGTATTAAGACTAAAATTTACCAAAAATGTTAAGGGCCAGAAGGCATTTTCACTCCATACATTTATTTCAGGTAATAGAAGTACTATGAATAAAAATATACTAAAATATCAGTTGATTGAATATTGATAATTGCAACAAATTAGAAATTTAAATATTGTTTAAACCCAAAGTTGTCAATGCTAGATAAAGTTATTCATTACTTTTTATTTCCATAAATAGCAAAGTTTTAATATGATGAAATTAGCTTCTGCTTTCTAAATTTCAGTCAGTAATCTTAATGCTTTAATTAAAATTCTTAATTTAGTGCTTCTGAATTGACAAGGCAGGAGAGAATTTAAGGTTGCTTATATGCTGTTGGTGCATTTGTCTTTACACCTTTAAGCTATATTATATGTCATGAGAACCATGAAAATTGTTCACATATGAGAATAATTCCAATACTAGAGGCTCCAAGACGTTTCAGGAATTGGTCCAGAGAGAAGTCAGAATTCTTGAAGACCTCTAAAACATGATGTATGACATTTTAACTGTTCTTTCTTTAGGAACTATTTCTTAACAGTATCACATATCATGGTTTTGTAAGCTCTTCATTGTCTTGTATGGTATACAGTGATGTAAGAAAAGCTATCATTAGGACATTAAGCTTACTTTGCTTTCACTGAATTTCAAATTAAGATAAGTGAACTTTCAGTCTGAGAATCCAAAAACAAACAAACAAACAAACAAAAATGGGTAATTTCCCACTCTGCCATTCCAACGGTTGACTTACCATGAACACTTTCAATACATAGCTCAACTCATTCTCCACTGTAACCAGAACAATAAATGGAAAGAAGGCAATGATGTAGATGAGGCTTCCGATCAGAGCTGCAATGTTGGTGTTGTTGAAGAAGACACTGATAAGATAGCTCATGGCAATAACCGAGAAGCTGTAGTCCGAAAAATACAGGAACAAAATGAACCCATTTGTTTTAGGAAGAATATTGCCAAACTTGAGTATAATGATGAGGATCACGATGGTAACCAGTAAAAATCCAACACTCTCTATAAGCCAGGCAAAGAAATGGCTGCAGGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGTGAGGCGCTTGTTATGCTGATATTCTTCCAAATAAAAATTATTCCCTGTATTATGTCAAAATGTCATGATAGTCTCTCTGTATATGGAACTAGGCATTTTAATAATTTACATAAATCAAGAATTTATCCATGCTTGCTATGTGAAATATGCCTATATACACCAGAACAACTTAGATTATTTGTTCACAGAATGGCACAATATAATAAACAATTTGGATGGTGAGGGTTTAATTACAGTTCCACTTTATAATTGTTACCCAGCTGACATCTCTAGATTAAACTAATTTAGAATAGATTATCAAATTTATGGTATCCCCTGTAGAATTTTACATGATTTTGACATTTATGCAGGCATGAGCATTTCAAACTGGTAAAAAACCATGGCTTAACTATTAGTTCAGTGTAGAGACTGAGCTCATAAAAATCCATAATTTTTTTTTTTACTAAACACTAATGAACAACACAATCAGTATTGATGTTCCTGAGAGAAACAGTATACCTGATTCCTAAGAATTTAAAACACATAACTTAAGGGAGACCTCCTGCCTTTAGCTATAGCCTTCCCATCCTTAACACTTACTGGCAGTCTAGGTCAATATTTGTCATCCTTGTTTTCCAAAAAGCCATTTATACATTCATAATAAACTCATGTATCTGAGATCCTCTATACCTCTCTCTCAATTGATATTCTTTGATACCTCAGTGATATCCCCAGAGGCCAAGGCGTTCCACAAGGTAGAAAAATAAACAAGCACAATCAATTTGTGCATTAACTCAAAAGGATTCTGAAAGATTTAAAGTCCCCTGGGAACATCACACACCAGGGCCTGTCGGGGGATGGAGGGAAGGGGAGGTATAGCATTAGGAGAAATACCTAATGTAGATGACAGGTTGATGAGTGCAGCGAACCACCATGGCACGTGTATACCTATGTGACAAACCTACACGCTGTGCACATGTATCCCATAACTTAAAGTATAATAAAATAATACAAATAAAAATAAAAAGATTTAAAGTCCCCTGGACCTTGGTTTGGTTGAATTTTGTGACATGTACTTTGGGGAAACCTGGATATCCTGGTTTCTAATTTTAACAATTCATGATTAATGAGGGCCGATCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGACAGAGACCATCCTGGCTAACACAATGAAACCCCGTTTCTACTTAAAATACAGAAAAATTAGCCAGGAGTGGTGGCGGGCCCCCGTAGCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAGAAAAAAAAAAAATGAAAAAAAAAAAAAAACAATTCATGATTAATGTTAAGCCTATCAACCTAGTATCCCCCCCCTTTTTTTTTTTTTTTTTTTTAGGAAAAAAAAAAGAACAGAGGAAATCTCCACTAACTGGCCGGGCACAGTGACTCACACCTGTAATCCCAGCTGTTTGGGAGTCTGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCCACACCAGCCAGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGAATAGCCTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTGCAGGTCCAG 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AATTCACTCCATCTTTTAAAGGAATATCCGAGAGGAAATTTAGCAGTATATTATCTCATCCTGAAAATTTTTTGTTAGCTTTGGGATTTGAATACTTCTTTTTGGAGATTATATATGGCAAATAAGATTTTTTTTTAATTAAAAAAAAGTTAAAGGCCGGGCATGGTGGCTCTTGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGATCAGAAGCTCGAGAGCAGCCTGGCTAACATGGTGAAACCCCGGCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAATACATACATATATATATATATATATATATAATATTTTTATTTTTTAATTTAAAAATTTTTTGCAAATAAAATATTAGAACATATTATTAGTTGATTTATATTGAAGTCAACCATAAAAAGCATGTATCTGTAGGAAGCACATTCATACCTGGGAAGACATTCCTGACATACCAAGCAATAAGGAAATAAATGAAAGAGTCAGCTAGGATTAGACAGCACAGCCAGCCAAATGAGGTGGTGTCATCCTGAACCGGGGAGGTGTACATATTTTCCCACTGAAGACCTAAAAAGTGAACACAAGTGTTTATTCTTCTGTGACACACAGCACAGTTGTGAAAGATAAAATCCAGTTTTAAAGAAAGGGGACCTACCAATGCCCTGTTCTTCGTATCGTGCAATGTATTGGCTTGCATAGCTGAATGCTGTTGGGGACAGCAGGCTCTGTGAAGAAAGGAAACGGCAATGATAGTTCTTGTAGATTTCATGTATTTCACCCAGAGGTATCCTAAAATACTTAAAACTTTGGACATTTGTATAGATAAAATTGATGCTCATTCTCTAAGCATATTTAAAAATACAGCAGTCCCTTACCAACCATGCTACAACTGTGAAGCAAGAGCAGAGAGAATAGCAGAAAACAAAAACAGGAAAATTACAACTTGAAAACCATTCCTTAAAAAATCAAAATATACATTTGAACTCATTAAATGTTGCTCAGCAAGTAATAAAATAGTTAATTATGGAGTAATTCAGTATTAAGACTAAAATTTACCAAAAATGTTAAGGGCCAGAAGGCATTTTCACTCCATACATTTATTTCAGGTAATAGAAGTACTATGAATAAAAATATACTAAAATATCAGTTGATTGAATATTGATAATTGCAACAAATTAGAAATTTAAATATTGTTTAAACCCAAAGTTGTCAATGCTAGATAAAGTTATTCATTACTTTTTATTTCCATAAATAGCAAAGTTTTAATATGATGAAATTAGCTTCTGCTTTCTAAATTTCAGTCAGTAATCTTAATGCTTTAATTAAAATTCTTAATTTAGTGCTTCTGAATTGACAAGGCAGGAGAGAATTTAAGGTTGCTTATATGCTGTTGGTGCATTTGTCTTTACACCTTTAAGCTATATTATATGTCATGAGAACCATGAAAATTGTTCACATATGAGAATAATTCCAATACTAGAGGCTCCAAGACGTTTCAGGAATTGGTCCAGAGAGAAGTCAGAATTCTTGAAGACCTCTAAAACATGATGTATGACATTTTAACTGTTCTTTCTTTAGGAACTATTTCTTAACAGTATCACATATCATGGTTTTGTAAGCTCTTCATTGTCTTGTATGGTATACAGTGATGTAAGAAAAGCTATCATTAGGACATTAAGCTTACTTTGCTTTCACTGAATTTCAAATTAAGATAAGTGAACTTTCAGTCTGAGAATCCAAAAACAAACAAACAAACAAACAAAAATGGGTAATTTCCCACTCTGCCATTCCAACGGTTGACTTACCATGAACACTTTCAATACATAGCTCAACTCATTCTCCACTGTAACCAGAACAATAAATGGAAAGAAGGCAATGATGTAGATGAGGCTTCTGATCAGAGCTGCAATGTTGGTGTTGTTGAAGAAGACACTGATAAGATAGCTCATGGCAATAACCGAGAAGCTGTAGTCCGAAAAATACAGGAACAAAATGAACCCATTTGTTTTAGGAAGAATATTGCCAAACTTGAGTATAATGATGAGGATCACGATGGTAACCAGTAAAAATCCAACACTCTCTATAAGCCAGGCAAAGAAATGGCTGCAGGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGTGAGGCGCTTGTTATGCTGATATTCTTCCAAATAAAAATTATTCCCTGTATTATGTCAAAATGTCATGATAGTCTCTCTGTATATGGAACTAGGCATTTTAATAATTTACATAAATCAAGAATTTATCCATGCTTGCTATGTGAAATATGCCTATATACACCAGAACAACTTAGATTATTTGTTCACAGAATGGCACAATATAATAAACAATTTGGATGGTGAGGGTTTAATTACAGTTCCACTTTATAATTGTTACCCAGCTGACATCTCTAGATTAAACTAATTTAGAATAGATTATCAAATTTATGGTATCCCCTGTAGAATTTTACATGATTTTGACATTTATGCAGGCATGAGCATTTCAAACTGGTAAAAAACCATGGCTTAACTATTAGTTCAGTGTAGAGACTGAGCTCATAAAAATCCATAATTTTTTTTTTTACTAAACACTAATGAACAACACAATCAGTATTGATGTTCCTGAGAGAAACAGTATACCTGATTCCTAAGAATTTAAAACACATAACTTAAGGGAGACCTCCTGCCTTTAGCTATAGCCTTCCCATCCTTAACACTTACTGGCAGTCTAGGTCAATATTTGTCATCCTTGTTTTCCAAAAAGCCATTTATACATTCATAATAAACTCATGTATCTGAGATCCTCTATACCTCTCTCTCAATTGATATTCTTTGATACCTCAGTGATATCCCCAGAGGCCAAGGCGTTCCACAAGGTAGAAAAATAAACAAGCACAATCAATTTGTGCATTAACTCAAAAGGATTCTGAAAGATTTAAAGTCCCCTGGGAACATCACACACCAGGGCCTGTCGGGGGATGGAGGGAAGGGGAGGTATAGCATTAGGAGAAATACCTAATGTAGATGACAGGTTGATGAGTGCAGCGAACCACCATGGCACGTGTATACCTATGTGACAAACCTACACGCTGTGCACATGTATCCCATAACTTAAAGTATAATAAAATAATACAAATAAAAATAAAAAGATTTAAAGTCCCCTGGACCTTGGTTTGGTTGAATTTTGTGACATGTACTTTGGGGAAACCTGGATATCCTGGTTTCTAATTTTAACAATTCATGATTAATGAGGGCCGATCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGACAGAGACCATCCTGGCTAACACAATGAAACCCCGTTTCTACTTAAAATACAGAAAAATTAGCCAGGAGTGGTGGCGGGCCCCCGTAGCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAGAAAAAAAAAAAATGAAAAAAAAAAAAAAACAATTCATGATTAATGTTAAGCCTATCAACCTAGTATCCCCCCCCTTTTTTTTTTTTTTTTTTTTAGGAAAAAAAAAAGAACAGAGGAAATCTCCACTAACTGGCCGGGCACAGTGACTCACACCTGTAATCCCAGCTGTTTGGGAGTCTGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCCACACCAGCCAGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGAATAGCCTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTGCAGGTCCAG 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Task1_train_5417 | This genomic variant is located on Chromosome 2, within the ABCA12 (ATP binding cassette subfamily A member 12) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Lamellar ichthyosis | GTTTATGTGTTGGGCTCCACTCAAGCTTTCACTTGGAGAAAGGTCCCAAGGCCATTTCCTTTTTTAATCTACAAGACTAAAAAATTACCTCCAAGTACCCCAAGAAAAATGTAAATATTAATGAAGCATGAGATCACTATCATTCAGTATCACTTTAGCATGCAGAAGTGTGTCATTATCAGAGAGATGAGGTGTTTTTTTGGTGAGGGAGCAGTGGGAGTTGAGGCCATATTCCATTTTTTTTGTTGTTGTTTCCTGGGAAACTGTATGGCATGGGGTAGGCATTTACAGACTACTTCTTGAATGAATTTTGTTTTGGTTCAGGTACAGCCTTGAAGTGATTTCTGGATCTAGAACTAGGCAAAGGCCTTCATTCATTAACAACAAATCCCCTGTAATGTTTCTTCCAAGTGATAGTGTATTTTAGATTTGGTCTAGTATAAAGCAGAAATGTTGGTCTTATAAACAGGAGGACTAGTGTAGTACCAGTTATATTATCTTGGGCAAGTTAATTAGCCTTTCTGGATTTCAGTTTTTTCATCTGGAAAGTATGGACAATAATTCCTGCTCCTACTTACATTATGAGGTTGTTGGGTGAAACAAATGAAATAATTAATGGGAAATCACTTTATATGCAACAGTGTATATGTGTGTAAGGCATAATGAACATATTCCCATAAAGAATACAGACTGCACACCCAGGTACCCACCATCCTAGGTACCAAAATTTATAAGGGGAACAAATGAGCAGGGAACTAGATAAGAATTATAACTTCATTGACCCCATAGATCTTTATAATTTGTGCAAACCATTGCAGTTCACACATAGTTCGGGCAGCACAGTCCCGTCCACAACAGCCTCCACAATAGCCAGCTAACCTTGACAGTCCACTTGATGGACTCCTTACCTGCTTCCTCATGCTACTGTTGCACTGGGTTACATTACCTCATCTCATTTATAACTCTTGAAGTAGCCAAGGGAGACAGAAGCATTGAAAGAAAGAAAAAAGAAGAGAAAAGAAAAATCCAATACCATCTGAATTGTATATAAACTGCAATAACTGGGTTGCGTAGCATGTTCAATTCCTTTAAAGTAATATTCAGCCTCAAGCTTTTATATAGGAAGGTGAGCTTGAAAACCATAATCTGCTTATTTTTTAACCATCTACAGAGTGAAGGAAGCATTCAGTGCTACCCAACTGGCAGATTTCTCGAACATTCAAATTGAATTGTCTAAAAGCATTATTGTTACTTTTTTATTCATCTAGAAAAACCATTTTAGATATAGAGGATTCCTAGCAAATGAACTGATAATACATGAAAGTTTCAGGTAGCACAATATTTATCTGAAATAGTTGATCAAAATGTGTTCAAGGTTTCTTTTATCAATTTGTTTTCTTAAAATTGATCATGCGCTCAGATTTTTTAAAATCCGATTTGGGAGTTGGAAGGGATTTTAAGATCGTCTTGTTCATCCCTTTCATTTGACTAGAGGGAGGTAAGCCCAGTAGACAGTGGGGAACATCAAAATCATGCAGCAATGTACTCAGGTCTGAAGTCCAATTATTCCAATTTTAGGGCCAGAATTTTTGGAGAGCTAAGGGTTTTTATAGATCATTTGGTAAACACTTTACCATCATTTTGGTATTGATGAGCAGTTATGATGAAGCTATGCCCTATAGTGTGAACTCTTTCTCAAAACAAGCATATTACAAAAGTTTGGTGAATGTTGTTCCTTTCATGTAATACATCTGAATGAATGGACTGAAGTGAGTTCTCAGAAAAGTTGTTGATCATTAAAAAGGCTGGAAGTGCACACACTTACTTGTCTTTCATGAAGCAGGGATAAGGAATTGCTTGAACCTGGACTGCTATTTCCTGGGAGTTCCTTCCAGTTTGCAATTCAATGATTGCTCTTTCAATACTATCCTGTAAATAAATAAAAGCCCTGCCATAGATCTGGTTGTGTGATGGAGAATTGTGTGGCCCTGGAGCCCAAATCTTGGTTCTTAGGCTTCTTGTGGTCTGTGCGGTCTTGAGACTCATCCGGATGGTATATTTTATGACAGGAGGAAGAAAGACATTTCCAGAGTCATAGCCTCTGTGCCAGCTTCTGTTAGAAGGAAGCTTAAAAATAACACCTAAAAATAAAATGGCAACAACAGCAGAAAGGTTATTTTATGGTTGACGTTATTCATTGTTTGGAGAGTACACAGAGGGGACAGCCAAACAGTCAATTGAGTTAGTAATGTGACAGTAGGTTCAGGTTCTTAATTTACAGAAAACATGGTTAATTGGAGGTGTCAACCTCAGAAATTCAAAGCTGGAGTTTAAGAATATAATCACCAACTAAGTAGACAGATTAAATGCACCATTCTAAGCCACTTATTAATATAAAAACACTTTTAGATAAATAATGACTGATTATGAGGATGGACTCAACTTCACTCTGTAACTATGTAATCCTTTTCAATCTTAATTTGAAGTACACCAACAAAATTAGACATACTTAGAGATTATAGTTGGTTGCCTACATGAAAGGTTCTCTTTTCTAAGGACATCAGAGGACCTAAGGACCCCCACACTAGTTTTCTGAGTTCTGGATGAAAGACATGAGGAAAGAATTTGGCCAATTTTAGCACAAAGAGATGCTCAAACCCTAATAGAACAGCACTTACTTCCAAAGAGTTCGTTGCTTTTGTAGAGCCTTTTAGCCTCTCTCTCCATTTCATCTATGGTTTTTGCTGCCTGAATACGGTCATATAATACACAAGAGGAAATATTTACTGTCAGGGAAGATAGTGTGTTAAGCTGATCGATGATGTCAATGTTGTTCTCTAATTTCAGTCTTAGAATATCTAAAGAGGCAAAGCAAAAGAGACAAAAAAAAATTATGGTCCTGATTCTGGTCGTAATTAGATGAAATACTGATTTTTTGTAAATACTAAACTAGATTATAAATAACAAAAGCCTGCAGAATTTACTCTAAAAATATCTAGTATTCTACACCAAAGAAAATGGGTCGTTATGCAAATATTCATTGAGGAGCCAAGCTAGTTACAAATACAGTAAACCTAGGTTCTAAGAAAGATACAAGATAACTTAAAAGTATATTTTGTTACAATTTAATAACAAAGAACTAAGATGAATAAATTTTTAAAAATCTATCTACATGTAGTTAGGACAAAAACTATAAACCAGAGATGTGAGTTTAGAATAAACTAAACAGAAATGCCTGCTTTGTACACGGAATGTGAATGCACAAACTGAAACAAAGGAAAGTCTATGTAGAATGCATAGGATAAATAAACTGTATTATTACATAAGCTGTGATATAGAAACACTTAAGATACCTGAAAATATATGCCACATAGTTGTGAGTTTCTAATACTGTTTGACTTAAAATCTTATGTGTATATCTTAAAATTAATACTTTTGATATCTGTATTAATCTGACAAAATGATCAGGATTTTATTTTGGGTAATTACTCTGGAATAAAGGGGACTTAATTTCTCTTCAATTTTATGATTCTTTGTGAGGAAATCAACCGGGACAAAGGGTAAATATGAAATTGCAAGTTAACAAATCATTTGGCCAATTACATTTTTACTGACTTGATCATCATGAATGCTGAGAAGGCTGCGAATATCATAAATCCCTCCTTCACAGAACCCAGACATGTCTCTTACATCGTCCAAAATAGGACTAAATTTCTCACAGAAGACAACTTCTTAAATGCATTTCTCATTAGAATTTAAAGTGAAATGTTTTACTTGATGTAGATGTTGGTGGGGGAGGGGTAAATTGTGGTTGAACAGTGGCCTCCAGCGGCCACTGGAAATCAACACAACACCAAGGAATTATTTAGAAATTCTGGTAGACAGGATCATAAAAACACTTCAAGGGGTCAGAGTCCCCCGAATTCAAACTATATAACCTCTTCAATACTAAGTTACATGTGTAATTATACAAACATAAGAGTCTCAGTGCTACGTTCATTTTAATCTTATTTTAAATTCTTAGCCTCACTTCCTAGTTCAGAAGTTAGAAATGACAAAATTTATCTAAGAACTTTGCAGTTTAGCCCTGATGTGT 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GTTTATGTGTTGGGCTCCACTCAAGCTTTCACTTGGAGAAAGGTCCCAAGGCCATTTCCTTTTTTAATCTACAAGACTAAAAAATTACCTCCAAGTACCCCAAGAAAAATGTAAATATTAATGAAGCATGAGATCACTATCATTCAGTATCACTTTAGCATGCAGAAGTGTGTCATTATCAGAGAGATGAGGTGTTTTTTTGGTGAGGGAGCAGTGGGAGTTGAGGCCATATTCCATTTTTTTTGTTGTTGTTTCCTGGGAAACTGTATGGCATGGGGTAGGCATTTACAGACTACTTCTTGAATGAATTTTGTTTTGGTTCAGGTACAGCCTTGAAGTGATTTCTGGATCTAGAACTAGGCAAAGGCCTTCATTCATTAACAACAAATCCCCTGTAATGTTTCTTCCAAGTGATAGTGTATTTTAGATTTGGTCTAGTATAAAGCAGAAATGTTGGTCTTATAAACAGGAGGACTAGTGTAGTACCAGTTATATTATCTTGGGCAAGTTAATTAGCCTTTCTGGATTTCAGTTTTTTCATCTGGAAAGTATGGACAATAATTCCTGCTCCTACTTACATTATGAGGTTGTTGGGTGAAACAAATGAAATAATTAATGGGAAATCACTTTATATGCAACAGTGTATATGTGTGTAAGGCATAATGAACATATTCCCATAAAGAATACAGACTGCACACCCAGGTACCCACCATCCTAGGTACCAAAATTTATAAGGGGAACAAATGAGCAGGGAACTAGATAAGAATTATAACTTCATTGACCCCATAGATCTTTATAATTTGTGCAAACCATTGCAGTTCACACATAGTTCGGGCAGCACAGTCCCGTCCACAACAGCCTCCACAATAGCCAGCTAACCTTGACAGTCCACTTGATGGACTCCTTACCTGCTTCCTCATGCTACTGTTGCACTGGGTTACATTACCTCATCTCATTTATAACTCTTGAAGTAGCCAAGGGAGACAGAAGCATTGAAAGAAAGAAAAAAGAAGAGAAAAGAAAAATCCAATACCATCTGAATTGTATATAAACTGCAATAACTGGGTTGCGTAGCATGTTCAATTCCTTTAAAGTAATATTCAGCCTCAAGCTTTTATATAGGAAGGTGAGCTTGAAAACCATAATCTGCTTATTTTTTAACCATCTACAGAGTGAAGGAAGCATTCAGTGCTACCCAACTGGCAGATTTCTCGAACATTCAAATTGAATTGTCTAAAAGCATTATTGTTACTTTTTTATTCATCTAGAAAAACCATTTTAGATATAGAGGATTCCTAGCAAATGAACTGATAATACATGAAAGTTTCAGGTAGCACAATATTTATCTGAAATAGTTGATCAAAATGTGTTCAAGGTTTCTTTTATCAATTTGTTTTCTTAAAATTGATCATGCGCTCAGATTTTTTAAAATCCGATTTGGGAGTTGGAAGGGATTTTAAGATCGTCTTGTTCATCCCTTTCATTTGACTAGAGGGAGGTAAGCCCAGTAGACAGTGGGGAACATCAAAATCATGCAGCAATGTACTCAGGTCTGAAGTCCAATTATTCCAATTTTAGGGCCAGAATTTTTGGAGAGCTAAGGGTTTTTATAGATCATTTGGTAAACACTTTACCATCATTTTGGTATTGATGAGCAGTTATGATGAAGCTATGCCCTATAGTGTGAACTCTTTCTCAAAACAAGCATATTACAAAAGTTTGGTGAATGTTGTTCCTTTCATGTAATACATCTGAATGAATGGACTGAAGTGAGTTCTCAGAAAAGTTGTTGATCATTAAAAAGGCTGGAAGTGCACACACTTACTTGTCTTTCATGAAGCAGGGATAAGGAATTGCTTGAACCTGGACTGCTATTTCCTGGGAGTTCCTTCCAGTTTGCAATTCAATGATTGCTCTTTCAATACTATCCTGTAAATAAATAAAAGCCCTGCCATAGATCTGGTTGTGTGATGGAGAATTGTGTGGCCCTGGAGCCCAAATCTTGGTTCTTAGGCTTCTTGTGGTCTGTGCGGTCTTGAGACTCATCCAGATGGTATATTTTATGACAGGAGGAAGAAAGACATTTCCAGAGTCATAGCCTCTGTGCCAGCTTCTGTTAGAAGGAAGCTTAAAAATAACACCTAAAAATAAAATGGCAACAACAGCAGAAAGGTTATTTTATGGTTGACGTTATTCATTGTTTGGAGAGTACACAGAGGGGACAGCCAAACAGTCAATTGAGTTAGTAATGTGACAGTAGGTTCAGGTTCTTAATTTACAGAAAACATGGTTAATTGGAGGTGTCAACCTCAGAAATTCAAAGCTGGAGTTTAAGAATATAATCACCAACTAAGTAGACAGATTAAATGCACCATTCTAAGCCACTTATTAATATAAAAACACTTTTAGATAAATAATGACTGATTATGAGGATGGACTCAACTTCACTCTGTAACTATGTAATCCTTTTCAATCTTAATTTGAAGTACACCAACAAAATTAGACATACTTAGAGATTATAGTTGGTTGCCTACATGAAAGGTTCTCTTTTCTAAGGACATCAGAGGACCTAAGGACCCCCACACTAGTTTTCTGAGTTCTGGATGAAAGACATGAGGAAAGAATTTGGCCAATTTTAGCACAAAGAGATGCTCAAACCCTAATAGAACAGCACTTACTTCCAAAGAGTTCGTTGCTTTTGTAGAGCCTTTTAGCCTCTCTCTCCATTTCATCTATGGTTTTTGCTGCCTGAATACGGTCATATAATACACAAGAGGAAATATTTACTGTCAGGGAAGATAGTGTGTTAAGCTGATCGATGATGTCAATGTTGTTCTCTAATTTCAGTCTTAGAATATCTAAAGAGGCAAAGCAAAAGAGACAAAAAAAAATTATGGTCCTGATTCTGGTCGTAATTAGATGAAATACTGATTTTTTGTAAATACTAAACTAGATTATAAATAACAAAAGCCTGCAGAATTTACTCTAAAAATATCTAGTATTCTACACCAAAGAAAATGGGTCGTTATGCAAATATTCATTGAGGAGCCAAGCTAGTTACAAATACAGTAAACCTAGGTTCTAAGAAAGATACAAGATAACTTAAAAGTATATTTTGTTACAATTTAATAACAAAGAACTAAGATGAATAAATTTTTAAAAATCTATCTACATGTAGTTAGGACAAAAACTATAAACCAGAGATGTGAGTTTAGAATAAACTAAACAGAAATGCCTGCTTTGTACACGGAATGTGAATGCACAAACTGAAACAAAGGAAAGTCTATGTAGAATGCATAGGATAAATAAACTGTATTATTACATAAGCTGTGATATAGAAACACTTAAGATACCTGAAAATATATGCCACATAGTTGTGAGTTTCTAATACTGTTTGACTTAAAATCTTATGTGTATATCTTAAAATTAATACTTTTGATATCTGTATTAATCTGACAAAATGATCAGGATTTTATTTTGGGTAATTACTCTGGAATAAAGGGGACTTAATTTCTCTTCAATTTTATGATTCTTTGTGAGGAAATCAACCGGGACAAAGGGTAAATATGAAATTGCAAGTTAACAAATCATTTGGCCAATTACATTTTTACTGACTTGATCATCATGAATGCTGAGAAGGCTGCGAATATCATAAATCCCTCCTTCACAGAACCCAGACATGTCTCTTACATCGTCCAAAATAGGACTAAATTTCTCACAGAAGACAACTTCTTAAATGCATTTCTCATTAGAATTTAAAGTGAAATGTTTTACTTGATGTAGATGTTGGTGGGGGAGGGGTAAATTGTGGTTGAACAGTGGCCTCCAGCGGCCACTGGAAATCAACACAACACCAAGGAATTATTTAGAAATTCTGGTAGACAGGATCATAAAAACACTTCAAGGGGTCAGAGTCCCCCGAATTCAAACTATATAACCTCTTCAATACTAAGTTACATGTGTAATTATACAAACATAAGAGTCTCAGTGCTACGTTCATTTTAATCTTATTTTAAATTCTTAGCCTCACTTCCTAGTTCAGAAGTTAGAAATGACAAAATTTATCTAAGAACTTTGCAGTTTAGCCCTGATGTGT 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Task1_train_5418 | The gene FN1, LOC126806496 (fibronectin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216240057-216241256), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Glomerulopathy with fibronectin deposits 2 | ATAGACATTTTTTGGCTAACTTTTCCAGGGTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCAGCCATTCTCCTGCCTCAGCCACCCGAGTAGCTGGGACTACAGGCACCCATCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTTCCAGGGTATTCTTTTAACGTGGTCTTATTTGCCTTTTTGAATTTAAGAAAATCTATCAGCATCATATACCACCACTGGAATATAAATTTGAAAGAGAGTCCTGCAGATTATATACATGAATCTACTTAGGCCTAATAACCAAGCAGTCCTCAGTGGCAGATCAATGAAAAGTGAAACTAAAGGCAAGTGAAGGGTAGGAGAGATTGGCCAGTGTTTGTGCAGCCTCTGTGGGAAGTGTCTAGTTCAATTCCTCTCATGTCTGCTTCTATTTTCCTGTTCCCCCCAATTCTAAAAAGCCAGTGTCTCCTTCTAATGTCTGTATGTTCTGTGGGAATTTTAAAGTCCAGGTGATACTCTATACAGACTGATATGGTTTGGCTCTGTGTCTGCATCCAAATCTCATCTGGAATTGTAATCCCCATGTATTGAGGAGAGGAGGTGATTGGATCATGGGGTGGTTCCCCCAGGCTGTTCTCATGATAGTGAGTTCTCACAAGATCTGATAGTTTTGTAAGTATCTGGAAGTTCCTCCTGTGTGCTTCTCTCTCCTGCTGCCATGTAAGACATGCCTGCTTTTCCTTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAGTGTAATGACAGAATCACAATCAGCTAGTATGCTTTGAAAAATATCTTTCTCCAGGACTGAATTGACAGGTATCTGGCAAACTTGCAGCGAAAGGAAAACATGAGTCTAGTCATGCCATTAGTACAGTCTTGAAATTGCATTTTCCTTCACTCATGCCTTTTGGGATGTATTAGGCTCTACCACTCCTACACAGAGAATGCTTTTTGAGGTTATCAGGAACAGAGTTTCGCATTCTCATGACACAGTATCAAAGACGCTGTGGGAGTTTGCTAAGGACTTCATGTGTCCTAGGTAGTAAGAAGGAAAATGACAGCATGGAAGCAGCAATACCAGTAATAGTAGCCTCTGTGACACCAGGGCGGGGCCGAGGGACCACTTCTCTGGGAGGAGACCCAGGCTTCTCATACTTGATGATGTAGCCGGTAATCCTGGCACGTGGCGGCTGCCATGATACCAGCAAGGAATTGGGTGTGGTGGCCAGGAAACGCAGGTTGGATGGTGCATCAATGGCTGAAAGAAAACAAAATTAAGTCTCTAAGAAGGCAAATAACCAAGAAAATTACTCCCACACTTTTCTCCCGAGCCGTTCTAAACACACTTAAAAGAATCTGAGAATACTGTAAACCGGAAACAAGATTCTCTGGAATCTATAATACAAAAATATACGCCTCACATTTGTTTTTTGAGTTCATGAAACTGATTGCATACAAGTCAATGGCATTTCCTCAGTAGAAGGTATAGTTACCAGTGGAGGCGTCGATGACCACAGGGGAGCTCCGAGCATTGTCATTCAAGGTGTACAGGTAGATCTTGTAGTCAGTGCCTGGTTGTAAACCTGGGATTTGAGAAGAGATGATTTTTAACAGTTCTTGCTTTTTACTAGGAGAATTCTCAAGCTAGCCTGCAATTTTTCTGGGTTCTTCTATCATCCCATATTTATATAGACTACCAAAGTGGTCCACATTTGAACAGTAAAGTAGAGCATGCTATGGATGTTAACTGTTAACAAGAAACATATCTCGAAAGTGAATCACTGATACAGACAAGGACACTGGTAAAGTAAATTCTGGAATGCAAAAATGCTATGTTGGAAGAGGCCCTCTTGCAGAATGGGGGTCAGCCACTTATTGAGGTTTTCTCTTTACCGTAATCAGATGGTCAATAGTTGAGCCTTGGAATCACAATTTTAAAAAGCTAAAAAAGACCTCAGATATTGAATATTCTTCGGTTACAATTTTGGCCTTTATTAAGTGGTATTGTTTACTTTTATATTAACTATGCTTTTTAATGCTAAGATCTATACATCACTGTTTTTTATTTCTTTTAGTTTTAAACCTTATGTTACAATTTTTTAAATAAGAAAGGGCACAATGATGGAAGATCAAACTTGTTGATTGACACTTACGCAATTTCCATGACAAATATTACACAAAATCAGGCATTCAAAGGACAAAACTATTTCTGATCATAGCATGAAAATAACGTTCTAAAACTGGGTTATGATGATAACACTGAAAATAAATTTTATCAGTGTCAGTCGTAGAACAGTTAATAAGCCCGTTTACATTGTGGGTATTTGTTAACAAATGTGGTTAGTGCAATGAGTTCCCTGACCTGTGATGGTGTAGCTTCTGACATCTGGCTTGATGGTTCTCTGGATTGGAGTCTGGCCATTGGCTGGAACGGCATCAACTTGGAAGCCAGTGATCGTCTCAGTCTTGGTTCTCCAGCTAATGGTGATGGTGGTCTCAGTAGCATCTGTCACACGAGCCCTTCTTGGTGGGCTGACATCTGCACAGGAGCATAGCTAGAGATTAGTGCCTGCTTGGCTCATCCATGTAAAGTTTTGGTATTTTAAAACGTTTCCTTGGTATATATCAAATTCATCCATTTCAAGAAATATATAACTAGTAATGTGTAGATTATCTCCTTTGGCATTCAGAGAGAAAGGTCAACTGTAATTAGAAAATAGGAAAATATCTACCTCTCAGACATTTTATTTTGAAGAGCTGAAAAGCTTTATAGATACTACCAGTGGTTCCCAGGGCTGGCTTTATAGTATCTACAAATACTTCAATAAATATTAAAATTATTAATGTATTATAATGTAAAAATATGTGTGGTAGGAGTTACAATAACATGGCCAGCTAACAATTTTGTGTGTGTGTGTGTGTATGTGTGTGTGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTAATATTACGGCAAGTATTTTGTATTTTCTCTCAACAGGTACAATGCCATCCCTCTTTTATAAATGATAAAACTTTGACACTTTACCTGACTTTTGAAAAGGCATACATCAAGGTATTGATATAACAGAAGACTAGAATCTAAGCCTGATTTGGTCCAATGGTTACTGTGCTGTGATATAATTTGGATATTTGTCCCTGTCCAAATCTCTGTTGAGTTGTAATCTCCAATGCTGGAGGTGGGGCCTGGTGAGAGGTGTTTGGATCATGGGGGCAGATCCCTTGTGGCTTGGTGCCCTCTTTATGACAGTGAGTTCTCAAGAGACTGGGTCATTTAAATGTATAAGGTCCTCCCCCCCCAACTCTCTCTCTCTCTCGGTCTTGCTTTTGCCACAGCCATGTGATGTGCCTGCTCCCCCTTGGCCTTCCACCATGAGTAAGCTTCCCAAGGCCTCCCTAGAAGCCAAGAAGATACCAGCACCATGCTTCCTGTAAAGCCTGCTGGCCTGTGGGCCAATTAAGCCTCTTTTCTTTAGAAATTACCCAGTCTCCGGTATTTCTTTATAGTAATGCAAGAATGGCCTAATATGCATTGTTAAGATATAGCAGAAGCCAGTGGGGT | ATAGACATTTTTTGGCTAACTTTTCCAGGGTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCAGCCATTCTCCTGCCTCAGCCACCCGAGTAGCTGGGACTACAGGCACCCATCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTTCCAGGGTATTCTTTTAACGTGGTCTTATTTGCCTTTTTGAATTTAAGAAAATCTATCAGCATCATATACCACCACTGGAATATAAATTTGAAAGAGAGTCCTGCAGATTATATACATGAATCTACTTAGGCCTAATAACCAAGCAGTCCTCAGTGGCAGATCAATGAAAAGTGAAACTAAAGGCAAGTGAAGGGTAGGAGAGATTGGCCAGTGTTTGTGCAGCCTCTGTGGGAAGTGTCTAGTTCAATTCCTCTCATGTCTGCTTCTATTTTCCTGTTCCCCCCAATTCTAAAAAGCCAGTGTCTCCTTCTAATGTCTGTATGTTCTGTGGGAATTTTAAAGTCCAGGTGATACTCTATACAGACTGATATGGTTTGGCTCTGTGTCTGCATCCAAATCTCATCTGGAATTGTAATCCCCATGTATTGAGGAGAGGAGGTGATTGGATCATGGGGTGGTTCCCCCAGGCTGTTCTCATGATAGTGAGTTCTCACAAGATCTGATAGTTTTGTAAGTATCTGGAAGTTCCTCCTGTGTGCTTCTCTCTCCTGCTGCCATGTAAGACATGCCTGCTTTTCCTTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAGTGTAATGACAGAATCACAATCAGCTAGTATGCTTTGAAAAATATCTTTCTCCAGGACTGAATTGACAGGTATCTGGCAAACTTGCAGCGAAAGGAAAACATGAGTCTAGTCATGCCATTAGTACAGTCTTGAAATTGCATTTTCCTTCACTCATGCCTTTTGGGATGTATTAGGCTCTACCACTCCTACACAGAGAATGCTTTTTGAGGTTATCAGGAACAGAGTTTCGCATTCTCATGACACAGTATCAAAGACGCTGTGGGAGTTTGCTAAGGACTTCATGTGTCCTAGGTAGTAAGAAGGAAAATGACAGCATGGAAGCAGCAATACCAGTAATAGTAGCCTCTGTGACACCAGGGCGGGGCCGAGGGACCACTTCTCTGGGAGGAGACCCAGGCTTCTCATACTTGATGATGTAGCCGGTAATCCTGGCACGTGGCGGCTGCCATGATACCAGCAAGGAATTGGGTGTGGTGGCCAGGAAACGCAGGTTGGATGGTGCATCAATGGCTGAAAGAAAACAAAATTAAGTCTCTAAGAAGGCAAATAACCAAGAAAATTACTCCCACACTTTTCTCCCGAGCCGTTCTAAACACACTTAAAAGAATCTGAGAATACTGTAAACCGGAAACAAGATTCTCTGGAATCTATAATACAAAAATATACGCCTCACATTTGTTTTTTGAGTTCATGAAACTGATTGCATACAAGTCAATGGCATTTCCTCAGTAGAAGGTATAGTTACCAGTGGAGGCGTCGATGACCACAGGGGAGCTCCGAGCATTGTCATTCAAGGTGTACCGGTAGATCTTGTAGTCAGTGCCTGGTTGTAAACCTGGGATTTGAGAAGAGATGATTTTTAACAGTTCTTGCTTTTTACTAGGAGAATTCTCAAGCTAGCCTGCAATTTTTCTGGGTTCTTCTATCATCCCATATTTATATAGACTACCAAAGTGGTCCACATTTGAACAGTAAAGTAGAGCATGCTATGGATGTTAACTGTTAACAAGAAACATATCTCGAAAGTGAATCACTGATACAGACAAGGACACTGGTAAAGTAAATTCTGGAATGCAAAAATGCTATGTTGGAAGAGGCCCTCTTGCAGAATGGGGGTCAGCCACTTATTGAGGTTTTCTCTTTACCGTAATCAGATGGTCAATAGTTGAGCCTTGGAATCACAATTTTAAAAAGCTAAAAAAGACCTCAGATATTGAATATTCTTCGGTTACAATTTTGGCCTTTATTAAGTGGTATTGTTTACTTTTATATTAACTATGCTTTTTAATGCTAAGATCTATACATCACTGTTTTTTATTTCTTTTAGTTTTAAACCTTATGTTACAATTTTTTAAATAAGAAAGGGCACAATGATGGAAGATCAAACTTGTTGATTGACACTTACGCAATTTCCATGACAAATATTACACAAAATCAGGCATTCAAAGGACAAAACTATTTCTGATCATAGCATGAAAATAACGTTCTAAAACTGGGTTATGATGATAACACTGAAAATAAATTTTATCAGTGTCAGTCGTAGAACAGTTAATAAGCCCGTTTACATTGTGGGTATTTGTTAACAAATGTGGTTAGTGCAATGAGTTCCCTGACCTGTGATGGTGTAGCTTCTGACATCTGGCTTGATGGTTCTCTGGATTGGAGTCTGGCCATTGGCTGGAACGGCATCAACTTGGAAGCCAGTGATCGTCTCAGTCTTGGTTCTCCAGCTAATGGTGATGGTGGTCTCAGTAGCATCTGTCACACGAGCCCTTCTTGGTGGGCTGACATCTGCACAGGAGCATAGCTAGAGATTAGTGCCTGCTTGGCTCATCCATGTAAAGTTTTGGTATTTTAAAACGTTTCCTTGGTATATATCAAATTCATCCATTTCAAGAAATATATAACTAGTAATGTGTAGATTATCTCCTTTGGCATTCAGAGAGAAAGGTCAACTGTAATTAGAAAATAGGAAAATATCTACCTCTCAGACATTTTATTTTGAAGAGCTGAAAAGCTTTATAGATACTACCAGTGGTTCCCAGGGCTGGCTTTATAGTATCTACAAATACTTCAATAAATATTAAAATTATTAATGTATTATAATGTAAAAATATGTGTGGTAGGAGTTACAATAACATGGCCAGCTAACAATTTTGTGTGTGTGTGTGTGTATGTGTGTGTGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTAATATTACGGCAAGTATTTTGTATTTTCTCTCAACAGGTACAATGCCATCCCTCTTTTATAAATGATAAAACTTTGACACTTTACCTGACTTTTGAAAAGGCATACATCAAGGTATTGATATAACAGAAGACTAGAATCTAAGCCTGATTTGGTCCAATGGTTACTGTGCTGTGATATAATTTGGATATTTGTCCCTGTCCAAATCTCTGTTGAGTTGTAATCTCCAATGCTGGAGGTGGGGCCTGGTGAGAGGTGTTTGGATCATGGGGGCAGATCCCTTGTGGCTTGGTGCCCTCTTTATGACAGTGAGTTCTCAAGAGACTGGGTCATTTAAATGTATAAGGTCCTCCCCCCCCAACTCTCTCTCTCTCTCGGTCTTGCTTTTGCCACAGCCATGTGATGTGCCTGCTCCCCCTTGGCCTTCCACCATGAGTAAGCTTCCCAAGGCCTCCCTAGAAGCCAAGAAGATACCAGCACCATGCTTCCTGTAAAGCCTGCTGGCCTGTGGGCCAATTAAGCCTCTTTTCTTTAGAAATTACCCAGTCTCCGGTATTTCTTTATAGTAATGCAAGAATGGCCTAATATGCATTGTTAAGATATAGCAGAAGCCAGTGGGGT 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Task1_train_5419 | This sequence change occurs on Chromosome 2, altering FN1, LOC126806496 (fibronectin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216240057-216241256). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Glomerulopathy with fibronectin deposits 2 | ATAGACATTTTTTGGCTAACTTTTCCAGGGTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCAGCCATTCTCCTGCCTCAGCCACCCGAGTAGCTGGGACTACAGGCACCCATCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTTCCAGGGTATTCTTTTAACGTGGTCTTATTTGCCTTTTTGAATTTAAGAAAATCTATCAGCATCATATACCACCACTGGAATATAAATTTGAAAGAGAGTCCTGCAGATTATATACATGAATCTACTTAGGCCTAATAACCAAGCAGTCCTCAGTGGCAGATCAATGAAAAGTGAAACTAAAGGCAAGTGAAGGGTAGGAGAGATTGGCCAGTGTTTGTGCAGCCTCTGTGGGAAGTGTCTAGTTCAATTCCTCTCATGTCTGCTTCTATTTTCCTGTTCCCCCCAATTCTAAAAAGCCAGTGTCTCCTTCTAATGTCTGTATGTTCTGTGGGAATTTTAAAGTCCAGGTGATACTCTATACAGACTGATATGGTTTGGCTCTGTGTCTGCATCCAAATCTCATCTGGAATTGTAATCCCCATGTATTGAGGAGAGGAGGTGATTGGATCATGGGGTGGTTCCCCCAGGCTGTTCTCATGATAGTGAGTTCTCACAAGATCTGATAGTTTTGTAAGTATCTGGAAGTTCCTCCTGTGTGCTTCTCTCTCCTGCTGCCATGTAAGACATGCCTGCTTTTCCTTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAGTGTAATGACAGAATCACAATCAGCTAGTATGCTTTGAAAAATATCTTTCTCCAGGACTGAATTGACAGGTATCTGGCAAACTTGCAGCGAAAGGAAAACATGAGTCTAGTCATGCCATTAGTACAGTCTTGAAATTGCATTTTCCTTCACTCATGCCTTTTGGGATGTATTAGGCTCTACCACTCCTACACAGAGAATGCTTTTTGAGGTTATCAGGAACAGAGTTTCGCATTCTCATGACACAGTATCAAAGACGCTGTGGGAGTTTGCTAAGGACTTCATGTGTCCTAGGTAGTAAGAAGGAAAATGACAGCATGGAAGCAGCAATACCAGTAATAGTAGCCTCTGTGACACCAGGGCGGGGCCGAGGGACCACTTCTCTGGGAGGAGACCCAGGCTTCTCATACTTGATGATGTAGCCGGTAATCCTGGCACGTGGCGGCTGCCATGATACCAGCAAGGAATTGGGTGTGGTGGCCAGGAAACGCAGGTTGGATGGTGCATCAATGGCTGAAAGAAAACAAAATTAAGTCTCTAAGAAGGCAAATAACCAAGAAAATTACTCCCACACTTTTCTCCCGAGCCGTTCTAAACACACTTAAAAGAATCTGAGAATACTGTAAACCGGAAACAAGATTCTCTGGAATCTATAATACAAAAATATACGCCTCACATTTGTTTTTTGAGTTCATGAAACTGATTGCATACAAGTCAATGGCATTTCCTCAGTAGAAGGTATAGTTACCAGTGGAGGCGTCGATGACCACAGGGGAGCTCCGAGCATTGTCATTCAAGGTGTACAGGTAGATCTTGTAGTCAGTGCCTGGTTGTAAACCTGGGATTTGAGAAGAGATGATTTTTAACAGTTCTTGCTTTTTACTAGGAGAATTCTCAAGCTAGCCTGCAATTTTTCTGGGTTCTTCTATCATCCCATATTTATATAGACTACCAAAGTGGTCCACATTTGAACAGTAAAGTAGAGCATGCTATGGATGTTAACTGTTAACAAGAAACATATCTCGAAAGTGAATCACTGATACAGACAAGGACACTGGTAAAGTAAATTCTGGAATGCAAAAATGCTATGTTGGAAGAGGCCCTCTTGCAGAATGGGGGTCAGCCACTTATTGAGGTTTTCTCTTTACCGTAATCAGATGGTCAATAGTTGAGCCTTGGAATCACAATTTTAAAAAGCTAAAAAAGACCTCAGATATTGAATATTCTTCGGTTACAATTTTGGCCTTTATTAAGTGGTATTGTTTACTTTTATATTAACTATGCTTTTTAATGCTAAGATCTATACATCACTGTTTTTTATTTCTTTTAGTTTTAAACCTTATGTTACAATTTTTTAAATAAGAAAGGGCACAATGATGGAAGATCAAACTTGTTGATTGACACTTACGCAATTTCCATGACAAATATTACACAAAATCAGGCATTCAAAGGACAAAACTATTTCTGATCATAGCATGAAAATAACGTTCTAAAACTGGGTTATGATGATAACACTGAAAATAAATTTTATCAGTGTCAGTCGTAGAACAGTTAATAAGCCCGTTTACATTGTGGGTATTTGTTAACAAATGTGGTTAGTGCAATGAGTTCCCTGACCTGTGATGGTGTAGCTTCTGACATCTGGCTTGATGGTTCTCTGGATTGGAGTCTGGCCATTGGCTGGAACGGCATCAACTTGGAAGCCAGTGATCGTCTCAGTCTTGGTTCTCCAGCTAATGGTGATGGTGGTCTCAGTAGCATCTGTCACACGAGCCCTTCTTGGTGGGCTGACATCTGCACAGGAGCATAGCTAGAGATTAGTGCCTGCTTGGCTCATCCATGTAAAGTTTTGGTATTTTAAAACGTTTCCTTGGTATATATCAAATTCATCCATTTCAAGAAATATATAACTAGTAATGTGTAGATTATCTCCTTTGGCATTCAGAGAGAAAGGTCAACTGTAATTAGAAAATAGGAAAATATCTACCTCTCAGACATTTTATTTTGAAGAGCTGAAAAGCTTTATAGATACTACCAGTGGTTCCCAGGGCTGGCTTTATAGTATCTACAAATACTTCAATAAATATTAAAATTATTAATGTATTATAATGTAAAAATATGTGTGGTAGGAGTTACAATAACATGGCCAGCTAACAATTTTGTGTGTGTGTGTGTGTATGTGTGTGTGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTAATATTACGGCAAGTATTTTGTATTTTCTCTCAACAGGTACAATGCCATCCCTCTTTTATAAATGATAAAACTTTGACACTTTACCTGACTTTTGAAAAGGCATACATCAAGGTATTGATATAACAGAAGACTAGAATCTAAGCCTGATTTGGTCCAATGGTTACTGTGCTGTGATATAATTTGGATATTTGTCCCTGTCCAAATCTCTGTTGAGTTGTAATCTCCAATGCTGGAGGTGGGGCCTGGTGAGAGGTGTTTGGATCATGGGGGCAGATCCCTTGTGGCTTGGTGCCCTCTTTATGACAGTGAGTTCTCAAGAGACTGGGTCATTTAAATGTATAAGGTCCTCCCCCCCCAACTCTCTCTCTCTCTCGGTCTTGCTTTTGCCACAGCCATGTGATGTGCCTGCTCCCCCTTGGCCTTCCACCATGAGTAAGCTTCCCAAGGCCTCCCTAGAAGCCAAGAAGATACCAGCACCATGCTTCCTGTAAAGCCTGCTGGCCTGTGGGCCAATTAAGCCTCTTTTCTTTAGAAATTACCCAGTCTCCGGTATTTCTTTATAGTAATGCAAGAATGGCCTAATATGCATTGTTAAGATATAGCAGAAGCCAGTGGGGT 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ATAGACATTTTTTGGCTAACTTTTCCAGGGTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCAGCCATTCTCCTGCCTCAGCCACCCGAGTAGCTGGGACTACAGGCACCCATCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTTCCAGGGTATTCTTTTAACGTGGTCTTATTTGCCTTTTTGAATTTAAGAAAATCTATCAGCATCATATACCACCACTGGAATATAAATTTGAAAGAGAGTCCTGCAGATTATATACATGAATCTACTTAGGCCTAATAACCAAGCAGTCCTCAGTGGCAGATCAATGAAAAGTGAAACTAAAGGCAAGTGAAGGGTAGGAGAGATTGGCCAGTGTTTGTGCAGCCTCTGTGGGAAGTGTCTAGTTCAATTCCTCTCATGTCTGCTTCTATTTTCCTGTTCCCCCCAATTCTAAAAAGCCAGTGTCTCCTTCTAATGTCTGTATGTTCTGTGGGAATTTTAAAGTCCAGGTGATACTCTATACAGACTGATATGGTTTGGCTCTGTGTCTGCATCCAAATCTCATCTGGAATTGTAATCCCCATGTATTGAGGAGAGGAGGTGATTGGATCATGGGGTGGTTCCCCCAGGCTGTTCTCATGATAGTGAGTTCTCACAAGATCTGATAGTTTTGTAAGTATCTGGAAGTTCCTCCTGTGTGCTTCTCTCTCCTGCTGCCATGTAAGACATGCCTGCTTTTCCTTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAGTGTAATGACAGAATCACAATCAGCTAGTATGCTTTGAAAAATATCTTTCTCCAGGACTGAATTGACAGGTATCTGGCAAACTTGCAGCGAAAGGAAAACATGAGTCTAGTCATGCCATTAGTACAGTCTTGAAATTGCATTTTCCTTCACTCATGCCTTTTGGGATGTATTAGGCTCTACCACTCCTACACAGAGAATGCTTTTTGAGGTTATCAGGAACAGAGTTTCGCATTCTCATGACACAGTATCAAAGACGCTGTGGGAGTTTGCTAAGGACTTCATGTGTCCTAGGTAGTAAGAAGGAAAATGACAGCATGGAAGCAGCAATACCAGTAATAGTAGCCTCTGTGACACCAGGGCGGGGCCGAGGGACCACTTCTCTGGGAGGAGACCCAGGCTTCTCATACTTGATGATGTAGCCGGTAATCCTGGCACGTGGCGGCTGCCATGATACCAGCAAGGAATTGGGTGTGGTGGCCAGGAAACGCAGGTTGGATGGTGCATCAATGGCTGAAAGAAAACAAAATTAAGTCTCTAAGAAGGCAAATAACCAAGAAAATTACTCCCACACTTTTCTCCCGAGCCGTTCTAAACACACTTAAAAGAATCTGAGAATACTGTAAACCGGAAACAAGATTCTCTGGAATCTATAATACAAAAATATACGCCTCACATTTGTTTTTTGAGTTCATGAAACTGATTGCATACAAGTCAATGGCATTTCCTCAGTAGAAGGTATAGTTACCAGTGGAGGCGTCGATGACCACAGGGGAGCTCCGAGCATTGTCATTCAAGGTGTACGGGTAGATCTTGTAGTCAGTGCCTGGTTGTAAACCTGGGATTTGAGAAGAGATGATTTTTAACAGTTCTTGCTTTTTACTAGGAGAATTCTCAAGCTAGCCTGCAATTTTTCTGGGTTCTTCTATCATCCCATATTTATATAGACTACCAAAGTGGTCCACATTTGAACAGTAAAGTAGAGCATGCTATGGATGTTAACTGTTAACAAGAAACATATCTCGAAAGTGAATCACTGATACAGACAAGGACACTGGTAAAGTAAATTCTGGAATGCAAAAATGCTATGTTGGAAGAGGCCCTCTTGCAGAATGGGGGTCAGCCACTTATTGAGGTTTTCTCTTTACCGTAATCAGATGGTCAATAGTTGAGCCTTGGAATCACAATTTTAAAAAGCTAAAAAAGACCTCAGATATTGAATATTCTTCGGTTACAATTTTGGCCTTTATTAAGTGGTATTGTTTACTTTTATATTAACTATGCTTTTTAATGCTAAGATCTATACATCACTGTTTTTTATTTCTTTTAGTTTTAAACCTTATGTTACAATTTTTTAAATAAGAAAGGGCACAATGATGGAAGATCAAACTTGTTGATTGACACTTACGCAATTTCCATGACAAATATTACACAAAATCAGGCATTCAAAGGACAAAACTATTTCTGATCATAGCATGAAAATAACGTTCTAAAACTGGGTTATGATGATAACACTGAAAATAAATTTTATCAGTGTCAGTCGTAGAACAGTTAATAAGCCCGTTTACATTGTGGGTATTTGTTAACAAATGTGGTTAGTGCAATGAGTTCCCTGACCTGTGATGGTGTAGCTTCTGACATCTGGCTTGATGGTTCTCTGGATTGGAGTCTGGCCATTGGCTGGAACGGCATCAACTTGGAAGCCAGTGATCGTCTCAGTCTTGGTTCTCCAGCTAATGGTGATGGTGGTCTCAGTAGCATCTGTCACACGAGCCCTTCTTGGTGGGCTGACATCTGCACAGGAGCATAGCTAGAGATTAGTGCCTGCTTGGCTCATCCATGTAAAGTTTTGGTATTTTAAAACGTTTCCTTGGTATATATCAAATTCATCCATTTCAAGAAATATATAACTAGTAATGTGTAGATTATCTCCTTTGGCATTCAGAGAGAAAGGTCAACTGTAATTAGAAAATAGGAAAATATCTACCTCTCAGACATTTTATTTTGAAGAGCTGAAAAGCTTTATAGATACTACCAGTGGTTCCCAGGGCTGGCTTTATAGTATCTACAAATACTTCAATAAATATTAAAATTATTAATGTATTATAATGTAAAAATATGTGTGGTAGGAGTTACAATAACATGGCCAGCTAACAATTTTGTGTGTGTGTGTGTGTATGTGTGTGTGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTAATATTACGGCAAGTATTTTGTATTTTCTCTCAACAGGTACAATGCCATCCCTCTTTTATAAATGATAAAACTTTGACACTTTACCTGACTTTTGAAAAGGCATACATCAAGGTATTGATATAACAGAAGACTAGAATCTAAGCCTGATTTGGTCCAATGGTTACTGTGCTGTGATATAATTTGGATATTTGTCCCTGTCCAAATCTCTGTTGAGTTGTAATCTCCAATGCTGGAGGTGGGGCCTGGTGAGAGGTGTTTGGATCATGGGGGCAGATCCCTTGTGGCTTGGTGCCCTCTTTATGACAGTGAGTTCTCAAGAGACTGGGTCATTTAAATGTATAAGGTCCTCCCCCCCCAACTCTCTCTCTCTCTCGGTCTTGCTTTTGCCACAGCCATGTGATGTGCCTGCTCCCCCTTGGCCTTCCACCATGAGTAAGCTTCCCAAGGCCTCCCTAGAAGCCAAGAAGATACCAGCACCATGCTTCCTGTAAAGCCTGCTGGCCTGTGGGCCAATTAAGCCTCTTTTCTTTAGAAATTACCCAGTCTCCGGTATTTCTTTATAGTAATGCAAGAATGGCCTAATATGCATTGTTAAGATATAGCAGAAGCCAGTGGGGT 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Task1_train_5420 | The gene FN1 (fibronectin 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Glomerulopathy with fibronectin deposits 2 | CCTTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAGTGTAATGACAGAATCACAATCAGCTAGTATGCTTTGAAAAATATCTTTCTCCAGGACTGAATTGACAGGTATCTGGCAAACTTGCAGCGAAAGGAAAACATGAGTCTAGTCATGCCATTAGTACAGTCTTGAAATTGCATTTTCCTTCACTCATGCCTTTTGGGATGTATTAGGCTCTACCACTCCTACACAGAGAATGCTTTTTGAGGTTATCAGGAACAGAGTTTCGCATTCTCATGACACAGTATCAAAGACGCTGTGGGAGTTTGCTAAGGACTTCATGTGTCCTAGGTAGTAAGAAGGAAAATGACAGCATGGAAGCAGCAATACCAGTAATAGTAGCCTCTGTGACACCAGGGCGGGGCCGAGGGACCACTTCTCTGGGAGGAGACCCAGGCTTCTCATACTTGATGATGTAGCCGGTAATCCTGGCACGTGGCGGCTGCCATGATACCAGCAAGGAATTGGGTGTGGTGGCCAGGAAACGCAGGTTGGATGGTGCATCAATGGCTGAAAGAAAACAAAATTAAGTCTCTAAGAAGGCAAATAACCAAGAAAATTACTCCCACACTTTTCTCCCGAGCCGTTCTAAACACACTTAAAAGAATCTGAGAATACTGTAAACCGGAAACAAGATTCTCTGGAATCTATAATACAAAAATATACGCCTCACATTTGTTTTTTGAGTTCATGAAACTGATTGCATACAAGTCAATGGCATTTCCTCAGTAGAAGGTATAGTTACCAGTGGAGGCGTCGATGACCACAGGGGAGCTCCGAGCATTGTCATTCAAGGTGTACAGGTAGATCTTGTAGTCAGTGCCTGGTTGTAAACCTGGGATTTGAGAAGAGATGATTTTTAACAGTTCTTGCTTTTTACTAGGAGAATTCTCAAGCTAGCCTGCAATTTTTCTGGGTTCTTCTATCATCCCATATTTATATAGACTACCAAAGTGGTCCACATTTGAACAGTAAAGTAGAGCATGCTATGGATGTTAACTGTTAACAAGAAACATATCTCGAAAGTGAATCACTGATACAGACAAGGACACTGGTAAAGTAAATTCTGGAATGCAAAAATGCTATGTTGGAAGAGGCCCTCTTGCAGAATGGGGGTCAGCCACTTATTGAGGTTTTCTCTTTACCGTAATCAGATGGTCAATAGTTGAGCCTTGGAATCACAATTTTAAAAAGCTAAAAAAGACCTCAGATATTGAATATTCTTCGGTTACAATTTTGGCCTTTATTAAGTGGTATTGTTTACTTTTATATTAACTATGCTTTTTAATGCTAAGATCTATACATCACTGTTTTTTATTTCTTTTAGTTTTAAACCTTATGTTACAATTTTTTAAATAAGAAAGGGCACAATGATGGAAGATCAAACTTGTTGATTGACACTTACGCAATTTCCATGACAAATATTACACAAAATCAGGCATTCAAAGGACAAAACTATTTCTGATCATAGCATGAAAATAACGTTCTAAAACTGGGTTATGATGATAACACTGAAAATAAATTTTATCAGTGTCAGTCGTAGAACAGTTAATAAGCCCGTTTACATTGTGGGTATTTGTTAACAAATGTGGTTAGTGCAATGAGTTCCCTGACCTGTGATGGTGTAGCTTCTGACATCTGGCTTGATGGTTCTCTGGATTGGAGTCTGGCCATTGGCTGGAACGGCATCAACTTGGAAGCCAGTGATCGTCTCAGTCTTGGTTCTCCAGCTAATGGTGATGGTGGTCTCAGTAGCATCTGTCACACGAGCCCTTCTTGGTGGGCTGACATCTGCACAGGAGCATAGCTAGAGATTAGTGCCTGCTTGGCTCATCCATGTAAAGTTTTGGTATTTTAAAACGTTTCCTTGGTATATATCAAATTCATCCATTTCAAGAAATATATAACTAGTAATGTGTAGATTATCTCCTTTGGCATTCAGAGAGAAAGGTCAACTGTAATTAGAAAATAGGAAAATATCTACCTCTCAGACATTTTATTTTGAAGAGCTGAAAAGCTTTATAGATACTACCAGTGGTTCCCAGGGCTGGCTTTATAGTATCTACAAATACTTCAATAAATATTAAAATTATTAATGTATTATAATGTAAAAATATGTGTGGTAGGAGTTACAATAACATGGCCAGCTAACAATTTTGTGTGTGTGTGTGTGTATGTGTGTGTGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTAATATTACGGCAAGTATTTTGTATTTTCTCTCAACAGGTACAATGCCATCCCTCTTTTATAAATGATAAAACTTTGACACTTTACCTGACTTTTGAAAAGGCATACATCAAGGTATTGATATAACAGAAGACTAGAATCTAAGCCTGATTTGGTCCAATGGTTACTGTGCTGTGATATAATTTGGATATTTGTCCCTGTCCAAATCTCTGTTGAGTTGTAATCTCCAATGCTGGAGGTGGGGCCTGGTGAGAGGTGTTTGGATCATGGGGGCAGATCCCTTGTGGCTTGGTGCCCTCTTTATGACAGTGAGTTCTCAAGAGACTGGGTCATTTAAATGTATAAGGTCCTCCCCCCCCAACTCTCTCTCTCTCTCGGTCTTGCTTTTGCCACAGCCATGTGATGTGCCTGCTCCCCCTTGGCCTTCCACCATGAGTAAGCTTCCCAAGGCCTCCCTAGAAGCCAAGAAGATACCAGCACCATGCTTCCTGTAAAGCCTGCTGGCCTGTGGGCCAATTAAGCCTCTTTTCTTTAGAAATTACCCAGTCTCCGGTATTTCTTTATAGTAATGCAAGAATGGCCTAATATGCATTGTTAAGATATAGCAGAAGCCAGTGGGGTCTCCCCAAGCTTAGCTCTATGAAAACAAATTCTAACAAGTAGAGCATAAACTAGATGTCAGTCATAGTCCATAATATCAACATTATAAGCTTATGAAGTGATTCCATTTTATGGGTCAGTAGACCCCTTTCTGAAGGAGTATAAAAGATGACAGTCATGCGTCAAAAAGGCAATCAAATTGATTTTCAAATTAGGACTCATTCCACTGTTAACATATAAATCTAAAAAATTATTTATTTTATTTATTTTATTTTTTTTAAGAGACAGGGCCTTGCTATTTGCCCGGGTAGGTCTCAAACTCCTGGCCTCAAGTGACGCTCCCGCCTCAGCTTCCCAAAGTGCTTGGATTTTAGACATGAGCCACTGAACCCCACTGATTTACCATTCTTTAATTTTTGTCTATACAGAAGGTTTGTCCATATGAAGACATTTTGTTACTTACTCTCCAGAGTGGTGACAACTCCCTGAGCTGGTCTGCTTGTCAAAGTGTCCTTAAGAGCATAGACACTCACTTCATATTTGGTGGCCACCTAGAGAAATAAGGGCATGGTGAGCTTTAGCAACGTCCTCAACTGAAACCCAAGGAGTTTCACTACAGCATTAGGTAAATGCAATGGTTAGAAAATAAAAAATAAACAAACCAGCAAAACCCACAACCTTGAAAATTCCTAGATTAATTTCATTCCTACAGTGCAGGTGATAAATGTATTTATCAATTTTAAAATGCTCTTAGCGGTTAAGCTTAAGTAAGCCATAGATTATATACTTAAACTAAGCTGGTAAAAAAAATGAGAAAAGTGGGTATTAGCGTATTTTTCTTTTTTATGATCTGACAGGTGTAAATCATAATTTTTTCCTTATCATAGAGAGGCAAAGAGAATGTTCCATTTTGTCTCTGAACCCTCTTTCTGTAGTTTCCCCTGAA | CCTTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAGTGTAATGACAGAATCACAATCAGCTAGTATGCTTTGAAAAATATCTTTCTCCAGGACTGAATTGACAGGTATCTGGCAAACTTGCAGCGAAAGGAAAACATGAGTCTAGTCATGCCATTAGTACAGTCTTGAAATTGCATTTTCCTTCACTCATGCCTTTTGGGATGTATTAGGCTCTACCACTCCTACACAGAGAATGCTTTTTGAGGTTATCAGGAACAGAGTTTCGCATTCTCATGACACAGTATCAAAGACGCTGTGGGAGTTTGCTAAGGACTTCATGTGTCCTAGGTAGTAAGAAGGAAAATGACAGCATGGAAGCAGCAATACCAGTAATAGTAGCCTCTGTGACACCAGGGCGGGGCCGAGGGACCACTTCTCTGGGAGGAGACCCAGGCTTCTCATACTTGATGATGTAGCCGGTAATCCTGGCACGTGGCGGCTGCCATGATACCAGCAAGGAATTGGGTGTGGTGGCCAGGAAACGCAGGTTGGATGGTGCATCAATGGCTGAAAGAAAACAAAATTAAGTCTCTAAGAAGGCAAATAACCAAGAAAATTACTCCCACACTTTTCTCCCGAGCCGTTCTAAACACACTTAAAAGAATCTGAGAATACTGTAAACCGGAAACAAGATTCTCTGGAATCTATAATACAAAAATATACGCCTCACATTTGTTTTTTGAGTTCATGAAACTGATTGCATACAAGTCAATGGCATTTCCTCAGTAGAAGGTATAGTTACCAGTGGAGGCGTCGATGACCACAGGGGAGCTCCGAGCATTGTCATTCAAGGTGTACAGGTAGATCTTGTAGTCAGTGCCTGGTTGTAAACCTGGGATTTGAGAAGAGATGATTTTTAACAGTTCTTGCTTTTTACTAGGAGAATTCTCAAGCTAGCCTGCAATTTTTCTGGGTTCTTCTATCATCCCATATTTATATAGACTACCAAAGTGGTCCACATTTGAACAGTAAAGTAGAGCATGCTATGGATGTTAACTGTTAACAAGAAACATATCTCGAAAGTGAATCACTGATACAGACAAGGACACTGGTAAAGTAAATTCTGGAATGCAAAAATGCTATGTTGGAAGAGGCCCTCTTGCAGAATGGGGGTCAGCCACTTATTGAGGTTTTCTCTTTACCGTAATCAGATGGTCAATAGTTGAGCCTTGGAATCACAATTTTAAAAAGCTAAAAAAGACCTCAGATATTGAATATTCTTCGGTTACAATTTTGGCCTTTATTAAGTGGTATTGTTTACTTTTATATTAACTATGCTTTTTAATGCTAAGATCTATACATCACTGTTTTTTATTTCTTTTAGTTTTAAACCTTATGTTACAATTTTTTAAATAAGAAAGGGCACAATGATGGAAGATCAAACTTGTTGATTGACACTTACGCAATTTCCATGACAAATATTACACAAAATCAGGCATTCAAAGGACAAAACTATTTCTGATCATAGCATGAAAATAACGTTCTAAAACTGGGTTATGATGATAACACTGAAAATAAATTTTATCAGTGTCAGTCGTAGAACAGTTAATAAGCCCGTTTACATTGTGGGTATTTGTTAACAAATGTGGTTAGTGCAATGAGTTCCCTGACCTGTGATGGTGTAGCTTCTGACATCTGGCTTGATGGTTCTCTGGATTGGAGTCTGGCCATTGGCTGGAACGGCATCAACTTGGAAGCCAGTGATCGTCTCAGTCTTGGTTCTGCAGCTAATGGTGATGGTGGTCTCAGTAGCATCTGTCACACGAGCCCTTCTTGGTGGGCTGACATCTGCACAGGAGCATAGCTAGAGATTAGTGCCTGCTTGGCTCATCCATGTAAAGTTTTGGTATTTTAAAACGTTTCCTTGGTATATATCAAATTCATCCATTTCAAGAAATATATAACTAGTAATGTGTAGATTATCTCCTTTGGCATTCAGAGAGAAAGGTCAACTGTAATTAGAAAATAGGAAAATATCTACCTCTCAGACATTTTATTTTGAAGAGCTGAAAAGCTTTATAGATACTACCAGTGGTTCCCAGGGCTGGCTTTATAGTATCTACAAATACTTCAATAAATATTAAAATTATTAATGTATTATAATGTAAAAATATGTGTGGTAGGAGTTACAATAACATGGCCAGCTAACAATTTTGTGTGTGTGTGTGTGTATGTGTGTGTGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTAATATTACGGCAAGTATTTTGTATTTTCTCTCAACAGGTACAATGCCATCCCTCTTTTATAAATGATAAAACTTTGACACTTTACCTGACTTTTGAAAAGGCATACATCAAGGTATTGATATAACAGAAGACTAGAATCTAAGCCTGATTTGGTCCAATGGTTACTGTGCTGTGATATAATTTGGATATTTGTCCCTGTCCAAATCTCTGTTGAGTTGTAATCTCCAATGCTGGAGGTGGGGCCTGGTGAGAGGTGTTTGGATCATGGGGGCAGATCCCTTGTGGCTTGGTGCCCTCTTTATGACAGTGAGTTCTCAAGAGACTGGGTCATTTAAATGTATAAGGTCCTCCCCCCCCAACTCTCTCTCTCTCTCGGTCTTGCTTTTGCCACAGCCATGTGATGTGCCTGCTCCCCCTTGGCCTTCCACCATGAGTAAGCTTCCCAAGGCCTCCCTAGAAGCCAAGAAGATACCAGCACCATGCTTCCTGTAAAGCCTGCTGGCCTGTGGGCCAATTAAGCCTCTTTTCTTTAGAAATTACCCAGTCTCCGGTATTTCTTTATAGTAATGCAAGAATGGCCTAATATGCATTGTTAAGATATAGCAGAAGCCAGTGGGGTCTCCCCAAGCTTAGCTCTATGAAAACAAATTCTAACAAGTAGAGCATAAACTAGATGTCAGTCATAGTCCATAATATCAACATTATAAGCTTATGAAGTGATTCCATTTTATGGGTCAGTAGACCCCTTTCTGAAGGAGTATAAAAGATGACAGTCATGCGTCAAAAAGGCAATCAAATTGATTTTCAAATTAGGACTCATTCCACTGTTAACATATAAATCTAAAAAATTATTTATTTTATTTATTTTATTTTTTTTAAGAGACAGGGCCTTGCTATTTGCCCGGGTAGGTCTCAAACTCCTGGCCTCAAGTGACGCTCCCGCCTCAGCTTCCCAAAGTGCTTGGATTTTAGACATGAGCCACTGAACCCCACTGATTTACCATTCTTTAATTTTTGTCTATACAGAAGGTTTGTCCATATGAAGACATTTTGTTACTTACTCTCCAGAGTGGTGACAACTCCCTGAGCTGGTCTGCTTGTCAAAGTGTCCTTAAGAGCATAGACACTCACTTCATATTTGGTGGCCACCTAGAGAAATAAGGGCATGGTGAGCTTTAGCAACGTCCTCAACTGAAACCCAAGGAGTTTCACTACAGCATTAGGTAAATGCAATGGTTAGAAAATAAAAAATAAACAAACCAGCAAAACCCACAACCTTGAAAATTCCTAGATTAATTTCATTCCTACAGTGCAGGTGATAAATGTATTTATCAATTTTAAAATGCTCTTAGCGGTTAAGCTTAAGTAAGCCATAGATTATATACTTAAACTAAGCTGGTAAAAAAAATGAGAAAAGTGGGTATTAGCGTATTTTTCTTTTTTATGATCTGACAGGTGTAAATCATAATTTTTTCCTTATCATAGAGAGGCAAAGAGAATGTTCCATTTTGTCTCTGAACCCTCTTTCTGTAGTTTCCCCTGAA 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Task1_train_5421 | An alteration has been detected in FN1 (fibronectin 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Glomerulopathy with fibronectin deposits 2 | TTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAGTGTAATGACAGAATCACAATCAGCTAGTATGCTTTGAAAAATATCTTTCTCCAGGACTGAATTGACAGGTATCTGGCAAACTTGCAGCGAAAGGAAAACATGAGTCTAGTCATGCCATTAGTACAGTCTTGAAATTGCATTTTCCTTCACTCATGCCTTTTGGGATGTATTAGGCTCTACCACTCCTACACAGAGAATGCTTTTTGAGGTTATCAGGAACAGAGTTTCGCATTCTCATGACACAGTATCAAAGACGCTGTGGGAGTTTGCTAAGGACTTCATGTGTCCTAGGTAGTAAGAAGGAAAATGACAGCATGGAAGCAGCAATACCAGTAATAGTAGCCTCTGTGACACCAGGGCGGGGCCGAGGGACCACTTCTCTGGGAGGAGACCCAGGCTTCTCATACTTGATGATGTAGCCGGTAATCCTGGCACGTGGCGGCTGCCATGATACCAGCAAGGAATTGGGTGTGGTGGCCAGGAAACGCAGGTTGGATGGTGCATCAATGGCTGAAAGAAAACAAAATTAAGTCTCTAAGAAGGCAAATAACCAAGAAAATTACTCCCACACTTTTCTCCCGAGCCGTTCTAAACACACTTAAAAGAATCTGAGAATACTGTAAACCGGAAACAAGATTCTCTGGAATCTATAATACAAAAATATACGCCTCACATTTGTTTTTTGAGTTCATGAAACTGATTGCATACAAGTCAATGGCATTTCCTCAGTAGAAGGTATAGTTACCAGTGGAGGCGTCGATGACCACAGGGGAGCTCCGAGCATTGTCATTCAAGGTGTACAGGTAGATCTTGTAGTCAGTGCCTGGTTGTAAACCTGGGATTTGAGAAGAGATGATTTTTAACAGTTCTTGCTTTTTACTAGGAGAATTCTCAAGCTAGCCTGCAATTTTTCTGGGTTCTTCTATCATCCCATATTTATATAGACTACCAAAGTGGTCCACATTTGAACAGTAAAGTAGAGCATGCTATGGATGTTAACTGTTAACAAGAAACATATCTCGAAAGTGAATCACTGATACAGACAAGGACACTGGTAAAGTAAATTCTGGAATGCAAAAATGCTATGTTGGAAGAGGCCCTCTTGCAGAATGGGGGTCAGCCACTTATTGAGGTTTTCTCTTTACCGTAATCAGATGGTCAATAGTTGAGCCTTGGAATCACAATTTTAAAAAGCTAAAAAAGACCTCAGATATTGAATATTCTTCGGTTACAATTTTGGCCTTTATTAAGTGGTATTGTTTACTTTTATATTAACTATGCTTTTTAATGCTAAGATCTATACATCACTGTTTTTTATTTCTTTTAGTTTTAAACCTTATGTTACAATTTTTTAAATAAGAAAGGGCACAATGATGGAAGATCAAACTTGTTGATTGACACTTACGCAATTTCCATGACAAATATTACACAAAATCAGGCATTCAAAGGACAAAACTATTTCTGATCATAGCATGAAAATAACGTTCTAAAACTGGGTTATGATGATAACACTGAAAATAAATTTTATCAGTGTCAGTCGTAGAACAGTTAATAAGCCCGTTTACATTGTGGGTATTTGTTAACAAATGTGGTTAGTGCAATGAGTTCCCTGACCTGTGATGGTGTAGCTTCTGACATCTGGCTTGATGGTTCTCTGGATTGGAGTCTGGCCATTGGCTGGAACGGCATCAACTTGGAAGCCAGTGATCGTCTCAGTCTTGGTTCTCCAGCTAATGGTGATGGTGGTCTCAGTAGCATCTGTCACACGAGCCCTTCTTGGTGGGCTGACATCTGCACAGGAGCATAGCTAGAGATTAGTGCCTGCTTGGCTCATCCATGTAAAGTTTTGGTATTTTAAAACGTTTCCTTGGTATATATCAAATTCATCCATTTCAAGAAATATATAACTAGTAATGTGTAGATTATCTCCTTTGGCATTCAGAGAGAAAGGTCAACTGTAATTAGAAAATAGGAAAATATCTACCTCTCAGACATTTTATTTTGAAGAGCTGAAAAGCTTTATAGATACTACCAGTGGTTCCCAGGGCTGGCTTTATAGTATCTACAAATACTTCAATAAATATTAAAATTATTAATGTATTATAATGTAAAAATATGTGTGGTAGGAGTTACAATAACATGGCCAGCTAACAATTTTGTGTGTGTGTGTGTGTATGTGTGTGTGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTAATATTACGGCAAGTATTTTGTATTTTCTCTCAACAGGTACAATGCCATCCCTCTTTTATAAATGATAAAACTTTGACACTTTACCTGACTTTTGAAAAGGCATACATCAAGGTATTGATATAACAGAAGACTAGAATCTAAGCCTGATTTGGTCCAATGGTTACTGTGCTGTGATATAATTTGGATATTTGTCCCTGTCCAAATCTCTGTTGAGTTGTAATCTCCAATGCTGGAGGTGGGGCCTGGTGAGAGGTGTTTGGATCATGGGGGCAGATCCCTTGTGGCTTGGTGCCCTCTTTATGACAGTGAGTTCTCAAGAGACTGGGTCATTTAAATGTATAAGGTCCTCCCCCCCCAACTCTCTCTCTCTCTCGGTCTTGCTTTTGCCACAGCCATGTGATGTGCCTGCTCCCCCTTGGCCTTCCACCATGAGTAAGCTTCCCAAGGCCTCCCTAGAAGCCAAGAAGATACCAGCACCATGCTTCCTGTAAAGCCTGCTGGCCTGTGGGCCAATTAAGCCTCTTTTCTTTAGAAATTACCCAGTCTCCGGTATTTCTTTATAGTAATGCAAGAATGGCCTAATATGCATTGTTAAGATATAGCAGAAGCCAGTGGGGTCTCCCCAAGCTTAGCTCTATGAAAACAAATTCTAACAAGTAGAGCATAAACTAGATGTCAGTCATAGTCCATAATATCAACATTATAAGCTTATGAAGTGATTCCATTTTATGGGTCAGTAGACCCCTTTCTGAAGGAGTATAAAAGATGACAGTCATGCGTCAAAAAGGCAATCAAATTGATTTTCAAATTAGGACTCATTCCACTGTTAACATATAAATCTAAAAAATTATTTATTTTATTTATTTTATTTTTTTTAAGAGACAGGGCCTTGCTATTTGCCCGGGTAGGTCTCAAACTCCTGGCCTCAAGTGACGCTCCCGCCTCAGCTTCCCAAAGTGCTTGGATTTTAGACATGAGCCACTGAACCCCACTGATTTACCATTCTTTAATTTTTGTCTATACAGAAGGTTTGTCCATATGAAGACATTTTGTTACTTACTCTCCAGAGTGGTGACAACTCCCTGAGCTGGTCTGCTTGTCAAAGTGTCCTTAAGAGCATAGACACTCACTTCATATTTGGTGGCCACCTAGAGAAATAAGGGCATGGTGAGCTTTAGCAACGTCCTCAACTGAAACCCAAGGAGTTTCACTACAGCATTAGGTAAATGCAATGGTTAGAAAATAAAAAATAAACAAACCAGCAAAACCCACAACCTTGAAAATTCCTAGATTAATTTCATTCCTACAGTGCAGGTGATAAATGTATTTATCAATTTTAAAATGCTCTTAGCGGTTAAGCTTAAGTAAGCCATAGATTATATACTTAAACTAAGCTGGTAAAAAAAATGAGAAAAGTGGGTATTAGCGTATTTTTCTTTTTTATGATCTGACAGGTGTAAATCATAATTTTTTCCTTATCATAGAGAGGCAAAGAGAATGTTCCATTTTGTCTCTGAACCCTCTTTCTGTAGTTTCCCCTGAAAT 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TTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAGTGTAATGACAGAATCACAATCAGCTAGTATGCTTTGAAAAATATCTTTCTCCAGGACTGAATTGACAGGTATCTGGCAAACTTGCAGCGAAAGGAAAACATGAGTCTAGTCATGCCATTAGTACAGTCTTGAAATTGCATTTTCCTTCACTCATGCCTTTTGGGATGTATTAGGCTCTACCACTCCTACACAGAGAATGCTTTTTGAGGTTATCAGGAACAGAGTTTCGCATTCTCATGACACAGTATCAAAGACGCTGTGGGAGTTTGCTAAGGACTTCATGTGTCCTAGGTAGTAAGAAGGAAAATGACAGCATGGAAGCAGCAATACCAGTAATAGTAGCCTCTGTGACACCAGGGCGGGGCCGAGGGACCACTTCTCTGGGAGGAGACCCAGGCTTCTCATACTTGATGATGTAGCCGGTAATCCTGGCACGTGGCGGCTGCCATGATACCAGCAAGGAATTGGGTGTGGTGGCCAGGAAACGCAGGTTGGATGGTGCATCAATGGCTGAAAGAAAACAAAATTAAGTCTCTAAGAAGGCAAATAACCAAGAAAATTACTCCCACACTTTTCTCCCGAGCCGTTCTAAACACACTTAAAAGAATCTGAGAATACTGTAAACCGGAAACAAGATTCTCTGGAATCTATAATACAAAAATATACGCCTCACATTTGTTTTTTGAGTTCATGAAACTGATTGCATACAAGTCAATGGCATTTCCTCAGTAGAAGGTATAGTTACCAGTGGAGGCGTCGATGACCACAGGGGAGCTCCGAGCATTGTCATTCAAGGTGTACAGGTAGATCTTGTAGTCAGTGCCTGGTTGTAAACCTGGGATTTGAGAAGAGATGATTTTTAACAGTTCTTGCTTTTTACTAGGAGAATTCTCAAGCTAGCCTGCAATTTTTCTGGGTTCTTCTATCATCCCATATTTATATAGACTACCAAAGTGGTCCACATTTGAACAGTAAAGTAGAGCATGCTATGGATGTTAACTGTTAACAAGAAACATATCTCGAAAGTGAATCACTGATACAGACAAGGACACTGGTAAAGTAAATTCTGGAATGCAAAAATGCTATGTTGGAAGAGGCCCTCTTGCAGAATGGGGGTCAGCCACTTATTGAGGTTTTCTCTTTACCGTAATCAGATGGTCAATAGTTGAGCCTTGGAATCACAATTTTAAAAAGCTAAAAAAGACCTCAGATATTGAATATTCTTCGGTTACAATTTTGGCCTTTATTAAGTGGTATTGTTTACTTTTATATTAACTATGCTTTTTAATGCTAAGATCTATACATCACTGTTTTTTATTTCTTTTAGTTTTAAACCTTATGTTACAATTTTTTAAATAAGAAAGGGCACAATGATGGAAGATCAAACTTGTTGATTGACACTTACGCAATTTCCATGACAAATATTACACAAAATCAGGCATTCAAAGGACAAAACTATTTCTGATCATAGCATGAAAATAACGTTCTAAAACTGGGTTATGATGATAACACTGAAAATAAATTTTATCAGTGTCAGTCGTAGAACAGTTAATAAGCCCGTTTACATTGTGGGTATTTGTTAACAAATGTGGTTAGTGCAATGAGTTCCCTGACCTGTGATGGTGTAGCTTCTGACATCTGGCTTGATGGTTCTCTGGATTGGAGTCTGGCCATTGGCTGGAACGGCATCAACTTGGAAGCCAGTGATCGTCTCAGTCTTGGTTCTCCTGCTAATGGTGATGGTGGTCTCAGTAGCATCTGTCACACGAGCCCTTCTTGGTGGGCTGACATCTGCACAGGAGCATAGCTAGAGATTAGTGCCTGCTTGGCTCATCCATGTAAAGTTTTGGTATTTTAAAACGTTTCCTTGGTATATATCAAATTCATCCATTTCAAGAAATATATAACTAGTAATGTGTAGATTATCTCCTTTGGCATTCAGAGAGAAAGGTCAACTGTAATTAGAAAATAGGAAAATATCTACCTCTCAGACATTTTATTTTGAAGAGCTGAAAAGCTTTATAGATACTACCAGTGGTTCCCAGGGCTGGCTTTATAGTATCTACAAATACTTCAATAAATATTAAAATTATTAATGTATTATAATGTAAAAATATGTGTGGTAGGAGTTACAATAACATGGCCAGCTAACAATTTTGTGTGTGTGTGTGTGTATGTGTGTGTGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTAATATTACGGCAAGTATTTTGTATTTTCTCTCAACAGGTACAATGCCATCCCTCTTTTATAAATGATAAAACTTTGACACTTTACCTGACTTTTGAAAAGGCATACATCAAGGTATTGATATAACAGAAGACTAGAATCTAAGCCTGATTTGGTCCAATGGTTACTGTGCTGTGATATAATTTGGATATTTGTCCCTGTCCAAATCTCTGTTGAGTTGTAATCTCCAATGCTGGAGGTGGGGCCTGGTGAGAGGTGTTTGGATCATGGGGGCAGATCCCTTGTGGCTTGGTGCCCTCTTTATGACAGTGAGTTCTCAAGAGACTGGGTCATTTAAATGTATAAGGTCCTCCCCCCCCAACTCTCTCTCTCTCTCGGTCTTGCTTTTGCCACAGCCATGTGATGTGCCTGCTCCCCCTTGGCCTTCCACCATGAGTAAGCTTCCCAAGGCCTCCCTAGAAGCCAAGAAGATACCAGCACCATGCTTCCTGTAAAGCCTGCTGGCCTGTGGGCCAATTAAGCCTCTTTTCTTTAGAAATTACCCAGTCTCCGGTATTTCTTTATAGTAATGCAAGAATGGCCTAATATGCATTGTTAAGATATAGCAGAAGCCAGTGGGGTCTCCCCAAGCTTAGCTCTATGAAAACAAATTCTAACAAGTAGAGCATAAACTAGATGTCAGTCATAGTCCATAATATCAACATTATAAGCTTATGAAGTGATTCCATTTTATGGGTCAGTAGACCCCTTTCTGAAGGAGTATAAAAGATGACAGTCATGCGTCAAAAAGGCAATCAAATTGATTTTCAAATTAGGACTCATTCCACTGTTAACATATAAATCTAAAAAATTATTTATTTTATTTATTTTATTTTTTTTAAGAGACAGGGCCTTGCTATTTGCCCGGGTAGGTCTCAAACTCCTGGCCTCAAGTGACGCTCCCGCCTCAGCTTCCCAAAGTGCTTGGATTTTAGACATGAGCCACTGAACCCCACTGATTTACCATTCTTTAATTTTTGTCTATACAGAAGGTTTGTCCATATGAAGACATTTTGTTACTTACTCTCCAGAGTGGTGACAACTCCCTGAGCTGGTCTGCTTGTCAAAGTGTCCTTAAGAGCATAGACACTCACTTCATATTTGGTGGCCACCTAGAGAAATAAGGGCATGGTGAGCTTTAGCAACGTCCTCAACTGAAACCCAAGGAGTTTCACTACAGCATTAGGTAAATGCAATGGTTAGAAAATAAAAAATAAACAAACCAGCAAAACCCACAACCTTGAAAATTCCTAGATTAATTTCATTCCTACAGTGCAGGTGATAAATGTATTTATCAATTTTAAAATGCTCTTAGCGGTTAAGCTTAAGTAAGCCATAGATTATATACTTAAACTAAGCTGGTAAAAAAAATGAGAAAAGTGGGTATTAGCGTATTTTTCTTTTTTATGATCTGACAGGTGTAAATCATAATTTTTTCCTTATCATAGAGAGGCAAAGAGAATGTTCCATTTTGTCTCTGAACCCTCTTTCTGTAGTTTCCCCTGAAAT 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Task1_train_5422 | Here is a mutation in FN1 (fibronectin 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Inborn genetic diseases | TTTAGTAATTTCAAAAACATGCAAGCCTTGTGGATGTTTACAGCCTTAGGGAGTGCTTAAAGTTCAAATGGAGTTGTAGAATACCCTGCTTACATTAGTTTATTTAAATATAAGCTTCATTTAGCTGTTTTTATTATTATTCCTTTCTCAATTATCTATTCACCAAATAGTTTTTGAAAGCATACAATGTTCCAGACACTATGTTAACCTTTATCTAATAAAATTAGTTTTGGCTATCAGTACTTCAGTTAAAATCATTATATTTTATATGAATGTATTATGCAAAGCATAAAATAATATATCCAATATATCAGTCTTCAGAAGTACTTGAAATATCTTGGCCCACCACCTTCCCTTAATTATTGTTAGCATCATTAAAAATGCTTTTTCTTTTATAAGCACTGTGTTCAACAAAAGAAACTACATAAAATATGTCTCATGTTAAGGAATGAACAAGACAACTATAGAATTCTACATTTTAGTAAAAGACGACATCTACTGAAAGGGCGCATTCACTGAAATCTCCATTCTAATTCACTGAAGGACATTTATAAGAAATGAATATTTACAAGAAATATAAAGACATTAATTTCATGAGAGTAGATCTTAGACTATCTTAGAACCGTGTAAAATTTTAGCCAAATTTTCAAGTAAGCTTATTTGCAAATTAAAAGTGAATTTTACTTGCTTACGATTAACTATTATTTAGGAAAAAGCCTTCATGAGCCAAACTTCATACAGTAAATTTAAATGGAAGTAAGTTTTTCTTAAAGTATGAATTCTTATGGGGAAAAGTTTGTATTTTCTTTGGGAAATCAATTCCATAGTTATTTACAAACTAGGCTTGTATGGACTTTTTGAATGCTTTTTAACATCCATACTTTTAAATTAGTCGAAGAGTAACATTTGTTGAAAGCTCTTAGAAAATTGCAAACTAGTCCATGGTTAGAATATATGCTGAAAAAGTACTTATGTTAGGTGCTTCTATAATTCAAAATGTCGAGTTGAAAATAACAAATGATGTTCAGCTAGAAATAAGGAGTCTCATAATTCTCTGTAATGTAAATGGAAATGTATTTAATAGGAATCGGTTTGTGAATAGAGGTTGTTATTGTGATGTAGATATGTGGGAGATTTAAGACCACTTCCTTTAAAATGTTGAGCAAAAGGATAGACATGACCAAAAATTATTGTTAGTATTTTTCTCCTCTGAGGAATTTCAAGAGTAATTTAAGAAAAGAGCGATTCCGTCTGCAAAAGTACTTTAATCTTCTGCAGCCAACACTCATAAAGAAATCATTTCCTTGGCTTCATGTTCAATTAGTTGGTTCCCATTCAATCCATAGATATTTTTATTCTGCATTTATAGTTACTATTCAATGCCCAAAGTAATAGAATGTAGACATAGGTGCTAATTTTTTCTTGCGTTAACTAGTGTTTGGTAAATTCATTTAATGTAATCGAATTTAATTTTTCTAATAACAGACTGCTTTAAACCCATGTTACTCAAAGTGCTGGCCCTAGAGGAAAGAGCGAGCTTGGCAATGTGTGCAAATTAACACACTGCTTCCTTCATCAAGAAAATCTGGCTTCAGAAAAATTCTCAGCTGTACTAAGCAGTGTGCTTTGTGATTTACGTTCTGGCACAACCGTTTTTCTTGTTGCAGACTAGCAGCAAACAATTAACGGGCCAGCAGCCAGTCTATGGAGCACATTTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTCCATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAAACTGAGCCAGTAAGAGATTGAGTGCTACACAAAACTTTGCCAAAACTCTGCCAGTCATGAGAAATTGTGGAACCATTTTGCTTGACTGTGATCCTTTGGGAAGTCTAATTTTCCAGCAAGACTTTCGCATCAGTCTCAGAAATTATAGTTACATTAAAGCAATGGTATTTTTAAAAAGGCAAAACAAACACTTCTGAAGTTCACAGTTAGCTCTGAGCCAAACAGATTAAGGAAAAAGGGATATGCCTCCTAAAATGACAGCAAGAAGAAGCTCTCTATGGGTCAAAAGCAATATTCTGTGAATAGCCCTTTGCTAGAGAAATAAAAGTTATTTTCACATGGTTCAGATTAGACAGTAATTACAGTAATGATAACGTATCCTCAGATTCATGGTAGGATACTGGTGAGTTTGCACTATCAGAATCACATAAGTTGTGGAGTTTATTCTTGAGAATAATAACCAGCAGTTTTCCCACCGAAATTTAAATTACCTTTCAAATAGAGGAAATCTTTAAGAGGCAGTCGAGTATAATAATTGAGAGCATGGGCTTCGGACATAGGTTATAGAGCCAGCTCTATCCCTTCCTATCTCTGTGACCCTACAAGTTGCAGAACTTTTTTAAAGCCTCAGTTTCTTTAAGTATTCAATACGGATACTAGTAAGACCTTCCGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTTCAGACCAGCTTGGCCAACACAGCGAAACCCATTTCTACTAAAAACACAAAAATTAGCAGGGCATGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGTGGTAGAGGTTCCAGTGAGCTGAGATGGTGCCACTGTACTCCAGCCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAAATAATAATAATAAGACCTTCCTTCCTAAGGTCAAAACAAAGAGTAAATATGAGAATAATGCTTGTAAAAACTGAGCAGATAAGCTGGTGGCTAGTAATACTAGACACTTGACAATTGCTATTGTTAAATGAATTCTACTCTAAGTGTTATGATCCTGCATTTTAACTTTGATCTAGATATATTTAGTTACACGAAAAATGCACTCAAATTAGATTCTCTTCAGTTCTCCCCTCTTAGTACCCTTCAGCTGGTACATGTATTTTAGAAATGGGTTACCACTTAGCATCCATGGAGCTTGTCTGAGTTTTGTTTTCAAGTTTAATGTGCTTTGTGTTCACTATGCATTCCCTTGCCGGCTGGGTATTTCCCTCTCTCTAAGCCATACACCTCTGAGTGAATGGTTTACTGCACTTTCTCACAGGCTGCAAGTGAGGGTGGAGAATTTGGAGGGGAGATAGAGATAGGAGAAGACATACTGGTTGTCTGTTGAGCAGTCAGAGGCTTGCTCTCCCTCCCATGGCTCACTGCAAAGACTTTGAAGTAATAGGTGACCCCAGGGGACAGCCCGGTGACTTCTGCAAAGGTGTTCCTGCTGATGGGCAGCCTCTGCCCGTGCTCGCCAGGCAGGTTGACGGGGATCACATCCACACGGTAGCCGGTCACTGCACTCTCAGGCGGTGTCCACATGATGGTGACCTTCACGTCTGTCACTTCCACAAACTGCAGGTCCCTGGGAGAGGGCACTGTATCTGACAGACAAGAGTCAACTGGTCATTCACATTCTCTGCTGAAGATTACTTTTAAGAAGCCAGTTTCTTGGATATGTTAGGCAGTTCATTGAGCCTCTCATTCGAGAGTTTTGCTAAGTTTTGTCTCT 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TTTAGTAATTTCAAAAACATGCAAGCCTTGTGGATGTTTACAGCCTTAGGGAGTGCTTAAAGTTCAAATGGAGTTGTAGAATACCCTGCTTACATTAGTTTATTTAAATATAAGCTTCATTTAGCTGTTTTTATTATTATTCCTTTCTCAATTATCTATTCACCAAATAGTTTTTGAAAGCATACAATGTTCCAGACACTATGTTAACCTTTATCTAATAAAATTAGTTTTGGCTATCAGTACTTCAGTTAAAATCATTATATTTTATATGAATGTATTATGCAAAGCATAAAATAATATATCCAATATATCAGTCTTCAGAAGTACTTGAAATATCTTGGCCCACCACCTTCCCTTAATTATTGTTAGCATCATTAAAAATGCTTTTTCTTTTATAAGCACTGTGTTCAACAAAAGAAACTACATAAAATATGTCTCATGTTAAGGAATGAACAAGACAACTATAGAATTCTACATTTTAGTAAAAGACGACATCTACTGAAAGGGCGCATTCACTGAAATCTCCATTCTAATTCACTGAAGGACATTTATAAGAAATGAATATTTACAAGAAATATAAAGACATTAATTTCATGAGAGTAGATCTTAGACTATCTTAGAACCGTGTAAAATTTTAGCCAAATTTTCAAGTAAGCTTATTTGCAAATTAAAAGTGAATTTTACTTGCTTACGATTAACTATTATTTAGGAAAAAGCCTTCATGAGCCAAACTTCATACAGTAAATTTAAATGGAAGTAAGTTTTTCTTAAAGTATGAATTCTTATGGGGAAAAGTTTGTATTTTCTTTGGGAAATCAATTCCATAGTTATTTACAAACTAGGCTTGTATGGACTTTTTGAATGCTTTTTAACATCCATACTTTTAAATTAGTCGAAGAGTAACATTTGTTGAAAGCTCTTAGAAAATTGCAAACTAGTCCATGGTTAGAATATATGCTGAAAAAGTACTTATGTTAGGTGCTTCTATAATTCAAAATGTCGAGTTGAAAATAACAAATGATGTTCAGCTAGAAATAAGGAGTCTCATAATTCTCTGTAATGTAAATGGAAATGTATTTAATAGGAATCGGTTTGTGAATAGAGGTTGTTATTGTGATGTAGATATGTGGGAGATTTAAGACCACTTCCTTTAAAATGTTGAGCAAAAGGATAGACATGACCAAAAATTATTGTTAGTATTTTTCTCCTCTGAGGAATTTCAAGAGTAATTTAAGAAAAGAGCGATTCCGTCTGCAAAAGTACTTTAATCTTCTGCAGCCAACACTCATAAAGAAATCATTTCCTTGGCTTCATGTTCAATTAGTTGGTTCCCATTCAATCCATAGATATTTTTATTCTGCATTTATAGTTACTATTCAATGCCCAAAGTAATAGAATGTAGACATAGGTGCTAATTTTTTCTTGCGTTAACTAGTGTTTGGTAAATTCATTTAATGTAATCGAATTTAATTTTTCTAATAACAGACTGCTTTAAACCCATGTTACTCAAAGTGCTGGCCCTAGAGGAAAGAGCGAGCTTGGCAATGTGTGCAAATTAACACACTGCTTCCTTCATCAAGAAAATCTGGCTTCAGAAAAATTCTCAGCTGTACTAAGCAGTGTGCTTTGTGATTTACGTTCTGGCACAACCGTTTTTCTTGTTGCAGACTAGCAGCAAACAATTAACGGGCCAGCAGCCAGTCTATGGAGCACATTTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTACATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAAACTGAGCCAGTAAGAGATTGAGTGCTACACAAAACTTTGCCAAAACTCTGCCAGTCATGAGAAATTGTGGAACCATTTTGCTTGACTGTGATCCTTTGGGAAGTCTAATTTTCCAGCAAGACTTTCGCATCAGTCTCAGAAATTATAGTTACATTAAAGCAATGGTATTTTTAAAAAGGCAAAACAAACACTTCTGAAGTTCACAGTTAGCTCTGAGCCAAACAGATTAAGGAAAAAGGGATATGCCTCCTAAAATGACAGCAAGAAGAAGCTCTCTATGGGTCAAAAGCAATATTCTGTGAATAGCCCTTTGCTAGAGAAATAAAAGTTATTTTCACATGGTTCAGATTAGACAGTAATTACAGTAATGATAACGTATCCTCAGATTCATGGTAGGATACTGGTGAGTTTGCACTATCAGAATCACATAAGTTGTGGAGTTTATTCTTGAGAATAATAACCAGCAGTTTTCCCACCGAAATTTAAATTACCTTTCAAATAGAGGAAATCTTTAAGAGGCAGTCGAGTATAATAATTGAGAGCATGGGCTTCGGACATAGGTTATAGAGCCAGCTCTATCCCTTCCTATCTCTGTGACCCTACAAGTTGCAGAACTTTTTTAAAGCCTCAGTTTCTTTAAGTATTCAATACGGATACTAGTAAGACCTTCCGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTTCAGACCAGCTTGGCCAACACAGCGAAACCCATTTCTACTAAAAACACAAAAATTAGCAGGGCATGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGTGGTAGAGGTTCCAGTGAGCTGAGATGGTGCCACTGTACTCCAGCCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAAATAATAATAATAAGACCTTCCTTCCTAAGGTCAAAACAAAGAGTAAATATGAGAATAATGCTTGTAAAAACTGAGCAGATAAGCTGGTGGCTAGTAATACTAGACACTTGACAATTGCTATTGTTAAATGAATTCTACTCTAAGTGTTATGATCCTGCATTTTAACTTTGATCTAGATATATTTAGTTACACGAAAAATGCACTCAAATTAGATTCTCTTCAGTTCTCCCCTCTTAGTACCCTTCAGCTGGTACATGTATTTTAGAAATGGGTTACCACTTAGCATCCATGGAGCTTGTCTGAGTTTTGTTTTCAAGTTTAATGTGCTTTGTGTTCACTATGCATTCCCTTGCCGGCTGGGTATTTCCCTCTCTCTAAGCCATACACCTCTGAGTGAATGGTTTACTGCACTTTCTCACAGGCTGCAAGTGAGGGTGGAGAATTTGGAGGGGAGATAGAGATAGGAGAAGACATACTGGTTGTCTGTTGAGCAGTCAGAGGCTTGCTCTCCCTCCCATGGCTCACTGCAAAGACTTTGAAGTAATAGGTGACCCCAGGGGACAGCCCGGTGACTTCTGCAAAGGTGTTCCTGCTGATGGGCAGCCTCTGCCCGTGCTCGCCAGGCAGGTTGACGGGGATCACATCCACACGGTAGCCGGTCACTGCACTCTCAGGCGGTGTCCACATGATGGTGACCTTCACGTCTGTCACTTCCACAAACTGCAGGTCCCTGGGAGAGGGCACTGTATCTGACAGACAAGAGTCAACTGGTCATTCACATTCTCTGCTGAAGATTACTTTTAAGAAGCCAGTTTCTTGGATATGTTAGGCAGTTCATTGAGCCTCTCATTCGAGAGTTTTGCTAAGTTTTGTCTCT 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Task1_train_5423 | Given this variant in gene FN1 (fibronectin 1) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Glomerulopathy with fibronectin deposits 2 | TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTCCATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAAACTGAGCCAGTAAGAGATTGAGTGCTACACAAAACTTTGCCAAAACTCTGCCAGTCATGAGAAATTGTGGAACCATTTTGCTTGACTGTGATCCTTTGGGAAGTCTAATTTTCCAGCAAGACTTTCGCATCAGTCTCAGAAATTATAGTTACATTAAAGCAATGGTATTTTTAAAAAGGCAAAACAAACACTTCTGAAGTTCACAGTTAGCTCTGAGCCAAACAGATTAAGGAAAAAGGGATATGCCTCCTAAAATGACAGCAAGAAGAAGCTCTCTATGGGTCAAAAGCAATATTCTGTGAATAGCCCTTTGCTAGAGAAATAAAAGTTATTTTCACATGGTTCAGATTAGACAGTAATTACAGTAATGATAACGTATCCTCAGATTCATGGTAGGATACTGGTGAGTTTGCACTATCAGAATCACATAAGTTGTGGAGTTTATTCTTGAGAATAATAACCAGCAGTTTTCCCACCGAAATTTAAATTACCTTTCAAATAGAGGAAATCTTTAAGAGGCAGTCGAGTATAATAATTGAGAGCATGGGCTTCGGACATAGGTTATAGAGCCAGCTCTATCCCTTCCTATCTCTGTGACCCTACAAGTTGCAGAACTTTTTTAAAGCCTCAGTTTCTTTAAGTATTCAATACGGATACTAGTAAGACCTTCCGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTTCAGACCAGCTTGGCCAACACAGCGAAACCCATTTCTACTAAAAACACAAAAATTAGCAGGGCATGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGTGGTAGAGGTTCCAGTGAGCTGAGATGGTGCCACTGTACTCCAGCCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAAATAATAATAATAAGACCTTCCTTCCTAAGGTCAAAACAAAGAGTAAATATGAGAATAATGCTTGTAAAAACTGAGCAGATAAGCTGGTGGCTAGTAATACTAGACACTTGACAATTGCTATTGTTAAATGAATTCTACTCTAAGTGTTATGATCCTGCATTTTAACTTTGATCTAGATATATTTAGTTACACGAAAAATGCACTCAAATTAGATTCTCTTCAGTTCTCCCCTCTTAGTACCCTTCAGCTGGTACATGTATTTTAGAAATGGGTTACCACTTAGCATCCATGGAGCTTGTCTGAGTTTTGTTTTCAAGTTTAATGTGCTTTGTGTTCACTATGCATTCCCTTGCCGGCTGGGTATTTCCCTCTCTCTAAGCCATACACCTCTGAGTGAATGGTTTACTGCACTTTCTCACAGGCTGCAAGTGAGGGTGGAGAATTTGGAGGGGAGATAGAGATAGGAGAAGACATACTGGTTGTCTGTTGAGCAGTCAGAGGCTTGCTCTCCCTCCCATGGCTCACTGCAAAGACTTTGAAGTAATAGGTGACCCCAGGGGACAGCCCGGTGACTTCTGCAAAGGTGTTCCTGCTGATGGGCAGCCTCTGCCCGTGCTCGCCAGGCAGGTTGACGGGGATCACATCCACACGGTAGCCGGTCACTGCACTCTCAGGCGGTGTCCACATGATGGTGACCTTCACGTCTGTCACTTCCACAAACTGCAGGTCCCTGGGAGAGGGCACTGTATCTGACAGACAAGAGTCAACTGGTCATTCACATTCTCTGCTGAAGATTACTTTTAAGAAGCCAGTTTCTTGGATATGTTAGGCAGTTCATTGAGCCTCTCATTCGAGAGTTTTGCTAAGTTTTGTCTCTTAATCAGATCACATTTTCATGGTCCAGTCATAGTGCTTAAATTATGACATTTGAACCTTTTATCTAAAATAGGTAATAAGTGAGTTACCAGCATATGAAGTGTCATATGGTGGTGGGGGGAGAGGGTTATAAGAAAAGATACTAAAAAATTTTTTAGAAAAAGCCTTTGAAATAACTGCAGAAAATAATGTAACAGTTTTTGTTTTACTGAATCATTTTATAATACTTAAGAATCAAAAATGAAATGACCCTTAAGCTTCTAGGGGAAAATTTGTAGATGGACGTTATGGTGTCAGTTTTTAATCAGAAAGGCCAGTAGCCAGCTTTGATAAGTTACTTATGACATTTCAGCTAAATATCAGAAGTTTAGGGAAAAACTAATATATAAGATTTCTTGAATGAGAGGACTGTTGACAGAGACAAAACAACCCTCCTTCAGGAACAATCCTGATAAGATAACATAGGAAGTGTCTTCTTAAAAAAGTTACCTGAGCGTGGGGTGCCAGTGGTTTCTTGTTGAATGACAACAGGTGTACTTTCTTGATTTTCTTCCACAGCATAGATAGTGATGTTATACTGAACACCAGGTTGCAAGTCACTGAGGGTGACGGAGTTTGCAGTTTCAGGAAGGTTGAGTTCTGTGCTGCTACCTTCTACTGATGGCGAATAGACTATTCTGTACCCTGCAGATTCATGAGCAAAAGTAAGATGCACTGTTTTCTTTGAGACAGAGGCTTAGAAACACCATAAATCCTCCCTTTTCTAATATCCCTTAGCATCTTGCTTGATTAGTGAAGAGCCAGTGATACTTTTTGACTCTTTGAATATTGCCACTTCTTCTAATAATGACTATTCAGCACGAAGATAAAATAAGAACAGTCATGCGAACCTTTTTAATAATAAATGTCATCCTTGAAGACCTGACATCCTTAATAAATGTCAATTAGAGATGCCATTAGGTGAAAATATTCATGTTAAGCTGATTTTTCCTCTTTGAGCTCCAGACGAGGGAAGCAATTAATGAACCAGCCTAAGCAGAGTTGTCTAGCACTGTGTGTGTCTTTTTGGAACTTCAGTGATGAGGCAGTTGAATCACCTAATGAGCTAAGACGACAGCTCAGCTTTCTCCTTAAGGATAAATCTTAGAGCAACGTTTTCAGGAAATTACACCTCTTCAACCCTGGGAACACTTGCTTTAATAAGCCAATGAGCTGGCTTTACAGGTTGTGTGTATGTTGTGGTGTGTGTGTATAAGGGAGTTGGTGAAATGGTTTCAAGGGGAAATGTGCCATAGAAAATAACTCCCCCACCCCCGCCACACACACACACACACACACACACAAACCCCTCTCCCATAAATTATATTGGAGATTTAAAGTGATATGCAGGTCCGCAGTCAGAATCTGCGCCCTCCCTGCTGATGTCATTAAGATTAACATAGCAGCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGA 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TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTCCATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAAACTGAGCCAGTAAGAGATTGAGTGCTACACAAAACTTTGCCAAAACTCTGCCAGTCATGAGAAATTGTGGAACCATTTTGCTTGACTGTGATCCTTTGGGAAGTCTAATTTTCCAGCAAGACTTTCGCATCAGTCTCAGAAATTATAGTTACATTAAAGCAATGGTATTTTTAAAAAGGCAAAACAAACACTTCTGAAGTTCACAGTTAGCTCTGAGCCAAACAGATTAAGGAAAAAGGGATATGCCTCCTAAAATGACAGCAAGAAGAAGCTCTCTATGGGTCAAAAGCAATATTCTGTGAATAGCCCTTTGCTAGAGAAATAAAAGTTATTTTCACATGGTTCAGATTAGACAGTAATTACAGTAATGATAACGTATCCTCAGATTCATGGTAGGATACTGGTGAGTTTGCACTATCAGAATCACATAAGTTGTGGAGTTTATTCTTGAGAATAATAACCAGCAGTTTTCCCACCGAAATTTAAATTACCTTTCAAATAGAGGAAATCTTTAAGAGGCAGTCGAGTATAATAATTGAGAGCATGGGCTTCGGACATAGGTTATAGAGCCAGCTCTATCCCTTCCTATCTCTGTGACCCTACAAGTTGCAGAACTTTTTTAAAGCCTCAGTTTCTTTAAGTATTCAATACGGATACTAGTAAGACCTTCCGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTTCAGACCAGCTTGGCCAACACAGCGAAACCCATTTCTACTAAAAACACAAAAATTAGCAGGGCATGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGTGGTAGAGGTTCCAGTGAGCTGAGATGGTGCCACTGTACTCCAGCCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAAATAATAATAATAAGACCTTCCTTCCTAAGGTCAAAACAAAGAGTAAATATGAGAATAATGCTTGTAAAAACTGAGCAGATAAGCTGGTGGCTAGTAATACTAGACACTTGACAATTGCTATTGTTAAATGAATTCTACTCTAAGTGTTATGATCCTGCATTTTAACTTTGATCTAGATATATTTAGTTACACGAAAAATGCACTCAAATTAGATTCTCTTCAGTTCTCCCCTCTTAGTACCCTTCAGCTGGTACATGTATTTTAGAAATGGGTTACCACTTAGCATCCATGGAGCTTGTCTGAGTTTTGTTTTCAAGTTTAATGTGCTTTGTGTTCACTATGCATTCCCTTGCCGGCTGGGTATTTCCCTCTCTCTAAGCCATACACCTCTGAGTGAATGGTTTACTGCACTTTCTCACAGGCTGCAAGTGAGGGTGGAGAATTTGGAGGGGAGATAGAGATAGGAGAAGACATACTGGTTGTCTGTTGAGCAGTCAGAGGCTTGCTCTCCCTCCCATGGCTCACTGCAAAGACTTTGAAGTAACAGGTGACCCCAGGGGACAGCCCGGTGACTTCTGCAAAGGTGTTCCTGCTGATGGGCAGCCTCTGCCCGTGCTCGCCAGGCAGGTTGACGGGGATCACATCCACACGGTAGCCGGTCACTGCACTCTCAGGCGGTGTCCACATGATGGTGACCTTCACGTCTGTCACTTCCACAAACTGCAGGTCCCTGGGAGAGGGCACTGTATCTGACAGACAAGAGTCAACTGGTCATTCACATTCTCTGCTGAAGATTACTTTTAAGAAGCCAGTTTCTTGGATATGTTAGGCAGTTCATTGAGCCTCTCATTCGAGAGTTTTGCTAAGTTTTGTCTCTTAATCAGATCACATTTTCATGGTCCAGTCATAGTGCTTAAATTATGACATTTGAACCTTTTATCTAAAATAGGTAATAAGTGAGTTACCAGCATATGAAGTGTCATATGGTGGTGGGGGGAGAGGGTTATAAGAAAAGATACTAAAAAATTTTTTAGAAAAAGCCTTTGAAATAACTGCAGAAAATAATGTAACAGTTTTTGTTTTACTGAATCATTTTATAATACTTAAGAATCAAAAATGAAATGACCCTTAAGCTTCTAGGGGAAAATTTGTAGATGGACGTTATGGTGTCAGTTTTTAATCAGAAAGGCCAGTAGCCAGCTTTGATAAGTTACTTATGACATTTCAGCTAAATATCAGAAGTTTAGGGAAAAACTAATATATAAGATTTCTTGAATGAGAGGACTGTTGACAGAGACAAAACAACCCTCCTTCAGGAACAATCCTGATAAGATAACATAGGAAGTGTCTTCTTAAAAAAGTTACCTGAGCGTGGGGTGCCAGTGGTTTCTTGTTGAATGACAACAGGTGTACTTTCTTGATTTTCTTCCACAGCATAGATAGTGATGTTATACTGAACACCAGGTTGCAAGTCACTGAGGGTGACGGAGTTTGCAGTTTCAGGAAGGTTGAGTTCTGTGCTGCTACCTTCTACTGATGGCGAATAGACTATTCTGTACCCTGCAGATTCATGAGCAAAAGTAAGATGCACTGTTTTCTTTGAGACAGAGGCTTAGAAACACCATAAATCCTCCCTTTTCTAATATCCCTTAGCATCTTGCTTGATTAGTGAAGAGCCAGTGATACTTTTTGACTCTTTGAATATTGCCACTTCTTCTAATAATGACTATTCAGCACGAAGATAAAATAAGAACAGTCATGCGAACCTTTTTAATAATAAATGTCATCCTTGAAGACCTGACATCCTTAATAAATGTCAATTAGAGATGCCATTAGGTGAAAATATTCATGTTAAGCTGATTTTTCCTCTTTGAGCTCCAGACGAGGGAAGCAATTAATGAACCAGCCTAAGCAGAGTTGTCTAGCACTGTGTGTGTCTTTTTGGAACTTCAGTGATGAGGCAGTTGAATCACCTAATGAGCTAAGACGACAGCTCAGCTTTCTCCTTAAGGATAAATCTTAGAGCAACGTTTTCAGGAAATTACACCTCTTCAACCCTGGGAACACTTGCTTTAATAAGCCAATGAGCTGGCTTTACAGGTTGTGTGTATGTTGTGGTGTGTGTGTATAAGGGAGTTGGTGAAATGGTTTCAAGGGGAAATGTGCCATAGAAAATAACTCCCCCACCCCCGCCACACACACACACACACACACACACAAACCCCTCTCCCATAAATTATATTGGAGATTTAAAGTGATATGCAGGTCCGCAGTCAGAATCTGCGCCCTCCCTGCTGATGTCATTAAGATTAACATAGCAGCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGA 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Task1_train_5424 | With a mutation on Chromosome 2 in gene FN1 (fibronectin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Spondylometaphyseal dysplasia - Sutcliffe type | TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTCCATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAAACTGAGCCAGTAAGAGATTGAGTGCTACACAAAACTTTGCCAAAACTCTGCCAGTCATGAGAAATTGTGGAACCATTTTGCTTGACTGTGATCCTTTGGGAAGTCTAATTTTCCAGCAAGACTTTCGCATCAGTCTCAGAAATTATAGTTACATTAAAGCAATGGTATTTTTAAAAAGGCAAAACAAACACTTCTGAAGTTCACAGTTAGCTCTGAGCCAAACAGATTAAGGAAAAAGGGATATGCCTCCTAAAATGACAGCAAGAAGAAGCTCTCTATGGGTCAAAAGCAATATTCTGTGAATAGCCCTTTGCTAGAGAAATAAAAGTTATTTTCACATGGTTCAGATTAGACAGTAATTACAGTAATGATAACGTATCCTCAGATTCATGGTAGGATACTGGTGAGTTTGCACTATCAGAATCACATAAGTTGTGGAGTTTATTCTTGAGAATAATAACCAGCAGTTTTCCCACCGAAATTTAAATTACCTTTCAAATAGAGGAAATCTTTAAGAGGCAGTCGAGTATAATAATTGAGAGCATGGGCTTCGGACATAGGTTATAGAGCCAGCTCTATCCCTTCCTATCTCTGTGACCCTACAAGTTGCAGAACTTTTTTAAAGCCTCAGTTTCTTTAAGTATTCAATACGGATACTAGTAAGACCTTCCGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTTCAGACCAGCTTGGCCAACACAGCGAAACCCATTTCTACTAAAAACACAAAAATTAGCAGGGCATGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGTGGTAGAGGTTCCAGTGAGCTGAGATGGTGCCACTGTACTCCAGCCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAAATAATAATAATAAGACCTTCCTTCCTAAGGTCAAAACAAAGAGTAAATATGAGAATAATGCTTGTAAAAACTGAGCAGATAAGCTGGTGGCTAGTAATACTAGACACTTGACAATTGCTATTGTTAAATGAATTCTACTCTAAGTGTTATGATCCTGCATTTTAACTTTGATCTAGATATATTTAGTTACACGAAAAATGCACTCAAATTAGATTCTCTTCAGTTCTCCCCTCTTAGTACCCTTCAGCTGGTACATGTATTTTAGAAATGGGTTACCACTTAGCATCCATGGAGCTTGTCTGAGTTTTGTTTTCAAGTTTAATGTGCTTTGTGTTCACTATGCATTCCCTTGCCGGCTGGGTATTTCCCTCTCTCTAAGCCATACACCTCTGAGTGAATGGTTTACTGCACTTTCTCACAGGCTGCAAGTGAGGGTGGAGAATTTGGAGGGGAGATAGAGATAGGAGAAGACATACTGGTTGTCTGTTGAGCAGTCAGAGGCTTGCTCTCCCTCCCATGGCTCACTGCAAAGACTTTGAAGTAATAGGTGACCCCAGGGGACAGCCCGGTGACTTCTGCAAAGGTGTTCCTGCTGATGGGCAGCCTCTGCCCGTGCTCGCCAGGCAGGTTGACGGGGATCACATCCACACGGTAGCCGGTCACTGCACTCTCAGGCGGTGTCCACATGATGGTGACCTTCACGTCTGTCACTTCCACAAACTGCAGGTCCCTGGGAGAGGGCACTGTATCTGACAGACAAGAGTCAACTGGTCATTCACATTCTCTGCTGAAGATTACTTTTAAGAAGCCAGTTTCTTGGATATGTTAGGCAGTTCATTGAGCCTCTCATTCGAGAGTTTTGCTAAGTTTTGTCTCTTAATCAGATCACATTTTCATGGTCCAGTCATAGTGCTTAAATTATGACATTTGAACCTTTTATCTAAAATAGGTAATAAGTGAGTTACCAGCATATGAAGTGTCATATGGTGGTGGGGGGAGAGGGTTATAAGAAAAGATACTAAAAAATTTTTTAGAAAAAGCCTTTGAAATAACTGCAGAAAATAATGTAACAGTTTTTGTTTTACTGAATCATTTTATAATACTTAAGAATCAAAAATGAAATGACCCTTAAGCTTCTAGGGGAAAATTTGTAGATGGACGTTATGGTGTCAGTTTTTAATCAGAAAGGCCAGTAGCCAGCTTTGATAAGTTACTTATGACATTTCAGCTAAATATCAGAAGTTTAGGGAAAAACTAATATATAAGATTTCTTGAATGAGAGGACTGTTGACAGAGACAAAACAACCCTCCTTCAGGAACAATCCTGATAAGATAACATAGGAAGTGTCTTCTTAAAAAAGTTACCTGAGCGTGGGGTGCCAGTGGTTTCTTGTTGAATGACAACAGGTGTACTTTCTTGATTTTCTTCCACAGCATAGATAGTGATGTTATACTGAACACCAGGTTGCAAGTCACTGAGGGTGACGGAGTTTGCAGTTTCAGGAAGGTTGAGTTCTGTGCTGCTACCTTCTACTGATGGCGAATAGACTATTCTGTACCCTGCAGATTCATGAGCAAAAGTAAGATGCACTGTTTTCTTTGAGACAGAGGCTTAGAAACACCATAAATCCTCCCTTTTCTAATATCCCTTAGCATCTTGCTTGATTAGTGAAGAGCCAGTGATACTTTTTGACTCTTTGAATATTGCCACTTCTTCTAATAATGACTATTCAGCACGAAGATAAAATAAGAACAGTCATGCGAACCTTTTTAATAATAAATGTCATCCTTGAAGACCTGACATCCTTAATAAATGTCAATTAGAGATGCCATTAGGTGAAAATATTCATGTTAAGCTGATTTTTCCTCTTTGAGCTCCAGACGAGGGAAGCAATTAATGAACCAGCCTAAGCAGAGTTGTCTAGCACTGTGTGTGTCTTTTTGGAACTTCAGTGATGAGGCAGTTGAATCACCTAATGAGCTAAGACGACAGCTCAGCTTTCTCCTTAAGGATAAATCTTAGAGCAACGTTTTCAGGAAATTACACCTCTTCAACCCTGGGAACACTTGCTTTAATAAGCCAATGAGCTGGCTTTACAGGTTGTGTGTATGTTGTGGTGTGTGTGTATAAGGGAGTTGGTGAAATGGTTTCAAGGGGAAATGTGCCATAGAAAATAACTCCCCCACCCCCGCCACACACACACACACACACACACACAAACCCCTCTCCCATAAATTATATTGGAGATTTAAAGTGATATGCAGGTCCGCAGTCAGAATCTGCGCCCTCCCTGCTGATGTCATTAAGATTAACATAGCAGCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGA 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TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTCCATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAAACTGAGCCAGTAAGAGATTGAGTGCTACACAAAACTTTGCCAAAACTCTGCCAGTCATGAGAAATTGTGGAACCATTTTGCTTGACTGTGATCCTTTGGGAAGTCTAATTTTCCAGCAAGACTTTCGCATCAGTCTCAGAAATTATAGTTACATTAAAGCAATGGTATTTTTAAAAAGGCAAAACAAACACTTCTGAAGTTCACAGTTAGCTCTGAGCCAAACAGATTAAGGAAAAAGGGATATGCCTCCTAAAATGACAGCAAGAAGAAGCTCTCTATGGGTCAAAAGCAATATTCTGTGAATAGCCCTTTGCTAGAGAAATAAAAGTTATTTTCACATGGTTCAGATTAGACAGTAATTACAGTAATGATAACGTATCCTCAGATTCATGGTAGGATACTGGTGAGTTTGCACTATCAGAATCACATAAGTTGTGGAGTTTATTCTTGAGAATAATAACCAGCAGTTTTCCCACCGAAATTTAAATTACCTTTCAAATAGAGGAAATCTTTAAGAGGCAGTCGAGTATAATAATTGAGAGCATGGGCTTCGGACATAGGTTATAGAGCCAGCTCTATCCCTTCCTATCTCTGTGACCCTACAAGTTGCAGAACTTTTTTAAAGCCTCAGTTTCTTTAAGTATTCAATACGGATACTAGTAAGACCTTCCGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTTCAGACCAGCTTGGCCAACACAGCGAAACCCATTTCTACTAAAAACACAAAAATTAGCAGGGCATGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGTGGTAGAGGTTCCAGTGAGCTGAGATGGTGCCACTGTACTCCAGCCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAAATAATAATAATAAGACCTTCCTTCCTAAGGTCAAAACAAAGAGTAAATATGAGAATAATGCTTGTAAAAACTGAGCAGATAAGCTGGTGGCTAGTAATACTAGACACTTGACAATTGCTATTGTTAAATGAATTCTACTCTAAGTGTTATGATCCTGCATTTTAACTTTGATCTAGATATATTTAGTTACACGAAAAATGCACTCAAATTAGATTCTCTTCAGTTCTCCCCTCTTAGTACCCTTCAGCTGGTACATGTATTTTAGAAATGGGTTACCACTTAGCATCCATGGAGCTTGTCTGAGTTTTGTTTTCAAGTTTAATGTGCTTTGTGTTCACTATGCATTCCCTTGCCGGCTGGGTATTTCCCTCTCTCTAAGCCATACACCTCTGAGTGAATGGTTTACTGCACTTTCTCACAGGCTGCAAGTGAGGGTGGAGAATTTGGAGGGGAGATAGAGATAGGAGAAGACATACTGGTTGTCTGTTGAGCAGTCAGAGGCTTGCTCTCCCTCCCATGGCTCACTGCAAAGACTTTGAAGTAACAGGTGACCCCAGGGGACAGCCCGGTGACTTCTGCAAAGGTGTTCCTGCTGATGGGCAGCCTCTGCCCGTGCTCGCCAGGCAGGTTGACGGGGATCACATCCACACGGTAGCCGGTCACTGCACTCTCAGGCGGTGTCCACATGATGGTGACCTTCACGTCTGTCACTTCCACAAACTGCAGGTCCCTGGGAGAGGGCACTGTATCTGACAGACAAGAGTCAACTGGTCATTCACATTCTCTGCTGAAGATTACTTTTAAGAAGCCAGTTTCTTGGATATGTTAGGCAGTTCATTGAGCCTCTCATTCGAGAGTTTTGCTAAGTTTTGTCTCTTAATCAGATCACATTTTCATGGTCCAGTCATAGTGCTTAAATTATGACATTTGAACCTTTTATCTAAAATAGGTAATAAGTGAGTTACCAGCATATGAAGTGTCATATGGTGGTGGGGGGAGAGGGTTATAAGAAAAGATACTAAAAAATTTTTTAGAAAAAGCCTTTGAAATAACTGCAGAAAATAATGTAACAGTTTTTGTTTTACTGAATCATTTTATAATACTTAAGAATCAAAAATGAAATGACCCTTAAGCTTCTAGGGGAAAATTTGTAGATGGACGTTATGGTGTCAGTTTTTAATCAGAAAGGCCAGTAGCCAGCTTTGATAAGTTACTTATGACATTTCAGCTAAATATCAGAAGTTTAGGGAAAAACTAATATATAAGATTTCTTGAATGAGAGGACTGTTGACAGAGACAAAACAACCCTCCTTCAGGAACAATCCTGATAAGATAACATAGGAAGTGTCTTCTTAAAAAAGTTACCTGAGCGTGGGGTGCCAGTGGTTTCTTGTTGAATGACAACAGGTGTACTTTCTTGATTTTCTTCCACAGCATAGATAGTGATGTTATACTGAACACCAGGTTGCAAGTCACTGAGGGTGACGGAGTTTGCAGTTTCAGGAAGGTTGAGTTCTGTGCTGCTACCTTCTACTGATGGCGAATAGACTATTCTGTACCCTGCAGATTCATGAGCAAAAGTAAGATGCACTGTTTTCTTTGAGACAGAGGCTTAGAAACACCATAAATCCTCCCTTTTCTAATATCCCTTAGCATCTTGCTTGATTAGTGAAGAGCCAGTGATACTTTTTGACTCTTTGAATATTGCCACTTCTTCTAATAATGACTATTCAGCACGAAGATAAAATAAGAACAGTCATGCGAACCTTTTTAATAATAAATGTCATCCTTGAAGACCTGACATCCTTAATAAATGTCAATTAGAGATGCCATTAGGTGAAAATATTCATGTTAAGCTGATTTTTCCTCTTTGAGCTCCAGACGAGGGAAGCAATTAATGAACCAGCCTAAGCAGAGTTGTCTAGCACTGTGTGTGTCTTTTTGGAACTTCAGTGATGAGGCAGTTGAATCACCTAATGAGCTAAGACGACAGCTCAGCTTTCTCCTTAAGGATAAATCTTAGAGCAACGTTTTCAGGAAATTACACCTCTTCAACCCTGGGAACACTTGCTTTAATAAGCCAATGAGCTGGCTTTACAGGTTGTGTGTATGTTGTGGTGTGTGTGTATAAGGGAGTTGGTGAAATGGTTTCAAGGGGAAATGTGCCATAGAAAATAACTCCCCCACCCCCGCCACACACACACACACACACACACACAAACCCCTCTCCCATAAATTATATTGGAGATTTAAAGTGATATGCAGGTCCGCAGTCAGAATCTGCGCCCTCCCTGCTGATGTCATTAAGATTAACATAGCAGCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGA 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Task1_train_5425 | Given this context: Chromosome 2, gene FN1 (fibronectin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Glomerulopathy with fibronectin deposits 2 | TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTCCATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAAACTGAGCCAGTAAGAGATTGAGTGCTACACAAAACTTTGCCAAAACTCTGCCAGTCATGAGAAATTGTGGAACCATTTTGCTTGACTGTGATCCTTTGGGAAGTCTAATTTTCCAGCAAGACTTTCGCATCAGTCTCAGAAATTATAGTTACATTAAAGCAATGGTATTTTTAAAAAGGCAAAACAAACACTTCTGAAGTTCACAGTTAGCTCTGAGCCAAACAGATTAAGGAAAAAGGGATATGCCTCCTAAAATGACAGCAAGAAGAAGCTCTCTATGGGTCAAAAGCAATATTCTGTGAATAGCCCTTTGCTAGAGAAATAAAAGTTATTTTCACATGGTTCAGATTAGACAGTAATTACAGTAATGATAACGTATCCTCAGATTCATGGTAGGATACTGGTGAGTTTGCACTATCAGAATCACATAAGTTGTGGAGTTTATTCTTGAGAATAATAACCAGCAGTTTTCCCACCGAAATTTAAATTACCTTTCAAATAGAGGAAATCTTTAAGAGGCAGTCGAGTATAATAATTGAGAGCATGGGCTTCGGACATAGGTTATAGAGCCAGCTCTATCCCTTCCTATCTCTGTGACCCTACAAGTTGCAGAACTTTTTTAAAGCCTCAGTTTCTTTAAGTATTCAATACGGATACTAGTAAGACCTTCCGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTTCAGACCAGCTTGGCCAACACAGCGAAACCCATTTCTACTAAAAACACAAAAATTAGCAGGGCATGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGTGGTAGAGGTTCCAGTGAGCTGAGATGGTGCCACTGTACTCCAGCCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAAATAATAATAATAAGACCTTCCTTCCTAAGGTCAAAACAAAGAGTAAATATGAGAATAATGCTTGTAAAAACTGAGCAGATAAGCTGGTGGCTAGTAATACTAGACACTTGACAATTGCTATTGTTAAATGAATTCTACTCTAAGTGTTATGATCCTGCATTTTAACTTTGATCTAGATATATTTAGTTACACGAAAAATGCACTCAAATTAGATTCTCTTCAGTTCTCCCCTCTTAGTACCCTTCAGCTGGTACATGTATTTTAGAAATGGGTTACCACTTAGCATCCATGGAGCTTGTCTGAGTTTTGTTTTCAAGTTTAATGTGCTTTGTGTTCACTATGCATTCCCTTGCCGGCTGGGTATTTCCCTCTCTCTAAGCCATACACCTCTGAGTGAATGGTTTACTGCACTTTCTCACAGGCTGCAAGTGAGGGTGGAGAATTTGGAGGGGAGATAGAGATAGGAGAAGACATACTGGTTGTCTGTTGAGCAGTCAGAGGCTTGCTCTCCCTCCCATGGCTCACTGCAAAGACTTTGAAGTAATAGGTGACCCCAGGGGACAGCCCGGTGACTTCTGCAAAGGTGTTCCTGCTGATGGGCAGCCTCTGCCCGTGCTCGCCAGGCAGGTTGACGGGGATCACATCCACACGGTAGCCGGTCACTGCACTCTCAGGCGGTGTCCACATGATGGTGACCTTCACGTCTGTCACTTCCACAAACTGCAGGTCCCTGGGAGAGGGCACTGTATCTGACAGACAAGAGTCAACTGGTCATTCACATTCTCTGCTGAAGATTACTTTTAAGAAGCCAGTTTCTTGGATATGTTAGGCAGTTCATTGAGCCTCTCATTCGAGAGTTTTGCTAAGTTTTGTCTCTTAATCAGATCACATTTTCATGGTCCAGTCATAGTGCTTAAATTATGACATTTGAACCTTTTATCTAAAATAGGTAATAAGTGAGTTACCAGCATATGAAGTGTCATATGGTGGTGGGGGGAGAGGGTTATAAGAAAAGATACTAAAAAATTTTTTAGAAAAAGCCTTTGAAATAACTGCAGAAAATAATGTAACAGTTTTTGTTTTACTGAATCATTTTATAATACTTAAGAATCAAAAATGAAATGACCCTTAAGCTTCTAGGGGAAAATTTGTAGATGGACGTTATGGTGTCAGTTTTTAATCAGAAAGGCCAGTAGCCAGCTTTGATAAGTTACTTATGACATTTCAGCTAAATATCAGAAGTTTAGGGAAAAACTAATATATAAGATTTCTTGAATGAGAGGACTGTTGACAGAGACAAAACAACCCTCCTTCAGGAACAATCCTGATAAGATAACATAGGAAGTGTCTTCTTAAAAAAGTTACCTGAGCGTGGGGTGCCAGTGGTTTCTTGTTGAATGACAACAGGTGTACTTTCTTGATTTTCTTCCACAGCATAGATAGTGATGTTATACTGAACACCAGGTTGCAAGTCACTGAGGGTGACGGAGTTTGCAGTTTCAGGAAGGTTGAGTTCTGTGCTGCTACCTTCTACTGATGGCGAATAGACTATTCTGTACCCTGCAGATTCATGAGCAAAAGTAAGATGCACTGTTTTCTTTGAGACAGAGGCTTAGAAACACCATAAATCCTCCCTTTTCTAATATCCCTTAGCATCTTGCTTGATTAGTGAAGAGCCAGTGATACTTTTTGACTCTTTGAATATTGCCACTTCTTCTAATAATGACTATTCAGCACGAAGATAAAATAAGAACAGTCATGCGAACCTTTTTAATAATAAATGTCATCCTTGAAGACCTGACATCCTTAATAAATGTCAATTAGAGATGCCATTAGGTGAAAATATTCATGTTAAGCTGATTTTTCCTCTTTGAGCTCCAGACGAGGGAAGCAATTAATGAACCAGCCTAAGCAGAGTTGTCTAGCACTGTGTGTGTCTTTTTGGAACTTCAGTGATGAGGCAGTTGAATCACCTAATGAGCTAAGACGACAGCTCAGCTTTCTCCTTAAGGATAAATCTTAGAGCAACGTTTTCAGGAAATTACACCTCTTCAACCCTGGGAACACTTGCTTTAATAAGCCAATGAGCTGGCTTTACAGGTTGTGTGTATGTTGTGGTGTGTGTGTATAAGGGAGTTGGTGAAATGGTTTCAAGGGGAAATGTGCCATAGAAAATAACTCCCCCACCCCCGCCACACACACACACACACACACACACAAACCCCTCTCCCATAAATTATATTGGAGATTTAAAGTGATATGCAGGTCCGCAGTCAGAATCTGCGCCCTCCCTGCTGATGTCATTAAGATTAACATAGCAGCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGA 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TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTCCATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAAACTGAGCCAGTAAGAGATTGAGTGCTACACAAAACTTTGCCAAAACTCTGCCAGTCATGAGAAATTGTGGAACCATTTTGCTTGACTGTGATCCTTTGGGAAGTCTAATTTTCCAGCAAGACTTTCGCATCAGTCTCAGAAATTATAGTTACATTAAAGCAATGGTATTTTTAAAAAGGCAAAACAAACACTTCTGAAGTTCACAGTTAGCTCTGAGCCAAACAGATTAAGGAAAAAGGGATATGCCTCCTAAAATGACAGCAAGAAGAAGCTCTCTATGGGTCAAAAGCAATATTCTGTGAATAGCCCTTTGCTAGAGAAATAAAAGTTATTTTCACATGGTTCAGATTAGACAGTAATTACAGTAATGATAACGTATCCTCAGATTCATGGTAGGATACTGGTGAGTTTGCACTATCAGAATCACATAAGTTGTGGAGTTTATTCTTGAGAATAATAACCAGCAGTTTTCCCACCGAAATTTAAATTACCTTTCAAATAGAGGAAATCTTTAAGAGGCAGTCGAGTATAATAATTGAGAGCATGGGCTTCGGACATAGGTTATAGAGCCAGCTCTATCCCTTCCTATCTCTGTGACCCTACAAGTTGCAGAACTTTTTTAAAGCCTCAGTTTCTTTAAGTATTCAATACGGATACTAGTAAGACCTTCCGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTTCAGACCAGCTTGGCCAACACAGCGAAACCCATTTCTACTAAAAACACAAAAATTAGCAGGGCATGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGTGGTAGAGGTTCCAGTGAGCTGAGATGGTGCCACTGTACTCCAGCCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAAATAATAATAATAAGACCTTCCTTCCTAAGGTCAAAACAAAGAGTAAATATGAGAATAATGCTTGTAAAAACTGAGCAGATAAGCTGGTGGCTAGTAATACTAGACACTTGACAATTGCTATTGTTAAATGAATTCTACTCTAAGTGTTATGATCCTGCATTTTAACTTTGATCTAGATATATTTAGTTACACGAAAAATGCACTCAAATTAGATTCTCTTCAGTTCTCCCCTCTTAGTACCCTTCAGCTGGTACATGTATTTTAGAAATGGGTTACCACTTAGCATCCATGGAGCTTGTCTGAGTTTTGTTTTCAAGTTTAATGTGCTTTGTGTTCACTATGCATTCCCTTGCCGGCTGGGTATTTCCCTCTCTCTAAGCCATACACCTCTGAGTGAATGGTTTACTGCACTTTCTCACAGGCTGCAAGTGAGGGTGGAGAATTTGGAGGGGAGATAGAGATAGGAGAAGACATACTGGTTGTCTGTTGAGCAGTCAGAGGCTTGCTCTCCCTCCCATGGCTCACTGCAAAGACTTTGAAGTAACAGGTGACCCCAGGGGACAGCCCGGTGACTTCTGCAAAGGTGTTCCTGCTGATGGGCAGCCTCTGCCCGTGCTCGCCAGGCAGGTTGACGGGGATCACATCCACACGGTAGCCGGTCACTGCACTCTCAGGCGGTGTCCACATGATGGTGACCTTCACGTCTGTCACTTCCACAAACTGCAGGTCCCTGGGAGAGGGCACTGTATCTGACAGACAAGAGTCAACTGGTCATTCACATTCTCTGCTGAAGATTACTTTTAAGAAGCCAGTTTCTTGGATATGTTAGGCAGTTCATTGAGCCTCTCATTCGAGAGTTTTGCTAAGTTTTGTCTCTTAATCAGATCACATTTTCATGGTCCAGTCATAGTGCTTAAATTATGACATTTGAACCTTTTATCTAAAATAGGTAATAAGTGAGTTACCAGCATATGAAGTGTCATATGGTGGTGGGGGGAGAGGGTTATAAGAAAAGATACTAAAAAATTTTTTAGAAAAAGCCTTTGAAATAACTGCAGAAAATAATGTAACAGTTTTTGTTTTACTGAATCATTTTATAATACTTAAGAATCAAAAATGAAATGACCCTTAAGCTTCTAGGGGAAAATTTGTAGATGGACGTTATGGTGTCAGTTTTTAATCAGAAAGGCCAGTAGCCAGCTTTGATAAGTTACTTATGACATTTCAGCTAAATATCAGAAGTTTAGGGAAAAACTAATATATAAGATTTCTTGAATGAGAGGACTGTTGACAGAGACAAAACAACCCTCCTTCAGGAACAATCCTGATAAGATAACATAGGAAGTGTCTTCTTAAAAAAGTTACCTGAGCGTGGGGTGCCAGTGGTTTCTTGTTGAATGACAACAGGTGTACTTTCTTGATTTTCTTCCACAGCATAGATAGTGATGTTATACTGAACACCAGGTTGCAAGTCACTGAGGGTGACGGAGTTTGCAGTTTCAGGAAGGTTGAGTTCTGTGCTGCTACCTTCTACTGATGGCGAATAGACTATTCTGTACCCTGCAGATTCATGAGCAAAAGTAAGATGCACTGTTTTCTTTGAGACAGAGGCTTAGAAACACCATAAATCCTCCCTTTTCTAATATCCCTTAGCATCTTGCTTGATTAGTGAAGAGCCAGTGATACTTTTTGACTCTTTGAATATTGCCACTTCTTCTAATAATGACTATTCAGCACGAAGATAAAATAAGAACAGTCATGCGAACCTTTTTAATAATAAATGTCATCCTTGAAGACCTGACATCCTTAATAAATGTCAATTAGAGATGCCATTAGGTGAAAATATTCATGTTAAGCTGATTTTTCCTCTTTGAGCTCCAGACGAGGGAAGCAATTAATGAACCAGCCTAAGCAGAGTTGTCTAGCACTGTGTGTGTCTTTTTGGAACTTCAGTGATGAGGCAGTTGAATCACCTAATGAGCTAAGACGACAGCTCAGCTTTCTCCTTAAGGATAAATCTTAGAGCAACGTTTTCAGGAAATTACACCTCTTCAACCCTGGGAACACTTGCTTTAATAAGCCAATGAGCTGGCTTTACAGGTTGTGTGTATGTTGTGGTGTGTGTGTATAAGGGAGTTGGTGAAATGGTTTCAAGGGGAAATGTGCCATAGAAAATAACTCCCCCACCCCCGCCACACACACACACACACACACACACAAACCCCTCTCCCATAAATTATATTGGAGATTTAAAGTGATATGCAGGTCCGCAGTCAGAATCTGCGCCCTCCCTGCTGATGTCATTAAGATTAACATAGCAGCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGA 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Task1_train_5426 | Located on Chromosome 2, this mutation impacts FN1 (fibronectin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | GTCATCACTGTTTATGGCCTGCCTTTCAATAGGGACCTTGCTTTAGAAAACTAAAAACAGGCTAAGCGCGGTGGCTCACGCCTGTAATCCTAGTACTTTAGGAGGGTGGATCACCTGCAGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCCGTCTCTACTAAAAATACCAAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAATCCAAGCTACTCGGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAATGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCGACAGGGTGAGACTGTCTCAAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAGCAAACAAAAAAAAGCTTATAACAATGGGGAGGCAAGCAGGTATCAAAGGGTCTTCACCAATGGCTACAAAGAAGCTATAAGAAGGTGGTAGTATCTCTTTCTTCATTTGTTATGTAAAAAATGTAGAGGATGCACAATTTCTTTGACTAAAATATTATTTTCCCTTCCCCTATACCCAAACATCTACAGTATTTAAAAATCACTAGCAAAATAGCCCCAAATTATTCAGTGTTAGCCCTCCACTGGAAGAGTGGGATCAACATAAAATGATAATTTGTAACTAAATGACCATTAGTCTATGCGTGCATTTATCTGGTAAATAGATTATTTAAATTATAATCCAAATTTGCTCTGTGCCACGATGTGAGTATAGAGGATCTGATGTCTTTGTGAATTGGATATTGTTGCAACTCCTGGGTTAGAGAAAAAAAATTAATAGTTGATGTAGGTTCAAACAAATACACACCCACATCCATCTACCACAAGAATAGAAGTTTGCATGAAGGTATAATTACTGATTAGAGCTTTTTCCCAAATCCCCAGCGAAAAGTATTATCATCCCCTGAACCTCCATAGCACTACTTTCAGTATTTCTGTTGAAATCTTTAATACTGTGTTTTGCAGATGATAAATATGTATAAGACTTTCTCATCTCCCTGACCCCCTAAGTACTCTTTGAAGGCTGGGCTAATGTTCATTTCATATCTGCACCCCTATAATACCTTGAACAAAGTAAGTCCTTATAAAATTTTCTGGAATAAATGACTTCTCTTTGAGAAACTTTTCCCAACTTGCTATTTAAAGAGTTCTAAATAACAGATAAGGTTTGAATCAGACATCTAATTTGTCTTAAGCTAAAATATTGCCACAAAGATCTTGGAAGTCTGATGATCACAGTAACATTTTAAATGCAAAATATCTAATAAACCAGCAAGTTTCTGGGAAAGCTTTGGTCAAAATGGTTACCACTTTTCATGAGAGACCTATTTTTGTTAGCAAAGAATTTGAATTTGGATGATGGCTATGTTAAAGGTAGTTAAATGGGTTCAGCTAGATAAATAAAACAGGTTCAAATTATTTGGATTTGATTTTAAACTTATTTACAACACCAGTAGTTAATGGCTGTTTTACTTCAACAAACTCTCTAGCTGTTATTAGTTTACAATATCAAAAAAGGAGCCTTCAAACCCAAAGGCAACAATTAAGACCCCAAGACAATCTTAGAAGGAGCAGTAAAGACACCAGAGGCCAGCTTCTTTACAGCACTAATCAAATGCGTTAGGTCAGAGACACTATCCCTAACTCCAGAGTAGATAAATCATTTTAATTTATGGGATAAATTCTTTTTAATTTTATCAATTTAGCCTGTGAATGTGCCCTATTTAAATTTCAAACATAGAAGGAAACCTAAACCTTTTGTTCAACTCTATGTCAGTGGCAGTGAGCTGAGATTGAACCTTATCAAAGTGATATGTTTTTCTATTTATGTAGTCTTCTCTGAAGATGCGGAATAAGTTGGTTATGAAAGTTTTCTTGACTTCCAGAAGTTACCAAAGCATGCTGATATACTGGATGTGTTCTGAGTAACATAGTATTACCCTTCTCTCTAGGAATCCAGAAAACAATACCTGGCTTAATCTTTAACATAAAGATGTAAAACATACTTCTAGAAGTGCAAGTGATGCGTCCGCTGCCTTCTCCCAGGCAAGTACAATCTACCATCATCCAGCCTTGGTAGGGCTTCTCCCACGTTTCTCCGACCACATAGGAAGTCCCAGCAGCATGATCAAAACACTTCTCAGCTGTAGGGAAATTTGGAAGAAAAACAGGAAAAAAAGGTTATTTTGAATTGTGCAAGCTCCCTGTAATTTAAAGTGTAGTGTGTAAGCAAAAATTCAGCCACATTTTTTTTAAGTGGCACTCTGTTCAGAAAGAATGACACACCCAGCATCTAAGCACACAGTAAGTAGCCAAGGCAAAAGAAAGCTCAAGCTGAGTTGGCAGGCAGAAATTCCATTCTCCTAATAAGTACATGGACTACATATTTTCAGCGAGCCCCAAACTTCCCAGCAGCATTTCCAGTAGCAAGGATCTATGTATGTATCTAGTCTGTGGGAGACTACATATGCAAAATTCCAATCTTAATTATAAATGACCAATTATGAATTTTGAGTGGCCTAAATACAATGACAAAGAAAGCTATTTTTAAATATTGGAAAGCAAAACAATACAAAACAAGACAAAAACCTCTAAATTAGAAGACAAGTAAACAGAGTAAAATTTATAGCCAGAAACTTTCAGGCTTGTACTTACAAAATTCAACTGAGGATTGAGATCCAAAGAAGCTCAACAACTTTTAATTTGAAAAGAAATGAGCAGAGTGTGACAAGCACACACTATTTCATGTTTCGGTCCAGGACATTCCATATAGAAATGTGTCCAAAGTGTCATTTTTTTTTCTTTTAAATAAATTATATCTTGACGAAGGAGGAATCTGAGATCAGCTATTAGGTAAAAGAAATGACTCCATTCTAAATCTTTCAATTCTACCTTATGCTTTTGAAGCAAAGTTAAGACTTCTATGTGTAGTCAGTACTTTTTGATCTAACTCCTGTAAGAAGACTATGGATTATATAATAATTCATTATTTCAAACAAAATTCCCATTTCTTTATTGGTTTTCACTGGAATTCAGGTCTATGACCTATGTAGATGTGATTCTGGTCCAACCCCACATTAGAACTAAGCATCCCAGCTCTTGCTCAGCCCTAAGACTCACACACCTATGGGCTTGCAGGTCCATTCTCCTTTTCCATTACCAAGACACACACACTCTAACATGTAACCACCAGTCTCATGTGGTCTCCTCCAGGTGTCACCAATCTTGTAGGACTGACCCCCTTCATGGCAGCGGTCTGTTGAAGATACAACGAAAATGTTAGGAGAGGGCAGAACAGATTTTTTTTTTTGGTCTCATATTCCACCCATGGTAGGTACTTAGGTTGGCTAAAGTAGAGACACAGACAACAGCTTTCCCATCAGAGACAGGGGAAACGTTAACAGGTCTGGTCACTTGGAGTCAATTCAGTTAAGTGTCTTGCTTAGAACACAATGGAAAACCACAGAGAAATCTGGATGGCAAGGAAGAGGTCATGAATCCTGCTTTCCCAGAGAGATCACAGGAAATTGGGTCCTAAGCAGAAAAGAAAGGCTGGGAGGCTTGGTCTTCACTCATACACAGCAGGCTAAGACTGAGACTAATTCAGTGAAAAGGCCACATCAGGCACAGCACTCCAGCTTTTGGGAGCATGGAGAGCCTGTATTTTACCCTAGGATAGAAATGTCATTTTGGTGGAAAGCAAACAGACATATGCATATAAAGTGTGGAAATCCTGGTAGTTTTCTAAGTTGTTAAGCCCAATGGCACATTCAAATGCTGAACTAGATTGTAAACACTATGGACCCTTGCCTCTTGCGATTTGCCTGTGAACTTGGATAAACCCTAACATGAAATATGGGGAAAGTTGATTGGGCCTATTCACACGGGACTTGTTCTTTTGAATAGAAGTCTTTAAGACGACTTATATTTAAAGAATGGATTAAAAAACTTAAATACTATCTTAATAGAATCTATTGGTAACCCAGTGAATCATACTGGAAAGAGTGCCTTAGCTAAACTAGAGTTGAGAATCAGCCCGGTTCCCAAAGTTCCTTAGCAAACTCT 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GTCATCACTGTTTATGGCCTGCCTTTCAATAGGGACCTTGCTTTAGAAAACTAAAAACAGGCTAAGCGCGGTGGCTCACGCCTGTAATCCTAGTACTTTAGGAGGGTGGATCACCTGCAGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCCGTCTCTACTAAAAATACCAAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAATCCAAGCTACTCGGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAATGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCGACAGGGTGAGACTGTCTCAAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAGCAAACAAAAAAAAGCTTATAACAATGGGGAGGCAAGCAGGTATCAAAGGGTCTTCACCAATGGCTACAAAGAAGCTATAAGAAGGTGGTAGTATCTCTTTCTTCATTTGTTATGTAAAAAATGTAGAGGATGCACAATTTCTTTGACTAAAATATTATTTTCCCTTCCCCTATACCCAAACATCTACAGTATTTAAAAATCACTAGCAAAATAGCCCCAAATTATTCAGTGTTAGCCCTCCACTGGAAGAGTGGGATCAACATAAAATGATAATTTGTAACTAAATGACCATTAGTCTATGCGTGCATTTATCTGGTAAATAGATTATTTAAATTATAATCCAAATTTGCTCTGTGCCACGATGTGAGTATAGAGGATCTGATGTCTTTGTGAATTGGATATTGTTGCAACTCCTGGGTTAGAGAAAAAAAATTAATAGTTGATGTAGGTTCAAACAAATACACACCCACATCCATCTACCACAAGAATAGAAGTTTGCATGAAGGTATAATTACTGATTAGAGCTTTTTCCCAAATCCCCAGCGAAAAGTATTATCATCCCCTGAACCTCCATAGCACTACTTTCAGTATTTCTGTTGAAATCTTTAATACTGTGTTTTGCAGATGATAAATATGTATAAGACTTTCTCATCTCCCTGACCCCCTAAGTACTCTTTGAAGGCTGGGCTAATGTTCATTTCATATCTGCACCCCTATAATACCTTGAACAAAGTAAGTCCTTATAAAATTTTCTGGAATAAATGACTTCTCTTTGAGAAACTTTTCCCAACTTGCTATTTAAAGAGTTCTAAATAACAGATAAGGTTTGAATCAGACATCTAATTTGTCTTAAGCTAAAATATTGCCACAAAGATCTTGGAAGTCTGATGATCACAGTAACATTTTAAATGCAAAATATCTAATAAACCAGCAAGTTTCTGGGAAAGCTTTGGTCAAAATGGTTACCACTTTTCATGAGAGACCTATTTTTGTTAGCAAAGAATTTGAATTTGGATGATGGCTATGTTAAAGGTAGTTAAATGGGTTCAGCTAGATAAATAAAACAGGTTCAAATTATTTGGATTTGATTTTAAACTTATTTACAACACCAGTAGTTAATGGCTGTTTTACTTCAACAAACTCTCTAGCTGTTATTAGTTTACAATATCAAAAAAGGAGCCTTCAAACCCAAAGGCAACAATTAAGACCCCAAGACAATCTTAGAAGGAGCAGTAAAGACACCAGAGGCCAGCTTCTTTACAGCACTAATCAAATGCGTTAGGTCAGAGACACTATCCCTAACTCCAGAGTAGATAAATCATTTTAATTTATGGGATAAATTCTTTTTAATTTTATCAATTTAGCCTGTGAATGTGCCCTATTTAAATTTCAAACATAGAAGGAAACCTAAACCTTTTGTTCAACTCTATGTCAGTGGCAGTGAGCTGAGATTGAACCTTATCAAAGTGATATGTTTTTCTATTTATGTAGTCTTCTCTGAAGATGCGGAATAAGTTGGTTATGAAAGTTTTCTTGACTTCCAGAAGTTACCAAAGCATGCTGATATACTGGATGTGTTCTGAGTAACATAGTATTACCCTTCTCTCTAGGAATCCAGAAAACAATACCTGGCTTAATCTTTAACATAAAGATGTAAAACATACTTCTAGAAGTGAAAGTGATGCGTCCGCTGCCTTCTCCCAGGCAAGTACAATCTACCATCATCCAGCCTTGGTAGGGCTTCTCCCACGTTTCTCCGACCACATAGGAAGTCCCAGCAGCATGATCAAAACACTTCTCAGCTGTAGGGAAATTTGGAAGAAAAACAGGAAAAAAAGGTTATTTTGAATTGTGCAAGCTCCCTGTAATTTAAAGTGTAGTGTGTAAGCAAAAATTCAGCCACATTTTTTTTAAGTGGCACTCTGTTCAGAAAGAATGACACACCCAGCATCTAAGCACACAGTAAGTAGCCAAGGCAAAAGAAAGCTCAAGCTGAGTTGGCAGGCAGAAATTCCATTCTCCTAATAAGTACATGGACTACATATTTTCAGCGAGCCCCAAACTTCCCAGCAGCATTTCCAGTAGCAAGGATCTATGTATGTATCTAGTCTGTGGGAGACTACATATGCAAAATTCCAATCTTAATTATAAATGACCAATTATGAATTTTGAGTGGCCTAAATACAATGACAAAGAAAGCTATTTTTAAATATTGGAAAGCAAAACAATACAAAACAAGACAAAAACCTCTAAATTAGAAGACAAGTAAACAGAGTAAAATTTATAGCCAGAAACTTTCAGGCTTGTACTTACAAAATTCAACTGAGGATTGAGATCCAAAGAAGCTCAACAACTTTTAATTTGAAAAGAAATGAGCAGAGTGTGACAAGCACACACTATTTCATGTTTCGGTCCAGGACATTCCATATAGAAATGTGTCCAAAGTGTCATTTTTTTTTCTTTTAAATAAATTATATCTTGACGAAGGAGGAATCTGAGATCAGCTATTAGGTAAAAGAAATGACTCCATTCTAAATCTTTCAATTCTACCTTATGCTTTTGAAGCAAAGTTAAGACTTCTATGTGTAGTCAGTACTTTTTGATCTAACTCCTGTAAGAAGACTATGGATTATATAATAATTCATTATTTCAAACAAAATTCCCATTTCTTTATTGGTTTTCACTGGAATTCAGGTCTATGACCTATGTAGATGTGATTCTGGTCCAACCCCACATTAGAACTAAGCATCCCAGCTCTTGCTCAGCCCTAAGACTCACACACCTATGGGCTTGCAGGTCCATTCTCCTTTTCCATTACCAAGACACACACACTCTAACATGTAACCACCAGTCTCATGTGGTCTCCTCCAGGTGTCACCAATCTTGTAGGACTGACCCCCTTCATGGCAGCGGTCTGTTGAAGATACAACGAAAATGTTAGGAGAGGGCAGAACAGATTTTTTTTTTTGGTCTCATATTCCACCCATGGTAGGTACTTAGGTTGGCTAAAGTAGAGACACAGACAACAGCTTTCCCATCAGAGACAGGGGAAACGTTAACAGGTCTGGTCACTTGGAGTCAATTCAGTTAAGTGTCTTGCTTAGAACACAATGGAAAACCACAGAGAAATCTGGATGGCAAGGAAGAGGTCATGAATCCTGCTTTCCCAGAGAGATCACAGGAAATTGGGTCCTAAGCAGAAAAGAAAGGCTGGGAGGCTTGGTCTTCACTCATACACAGCAGGCTAAGACTGAGACTAATTCAGTGAAAAGGCCACATCAGGCACAGCACTCCAGCTTTTGGGAGCATGGAGAGCCTGTATTTTACCCTAGGATAGAAATGTCATTTTGGTGGAAAGCAAACAGACATATGCATATAAAGTGTGGAAATCCTGGTAGTTTTCTAAGTTGTTAAGCCCAATGGCACATTCAAATGCTGAACTAGATTGTAAACACTATGGACCCTTGCCTCTTGCGATTTGCCTGTGAACTTGGATAAACCCTAACATGAAATATGGGGAAAGTTGATTGGGCCTATTCACACGGGACTTGTTCTTTTGAATAGAAGTCTTTAAGACGACTTATATTTAAAGAATGGATTAAAAAACTTAAATACTATCTTAATAGAATCTATTGGTAACCCAGTGAATCATACTGGAAAGAGTGCCTTAGCTAAACTAGAGTTGAGAATCAGCCCGGTTCCCAAAGTTCCTTAGCAAACTCT 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Task1_train_5427 | Assess the clinical impact of this variant on gene FN1 (fibronectin 1), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | CTTGCTTTAGAAAACTAAAAACAGGCTAAGCGCGGTGGCTCACGCCTGTAATCCTAGTACTTTAGGAGGGTGGATCACCTGCAGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCCGTCTCTACTAAAAATACCAAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAATCCAAGCTACTCGGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAATGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCGACAGGGTGAGACTGTCTCAAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAGCAAACAAAAAAAAGCTTATAACAATGGGGAGGCAAGCAGGTATCAAAGGGTCTTCACCAATGGCTACAAAGAAGCTATAAGAAGGTGGTAGTATCTCTTTCTTCATTTGTTATGTAAAAAATGTAGAGGATGCACAATTTCTTTGACTAAAATATTATTTTCCCTTCCCCTATACCCAAACATCTACAGTATTTAAAAATCACTAGCAAAATAGCCCCAAATTATTCAGTGTTAGCCCTCCACTGGAAGAGTGGGATCAACATAAAATGATAATTTGTAACTAAATGACCATTAGTCTATGCGTGCATTTATCTGGTAAATAGATTATTTAAATTATAATCCAAATTTGCTCTGTGCCACGATGTGAGTATAGAGGATCTGATGTCTTTGTGAATTGGATATTGTTGCAACTCCTGGGTTAGAGAAAAAAAATTAATAGTTGATGTAGGTTCAAACAAATACACACCCACATCCATCTACCACAAGAATAGAAGTTTGCATGAAGGTATAATTACTGATTAGAGCTTTTTCCCAAATCCCCAGCGAAAAGTATTATCATCCCCTGAACCTCCATAGCACTACTTTCAGTATTTCTGTTGAAATCTTTAATACTGTGTTTTGCAGATGATAAATATGTATAAGACTTTCTCATCTCCCTGACCCCCTAAGTACTCTTTGAAGGCTGGGCTAATGTTCATTTCATATCTGCACCCCTATAATACCTTGAACAAAGTAAGTCCTTATAAAATTTTCTGGAATAAATGACTTCTCTTTGAGAAACTTTTCCCAACTTGCTATTTAAAGAGTTCTAAATAACAGATAAGGTTTGAATCAGACATCTAATTTGTCTTAAGCTAAAATATTGCCACAAAGATCTTGGAAGTCTGATGATCACAGTAACATTTTAAATGCAAAATATCTAATAAACCAGCAAGTTTCTGGGAAAGCTTTGGTCAAAATGGTTACCACTTTTCATGAGAGACCTATTTTTGTTAGCAAAGAATTTGAATTTGGATGATGGCTATGTTAAAGGTAGTTAAATGGGTTCAGCTAGATAAATAAAACAGGTTCAAATTATTTGGATTTGATTTTAAACTTATTTACAACACCAGTAGTTAATGGCTGTTTTACTTCAACAAACTCTCTAGCTGTTATTAGTTTACAATATCAAAAAAGGAGCCTTCAAACCCAAAGGCAACAATTAAGACCCCAAGACAATCTTAGAAGGAGCAGTAAAGACACCAGAGGCCAGCTTCTTTACAGCACTAATCAAATGCGTTAGGTCAGAGACACTATCCCTAACTCCAGAGTAGATAAATCATTTTAATTTATGGGATAAATTCTTTTTAATTTTATCAATTTAGCCTGTGAATGTGCCCTATTTAAATTTCAAACATAGAAGGAAACCTAAACCTTTTGTTCAACTCTATGTCAGTGGCAGTGAGCTGAGATTGAACCTTATCAAAGTGATATGTTTTTCTATTTATGTAGTCTTCTCTGAAGATGCGGAATAAGTTGGTTATGAAAGTTTTCTTGACTTCCAGAAGTTACCAAAGCATGCTGATATACTGGATGTGTTCTGAGTAACATAGTATTACCCTTCTCTCTAGGAATCCAGAAAACAATACCTGGCTTAATCTTTAACATAAAGATGTAAAACATACTTCTAGAAGTGCAAGTGATGCGTCCGCTGCCTTCTCCCAGGCAAGTACAATCTACCATCATCCAGCCTTGGTAGGGCTTCTCCCACGTTTCTCCGACCACATAGGAAGTCCCAGCAGCATGATCAAAACACTTCTCAGCTGTAGGGAAATTTGGAAGAAAAACAGGAAAAAAAGGTTATTTTGAATTGTGCAAGCTCCCTGTAATTTAAAGTGTAGTGTGTAAGCAAAAATTCAGCCACATTTTTTTTAAGTGGCACTCTGTTCAGAAAGAATGACACACCCAGCATCTAAGCACACAGTAAGTAGCCAAGGCAAAAGAAAGCTCAAGCTGAGTTGGCAGGCAGAAATTCCATTCTCCTAATAAGTACATGGACTACATATTTTCAGCGAGCCCCAAACTTCCCAGCAGCATTTCCAGTAGCAAGGATCTATGTATGTATCTAGTCTGTGGGAGACTACATATGCAAAATTCCAATCTTAATTATAAATGACCAATTATGAATTTTGAGTGGCCTAAATACAATGACAAAGAAAGCTATTTTTAAATATTGGAAAGCAAAACAATACAAAACAAGACAAAAACCTCTAAATTAGAAGACAAGTAAACAGAGTAAAATTTATAGCCAGAAACTTTCAGGCTTGTACTTACAAAATTCAACTGAGGATTGAGATCCAAAGAAGCTCAACAACTTTTAATTTGAAAAGAAATGAGCAGAGTGTGACAAGCACACACTATTTCATGTTTCGGTCCAGGACATTCCATATAGAAATGTGTCCAAAGTGTCATTTTTTTTTCTTTTAAATAAATTATATCTTGACGAAGGAGGAATCTGAGATCAGCTATTAGGTAAAAGAAATGACTCCATTCTAAATCTTTCAATTCTACCTTATGCTTTTGAAGCAAAGTTAAGACTTCTATGTGTAGTCAGTACTTTTTGATCTAACTCCTGTAAGAAGACTATGGATTATATAATAATTCATTATTTCAAACAAAATTCCCATTTCTTTATTGGTTTTCACTGGAATTCAGGTCTATGACCTATGTAGATGTGATTCTGGTCCAACCCCACATTAGAACTAAGCATCCCAGCTCTTGCTCAGCCCTAAGACTCACACACCTATGGGCTTGCAGGTCCATTCTCCTTTTCCATTACCAAGACACACACACTCTAACATGTAACCACCAGTCTCATGTGGTCTCCTCCAGGTGTCACCAATCTTGTAGGACTGACCCCCTTCATGGCAGCGGTCTGTTGAAGATACAACGAAAATGTTAGGAGAGGGCAGAACAGATTTTTTTTTTTGGTCTCATATTCCACCCATGGTAGGTACTTAGGTTGGCTAAAGTAGAGACACAGACAACAGCTTTCCCATCAGAGACAGGGGAAACGTTAACAGGTCTGGTCACTTGGAGTCAATTCAGTTAAGTGTCTTGCTTAGAACACAATGGAAAACCACAGAGAAATCTGGATGGCAAGGAAGAGGTCATGAATCCTGCTTTCCCAGAGAGATCACAGGAAATTGGGTCCTAAGCAGAAAAGAAAGGCTGGGAGGCTTGGTCTTCACTCATACACAGCAGGCTAAGACTGAGACTAATTCAGTGAAAAGGCCACATCAGGCACAGCACTCCAGCTTTTGGGAGCATGGAGAGCCTGTATTTTACCCTAGGATAGAAATGTCATTTTGGTGGAAAGCAAACAGACATATGCATATAAAGTGTGGAAATCCTGGTAGTTTTCTAAGTTGTTAAGCCCAATGGCACATTCAAATGCTGAACTAGATTGTAAACACTATGGACCCTTGCCTCTTGCGATTTGCCTGTGAACTTGGATAAACCCTAACATGAAATATGGGGAAAGTTGATTGGGCCTATTCACACGGGACTTGTTCTTTTGAATAGAAGTCTTTAAGACGACTTATATTTAAAGAATGGATTAAAAAACTTAAATACTATCTTAATAGAATCTATTGGTAACCCAGTGAATCATACTGGAAAGAGTGCCTTAGCTAAACTAGAGTTGAGAATCAGCCCGGTTCCCAAAGTTCCTTAGCAAACTCTATTGGGTTAATAATTTTGTATTATCCCTAGGAATAG 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CTTGCTTTAGAAAACTAAAAACAGGCTAAGCGCGGTGGCTCACGCCTGTAATCCTAGTACTTTAGGAGGGTGGATCACCTGCAGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCCGTCTCTACTAAAAATACCAAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAATCCAAGCTACTCGGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAATGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCGACAGGGTGAGACTGTCTCAAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAGCAAACAAAAAAAAGCTTATAACAATGGGGAGGCAAGCAGGTATCAAAGGGTCTTCACCAATGGCTACAAAGAAGCTATAAGAAGGTGGTAGTATCTCTTTCTTCATTTGTTATGTAAAAAATGTAGAGGATGCACAATTTCTTTGACTAAAATATTATTTTCCCTTCCCCTATACCCAAACATCTACAGTATTTAAAAATCACTAGCAAAATAGCCCCAAATTATTCAGTGTTAGCCCTCCACTGGAAGAGTGGGATCAACATAAAATGATAATTTGTAACTAAATGACCATTAGTCTATGCGTGCATTTATCTGGTAAATAGATTATTTAAATTATAATCCAAATTTGCTCTGTGCCACGATGTGAGTATAGAGGATCTGATGTCTTTGTGAATTGGATATTGTTGCAACTCCTGGGTTAGAGAAAAAAAATTAATAGTTGATGTAGGTTCAAACAAATACACACCCACATCCATCTACCACAAGAATAGAAGTTTGCATGAAGGTATAATTACTGATTAGAGCTTTTTCCCAAATCCCCAGCGAAAAGTATTATCATCCCCTGAACCTCCATAGCACTACTTTCAGTATTTCTGTTGAAATCTTTAATACTGTGTTTTGCAGATGATAAATATGTATAAGACTTTCTCATCTCCCTGACCCCCTAAGTACTCTTTGAAGGCTGGGCTAATGTTCATTTCATATCTGCACCCCTATAATACCTTGAACAAAGTAAGTCCTTATAAAATTTTCTGGAATAAATGACTTCTCTTTGAGAAACTTTTCCCAACTTGCTATTTAAAGAGTTCTAAATAACAGATAAGGTTTGAATCAGACATCTAATTTGTCTTAAGCTAAAATATTGCCACAAAGATCTTGGAAGTCTGATGATCACAGTAACATTTTAAATGCAAAATATCTAATAAACCAGCAAGTTTCTGGGAAAGCTTTGGTCAAAATGGTTACCACTTTTCATGAGAGACCTATTTTTGTTAGCAAAGAATTTGAATTTGGATGATGGCTATGTTAAAGGTAGTTAAATGGGTTCAGCTAGATAAATAAAACAGGTTCAAATTATTTGGATTTGATTTTAAACTTATTTACAACACCAGTAGTTAATGGCTGTTTTACTTCAACAAACTCTCTAGCTGTTATTAGTTTACAATATCAAAAAAGGAGCCTTCAAACCCAAAGGCAACAATTAAGACCCCAAGACAATCTTAGAAGGAGCAGTAAAGACACCAGAGGCCAGCTTCTTTACAGCACTAATCAAATGCGTTAGGTCAGAGACACTATCCCTAACTCCAGAGTAGATAAATCATTTTAATTTATGGGATAAATTCTTTTTAATTTTATCAATTTAGCCTGTGAATGTGCCCTATTTAAATTTCAAACATAGAAGGAAACCTAAACCTTTTGTTCAACTCTATGTCAGTGGCAGTGAGCTGAGATTGAACCTTATCAAAGTGATATGTTTTTCTATTTATGTAGTCTTCTCTGAAGATGCGGAATAAGTTGGTTATGAAAGTTTTCTTGACTTCCAGAAGTTACCAAAGCATGCTGATATACTGGATGTGTTCTGAGTAACATAGTATTACCCTTCTCTCTAGGAATCCAGAAAACAATACCTGGCTTAATCTTTAACATAAAGATGTAAAACATACTTCTAGAAGTGCAAGTGATGCGTCCGCTGCCTTCTCCCAGGCAAGTATAATCTACCATCATCCAGCCTTGGTAGGGCTTCTCCCACGTTTCTCCGACCACATAGGAAGTCCCAGCAGCATGATCAAAACACTTCTCAGCTGTAGGGAAATTTGGAAGAAAAACAGGAAAAAAAGGTTATTTTGAATTGTGCAAGCTCCCTGTAATTTAAAGTGTAGTGTGTAAGCAAAAATTCAGCCACATTTTTTTTAAGTGGCACTCTGTTCAGAAAGAATGACACACCCAGCATCTAAGCACACAGTAAGTAGCCAAGGCAAAAGAAAGCTCAAGCTGAGTTGGCAGGCAGAAATTCCATTCTCCTAATAAGTACATGGACTACATATTTTCAGCGAGCCCCAAACTTCCCAGCAGCATTTCCAGTAGCAAGGATCTATGTATGTATCTAGTCTGTGGGAGACTACATATGCAAAATTCCAATCTTAATTATAAATGACCAATTATGAATTTTGAGTGGCCTAAATACAATGACAAAGAAAGCTATTTTTAAATATTGGAAAGCAAAACAATACAAAACAAGACAAAAACCTCTAAATTAGAAGACAAGTAAACAGAGTAAAATTTATAGCCAGAAACTTTCAGGCTTGTACTTACAAAATTCAACTGAGGATTGAGATCCAAAGAAGCTCAACAACTTTTAATTTGAAAAGAAATGAGCAGAGTGTGACAAGCACACACTATTTCATGTTTCGGTCCAGGACATTCCATATAGAAATGTGTCCAAAGTGTCATTTTTTTTTCTTTTAAATAAATTATATCTTGACGAAGGAGGAATCTGAGATCAGCTATTAGGTAAAAGAAATGACTCCATTCTAAATCTTTCAATTCTACCTTATGCTTTTGAAGCAAAGTTAAGACTTCTATGTGTAGTCAGTACTTTTTGATCTAACTCCTGTAAGAAGACTATGGATTATATAATAATTCATTATTTCAAACAAAATTCCCATTTCTTTATTGGTTTTCACTGGAATTCAGGTCTATGACCTATGTAGATGTGATTCTGGTCCAACCCCACATTAGAACTAAGCATCCCAGCTCTTGCTCAGCCCTAAGACTCACACACCTATGGGCTTGCAGGTCCATTCTCCTTTTCCATTACCAAGACACACACACTCTAACATGTAACCACCAGTCTCATGTGGTCTCCTCCAGGTGTCACCAATCTTGTAGGACTGACCCCCTTCATGGCAGCGGTCTGTTGAAGATACAACGAAAATGTTAGGAGAGGGCAGAACAGATTTTTTTTTTTGGTCTCATATTCCACCCATGGTAGGTACTTAGGTTGGCTAAAGTAGAGACACAGACAACAGCTTTCCCATCAGAGACAGGGGAAACGTTAACAGGTCTGGTCACTTGGAGTCAATTCAGTTAAGTGTCTTGCTTAGAACACAATGGAAAACCACAGAGAAATCTGGATGGCAAGGAAGAGGTCATGAATCCTGCTTTCCCAGAGAGATCACAGGAAATTGGGTCCTAAGCAGAAAAGAAAGGCTGGGAGGCTTGGTCTTCACTCATACACAGCAGGCTAAGACTGAGACTAATTCAGTGAAAAGGCCACATCAGGCACAGCACTCCAGCTTTTGGGAGCATGGAGAGCCTGTATTTTACCCTAGGATAGAAATGTCATTTTGGTGGAAAGCAAACAGACATATGCATATAAAGTGTGGAAATCCTGGTAGTTTTCTAAGTTGTTAAGCCCAATGGCACATTCAAATGCTGAACTAGATTGTAAACACTATGGACCCTTGCCTCTTGCGATTTGCCTGTGAACTTGGATAAACCCTAACATGAAATATGGGGAAAGTTGATTGGGCCTATTCACACGGGACTTGTTCTTTTGAATAGAAGTCTTTAAGACGACTTATATTTAAAGAATGGATTAAAAAACTTAAATACTATCTTAATAGAATCTATTGGTAACCCAGTGAATCATACTGGAAAGAGTGCCTTAGCTAAACTAGAGTTGAGAATCAGCCCGGTTCCCAAAGTTCCTTAGCAAACTCTATTGGGTTAATAATTTTGTATTATCCCTAGGAATAG 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Task1_train_5428 | Chromosome 2 houses a mutation in gene FN1 (fibronectin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Spondylometaphyseal dysplasia - Sutcliffe type | ACTATCTTAATAGAATCTATTGGTAACCCAGTGAATCATACTGGAAAGAGTGCCTTAGCTAAACTAGAGTTGAGAATCAGCCCGGTTCCCAAAGTTCCTTAGCAAACTCTATTGGGTTAATAATTTTGTATTATCCCTAGGAATAGTGACATCTGCTTCCTGGGTATAACCTACTGGTCACCAAGAAACCAGACTGTTTCTGTGAGGTGCAAGAGGTCTCTGCATTGCAAACATGAAGACCAGACAACACATGGCTGGTTCACTCTTCATGAACACCTTCCCAGTCACTGCAGAAAAGTCTCATGATTTGTCTAGCTTGAAGATATCCAGGTGATTTAAAATGGGCAACTCCCCTAAGCATGTCTTACTGAAATGGAACCCAAGAGGTCTCTTGGTTCTACTATGTACAGAAACACACACACTCATAAATGCACACACACTCATAAACGCACACACATCAAACACTGATTCCATCTGTGCTCATACCCGTCTTTAAGAAACACAGGAACCAGTTGGGTGACCACTTAAGAGTACCTGGTCACCAGGGGCAAACCTCAAAGTTCGGAATATCCAGTCATGGATAACAGAAAATGACAGTGATGGTAACAGAGAAATTCATATTTGATATTTTGGCATCATTTTACACAATCTCTTCCTTACTTGCGATGGTACAGCTTATTCTCCCTCGCCCAGCCCCGATGCAGGTACAGTCCCAGATCATGGAGTCTTTAGGACGCTCATAAGTGTCACCCACTCGGTAAGTGTTCCCAGTGTACTTGTCAAAGCAAGTCTCTTCAGCTGAGGGGAAAAGGAAAGTCCATGTGAGCCTCACTTAGGTACAAGCTTTTCTAGTTCACTAATCCCCTCTAAAGGAAAACCCACTTCTCTATTCCACAAGTAACATGGTACACCTCAAAGAATAAAATGAAGTGAGAGATACAGATTTTTATCCTAAGCTCTAATAAGGCCATGGTTTTTGACCTTGACATATTGTCAAATTTTCTGTAAATTATTCATATTGTAGAAAAATCTCAGGCTCTTAGGAAAAGGCCATATAAAGTACTAACTTATGACAGAGCTAGATTTGTGAAGGGTTTCACATTCCAATCTCTGACTCAGAAAGTCAAAGCAAGGTTCACATAAAAAGCAAACGATTGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCACCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATATGAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCTACTGCACTCCAGCCTGGTGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACAAAAACAAACAAACAATTCGAAGATCCCCACCTCCCACAAGGCCTTGACAGTTGTTAATCCTATGATTTCCATTTTCCCCTGATCAGTGCTTCTCTGACAGAGTTGCTATAATTTATGAGAAAAATATCATTGGTCCTAAAGGAATGAGAACTTTGAAGTGGCTAATGGTTTTGTGTTAACTGCCGCTGACAAATCATTTTACGATGTAAGTCCCCAAAGTGTTTTCTGGCTCATAAACTAACAGTTTAAGATTTGAGACTGCTTTCTAATAAATTAAAATTTTATAAGCAATTTTTTTTGTCGGAGGACACACAAAATCTTTCATTTTTCTCATCAAAAACTTTGGGAGAGTAAAGCAAAAAGAAGACTCTAGGAACTAATTTGGGAAAGATTCGTTTCTTTGTTTTAAAGGTAAAAGCATGTGAAAAGCAAATATAAGCAGTTTTTAAACTTAAGAGGAAATGACAGGTAATTCTATTAGAAAAATGGTGTATGTATTTTTACTTACTAATGCAAAGTTTAACAATTACCACTTCATGTATTAAAAGATACTAACTATGGGGCTTGTTGTCACTTACCTTCAGGTTTACTCTCGCAGTTAAAACCTCGGCTTCCTCCATAACAAGTACAAACCAACGCATTGCCTAGGTAGGTCCGCTCCCACTGTTGATTTATCTGATAGTGTTTTCCATTGTCATAACAACCGGCTGCAAATAATTGAAGGAAAACGTTACATTTGCATTTCTCCTTTTCCCAAAATTATGGAATTTTCTTCATGTGAATATTGACGTACATATTTTTTTCCTTTTAACTTTGCTAAAAGTTATATACAATGATGTCATTTCCATCTGGCCAGGGGTCTACATAAAAAAGTTGGAAACATTTTGGAAGGCAGACAATTGAAGTCACATTTTTAAAACATGCAAGGAACTTAAATATTCTTTTGGAGTAATAGTCAAAAAGGACAACTTTAAGCAGCTTTCTCAAAGCAAAAGGAGGGTGTGTCTTTGAAAAACGGAAAGAATTCCAACCTCTGTTCTTGGTGAAGTATCCTGAGCGGCCCTAAAGAGGTCTGAACCAATTACATCTCTTCCAAGTTAGTTAGAAACAAGACAGCTATTTCAATACCCCCTTTCCACCCCCATGTTGAAAATATTTGACCAATTATTTAACAGAAGGAAATAAGTAGCAGTAAGGACCACACTAATCCCAGACGGAAAATTTATAGACATGCATCATTTTTCTCTTTAAAGGCAAGTTTTGGTTAATTCCTAGAAGGACAATCTGAACGTGCAGAATTTATTAGAACACGGGAAAGTCGCAGAGTCCTCGTCCTCCAATGCACGGTCTTATCATCCCAGGCCCTCAGAACCAGCGTGCTCAAAACTCGGTCCTTTTGTGTGCACAGCTGGTTTCTCTCAGTAAAGCGCGCACACACTCGCACACACGCGCGCGCACAAAACTTCAGCCCCAACTTTGGTCGGCTTTAGGGTCCCATCCCTGAGGCAGCCTGTTTCAGCCCGCGGTCAGTACTCACGCTTGCTTTGACTGACAGCCACCGGGGACTGGGGCTGAACCATTTGCTGAGCCTGCCTCTTGCTCTTCGAGGCTCCCGTGGAGGGCACCGCTGTCCCCAGGCACTGGACGGCCAGCAGCAGCAGCCCGGGCCCCGGACCCCTAAGCATGTTGAGACGGTGGGGGAGAGACGCCCGCACCGGGAGGCAAGTTGCCACCAAGTTTGCTTCCCTTCGCAACCTGCGGGAAAAATCCCTTCTAATGCCTCCCGGGGGTTGTCGCCTCCAAGAAGGTGGGGGCCAGAGGGTGGGGAAGGGGACGGGTGGAGGGACAGAAGGGATGCAGAGGACCAGAGAAGTTGTGGCTGCAGGTCCCCTCTTCCCGCTCGCGCCTGGGGTTCCCTCTCCTCCCCCTGTGCAGCACAGCCGGCGCGGGCGTCCGAGCGCCGGGAGCCGGGGCTTATATGGGACGGTCCCCTCCCGCCCCTCTGGAGGCCCGGGGCGCGGGGGAGGAGAGACCCGCCGGGCTGTCCCCGCCCCGCCCCACCCCACCCGCCCGCCCGCCCGCCGGCCGCCGCAGCCGACCGCGCGCCGATTGGCCCGGGCTCCGGGTGACGTCACGGGGGACTGTGGGTTCGCAGCGAACAAAAGAGATGCTGATGGCCCGCCAGGACTGGGGCAAGACAACTTTTTTTCGGTTTCCTTTGCGGTCATCAAACTTTTTAGGGGATGGGGGAAGGGATGGGAAGCGGCTGGGAGGAAAGGGAGTGGCTGGACTTGTGTGAAGCGAAGGGGTTGCAAGACGCTCCCCCTTCCCTTTTCTTTTTTATTGGGGGTGGTGGTAGTGTTTGAGGACATTGCGTCACCTCTCTTCGGGGTGGAGGGGGGGAATCTCTGCTTATAGGAGTGTATTTTGTGAGGAAGAAAACCCATAAAATATCCACGACCTTGCAGCTGTTAAGAATCCAGACTTTTCAGTCCCAGGGCGGGGCTGCCTTTCCCCCCATCCCGCTCCCTTTCTTTGGACTAAAGGGTACTGACTCGGGACTCCCTTATTTTGTCTTCACAGCTCCCTGTTCGGACTTCTTCCCTTCTCAGCGCTGTGCCTGTCTGGCTCTGAGAAAGGGC 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ACTATCTTAATAGAATCTATTGGTAACCCAGTGAATCATACTGGAAAGAGTGCCTTAGCTAAACTAGAGTTGAGAATCAGCCCGGTTCCCAAAGTTCCTTAGCAAACTCTATTGGGTTAATAATTTTGTATTATCCCTAGGAATAGTGACATCTGCTTCCTGGGTATAACCTACTGGTCACCAAGAAACCAGACTGTTTCTGTGAGGTGCAAGAGGTCTCTGCATTGCAAACATGAAGACCAGACAACACATGGCTGGTTCACTCTTCATGAACACCTTCCCAGTCACTGCAGAAAAGTCTCATGATTTGTCTAGCTTGAAGATATCCAGGTGATTTAAAATGGGCAACTCCCCTAAGCATGTCTTACTGAAATGGAACCCAAGAGGTCTCTTGGTTCTACTATGTACAGAAACACACACACTCATAAATGCACACACACTCATAAACGCACACACATCAAACACTGATTCCATCTGTGCTCATACCCGTCTTTAAGAAACACAGGAACCAGTTGGGTGACCACTTAAGAGTACCTGGTCACCAGGGGCAAACCTCAAAGTTCGGAATATCCAGTCATGGATAACAGAAAATGACAGTGATGGTAACAGAGAAATTCATATTTGATATTTTGGCATCATTTTACACAATCTCTTCCTTACTTGCGATGGTACAGCTTATTCTCCCTCGCCCAGCCCCGATGCAGGTACAGTCCCAGATCATGGAGTCTTTAGGACGCTCATAAGTGTCACCCACTCGGTAAGTGTTCCCAGTGTACTTGTCAAAGCAAGTCTCTTCAGCTGAGGGGAAAAGGAAAGTCCATGTGAGCCTCACTTAGGTACAAGCTTTTCTAGTTCACTAATCCCCTCTAAAGGAAAACCCACTTCTCTATTCCACAAGTAACATGGTACACCTCAAAGAATAAAATGAAGTGAGAGATACAGATTTTTATCCTAAGCTCTAATAAGGCCATGGTTTTTGACCTTGACATATTGTCAAATTTTCTGTAAATTATTCATATTGTAGAAAAATCTCAGGCTCTTAGGAAAAGGCCATATAAAGTACTAACTTATGACAGAGCTAGATTTGTGAAGGGTTTCACATTCCAATCTCTGACTCAGAAAGTCAAAGCAAGGTTCACATAAAAAGCAAACGATTGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCACCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATATGAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCTACTGCACTCCAGCCTGGTGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACAAAAACAAACAAACAATTCGAAGATCCCCACCTCCCACAAGGCCTTGACAGTTGTTAATCCTATGATTTCCATTTTCCCCTGATCAGTGCTTCTCTGACAGAGTTGCTATAATTTATGAGAAAAATATCATTGGTCCTAAAGGAATGAGAACTTTGAAGTGGCTAATGGTTTTGTGTTAACTGCCGCTGACAAATCATTTTACGATGTAAGTCCCCAAAGTGTTTTCTGGCTCATAAACTAACAGTTTAAGATTTGAGACTGCTTTCTAATAAATTAAAATTTTATAAGCAATTTTTTTTGTCGGAGGACACACAAAATCTTTCATTTTTCTCATCAAAAACTTTGGGAGAGTAAAGCAAAAAGAAGACTCTAGGAACTAATTTGGGAAAGATTCGTTTCTTTGTTTTAAAGGTAAAAGCATGTGAAAAGCAAATATAAGCAGTTTTTAAACTTAAGAGGAAATGACAGGTAATTCTATTAGAAAAATGGTGTATGTATTTTTACTTACTAATGCAAAGTTTAACAATTACCACTTCATGTATTAAAAGATACTAACTATGGGGCTTGTTGTCACTTACCTTCAGGTTTACTCTCCCAGTTAAAACCTCGGCTTCCTCCATAACAAGTACAAACCAACGCATTGCCTAGGTAGGTCCGCTCCCACTGTTGATTTATCTGATAGTGTTTTCCATTGTCATAACAACCGGCTGCAAATAATTGAAGGAAAACGTTACATTTGCATTTCTCCTTTTCCCAAAATTATGGAATTTTCTTCATGTGAATATTGACGTACATATTTTTTTCCTTTTAACTTTGCTAAAAGTTATATACAATGATGTCATTTCCATCTGGCCAGGGGTCTACATAAAAAAGTTGGAAACATTTTGGAAGGCAGACAATTGAAGTCACATTTTTAAAACATGCAAGGAACTTAAATATTCTTTTGGAGTAATAGTCAAAAAGGACAACTTTAAGCAGCTTTCTCAAAGCAAAAGGAGGGTGTGTCTTTGAAAAACGGAAAGAATTCCAACCTCTGTTCTTGGTGAAGTATCCTGAGCGGCCCTAAAGAGGTCTGAACCAATTACATCTCTTCCAAGTTAGTTAGAAACAAGACAGCTATTTCAATACCCCCTTTCCACCCCCATGTTGAAAATATTTGACCAATTATTTAACAGAAGGAAATAAGTAGCAGTAAGGACCACACTAATCCCAGACGGAAAATTTATAGACATGCATCATTTTTCTCTTTAAAGGCAAGTTTTGGTTAATTCCTAGAAGGACAATCTGAACGTGCAGAATTTATTAGAACACGGGAAAGTCGCAGAGTCCTCGTCCTCCAATGCACGGTCTTATCATCCCAGGCCCTCAGAACCAGCGTGCTCAAAACTCGGTCCTTTTGTGTGCACAGCTGGTTTCTCTCAGTAAAGCGCGCACACACTCGCACACACGCGCGCGCACAAAACTTCAGCCCCAACTTTGGTCGGCTTTAGGGTCCCATCCCTGAGGCAGCCTGTTTCAGCCCGCGGTCAGTACTCACGCTTGCTTTGACTGACAGCCACCGGGGACTGGGGCTGAACCATTTGCTGAGCCTGCCTCTTGCTCTTCGAGGCTCCCGTGGAGGGCACCGCTGTCCCCAGGCACTGGACGGCCAGCAGCAGCAGCCCGGGCCCCGGACCCCTAAGCATGTTGAGACGGTGGGGGAGAGACGCCCGCACCGGGAGGCAAGTTGCCACCAAGTTTGCTTCCCTTCGCAACCTGCGGGAAAAATCCCTTCTAATGCCTCCCGGGGGTTGTCGCCTCCAAGAAGGTGGGGGCCAGAGGGTGGGGAAGGGGACGGGTGGAGGGACAGAAGGGATGCAGAGGACCAGAGAAGTTGTGGCTGCAGGTCCCCTCTTCCCGCTCGCGCCTGGGGTTCCCTCTCCTCCCCCTGTGCAGCACAGCCGGCGCGGGCGTCCGAGCGCCGGGAGCCGGGGCTTATATGGGACGGTCCCCTCCCGCCCCTCTGGAGGCCCGGGGCGCGGGGGAGGAGAGACCCGCCGGGCTGTCCCCGCCCCGCCCCACCCCACCCGCCCGCCCGCCCGCCGGCCGCCGCAGCCGACCGCGCGCCGATTGGCCCGGGCTCCGGGTGACGTCACGGGGGACTGTGGGTTCGCAGCGAACAAAAGAGATGCTGATGGCCCGCCAGGACTGGGGCAAGACAACTTTTTTTCGGTTTCCTTTGCGGTCATCAAACTTTTTAGGGGATGGGGGAAGGGATGGGAAGCGGCTGGGAGGAAAGGGAGTGGCTGGACTTGTGTGAAGCGAAGGGGTTGCAAGACGCTCCCCCTTCCCTTTTCTTTTTTATTGGGGGTGGTGGTAGTGTTTGAGGACATTGCGTCACCTCTCTTCGGGGTGGAGGGGGGGAATCTCTGCTTATAGGAGTGTATTTTGTGAGGAAGAAAACCCATAAAATATCCACGACCTTGCAGCTGTTAAGAATCCAGACTTTTCAGTCCCAGGGCGGGGCTGCCTTTCCCCCCATCCCGCTCCCTTTCTTTGGACTAAAGGGTACTGACTCGGGACTCCCTTATTTTGTCTTCACAGCTCCCTGTTCGGACTTCTTCCCTTCTCAGCGCTGTGCCTGTCTGGCTCTGAGAAAGGGC 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Task1_train_5429 | With a mutation on Chromosome 2 in gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Schimke immuno-osseous dysplasia | AGGTACAATAGATAGTAACCCCATTTATAGATGAGAAAATGGAATCTCAGAGGTTAAGCTCCATGCTTCCTCTTAATGAGGAGCCCTGGCGGATCTTGATGTGGCATCTTCTGACTTCCCAACTCAGGGGTTTTGCACTCTGTAGAGGGGGGAGTGAGTGGGATGTTCACTGTCTGCCAGGTAGCTTTATGGATCCAGAGCCTGACAAGAAAACTGTATCACTCACCCTTGAGCTTTTTTTGCTGTAAATCCAGGAATCAGAGTGCTTTTGTGAAATGAATAAAAAGCCCATGAACAAACTCAGTGAAGAAGGAAGACCTGGTCCATCGTCCACAGCTTTTTCTAGCTTTATGCCACTGACGTCAGCCTGGGACTTCTTCCTGAGGCCTCCATGAGCCATTCATGCAGAAGAGGCAGCTCCTCCTACTGCCGGTCAGTCCAAGGCCCAGATGTGCTATTCTGACCGAAGAGATGGCAAAAAAAAAAAACACTAAAAAATGTGCACCTTGTTTTTTTTCTGTCCTGGTGATCTGAGTTCTTTTTTTTTTTAATTTTAATTTTTTATTTTATTTTTTAATGAGACAGGGTCTCATTATGTTGCCCAGGCTGGTCTTGAACTCCTGAGGTCAAGTGATCCTTCTGCCTTGGCCTCCCAAGTCTTGTGAATTCTGCCAGTGCCTGTAGAAAGTAATCTTCAGAACATATTTTGTGTGCGTTAGGTTCCCACAGCACCCTCAGAAATTCTAGGAAGAGTCAGCCAGACGGTGACCAGCCTGAGGTTAGAGAAAAGGCCAGCCCTCCCTGTATTGAACAGTGTCACCCCATGTGAGGCAGGTGAGCACCCAGATGCCTGGGTGGGTTTGGCTAGAGATGCTCAGATTGCCAGAGAGAGAAGGTAGATTTGTAGAAATATCGACATAAGTAGTCTCGTCATCATCAATAAATGTTTATGATTTGCCTTCAGTGTACCAGGCTCTGCTACATCGTTCATAAAATTCCTCTTAAAAAGAGTCGCATTCTTTCCCTGCAGAAACTTACCATCTAGTTAGAGATCACAGAAATGAAACCCAGACACTGTGAAGTGACTGTTGACAAAGGCAGGGAGATAGCGAGGCATGGTGGTTCAGGCCTGTAGTCTCAGCAACTTGGGAAGCTGTGGCAGGAGGATTGCTTGAGGCCAGTACTTCAAGACCAGTCTGAACAACATACTGAGACCCATCTCTTTGAAAAAAAAAAAGAAAGAAAGAAATTAGCCAAGTATGGTGGTGTGCACCTGTAGTCCCAGCAACTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCCTAGGAGTTTGAGGCTGCAGTAAGCTGTGATGGTGCCACTGTACTCCAGCCTGGGCAACAAAGTGAGACCAACACAACTCTCTATTTTTTTTTTTTTTTTTTTTCTGAGACCCGAGGTTTCTCTCTTGTTGCCCAGGCCGGAGTGCAATGGCGCGATCTCGTCTCACCACAACCTCCACTTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGATGGGATTTCTCCGTGTTGGTCAGCCTGGTCTCAAACTCCCGATCTCAGGTGATCCGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCGACCGCACCCGTCTCCCCCAACTCTTAAAAAAACAAAAAAGGGAGTGTCCTGTTAGTGGCAAGTGAAGGGGCACAGGTAGGTGAGAGGAAGGTAGAGGTGATGGCTGTTGATGGGCATGAGACTGCTGCTGTCACAACCAACAGCTGCTGTGCTGGGTGGTCATTGTAGCTTTGTTCCCTCCTGTCATCCACAGGCCTTCCTTCGGTGGCTGCCATCTCTGAGCCCAGATTGCATCAACGTCGTGGTGACTGGGAAGGACCGCCTGACAGCTGGCCTGATCAACATTGTCAGCTTTGACCTTCTTAGCAAGTTGGAAAAACAGCTAAAAACCCCTTTTAAAGTTGTCATCATTGTAAGAAACTTGGCAAAGTCTTTAAGTACTTTATCTCTCTGGAAACTTTCTTTGTAAAAGCTCTGAGAACTTTCATGTCTGTAATCTCCTTGAGCCCCATTTAGTTTCTAGAAGAATAGAAATCACTGTCTTTATTTTGTGGGGAACTGGAAATTCATTCCCCTCAAATAGCCATTCTCAACTCTGGCTACGTACTAGAATCTCTTAGGGAGCTTTTTTTGAAATTGTGATTTAATTAGTCTTTGCTGGGGATTTCTAGCTCATCTCTTTCCCAGCGTGACTCATGGATGGAGGCCAGCATGTGGACCCCAGGCCACCTGGGGGCTCTGGGTACTACAACCTGGACGGCAAGGGGGTGTGCCTACATCTGGTGCCATCTTACTCAAACAATTGAGTTTTCTTCCAGCCAATGTGAAGATACACCCCCACCCCACAAAAGCACTTTTTACTCTAACTGTTTTTTGGAGGTTTTTCTGTGTTGTTTTTTTTGAGACAGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCTTGCCTCAGCTCCCCAAGTAGCTGGGATTACAGGCACTTGCCACCACGCCCAGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTTGCCCGGCCTCTAATTGTTTTTTAAAGAAGGTCTGACTGGACCTGCTTCCAGATTTGACAACATATCTTTCAATTGCAGGCTTTCCTACTTTTAACTCCTCACATACTTCCTAAGGAAAGTCTAGACAGACTTGGTACCCAGCCATCTCTGTCAGTACTGAGTATATTTACATAACTCACACAAATATTGTGGGAGCTTAGAGAAAGGAAGGAGAAGATACCGTTACTGACCTCAGGGGATCTATTATTCTGTTTTGGACATGAGAACCACACTGTGTTCTTAGCATAAGCAAACTTGAGTGTTGATAGTTTTGCAAAGTGATATAGGTAATGAGTCTTTGGGGGAGTCATTTTTGGTTCGGCACAAATTCAAGTGTGGCTTTGAAAAGATGTCAGCATACATGTGAAATGAAAACATTCCAAGAAGTTTCCCAGGATGATGGGGATGGCTCTACAGTGTGTGGGAAGAATAATGCTTTCAATTCTTGAGTGTTGCCTTGTGTTAGGTACTGACATATAATCATCTATTTTCCCAGTGGCCCCTGAGTAGGCTTTATCTTTTATCCTTGTGAATTATCCATTTCACAGCTGATGAAACTGGCAGTGAGAGTGGGTACATAAATTTGCCCATAGGCACAAAGCTAGCAAGTTGGAGGTTATTGAATAAAGCTGGGTTGCGTCTGCCTTCAGAATTCATGTTCTTCTCTTTCTGGCCCATCACTTAACCTGCTGTATGATTTTTGGCAAGCCACTTACCACCATTGTTGGTTTGTTCTTCAGTTAAGTAAGAGCTCTGTCCTCTTTCTTTCAGAGAAATGTTGTAAGAAAGAATAGAGTGATGGCTCTGAAGTGTCACACTTTTCAGAAGAGGCTTCAGTTTAAACCATTCTTTGAGATTTGTTCCAGTATTGGCACATTTTTACCCATTGGTTGAAAGGGCCCATTCTCTTCCATATCCTCTGTACTTTCTGTGTTTTTTCTCCATAAATACATTTTACTTGACTGTAATGAGGTCTCATGATCAGAAAGGCATATGACCGTAACACTCCAGCTTTCTGGACAGGATACTTTCTTGATATTTTGAGGGTTATTTCACACTCCCCTCTGCTGTGCTTTTGTGGCCCTTTTTGCTCATGATAGCTGAAATGGAATAGGGGATTTCTTATAGATCATCTTTAAGGACAGCGTTGGGATCTCACTGGTATCCCAGCTATAGGAAGGCTGATACCATTGAGTGCTTACTGAGTAACAGGGCTGTGCTAAGGACTTCACATGTGTTAGCT 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AGGTACAATAGATAGTAACCCCATTTATAGATGAGAAAATGGAATCTCAGAGGTTAAGCTCCATGCTTCCTCTTAATGAGGAGCCCTGGCGGATCTTGATGTGGCATCTTCTGACTTCCCAACTCAGGGGTTTTGCACTCTGTAGAGGGGGGAGTGAGTGGGATGTTCACTGTCTGCCAGGTAGCTTTATGGATCCAGAGCCTGACAAGAAAACTGTATCACTCACCCTTGAGCTTTTTTTGCTGTAAATCCAGGAATCAGAGTGCTTTTGTGAAATGAATAAAAAGCCCATGAACAAACTCAGTGAAGAAGGAAGACCTGGTCCATCGTCCACAGCTTTTTCTAGCTTTATGCCACTGACGTCAGCCTGGGACTTCTTCCTGAGGCCTCCATGAGCCATTCATGCAGAAGAGGCAGCTCCTCCTACTGCCGGTCAGTCCAAGGCCCAGATGTGCTATTCTGACCGAAGAGATGGCAAAAAAAAAAAACACTAAAAAATGTGCACCTTGTTTTTTTTCTGTCCTGGTGATCTGAGTTCTTTTTTTTTTTAATTTTAATTTTTTATTTTATTTTTTAATGAGACAGGGTCTCATTATGTTGCCCAGGCTGGTCTTGAACTCCTGAGGTCAAGTGATCCTTCTGCCTTGGCCTCCCAAGTCTTGTGAATTCTGCCAGTGCCTGTAGAAAGTAATCTTCAGAACATATTTTGTGTGCGTTAGGTTCCCACAGCACCCTCAGAAATTCTAGGAAGAGTCAGCCAGACGGTGACCAGCCTGAGGTTAGAGAAAAGGCCAGCCCTCCCTGTATTGAACAGTGTCACCCCATGTGAGGCAGGTGAGCACCCAGATGCCTGGGTGGGTTTGGCTAGAGATGCTCAGATTGCCAGAGAGAGAAGGTAGATTTGTAGAAATATCGACATAAGTAGTCTCGTCATCATCAATAAATGTTTATGATTTGCCTTCAGTGTACCAGGCTCTGCTACATCGTTCATAAAATTCCTCTTAAAAAGAGTCGCATTCTTTCCCTGCAGAAACTTACCATCTAGTTAGAGATCACAGAAATGAAACCCAGACACTGTGAAGTGACTGTTGACAAAGGCAGGGAGATAGCGAGGCATGGTGGTTCAGGCCTGTAGTCTCAGCAACTTGGGAAGCTGTGGCAGGAGGATTGCTTGAGGCCAGTACTTCAAGACCAGTCTGAACAACATACTGAGACCCATCTCTTTGAAAAAAAAAAAGAAAGAAAGAAATTAGCCAAGTATGGTGGTGTGCACCTGTAGTCCCAGCAACTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCCTAGGAGTTTGAGGCTGCAGTAAGCTGTGATGGTGCCACTGTACTCCAGCCTGGGCAACAAAGTGAGACCAACACAACTCTCTATTTTTTTTTTTTTTTTTTTTCTGAGACCCGAGGTTTCTCTCTTGTTGCCCAGGCCGGAGTGCAATGGCGCGATCTCGTCTCACCACAACCTCCACTTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGATGGGATTTCTCCGTGTTGGTCAGCCTGGTCTCAAACTCCCGATCTCAGGTGATCCGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCGACCGCACCCGTCTCCCCCAACTCTTAAAAAAACAAAAAAGGGAGTGTCCTGTTAGTGGCAAGTGAAGGGGCACAGGTAGGTGAGAGGAAGGTAGAGGTGATGGCTGTTGATGGGCATGAGACTGCTGCTGTCACAACCAACAGCTGCTGTGCTGGGTGGTCATTGTAGCTTTGTTCCCTCCTGTCATCCACAGGCCTTCCTTCGGTGGCTGCCATCTCTGAGCCCAGATTGCATCAACGTCGTGGTGACTGGGAAGGACCGCCTGACAGCTGGCCTGATCAACATTGTCAGCTTTGACCTTCTTAGCAAGTTGGAAAAACAGCTAAAAACCCCTTTTAAAGTTGTCATCAATGTAAGAAACTTGGCAAAGTCTTTAAGTACTTTATCTCTCTGGAAACTTTCTTTGTAAAAGCTCTGAGAACTTTCATGTCTGTAATCTCCTTGAGCCCCATTTAGTTTCTAGAAGAATAGAAATCACTGTCTTTATTTTGTGGGGAACTGGAAATTCATTCCCCTCAAATAGCCATTCTCAACTCTGGCTACGTACTAGAATCTCTTAGGGAGCTTTTTTTGAAATTGTGATTTAATTAGTCTTTGCTGGGGATTTCTAGCTCATCTCTTTCCCAGCGTGACTCATGGATGGAGGCCAGCATGTGGACCCCAGGCCACCTGGGGGCTCTGGGTACTACAACCTGGACGGCAAGGGGGTGTGCCTACATCTGGTGCCATCTTACTCAAACAATTGAGTTTTCTTCCAGCCAATGTGAAGATACACCCCCACCCCACAAAAGCACTTTTTACTCTAACTGTTTTTTGGAGGTTTTTCTGTGTTGTTTTTTTTGAGACAGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCTTGCCTCAGCTCCCCAAGTAGCTGGGATTACAGGCACTTGCCACCACGCCCAGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTTGCCCGGCCTCTAATTGTTTTTTAAAGAAGGTCTGACTGGACCTGCTTCCAGATTTGACAACATATCTTTCAATTGCAGGCTTTCCTACTTTTAACTCCTCACATACTTCCTAAGGAAAGTCTAGACAGACTTGGTACCCAGCCATCTCTGTCAGTACTGAGTATATTTACATAACTCACACAAATATTGTGGGAGCTTAGAGAAAGGAAGGAGAAGATACCGTTACTGACCTCAGGGGATCTATTATTCTGTTTTGGACATGAGAACCACACTGTGTTCTTAGCATAAGCAAACTTGAGTGTTGATAGTTTTGCAAAGTGATATAGGTAATGAGTCTTTGGGGGAGTCATTTTTGGTTCGGCACAAATTCAAGTGTGGCTTTGAAAAGATGTCAGCATACATGTGAAATGAAAACATTCCAAGAAGTTTCCCAGGATGATGGGGATGGCTCTACAGTGTGTGGGAAGAATAATGCTTTCAATTCTTGAGTGTTGCCTTGTGTTAGGTACTGACATATAATCATCTATTTTCCCAGTGGCCCCTGAGTAGGCTTTATCTTTTATCCTTGTGAATTATCCATTTCACAGCTGATGAAACTGGCAGTGAGAGTGGGTACATAAATTTGCCCATAGGCACAAAGCTAGCAAGTTGGAGGTTATTGAATAAAGCTGGGTTGCGTCTGCCTTCAGAATTCATGTTCTTCTCTTTCTGGCCCATCACTTAACCTGCTGTATGATTTTTGGCAAGCCACTTACCACCATTGTTGGTTTGTTCTTCAGTTAAGTAAGAGCTCTGTCCTCTTTCTTTCAGAGAAATGTTGTAAGAAAGAATAGAGTGATGGCTCTGAAGTGTCACACTTTTCAGAAGAGGCTTCAGTTTAAACCATTCTTTGAGATTTGTTCCAGTATTGGCACATTTTTACCCATTGGTTGAAAGGGCCCATTCTCTTCCATATCCTCTGTACTTTCTGTGTTTTTTCTCCATAAATACATTTTACTTGACTGTAATGAGGTCTCATGATCAGAAAGGCATATGACCGTAACACTCCAGCTTTCTGGACAGGATACTTTCTTGATATTTTGAGGGTTATTTCACACTCCCCTCTGCTGTGCTTTTGTGGCCCTTTTTGCTCATGATAGCTGAAATGGAATAGGGGATTTCTTATAGATCATCTTTAAGGACAGCGTTGGGATCTCACTGGTATCCCAGCTATAGGAAGGCTGATACCATTGAGTGCTTACTGAGTAACAGGGCTGTGCTAAGGACTTCACATGTGTTAGCT 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Task1_train_5430 | A variant affecting Chromosome 2, within the gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Schimke immuno-osseous dysplasia | TGTCAGTACTGAGTATATTTACATAACTCACACAAATATTGTGGGAGCTTAGAGAAAGGAAGGAGAAGATACCGTTACTGACCTCAGGGGATCTATTATTCTGTTTTGGACATGAGAACCACACTGTGTTCTTAGCATAAGCAAACTTGAGTGTTGATAGTTTTGCAAAGTGATATAGGTAATGAGTCTTTGGGGGAGTCATTTTTGGTTCGGCACAAATTCAAGTGTGGCTTTGAAAAGATGTCAGCATACATGTGAAATGAAAACATTCCAAGAAGTTTCCCAGGATGATGGGGATGGCTCTACAGTGTGTGGGAAGAATAATGCTTTCAATTCTTGAGTGTTGCCTTGTGTTAGGTACTGACATATAATCATCTATTTTCCCAGTGGCCCCTGAGTAGGCTTTATCTTTTATCCTTGTGAATTATCCATTTCACAGCTGATGAAACTGGCAGTGAGAGTGGGTACATAAATTTGCCCATAGGCACAAAGCTAGCAAGTTGGAGGTTATTGAATAAAGCTGGGTTGCGTCTGCCTTCAGAATTCATGTTCTTCTCTTTCTGGCCCATCACTTAACCTGCTGTATGATTTTTGGCAAGCCACTTACCACCATTGTTGGTTTGTTCTTCAGTTAAGTAAGAGCTCTGTCCTCTTTCTTTCAGAGAAATGTTGTAAGAAAGAATAGAGTGATGGCTCTGAAGTGTCACACTTTTCAGAAGAGGCTTCAGTTTAAACCATTCTTTGAGATTTGTTCCAGTATTGGCACATTTTTACCCATTGGTTGAAAGGGCCCATTCTCTTCCATATCCTCTGTACTTTCTGTGTTTTTTCTCCATAAATACATTTTACTTGACTGTAATGAGGTCTCATGATCAGAAAGGCATATGACCGTAACACTCCAGCTTTCTGGACAGGATACTTTCTTGATATTTTGAGGGTTATTTCACACTCCCCTCTGCTGTGCTTTTGTGGCCCTTTTTGCTCATGATAGCTGAAATGGAATAGGGGATTTCTTATAGATCATCTTTAAGGACAGCGTTGGGATCTCACTGGTATCCCAGCTATAGGAAGGCTGATACCATTGAGTGCTTACTGAGTAACAGGGCTGTGCTAAGGACTTCACATGTGTTAGCTCATTTCAGACTCACAGCAACCTAATACATAAGGAATTATGATACCCATTTTACAGACAGCAAAACTGGCATTACAGAGAGGTGGTTGCTCAGAGTCACACAGCAAGGAATTTGACTCTGTACCAAACTAGAAAATTTCCACTTAAATACTCATGTATTAGTTACTCATTTGGCTTTAGAAAATATGATCAACTCTATATTTGCTTATGCAACAAAAAGAAAAAAAGAATAAAGAAAAACAAACTATATATATATATATGTATGTATTTGCTTATGCACAGATACAGAGTGGTTAATCAGACTTCATGTTCTAAACATAGCAGTTCCTTGAGAATAGGAATCATATCGTCTTCTTTCCGTCTCTCAGTTTCCCCAGCACTTTGTTTACACTCGCCTCAGTGACAGTACTGATAATACAGCCTGATCGGTTGTCAGTGTGTCTGGCATCCTTCCTGCACCCTGAGCCCCTGAGGGCAGGGGCTGGACACCCCAGAGCTTTGCACCAGTGCAGGGCCCATTATGGGGCACTTGGTCTAGTGCTCCACAGGTGGGAGGTGCCTCTTACAAAGCAGCAAACCACCTTCTAGTGGTTTCTTTGAGCAGCCTCTGAGGTGGGCGGAGCAGGGATTCATGAATCCCACTTTATAGATGGAAAATTGTCCCCAGAGAGCTGAAGCAACTTGCTCAGAATGCAGTAGAGAAGCTGCCACCAGACCCCTGGGTCCTGACCTAGGCCCAGTGAGCCATCTCCTTGAATGAGAAAGTGCTAAGGGAGCATCCACCTTGCACTTGCCATGCCAGGGTCAAGCCTAAAGTGACCCATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAATATTTTGCTCAGGCTTGCATGTCGTCCTAGTCCAGCAGGGGTTGCAAGTATAGACCTGTGGGCCATGGTCATGACTTGGCATTGACTTAGGGCATCTGTCTCTCTCCTTAGGGCTGTGGTACCAATTTCATCTTTCTTCCTAACATCCTGCTAAGGAACTAGTAGGCAGTACTAGTAGTCAGTAGTGCTGCCTTTGTCTCTCGAAGGTCAAGACTGTTGAGGCTGGGTGGGCATTGGACTCCAGAATCCTCCTCTGGCTTCCTACTTAGATAAGAGAGAGCCTCTAGCAGCTTGTCCACTAATTAGCTTAGAAAAAACTGCCTGTCTTCTAAGTCACTTGTAGTGGCAAAGCTGCCTAGATGCTGGAAATCAGGGAAGACGAGTTGTATTAATGAAAGTAATGGCAAAAAAACGCAATTACTTTTGCATCAACCTAATACAAACAGAACTGAGCAAGGGCTGGCGGGGTCAGCGAGATACACTGGCAAAGCTAAGATGGGCCTTAAAAGCTGATACTGTTTTCTGTGGCTACCCTGAGCCTCTTTGGTTGACAGAAGGGGCAGCCATCCCCCTTCCTCCCTGTGGTGGCCTAAACTCATTTCTGAGTGCTTTGGCGGGTGTGAGTTCTGGCTTCACAGCAAGCAGGCGTGGGTATGTGATGCAGATTCTAGTCTTTAAGCATGTTCTGATGTGCAATATAGGCTCTGTATTTCATCTGTCTCTCTCTTCTGTGTTTGGTTTCTTAGTCCCCCATCCCAACAGAGGGTAGTCCTCCAAATTTCCTTCCATTATGGGGGGGGGGGATGATTTTTTTCCTATTATTGTAAGAGGGAAGGAGAAGTACAATTAGAAAAGTAGCCTTTTCTCTTGTAACAAGTTAGAAGTTTCTCACAGATTACTTTGGAGGTATCCACTTTGGTTTGTGTAGACTGAGCAAACCAAAGTGTGTGTTTTTCTTGTGCTCAAAGCAACCTTTGTGTTGTACCAGCATTTTAAAACTATGGCTTTTATTGATTAAAAGAAGCTTTAACTTTTACCTAAACTAGGGAAAACAAATACGCTGAATGTTAATGAAGCTTAGCATTTGAACATTAATCTTAACATTTCCTCACAAAACACACGTAAGTGTCCACTCATTTCAAGTTTTCATGTGTTTAGGAATAACGGAATATGATACATCTTCCAAGGCAGGGTCATGTCATGTGCCAAACCAAAGAATAAAAGTCTTTTACTGCAAAAGCTTGGTTTTGCTGGGGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCATGTGGGTCACTTGAGACCAGGAGTTTGAGACCAGTCTGAGCAACATGACGAAATCCCGTCTGTACTAAAAATACAAAAATGAGCCAGGCATGGTGGTGCACACCAAGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGATTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAGAAAAAAAAAAAAAAAGCTTGATTCTCTGCCAGTATTACCTATAAATATTTATATGTCAATAGCCATTGATGGACACATTTAAATAAAATGTTTTTCCTAGGTTGATGACCCTTCTTTTGGGAGGCCTTAATATGCTTTCCATAGGAAAACAATAGGGTTAGGTATTTTGGTTTCAGTATTTCAGCCATAACTAAATTAAATCTTTACTCCTGATTGTTTAGACAAAAGAAAATGCACAATAGATAGATTCTATCATTAAAGATACAATGTGAAAGCTTCTAGCAACCACTTGTTAATGTAGTCATTGCCTGGCTGGGCAAGCTGAGCCAGATAGTGGTTTCTGAAATGTGTGCCTCTCAGCCAGACCTTTGGAAGCAGCATATACCTCTTTAATATCTTGAGTGTGTTTCAAAGTGACATGTTTAAAAGAAATCTCTAAACTGCTAACTAATATG 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TGTCAGTACTGAGTATATTTACATAACTCACACAAATATTGTGGGAGCTTAGAGAAAGGAAGGAGAAGATACCGTTACTGACCTCAGGGGATCTATTATTCTGTTTTGGACATGAGAACCACACTGTGTTCTTAGCATAAGCAAACTTGAGTGTTGATAGTTTTGCAAAGTGATATAGGTAATGAGTCTTTGGGGGAGTCATTTTTGGTTCGGCACAAATTCAAGTGTGGCTTTGAAAAGATGTCAGCATACATGTGAAATGAAAACATTCCAAGAAGTTTCCCAGGATGATGGGGATGGCTCTACAGTGTGTGGGAAGAATAATGCTTTCAATTCTTGAGTGTTGCCTTGTGTTAGGTACTGACATATAATCATCTATTTTCCCAGTGGCCCCTGAGTAGGCTTTATCTTTTATCCTTGTGAATTATCCATTTCACAGCTGATGAAACTGGCAGTGAGAGTGGGTACATAAATTTGCCCATAGGCACAAAGCTAGCAAGTTGGAGGTTATTGAATAAAGCTGGGTTGCGTCTGCCTTCAGAATTCATGTTCTTCTCTTTCTGGCCCATCACTTAACCTGCTGTATGATTTTTGGCAAGCCACTTACCACCATTGTTGGTTTGTTCTTCAGTTAAGTAAGAGCTCTGTCCTCTTTCTTTCAGAGAAATGTTGTAAGAAAGAATAGAGTGATGGCTCTGAAGTGTCACACTTTTCAGAAGAGGCTTCAGTTTAAACCATTCTTTGAGATTTGTTCCAGTATTGGCACATTTTTACCCATTGGTTGAAAGGGCCCATTCTCTTCCATATCCTCTGTACTTTCTGTGTTTTTTCTCCATAAATACATTTTACTTGACTGTAATGAGGTCTCATGATCAGAAAGGCATATGACCGTAACACTCCAGCTTTCTGGACAGGATACTTTCTTGATATTTTGAGGGTTATTTCACACTCCCCTCTGCTGTGCTTTTGTGGCCCTTTTTGCTCATGATAGCTGAAATGGAATAGGGGATTTCTTATAGATCATCTTTAAGGACAGCGTTGGGATCTCACTGGTATCCCAGCTATAGGAAGGCTGATACCATTGAGTGCTTACTGAGTAACAGGGCTGTGCTAAGGACTTCACATGTGTTAGCTCATTTCAGACTCACAGCAACCTAATACATAAGGAATTATGATACCCATTTTACAGACAGCAAAACTGGCATTACAGAGAGGTGGTTGCTCAGAGTCACACAGCAAGGAATTTGACTCTGTACCAAACTAGAAAATTTCCACTTAAATACTCATGTATTAGTTACTCATTTGGCTTTAGAAAATATGATCAACTCTATATTTGCTTATGCAACAAAAAGAAAAAAAGAATAAAGAAAAACAAACTATATATATATATATGTATGTATTTGCTTATGCACAGATACAGAGTGGTTAATCAGACTTCATGTTCTAAACATAGCAGTTCCTTGAGAATAGGAATCATATCGTCTTCTTTCCGTCTCTCAGTTTCCCCAGCACTTTGTTTACACTCGCCTCAGTGACAGTACTGATAATACAGCCTGATCGGTTGTCAGTGTGTCTGGCATCCTTCCTGCACCCTGAGCCCCTGAGGGCAGGGGCTGGACACCCCAGAGCTTTGCACCAGTGCAGGGCCCATTATGGGGCACTTGGTCTAGTGCTCCACAGGTGGGAGGTGCCTCTTACAAAGCAGCAAACCACCTTCTAGTGGTTTCTTTGAGCAGCCTCTGAGGTGGGCGGAGCAGGGATTCATGAATCCCACTTTATAGATGGAAAATTGTCCCCAGAGAGCTGAAGCAACTTGCTCAGAATGCAGTAGAGAAGCTGCCACCAGACCCCTGGGTCCTGACCTAGGCCCAGTGAGCCATCTCCTTGAATGAGAAAGTGCTAAGGGAGCATCCACCTTGCACTTGCCATGCCAGGGTCAAGCCTAAAGTGACCCATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCACTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAATATTTTGCTCAGGCTTGCATGTCGTCCTAGTCCAGCAGGGGTTGCAAGTATAGACCTGTGGGCCATGGTCATGACTTGGCATTGACTTAGGGCATCTGTCTCTCTCCTTAGGGCTGTGGTACCAATTTCATCTTTCTTCCTAACATCCTGCTAAGGAACTAGTAGGCAGTACTAGTAGTCAGTAGTGCTGCCTTTGTCTCTCGAAGGTCAAGACTGTTGAGGCTGGGTGGGCATTGGACTCCAGAATCCTCCTCTGGCTTCCTACTTAGATAAGAGAGAGCCTCTAGCAGCTTGTCCACTAATTAGCTTAGAAAAAACTGCCTGTCTTCTAAGTCACTTGTAGTGGCAAAGCTGCCTAGATGCTGGAAATCAGGGAAGACGAGTTGTATTAATGAAAGTAATGGCAAAAAAACGCAATTACTTTTGCATCAACCTAATACAAACAGAACTGAGCAAGGGCTGGCGGGGTCAGCGAGATACACTGGCAAAGCTAAGATGGGCCTTAAAAGCTGATACTGTTTTCTGTGGCTACCCTGAGCCTCTTTGGTTGACAGAAGGGGCAGCCATCCCCCTTCCTCCCTGTGGTGGCCTAAACTCATTTCTGAGTGCTTTGGCGGGTGTGAGTTCTGGCTTCACAGCAAGCAGGCGTGGGTATGTGATGCAGATTCTAGTCTTTAAGCATGTTCTGATGTGCAATATAGGCTCTGTATTTCATCTGTCTCTCTCTTCTGTGTTTGGTTTCTTAGTCCCCCATCCCAACAGAGGGTAGTCCTCCAAATTTCCTTCCATTATGGGGGGGGGGGATGATTTTTTTCCTATTATTGTAAGAGGGAAGGAGAAGTACAATTAGAAAAGTAGCCTTTTCTCTTGTAACAAGTTAGAAGTTTCTCACAGATTACTTTGGAGGTATCCACTTTGGTTTGTGTAGACTGAGCAAACCAAAGTGTGTGTTTTTCTTGTGCTCAAAGCAACCTTTGTGTTGTACCAGCATTTTAAAACTATGGCTTTTATTGATTAAAAGAAGCTTTAACTTTTACCTAAACTAGGGAAAACAAATACGCTGAATGTTAATGAAGCTTAGCATTTGAACATTAATCTTAACATTTCCTCACAAAACACACGTAAGTGTCCACTCATTTCAAGTTTTCATGTGTTTAGGAATAACGGAATATGATACATCTTCCAAGGCAGGGTCATGTCATGTGCCAAACCAAAGAATAAAAGTCTTTTACTGCAAAAGCTTGGTTTTGCTGGGGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCATGTGGGTCACTTGAGACCAGGAGTTTGAGACCAGTCTGAGCAACATGACGAAATCCCGTCTGTACTAAAAATACAAAAATGAGCCAGGCATGGTGGTGCACACCAAGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGATTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAGAAAAAAAAAAAAAAAGCTTGATTCTCTGCCAGTATTACCTATAAATATTTATATGTCAATAGCCATTGATGGACACATTTAAATAAAATGTTTTTCCTAGGTTGATGACCCTTCTTTTGGGAGGCCTTAATATGCTTTCCATAGGAAAACAATAGGGTTAGGTATTTTGGTTTCAGTATTTCAGCCATAACTAAATTAAATCTTTACTCCTGATTGTTTAGACAAAAGAAAATGCACAATAGATAGATTCTATCATTAAAGATACAATGTGAAAGCTTCTAGCAACCACTTGTTAATGTAGTCATTGCCTGGCTGGGCAAGCTGAGCCAGATAGTGGTTTCTGAAATGTGTGCCTCTCAGCCAGACCTTTGGAAGCAGCATATACCTCTTTAATATCTTGAGTGTGTTTCAAAGTGACATGTTTAAAAGAAATCTCTAAACTGCTAACTAATATG 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Task1_train_5431 | This alteration occurs within gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Schimke immuno-osseous dysplasia | TTACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGGGGACCCACCATGATGACCTTATCTACCTCCCAAAGGCCCCACCTTCAATCAACATAATGAATTTGGGGATTACTTTTCTAATGTGTGAAATTTGGGGGACACATTTAAGCCATAGCAATATCCAAATTAATTATGATATCCACTTGTTCTCAGCATGGTTTTTATTTAATACAATCCATAAGCCAGGGCTGCCTTTTTTTTTTCTTTTTCTTTTTCTTTTTCTTTTTGCCAGCTTCATGCATTAAGAAACCACTGAAAAGAGAACCTCATGCTGAGCTCATTTGCAAACCACTAACTATCTGAAGGCATTTGCTGAGAACTTCCAGTTGATTTCAGAGTATTTTTTAAAAAGAAGAAACAGCTTTACAACATTTTATTCCTCCACCTTTGACCATCTCTTCCTTCTCTCAATTTAGCAAAGGTTTATGAGACACCTATTCTGTCTCCACTATTATGCTAGGCTCTCTAGCCCTCTATAATGGGAAAACCTAGCCCCTACCCTCAGGTAGCTAGCTCATCAGCCAGGAGGGGAGATGAGCTCCTTAAAAGACAAAGTAGCAGGCACACTGGCTCCCTGATTTTCTACTAGACTGTAGAAATCAGTTCCATTTCCAGTAAGATTGTTGGTGAGGGATAGGGTTTTTAATGGTAATGGCTTCTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGTTGGAGTGCAGTGACACCATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTGTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCATGCTACCACGCCGGCTAATTTTTGTATGTTTAGTAGAGATAGGGTTTTGTCATGCTGGCAAAACTCCTGACCTCAACTGGTCTCTAACTCCTGACCTCAAGTGATCCTCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCTGGCCAGTAATGGCTTCTCTAGCTGTGTGATGGGGAATGAACATTTGAGATCACTGCCTCCCGTGAGCTCCTCAACGAGGGAGCCATGTTTATGAAGGACTGCCTAGGCCCTTAGCCAGACTGCCAGAAGCCTATGTGGTGGGCTCCTCCTGCCAACCCCAGCTGCCATCTACAACAACACTGCAGTTACTTTTATTATATTGTACTTGTTTGTGCTGGTGTAATCCATACTGCAGAACAACAGTTTTTAAAATCCCTGTAAGTCTCATCAAATAAAGATGTTACTGACATTATTTTATTACATTGTGCAACAGACTCTGTAGGATAAGCCATAGGGAAGATTTAGTATTTAGTGTACAGGAATAGTCTGACAAGCCAAGTTTTTTGTTTGTTTTTTAATAAAATGGACACCCAATTGCTTGACTTCTGGCATTTGCTGCTGGAAAAGAAAGCTCACTGCCAAATTGTAGAATGCCATGATAGGTGTTTTTTATTCATCTCATTCCTGACTTTTTTCTCTCTTTTCCTTTCCATTTCTCATTTGTTTTATTGGGGGTTTATTTGTCCCTGTAAGTCACTTGAAGTTTTCTGAGCTAAGCCAGGGGTGGTTGTGAGAAGAGGGACCTCCCGGGATCCCAAGTCCCTGTTGGACTGGGCCTGAAAGGAGCCTCATGGGGCTGTCGCTGTCTTGTTCTCTGCAGATGCCTTGGGGGTGGGACTACTCAGGTTCCTCCAACCTGGGAGAGCTGAAGCTCCTGCTGGAGGAAGCAGTCATGCTGCGGCGCCTCAAGTCCGACGTCCTTTCCCAGCTGCCTGCCAAGCAGCGCAAGATAGTGGTGATTGCCCCAGGACGGATCAATGCCAGGACCAGAGCTGCCCTGGATGCTGCAGCCAAGGAAATGACCACCAAGGACAAAACTGTGAGTCCAGGGCTGGAGACAGATTTGGAAGCAGACATGTCTAGGTGTTCCTTTCCATGAGAGGCCCTTGAAAATGACCTGGCATTCTCTCAGCTTTCCTTTCTGTAACCTTTTCCCTCTTCCCTAGGCAAGAACAGCAAGTCCATTTCATTCCTCAGCCTACCTAGTCAGTTTTGAAAAATCTCATATTAAGTTGTGGTTTTATACTTGTATAGATCGCTGTTGATGGATGGCCATAAAGATAAGCACAGGCAACAGCAGGGTGGTGATCAATATTCCGAATCCCTCAAAGAATGTGGAAATTATGTCTACTATATTTTGAGAATGCATCAGTCTAGTAACAGTTGTTAGAAAATTAGTCCTAACATGTTTGATACATATGTTAATCCTTTAACCATACTGTGTCATTTGTGTTAGTCAAAATAACAAGCCGACATTCTTATAACAAAATAGAGTTTTCAAATCCTCCTAACCTTTTAAATCCCTATTACAGGCATTTATGGTTGGCAGGAAGTTGGCATCCCCCTTTTTACAGAGAGGGAAACTGAGGCTCACAGAGATTGCAGTTTGCCCAGGGTCTCTTAGCTGCTCCACCACAGAGCTGAGGCTAGAACCAAGCCTCTTGCCCCTATATTTTAGGACTGTTTTCACTATGATGGTTTTATCTTTTCAAACACTTTTATTTCTGTCTTTAGTGTCATACTGTGCTAAGTGCTATAATCTACACCAGCTCTGTTTCTGTCCTCTTAGATAAAACCTTGTAATTCCCATTACTAAGAAAATAACAGTCATTGATATTTTTCAACATCATGAAGCATTATCTGGGCTTGATATTACCCTGTATAAAGATATTTAGATGTAGATCTCAGCCTTCTGGGAGGTTACAAAATAAATAAGAATGACAAGAGACAGAATGCATGTTTTTCATGTTATTTTACCATGTGATGAGCAAGATTCATTGATAACTTTTAAGAAATGACAGGATAGAGGATGCACTGGCAAATTTTCAAGCTGTATTGAATTTATGCTGTATTACATATAATAATCTGGATGGTCTGGAGTAAGTGAGCAGGCATCATCTCTTTATTGTGGAGTTTTCAAACTTAAACAACATCGATGTAGACATATAGACCAGTGTTCTCAGATTATATTTCAGTGGAATCATGAGTAAAACCAGGAAGCTTTGTCACTAAAATCAATCTTGGTGGTCTTTTGTTTATTTTTAGAGATAAAAATGCAATGAGTAGATTATTTTTTCTCAATTTGAAGTTTTTTCTTATAACTTTTTCTTAATAACTTTCGTCTACTGGTGAACTCTACCAGACAAGAAAACCAGTGAACTGGTATAGCAAATATAATATTAATGGAAAAATTCAGACATGCAATATTTTTAGATGCAAAGAGCTGAATATTTATAAAATGTTATTTTTTTTGCCAGCAAAGTTGTTCCTTGTGTGTGTGAGATGGAAGTAAGTCTGTTAGTGTTTCGTGAGATTCCCCAGAGAACACCCTCACCAATACCTGGTTCACCTCCTGAACCAGTTTGAGAACAGCCAAGGTAGACACCTGAAAAAGCAATTAGTGGGCATTTGAATTAAGGAGGAAAAGCACATTAACTTGTTGAAACACAACTGTGAATTGTGTAGTATGGCCAAAAAGAAAAAAAGAAAAGCAGTAGAAATTTTGTGCTTAGTGCAACAAGATCTGAAAGCATTTTGTAAACTTCTGCCAACTTGTATAGTTCTTCAAGTAAAGGGAGTGGCTCTTTTCAAAGATGATTTCAGATGTCACCTGAGAGTTTGATTTCTGAGCTTGTTGGTGATGCTATGAAATTAACTAGGAGGTACTATGGAATTTAGGAATGTTGGGTGTTTTATAACTTTAGGTAGCTATACAAATCCAGTATTT 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TTACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGGGGACCCACCATGATGACCTTATCTACCTCCCAAAGGCCCCACCTTCAATCAACATAATGAATTTGGGGATTACTTTTCTAATGTGTGAAATTTGGGGGACACATTTAAGCCATAGCAATATCCAAATTAATTATGATATCCACTTGTTCTCAGCATGGTTTTTATTTAATACAATCCATAAGCCAGGGCTGCCTTTTTTTTTTCTTTTTCTTTTTCTTTTTCTTTTTGCCAGCTTCATGCATTAAGAAACCACTGAAAAGAGAACCTCATGCTGAGCTCATTTGCAAACCACTAACTATCTGAAGGCATTTGCTGAGAACTTCCAGTTGATTTCAGAGTATTTTTTAAAAAGAAGAAACAGCTTTACAACATTTTATTCCTCCACCTTTGACCATCTCTTCCTTCTCTCAATTTAGCAAAGGTTTATGAGACACCTATTCTGTCTCCACTATTATGCTAGGCTCTCTAGCCCTCTATAATGGGAAAACCTAGCCCCTACCCTCAGGTAGCTAGCTCATCAGCCAGGAGGGGAGATGAGCTCCTTAAAAGACAAAGTAGCAGGCACACTGGCTCCCTGATTTTCTACTAGACTGTAGAAATCAGTTCCATTTCCAGTAAGATTGTTGGTGAGGGATAGGGTTTTTAATGGTAATGGCTTCTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGTTGGAGTGCAGTGACACCATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTGTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCATGCTACCACGCCGGCTAATTTTTGTATGTTTAGTAGAGATAGGGTTTTGTCATGCTGGCAAAACTCCTGACCTCAACTGGTCTCTAACTCCTGACCTCAAGTGATCCTCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCTGGCCAGTAATGGCTTCTCTAGCTGTGTGATGGGGAATGAACATTTGAGATCACTGCCTCCCGTGAGCTCCTCAACGAGGGAGCCATGTTTATGAAGGACTGCCTAGGCCCTTAGCCAGACTGCCAGAAGCCTATGTGGTGGGCTCCTCCTGCCAACCCCAGCTGCCATCTACAACAACACTGCAGTTACTTTTATTATATTGTACTTGTTTGTGCTGGTGTAATCCATACTGCAGAACAACAGTTTTTAAAATCCCTGTAAGTCTCATCAAATAAAGATGTTACTGACATTATTTTATTACATTGTGCAACAGACTCTGTAGGATAAGCCATAGGGAAGATTTAGTATTTAGTGTACAGGAATAGTCTGACAAGCCAAGTTTTTTGTTTGTTTTTTAATAAAATGGACACCCAATTGCTTGACTTCTGGCATTTGCTGCTGGAAAAGAAAGCTCACTGCCAAATTGTAGAATGCCATGATAGGTGTTTTTTATTCATCTCATTCCTGACTTTTTTCTCTCTTTTCCTTTCCATTTCTCATTTGTTTTATTGGGGGTTTATTTGTCCCTGTAAGTCACTTGAAGTTTTCTGAGCTAAGCCAGGGGTGGTTGTGAGAAGAGGGACCTCCCGGGATCCCAAGTCCCTGTTGGACTGGGCCTGAAAGGAGCCTCATGGGGCTGTCGCTGTCTTGTTCTCTGCAGATGCCTTGGGGGTGGGACTACTCAGGTTCCTCCAACCTGGGAGAGCTGAAGCTCCTGCTGGAGGAAGCAGTCATGCTGCAGCGCCTCAAGTCCGACGTCCTTTCCCAGCTGCCTGCCAAGCAGCGCAAGATAGTGGTGATTGCCCCAGGACGGATCAATGCCAGGACCAGAGCTGCCCTGGATGCTGCAGCCAAGGAAATGACCACCAAGGACAAAACTGTGAGTCCAGGGCTGGAGACAGATTTGGAAGCAGACATGTCTAGGTGTTCCTTTCCATGAGAGGCCCTTGAAAATGACCTGGCATTCTCTCAGCTTTCCTTTCTGTAACCTTTTCCCTCTTCCCTAGGCAAGAACAGCAAGTCCATTTCATTCCTCAGCCTACCTAGTCAGTTTTGAAAAATCTCATATTAAGTTGTGGTTTTATACTTGTATAGATCGCTGTTGATGGATGGCCATAAAGATAAGCACAGGCAACAGCAGGGTGGTGATCAATATTCCGAATCCCTCAAAGAATGTGGAAATTATGTCTACTATATTTTGAGAATGCATCAGTCTAGTAACAGTTGTTAGAAAATTAGTCCTAACATGTTTGATACATATGTTAATCCTTTAACCATACTGTGTCATTTGTGTTAGTCAAAATAACAAGCCGACATTCTTATAACAAAATAGAGTTTTCAAATCCTCCTAACCTTTTAAATCCCTATTACAGGCATTTATGGTTGGCAGGAAGTTGGCATCCCCCTTTTTACAGAGAGGGAAACTGAGGCTCACAGAGATTGCAGTTTGCCCAGGGTCTCTTAGCTGCTCCACCACAGAGCTGAGGCTAGAACCAAGCCTCTTGCCCCTATATTTTAGGACTGTTTTCACTATGATGGTTTTATCTTTTCAAACACTTTTATTTCTGTCTTTAGTGTCATACTGTGCTAAGTGCTATAATCTACACCAGCTCTGTTTCTGTCCTCTTAGATAAAACCTTGTAATTCCCATTACTAAGAAAATAACAGTCATTGATATTTTTCAACATCATGAAGCATTATCTGGGCTTGATATTACCCTGTATAAAGATATTTAGATGTAGATCTCAGCCTTCTGGGAGGTTACAAAATAAATAAGAATGACAAGAGACAGAATGCATGTTTTTCATGTTATTTTACCATGTGATGAGCAAGATTCATTGATAACTTTTAAGAAATGACAGGATAGAGGATGCACTGGCAAATTTTCAAGCTGTATTGAATTTATGCTGTATTACATATAATAATCTGGATGGTCTGGAGTAAGTGAGCAGGCATCATCTCTTTATTGTGGAGTTTTCAAACTTAAACAACATCGATGTAGACATATAGACCAGTGTTCTCAGATTATATTTCAGTGGAATCATGAGTAAAACCAGGAAGCTTTGTCACTAAAATCAATCTTGGTGGTCTTTTGTTTATTTTTAGAGATAAAAATGCAATGAGTAGATTATTTTTTCTCAATTTGAAGTTTTTTCTTATAACTTTTTCTTAATAACTTTCGTCTACTGGTGAACTCTACCAGACAAGAAAACCAGTGAACTGGTATAGCAAATATAATATTAATGGAAAAATTCAGACATGCAATATTTTTAGATGCAAAGAGCTGAATATTTATAAAATGTTATTTTTTTTGCCAGCAAAGTTGTTCCTTGTGTGTGTGAGATGGAAGTAAGTCTGTTAGTGTTTCGTGAGATTCCCCAGAGAACACCCTCACCAATACCTGGTTCACCTCCTGAACCAGTTTGAGAACAGCCAAGGTAGACACCTGAAAAAGCAATTAGTGGGCATTTGAATTAAGGAGGAAAAGCACATTAACTTGTTGAAACACAACTGTGAATTGTGTAGTATGGCCAAAAAGAAAAAAAGAAAAGCAGTAGAAATTTTGTGCTTAGTGCAACAAGATCTGAAAGCATTTTGTAAACTTCTGCCAACTTGTATAGTTCTTCAAGTAAAGGGAGTGGCTCTTTTCAAAGATGATTTCAGATGTCACCTGAGAGTTTGATTTCTGAGCTTGTTGGTGATGCTATGAAATTAACTAGGAGGTACTATGGAATTTAGGAATGTTGGGTGTTTTATAACTTTAGGTAGCTATACAAATCCAGTATTT 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Task1_train_5432 | A variant on Chromosome 2 in gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Schimke immuno-osseous dysplasia | ACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGGGGACCCACCATGATGACCTTATCTACCTCCCAAAGGCCCCACCTTCAATCAACATAATGAATTTGGGGATTACTTTTCTAATGTGTGAAATTTGGGGGACACATTTAAGCCATAGCAATATCCAAATTAATTATGATATCCACTTGTTCTCAGCATGGTTTTTATTTAATACAATCCATAAGCCAGGGCTGCCTTTTTTTTTTCTTTTTCTTTTTCTTTTTCTTTTTGCCAGCTTCATGCATTAAGAAACCACTGAAAAGAGAACCTCATGCTGAGCTCATTTGCAAACCACTAACTATCTGAAGGCATTTGCTGAGAACTTCCAGTTGATTTCAGAGTATTTTTTAAAAAGAAGAAACAGCTTTACAACATTTTATTCCTCCACCTTTGACCATCTCTTCCTTCTCTCAATTTAGCAAAGGTTTATGAGACACCTATTCTGTCTCCACTATTATGCTAGGCTCTCTAGCCCTCTATAATGGGAAAACCTAGCCCCTACCCTCAGGTAGCTAGCTCATCAGCCAGGAGGGGAGATGAGCTCCTTAAAAGACAAAGTAGCAGGCACACTGGCTCCCTGATTTTCTACTAGACTGTAGAAATCAGTTCCATTTCCAGTAAGATTGTTGGTGAGGGATAGGGTTTTTAATGGTAATGGCTTCTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGTTGGAGTGCAGTGACACCATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTGTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCATGCTACCACGCCGGCTAATTTTTGTATGTTTAGTAGAGATAGGGTTTTGTCATGCTGGCAAAACTCCTGACCTCAACTGGTCTCTAACTCCTGACCTCAAGTGATCCTCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCTGGCCAGTAATGGCTTCTCTAGCTGTGTGATGGGGAATGAACATTTGAGATCACTGCCTCCCGTGAGCTCCTCAACGAGGGAGCCATGTTTATGAAGGACTGCCTAGGCCCTTAGCCAGACTGCCAGAAGCCTATGTGGTGGGCTCCTCCTGCCAACCCCAGCTGCCATCTACAACAACACTGCAGTTACTTTTATTATATTGTACTTGTTTGTGCTGGTGTAATCCATACTGCAGAACAACAGTTTTTAAAATCCCTGTAAGTCTCATCAAATAAAGATGTTACTGACATTATTTTATTACATTGTGCAACAGACTCTGTAGGATAAGCCATAGGGAAGATTTAGTATTTAGTGTACAGGAATAGTCTGACAAGCCAAGTTTTTTGTTTGTTTTTTAATAAAATGGACACCCAATTGCTTGACTTCTGGCATTTGCTGCTGGAAAAGAAAGCTCACTGCCAAATTGTAGAATGCCATGATAGGTGTTTTTTATTCATCTCATTCCTGACTTTTTTCTCTCTTTTCCTTTCCATTTCTCATTTGTTTTATTGGGGGTTTATTTGTCCCTGTAAGTCACTTGAAGTTTTCTGAGCTAAGCCAGGGGTGGTTGTGAGAAGAGGGACCTCCCGGGATCCCAAGTCCCTGTTGGACTGGGCCTGAAAGGAGCCTCATGGGGCTGTCGCTGTCTTGTTCTCTGCAGATGCCTTGGGGGTGGGACTACTCAGGTTCCTCCAACCTGGGAGAGCTGAAGCTCCTGCTGGAGGAAGCAGTCATGCTGCGGCGCCTCAAGTCCGACGTCCTTTCCCAGCTGCCTGCCAAGCAGCGCAAGATAGTGGTGATTGCCCCAGGACGGATCAATGCCAGGACCAGAGCTGCCCTGGATGCTGCAGCCAAGGAAATGACCACCAAGGACAAAACTGTGAGTCCAGGGCTGGAGACAGATTTGGAAGCAGACATGTCTAGGTGTTCCTTTCCATGAGAGGCCCTTGAAAATGACCTGGCATTCTCTCAGCTTTCCTTTCTGTAACCTTTTCCCTCTTCCCTAGGCAAGAACAGCAAGTCCATTTCATTCCTCAGCCTACCTAGTCAGTTTTGAAAAATCTCATATTAAGTTGTGGTTTTATACTTGTATAGATCGCTGTTGATGGATGGCCATAAAGATAAGCACAGGCAACAGCAGGGTGGTGATCAATATTCCGAATCCCTCAAAGAATGTGGAAATTATGTCTACTATATTTTGAGAATGCATCAGTCTAGTAACAGTTGTTAGAAAATTAGTCCTAACATGTTTGATACATATGTTAATCCTTTAACCATACTGTGTCATTTGTGTTAGTCAAAATAACAAGCCGACATTCTTATAACAAAATAGAGTTTTCAAATCCTCCTAACCTTTTAAATCCCTATTACAGGCATTTATGGTTGGCAGGAAGTTGGCATCCCCCTTTTTACAGAGAGGGAAACTGAGGCTCACAGAGATTGCAGTTTGCCCAGGGTCTCTTAGCTGCTCCACCACAGAGCTGAGGCTAGAACCAAGCCTCTTGCCCCTATATTTTAGGACTGTTTTCACTATGATGGTTTTATCTTTTCAAACACTTTTATTTCTGTCTTTAGTGTCATACTGTGCTAAGTGCTATAATCTACACCAGCTCTGTTTCTGTCCTCTTAGATAAAACCTTGTAATTCCCATTACTAAGAAAATAACAGTCATTGATATTTTTCAACATCATGAAGCATTATCTGGGCTTGATATTACCCTGTATAAAGATATTTAGATGTAGATCTCAGCCTTCTGGGAGGTTACAAAATAAATAAGAATGACAAGAGACAGAATGCATGTTTTTCATGTTATTTTACCATGTGATGAGCAAGATTCATTGATAACTTTTAAGAAATGACAGGATAGAGGATGCACTGGCAAATTTTCAAGCTGTATTGAATTTATGCTGTATTACATATAATAATCTGGATGGTCTGGAGTAAGTGAGCAGGCATCATCTCTTTATTGTGGAGTTTTCAAACTTAAACAACATCGATGTAGACATATAGACCAGTGTTCTCAGATTATATTTCAGTGGAATCATGAGTAAAACCAGGAAGCTTTGTCACTAAAATCAATCTTGGTGGTCTTTTGTTTATTTTTAGAGATAAAAATGCAATGAGTAGATTATTTTTTCTCAATTTGAAGTTTTTTCTTATAACTTTTTCTTAATAACTTTCGTCTACTGGTGAACTCTACCAGACAAGAAAACCAGTGAACTGGTATAGCAAATATAATATTAATGGAAAAATTCAGACATGCAATATTTTTAGATGCAAAGAGCTGAATATTTATAAAATGTTATTTTTTTTGCCAGCAAAGTTGTTCCTTGTGTGTGTGAGATGGAAGTAAGTCTGTTAGTGTTTCGTGAGATTCCCCAGAGAACACCCTCACCAATACCTGGTTCACCTCCTGAACCAGTTTGAGAACAGCCAAGGTAGACACCTGAAAAAGCAATTAGTGGGCATTTGAATTAAGGAGGAAAAGCACATTAACTTGTTGAAACACAACTGTGAATTGTGTAGTATGGCCAAAAAGAAAAAAAGAAAAGCAGTAGAAATTTTGTGCTTAGTGCAACAAGATCTGAAAGCATTTTGTAAACTTCTGCCAACTTGTATAGTTCTTCAAGTAAAGGGAGTGGCTCTTTTCAAAGATGATTTCAGATGTCACCTGAGAGTTTGATTTCTGAGCTTGTTGGTGATGCTATGAAATTAACTAGGAGGTACTATGGAATTTAGGAATGTTGGGTGTTTTATAACTTTAGGTAGCTATACAAATCCAGTATTTTT 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ACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGGGGACCCACCATGATGACCTTATCTACCTCCCAAAGGCCCCACCTTCAATCAACATAATGAATTTGGGGATTACTTTTCTAATGTGTGAAATTTGGGGGACACATTTAAGCCATAGCAATATCCAAATTAATTATGATATCCACTTGTTCTCAGCATGGTTTTTATTTAATACAATCCATAAGCCAGGGCTGCCTTTTTTTTTTCTTTTTCTTTTTCTTTTTCTTTTTGCCAGCTTCATGCATTAAGAAACCACTGAAAAGAGAACCTCATGCTGAGCTCATTTGCAAACCACTAACTATCTGAAGGCATTTGCTGAGAACTTCCAGTTGATTTCAGAGTATTTTTTAAAAAGAAGAAACAGCTTTACAACATTTTATTCCTCCACCTTTGACCATCTCTTCCTTCTCTCAATTTAGCAAAGGTTTATGAGACACCTATTCTGTCTCCACTATTATGCTAGGCTCTCTAGCCCTCTATAATGGGAAAACCTAGCCCCTACCCTCAGGTAGCTAGCTCATCAGCCAGGAGGGGAGATGAGCTCCTTAAAAGACAAAGTAGCAGGCACACTGGCTCCCTGATTTTCTACTAGACTGTAGAAATCAGTTCCATTTCCAGTAAGATTGTTGGTGAGGGATAGGGTTTTTAATGGTAATGGCTTCTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGTTGGAGTGCAGTGACACCATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTGTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCATGCTACCACGCCGGCTAATTTTTGTATGTTTAGTAGAGATAGGGTTTTGTCATGCTGGCAAAACTCCTGACCTCAACTGGTCTCTAACTCCTGACCTCAAGTGATCCTCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCTGGCCAGTAATGGCTTCTCTAGCTGTGTGATGGGGAATGAACATTTGAGATCACTGCCTCCCGTGAGCTCCTCAACGAGGGAGCCATGTTTATGAAGGACTGCCTAGGCCCTTAGCCAGACTGCCAGAAGCCTATGTGGTGGGCTCCTCCTGCCAACCCCAGCTGCCATCTACAACAACACTGCAGTTACTTTTATTATATTGTACTTGTTTGTGCTGGTGTAATCCATACTGCAGAACAACAGTTTTTAAAATCCCTGTAAGTCTCATCAAATAAAGATGTTACTGACATTATTTTATTACATTGTGCAACAGACTCTGTAGGATAAGCCATAGGGAAGATTTAGTATTTAGTGTACAGGAATAGTCTGACAAGCCAAGTTTTTTGTTTGTTTTTTAATAAAATGGACACCCAATTGCTTGACTTCTGGCATTTGCTGCTGGAAAAGAAAGCTCACTGCCAAATTGTAGAATGCCATGATAGGTGTTTTTTATTCATCTCATTCCTGACTTTTTTCTCTCTTTTCCTTTCCATTTCTCATTTGTTTTATTGGGGGTTTATTTGTCCCTGTAAGTCACTTGAAGTTTTCTGAGCTAAGCCAGGGGTGGTTGTGAGAAGAGGGACCTCCCGGGATCCCAAGTCCCTGTTGGACTGGGCCTGAAAGGAGCCTCATGGGGCTGTCGCTGTCTTGTTCTCTGCAGATGCCTTGGGGGTGGGACTACTCAGGTTCCTCCAACCTGGGAGAGCTGAAGCTCCTGCTGGAGGAAGCAGTCATGCTGCGGTGCCTCAAGTCCGACGTCCTTTCCCAGCTGCCTGCCAAGCAGCGCAAGATAGTGGTGATTGCCCCAGGACGGATCAATGCCAGGACCAGAGCTGCCCTGGATGCTGCAGCCAAGGAAATGACCACCAAGGACAAAACTGTGAGTCCAGGGCTGGAGACAGATTTGGAAGCAGACATGTCTAGGTGTTCCTTTCCATGAGAGGCCCTTGAAAATGACCTGGCATTCTCTCAGCTTTCCTTTCTGTAACCTTTTCCCTCTTCCCTAGGCAAGAACAGCAAGTCCATTTCATTCCTCAGCCTACCTAGTCAGTTTTGAAAAATCTCATATTAAGTTGTGGTTTTATACTTGTATAGATCGCTGTTGATGGATGGCCATAAAGATAAGCACAGGCAACAGCAGGGTGGTGATCAATATTCCGAATCCCTCAAAGAATGTGGAAATTATGTCTACTATATTTTGAGAATGCATCAGTCTAGTAACAGTTGTTAGAAAATTAGTCCTAACATGTTTGATACATATGTTAATCCTTTAACCATACTGTGTCATTTGTGTTAGTCAAAATAACAAGCCGACATTCTTATAACAAAATAGAGTTTTCAAATCCTCCTAACCTTTTAAATCCCTATTACAGGCATTTATGGTTGGCAGGAAGTTGGCATCCCCCTTTTTACAGAGAGGGAAACTGAGGCTCACAGAGATTGCAGTTTGCCCAGGGTCTCTTAGCTGCTCCACCACAGAGCTGAGGCTAGAACCAAGCCTCTTGCCCCTATATTTTAGGACTGTTTTCACTATGATGGTTTTATCTTTTCAAACACTTTTATTTCTGTCTTTAGTGTCATACTGTGCTAAGTGCTATAATCTACACCAGCTCTGTTTCTGTCCTCTTAGATAAAACCTTGTAATTCCCATTACTAAGAAAATAACAGTCATTGATATTTTTCAACATCATGAAGCATTATCTGGGCTTGATATTACCCTGTATAAAGATATTTAGATGTAGATCTCAGCCTTCTGGGAGGTTACAAAATAAATAAGAATGACAAGAGACAGAATGCATGTTTTTCATGTTATTTTACCATGTGATGAGCAAGATTCATTGATAACTTTTAAGAAATGACAGGATAGAGGATGCACTGGCAAATTTTCAAGCTGTATTGAATTTATGCTGTATTACATATAATAATCTGGATGGTCTGGAGTAAGTGAGCAGGCATCATCTCTTTATTGTGGAGTTTTCAAACTTAAACAACATCGATGTAGACATATAGACCAGTGTTCTCAGATTATATTTCAGTGGAATCATGAGTAAAACCAGGAAGCTTTGTCACTAAAATCAATCTTGGTGGTCTTTTGTTTATTTTTAGAGATAAAAATGCAATGAGTAGATTATTTTTTCTCAATTTGAAGTTTTTTCTTATAACTTTTTCTTAATAACTTTCGTCTACTGGTGAACTCTACCAGACAAGAAAACCAGTGAACTGGTATAGCAAATATAATATTAATGGAAAAATTCAGACATGCAATATTTTTAGATGCAAAGAGCTGAATATTTATAAAATGTTATTTTTTTTGCCAGCAAAGTTGTTCCTTGTGTGTGTGAGATGGAAGTAAGTCTGTTAGTGTTTCGTGAGATTCCCCAGAGAACACCCTCACCAATACCTGGTTCACCTCCTGAACCAGTTTGAGAACAGCCAAGGTAGACACCTGAAAAAGCAATTAGTGGGCATTTGAATTAAGGAGGAAAAGCACATTAACTTGTTGAAACACAACTGTGAATTGTGTAGTATGGCCAAAAAGAAAAAAAGAAAAGCAGTAGAAATTTTGTGCTTAGTGCAACAAGATCTGAAAGCATTTTGTAAACTTCTGCCAACTTGTATAGTTCTTCAAGTAAAGGGAGTGGCTCTTTTCAAAGATGATTTCAGATGTCACCTGAGAGTTTGATTTCTGAGCTTGTTGGTGATGCTATGAAATTAACTAGGAGGTACTATGGAATTTAGGAATGTTGGGTGTTTTATAACTTTAGGTAGCTATACAAATCCAGTATTTTT 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Task1_train_5433 | A variant on Chromosome 2 in gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Schimke immuno-osseous dysplasia | TGTGGAGAAAAGGACATTCAGGATGTACTTTTTTTTTTTGAGATTTATCCATGTTGTTGTGTGTCTCGTTCCTTTTTAGTGTTCACTCCTTGGTTTTCCTTTTTTTTTTTTTTCTTTTTTGGTTATCTAGACCTGCAGATGTTCACTCCCTTTTAGTGCTAAATAACATCCCATTGTACATCATCTGTTCACTTGTTGATGGACATTTACCAACATATCCTTTTAGGAAAAATTTGAGACCCCTAAATCTGCAGAAATAGAAGGGTTAAATTATGCTGTTGCTGCATAATGACAAAGGGCCATTAAAAATGATATTTTAGAACACTTAACAATACAGTTTTACTTATAATGTGTTTTATTGGGGGAAAACAGGATATAAAACTTTTTATTTAAAAGATATATATACCATACACATCAAAAAAAGAGACAGGAAAAAGTAGATTGGTTAGATTACTAAATGTTTTTATTTTCCTTATCATGTTTATCACTAGCAAGAATAAATAAATGCCATTTAAAAGAAAATAACTAAACTAAACATGCAGTTACCATACAACACAACAATTGACTTTTGAGCATTTTTCTTTGGGAAATGAAAACTTAGGTTAACAGAAAAACTTGTACACACATGTTCATAGCAGCTTTATTTGTAGTAGCCCCAAACTGGAATCAACTCAGATGTCCTTCAACAGATGGATGGTGAAACTATGGTATATCCATACTGTGGGCTATTTCTCAACAATAAAAAGAAGAAAATTATTGATACAGGTAACAACTTGGATGAATCTCCAGAGAGTGCTGAATGCAAAGGCCCATTCCAAAAGGTTATATGCTGTGCAATTTATATAACATTTGTATAGCATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCAGGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCTGCCTCCCGGATTCAAGTGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTACAGGCGCACACCAGCACATCTGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTCCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCTGCCTTGGCCTCCCAGAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTATAGTGCATTCTTGAAAAAAAAAAAAAAAATTGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGGAACCACGCCTCTACTAAAAATACAGAAATTAGCCAGATGTGGTGGTGTGCGCCTGTAATCCCACCTAGTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCCAGGGGGCGGAGGTTGCCGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGAGTGACAAGAGTGAAACTTCATCTTAAAAAAGAAAAAGAAAAAAAATGTTTTTAGAAATTCAGGTCAGATTAGTGGCTATCAGGAGCTAAGGACCGTGGAAAGAGGAGGGAGGTAAAAGGATCCTTGCAATGTTGGAGTTGTTGAGTATCTTAACATTGGAGGTGAATATATGAAAACCTACACAGGTGATAAAATTGTGTAGAACACACACATACAGTAAAACAAGAAATCTGAAGATCAGTGGATTGTATAGAAGTCAGCATCCTGGCTGTGGTATTATACTATAGTTTTTATAGAATGTTACCACTGCAGGAAACTGGGCAAAGGCCTAAGAGGGATCTCTATTATTTCTTACAATGGCACCTGAGTATAAGCAGTCATCTCAATACCAATGTCAATTTGAAAAGAAAAGCTCTGAAGGCAGGGGCCTCTGCTGAGCTGGAACCTGGTTCTGTGCTGGAGCTGTGGCTGGGTGTGGTTTGCTGAGAAGCCCCCGGGGCTGTTGCCCACCTTGCTTCTGCCCCTTGTTCCTGCAGCACGTGCAGCACATCCGCATCGATGGCTCCACCTCATCAGCTGAGCGGGAGGACCTGTGCCAGCAGTTCCAACTGTCGGAGAGGCATGCTGTGGCCGTGCTGTCCATCACCGCTGCCAATATGGGCCTCACCTTCTCCTCGGCTGACCTGGTGGTGTTTGCTGAGCTGTTTTGGAACCCAGGGGTAAGAGACGCAGAAGACTCAGATACTCCCCAGGCATGCTCATGGCTGTGGGCAGGAAGCAGTGAGTGTCGGTCGGGGAAAGTGTGGTTTCCCTTTTATCCATTCATTATACTTCCCACAAGTCAGTTTTCACTTCCTTTAAGCACTTCTATGTTGATTGACTAGTCTCTTTTTTTCTTTTTTTGAGACAGAGTCTCTTATCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGTGTGAGCCACCACGCCAGGCGATTGGCTGTTTTCTAGATTTTCACAGCAACCTGTAGGATTATCGACTCCATTTTATCAACGGGAAGGTTGAAGTCTTCCAGGGCTAGAAGGAATCTTGACTTCATGTCTCATAGGAGGAAGTTAGGGCACCGAGAGCTCAAGGGGTGAGGCAGGACTGCACTGCCATAACTGAAGAGGGCACTTGGTGGCACCAGGTTGCAGCCCAGGCCTCACGTTCCAGCCTGTGCCCCCTTTAGTAGCCATCATTGTGAGCTGCTTTAACAATGGACCTCACACAGAGTGACAGCAGTGAGGGTTTCCTGGACACCACCACTGGCCTCACCTGACCAACTGAGGACAGAGATAAGACATTTGTTTGAACTCTTAAATTTTTCTGGTAATCTCCAGAAAAGTTATATCCCCTTTAATATTTATATAATATTTAATAATATTGTGGTTTTTATTGGCTACACATAAGAGACTACATTAATAATGGGTAGACCTTGAGGGTGTAGCCATTTTATACAAGAAATAATGCTCATGATGTTAGGTGGTTTTTTTTTTCTTTTGCTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGACTGCAGGGACTTACTGGCTCACTGCAGCCTTGATTTCCCGAGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCAGGGGACTACAGGTGCACGCCTCCATGCCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCACCATGTTGCTCAAGCTGTTCTGGAACTCCTGGGCTCAAGCAATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACATCCAGCCCTTAAGTATTTATTATAAGGCTTACCACTATATTAAACCACCACCCTATGCCCAAATCATGGATAGCCTCTCCCTTGTGTGTGATGTTTTTATTTATTTAGAAGATAACTTTTTATTTCATACAGTGAAGAAATGGAAGTGTGCAGGCCTCCATCACCAGCCCCTCCCCATGCAGCCTGATGGCAGAGCCTGTGCCTCTTCATTTGCAGCACCTAGCTCAGTGCCCAGCACTGAACAGCCACCTGCAGATCTTCTGCTTCAGATTCCAGTTCCCCAGCCAGGGCTGTTTTGGGTTCTCTCTTTTGTTAAAGTGGCAGGTCATTTGTAGGTCTGAGATGGTAAAGTGCAGGTTATTTCTAGGTCTGAGACAGTGAAGTGCTTTGAGGAGGGAGGGTTGTGGTGGGACTGGAAATGGGGTGGAGAGGAACCATACCTGCTATGGTGGATGGAACTGCTTCAGGCCTTTACCTGCCTGTCTCAATTCCTGGACACACAGGTGCTGATCCAGGCTGAGGACCGCGTGCACCGCATTGGACAGACCAGCTCCGTGGGCATTCACTACCTCGTGGCAAAGGGCACAGCTGATGACTACCTTTGGTATGGCTTGGTTGGGTGGCCTGGCAGTTGGAGTCGAGCAAGGGTGGAAACTGATGATATGTTTACTTTGCTCCCAAAGTGCTTCTGCTTTTGCTAAGTAAGGTCTTTAAGGATCTATAGAAAATTGACTAGTGATGCCCTCCTGCTTTCATC 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TGTGGAGAAAAGGACATTCAGGATGTACTTTTTTTTTTTGAGATTTATCCATGTTGTTGTGTGTCTCGTTCCTTTTTAGTGTTCACTCCTTGGTTTTCCTTTTTTTTTTTTTTCTTTTTTGGTTATCTAGACCTGCAGATGTTCACTCCCTTTTAGTGCTAAATAACATCCCATTGTACATCATCTGTTCACTTGTTGATGGACATTTACCAACATATCCTTTTAGGAAAAATTTGAGACCCCTAAATCTGCAGAAATAGAAGGGTTAAATTATGCTGTTGCTGCATAATGACAAAGGGCCATTAAAAATGATATTTTAGAACACTTAACAATACAGTTTTACTTATAATGTGTTTTATTGGGGGAAAACAGGATATAAAACTTTTTATTTAAAAGATATATATACCATACACATCAAAAAAAGAGACAGGAAAAAGTAGATTGGTTAGATTACTAAATGTTTTTATTTTCCTTATCATGTTTATCACTAGCAAGAATAAATAAATGCCATTTAAAAGAAAATAACTAAACTAAACATGCAGTTACCATACAACACAACAATTGACTTTTGAGCATTTTTCTTTGGGAAATGAAAACTTAGGTTAACAGAAAAACTTGTACACACATGTTCATAGCAGCTTTATTTGTAGTAGCCCCAAACTGGAATCAACTCAGATGTCCTTCAACAGATGGATGGTGAAACTATGGTATATCCATACTGTGGGCTATTTCTCAACAATAAAAAGAAGAAAATTATTGATACAGGTAACAACTTGGATGAATCTCCAGAGAGTGCTGAATGCAAAGGCCCATTCCAAAAGGTTATATGCTGTGCAATTTATATAACATTTGTATAGCATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCAGGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCTGCCTCCCGGATTCAAGTGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTACAGGCGCACACCAGCACATCTGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTCCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCTGCCTTGGCCTCCCAGAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTATAGTGCATTCTTGAAAAAAAAAAAAAAAATTGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGGAACCACGCCTCTACTAAAAATACAGAAATTAGCCAGATGTGGTGGTGTGCGCCTGTAATCCCACCTAGTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCCAGGGGGCGGAGGTTGCCGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGAGTGACAAGAGTGAAACTTCATCTTAAAAAAGAAAAAGAAAAAAAATGTTTTTAGAAATTCAGGTCAGATTAGTGGCTATCAGGAGCTAAGGACCGTGGAAAGAGGAGGGAGGTAAAAGGATCCTTGCAATGTTGGAGTTGTTGAGTATCTTAACATTGGAGGTGAATATATGAAAACCTACACAGGTGATAAAATTGTGTAGAACACACACATACAGTAAAACAAGAAATCTGAAGATCAGTGGATTGTATAGAAGTCAGCATCCTGGCTGTGGTATTATACTATAGTTTTTATAGAATGTTACCACTGCAGGAAACTGGGCAAAGGCCTAAGAGGGATCTCTATTATTTCTTACAATGGCACCTGAGTATAAGCAGTCATCTCAATACCAATGTCAATTTGAAAAGAAAAGCTCTGAAGGCAGGGGCCTCTGCTGAGCTGGAACCTGGTTCTGTGCTGGAGCTGTGGCTGGGTGTGGTTTGCTGAGAAGCCCCCGGGGCTGTTGCCCACCTTGCTTCTGCCCCTTGTTCCTGCAGCACGTGCAGCACATCCGCATCGATGGCTCCACCTCATCAGCTGAGCAGGAGGACCTGTGCCAGCAGTTCCAACTGTCGGAGAGGCATGCTGTGGCCGTGCTGTCCATCACCGCTGCCAATATGGGCCTCACCTTCTCCTCGGCTGACCTGGTGGTGTTTGCTGAGCTGTTTTGGAACCCAGGGGTAAGAGACGCAGAAGACTCAGATACTCCCCAGGCATGCTCATGGCTGTGGGCAGGAAGCAGTGAGTGTCGGTCGGGGAAAGTGTGGTTTCCCTTTTATCCATTCATTATACTTCCCACAAGTCAGTTTTCACTTCCTTTAAGCACTTCTATGTTGATTGACTAGTCTCTTTTTTTCTTTTTTTGAGACAGAGTCTCTTATCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGTGTGAGCCACCACGCCAGGCGATTGGCTGTTTTCTAGATTTTCACAGCAACCTGTAGGATTATCGACTCCATTTTATCAACGGGAAGGTTGAAGTCTTCCAGGGCTAGAAGGAATCTTGACTTCATGTCTCATAGGAGGAAGTTAGGGCACCGAGAGCTCAAGGGGTGAGGCAGGACTGCACTGCCATAACTGAAGAGGGCACTTGGTGGCACCAGGTTGCAGCCCAGGCCTCACGTTCCAGCCTGTGCCCCCTTTAGTAGCCATCATTGTGAGCTGCTTTAACAATGGACCTCACACAGAGTGACAGCAGTGAGGGTTTCCTGGACACCACCACTGGCCTCACCTGACCAACTGAGGACAGAGATAAGACATTTGTTTGAACTCTTAAATTTTTCTGGTAATCTCCAGAAAAGTTATATCCCCTTTAATATTTATATAATATTTAATAATATTGTGGTTTTTATTGGCTACACATAAGAGACTACATTAATAATGGGTAGACCTTGAGGGTGTAGCCATTTTATACAAGAAATAATGCTCATGATGTTAGGTGGTTTTTTTTTTCTTTTGCTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGACTGCAGGGACTTACTGGCTCACTGCAGCCTTGATTTCCCGAGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCAGGGGACTACAGGTGCACGCCTCCATGCCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCACCATGTTGCTCAAGCTGTTCTGGAACTCCTGGGCTCAAGCAATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACATCCAGCCCTTAAGTATTTATTATAAGGCTTACCACTATATTAAACCACCACCCTATGCCCAAATCATGGATAGCCTCTCCCTTGTGTGTGATGTTTTTATTTATTTAGAAGATAACTTTTTATTTCATACAGTGAAGAAATGGAAGTGTGCAGGCCTCCATCACCAGCCCCTCCCCATGCAGCCTGATGGCAGAGCCTGTGCCTCTTCATTTGCAGCACCTAGCTCAGTGCCCAGCACTGAACAGCCACCTGCAGATCTTCTGCTTCAGATTCCAGTTCCCCAGCCAGGGCTGTTTTGGGTTCTCTCTTTTGTTAAAGTGGCAGGTCATTTGTAGGTCTGAGATGGTAAAGTGCAGGTTATTTCTAGGTCTGAGACAGTGAAGTGCTTTGAGGAGGGAGGGTTGTGGTGGGACTGGAAATGGGGTGGAGAGGAACCATACCTGCTATGGTGGATGGAACTGCTTCAGGCCTTTACCTGCCTGTCTCAATTCCTGGACACACAGGTGCTGATCCAGGCTGAGGACCGCGTGCACCGCATTGGACAGACCAGCTCCGTGGGCATTCACTACCTCGTGGCAAAGGGCACAGCTGATGACTACCTTTGGTATGGCTTGGTTGGGTGGCCTGGCAGTTGGAGTCGAGCAAGGGTGGAAACTGATGATATGTTTACTTTGCTCCCAAAGTGCTTCTGCTTTTGCTAAGTAAGGTCTTTAAGGATCTATAGAAAATTGACTAGTGATGCCCTCCTGCTTTCATC 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Task1_train_5434 | A change on Chromosome 2 affects gene CATIP-AS2, CATIP (CATIP antisense RNA 2| ciliogenesis associated TTC17 interacting protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Spermatogenic failure 54 | TGGTTCCTCTTTGAAGTTTGTAGTAGATGGCGGTAGAAGAAATAGTGAAAGTCCTAAAGTCTTTGATCCTTCTTATAAGTGCATAGAAGAAAACGCTGATGTATGCTGCCGTCTCTCTCTCTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCTGTGATCATGTGACTTGCTTCACCTTGTCAATCACTTAGAAGACTCGCCCTCCTTACCGTGCCCCCTTGTCTTGTGTGCAATAAATATCAGCGCGCCCAGCCGTTCTGGGCCACTACCAGTCTCCATGTCTTGATGGTAGTGGTCTCCCGGGCCCAGCTGTTTTCTCTTTGTCTCTTTGTCTTGTGTCTTTATTTATTACAATCTCTCGTCTCCACACACAGGGAGAACACCCGCTAAGCCCCGTAGGGCTGGACTCTACAGGTGGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCTGGCAGGAGGAGGTTGCAGCTGAGATCATGCCACTGCATTCTAGCCTGGGTGACAGAGTGAGACTCTTTCTCAAAAATAATTAAAACAAACAAATAAATAAATAAAAATAATAAAAATAAAAATACAAAAATTAGCTGGGCATGGTGGCACACTCCTGTAGTTCCAGCTACTCAGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGACTGGCAACAGAGTGAGACTCTCTAAAAAAAAAAAAAAAAGCGCCTCACCAGGAATAAGTCCAGTCAAAGAGTTTGCTATGTTGTCATTGTTGTTATCATTATTGTTACATGTATTAGAACTGTAACTTGCAGAGATATTCATGTAGCAGCTAATTGGATAGTGTGCATTTGAGACTCTGTCTGACTTTCGTTCATATCTTCTAAGGTCATTTTTTTTTTTTTGAGACAGATTACAGGCATGTGCCACCACTCCCTGGTAATTTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTTGGCCAGGCTGGATCTCAAACTCCTGGCCTCAAGTGATCCACCTGCCTGGGACTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCTCTTCTAAGGTCATTCTAATGACCCATTTCTTCACTCTGCCTCTTAAGAATATCAAATGTGGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGAGGATCACGAGCTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGCGGTGGTGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACCTCAAGAAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGATGAGAATGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATTGCGTCTCAAAAAAGAAAAAAATATATATCAAATGCTCCCTCTGCTGGACAACACCTCAAGCTTGTGCTGAGCCCCAAACCTGCAGTGTCAGTTCCCTCCAAGGTCTGGGTGTAGTAAAGTGGGTTGATGGCCCTTTAAGAGGCACTGTCCAGCTCTGGTTGCCATGGAGACAGCTGGACACAGACCGGGTAGAGGCAGGCCCACAGCATGTCCTCCAAGGTTTACTCCACAGGTGGGAAGAGGACTGCTGGGGCTGGAGGCGGGGATCCTCTTCTTTCTTCCCAATCCACCCTCGGGGTAGTCTTAGAGGATTCTGTTCTTGGGTGCTGGGGCCAGGACTGAGGTACCCTGCCTTGCCTCCCTGACCCCTGCCCTTCTCCCCAGGGTCTGCCATCTTAGCCTCTCATCCCTCTGTAGGCTCCAGAGCTAAGGACCACCAGCCCTCGGGTCCGGAGTGTCTGCCACTCCCAGAGGCCAATGCTGAAGCCATCGACTTCCTCAGCTCCCTCCGTGAGCTCAGACAGTGTCGGGGTTGGGGGTGCGGGAGGGGTGCAAGTCTGGAGAGGAGGGAAGAAAGTCCAGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCCTTGATTCTCCTGGGACTCAGAAAAGGCCTGAGGCCTGTTTGTTGACATTCTTCAAGGGAAGGCCCCCCGGGGACATGGGGACATGGGGCAGGAGTCTTCACCTGTCCGTGCCAGTGAGGAAGGCTGTGGGATGAGGAGGCAGGTGGGGACTGTGGGGACACTGGTGGTCATGGGGTCAGAGGATTGGATTGGGGCCCAGGAGCAGGGGCTTTATCTGTTCCCACGGGCCCCTCACCCCAGACAAGGAGGAGCTACAGATGCTGTTCTTCTCTGAGACGCTGGCCATGGTCTCAGACACCGGGGAGCCTCAGGGAGAGCTGACCATTGAGGTGCAGAGAGGGAAATACCAGGAAAAACTCGGCATGCTGACATACTGCCTCTTCGTGCATGCCTCTAGCCGAGGCTTCTTGGACAAAATGCTCTGCGGAAATTCCCTCCTGGGTAGCGTTCCTACTGCCTGATGCCCGTCACTCTCCCCTTCCTCCAACCCTCCCCTCCACCAATTCCTAGAATCTTTTTTCAGGACCAAGCCCTTGGCTTTGCCTTGGACCAGGACAAGGCACGGGGTGGGAGAGGGATGAGCGAGTTCCTCATGGACTCGGGATGAGGGCACATCTTACCCATCCTGTAGTTTTTCTGGGACCGTATTACACCTAGTCCTCCAGCTGCGCCACCACCTTCCCTTCCTTCAGCCTCTGACCCACATCTCCTGTGACGTCAATGCCTGTGTCCCTGCACCCCAGGCTATCTCTCAGAGAAGCTGGAGCTCATGGAACAGCACAGCCAAGACTTCATCAAGGTACTTCCCAGGGCCCCAGCCTTGACCCAATCCAGGGGAGAGAAGACAGATTTTGACTTAAAAAACAGCAGCAACAACAAACCAAAAAACCTATTACATACACAGTGAAGCTGAAGAATAGCAATCGTGTTATGATGCAATGTAAAGCTCAAAAGCAACGCACTTCAGAAAACTGATTTTAAAACACGGGGGTGGGCTGGGCACAGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCACCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGCGAAACCTCATCTGTACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGATTGCCGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAGAAAAAAATTAAAAAACAATGAGGGTGGGCCAGGCACAATGGCTCAAGCCTATAATCCCAGCACTTTGGGAGGCCAAAGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGCCTGGGCAACATGGCAAAACCCACCAAAAATGTTTATAAATTTTGTACAAAAAATACAAAAAGTAGCTGGGTGTGGTAATGTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGAAGGTTCAGCGGAGCCCAGGAGGTCAAGACTGCAGTGAGCAATGTGCGTGCCACTGTACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAAAGAAGAAAAAAGATGTAGGTTGGGCACGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCGGGAGTTGAAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAACACAAAATTAGCCGGGCGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGATGCCGAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCTACCTCTACTAAAAATACAAAAAGAAAATTATCCAGGCATGGTGGTGGGCACCTG 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TGGTTCCTCTTTGAAGTTTGTAGTAGATGGCGGTAGAAGAAATAGTGAAAGTCCTAAAGTCTTTGATCCTTCTTATAAGTGCATAGAAGAAAACGCTGATGTATGCTGCCGTCTCTCTCTCTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCTGTGATCATGTGACTTGCTTCACCTTGTCAATCACTTAGAAGACTCGCCCTCCTTACCGTGCCCCCTTGTCTTGTGTGCAATAAATATCAGCGCGCCCAGCCGTTCTGGGCCACTACCAGTCTCCATGTCTTGATGGTAGTGGTCTCCCGGGCCCAGCTGTTTTCTCTTTGTCTCTTTGTCTTGTGTCTTTATTTATTACAATCTCTCGTCTCCACACACAGGGAGAACACCCGCTAAGCCCCGTAGGGCTGGACTCTACAGGTGGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCTGGCAGGAGGAGGTTGCAGCTGAGATCATGCCACTGCATTCTAGCCTGGGTGACAGAGTGAGACTCTTTCTCAAAAATAATTAAAACAAACAAATAAATAAATAAAAATAATAAAAATAAAAATACAAAAATTAGCTGGGCATGGTGGCACACTCCTGTAGTTCCAGCTACTCAGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGACTGGCAACAGAGTGAGACTCTCTAAAAAAAAAAAAAAAAGCGCCTCACCAGGAATAAGTCCAGTCAAAGAGTTTGCTATGTTGTCATTGTTGTTATCATTATTGTTACATGTATTAGAACTGTAACTTGCAGAGATATTCATGTAGCAGCTAATTGGATAGTGTGCATTTGAGACTCTGTCTGACTTTCGTTCATATCTTCTAAGGTCATTTTTTTTTTTTTGAGACAGATTACAGGCATGTGCCACCACTCCCTGGTAATTTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTTGGCCAGGCTGGATCTCAAACTCCTGGCCTCAAGTGATCCACCTGCCTGGGACTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCTCTTCTAAGGTCATTCTAATGACCCATTTCTTCACTCTGCCTCTTAAGAATATCAAATGTGGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGAGGATCACGAGCTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGCGGTGGTGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACCTCAAGAAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGATGAGAATGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATTGCGTCTCAAAAAAGAAAAAAATATATATCAAATGCTCCCTCTGCTGGACAACACCTCAAGCTTGTGCTGAGCCCCAAACCTGCAGTGTCAGTTCCCTCCAAGGTCTGGGTGTAGTAAAGTGGGTTGATGGCCCTTTAAGAGGCACTGTCCAGCTCTGGTTGCCATGGAGACAGCTGGACACAGACCGGGTAGAGGCAGGCCCACAGCATGTCCTCCAAGGTTTACTCCACAGGTGGGAAGAGGACTGCTGGGGCTGGAGGCGGGGATCCTCTTCTTTCTTCCCAATCCACCCTCGGGGTAGTCTTAGAGGATTCTGTTCTTGGGTGCTGGGGCCAGGACTGAGGTACCCTGCCTTGCCTCCCTGACCCCTGCCCTTCTCCCCAGGGTCTGCCATCTTAGCCTCTCATCCCTCTGTAGGCTCCAGAGCTAAGGACCACCAGCCCTCGGGTCCGGAGTGTCTGCCACTCCCAGAGGCCAATGCTGAAGCCATCGACATCCTCAGCTCCCTCCGTGAGCTCAGACAGTGTCGGGGTTGGGGGTGCGGGAGGGGTGCAAGTCTGGAGAGGAGGGAAGAAAGTCCAGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCCTTGATTCTCCTGGGACTCAGAAAAGGCCTGAGGCCTGTTTGTTGACATTCTTCAAGGGAAGGCCCCCCGGGGACATGGGGACATGGGGCAGGAGTCTTCACCTGTCCGTGCCAGTGAGGAAGGCTGTGGGATGAGGAGGCAGGTGGGGACTGTGGGGACACTGGTGGTCATGGGGTCAGAGGATTGGATTGGGGCCCAGGAGCAGGGGCTTTATCTGTTCCCACGGGCCCCTCACCCCAGACAAGGAGGAGCTACAGATGCTGTTCTTCTCTGAGACGCTGGCCATGGTCTCAGACACCGGGGAGCCTCAGGGAGAGCTGACCATTGAGGTGCAGAGAGGGAAATACCAGGAAAAACTCGGCATGCTGACATACTGCCTCTTCGTGCATGCCTCTAGCCGAGGCTTCTTGGACAAAATGCTCTGCGGAAATTCCCTCCTGGGTAGCGTTCCTACTGCCTGATGCCCGTCACTCTCCCCTTCCTCCAACCCTCCCCTCCACCAATTCCTAGAATCTTTTTTCAGGACCAAGCCCTTGGCTTTGCCTTGGACCAGGACAAGGCACGGGGTGGGAGAGGGATGAGCGAGTTCCTCATGGACTCGGGATGAGGGCACATCTTACCCATCCTGTAGTTTTTCTGGGACCGTATTACACCTAGTCCTCCAGCTGCGCCACCACCTTCCCTTCCTTCAGCCTCTGACCCACATCTCCTGTGACGTCAATGCCTGTGTCCCTGCACCCCAGGCTATCTCTCAGAGAAGCTGGAGCTCATGGAACAGCACAGCCAAGACTTCATCAAGGTACTTCCCAGGGCCCCAGCCTTGACCCAATCCAGGGGAGAGAAGACAGATTTTGACTTAAAAAACAGCAGCAACAACAAACCAAAAAACCTATTACATACACAGTGAAGCTGAAGAATAGCAATCGTGTTATGATGCAATGTAAAGCTCAAAAGCAACGCACTTCAGAAAACTGATTTTAAAACACGGGGGTGGGCTGGGCACAGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCACCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGCGAAACCTCATCTGTACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGATTGCCGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAGAAAAAAATTAAAAAACAATGAGGGTGGGCCAGGCACAATGGCTCAAGCCTATAATCCCAGCACTTTGGGAGGCCAAAGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGCCTGGGCAACATGGCAAAACCCACCAAAAATGTTTATAAATTTTGTACAAAAAATACAAAAAGTAGCTGGGTGTGGTAATGTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGAAGGTTCAGCGGAGCCCAGGAGGTCAAGACTGCAGTGAGCAATGTGCGTGCCACTGTACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAAAGAAGAAAAAAGATGTAGGTTGGGCACGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCGGGAGTTGAAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAACACAAAATTAGCCGGGCGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGATGCCGAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCTACCTCTACTAAAAATACAAAAAGAAAATTATCCAGGCATGGTGGTGGGCACCTG 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Task1_train_5435 | The gene CNOT9 (CCR4-NOT transcription complex subunit 9) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; See cases | GCTCAATTTTCTGACTGATAGTCATGCCTGGGAAAATGAGTAGAAAATGAGAAGATTAAATCTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAACTACTTCTCATCACAAAGCTTAATCTCTTTATAACTGGCATTGAACAACTTCAGTCCTCTGACTAGAACTAACAATTTTGGAACCTTTTATGATTCTTGGACTATCTGATCTCTGATGTCAATTAGAATTTGTTTGTGTTTTGTGTGTTTTTTCCAACCCCTCCCCTTATTTTGGGGGAAACAGGGTAAGATGGTCCTGCAGCTATCCAAAGAGCCTTCTGCCCGTCTGCTGAAGCATGTAGTGAGATGTTACCTTCGACTTTCAGATAACCCCAGGTAAACATTTATAGGATGTATAGGACTTTAGGGAAATACTCTGCTGAACAGTTTCCTAATCTCATGGCATAGCTCCTGTGTCTTTAGGACAGGGAAGTGGGGATATAACTGCATTTAGTTTGTCTGAGACAGAACTTAGATTCTTTTAAAAATCTGAAATGCTGAATTTTAGTAGCCATCAGTTTCATCTTCTCACTGTAACTCTCCATCCTACTGTGAAATTCCAGAGAGTCTAGGCGATTCCAAAGGAAACCTTATGATGCATTACTCCTGTTGTTTGAATTTTCTGTTGCTACTCTACGTGGTCAGAGAGAGAAGTATATTTTCAAAGATCTCTTAAAAAGGAACACAGCCCAGAGGGCTCTTGAATTCTATTTCCAATTCTGTCCTTGATTCCTATAAGTTTCTTGAGCTAATTATTTTATCTGCTTATGTTCATAATCTTTCTGCCAGAAATCATACACTGTAGATATAATGCATTTTAGAAATGTTTGACCTTTTGCTTTGTAAATCCATAATTCATGCTGAAAGCAACCTGCTCATATTCTGCTAAACCACGTAATGGAGCAATTTCTGTGTTCCTGGGAAGAGAGCTAGCTTGATTTGATTTAATGTGAACTCAGTCTCCTGCCACTGAGTTTATTCAAGCCCTACCTGTTTGTTGACCATTTTATCCTGTTCTTCAGTGGTTCTTGTTTCACTAAAGTTTAAAAATGTGTTTATTTAAAATTCTACTTGTACAAAGAAAACTAGTCTGAGTGCAAAAACTATAACTTTGTTTAAAATAGCTCTACACATAGTTAACATTTACCTTTTTTAGGTTTTCAGATTTGACTTTCTGCTGGTCATCTTTTCAAAGAAAATGAAACGTTTAAAAGTTCATCTGATAATACTGCTACCATAGTTTTGTTTTCACTGCTCATCTCTTATTAAGGTTTTTAACCATAAAACTGAAGCAATTTCTGTAAAGACACAAATTGATAACTTAGTATAGAATTAAAATTCATTAAGTTATCATAAGTTTGATGATATCCTTGTTAATGTACTGATTTTTGAATTATTTTATTTGCCATAATCCATATATTTCTAACATGAGTATTTTGACAGTATTTAATAAATCAGAAAGCTGTTTGAATGGAAGTAAACTATTGAACCTTTTAATTTTGCTTTTTCATGAAATTCTACATTGGGGCATCATTCAGAAAATATTTGTGGATACAGATTTTGGAGATCTCTAAGCCTATGCCTAATATAGCTTTAGAGAATTTTAATGGCTTCTTAAGGAGCCATAGATTCACAGTATTCTAAATATTTATGTCTAAGAAGGGGGCTCTTCCCTGTCCACAAAATGTGGGTTTATTTGTTGGTCTCCCTGGTTGGTTTGTTTGTTTCTGATGTAGGGCACGTGAAGCACTCAGACAGTGCCTCCCTGACCAGCTGAAAGACACAACCTTCGCCCAGGTGCTAAAAGATGACACCACCACGAAACGCTGGCTTGCACAACTGGTGAAGAACCTGCAAGAGGGCCAGGTCACCGATCCCCGGGGTATCCCCCTGCCCCCTCAGTGATCCTTCCCTGTTCCCTCCCACTACTCCCCCAAGTTGGGGAAAGGAGGGGGAACCTACGAGAAAAACAGCTCAGGTTTTATCACCGACTGGGAATAGACAACCTCAATGCTGAACCGCACTGGAGAAAAGGGGCAAGGTACCCCTGCTGAGGTGTATGGGCTGCCATCTCAGGCTGTCTTGAGGACCTGGGCTCCCTCTGCTACTCCCAGGAAATGGGCTCCTGACACAGCAGTCTGCCACCACAGCCCCAGGAGGGTGTCAACACCAGCAAATGCTGTATTTGCAGCATGTCCAAGATGACCCTTCTCCCCTACCTCTACCTAGCCACTGGCAGGGAGGGGAGACAGTGGTGATAGCAGCAGCACTCTAGGCATGGTGAACGCCTGGGACCAAGCCATGTGGCGTTTTTTATTTTGCCTTTCTGGAAGACTCAAGATATGTCTCTTCATTCTCTCTCAGTATTTGTTTACTTTGGTTTTTTTGTTTTTAATCTCAGAGAGAGGTGTGTTTAGTGGGCACAAGCTGTAATATTCAGCAAAACTTTGTCGACTGGCACTGTTTACAAGTCTGTTAGCTGCATAAGCTCAATAAAAAGTTGGTCTGGGCATTACATCCCCTCTGGCAGGCCAATAGCTGCATCAAGCTGTTGGGAGAAATGGGAGGGCAGGGGAAAGATGTAAAGCCAAAGTACAGCAGGAACCCACCACCTGTTTCCCTTCCTTCTCCCATTCTACTCCCAGTCCGGAATGCCACGAGGACCTTAACCTTGTTTCTGGCTTTAGCTGCTAGTTTTCCCAAATCTCAGTGCTTTCCCTTTTTGAACTTCCCTTCTATTAAACTTAAAACAGATGTCTTAATTAATCAGGCTGTCTTGGAAGGGTATTGTATTGGGAGACAAGGGGCGGTGGTGGACCTCACCTTCAATCCAAGTTTTCAAAGATATTTTCTCAATAACTCTAAAAGGGAGGTGCTTGGGATTAAGGTGACAGTCCACTTGATCCTTTTCTTTGTTTTAGTGTGAATTTCAGCAGCTCCATCTGTCTTCATGATTGTACTTGAGCAGTATTAGCTGTATGAGTTAATTTTATTCAGATTGAAGATGGAGGGCTGGGTTCTGCTCACTCAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGACCATTCTCTTTTAGTCTATGGGAATTACAGGGTTGCCGCTAAAATATTCACTTGTTCATATCGTGTCAGAGATTTCCTCTTCTCTGGAGCTTAGGTGGCTCTTCACAATCCATAGGCTTGAATCTGCAACCTAGTGTAAACTGCCTTGCTTTCCCCGGTTCTTTCCCCTGCTAGCACCTGCTTTCTCATCCCTATCTCCAGTCAAAGATGGGATTGCTTAATCCAACTCTGGAGAGGGACCAAGTCTTTTCTGCCCACATCTCACACAATTGAGGTGTCTGAACAAGCTTGGGGAGGGTCTATAAGGGGTAGGCTCAAAAAAAAAAAAACCCATTTGCAGAGGCAGTTTTGCCAACACAAGGGCTCTTTCAAGCCGACTTTCACAAAGAGAGCCGGACTTGTTAGTTGGCTTCTGTCTCTTTAGAGCCAAGAAAATAGTAATTAAGTGGCCTAGATATAGGAAGGGCAGAATAAGCACTTACTCCCCCTGCCTTCCAAGATGAAGAGGAGAAGCAGGCCAACCCTCAATAATTGCAAGCCTGAAGAGAAGTGATCTTAGAGAAAGCAGAGAACAGAATGGACTGGATAGACATCTTGACTCTATTCAGCCCGTAGTCTGTGATCTGGAGAGTCCAGTTAAGGTAACCCAGATTTTTGACAACCGCCTTCCTGCTGAGCCAAAGTTTTCTCATTACCCCTCCACTGGGGAAGCAGCTGAGGCCCAGGGCCTTGCTCCCTGGGAAATTCTCTTCTCTCCATCTTTCGGTGCATTGGCCATGTTACTGTGCCAAAGTGTCTTAATTCTTGTCCCATCTATTCTCAGCTGGCCTTGGAACCCACATAGGAGTTGGTGGGGGAGGGAT 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GCTCAATTTTCTGACTGATAGTCATGCCTGGGAAAATGAGTAGAAAATGAGAAGATTAAATCTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAACTACTTCTCATCACAAAGCTTAATCTCTTTATAACTGGCATTGAACAACTTCAGTCCTCTGACTAGAACTAACAATTTTGGAACCTTTTATGATTCTTGGACTATCTGATCTCTGATGTCAATTAGAATTTGTTTGTGTTTTGTGTGTTTTTTCCAACCCCTCCCCTTATTTTGGGGGAAACAGGGTAAGATGGTCCTGCAGCTATCCAAAGAGCCTTCTGCCCGTCTGCTGAAGCATGTAGTGAGATGTTACCTTCGACTTTCAGATAACCCCAGGTAAACATTTATAGGATGTATAGGACTTTAGGGAAATACTCTGCTGAACAGTTTCCTAATCTCATGGCATAGCTCCTGTGTCTTTAGGACAGGGAAGTGGGGATATAACTGCATTTAGTTTGTCTGAGACAGAACTTAGATTCTTTTAAAAATCTGAAATGCTGAATTTTAGTAGCCATCAGTTTCATCTTCTCACTGTAACTCTCCATCCTACTGTGAAATTCCAGAGAGTCTAGGCGATTCCAAAGGAAACCTTATGATGCATTACTCCTGTTGTTTGAATTTTCTGTTGCTACTCTACGTGGTCAGAGAGAGAAGTATATTTTCAAAGATCTCTTAAAAAGGAACACAGCCCAGAGGGCTCTTGAATTCTATTTCCAATTCTGTCCTTGATTCCTATAAGTTTCTTGAGCTAATTATTTTATCTGCTTATGTTCATAATCTTTCTGCCAGAAATCATACACTGTAGATATAATGCATTTTAGAAATGTTTGACCTTTTGCTTTGTAAATCCATAATTCATGCTGAAAGCAACCTGCTCATATTCTGCTAAACCACGTAATGGAGCAATTTCTGTGTTCCTGGGAAGAGAGCTAGCTTGATTTGATTTAATGTGAACTCAGTCTCCTGCCACTGAGTTTATTCAAGCCCTACCTGTTTGTTGACCATTTTATCCTGTTCTTCAGTGGTTCTTGTTTCACTAAAGTTTAAAAATGTGTTTATTTAAAATTCTACTTGTACAAAGAAAACTAGTCTGAGTGCAAAAACTATAACTTTGTTTAAAATAGCTCTACACATAGTTAACATTTACCTTTTTTAGGTTTTCAGATTTGACTTTCTGCTGGTCATCTTTTCAAAGAAAATGAAACGTTTAAAAGTTCATCTGATAATACTGCTACCATAGTTTTGTTTTCACTGCTCATCTCTTATTAAGGTTTTTAACCATAAAACTGAAGCAATTTCTGTAAAGACACAAATTGATAACTTAGTATAGAATTAAAATTCATTAAGTTATCATAAGTTTGATGATATCCTTGTTAATGTACTGATTTTTGAATTATTTTATTTGCCATAATCCATATATTTCTAACATGAGTATTTTGACAGTATTTAATAAATCAGAAAGCTGTTTGAATGGAAGTAAACTATTGAACCTTTTAATTTTGCTTTTTCATGAAATTCTACATTGGGGCATCATTCAGAAAATATTTGTGGATACAGATTTTGGAGATCTCTAAGCCTATGCCTAATATAGCTTTAGAGAATTTTAATGGCTTCTTAAGGAGCCATAGATTCACAGTATTCTAAATATTTATGTCTAAGAAGGGGGCTCTTCCCTGTCCACAAAATGTGGGTTTATTTGTTGGTCTCCCTGGTTGGTTTGTTTGTTTCTGATGTAGGGCACGTGAAGCACTCAGACAGTGCCTCCCTGACCAGCTGAAAGACACAACCTTCGCCCAGGTGCTAAAAGATGACACCACCACGAAACGCTGGCTTGCACAACTGGTGAAGAACCTGCAAGAGGGCCAGGTCACCGATCCCTGGGGTATCCCCCTGCCCCCTCAGTGATCCTTCCCTGTTCCCTCCCACTACTCCCCCAAGTTGGGGAAAGGAGGGGGAACCTACGAGAAAAACAGCTCAGGTTTTATCACCGACTGGGAATAGACAACCTCAATGCTGAACCGCACTGGAGAAAAGGGGCAAGGTACCCCTGCTGAGGTGTATGGGCTGCCATCTCAGGCTGTCTTGAGGACCTGGGCTCCCTCTGCTACTCCCAGGAAATGGGCTCCTGACACAGCAGTCTGCCACCACAGCCCCAGGAGGGTGTCAACACCAGCAAATGCTGTATTTGCAGCATGTCCAAGATGACCCTTCTCCCCTACCTCTACCTAGCCACTGGCAGGGAGGGGAGACAGTGGTGATAGCAGCAGCACTCTAGGCATGGTGAACGCCTGGGACCAAGCCATGTGGCGTTTTTTATTTTGCCTTTCTGGAAGACTCAAGATATGTCTCTTCATTCTCTCTCAGTATTTGTTTACTTTGGTTTTTTTGTTTTTAATCTCAGAGAGAGGTGTGTTTAGTGGGCACAAGCTGTAATATTCAGCAAAACTTTGTCGACTGGCACTGTTTACAAGTCTGTTAGCTGCATAAGCTCAATAAAAAGTTGGTCTGGGCATTACATCCCCTCTGGCAGGCCAATAGCTGCATCAAGCTGTTGGGAGAAATGGGAGGGCAGGGGAAAGATGTAAAGCCAAAGTACAGCAGGAACCCACCACCTGTTTCCCTTCCTTCTCCCATTCTACTCCCAGTCCGGAATGCCACGAGGACCTTAACCTTGTTTCTGGCTTTAGCTGCTAGTTTTCCCAAATCTCAGTGCTTTCCCTTTTTGAACTTCCCTTCTATTAAACTTAAAACAGATGTCTTAATTAATCAGGCTGTCTTGGAAGGGTATTGTATTGGGAGACAAGGGGCGGTGGTGGACCTCACCTTCAATCCAAGTTTTCAAAGATATTTTCTCAATAACTCTAAAAGGGAGGTGCTTGGGATTAAGGTGACAGTCCACTTGATCCTTTTCTTTGTTTTAGTGTGAATTTCAGCAGCTCCATCTGTCTTCATGATTGTACTTGAGCAGTATTAGCTGTATGAGTTAATTTTATTCAGATTGAAGATGGAGGGCTGGGTTCTGCTCACTCAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGACCATTCTCTTTTAGTCTATGGGAATTACAGGGTTGCCGCTAAAATATTCACTTGTTCATATCGTGTCAGAGATTTCCTCTTCTCTGGAGCTTAGGTGGCTCTTCACAATCCATAGGCTTGAATCTGCAACCTAGTGTAAACTGCCTTGCTTTCCCCGGTTCTTTCCCCTGCTAGCACCTGCTTTCTCATCCCTATCTCCAGTCAAAGATGGGATTGCTTAATCCAACTCTGGAGAGGGACCAAGTCTTTTCTGCCCACATCTCACACAATTGAGGTGTCTGAACAAGCTTGGGGAGGGTCTATAAGGGGTAGGCTCAAAAAAAAAAAAACCCATTTGCAGAGGCAGTTTTGCCAACACAAGGGCTCTTTCAAGCCGACTTTCACAAAGAGAGCCGGACTTGTTAGTTGGCTTCTGTCTCTTTAGAGCCAAGAAAATAGTAATTAAGTGGCCTAGATATAGGAAGGGCAGAATAAGCACTTACTCCCCCTGCCTTCCAAGATGAAGAGGAGAAGCAGGCCAACCCTCAATAATTGCAAGCCTGAAGAGAAGTGATCTTAGAGAAAGCAGAGAACAGAATGGACTGGATAGACATCTTGACTCTATTCAGCCCGTAGTCTGTGATCTGGAGAGTCCAGTTAAGGTAACCCAGATTTTTGACAACCGCCTTCCTGCTGAGCCAAAGTTTTCTCATTACCCCTCCACTGGGGAAGCAGCTGAGGCCCAGGGCCTTGCTCCCTGGGAAATTCTCTTCTCTCCATCTTTCGGTGCATTGGCCATGTTACTGTGCCAAAGTGTCTTAATTCTTGTCCCATCTATTCTCAGCTGGCCTTGGAACCCACATAGGAGTTGGTGGGGGAGGGAT 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Task1_train_5436 | This alteration in CNOT9 (CCR4-NOT transcription complex subunit 9) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; CNOT9-associated neurodevelopmental disorder | GCTCAATTTTCTGACTGATAGTCATGCCTGGGAAAATGAGTAGAAAATGAGAAGATTAAATCTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAACTACTTCTCATCACAAAGCTTAATCTCTTTATAACTGGCATTGAACAACTTCAGTCCTCTGACTAGAACTAACAATTTTGGAACCTTTTATGATTCTTGGACTATCTGATCTCTGATGTCAATTAGAATTTGTTTGTGTTTTGTGTGTTTTTTCCAACCCCTCCCCTTATTTTGGGGGAAACAGGGTAAGATGGTCCTGCAGCTATCCAAAGAGCCTTCTGCCCGTCTGCTGAAGCATGTAGTGAGATGTTACCTTCGACTTTCAGATAACCCCAGGTAAACATTTATAGGATGTATAGGACTTTAGGGAAATACTCTGCTGAACAGTTTCCTAATCTCATGGCATAGCTCCTGTGTCTTTAGGACAGGGAAGTGGGGATATAACTGCATTTAGTTTGTCTGAGACAGAACTTAGATTCTTTTAAAAATCTGAAATGCTGAATTTTAGTAGCCATCAGTTTCATCTTCTCACTGTAACTCTCCATCCTACTGTGAAATTCCAGAGAGTCTAGGCGATTCCAAAGGAAACCTTATGATGCATTACTCCTGTTGTTTGAATTTTCTGTTGCTACTCTACGTGGTCAGAGAGAGAAGTATATTTTCAAAGATCTCTTAAAAAGGAACACAGCCCAGAGGGCTCTTGAATTCTATTTCCAATTCTGTCCTTGATTCCTATAAGTTTCTTGAGCTAATTATTTTATCTGCTTATGTTCATAATCTTTCTGCCAGAAATCATACACTGTAGATATAATGCATTTTAGAAATGTTTGACCTTTTGCTTTGTAAATCCATAATTCATGCTGAAAGCAACCTGCTCATATTCTGCTAAACCACGTAATGGAGCAATTTCTGTGTTCCTGGGAAGAGAGCTAGCTTGATTTGATTTAATGTGAACTCAGTCTCCTGCCACTGAGTTTATTCAAGCCCTACCTGTTTGTTGACCATTTTATCCTGTTCTTCAGTGGTTCTTGTTTCACTAAAGTTTAAAAATGTGTTTATTTAAAATTCTACTTGTACAAAGAAAACTAGTCTGAGTGCAAAAACTATAACTTTGTTTAAAATAGCTCTACACATAGTTAACATTTACCTTTTTTAGGTTTTCAGATTTGACTTTCTGCTGGTCATCTTTTCAAAGAAAATGAAACGTTTAAAAGTTCATCTGATAATACTGCTACCATAGTTTTGTTTTCACTGCTCATCTCTTATTAAGGTTTTTAACCATAAAACTGAAGCAATTTCTGTAAAGACACAAATTGATAACTTAGTATAGAATTAAAATTCATTAAGTTATCATAAGTTTGATGATATCCTTGTTAATGTACTGATTTTTGAATTATTTTATTTGCCATAATCCATATATTTCTAACATGAGTATTTTGACAGTATTTAATAAATCAGAAAGCTGTTTGAATGGAAGTAAACTATTGAACCTTTTAATTTTGCTTTTTCATGAAATTCTACATTGGGGCATCATTCAGAAAATATTTGTGGATACAGATTTTGGAGATCTCTAAGCCTATGCCTAATATAGCTTTAGAGAATTTTAATGGCTTCTTAAGGAGCCATAGATTCACAGTATTCTAAATATTTATGTCTAAGAAGGGGGCTCTTCCCTGTCCACAAAATGTGGGTTTATTTGTTGGTCTCCCTGGTTGGTTTGTTTGTTTCTGATGTAGGGCACGTGAAGCACTCAGACAGTGCCTCCCTGACCAGCTGAAAGACACAACCTTCGCCCAGGTGCTAAAAGATGACACCACCACGAAACGCTGGCTTGCACAACTGGTGAAGAACCTGCAAGAGGGCCAGGTCACCGATCCCCGGGGTATCCCCCTGCCCCCTCAGTGATCCTTCCCTGTTCCCTCCCACTACTCCCCCAAGTTGGGGAAAGGAGGGGGAACCTACGAGAAAAACAGCTCAGGTTTTATCACCGACTGGGAATAGACAACCTCAATGCTGAACCGCACTGGAGAAAAGGGGCAAGGTACCCCTGCTGAGGTGTATGGGCTGCCATCTCAGGCTGTCTTGAGGACCTGGGCTCCCTCTGCTACTCCCAGGAAATGGGCTCCTGACACAGCAGTCTGCCACCACAGCCCCAGGAGGGTGTCAACACCAGCAAATGCTGTATTTGCAGCATGTCCAAGATGACCCTTCTCCCCTACCTCTACCTAGCCACTGGCAGGGAGGGGAGACAGTGGTGATAGCAGCAGCACTCTAGGCATGGTGAACGCCTGGGACCAAGCCATGTGGCGTTTTTTATTTTGCCTTTCTGGAAGACTCAAGATATGTCTCTTCATTCTCTCTCAGTATTTGTTTACTTTGGTTTTTTTGTTTTTAATCTCAGAGAGAGGTGTGTTTAGTGGGCACAAGCTGTAATATTCAGCAAAACTTTGTCGACTGGCACTGTTTACAAGTCTGTTAGCTGCATAAGCTCAATAAAAAGTTGGTCTGGGCATTACATCCCCTCTGGCAGGCCAATAGCTGCATCAAGCTGTTGGGAGAAATGGGAGGGCAGGGGAAAGATGTAAAGCCAAAGTACAGCAGGAACCCACCACCTGTTTCCCTTCCTTCTCCCATTCTACTCCCAGTCCGGAATGCCACGAGGACCTTAACCTTGTTTCTGGCTTTAGCTGCTAGTTTTCCCAAATCTCAGTGCTTTCCCTTTTTGAACTTCCCTTCTATTAAACTTAAAACAGATGTCTTAATTAATCAGGCTGTCTTGGAAGGGTATTGTATTGGGAGACAAGGGGCGGTGGTGGACCTCACCTTCAATCCAAGTTTTCAAAGATATTTTCTCAATAACTCTAAAAGGGAGGTGCTTGGGATTAAGGTGACAGTCCACTTGATCCTTTTCTTTGTTTTAGTGTGAATTTCAGCAGCTCCATCTGTCTTCATGATTGTACTTGAGCAGTATTAGCTGTATGAGTTAATTTTATTCAGATTGAAGATGGAGGGCTGGGTTCTGCTCACTCAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGACCATTCTCTTTTAGTCTATGGGAATTACAGGGTTGCCGCTAAAATATTCACTTGTTCATATCGTGTCAGAGATTTCCTCTTCTCTGGAGCTTAGGTGGCTCTTCACAATCCATAGGCTTGAATCTGCAACCTAGTGTAAACTGCCTTGCTTTCCCCGGTTCTTTCCCCTGCTAGCACCTGCTTTCTCATCCCTATCTCCAGTCAAAGATGGGATTGCTTAATCCAACTCTGGAGAGGGACCAAGTCTTTTCTGCCCACATCTCACACAATTGAGGTGTCTGAACAAGCTTGGGGAGGGTCTATAAGGGGTAGGCTCAAAAAAAAAAAAACCCATTTGCAGAGGCAGTTTTGCCAACACAAGGGCTCTTTCAAGCCGACTTTCACAAAGAGAGCCGGACTTGTTAGTTGGCTTCTGTCTCTTTAGAGCCAAGAAAATAGTAATTAAGTGGCCTAGATATAGGAAGGGCAGAATAAGCACTTACTCCCCCTGCCTTCCAAGATGAAGAGGAGAAGCAGGCCAACCCTCAATAATTGCAAGCCTGAAGAGAAGTGATCTTAGAGAAAGCAGAGAACAGAATGGACTGGATAGACATCTTGACTCTATTCAGCCCGTAGTCTGTGATCTGGAGAGTCCAGTTAAGGTAACCCAGATTTTTGACAACCGCCTTCCTGCTGAGCCAAAGTTTTCTCATTACCCCTCCACTGGGGAAGCAGCTGAGGCCCAGGGCCTTGCTCCCTGGGAAATTCTCTTCTCTCCATCTTTCGGTGCATTGGCCATGTTACTGTGCCAAAGTGTCTTAATTCTTGTCCCATCTATTCTCAGCTGGCCTTGGAACCCACATAGGAGTTGGTGGGGGAGGGAT 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GCTCAATTTTCTGACTGATAGTCATGCCTGGGAAAATGAGTAGAAAATGAGAAGATTAAATCTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAACTACTTCTCATCACAAAGCTTAATCTCTTTATAACTGGCATTGAACAACTTCAGTCCTCTGACTAGAACTAACAATTTTGGAACCTTTTATGATTCTTGGACTATCTGATCTCTGATGTCAATTAGAATTTGTTTGTGTTTTGTGTGTTTTTTCCAACCCCTCCCCTTATTTTGGGGGAAACAGGGTAAGATGGTCCTGCAGCTATCCAAAGAGCCTTCTGCCCGTCTGCTGAAGCATGTAGTGAGATGTTACCTTCGACTTTCAGATAACCCCAGGTAAACATTTATAGGATGTATAGGACTTTAGGGAAATACTCTGCTGAACAGTTTCCTAATCTCATGGCATAGCTCCTGTGTCTTTAGGACAGGGAAGTGGGGATATAACTGCATTTAGTTTGTCTGAGACAGAACTTAGATTCTTTTAAAAATCTGAAATGCTGAATTTTAGTAGCCATCAGTTTCATCTTCTCACTGTAACTCTCCATCCTACTGTGAAATTCCAGAGAGTCTAGGCGATTCCAAAGGAAACCTTATGATGCATTACTCCTGTTGTTTGAATTTTCTGTTGCTACTCTACGTGGTCAGAGAGAGAAGTATATTTTCAAAGATCTCTTAAAAAGGAACACAGCCCAGAGGGCTCTTGAATTCTATTTCCAATTCTGTCCTTGATTCCTATAAGTTTCTTGAGCTAATTATTTTATCTGCTTATGTTCATAATCTTTCTGCCAGAAATCATACACTGTAGATATAATGCATTTTAGAAATGTTTGACCTTTTGCTTTGTAAATCCATAATTCATGCTGAAAGCAACCTGCTCATATTCTGCTAAACCACGTAATGGAGCAATTTCTGTGTTCCTGGGAAGAGAGCTAGCTTGATTTGATTTAATGTGAACTCAGTCTCCTGCCACTGAGTTTATTCAAGCCCTACCTGTTTGTTGACCATTTTATCCTGTTCTTCAGTGGTTCTTGTTTCACTAAAGTTTAAAAATGTGTTTATTTAAAATTCTACTTGTACAAAGAAAACTAGTCTGAGTGCAAAAACTATAACTTTGTTTAAAATAGCTCTACACATAGTTAACATTTACCTTTTTTAGGTTTTCAGATTTGACTTTCTGCTGGTCATCTTTTCAAAGAAAATGAAACGTTTAAAAGTTCATCTGATAATACTGCTACCATAGTTTTGTTTTCACTGCTCATCTCTTATTAAGGTTTTTAACCATAAAACTGAAGCAATTTCTGTAAAGACACAAATTGATAACTTAGTATAGAATTAAAATTCATTAAGTTATCATAAGTTTGATGATATCCTTGTTAATGTACTGATTTTTGAATTATTTTATTTGCCATAATCCATATATTTCTAACATGAGTATTTTGACAGTATTTAATAAATCAGAAAGCTGTTTGAATGGAAGTAAACTATTGAACCTTTTAATTTTGCTTTTTCATGAAATTCTACATTGGGGCATCATTCAGAAAATATTTGTGGATACAGATTTTGGAGATCTCTAAGCCTATGCCTAATATAGCTTTAGAGAATTTTAATGGCTTCTTAAGGAGCCATAGATTCACAGTATTCTAAATATTTATGTCTAAGAAGGGGGCTCTTCCCTGTCCACAAAATGTGGGTTTATTTGTTGGTCTCCCTGGTTGGTTTGTTTGTTTCTGATGTAGGGCACGTGAAGCACTCAGACAGTGCCTCCCTGACCAGCTGAAAGACACAACCTTCGCCCAGGTGCTAAAAGATGACACCACCACGAAACGCTGGCTTGCACAACTGGTGAAGAACCTGCAAGAGGGCCAGGTCACCGATCCCTGGGGTATCCCCCTGCCCCCTCAGTGATCCTTCCCTGTTCCCTCCCACTACTCCCCCAAGTTGGGGAAAGGAGGGGGAACCTACGAGAAAAACAGCTCAGGTTTTATCACCGACTGGGAATAGACAACCTCAATGCTGAACCGCACTGGAGAAAAGGGGCAAGGTACCCCTGCTGAGGTGTATGGGCTGCCATCTCAGGCTGTCTTGAGGACCTGGGCTCCCTCTGCTACTCCCAGGAAATGGGCTCCTGACACAGCAGTCTGCCACCACAGCCCCAGGAGGGTGTCAACACCAGCAAATGCTGTATTTGCAGCATGTCCAAGATGACCCTTCTCCCCTACCTCTACCTAGCCACTGGCAGGGAGGGGAGACAGTGGTGATAGCAGCAGCACTCTAGGCATGGTGAACGCCTGGGACCAAGCCATGTGGCGTTTTTTATTTTGCCTTTCTGGAAGACTCAAGATATGTCTCTTCATTCTCTCTCAGTATTTGTTTACTTTGGTTTTTTTGTTTTTAATCTCAGAGAGAGGTGTGTTTAGTGGGCACAAGCTGTAATATTCAGCAAAACTTTGTCGACTGGCACTGTTTACAAGTCTGTTAGCTGCATAAGCTCAATAAAAAGTTGGTCTGGGCATTACATCCCCTCTGGCAGGCCAATAGCTGCATCAAGCTGTTGGGAGAAATGGGAGGGCAGGGGAAAGATGTAAAGCCAAAGTACAGCAGGAACCCACCACCTGTTTCCCTTCCTTCTCCCATTCTACTCCCAGTCCGGAATGCCACGAGGACCTTAACCTTGTTTCTGGCTTTAGCTGCTAGTTTTCCCAAATCTCAGTGCTTTCCCTTTTTGAACTTCCCTTCTATTAAACTTAAAACAGATGTCTTAATTAATCAGGCTGTCTTGGAAGGGTATTGTATTGGGAGACAAGGGGCGGTGGTGGACCTCACCTTCAATCCAAGTTTTCAAAGATATTTTCTCAATAACTCTAAAAGGGAGGTGCTTGGGATTAAGGTGACAGTCCACTTGATCCTTTTCTTTGTTTTAGTGTGAATTTCAGCAGCTCCATCTGTCTTCATGATTGTACTTGAGCAGTATTAGCTGTATGAGTTAATTTTATTCAGATTGAAGATGGAGGGCTGGGTTCTGCTCACTCAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGACCATTCTCTTTTAGTCTATGGGAATTACAGGGTTGCCGCTAAAATATTCACTTGTTCATATCGTGTCAGAGATTTCCTCTTCTCTGGAGCTTAGGTGGCTCTTCACAATCCATAGGCTTGAATCTGCAACCTAGTGTAAACTGCCTTGCTTTCCCCGGTTCTTTCCCCTGCTAGCACCTGCTTTCTCATCCCTATCTCCAGTCAAAGATGGGATTGCTTAATCCAACTCTGGAGAGGGACCAAGTCTTTTCTGCCCACATCTCACACAATTGAGGTGTCTGAACAAGCTTGGGGAGGGTCTATAAGGGGTAGGCTCAAAAAAAAAAAAACCCATTTGCAGAGGCAGTTTTGCCAACACAAGGGCTCTTTCAAGCCGACTTTCACAAAGAGAGCCGGACTTGTTAGTTGGCTTCTGTCTCTTTAGAGCCAAGAAAATAGTAATTAAGTGGCCTAGATATAGGAAGGGCAGAATAAGCACTTACTCCCCCTGCCTTCCAAGATGAAGAGGAGAAGCAGGCCAACCCTCAATAATTGCAAGCCTGAAGAGAAGTGATCTTAGAGAAAGCAGAGAACAGAATGGACTGGATAGACATCTTGACTCTATTCAGCCCGTAGTCTGTGATCTGGAGAGTCCAGTTAAGGTAACCCAGATTTTTGACAACCGCCTTCCTGCTGAGCCAAAGTTTTCTCATTACCCCTCCACTGGGGAAGCAGCTGAGGCCCAGGGCCTTGCTCCCTGGGAAATTCTCTTCTCTCCATCTTTCGGTGCATTGGCCATGTTACTGTGCCAAAGTGTCTTAATTCTTGTCCCATCTATTCTCAGCTGGCCTTGGAACCCACATAGGAGTTGGTGGGGGAGGGAT 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Task1_train_5437 | Here is a genetic alteration in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | TAGCGACCCAGGTTCCCACCTGCCTCTGGCTCTGACTCACCGCGTGGTCTTGGACAGACACAGTCGCTTCGCTTCTCTGGGCCTCAGCTTTCCTATCTGTAAAATGGAGGTGATGACAGTGTCCACATCGTCGGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAA 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TAGCGACCCAGGTTCCCACCTGCCTCTGGCTCTGACTCACCGCGTGGTCTTGGACAGACACAGTCGCTTCGCTTCTCTGGGCCTCAGCTTTCCTATCTGTAAAATGGAGGTGATGACAGTGTCCACATCGTCGGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGGTGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAA 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Task1_train_5438 | The gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Bjornstad syndrome with mild mitochondrial complex III deficiency | AATGGAGGTGATGACAGTGTCCACATCGTCGGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTG 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AATGGAGGTGATGACAGTGTCCACATCGTCGGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGCGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTG 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Task1_train_5439 | Given a variant located on Chromosome 2 and affecting BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Pili torti-deafness syndrome | GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTG 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GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGTGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTG 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Task1_train_5440 | This sequence variant lies in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTG 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GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGTGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTG 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Task1_train_5441 | A change on Chromosome 2 affects gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; GRACILE syndrome | GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTG 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GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGTGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTG 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Task1_train_5442 | Here is a genetic alteration in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Pili torti-deafness syndrome | GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTG 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GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGTGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTG 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Task1_train_5443 | With a mutation on Chromosome 2 in gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | CATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTAC 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CATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCGCACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTAC 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Task1_train_5444 | This gene mutation involves BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Pili torti-deafness syndrome | CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT 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CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCGGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT 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Task1_train_5445 | Consider a variant on Chromosome 2 in gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). Determine its clinical classification and disease relevance. | Pathogenic; GRACILE syndrome | CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT 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CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCGGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT 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Task1_train_5446 | A mutation in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT 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CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCGGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT 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Task1_train_5447 | Here’s a variant in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Pili torti-deafness syndrome | CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT 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CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCGGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT 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Task1_train_5448 | A variant was discovered in gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; GRACILE syndrome | CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT 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CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCGGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT 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Task1_train_5449 | This variant affects gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | ATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCT 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ATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCCAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCT 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Task1_train_5450 | A variant found in Chromosome 2 affects BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Leigh syndrome | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA 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GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACACCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA 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Task1_train_5451 | A variant was discovered on Chromosome 2, affecting BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA 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GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACACCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA 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Task1_train_5452 | Given a variant located on Chromosome 2 and affecting BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Pili torti-deafness syndrome | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA 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GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACACCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA 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Task1_train_5453 | A variant found in Chromosome 2 affects BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA 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GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACACCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA 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Task1_train_5454 | This variant affects gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; GRACILE syndrome | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA 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GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACACCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA 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Task1_train_5455 | This variant lies on Chromosome 2 and affects the gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pili torti-deafness syndrome | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA 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GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACACCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA 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Task1_train_5456 | Gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Pili torti-deafness syndrome | GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCT 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GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCCGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCT 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Task1_train_5457 | An alteration has been detected in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCT 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GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCCGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCT 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Task1_train_5458 | Gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; GRACILE syndrome | GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCT 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GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCCGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCT 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Task1_train_5459 | This mutation occurs in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | TATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCTGTCGCCAGG 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TATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCGGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCTGTCGCCAGG 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Task1_train_5460 | This gene mutation involves BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | CTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCTGTCGCCAGGGACCTCGACTGGGCTTGGGGGGATCTAGCATAGCTTTCTGGGTTTCGCCCAACCTTTGCTGATTTGACCTGGTCCCTGGAATCTTCTCACATATGTGCTGGGTCGCCACAGGCAGAGGAGGTGGCAAAGTGGATTGGACGGCTGGTGAGGTGGATAGTTCTGCTGCAAGGGTGCTGGGTGGTTGGGATCCTTTGGAGACATCTACAGCTGACTCAGGTTCCGCAGGGGCAGGAGGCTAGAAATAAGTGACAAGATGCAGTGAGGGAGATGCAGTTCCTCAAGGTGGGGAACTACAGGCCCCTCTCCTACTATCTGGGCTGACCACGATCAGCCTATCATCTTCCTGGTTAGAACAAAGCTCACTCTG 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CTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAACCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCTGTCGCCAGGGACCTCGACTGGGCTTGGGGGGATCTAGCATAGCTTTCTGGGTTTCGCCCAACCTTTGCTGATTTGACCTGGTCCCTGGAATCTTCTCACATATGTGCTGGGTCGCCACAGGCAGAGGAGGTGGCAAAGTGGATTGGACGGCTGGTGAGGTGGATAGTTCTGCTGCAAGGGTGCTGGGTGGTTGGGATCCTTTGGAGACATCTACAGCTGACTCAGGTTCCGCAGGGGCAGGAGGCTAGAAATAAGTGACAAGATGCAGTGAGGGAGATGCAGTTCCTCAAGGTGGGGAACTACAGGCCCCTCTCCTACTATCTGGGCTGACCACGATCAGCCTATCATCTTCCTGGTTAGAACAAAGCTCACTCTG 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Task1_train_5461 | Gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Pili torti-deafness syndrome | GACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCTGTCGCCAGGGACCTCGACTGGGCTTGGGGGGATCTAGCATAGCTTTCTGGGTTTCGCCCAACCTTTGCTGATTTGACCTGGTCCCTGGAATCTTCTCACATATGTGCTGGGTCGCCACAGGCAGAGGAGGTGGCAAAGTGGATTGGACGGCTGGTGAGGTGGATAGTTCTGCTGCAAGGGTGCTGGGTGGTTGGGATCCTTTGGAGACATCTACAGCTGACTCAGGTTCCGCAGGGGCAGGAGGCTAGAAATAAGTGACAAGATGCAGTGAGGGAGATGCAGTTCCTCAAGGTGGGGAACTACAGGCCCCTCTCCTACTATCTGGGCTGACCACGATCAGCCTATCATCTTCCTGGTTAGAACAAAGCTCACTCTGGGGCCATGGCTGATTGGGGTTTGTAGAAAGGTTGGTGGCATTACAGGACAACTGGGAAGCCCTTCCCTCACCTGCTGAAGGCTGATGAAGTATCGGTTTCGCTCAGCCTCAAGGTCAATGATTCCCCCCCGCTCCTGCTGCCTCTGGTAGAGCCGCTTGCGTTCTTCTTGCTGGCGCAAGCTCTCTGCACTGGGCTGGTACAGCTCCTGGAAGGAAGAATGGCAGAGAGGAAATAATGAACAGCAGAAGGCTGACTCAAACCTCTACTCCTCCC 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GACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGAACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCTGTCGCCAGGGACCTCGACTGGGCTTGGGGGGATCTAGCATAGCTTTCTGGGTTTCGCCCAACCTTTGCTGATTTGACCTGGTCCCTGGAATCTTCTCACATATGTGCTGGGTCGCCACAGGCAGAGGAGGTGGCAAAGTGGATTGGACGGCTGGTGAGGTGGATAGTTCTGCTGCAAGGGTGCTGGGTGGTTGGGATCCTTTGGAGACATCTACAGCTGACTCAGGTTCCGCAGGGGCAGGAGGCTAGAAATAAGTGACAAGATGCAGTGAGGGAGATGCAGTTCCTCAAGGTGGGGAACTACAGGCCCCTCTCCTACTATCTGGGCTGACCACGATCAGCCTATCATCTTCCTGGTTAGAACAAAGCTCACTCTGGGGCCATGGCTGATTGGGGTTTGTAGAAAGGTTGGTGGCATTACAGGACAACTGGGAAGCCCTTCCCTCACCTGCTGAAGGCTGATGAAGTATCGGTTTCGCTCAGCCTCAAGGTCAATGATTCCCCCCCGCTCCTGCTGCCTCTGGTAGAGCCGCTTGCGTTCTTCTTGCTGGCGCAAGCTCTCTGCACTGGGCTGGTACAGCTCCTGGAAGGAAGAATGGCAGAGAGGAAATAATGAACAGCAGAAGGCTGACTCAAACCTCTACTCCTCCC 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Task1_train_5462 | An alteration has been detected in CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cholestanol storage disease | TTCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGTCACCATGCCCGGTCCAGTAATCACTTTCACTAGTTTCTTATGTATCCATCCAGTATTTTTCTATGAAAGCAAATACAAATACTATATATTCTTATTTTAGACCTCCTTTCTTAGGCAAAAGATATACTTTTTCACATAATCTATCTTGGATATCTTTCTGTATTAGTACACAAGGAATTTCTTCATCCCTTTTTAAGGTGACATAGTATTTCATTATGTGGATATCTCATGCTTTGTTTATAAATTTGCTCGTACTTTTGTAAATATTAACAAATCGTCCTCCAAGTAGGGATGTGTTATTTTGGAGTCCTACCAGCAGTATATTTTCCTTCCAGGAAAATAGGCATATTCACTGCAGTTTGCAGACGATCAGCTGTTCAAAATTAGAACACACTGGCAGGTGTTCCTGGGAGGTAGAAATGGGAAACAGGTCTAAATGGATGTTAGGGGTTTGTCAAGACTGTCCTTCCAGGAACTGGCAGAATCAGCCATTTGTTCAAGGTGATGTCTGGGTATATGGGTGATATATTGGAGGCAATTATGTTGGATTGGTCCTAGGAGAATCCAGTTTTTAACACCAAAACTAAGATCCAGTAAAGTTGGAGTTTTTCTGGACTATGGGTTGGGTGACGTTTCCTTCTGTAATTTGAATGATAGATTTCATCTCCACAATTGGTAATGTCTCTTTTATAGAAGGTCTTTGGCCTAATTTCTATACTGGAACCGATTCTGATCCTCTCAAAATCTCTTCAGTAACTGATTAGGAAAGATGAAGTGCCCAGGAAACCACTGTGTTTCATTTTCTTTCAGTTTGTAGGTGTAACTTACCTAGGAAATATAGTCTTAGGATTTGTGGGTTATTTTAAATTTTTACCCCCCAAAACGTGTTTCTTTTCCTTCTCATTTTCAGCAACTATAAGACTATCATAGCAATGTCAATTTCATAGAGGCCGTGGATATCTATCGTCAAGTGCTTTAGAAATTCTAAGATAAAATATTTGAGAATTATATTACATAACATGGCCAGTACTTTTTTTTATTTCTTTTTTTGTCATGTTCTTAGATTTCAAAGACAAAATCATATGGAAGCTCAGGAAACTCATGGGAAATAAATAAATAAATAAATATCATACCGCATGGCTTACTTACTTATTTTTGGACCCTGACTTTCTCATCCAGCTTATTGTTTTTTCTGTTTTCTCATCAGTCTTCTTTTTTCTTGTTGATTACATAAGGCATTCATCATTTCATTGACAGCAAGCTGCAGTAGATTTAAATACAAAAAAAGGAGCTATAGGCTTTCTATCTCACCTCACTAAAGGGCTCAGTTTCCCTCAAATGCTGGCCTCCAACATACACCTCAACGTACCTCAGTTTGCCATATAGCCCATTTTTCCAAACTTTCACTCCTCCAAGGACCTCAATGCCTCCAGTTCCACCAGACACGCATTGCTCTAATATTCTAGCTCCTTGTGTGCCCATTTTTTAAATTTGCTCTTCCTCTGGAACAACAGGCCATCCTGGTGCCTACATCATACACAATGCCCTTTTTTTTTTTTTTTTTTTTTTGCCCAGCTCATTTGCTCTTGTGTAGCCATCAGACCCTTCCTCACCTCATCTCCTGTCCTGGGAGCACCTGCCCAGCTTGGCCCAGTTATTCAGTTTTGATTGAACTCCACAGGTGCTTTACAAGGCCAAGTACGGTCCAATGTGGATGTCCTACTTAGGGCCTCAGATGCACGTGAACCTGGCCAGTGCCCCGCTCTTGGAGCAAGTGATGCGGCAAGAGGGCAAGTACCCAGTACGGAACGACATGGAGCTATGGAAGGAGCACCGGGACCAGCACGACCTGACCTATGGGCCGTTCACCACGTGAGCTGGGGCCTGAAGGGACTGGAACAGGGCCCCAGAGGGCCAGGGCGAAAGACAGTGGGCACAGGGCAGGCAGGTGGATAACCGGCAGAATAGTACCCTCTGCATCCTCTGAGCCTGATGGTCTAGAGAGCAGTTGTTGGGAGGTGCTGAAGCCCAGGGACCATTCATTGGCTCTCCACTAATAAATATTAGGTTGGTGCAAAAGTCATTGTGGTTTTCACCATTTAAAATTATGGCAAAAACCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGTTCAGGGGTTCGAGATCAGCTTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAGAAAAAAAAAAAAACTTTTTAACTTGACATCTGCCACTGAGGGTAAGATTTAGGTTGCAGGTTTTCACTGGGCCAGGCCACCTATGACATGACAGCTCAGATTTAGAATCGGAGCTAAACATTATGTAGAGCCCTTTGTAATCTATTTACATTTTTTTCTCTAAAGCCAGTTTCCTGAATAGATGATATCATATGCATGCATTTAAAAGCTCTTTTGTGAATCTTTGAGTCAGATGACTGGGGAAAAAAAGCTATTCTGCTAACTCATGATAAGTTTGGGGTTCTCAAATTTTTGTTTTAACATATATATTTTTAAAATATCATTTTATGAAGCATTGTTTCCTCCAAGTGATTTTTTAACAACCACGTTTAAGTTCTGTATATCCGATTCCTACTGTTGAGAGAGTTTTACTTTTGGAACAACGTGAAGTCCCAACAAATAGGTCTATTCTGGTTTTCATTTCTTTTTCAGCAACACTTTCAGTTTATCTTTTTGCAATTTTCCCTTAACATAATAAAGGCAGCTCCTGGGGTGGGGTGTTGAAGGTCATTAAAGAAAAAATATATATTAAAAAAAATTTGACTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGACTCTACTAAAAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGTGGGTGACAGAGCGAGACTCTGTCTCAAACAAAACAAAACAAAACAAACAAAAATACAACTTTATTGGTTTTAAAAATTCAAAAGTAATACTCACCGTGGAAATTCCAATAATAAAATATGAAGTCTCTTGCCCTTCCACCCCTATTGCATCCTCCTTAGCAACCAGTACTGACAGTTTGTTGTGTATTCTCCCCTCTTTATCCAGGAGCATGCAAATATACATGTGGATAGGTAGGATTTTGTCTCCTCTTAAAATTGGACCATATTGTACTTATTGCTCTACAGCTAGCCTTTTAAAAAAATGGACTCATACCCAGCTTGCTTAGGAAAGGAAATAGGTTTGAGGAACAGCTGGGAGTGGGGGCAGTCCCTGGACATTAATCTTGCTTATGGAAAGTATGTTTCCACCCACGTGAGCACCCTTGCCTAACCAAGGAGGAGGCCTGACCACCTACCTTGCCTAACCAGGGAGGGGGCCTGACCATCTACCGCATGACTGAGGCAAGAGCCTACAGCATCAGCCTCGTGGGCCTCCCTGTCCCTCTGACCCACTGAGCCAAGCAGAGCATGAAGGCTTAGAGCCTGAGCACTCCGGGAACCCTAACTTGGTCCTCCTTTATTCCTCAGCCTCTGCAGCTCCCCCTTATTTGACATATGGAAGATTCCAGAGCTGTATAATTCCAAGATAATCAGTCAAT 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TTCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGTCACCATGCCCGGTCCAGTAATCACTTTCACTAGTTTCTTATGTATCCATCCAGTATTTTTCTATGAAAGCAAATACAAATACTATATATTCTTATTTTAGACCTCCTTTCTTAGGCAAAAGATATACTTTTTCACATAATCTATCTTGGATATCTTTCTGTATTAGTACACAAGGAATTTCTTCATCCCTTTTTAAGGTGACATAGTATTTCATTATGTGGATATCTCATGCTTTGTTTATAAATTTGCTCGTACTTTTGTAAATATTAACAAATCGTCCTCCAAGTAGGGATGTGTTATTTTGGAGTCCTACCAGCAGTATATTTTCCTTCCAGGAAAATAGGCATATTCACTGCAGTTTGCAGACGATCAGCTGTTCAAAATTAGAACACACTGGCAGGTGTTCCTGGGAGGTAGAAATGGGAAACAGGTCTAAATGGATGTTAGGGGTTTGTCAAGACTGTCCTTCCAGGAACTGGCAGAATCAGCCATTTGTTCAAGGTGATGTCTGGGTATATGGGTGATATATTGGAGGCAATTATGTTGGATTGGTCCTAGGAGAATCCAGTTTTTAACACCAAAACTAAGATCCAGTAAAGTTGGAGTTTTTCTGGACTATGGGTTGGGTGACGTTTCCTTCTGTAATTTGAATGATAGATTTCATCTCCACAATTGGTAATGTCTCTTTTATAGAAGGTCTTTGGCCTAATTTCTATACTGGAACCGATTCTGATCCTCTCAAAATCTCTTCAGTAACTGATTAGGAAAGATGAAGTGCCCAGGAAACCACTGTGTTTCATTTTCTTTCAGTTTGTAGGTGTAACTTACCTAGGAAATATAGTCTTAGGATTTGTGGGTTATTTTAAATTTTTACCCCCCAAAACGTGTTTCTTTTCCTTCTCATTTTCAGCAACTATAAGACTATCATAGCAATGTCAATTTCATAGAGGCCGTGGATATCTATCGTCAAGTGCTTTAGAAATTCTAAGATAAAATATTTGAGAATTATATTACATAACATGGCCAGTACTTTTTTTTATTTCTTTTTTTGTCATGTTCTTAGATTTCAAAGACAAAATCATATGGAAGCTCAGGAAACTCATGGGAAATAAATAAATAAATAAATATCATACCGCATGGCTTACTTACTTATTTTTGGACCCTGACTTTCTCATCCAGCTTATTGTTTTTTCTGTTTTCTCATCAGTCTTCTTTTTTCTTGTTGATTACATAAGGCATTCATCATTTCATTGACAGCAAGCTGCAGTAGATTTAAATACAAAAAAAGGAGCTATAGGCTTTCTATCTCACCTCACTAAAGGGCTCAGTTTCCCTCAAATGCTGGCCTCCAACATACACCTCAACGTACCTCAGTTTGCCATATAGCCCATTTTTCCAAACTTTCACTCCTCCAAGGACCTCAATGCCTCCAGTTCCACCAGACACGCATTGCTCTAATATTCTAGCTCCTTGTGTGCCCATTTTTTAAATTTGCTCTTCCTCTGGAACAACAGGCCATCCTGGTGCCTACATCATACACAATGCCCTTTTTTTTTTTTTTTTTTTTTTGCCCAGCTCATTTGCTCTTGTGTAGCCATCAGACCCTTCCTCACCTCATCTCCTGTCCTGGGAGCACCTGCCCAGCTTGGCCCAGTTATTCAGTTTTGATTGAACTCCACAGGTGCTTTACAAGGCCAAGTACGGTCCAATGTGGATGTCCTACTTAGGGCCTCAGATGCACGTGAACCTGGCCAGTGCCCCGCTCTTGGAGCAAGTGATGCGGCAAGAGGGCAAGTACCCAGTACGGAACGACATGGAGCTATGGAAGGAGCACCGGGACCAGCACGACCTGACCTATAGGCCGTTCACCACGTGAGCTGGGGCCTGAAGGGACTGGAACAGGGCCCCAGAGGGCCAGGGCGAAAGACAGTGGGCACAGGGCAGGCAGGTGGATAACCGGCAGAATAGTACCCTCTGCATCCTCTGAGCCTGATGGTCTAGAGAGCAGTTGTTGGGAGGTGCTGAAGCCCAGGGACCATTCATTGGCTCTCCACTAATAAATATTAGGTTGGTGCAAAAGTCATTGTGGTTTTCACCATTTAAAATTATGGCAAAAACCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGTTCAGGGGTTCGAGATCAGCTTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAGAAAAAAAAAAAAACTTTTTAACTTGACATCTGCCACTGAGGGTAAGATTTAGGTTGCAGGTTTTCACTGGGCCAGGCCACCTATGACATGACAGCTCAGATTTAGAATCGGAGCTAAACATTATGTAGAGCCCTTTGTAATCTATTTACATTTTTTTCTCTAAAGCCAGTTTCCTGAATAGATGATATCATATGCATGCATTTAAAAGCTCTTTTGTGAATCTTTGAGTCAGATGACTGGGGAAAAAAAGCTATTCTGCTAACTCATGATAAGTTTGGGGTTCTCAAATTTTTGTTTTAACATATATATTTTTAAAATATCATTTTATGAAGCATTGTTTCCTCCAAGTGATTTTTTAACAACCACGTTTAAGTTCTGTATATCCGATTCCTACTGTTGAGAGAGTTTTACTTTTGGAACAACGTGAAGTCCCAACAAATAGGTCTATTCTGGTTTTCATTTCTTTTTCAGCAACACTTTCAGTTTATCTTTTTGCAATTTTCCCTTAACATAATAAAGGCAGCTCCTGGGGTGGGGTGTTGAAGGTCATTAAAGAAAAAATATATATTAAAAAAAATTTGACTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGACTCTACTAAAAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGTGGGTGACAGAGCGAGACTCTGTCTCAAACAAAACAAAACAAAACAAACAAAAATACAACTTTATTGGTTTTAAAAATTCAAAAGTAATACTCACCGTGGAAATTCCAATAATAAAATATGAAGTCTCTTGCCCTTCCACCCCTATTGCATCCTCCTTAGCAACCAGTACTGACAGTTTGTTGTGTATTCTCCCCTCTTTATCCAGGAGCATGCAAATATACATGTGGATAGGTAGGATTTTGTCTCCTCTTAAAATTGGACCATATTGTACTTATTGCTCTACAGCTAGCCTTTTAAAAAAATGGACTCATACCCAGCTTGCTTAGGAAAGGAAATAGGTTTGAGGAACAGCTGGGAGTGGGGGCAGTCCCTGGACATTAATCTTGCTTATGGAAAGTATGTTTCCACCCACGTGAGCACCCTTGCCTAACCAAGGAGGAGGCCTGACCACCTACCTTGCCTAACCAGGGAGGGGGCCTGACCATCTACCGCATGACTGAGGCAAGAGCCTACAGCATCAGCCTCGTGGGCCTCCCTGTCCCTCTGACCCACTGAGCCAAGCAGAGCATGAAGGCTTAGAGCCTGAGCACTCCGGGAACCCTAACTTGGTCCTCCTTTATTCCTCAGCCTCTGCAGCTCCCCCTTATTTGACATATGGAAGATTCCAGAGCTGTATAATTCCAAGATAATCAGTCAAT 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Task1_train_5463 | With a mutation on Chromosome 2 in gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cholestanol storage disease | TCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGTCACCATGCCCGGTCCAGTAATCACTTTCACTAGTTTCTTATGTATCCATCCAGTATTTTTCTATGAAAGCAAATACAAATACTATATATTCTTATTTTAGACCTCCTTTCTTAGGCAAAAGATATACTTTTTCACATAATCTATCTTGGATATCTTTCTGTATTAGTACACAAGGAATTTCTTCATCCCTTTTTAAGGTGACATAGTATTTCATTATGTGGATATCTCATGCTTTGTTTATAAATTTGCTCGTACTTTTGTAAATATTAACAAATCGTCCTCCAAGTAGGGATGTGTTATTTTGGAGTCCTACCAGCAGTATATTTTCCTTCCAGGAAAATAGGCATATTCACTGCAGTTTGCAGACGATCAGCTGTTCAAAATTAGAACACACTGGCAGGTGTTCCTGGGAGGTAGAAATGGGAAACAGGTCTAAATGGATGTTAGGGGTTTGTCAAGACTGTCCTTCCAGGAACTGGCAGAATCAGCCATTTGTTCAAGGTGATGTCTGGGTATATGGGTGATATATTGGAGGCAATTATGTTGGATTGGTCCTAGGAGAATCCAGTTTTTAACACCAAAACTAAGATCCAGTAAAGTTGGAGTTTTTCTGGACTATGGGTTGGGTGACGTTTCCTTCTGTAATTTGAATGATAGATTTCATCTCCACAATTGGTAATGTCTCTTTTATAGAAGGTCTTTGGCCTAATTTCTATACTGGAACCGATTCTGATCCTCTCAAAATCTCTTCAGTAACTGATTAGGAAAGATGAAGTGCCCAGGAAACCACTGTGTTTCATTTTCTTTCAGTTTGTAGGTGTAACTTACCTAGGAAATATAGTCTTAGGATTTGTGGGTTATTTTAAATTTTTACCCCCCAAAACGTGTTTCTTTTCCTTCTCATTTTCAGCAACTATAAGACTATCATAGCAATGTCAATTTCATAGAGGCCGTGGATATCTATCGTCAAGTGCTTTAGAAATTCTAAGATAAAATATTTGAGAATTATATTACATAACATGGCCAGTACTTTTTTTTATTTCTTTTTTTGTCATGTTCTTAGATTTCAAAGACAAAATCATATGGAAGCTCAGGAAACTCATGGGAAATAAATAAATAAATAAATATCATACCGCATGGCTTACTTACTTATTTTTGGACCCTGACTTTCTCATCCAGCTTATTGTTTTTTCTGTTTTCTCATCAGTCTTCTTTTTTCTTGTTGATTACATAAGGCATTCATCATTTCATTGACAGCAAGCTGCAGTAGATTTAAATACAAAAAAAGGAGCTATAGGCTTTCTATCTCACCTCACTAAAGGGCTCAGTTTCCCTCAAATGCTGGCCTCCAACATACACCTCAACGTACCTCAGTTTGCCATATAGCCCATTTTTCCAAACTTTCACTCCTCCAAGGACCTCAATGCCTCCAGTTCCACCAGACACGCATTGCTCTAATATTCTAGCTCCTTGTGTGCCCATTTTTTAAATTTGCTCTTCCTCTGGAACAACAGGCCATCCTGGTGCCTACATCATACACAATGCCCTTTTTTTTTTTTTTTTTTTTTTGCCCAGCTCATTTGCTCTTGTGTAGCCATCAGACCCTTCCTCACCTCATCTCCTGTCCTGGGAGCACCTGCCCAGCTTGGCCCAGTTATTCAGTTTTGATTGAACTCCACAGGTGCTTTACAAGGCCAAGTACGGTCCAATGTGGATGTCCTACTTAGGGCCTCAGATGCACGTGAACCTGGCCAGTGCCCCGCTCTTGGAGCAAGTGATGCGGCAAGAGGGCAAGTACCCAGTACGGAACGACATGGAGCTATGGAAGGAGCACCGGGACCAGCACGACCTGACCTATGGGCCGTTCACCACGTGAGCTGGGGCCTGAAGGGACTGGAACAGGGCCCCAGAGGGCCAGGGCGAAAGACAGTGGGCACAGGGCAGGCAGGTGGATAACCGGCAGAATAGTACCCTCTGCATCCTCTGAGCCTGATGGTCTAGAGAGCAGTTGTTGGGAGGTGCTGAAGCCCAGGGACCATTCATTGGCTCTCCACTAATAAATATTAGGTTGGTGCAAAAGTCATTGTGGTTTTCACCATTTAAAATTATGGCAAAAACCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGTTCAGGGGTTCGAGATCAGCTTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAGAAAAAAAAAAAAACTTTTTAACTTGACATCTGCCACTGAGGGTAAGATTTAGGTTGCAGGTTTTCACTGGGCCAGGCCACCTATGACATGACAGCTCAGATTTAGAATCGGAGCTAAACATTATGTAGAGCCCTTTGTAATCTATTTACATTTTTTTCTCTAAAGCCAGTTTCCTGAATAGATGATATCATATGCATGCATTTAAAAGCTCTTTTGTGAATCTTTGAGTCAGATGACTGGGGAAAAAAAGCTATTCTGCTAACTCATGATAAGTTTGGGGTTCTCAAATTTTTGTTTTAACATATATATTTTTAAAATATCATTTTATGAAGCATTGTTTCCTCCAAGTGATTTTTTAACAACCACGTTTAAGTTCTGTATATCCGATTCCTACTGTTGAGAGAGTTTTACTTTTGGAACAACGTGAAGTCCCAACAAATAGGTCTATTCTGGTTTTCATTTCTTTTTCAGCAACACTTTCAGTTTATCTTTTTGCAATTTTCCCTTAACATAATAAAGGCAGCTCCTGGGGTGGGGTGTTGAAGGTCATTAAAGAAAAAATATATATTAAAAAAAATTTGACTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGACTCTACTAAAAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGTGGGTGACAGAGCGAGACTCTGTCTCAAACAAAACAAAACAAAACAAACAAAAATACAACTTTATTGGTTTTAAAAATTCAAAAGTAATACTCACCGTGGAAATTCCAATAATAAAATATGAAGTCTCTTGCCCTTCCACCCCTATTGCATCCTCCTTAGCAACCAGTACTGACAGTTTGTTGTGTATTCTCCCCTCTTTATCCAGGAGCATGCAAATATACATGTGGATAGGTAGGATTTTGTCTCCTCTTAAAATTGGACCATATTGTACTTATTGCTCTACAGCTAGCCTTTTAAAAAAATGGACTCATACCCAGCTTGCTTAGGAAAGGAAATAGGTTTGAGGAACAGCTGGGAGTGGGGGCAGTCCCTGGACATTAATCTTGCTTATGGAAAGTATGTTTCCACCCACGTGAGCACCCTTGCCTAACCAAGGAGGAGGCCTGACCACCTACCTTGCCTAACCAGGGAGGGGGCCTGACCATCTACCGCATGACTGAGGCAAGAGCCTACAGCATCAGCCTCGTGGGCCTCCCTGTCCCTCTGACCCACTGAGCCAAGCAGAGCATGAAGGCTTAGAGCCTGAGCACTCCGGGAACCCTAACTTGGTCCTCCTTTATTCCTCAGCCTCTGCAGCTCCCCCTTATTTGACATATGGAAGATTCCAGAGCTGTATAATTCCAAGATAATCAGTCAATA 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TCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGTCACCATGCCCGGTCCAGTAATCACTTTCACTAGTTTCTTATGTATCCATCCAGTATTTTTCTATGAAAGCAAATACAAATACTATATATTCTTATTTTAGACCTCCTTTCTTAGGCAAAAGATATACTTTTTCACATAATCTATCTTGGATATCTTTCTGTATTAGTACACAAGGAATTTCTTCATCCCTTTTTAAGGTGACATAGTATTTCATTATGTGGATATCTCATGCTTTGTTTATAAATTTGCTCGTACTTTTGTAAATATTAACAAATCGTCCTCCAAGTAGGGATGTGTTATTTTGGAGTCCTACCAGCAGTATATTTTCCTTCCAGGAAAATAGGCATATTCACTGCAGTTTGCAGACGATCAGCTGTTCAAAATTAGAACACACTGGCAGGTGTTCCTGGGAGGTAGAAATGGGAAACAGGTCTAAATGGATGTTAGGGGTTTGTCAAGACTGTCCTTCCAGGAACTGGCAGAATCAGCCATTTGTTCAAGGTGATGTCTGGGTATATGGGTGATATATTGGAGGCAATTATGTTGGATTGGTCCTAGGAGAATCCAGTTTTTAACACCAAAACTAAGATCCAGTAAAGTTGGAGTTTTTCTGGACTATGGGTTGGGTGACGTTTCCTTCTGTAATTTGAATGATAGATTTCATCTCCACAATTGGTAATGTCTCTTTTATAGAAGGTCTTTGGCCTAATTTCTATACTGGAACCGATTCTGATCCTCTCAAAATCTCTTCAGTAACTGATTAGGAAAGATGAAGTGCCCAGGAAACCACTGTGTTTCATTTTCTTTCAGTTTGTAGGTGTAACTTACCTAGGAAATATAGTCTTAGGATTTGTGGGTTATTTTAAATTTTTACCCCCCAAAACGTGTTTCTTTTCCTTCTCATTTTCAGCAACTATAAGACTATCATAGCAATGTCAATTTCATAGAGGCCGTGGATATCTATCGTCAAGTGCTTTAGAAATTCTAAGATAAAATATTTGAGAATTATATTACATAACATGGCCAGTACTTTTTTTTATTTCTTTTTTTGTCATGTTCTTAGATTTCAAAGACAAAATCATATGGAAGCTCAGGAAACTCATGGGAAATAAATAAATAAATAAATATCATACCGCATGGCTTACTTACTTATTTTTGGACCCTGACTTTCTCATCCAGCTTATTGTTTTTTCTGTTTTCTCATCAGTCTTCTTTTTTCTTGTTGATTACATAAGGCATTCATCATTTCATTGACAGCAAGCTGCAGTAGATTTAAATACAAAAAAAGGAGCTATAGGCTTTCTATCTCACCTCACTAAAGGGCTCAGTTTCCCTCAAATGCTGGCCTCCAACATACACCTCAACGTACCTCAGTTTGCCATATAGCCCATTTTTCCAAACTTTCACTCCTCCAAGGACCTCAATGCCTCCAGTTCCACCAGACACGCATTGCTCTAATATTCTAGCTCCTTGTGTGCCCATTTTTTAAATTTGCTCTTCCTCTGGAACAACAGGCCATCCTGGTGCCTACATCATACACAATGCCCTTTTTTTTTTTTTTTTTTTTTTGCCCAGCTCATTTGCTCTTGTGTAGCCATCAGACCCTTCCTCACCTCATCTCCTGTCCTGGGAGCACCTGCCCAGCTTGGCCCAGTTATTCAGTTTTGATTGAACTCCACAGGTGCTTTACAAGGCCAAGTACGGTCCAATGTGGATGTCCTACTTAGGGCCTCAGATGCACGTGAACCTGGCCAGTGCCCCGCTCTTGGAGCAAGTGATGCGGCAAGAGGGCAAGTACCCAGTACGGAACGACATGGAGCTATGGAAGGAGCACCGGGACCAGCACGACCTGACCTATGAGCCGTTCACCACGTGAGCTGGGGCCTGAAGGGACTGGAACAGGGCCCCAGAGGGCCAGGGCGAAAGACAGTGGGCACAGGGCAGGCAGGTGGATAACCGGCAGAATAGTACCCTCTGCATCCTCTGAGCCTGATGGTCTAGAGAGCAGTTGTTGGGAGGTGCTGAAGCCCAGGGACCATTCATTGGCTCTCCACTAATAAATATTAGGTTGGTGCAAAAGTCATTGTGGTTTTCACCATTTAAAATTATGGCAAAAACCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGTTCAGGGGTTCGAGATCAGCTTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAGAAAAAAAAAAAAACTTTTTAACTTGACATCTGCCACTGAGGGTAAGATTTAGGTTGCAGGTTTTCACTGGGCCAGGCCACCTATGACATGACAGCTCAGATTTAGAATCGGAGCTAAACATTATGTAGAGCCCTTTGTAATCTATTTACATTTTTTTCTCTAAAGCCAGTTTCCTGAATAGATGATATCATATGCATGCATTTAAAAGCTCTTTTGTGAATCTTTGAGTCAGATGACTGGGGAAAAAAAGCTATTCTGCTAACTCATGATAAGTTTGGGGTTCTCAAATTTTTGTTTTAACATATATATTTTTAAAATATCATTTTATGAAGCATTGTTTCCTCCAAGTGATTTTTTAACAACCACGTTTAAGTTCTGTATATCCGATTCCTACTGTTGAGAGAGTTTTACTTTTGGAACAACGTGAAGTCCCAACAAATAGGTCTATTCTGGTTTTCATTTCTTTTTCAGCAACACTTTCAGTTTATCTTTTTGCAATTTTCCCTTAACATAATAAAGGCAGCTCCTGGGGTGGGGTGTTGAAGGTCATTAAAGAAAAAATATATATTAAAAAAAATTTGACTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGACTCTACTAAAAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGTGGGTGACAGAGCGAGACTCTGTCTCAAACAAAACAAAACAAAACAAACAAAAATACAACTTTATTGGTTTTAAAAATTCAAAAGTAATACTCACCGTGGAAATTCCAATAATAAAATATGAAGTCTCTTGCCCTTCCACCCCTATTGCATCCTCCTTAGCAACCAGTACTGACAGTTTGTTGTGTATTCTCCCCTCTTTATCCAGGAGCATGCAAATATACATGTGGATAGGTAGGATTTTGTCTCCTCTTAAAATTGGACCATATTGTACTTATTGCTCTACAGCTAGCCTTTTAAAAAAATGGACTCATACCCAGCTTGCTTAGGAAAGGAAATAGGTTTGAGGAACAGCTGGGAGTGGGGGCAGTCCCTGGACATTAATCTTGCTTATGGAAAGTATGTTTCCACCCACGTGAGCACCCTTGCCTAACCAAGGAGGAGGCCTGACCACCTACCTTGCCTAACCAGGGAGGGGGCCTGACCATCTACCGCATGACTGAGGCAAGAGCCTACAGCATCAGCCTCGTGGGCCTCCCTGTCCCTCTGACCCACTGAGCCAAGCAGAGCATGAAGGCTTAGAGCCTGAGCACTCCGGGAACCCTAACTTGGTCCTCCTTTATTCCTCAGCCTCTGCAGCTCCCCCTTATTTGACATATGGAAGATTCCAGAGCTGTATAATTCCAAGATAATCAGTCAATA 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Task1_train_5464 | Here is a genetic alteration in CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cholestanol storage disease | CCACTCTGCTATAGCGAGATTCTGGTTTGGGGATTCTAAGATTCTGTCACTTGAGATTTTGGTGATTCTATAATTCTAAATTCTAGGAGTATGGGATTTCCCTTGACTCTGGATGGAGGGGGTGGTGGACTTCAGGGTGAGAAGATCTCCCTTAATTGAACCCCCATAGAGGCTTATCTTTGTGCTGTTCCTCTGCGTCCCTGCAGGGAAGGACACCACTGGTACCAGCTGCGCCAGGCTCTGAACCAGCGGTTGCTGAAGCCAGCGGAAGCAGCGCTCTATACGGATGCTTTCAATGAGGTGATTGATGACTTTATGACTCGACTGGACCAGCTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGG 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CCACTCTGCTATAGCGAGATTCTGGTTTGGGGATTCTAAGATTCTGTCACTTGAGATTTTGGTGATTCTATAATTCTAAATTCTAGGAGTATGGGATTTCCCTTGACTCTGGATGGAGGGGGTGGTGGACTTCAGGGTGAGAAGATCTCCCTTAATTGAACCCCCATAGAGGCTTATCTTTGTGCTGTTCCTCTGCGTCCCTGCAGGGAAGGACACCACTGGTACCAGCTGCGCCAGGCTCTGAACCAGCGGTTGCTGAAGCCAGCGGAAGCAGCGCTCTATACGGATGCTTTCAATGAGGTGATTGATGACTTTATGACTCGACTGGACCAGCTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGGCCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGG 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Task1_train_5465 | The gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cholestanol storage disease | CTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGA 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CTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCGCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGA 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Task1_train_5466 | A mutation found in CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cholestanol storage disease | GAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGT | GAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCTGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGT 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Task1_train_5467 | Given a variant located on Chromosome 2 and affecting CYP27A1 (cytochrome P450 family 27 subfamily A member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cardiovascular phenotype | GAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGT 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GAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCTGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGT 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Task1_train_5468 | A variant found in Chromosome 2 affects CYP27A1 (cytochrome P450 family 27 subfamily A member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not specified | GACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATG 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GACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGATGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATG 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Task1_train_5469 | Here is a variant affecting CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cholestanol storage disease | ATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATGATAGGGTTTGAACTCATTTAAAAAATTGTGTCATTGCCCGGATTAAAATACTCCACAACTGCCCTCAGCCCTCAGGTCAAGTTCAAAGTTGTTACTGTGGCTCATAAGACCTACCGTGCCCTGGCACCCTGCACCCTGACCGTGGTCACCCTTTCACAGCTGAGCCTGAATTCTTTGCATGTCTCTGAACACATTATGTTCTTTCCAGCCTCAATACTTTGTACCTCCTGTCCCCACTCTTGGAACACCC 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ATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGTCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATGATAGGGTTTGAACTCATTTAAAAAATTGTGTCATTGCCCGGATTAAAATACTCCACAACTGCCCTCAGCCCTCAGGTCAAGTTCAAAGTTGTTACTGTGGCTCATAAGACCTACCGTGCCCTGGCACCCTGCACCCTGACCGTGGTCACCCTTTCACAGCTGAGCCTGAATTCTTTGCATGTCTCTGAACACATTATGTTCTTTCCAGCCTCAATACTTTGTACCTCCTGTCCCCACTCTTGGAACACCC 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Task1_train_5470 | A genetic alteration is present in CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cholestanol storage disease | ACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATGATAGGGTTTGAACTCATTTAAAAAATTGTGTCATTGCCCGGATTAAAATACTCCACAACTGCCCTCAGCCCTCAGGTCAAGTTCAAAGTTGTTACTGTGGCTCATAAGACCTACCGTGCCCTGGCACCCTGCACCCTGACCGTGGTCACCCTTTCACAGCTGAGCCTGAATTCTTTGCATGTCTCTGAACACATTATGTTCTTTCCAGCCTCAATACTTTGTACCTCCTGTCCCCACTCTTGGAACACCCTCTTCCCTAACTGTCATGT 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ACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCAGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATGATAGGGTTTGAACTCATTTAAAAAATTGTGTCATTGCCCGGATTAAAATACTCCACAACTGCCCTCAGCCCTCAGGTCAAGTTCAAAGTTGTTACTGTGGCTCATAAGACCTACCGTGCCCTGGCACCCTGCACCCTGACCGTGGTCACCCTTTCACAGCTGAGCCTGAATTCTTTGCATGTCTCTGAACACATTATGTTCTTTCCAGCCTCAATACTTTGTACCTCCTGTCCCCACTCTTGGAACACCCTCTTCCCTAACTGTCATGT 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Task1_train_5471 | This genomic variant is located on Chromosome 2, within the CYP27A1 (cytochrome P450 family 27 subfamily A member 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; CYP27A1-related disorder | ACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATGATAGGGTTTGAACTCATTTAAAAAATTGTGTCATTGCCCGGATTAAAATACTCCACAACTGCCCTCAGCCCTCAGGTCAAGTTCAAAGTTGTTACTGTGGCTCATAAGACCTACCGTGCCCTGGCACCCTGCACCCTGACCGTGGTCACCCTTTCACAGCTGAGCCTGAATTCTTTGCATGTCTCTGAACACATTATGTTCTTTCCAGCCTCAATACTTTGTACCTCCTGTCCCCACTCTTGGAACACCCTCTTCCCTAACTGTCATGT 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ACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCAGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATGATAGGGTTTGAACTCATTTAAAAAATTGTGTCATTGCCCGGATTAAAATACTCCACAACTGCCCTCAGCCCTCAGGTCAAGTTCAAAGTTGTTACTGTGGCTCATAAGACCTACCGTGCCCTGGCACCCTGCACCCTGACCGTGGTCACCCTTTCACAGCTGAGCCTGAATTCTTTGCATGTCTCTGAACACATTATGTTCTTTCCAGCCTCAATACTTTGTACCTCCTGTCCCCACTCTTGGAACACCCTCTTCCCTAACTGTCATGT 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Task1_train_5472 | The gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cholestanol storage disease | ACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATGATAGGGTTTGAACTCATTTAAAAAATTGTGTCATTGCCCGGATTAAAATACTCCACAACTGCCCTCAGCCCTCAGGTCAAGTTCAAAGTTGTTACTGTGGCTCATAAGACCTACCGTGCCCTGGCACCCTGCACCCTGACCGTGGTCACCCTTTCACAGCTGAGCCTGAATTCTTTGCATGTCTCTGAACACATTATGTTCTTTCCAGCCTCAATACTTTGTACCTCCTGTCCCCACTCTTGGAACACCCTCTTCCCTAACTGTCATGTCATCACAGAGAGCT 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ACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCAGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATGATAGGGTTTGAACTCATTTAAAAAATTGTGTCATTGCCCGGATTAAAATACTCCACAACTGCCCTCAGCCCTCAGGTCAAGTTCAAAGTTGTTACTGTGGCTCATAAGACCTACCGTGCCCTGGCACCCTGCACCCTGACCGTGGTCACCCTTTCACAGCTGAGCCTGAATTCTTTGCATGTCTCTGAACACATTATGTTCTTTCCAGCCTCAATACTTTGTACCTCCTGTCCCCACTCTTGGAACACCCTCTTCCCTAACTGTCATGTCATCACAGAGAGCT 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Task1_train_5473 | The gene WNT10A (Wnt family member 10A) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Tooth agenesis, selective, 4 | TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCATGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC 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TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCTTGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC 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Task1_train_5474 | Gene WNT10A (Wnt family member 10A) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Odonto-onycho-dermal dysplasia | TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCATGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC | TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCTTGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC 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Task1_train_5475 | A variant affecting Chromosome 2, within the gene WNT10A (Wnt family member 10A), has been observed. Determine if it's benign or associated with disease. | Pathogenic; SchC6pf-Schulz-Passarge syndrome | TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCATGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC 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TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCTTGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC 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Task1_train_5476 | A mutation in WNT10A (Wnt family member 10A), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Tooth agenesis, selective, 4 | TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCATGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC 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TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCTTGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC 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Task1_train_5477 | Assess the clinical impact of this variant on gene WNT10A (Wnt family member 10A), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Odonto-onycho-dermal dysplasia | TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCATGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC 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TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCTTGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC 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Task1_train_5478 | A variant has been detected on Chromosome 2 in WNT10A (Wnt family member 10A). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Odonto-onycho-dermal dysplasia | AGGCTGGTTGGAGACTTGTACCAGAACTTGTTCCTAGCTGGTCCATTCTCAGATGCAGAATAAGCAAAAGATAGCTTGCATGTCTGAGAATGGGACCCTCCTTTGCAAGTAGGCCTCCCCCTGCCACAGGTCCAGGTGTTCCCAGAGAATGGCTCAGGTTGGAGCACCAAGAAGGAAGGCAGTGTGGACAAGCCAGTGGCCAGGCCGGCCTAGCCGCGGCCCCCAAGAGTGGCTTGGTCAGGGAAAATCTGTGCCTCCTGAACATCTGGTGGAAGGTATCTGCCTCAGCTTGCCCTTCCTTCTCCATGTTCAACACTACTACATGCCAGACCCCATGCAGGACCCTGGGCTTCCCTCTAGCGTACCTCCAACAGCCTCTGCAGCTGACCTGGGTGGGTCACAGGCAAGGTGGCTGGGTAGCGCCCATTTCTGAGTGGCTTTCAGGGATGTCCTGTGGACAAGCAAGGGGAAGCTCTGGTGACCCATTTCTTTGCCTCTGGAGTCTGGTCATTAGGGAGGATCCTATGCTGTGCCTAAGATGGGCACGCACCCAGCAGGCTATCTTGGGGCAGGGAGCATTAGGAGCTGACCGTCTCCTCTTACTTACTCTGCTGCCCACTGACATCTCCTAAGGCCTGGAATTTCATCATTGACAATTTATTCTCTTTTTTTCCAAAATTGTGTACATTTTATTTTATGAAATATCATTTTATTTATTTATTTATTTATTTCAATAGGTTTCTGGGGAACAGATGGTGTTTGGTTACATGAATAAGTTCTTTCGTGGTGATTTCTGAGATTTTGGTGCACCCATCACCCAAGCAGTGTACACTGCACCCAATGTGTAGTCTTTGATCTGTCACCTCACACCCAACCTTTCCCCAAGTCCCCAAAGTCCATTGTGTCATTCTTATGCCTTTGCATCCTCATGGCTTAGCTTCCACTTATAAGTGAGAACATACGATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTCTCAAATTCCATCCAGGTTGCTGTGAATGCCATTATTTTGTTCCTTTTTATGGCTGAGGAGTATTCCATGGCATATTTATACTGCAATTTCTTTATCCACTTGTTGGTTGATGGGCATTTGGGCTGGTACCATATTTTTGCAATTACAAATTGTACTGCTGTAAACATGCGTGTGCAAGTATCTTTTTCGTATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGGATTACTGGATCAAATGGTAGTTCTACTTTTAGTTCTTTGAGGAATCTCCACACTGTTTTCCATAGTGGTTGTACTAGTTTACATTCCCACCAGCAACATCACTGGCAATGAATTCTTTAGCTTAAATGTTGCCCTCATTCTGTGGGCTTATTTTAAAATTGCAGATACCACTGTGAGAGGTAATAGATTAAGTCCCTGATTGTAAAAAGAATGTGTTTACCTGATACTTTCTGCTCTACAGTAGAGATGTAGACACACAAATTCTGAGTTTGCTAAAGGTGATGTTAAAGAACAGGAGAAGGGCGTACAAAAAGCAGAGGGCTATTGGGAAGCCTCCCTCCCACCCCACCAGGTTCTGTTTGCAGAAGAACTGGCTTCTGGCGTGATTTCTGCCCTTCTTTGACTCTGTTTCCTTGTGCCAGACTCTCCTGCATACTGGGCTTCAGTTTCTCCTTGGAATGATGAGAAAGGTGGGCTGGAGAATGGGGTGTCAAGGCCCCTCCAGAGTCCATGTGTTCTGGGTCTTTAACCACAGGTTTCCGAGAGAGCGCTTTTGCCTACGCCATCGCAGCAGCTGGCGTGGTGCACGCCGTGTCCAATGCGTGTGCCCTGGGCAAACTGAAGGCCTGTGGCTGTGATGCGTCCCGGCGAGGGGACGAGGAGGCCTTCCGTAGGAAGCTGCACCGCTTACAACTGGATGCACTGCAGCGTGGTAAGGGCCTGAGCCATGGGGTCCCGGAACACCCAGCCCTGCCCACAGCCAGCCCAGGCCTGCAGGACTCCTGGGAGTGGGGCGGCTGCAGCCCCGACATGGGCTTCGGGGAGCGCTTTTCTAAGGACTTTCTGGACTCCCGGGAGCCTCACAGAGACATCCACGCGAGAATGAGGCTTCACAACAACCGAGTTGGGAGGCAGGTGAGAGCCCCACCCCTGGGTCTGCTTCAAATCTCTTTGCCTAGGGCCTACCCCTTGCCCTGGCCTACCTCTCTTCTGAGGACCACGTTGCTCCCACATGTCACACCTTGGCAATCTTCTCGTTGACCCTGTCTAATTCAACAAACATGCACTGAGTATGCACTGTGCACCAGGCACTGGACTAGGCCTGGGGATACAGGGCAGAAACAAGCCCTGTTGCCCTGGATCAGCATACCACCTGCTGAGCAACCTGCTTCTCCTACTTCCTCGGGTGATCACCCAGGAGAAAGGACAGGGGTGCAGTCAGGACTTCAGGAGTCTAGGCCTGGAGCTCCCATCTGACTCCTCCCCTATAGAGTGACAAGGTTGAACTAGATCATCCCTAAGGTTCCCCCCAATGCTAATGTTCCATGATCCAGTGATCTCTCCCAGCCTTTCTGTGCAGTCTAGAATGAGGGATTCCTGCAAAGTAAGGGGTGTAAGTGAAGTTCCTAGGGGCCACTGGGGAACTGTGTTATGGTGCCTTTCTCCTTTATCCTCTGTCCTCAAATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCATCTTGACTTAGAGGCGGGGTAAACTGAGGCACACTTACCCTTGGGTCATGTCCAGCTCCCACCCAGCCTGCCCTGTACAGCTCTTTTCCCAAGCCTCACCGCCATCCCAGCCCATACCAACGGTGCCTCCTCCTCCTCCTCCTCGTTAAACTGGTTAATTAATGGCTGCTGCCCGTGGGAAGCAGATGTTCTGGAGCTGTTGGCCTGGGGAGGCATTGGTCTGGTTCCCACGTGGTGCTGACAGCACAGGCTGCGCATGCACGCTGTGGAGCCCTTTCAGACCTCGAGGGGAAGGCGCCCTCTCTTATGGCCCTACTGCCCAAGTTTAAGGGCCCTGGATCATTGCCGTCCCTGTCTCAGGGTGTGTTTTCGGAGTGGACTGAGGGAAAGGAGGGGATGTGGCCAACTTCTTACGGGGTTTCTGGTGAAAATGTCAAAGGGTTCTTAGTAAGGAGACTCTAGAGCAGGTTGTGAGCTGGGTTGGGGGCGGCTGGGTTGCGTTCCCATAACCACCTCCCTTGGAGGCCTGAGACCTTCTCCACTTTCACTGAGCTGGAGAGCCTGGCTCTCTCCGGTTCCATTCTGTATTAGGTAGAGCTTTGGCCCCTGGTGGCGCTGACTTTTCCTAGGACGAACCATGGGTCTCAGCATAGTGCAGAATGAGCCCCAGGCAGCATAATCGGGGACAGTTTCCCCAGCACTTGTCCCCCTCCTTTGGCTCTCTACAAAGAGATGTAGGGGGAGCTGGAGAGGGAAGGACTGAGAGGGGGACCAAGGCTTTCTGAAACTCACCGAACACCCCTCCACCCACCCCACC 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AGGCTGGTTGGAGACTTGTACCAGAACTTGTTCCTAGCTGGTCCATTCTCAGATGCAGAATAAGCAAAAGATAGCTTGCATGTCTGAGAATGGGACCCTCCTTTGCAAGTAGGCCTCCCCCTGCCACAGGTCCAGGTGTTCCCAGAGAATGGCTCAGGTTGGAGCACCAAGAAGGAAGGCAGTGTGGACAAGCCAGTGGCCAGGCCGGCCTAGCCGCGGCCCCCAAGAGTGGCTTGGTCAGGGAAAATCTGTGCCTCCTGAACATCTGGTGGAAGGTATCTGCCTCAGCTTGCCCTTCCTTCTCCATGTTCAACACTACTACATGCCAGACCCCATGCAGGACCCTGGGCTTCCCTCTAGCGTACCTCCAACAGCCTCTGCAGCTGACCTGGGTGGGTCACAGGCAAGGTGGCTGGGTAGCGCCCATTTCTGAGTGGCTTTCAGGGATGTCCTGTGGACAAGCAAGGGGAAGCTCTGGTGACCCATTTCTTTGCCTCTGGAGTCTGGTCATTAGGGAGGATCCTATGCTGTGCCTAAGATGGGCACGCACCCAGCAGGCTATCTTGGGGCAGGGAGCATTAGGAGCTGACCGTCTCCTCTTACTTACTCTGCTGCCCACTGACATCTCCTAAGGCCTGGAATTTCATCATTGACAATTTATTCTCTTTTTTTCCAAAATTGTGTACATTTTATTTTATGAAATATCATTTTATTTATTTATTTATTTATTTCAATAGGTTTCTGGGGAACAGATGGTGTTTGGTTACATGAATAAGTTCTTTCGTGGTGATTTCTGAGATTTTGGTGCACCCATCACCCAAGCAGTGTACACTGCACCCAATGTGTAGTCTTTGATCTGTCACCTCACACCCAACCTTTCCCCAAGTCCCCAAAGTCCATTGTGTCATTCTTATGCCTTTGCATCCTCATGGCTTAGCTTCCACTTATAAGTGAGAACATACGATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTCTCAAATTCCATCCAGGTTGCTGTGAATGCCATTATTTTGTTCCTTTTTATGGCTGAGGAGTATTCCATGGCATATTTATACTGCAATTTCTTTATCCACTTGTTGGTTGATGGGCATTTGGGCTGGTACCATATTTTTGCAATTACAAATTGTACTGCTGTAAACATGCGTGTGCAAGTATCTTTTTCGTATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGGATTACTGGATCAAATGGTAGTTCTACTTTTAGTTCTTTGAGGAATCTCCACACTGTTTTCCATAGTGGTTGTACTAGTTTACATTCCCACCAGCAACATCACTGGCAATGAATTCTTTAGCTTAAATGTTGCCCTCATTCTGTGGGCTTATTTTAAAATTGCAGATACCACTGTGAGAGGTAATAGATTAAGTCCCTGATTGTAAAAAGAATGTGTTTACCTGATACTTTCTGCTCTACAGTAGAGATGTAGACACACAAATTCTGAGTTTGCTAAAGGTGATGTTAAAGAACAGGAGAAGGGCGTACAAAAAGCAGAGGGCTATTGGGAAGCCTCCCTCCCACCCCACCAGGTTCTGTTTGCAGAAGAACTGGCTTCTGGCGTGATTTCTGCCCTTCTTTGACTCTGTTTCCTTGTGCCAGACTCTCCTGCATACTGGGCTTCAGTTTCTCCTTGGAATGATGAGAAAGGTGGGCTGGAGAATGGGGTGTCAAGGCCCCTCCAGAGTCCATGTGTTCTGGGTCTTTAACCACAGGTTTCCGAGAGAGCGCTTTTGCCTACGCCATCGCAGCAGCTGGCGTGGTGCACGCCGTGTCCAATGCGTGTGCCCTGGGCAAACTGAAGGCCTGTGGCTGTGATGCGTCCCGGCGAGGGGACGAGGAGGCCTTCCGTAGGAAGCTGCACCGCTTACAACTGGATGCACTGCAGCGTGGTAAGGGCCTGAGCCATGGGGTCCCGGAACACCCAGCCCTGCCCACAGCCAGCCCAGGCCTGCAGGACTCCTGGGAGTGGGGCGGCTGCAGCCCCGGCATGGGCTTCGGGGAGCGCTTTTCTAAGGACTTTCTGGACTCCCGGGAGCCTCACAGAGACATCCACGCGAGAATGAGGCTTCACAACAACCGAGTTGGGAGGCAGGTGAGAGCCCCACCCCTGGGTCTGCTTCAAATCTCTTTGCCTAGGGCCTACCCCTTGCCCTGGCCTACCTCTCTTCTGAGGACCACGTTGCTCCCACATGTCACACCTTGGCAATCTTCTCGTTGACCCTGTCTAATTCAACAAACATGCACTGAGTATGCACTGTGCACCAGGCACTGGACTAGGCCTGGGGATACAGGGCAGAAACAAGCCCTGTTGCCCTGGATCAGCATACCACCTGCTGAGCAACCTGCTTCTCCTACTTCCTCGGGTGATCACCCAGGAGAAAGGACAGGGGTGCAGTCAGGACTTCAGGAGTCTAGGCCTGGAGCTCCCATCTGACTCCTCCCCTATAGAGTGACAAGGTTGAACTAGATCATCCCTAAGGTTCCCCCCAATGCTAATGTTCCATGATCCAGTGATCTCTCCCAGCCTTTCTGTGCAGTCTAGAATGAGGGATTCCTGCAAAGTAAGGGGTGTAAGTGAAGTTCCTAGGGGCCACTGGGGAACTGTGTTATGGTGCCTTTCTCCTTTATCCTCTGTCCTCAAATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCATCTTGACTTAGAGGCGGGGTAAACTGAGGCACACTTACCCTTGGGTCATGTCCAGCTCCCACCCAGCCTGCCCTGTACAGCTCTTTTCCCAAGCCTCACCGCCATCCCAGCCCATACCAACGGTGCCTCCTCCTCCTCCTCCTCGTTAAACTGGTTAATTAATGGCTGCTGCCCGTGGGAAGCAGATGTTCTGGAGCTGTTGGCCTGGGGAGGCATTGGTCTGGTTCCCACGTGGTGCTGACAGCACAGGCTGCGCATGCACGCTGTGGAGCCCTTTCAGACCTCGAGGGGAAGGCGCCCTCTCTTATGGCCCTACTGCCCAAGTTTAAGGGCCCTGGATCATTGCCGTCCCTGTCTCAGGGTGTGTTTTCGGAGTGGACTGAGGGAAAGGAGGGGATGTGGCCAACTTCTTACGGGGTTTCTGGTGAAAATGTCAAAGGGTTCTTAGTAAGGAGACTCTAGAGCAGGTTGTGAGCTGGGTTGGGGGCGGCTGGGTTGCGTTCCCATAACCACCTCCCTTGGAGGCCTGAGACCTTCTCCACTTTCACTGAGCTGGAGAGCCTGGCTCTCTCCGGTTCCATTCTGTATTAGGTAGAGCTTTGGCCCCTGGTGGCGCTGACTTTTCCTAGGACGAACCATGGGTCTCAGCATAGTGCAGAATGAGCCCCAGGCAGCATAATCGGGGACAGTTTCCCCAGCACTTGTCCCCCTCCTTTGGCTCTCTACAAAGAGATGTAGGGGGAGCTGGAGAGGGAAGGACTGAGAGGGGGACCAAGGCTTTCTGAAACTCACCGAACACCCCTCCACCCACCCCACC 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Task1_train_5479 | Here is a genetic alteration in WNT10A (Wnt family member 10A) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Tooth agenesis, selective, 4 | AGGCTGGTTGGAGACTTGTACCAGAACTTGTTCCTAGCTGGTCCATTCTCAGATGCAGAATAAGCAAAAGATAGCTTGCATGTCTGAGAATGGGACCCTCCTTTGCAAGTAGGCCTCCCCCTGCCACAGGTCCAGGTGTTCCCAGAGAATGGCTCAGGTTGGAGCACCAAGAAGGAAGGCAGTGTGGACAAGCCAGTGGCCAGGCCGGCCTAGCCGCGGCCCCCAAGAGTGGCTTGGTCAGGGAAAATCTGTGCCTCCTGAACATCTGGTGGAAGGTATCTGCCTCAGCTTGCCCTTCCTTCTCCATGTTCAACACTACTACATGCCAGACCCCATGCAGGACCCTGGGCTTCCCTCTAGCGTACCTCCAACAGCCTCTGCAGCTGACCTGGGTGGGTCACAGGCAAGGTGGCTGGGTAGCGCCCATTTCTGAGTGGCTTTCAGGGATGTCCTGTGGACAAGCAAGGGGAAGCTCTGGTGACCCATTTCTTTGCCTCTGGAGTCTGGTCATTAGGGAGGATCCTATGCTGTGCCTAAGATGGGCACGCACCCAGCAGGCTATCTTGGGGCAGGGAGCATTAGGAGCTGACCGTCTCCTCTTACTTACTCTGCTGCCCACTGACATCTCCTAAGGCCTGGAATTTCATCATTGACAATTTATTCTCTTTTTTTCCAAAATTGTGTACATTTTATTTTATGAAATATCATTTTATTTATTTATTTATTTATTTCAATAGGTTTCTGGGGAACAGATGGTGTTTGGTTACATGAATAAGTTCTTTCGTGGTGATTTCTGAGATTTTGGTGCACCCATCACCCAAGCAGTGTACACTGCACCCAATGTGTAGTCTTTGATCTGTCACCTCACACCCAACCTTTCCCCAAGTCCCCAAAGTCCATTGTGTCATTCTTATGCCTTTGCATCCTCATGGCTTAGCTTCCACTTATAAGTGAGAACATACGATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTCTCAAATTCCATCCAGGTTGCTGTGAATGCCATTATTTTGTTCCTTTTTATGGCTGAGGAGTATTCCATGGCATATTTATACTGCAATTTCTTTATCCACTTGTTGGTTGATGGGCATTTGGGCTGGTACCATATTTTTGCAATTACAAATTGTACTGCTGTAAACATGCGTGTGCAAGTATCTTTTTCGTATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGGATTACTGGATCAAATGGTAGTTCTACTTTTAGTTCTTTGAGGAATCTCCACACTGTTTTCCATAGTGGTTGTACTAGTTTACATTCCCACCAGCAACATCACTGGCAATGAATTCTTTAGCTTAAATGTTGCCCTCATTCTGTGGGCTTATTTTAAAATTGCAGATACCACTGTGAGAGGTAATAGATTAAGTCCCTGATTGTAAAAAGAATGTGTTTACCTGATACTTTCTGCTCTACAGTAGAGATGTAGACACACAAATTCTGAGTTTGCTAAAGGTGATGTTAAAGAACAGGAGAAGGGCGTACAAAAAGCAGAGGGCTATTGGGAAGCCTCCCTCCCACCCCACCAGGTTCTGTTTGCAGAAGAACTGGCTTCTGGCGTGATTTCTGCCCTTCTTTGACTCTGTTTCCTTGTGCCAGACTCTCCTGCATACTGGGCTTCAGTTTCTCCTTGGAATGATGAGAAAGGTGGGCTGGAGAATGGGGTGTCAAGGCCCCTCCAGAGTCCATGTGTTCTGGGTCTTTAACCACAGGTTTCCGAGAGAGCGCTTTTGCCTACGCCATCGCAGCAGCTGGCGTGGTGCACGCCGTGTCCAATGCGTGTGCCCTGGGCAAACTGAAGGCCTGTGGCTGTGATGCGTCCCGGCGAGGGGACGAGGAGGCCTTCCGTAGGAAGCTGCACCGCTTACAACTGGATGCACTGCAGCGTGGTAAGGGCCTGAGCCATGGGGTCCCGGAACACCCAGCCCTGCCCACAGCCAGCCCAGGCCTGCAGGACTCCTGGGAGTGGGGCGGCTGCAGCCCCGACATGGGCTTCGGGGAGCGCTTTTCTAAGGACTTTCTGGACTCCCGGGAGCCTCACAGAGACATCCACGCGAGAATGAGGCTTCACAACAACCGAGTTGGGAGGCAGGTGAGAGCCCCACCCCTGGGTCTGCTTCAAATCTCTTTGCCTAGGGCCTACCCCTTGCCCTGGCCTACCTCTCTTCTGAGGACCACGTTGCTCCCACATGTCACACCTTGGCAATCTTCTCGTTGACCCTGTCTAATTCAACAAACATGCACTGAGTATGCACTGTGCACCAGGCACTGGACTAGGCCTGGGGATACAGGGCAGAAACAAGCCCTGTTGCCCTGGATCAGCATACCACCTGCTGAGCAACCTGCTTCTCCTACTTCCTCGGGTGATCACCCAGGAGAAAGGACAGGGGTGCAGTCAGGACTTCAGGAGTCTAGGCCTGGAGCTCCCATCTGACTCCTCCCCTATAGAGTGACAAGGTTGAACTAGATCATCCCTAAGGTTCCCCCCAATGCTAATGTTCCATGATCCAGTGATCTCTCCCAGCCTTTCTGTGCAGTCTAGAATGAGGGATTCCTGCAAAGTAAGGGGTGTAAGTGAAGTTCCTAGGGGCCACTGGGGAACTGTGTTATGGTGCCTTTCTCCTTTATCCTCTGTCCTCAAATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCATCTTGACTTAGAGGCGGGGTAAACTGAGGCACACTTACCCTTGGGTCATGTCCAGCTCCCACCCAGCCTGCCCTGTACAGCTCTTTTCCCAAGCCTCACCGCCATCCCAGCCCATACCAACGGTGCCTCCTCCTCCTCCTCCTCGTTAAACTGGTTAATTAATGGCTGCTGCCCGTGGGAAGCAGATGTTCTGGAGCTGTTGGCCTGGGGAGGCATTGGTCTGGTTCCCACGTGGTGCTGACAGCACAGGCTGCGCATGCACGCTGTGGAGCCCTTTCAGACCTCGAGGGGAAGGCGCCCTCTCTTATGGCCCTACTGCCCAAGTTTAAGGGCCCTGGATCATTGCCGTCCCTGTCTCAGGGTGTGTTTTCGGAGTGGACTGAGGGAAAGGAGGGGATGTGGCCAACTTCTTACGGGGTTTCTGGTGAAAATGTCAAAGGGTTCTTAGTAAGGAGACTCTAGAGCAGGTTGTGAGCTGGGTTGGGGGCGGCTGGGTTGCGTTCCCATAACCACCTCCCTTGGAGGCCTGAGACCTTCTCCACTTTCACTGAGCTGGAGAGCCTGGCTCTCTCCGGTTCCATTCTGTATTAGGTAGAGCTTTGGCCCCTGGTGGCGCTGACTTTTCCTAGGACGAACCATGGGTCTCAGCATAGTGCAGAATGAGCCCCAGGCAGCATAATCGGGGACAGTTTCCCCAGCACTTGTCCCCCTCCTTTGGCTCTCTACAAAGAGATGTAGGGGGAGCTGGAGAGGGAAGGACTGAGAGGGGGACCAAGGCTTTCTGAAACTCACCGAACACCCCTCCACCCACCCCACC 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AGGCTGGTTGGAGACTTGTACCAGAACTTGTTCCTAGCTGGTCCATTCTCAGATGCAGAATAAGCAAAAGATAGCTTGCATGTCTGAGAATGGGACCCTCCTTTGCAAGTAGGCCTCCCCCTGCCACAGGTCCAGGTGTTCCCAGAGAATGGCTCAGGTTGGAGCACCAAGAAGGAAGGCAGTGTGGACAAGCCAGTGGCCAGGCCGGCCTAGCCGCGGCCCCCAAGAGTGGCTTGGTCAGGGAAAATCTGTGCCTCCTGAACATCTGGTGGAAGGTATCTGCCTCAGCTTGCCCTTCCTTCTCCATGTTCAACACTACTACATGCCAGACCCCATGCAGGACCCTGGGCTTCCCTCTAGCGTACCTCCAACAGCCTCTGCAGCTGACCTGGGTGGGTCACAGGCAAGGTGGCTGGGTAGCGCCCATTTCTGAGTGGCTTTCAGGGATGTCCTGTGGACAAGCAAGGGGAAGCTCTGGTGACCCATTTCTTTGCCTCTGGAGTCTGGTCATTAGGGAGGATCCTATGCTGTGCCTAAGATGGGCACGCACCCAGCAGGCTATCTTGGGGCAGGGAGCATTAGGAGCTGACCGTCTCCTCTTACTTACTCTGCTGCCCACTGACATCTCCTAAGGCCTGGAATTTCATCATTGACAATTTATTCTCTTTTTTTCCAAAATTGTGTACATTTTATTTTATGAAATATCATTTTATTTATTTATTTATTTATTTCAATAGGTTTCTGGGGAACAGATGGTGTTTGGTTACATGAATAAGTTCTTTCGTGGTGATTTCTGAGATTTTGGTGCACCCATCACCCAAGCAGTGTACACTGCACCCAATGTGTAGTCTTTGATCTGTCACCTCACACCCAACCTTTCCCCAAGTCCCCAAAGTCCATTGTGTCATTCTTATGCCTTTGCATCCTCATGGCTTAGCTTCCACTTATAAGTGAGAACATACGATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTCTCAAATTCCATCCAGGTTGCTGTGAATGCCATTATTTTGTTCCTTTTTATGGCTGAGGAGTATTCCATGGCATATTTATACTGCAATTTCTTTATCCACTTGTTGGTTGATGGGCATTTGGGCTGGTACCATATTTTTGCAATTACAAATTGTACTGCTGTAAACATGCGTGTGCAAGTATCTTTTTCGTATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGGATTACTGGATCAAATGGTAGTTCTACTTTTAGTTCTTTGAGGAATCTCCACACTGTTTTCCATAGTGGTTGTACTAGTTTACATTCCCACCAGCAACATCACTGGCAATGAATTCTTTAGCTTAAATGTTGCCCTCATTCTGTGGGCTTATTTTAAAATTGCAGATACCACTGTGAGAGGTAATAGATTAAGTCCCTGATTGTAAAAAGAATGTGTTTACCTGATACTTTCTGCTCTACAGTAGAGATGTAGACACACAAATTCTGAGTTTGCTAAAGGTGATGTTAAAGAACAGGAGAAGGGCGTACAAAAAGCAGAGGGCTATTGGGAAGCCTCCCTCCCACCCCACCAGGTTCTGTTTGCAGAAGAACTGGCTTCTGGCGTGATTTCTGCCCTTCTTTGACTCTGTTTCCTTGTGCCAGACTCTCCTGCATACTGGGCTTCAGTTTCTCCTTGGAATGATGAGAAAGGTGGGCTGGAGAATGGGGTGTCAAGGCCCCTCCAGAGTCCATGTGTTCTGGGTCTTTAACCACAGGTTTCCGAGAGAGCGCTTTTGCCTACGCCATCGCAGCAGCTGGCGTGGTGCACGCCGTGTCCAATGCGTGTGCCCTGGGCAAACTGAAGGCCTGTGGCTGTGATGCGTCCCGGCGAGGGGACGAGGAGGCCTTCCGTAGGAAGCTGCACCGCTTACAACTGGATGCACTGCAGCGTGGTAAGGGCCTGAGCCATGGGGTCCCGGAACACCCAGCCCTGCCCACAGCCAGCCCAGGCCTGCAGGACTCCTGGGAGTGGGGCGGCTGCAGCCCCGGCATGGGCTTCGGGGAGCGCTTTTCTAAGGACTTTCTGGACTCCCGGGAGCCTCACAGAGACATCCACGCGAGAATGAGGCTTCACAACAACCGAGTTGGGAGGCAGGTGAGAGCCCCACCCCTGGGTCTGCTTCAAATCTCTTTGCCTAGGGCCTACCCCTTGCCCTGGCCTACCTCTCTTCTGAGGACCACGTTGCTCCCACATGTCACACCTTGGCAATCTTCTCGTTGACCCTGTCTAATTCAACAAACATGCACTGAGTATGCACTGTGCACCAGGCACTGGACTAGGCCTGGGGATACAGGGCAGAAACAAGCCCTGTTGCCCTGGATCAGCATACCACCTGCTGAGCAACCTGCTTCTCCTACTTCCTCGGGTGATCACCCAGGAGAAAGGACAGGGGTGCAGTCAGGACTTCAGGAGTCTAGGCCTGGAGCTCCCATCTGACTCCTCCCCTATAGAGTGACAAGGTTGAACTAGATCATCCCTAAGGTTCCCCCCAATGCTAATGTTCCATGATCCAGTGATCTCTCCCAGCCTTTCTGTGCAGTCTAGAATGAGGGATTCCTGCAAAGTAAGGGGTGTAAGTGAAGTTCCTAGGGGCCACTGGGGAACTGTGTTATGGTGCCTTTCTCCTTTATCCTCTGTCCTCAAATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCATCTTGACTTAGAGGCGGGGTAAACTGAGGCACACTTACCCTTGGGTCATGTCCAGCTCCCACCCAGCCTGCCCTGTACAGCTCTTTTCCCAAGCCTCACCGCCATCCCAGCCCATACCAACGGTGCCTCCTCCTCCTCCTCCTCGTTAAACTGGTTAATTAATGGCTGCTGCCCGTGGGAAGCAGATGTTCTGGAGCTGTTGGCCTGGGGAGGCATTGGTCTGGTTCCCACGTGGTGCTGACAGCACAGGCTGCGCATGCACGCTGTGGAGCCCTTTCAGACCTCGAGGGGAAGGCGCCCTCTCTTATGGCCCTACTGCCCAAGTTTAAGGGCCCTGGATCATTGCCGTCCCTGTCTCAGGGTGTGTTTTCGGAGTGGACTGAGGGAAAGGAGGGGATGTGGCCAACTTCTTACGGGGTTTCTGGTGAAAATGTCAAAGGGTTCTTAGTAAGGAGACTCTAGAGCAGGTTGTGAGCTGGGTTGGGGGCGGCTGGGTTGCGTTCCCATAACCACCTCCCTTGGAGGCCTGAGACCTTCTCCACTTTCACTGAGCTGGAGAGCCTGGCTCTCTCCGGTTCCATTCTGTATTAGGTAGAGCTTTGGCCCCTGGTGGCGCTGACTTTTCCTAGGACGAACCATGGGTCTCAGCATAGTGCAGAATGAGCCCCAGGCAGCATAATCGGGGACAGTTTCCCCAGCACTTGTCCCCCTCCTTTGGCTCTCTACAAAGAGATGTAGGGGGAGCTGGAGAGGGAAGGACTGAGAGGGGGACCAAGGCTTTCTGAAACTCACCGAACACCCCTCCACCCACCCCACC 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Task1_train_5480 | A genetic alteration is present in WNT10A (Wnt family member 10A) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Odonto-onycho-dermal dysplasia | GCCTTTCTGTGCAGTCTAGAATGAGGGATTCCTGCAAAGTAAGGGGTGTAAGTGAAGTTCCTAGGGGCCACTGGGGAACTGTGTTATGGTGCCTTTCTCCTTTATCCTCTGTCCTCAAATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCATCTTGACTTAGAGGCGGGGTAAACTGAGGCACACTTACCCTTGGGTCATGTCCAGCTCCCACCCAGCCTGCCCTGTACAGCTCTTTTCCCAAGCCTCACCGCCATCCCAGCCCATACCAACGGTGCCTCCTCCTCCTCCTCCTCGTTAAACTGGTTAATTAATGGCTGCTGCCCGTGGGAAGCAGATGTTCTGGAGCTGTTGGCCTGGGGAGGCATTGGTCTGGTTCCCACGTGGTGCTGACAGCACAGGCTGCGCATGCACGCTGTGGAGCCCTTTCAGACCTCGAGGGGAAGGCGCCCTCTCTTATGGCCCTACTGCCCAAGTTTAAGGGCCCTGGATCATTGCCGTCCCTGTCTCAGGGTGTGTTTTCGGAGTGGACTGAGGGAAAGGAGGGGATGTGGCCAACTTCTTACGGGGTTTCTGGTGAAAATGTCAAAGGGTTCTTAGTAAGGAGACTCTAGAGCAGGTTGTGAGCTGGGTTGGGGGCGGCTGGGTTGCGTTCCCATAACCACCTCCCTTGGAGGCCTGAGACCTTCTCCACTTTCACTGAGCTGGAGAGCCTGGCTCTCTCCGGTTCCATTCTGTATTAGGTAGAGCTTTGGCCCCTGGTGGCGCTGACTTTTCCTAGGACGAACCATGGGTCTCAGCATAGTGCAGAATGAGCCCCAGGCAGCATAATCGGGGACAGTTTCCCCAGCACTTGTCCCCCTCCTTTGGCTCTCTACAAAGAGATGTAGGGGGAGCTGGAGAGGGAAGGACTGAGAGGGGGACCAAGGCTTTCTGAAACTCACCGAACACCCCTCCACCCACCCCACCACACACACACACACACACACACACACACACACACACACACACACACACACACACACGGCCTGGAGCGAGATACAGCGGGGCCAGCACCCTCCTGCTCCTGGCCCCTACCCCAGGGGTGGCAGGAGAGGGAATTTCCCTGCCTATTTGGGATCCCCCTTCAGGAAGCAAGAGCCTCCAGCCCCAAGGGCCCCCTGCAGCTGCTGGAAAGGCGGGCAGGAGAGGAGGGGAGCCGGCAGGTGGGAATTCCCCCGGGGCCTGGCCTGGTGGGAGGTGGGTGGGAGAGGCAGAGGCAGAGGCAGAAGAGCAGGTACAGAAGTTCTTCTGACTGCCTGGTTGTGGGACCCTCGCTCCCGGCCTCAGCGTTTGCCTCTGTATAATGGGAGTGGGTTTCAGAAGCAGGCCAGGCTAAGCGCTGGGAGGGGAGTGGGGCTGCGCGCCGTGTCACCCCTCACGGTGCCTCCCTCCGCAGGCAGTGATGGAGAACATGCGGCGGAAGTGCAAGTGCCACGGCACGTCAGGCAGCTGCCAGCTCAAGACGTGCTGGCAGGTGACGCCCGAGTTCCGCACCGTGGGGGCGCTGCTGCGCAGCCGCTTCCACCGCGCCACGCTCATCCGGCCGCACAACCGCAACGGCGGCCAGCTGGAGCCGGGCCCAGCGGGGGCACCCTCGCCGGCTCCGGGCGCTCCCGGGCCGCGCCGACGGGCCAGCCCCGCCGACCTGGTCTACTTCGAAAAGTCTCCCGACTTCTGCGAGCGCGAGCCGCGCCTGGACTCGGCGGGCACCGTGGGCCGCCTGTGCAACAAGAGCAGCGCCGGCTCGGATGGCTGCGGCAGCATGTGCTGCGGCCGCGGCCACAACATCCTGCGCCAGACGCGCAGCGAGCGCTGCCACTGCCGCTTCCACTGGTGCTGTTTCGTGGTCTGCGAAGAGTGCCGCATCACCGAGTGGGTCAGCGTCTGCAAGTGAGCGGCCCGGGGTCCCCTGGGCCCTGATCGAGGTCCCCTCCTGGAGCCTGGCCCTCTGAGGCTTACGGTCTTGGCAAGGCAGCATCGCCTTGGCTCTTGGGAAGAGGAGATTGGACCACATGATCTTATAGGAACCCCTCAGCTCTGAGGTCTGTGATCGCCGGACAGTCCAGGCCTGTCTGAACCCCACCACTCACTTCTGTGGGCTCTAGGACTGACTGGGTTCTTCCTCCCTCCCCGAAGCCCAGACAGTTCAGTTGGGCTGGGGGTTGCTCCACACCCTAAAACAAGCCTCAGCCAGGCAACCCGTCAGTCTGTCTCCATCCTTTCACCCCTTCCCTGGAGATGGGAGGTGGGGAATGAATGGAAGCTGACGGGCAGAGAGAGGAGGATTAAAAAAAAGAAATAGACATAACTGAGCTGAAGTAATTCCATAAAGGGCCCAGACAGCCTCCTCCACCATTCCCTTCATCATTCATTTAACAAATATTTATTTTGCACTCTCTTTGCGGCACTCTGGGGGCGGTGGGGTGCGTGGGGGTGGCAATGCAAGGCACTGAGGCCACAGATGTGAGTAAGCGAGACACAACACTTGTCCTCTTGGAGGTTACATTCTTGCTGGGGGGAGGCATGGGCAATAAACAAGTAAATATACAAACAAGGTCATTTCAGACAATGCTGTGTGCAGGCTGCTGGGTGTAGGGGGATTTATGGGGAGTGGGGCTCCTCAGACAAAGCCACTGTTTTTTCAGGGAAGGCCTCTGTGAGTTGTGATACCTATGCTGGGACCTGCATCATAAGCCATGCAAAGAGTATGGGTAAGGGCATTCCAGGCAGAGGCCATGTGAAGGCAGAAAGTGTGAGCTGAGAAAGATCTCTGCCTGCTGGAGAAACAGCAAAGGGGCCATTGTGATTGCAGTGAAGAAATCAAGGGACAGACTAGCAGGAGAGGTGTTCAGAGGGTGGGCAAAGGTCACATCGTGTGTCTCTCTAAGCCAAAGTAAGGAGTTGGGGTTTTATTAAAGAGGAATGGGAACCTTGAGATCCTTAAGCAGGGGAGTGTCCTGGTCCAAGTCTCACATGGATCGCTGATGGGGAACTGGCTGAAGGGGGATGAGGTGACAGCTGGTAAGCCAGTGAGGAATAACAACCATCTTCTAAGTCAGAGATGGGGCTTGGACTGGTTGTAAGCAGTGGGGATGTCGAGAAGGGCTCTGGTGCCAGAGCTCTAACCGCCCACCTTGTGCCTGAGCCCTCTGCCACAAGCCAGGACGAGTGGCCGTGCCCAGCAGCAACTGTCTGCAGAGACAGGAGGCACTCAGAGGAGTAATCCTGGGCAAGACCCAGCTCAGCCCAGCCCAGCGCCCCGGGGAGCAGGTGGGGCCAGGAGGCGCGGCTGGGAAAAGGGTGGCGGAGGAGGGCCCGGAGACTCACTGTCTGGATTCTGGTCTCTCTGAGTCCAGGCAGGGTATGTAAGTAAGGTGCAGGGGGCACATTCTTCCTGGGCCTCTTGTGCTCCCAGATCCCCATATCAGGGTGCTCCTTAGCAGGTCAGCAATCCTTCCCCACCCTCATGTCCCTGTGAGGACACTGTTGAGCAGTTTGGGTCCAGTGTTGCAC 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GCCTTTCTGTGCAGTCTAGAATGAGGGATTCCTGCAAAGTAAGGGGTGTAAGTGAAGTTCCTAGGGGCCACTGGGGAACTGTGTTATGGTGCCTTTCTCCTTTATCCTCTGTCCTCAAATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCATCTTGACTTAGAGGCGGGGTAAACTGAGGCACACTTACCCTTGGGTCATGTCCAGCTCCCACCCAGCCTGCCCTGTACAGCTCTTTTCCCAAGCCTCACCGCCATCCCAGCCCATACCAACGGTGCCTCCTCCTCCTCCTCCTCGTTAAACTGGTTAATTAATGGCTGCTGCCCGTGGGAAGCAGATGTTCTGGAGCTGTTGGCCTGGGGAGGCATTGGTCTGGTTCCCACGTGGTGCTGACAGCACAGGCTGCGCATGCACGCTGTGGAGCCCTTTCAGACCTCGAGGGGAAGGCGCCCTCTCTTATGGCCCTACTGCCCAAGTTTAAGGGCCCTGGATCATTGCCGTCCCTGTCTCAGGGTGTGTTTTCGGAGTGGACTGAGGGAAAGGAGGGGATGTGGCCAACTTCTTACGGGGTTTCTGGTGAAAATGTCAAAGGGTTCTTAGTAAGGAGACTCTAGAGCAGGTTGTGAGCTGGGTTGGGGGCGGCTGGGTTGCGTTCCCATAACCACCTCCCTTGGAGGCCTGAGACCTTCTCCACTTTCACTGAGCTGGAGAGCCTGGCTCTCTCCGGTTCCATTCTGTATTAGGTAGAGCTTTGGCCCCTGGTGGCGCTGACTTTTCCTAGGACGAACCATGGGTCTCAGCATAGTGCAGAATGAGCCCCAGGCAGCATAATCGGGGACAGTTTCCCCAGCACTTGTCCCCCTCCTTTGGCTCTCTACAAAGAGATGTAGGGGGAGCTGGAGAGGGAAGGACTGAGAGGGGGACCAAGGCTTTCTGAAACTCACCGAACACCCCTCCACCCACCCCACCACACACACACACACACACACACACACACACACACACACACACACACACACACACACGGCCTGGAGCGAGATACAGCGGGGCCAGCACCCTCCTGCTCCTGGCCCCTACCCCAGGGGTGGCAGGAGAGGGAATTTCCCTGCCTATTTGGGATCCCCCTTCAGGAAGCAAGAGCCTCCAGCCCCAAGGGCCCCCTGCAGCTGCTGGAAAGGCGGGCAGGAGAGGAGGGGAGCCGGCAGGTGGGAATTCCCCCGGGGCCTGGCCTGGTGGGAGGTGGGTGGGAGAGGCAGAGGCAGAGGCAGAAGAGCAGGTACAGAAGTTCTTCTGACTGCCTGGTTGTGGGACCCTCGCTCCCGGCCTCAGCGTTTGCCTCTGTATAATGGGAGTGGGTTTCAGAAGCAGGCCAGGCTAAGCGCTGGGAGGGGAGTGGGGCTGCGCGCCGTGTCACCCCTCACGGTGCCTCCCTCCGCAGGCAGTGATGGAGAACATGCGGCGGAAGTGCAAGTGCCACGGCACGTCAGGCAGCTGCCAGCTCAAGACGAGCTGGCAGGTGACGCCCGAGTTCCGCACCGTGGGGGCGCTGCTGCGCAGCCGCTTCCACCGCGCCACGCTCATCCGGCCGCACAACCGCAACGGCGGCCAGCTGGAGCCGGGCCCAGCGGGGGCACCCTCGCCGGCTCCGGGCGCTCCCGGGCCGCGCCGACGGGCCAGCCCCGCCGACCTGGTCTACTTCGAAAAGTCTCCCGACTTCTGCGAGCGCGAGCCGCGCCTGGACTCGGCGGGCACCGTGGGCCGCCTGTGCAACAAGAGCAGCGCCGGCTCGGATGGCTGCGGCAGCATGTGCTGCGGCCGCGGCCACAACATCCTGCGCCAGACGCGCAGCGAGCGCTGCCACTGCCGCTTCCACTGGTGCTGTTTCGTGGTCTGCGAAGAGTGCCGCATCACCGAGTGGGTCAGCGTCTGCAAGTGAGCGGCCCGGGGTCCCCTGGGCCCTGATCGAGGTCCCCTCCTGGAGCCTGGCCCTCTGAGGCTTACGGTCTTGGCAAGGCAGCATCGCCTTGGCTCTTGGGAAGAGGAGATTGGACCACATGATCTTATAGGAACCCCTCAGCTCTGAGGTCTGTGATCGCCGGACAGTCCAGGCCTGTCTGAACCCCACCACTCACTTCTGTGGGCTCTAGGACTGACTGGGTTCTTCCTCCCTCCCCGAAGCCCAGACAGTTCAGTTGGGCTGGGGGTTGCTCCACACCCTAAAACAAGCCTCAGCCAGGCAACCCGTCAGTCTGTCTCCATCCTTTCACCCCTTCCCTGGAGATGGGAGGTGGGGAATGAATGGAAGCTGACGGGCAGAGAGAGGAGGATTAAAAAAAAGAAATAGACATAACTGAGCTGAAGTAATTCCATAAAGGGCCCAGACAGCCTCCTCCACCATTCCCTTCATCATTCATTTAACAAATATTTATTTTGCACTCTCTTTGCGGCACTCTGGGGGCGGTGGGGTGCGTGGGGGTGGCAATGCAAGGCACTGAGGCCACAGATGTGAGTAAGCGAGACACAACACTTGTCCTCTTGGAGGTTACATTCTTGCTGGGGGGAGGCATGGGCAATAAACAAGTAAATATACAAACAAGGTCATTTCAGACAATGCTGTGTGCAGGCTGCTGGGTGTAGGGGGATTTATGGGGAGTGGGGCTCCTCAGACAAAGCCACTGTTTTTTCAGGGAAGGCCTCTGTGAGTTGTGATACCTATGCTGGGACCTGCATCATAAGCCATGCAAAGAGTATGGGTAAGGGCATTCCAGGCAGAGGCCATGTGAAGGCAGAAAGTGTGAGCTGAGAAAGATCTCTGCCTGCTGGAGAAACAGCAAAGGGGCCATTGTGATTGCAGTGAAGAAATCAAGGGACAGACTAGCAGGAGAGGTGTTCAGAGGGTGGGCAAAGGTCACATCGTGTGTCTCTCTAAGCCAAAGTAAGGAGTTGGGGTTTTATTAAAGAGGAATGGGAACCTTGAGATCCTTAAGCAGGGGAGTGTCCTGGTCCAAGTCTCACATGGATCGCTGATGGGGAACTGGCTGAAGGGGGATGAGGTGACAGCTGGTAAGCCAGTGAGGAATAACAACCATCTTCTAAGTCAGAGATGGGGCTTGGACTGGTTGTAAGCAGTGGGGATGTCGAGAAGGGCTCTGGTGCCAGAGCTCTAACCGCCCACCTTGTGCCTGAGCCCTCTGCCACAAGCCAGGACGAGTGGCCGTGCCCAGCAGCAACTGTCTGCAGAGACAGGAGGCACTCAGAGGAGTAATCCTGGGCAAGACCCAGCTCAGCCCAGCCCAGCGCCCCGGGGAGCAGGTGGGGCCAGGAGGCGCGGCTGGGAAAAGGGTGGCGGAGGAGGGCCCGGAGACTCACTGTCTGGATTCTGGTCTCTCTGAGTCCAGGCAGGGTATGTAAGTAAGGTGCAGGGGGCACATTCTTCCTGGGCCTCTTGTGCTCCCAGATCCCCATATCAGGGTGCTCCTTAGCAGGTCAGCAATCCTTCCCCACCCTCATGTCCCTGTGAGGACACTGTTGAGCAGTTTGGGTCCAGTGTTGCAC 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Task1_train_5481 | A genomic change on Chromosome 2 affects WNT10A (Wnt family member 10A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Odonto-onycho-dermal dysplasia | CAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCATCTTGACTTAGAGGCGGGGTAAACTGAGGCACACTTACCCTTGGGTCATGTCCAGCTCCCACCCAGCCTGCCCTGTACAGCTCTTTTCCCAAGCCTCACCGCCATCCCAGCCCATACCAACGGTGCCTCCTCCTCCTCCTCCTCGTTAAACTGGTTAATTAATGGCTGCTGCCCGTGGGAAGCAGATGTTCTGGAGCTGTTGGCCTGGGGAGGCATTGGTCTGGTTCCCACGTGGTGCTGACAGCACAGGCTGCGCATGCACGCTGTGGAGCCCTTTCAGACCTCGAGGGGAAGGCGCCCTCTCTTATGGCCCTACTGCCCAAGTTTAAGGGCCCTGGATCATTGCCGTCCCTGTCTCAGGGTGTGTTTTCGGAGTGGACTGAGGGAAAGGAGGGGATGTGGCCAACTTCTTACGGGGTTTCTGGTGAAAATGTCAAAGGGTTCTTAGTAAGGAGACTCTAGAGCAGGTTGTGAGCTGGGTTGGGGGCGGCTGGGTTGCGTTCCCATAACCACCTCCCTTGGAGGCCTGAGACCTTCTCCACTTTCACTGAGCTGGAGAGCCTGGCTCTCTCCGGTTCCATTCTGTATTAGGTAGAGCTTTGGCCCCTGGTGGCGCTGACTTTTCCTAGGACGAACCATGGGTCTCAGCATAGTGCAGAATGAGCCCCAGGCAGCATAATCGGGGACAGTTTCCCCAGCACTTGTCCCCCTCCTTTGGCTCTCTACAAAGAGATGTAGGGGGAGCTGGAGAGGGAAGGACTGAGAGGGGGACCAAGGCTTTCTGAAACTCACCGAACACCCCTCCACCCACCCCACCACACACACACACACACACACACACACACACACACACACACACACACACACACACACGGCCTGGAGCGAGATACAGCGGGGCCAGCACCCTCCTGCTCCTGGCCCCTACCCCAGGGGTGGCAGGAGAGGGAATTTCCCTGCCTATTTGGGATCCCCCTTCAGGAAGCAAGAGCCTCCAGCCCCAAGGGCCCCCTGCAGCTGCTGGAAAGGCGGGCAGGAGAGGAGGGGAGCCGGCAGGTGGGAATTCCCCCGGGGCCTGGCCTGGTGGGAGGTGGGTGGGAGAGGCAGAGGCAGAGGCAGAAGAGCAGGTACAGAAGTTCTTCTGACTGCCTGGTTGTGGGACCCTCGCTCCCGGCCTCAGCGTTTGCCTCTGTATAATGGGAGTGGGTTTCAGAAGCAGGCCAGGCTAAGCGCTGGGAGGGGAGTGGGGCTGCGCGCCGTGTCACCCCTCACGGTGCCTCCCTCCGCAGGCAGTGATGGAGAACATGCGGCGGAAGTGCAAGTGCCACGGCACGTCAGGCAGCTGCCAGCTCAAGACGTGCTGGCAGGTGACGCCCGAGTTCCGCACCGTGGGGGCGCTGCTGCGCAGCCGCTTCCACCGCGCCACGCTCATCCGGCCGCACAACCGCAACGGCGGCCAGCTGGAGCCGGGCCCAGCGGGGGCACCCTCGCCGGCTCCGGGCGCTCCCGGGCCGCGCCGACGGGCCAGCCCCGCCGACCTGGTCTACTTCGAAAAGTCTCCCGACTTCTGCGAGCGCGAGCCGCGCCTGGACTCGGCGGGCACCGTGGGCCGCCTGTGCAACAAGAGCAGCGCCGGCTCGGATGGCTGCGGCAGCATGTGCTGCGGCCGCGGCCACAACATCCTGCGCCAGACGCGCAGCGAGCGCTGCCACTGCCGCTTCCACTGGTGCTGTTTCGTGGTCTGCGAAGAGTGCCGCATCACCGAGTGGGTCAGCGTCTGCAAGTGAGCGGCCCGGGGTCCCCTGGGCCCTGATCGAGGTCCCCTCCTGGAGCCTGGCCCTCTGAGGCTTACGGTCTTGGCAAGGCAGCATCGCCTTGGCTCTTGGGAAGAGGAGATTGGACCACATGATCTTATAGGAACCCCTCAGCTCTGAGGTCTGTGATCGCCGGACAGTCCAGGCCTGTCTGAACCCCACCACTCACTTCTGTGGGCTCTAGGACTGACTGGGTTCTTCCTCCCTCCCCGAAGCCCAGACAGTTCAGTTGGGCTGGGGGTTGCTCCACACCCTAAAACAAGCCTCAGCCAGGCAACCCGTCAGTCTGTCTCCATCCTTTCACCCCTTCCCTGGAGATGGGAGGTGGGGAATGAATGGAAGCTGACGGGCAGAGAGAGGAGGATTAAAAAAAAGAAATAGACATAACTGAGCTGAAGTAATTCCATAAAGGGCCCAGACAGCCTCCTCCACCATTCCCTTCATCATTCATTTAACAAATATTTATTTTGCACTCTCTTTGCGGCACTCTGGGGGCGGTGGGGTGCGTGGGGGTGGCAATGCAAGGCACTGAGGCCACAGATGTGAGTAAGCGAGACACAACACTTGTCCTCTTGGAGGTTACATTCTTGCTGGGGGGAGGCATGGGCAATAAACAAGTAAATATACAAACAAGGTCATTTCAGACAATGCTGTGTGCAGGCTGCTGGGTGTAGGGGGATTTATGGGGAGTGGGGCTCCTCAGACAAAGCCACTGTTTTTTCAGGGAAGGCCTCTGTGAGTTGTGATACCTATGCTGGGACCTGCATCATAAGCCATGCAAAGAGTATGGGTAAGGGCATTCCAGGCAGAGGCCATGTGAAGGCAGAAAGTGTGAGCTGAGAAAGATCTCTGCCTGCTGGAGAAACAGCAAAGGGGCCATTGTGATTGCAGTGAAGAAATCAAGGGACAGACTAGCAGGAGAGGTGTTCAGAGGGTGGGCAAAGGTCACATCGTGTGTCTCTCTAAGCCAAAGTAAGGAGTTGGGGTTTTATTAAAGAGGAATGGGAACCTTGAGATCCTTAAGCAGGGGAGTGTCCTGGTCCAAGTCTCACATGGATCGCTGATGGGGAACTGGCTGAAGGGGGATGAGGTGACAGCTGGTAAGCCAGTGAGGAATAACAACCATCTTCTAAGTCAGAGATGGGGCTTGGACTGGTTGTAAGCAGTGGGGATGTCGAGAAGGGCTCTGGTGCCAGAGCTCTAACCGCCCACCTTGTGCCTGAGCCCTCTGCCACAAGCCAGGACGAGTGGCCGTGCCCAGCAGCAACTGTCTGCAGAGACAGGAGGCACTCAGAGGAGTAATCCTGGGCAAGACCCAGCTCAGCCCAGCCCAGCGCCCCGGGGAGCAGGTGGGGCCAGGAGGCGCGGCTGGGAAAAGGGTGGCGGAGGAGGGCCCGGAGACTCACTGTCTGGATTCTGGTCTCTCTGAGTCCAGGCAGGGTATGTAAGTAAGGTGCAGGGGGCACATTCTTCCTGGGCCTCTTGTGCTCCCAGATCCCCATATCAGGGTGCTCCTTAGCAGGTCAGCAATCCTTCCCCACCCTCATGTCCCTGTGAGGACACTGTTGAGCAGTTTGGGTCCAGTGTTGCACTCTCCTTCGCTCTCGGATCTGATGTTTTCTGGAACAGACCCTCAAGGAGGAGGGCGGTGGAGAAGGGAGTGAGGTCAGGATCTCAGGGAAAGAACACTTTACCTACTGCATCCAGGCCTCTTGCTGCTCACACTTGAGGATCCCGCTGGCTGCCTCAATTTACCCTAGAATAGCACCCCTCTTGATGAACCAGGCAAGGATGAAGACTTGTTCCTTTCCCCAGTGATCAGCCAGCACAAATCCTCCATACTTTCCACCCCTGATCCATGTCTCCCTACCCCTGAGTAGAAGTGAGAAGGAAATGGGGGCCTCTTAGTGATACACCCCAGTAGGCCCACCAGCTGGAAGATTTGCCTCCATGAGCTTGCCCCTC 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CAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCATCTTGACTTAGAGGCGGGGTAAACTGAGGCACACTTACCCTTGGGTCATGTCCAGCTCCCACCCAGCCTGCCCTGTACAGCTCTTTTCCCAAGCCTCACCGCCATCCCAGCCCATACCAACGGTGCCTCCTCCTCCTCCTCCTCGTTAAACTGGTTAATTAATGGCTGCTGCCCGTGGGAAGCAGATGTTCTGGAGCTGTTGGCCTGGGGAGGCATTGGTCTGGTTCCCACGTGGTGCTGACAGCACAGGCTGCGCATGCACGCTGTGGAGCCCTTTCAGACCTCGAGGGGAAGGCGCCCTCTCTTATGGCCCTACTGCCCAAGTTTAAGGGCCCTGGATCATTGCCGTCCCTGTCTCAGGGTGTGTTTTCGGAGTGGACTGAGGGAAAGGAGGGGATGTGGCCAACTTCTTACGGGGTTTCTGGTGAAAATGTCAAAGGGTTCTTAGTAAGGAGACTCTAGAGCAGGTTGTGAGCTGGGTTGGGGGCGGCTGGGTTGCGTTCCCATAACCACCTCCCTTGGAGGCCTGAGACCTTCTCCACTTTCACTGAGCTGGAGAGCCTGGCTCTCTCCGGTTCCATTCTGTATTAGGTAGAGCTTTGGCCCCTGGTGGCGCTGACTTTTCCTAGGACGAACCATGGGTCTCAGCATAGTGCAGAATGAGCCCCAGGCAGCATAATCGGGGACAGTTTCCCCAGCACTTGTCCCCCTCCTTTGGCTCTCTACAAAGAGATGTAGGGGGAGCTGGAGAGGGAAGGACTGAGAGGGGGACCAAGGCTTTCTGAAACTCACCGAACACCCCTCCACCCACCCCACCACACACACACACACACACACACACACACACACACACACACACACACACACACACACGGCCTGGAGCGAGATACAGCGGGGCCAGCACCCTCCTGCTCCTGGCCCCTACCCCAGGGGTGGCAGGAGAGGGAATTTCCCTGCCTATTTGGGATCCCCCTTCAGGAAGCAAGAGCCTCCAGCCCCAAGGGCCCCCTGCAGCTGCTGGAAAGGCGGGCAGGAGAGGAGGGGAGCCGGCAGGTGGGAATTCCCCCGGGGCCTGGCCTGGTGGGAGGTGGGTGGGAGAGGCAGAGGCAGAGGCAGAAGAGCAGGTACAGAAGTTCTTCTGACTGCCTGGTTGTGGGACCCTCGCTCCCGGCCTCAGCGTTTGCCTCTGTATAATGGGAGTGGGTTTCAGAAGCAGGCCAGGCTAAGCGCTGGGAGGGGAGTGGGGCTGCGCGCCGTGTCACCCCTCACGGTGCCTCCCTCCGCAGGCAGTGATGGAGAACATGCGGCGGAAGTGCAAGTGCCACGGCACGTCAGGCAGCTGCCAGCTCAAGACGTGCTGGCAGGTGACGCCCGAGTTCCGCACCGTGGGGGCGCTGCTGCGCAGCCGCTTCCACCGCGCCACGCTCATCCGGCCGCACAACCGCAACGGCGGCCAGCTGGAGCCGGGCCCAGCGGGGGCACCCTCGCCGGCTCCGGGCGCTCCCGGGCCGCGCCGACGGGCCAGCCCCGCCGACCTGGTCTACTTCGAAAAGTCTCCCGACTTCTGCGAGCGCGAGCCGCGCCTGGACTCGGCGGGCACCGTGGGCCGCCTGTGCAACAAGAGCAGCGCCGGCTCGGATGGCTGCGGCAGCATGTGCTGCGGCCGCGGCCACAACATCCTGCGCCAGACGCGCAGCGAGCGCTGCCACTGCCGCTTCCACTGGTGCTATTTCGTGGTCTGCGAAGAGTGCCGCATCACCGAGTGGGTCAGCGTCTGCAAGTGAGCGGCCCGGGGTCCCCTGGGCCCTGATCGAGGTCCCCTCCTGGAGCCTGGCCCTCTGAGGCTTACGGTCTTGGCAAGGCAGCATCGCCTTGGCTCTTGGGAAGAGGAGATTGGACCACATGATCTTATAGGAACCCCTCAGCTCTGAGGTCTGTGATCGCCGGACAGTCCAGGCCTGTCTGAACCCCACCACTCACTTCTGTGGGCTCTAGGACTGACTGGGTTCTTCCTCCCTCCCCGAAGCCCAGACAGTTCAGTTGGGCTGGGGGTTGCTCCACACCCTAAAACAAGCCTCAGCCAGGCAACCCGTCAGTCTGTCTCCATCCTTTCACCCCTTCCCTGGAGATGGGAGGTGGGGAATGAATGGAAGCTGACGGGCAGAGAGAGGAGGATTAAAAAAAAGAAATAGACATAACTGAGCTGAAGTAATTCCATAAAGGGCCCAGACAGCCTCCTCCACCATTCCCTTCATCATTCATTTAACAAATATTTATTTTGCACTCTCTTTGCGGCACTCTGGGGGCGGTGGGGTGCGTGGGGGTGGCAATGCAAGGCACTGAGGCCACAGATGTGAGTAAGCGAGACACAACACTTGTCCTCTTGGAGGTTACATTCTTGCTGGGGGGAGGCATGGGCAATAAACAAGTAAATATACAAACAAGGTCATTTCAGACAATGCTGTGTGCAGGCTGCTGGGTGTAGGGGGATTTATGGGGAGTGGGGCTCCTCAGACAAAGCCACTGTTTTTTCAGGGAAGGCCTCTGTGAGTTGTGATACCTATGCTGGGACCTGCATCATAAGCCATGCAAAGAGTATGGGTAAGGGCATTCCAGGCAGAGGCCATGTGAAGGCAGAAAGTGTGAGCTGAGAAAGATCTCTGCCTGCTGGAGAAACAGCAAAGGGGCCATTGTGATTGCAGTGAAGAAATCAAGGGACAGACTAGCAGGAGAGGTGTTCAGAGGGTGGGCAAAGGTCACATCGTGTGTCTCTCTAAGCCAAAGTAAGGAGTTGGGGTTTTATTAAAGAGGAATGGGAACCTTGAGATCCTTAAGCAGGGGAGTGTCCTGGTCCAAGTCTCACATGGATCGCTGATGGGGAACTGGCTGAAGGGGGATGAGGTGACAGCTGGTAAGCCAGTGAGGAATAACAACCATCTTCTAAGTCAGAGATGGGGCTTGGACTGGTTGTAAGCAGTGGGGATGTCGAGAAGGGCTCTGGTGCCAGAGCTCTAACCGCCCACCTTGTGCCTGAGCCCTCTGCCACAAGCCAGGACGAGTGGCCGTGCCCAGCAGCAACTGTCTGCAGAGACAGGAGGCACTCAGAGGAGTAATCCTGGGCAAGACCCAGCTCAGCCCAGCCCAGCGCCCCGGGGAGCAGGTGGGGCCAGGAGGCGCGGCTGGGAAAAGGGTGGCGGAGGAGGGCCCGGAGACTCACTGTCTGGATTCTGGTCTCTCTGAGTCCAGGCAGGGTATGTAAGTAAGGTGCAGGGGGCACATTCTTCCTGGGCCTCTTGTGCTCCCAGATCCCCATATCAGGGTGCTCCTTAGCAGGTCAGCAATCCTTCCCCACCCTCATGTCCCTGTGAGGACACTGTTGAGCAGTTTGGGTCCAGTGTTGCACTCTCCTTCGCTCTCGGATCTGATGTTTTCTGGAACAGACCCTCAAGGAGGAGGGCGGTGGAGAAGGGAGTGAGGTCAGGATCTCAGGGAAAGAACACTTTACCTACTGCATCCAGGCCTCTTGCTGCTCACACTTGAGGATCCCGCTGGCTGCCTCAATTTACCCTAGAATAGCACCCCTCTTGATGAACCAGGCAAGGATGAAGACTTGTTCCTTTCCCCAGTGATCAGCCAGCACAAATCCTCCATACTTTCCACCCCTGATCCATGTCTCCCTACCCCTGAGTAGAAGTGAGAAGGAAATGGGGGCCTCTTAGTGATACACCCCAGTAGGCCCACCAGCTGGAAGATTTGCCTCCATGAGCTTGCCCCTC 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Task1_train_5482 | This is a variant in IHH (Indian hedgehog signaling molecule), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | GGCCGCGAAGCAGGATGCCACCACATCCTCCACCACCAGTGTCCCATGCTTTGTGAGCGGGGCGTAGGCCCCGAGGGCCACGTGTGTAGAGACAGCTGCCACGCGGGCAGGCTGCAGGCCTGGCACCCCAGCCACCAGCACGTACTGGCCAGGCTGCACGTGGCTGGCAAATGTGGCCCGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGTTACTGCTGTGCAGCTCAGCCTCCTGGTCACAACGACCCTCCCTTGGCCACCCCAGCCAGCCAGAGCTCCTCTTGCTCCCAGAGAGCCCCCGTCACCATATCCCAGCTCCTGCCCCCCACTTCCTATGCAGGCTTGAACCCATACTTCACTGCCCCCATCCCCTTACTCCAATGTGATCTTCTGTGACCCCCCTCCCCAGCCTAATACCTTGCCAAGGAGCATAGTGGGGCTCCAAGACCCAGTGGATGAGAAGGAAAGGGCTACCTCATGGAAGGGGGAGGTTGCTTAGCTCCTCCGAGGCCTAGATGTTCTGTTATTTCTCACCCCTTGCTCAGACACTTCCCAAAAATTGCCCTCTCAGGCTGACTCCCCAGGTTCTGTAACAGAGCTGGACCTTTGAATGTAGGGATGTGAGAGGAGCCCACCCAGTGGGGCAAAGGCAGACTCCTGGGCAGCCTCGGAGTGAATGTTTGGGTCAGGGGCAGGCCAGGGGCGAGGACACAGTCACCATCTTCAGTTCACATGCTGAGTCCCTGTGCAGGGACAGAACACTGCGGCATCAGCAGGTGAGCTGGAGAACAGTGTTTGGGGGTCAGGAGTAATGAATGGAAGTGGTTGTCGTGGGTCAATGTTTGCAGTGAAGGGTGGATGGGCCTTGCAGTAGACACAGTTGGCAGGGGAAGTATTGAGTGGAAGGTTCAGGGTGTGGTTGTGGGTCAGGGTAGGGTCAGGAATATCAAAATGTGGGCCTGGGCTCAGTGTGCGGGTCTATGAGAGTGCAACTATTACACGCTGCCAGTGTGAAAGGCTGAGCCGGCAGCCAGGTGGGGCTTGGCTGGGAGCCACACAGGAACCATTTGGAGCCTCCATGGCTGGGTTCAGTGTAGGTGACAGGGTGCTGACAAGACTTGAGGGAGGGGTGAGGCCCCAGTGCCTGCCAATTCTGATCAACAATGCGGCCAATCTGGGAAAATCCACTTTATTGAGTCCACTTTGTTTAGTCTGGCTCTCCTGGCTGGCTTTGCCCCAAAATGTCCAGCTTCAGGGCACAGGGGGAGAGGTTGGGGACGCCTGCGCCCCAGGGAGGGCTGACCTGCAGCTGGGTGGTGGGTTCTGAGCCTCTGGGCTCCTGGTCAGGCATGCAGGTGTCTGGGCATACCCCGGCTCCTGGCCCCACCACCCGCCTTGTTCTGTGCCAGGTGGGGTGGGGAGGCCTTGTCTGGCAGCCTGGCTTCCTCCATCTGTCCAGCTTGCTCTGTCTTGCACCTCCTGTGGCAGGCTCTGGACTGTGGGCCACCAGGTCAGCACCCAGCAGCCCTGGGACAGGGCCCTATCGCCCTAGGCTCCTACCATGACACTGCCAGGCATGGGATGAGCAGGCAGTCACGGTCAGGAGCAGCCTTGGAGAGCGCCGCTGATGTCCTCTTCCCCCGGATCCCTGCCTCCATCCCCGGGCGGGCTCTTCACCTTCTCGGCACTACTCCTCCTGCCCATGCCCTGCGGCCCCGGCCCCGGGCCCAGCCCCCCGGCGGCGGCTCACCGGACTTGACGGAGCAATGCACGTGGGCCTTTGACTCGTAATACACCCAGTCAAAGCCGGCCTCCACTGCCAAGCGCGCCAGCAGTCCATACTTATTGCGGTCGCGGTCTGATGTGGTGATGTCCACCGCGCGGCCCTCATAATGCAGGGACTCCTCTGAGTGGTGGCCGTCCTCGTCCCAGCCCTCGGTCACCCGCAGCTTCACACCGGGCCACTGGTTCATCACCGAGATAGCCAGCGAGTTCAGGCGGTCCTTGCAGCGCTGGGAGAGGAATGTGCGCGAAATCAACCAGAGCGAAATCAGCCGGAGGAGCCGGCCGAGGTGCAGGTGTAGGCGCAGCCTCGCCCAGAACTCTCCCGCCACACCCAAGGGAGCTGGAAGCCCGGGAGGGTGCTGTCCCTCTCCCTTAGGAACAGAGGGCCCTGAAGTGCTCCCTCCCTAGCATACAGCCGCCCCCGGGGATCTGGACCGCACGGCGGTATCACAAATCTGGAGGAGGCATGGAGGCAAGCGCCCTGGCGGCGCCTTCACTGGTAGGTGGAGGTCCCCTCTCTCCTGTGCTGTCTTCAGCTCCGGGTATCCATCCCTCCACAGACAGGACTACACCTTTCAGCGCCCGGTCCCTCTGTGCCTCCAAGGCAGGAGGGCCAGCCAGCGGCCGGGAGGGAGGAGTGGCAGCAGAGCCGACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCA 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GGCCGCGAAGCAGGATGCCACCACATCCTCCACCACCAGTGTCCCATGCTTTGTGAGCGGGGCGTAGGCCCCGAGGGCCACGTGTGTAGAGACAGCTGCCACGCGGGCAGGCTGCAGGCCTGGCACCCCAGCCACCAGCACGTACTGGCCAGGCTGCACGTGGCTGGCAAATGTGGCCCGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGTTACTGCTGTGCAGCTCAGCCTCCTGGTCACAACGACCCTCCCTTGGCCACCCCAGCCAGCCAGAGCTCCTCTTGCTCCCAGAGAGCCCCCGTCACCATATCCCAGCTCCTGCCCCCCACTTCCTATGCAGGCTTGAACCCATACTTCACTGCCCCCATCCCCTTACTCCAATGTGATCTTCTGTGACCCCCCTCCCCAGCCTAATACCTTGCCAAGGAGCATAGTGGGGCTCCAAGACCCAGTGGATGAGAAGGAAAGGGCTACCTCATGGAAGGGGGAGGTTGCTTAGCTCCTCCGAGGCCTAGATGTTCTGTTATTTCTCACCCCTTGCTCAGACACTTCCCAAAAATTGCCCTCTCAGGCTGACTCCCCAGGTTCTGTAACAGAGCTGGACCTTTGAATGTAGGGATGTGAGAGGAGCCCACCCAGTGGGGCAAAGGCAGACTCCTGGGCAGCCTCGGAGTGAATGTTTGGGTCAGGGGCAGGCCAGGGGCGAGGACACAGTCACCATCTTCAGTTCACATGCTGAGTCCCTGTGCAGGGACAGAACACTGCGGCATCAGCAGGTGAGCTGGAGAACAGTGTTTGGGGGTCAGGAGTAATGAATGGAAGTGGTTGTCGTGGGTCAATGTTTGCAGTGAAGGGTGGATGGGCCTTGCAGTAGACACAGTTGGCAGGGGAAGTATTGAGTGGAAGGTTCAGGGTGTGGTTGTGGGTCAGGGTAGGGTCAGGAATATCAAAATGTGGGCCTGGGCTCAGTGTGCGGGTCTATGAGAGTGCAACTATTACACGCTGCCAGTGTGAAAGGCTGAGCCGGCAGCCAGGTGGGGCTTGGCTGGGAGCCACACAGGAACCATTTGGAGCCTCCATGGCTGGGTTCAGTGTAGGTGACAGGGTGCTGACAAGACTTGAGGGAGGGGTGAGGCCCCAGTGCCTGCCAATTCTGATCAACAATGCGGCCAATCTGGGAAAATCCACTTTATTGAGTCCACTTTGTTTAGTCTGGCTCTCCTGGCTGGCTTTGCCCCAAAATGTCCAGCTTCAGGGCACAGGGGGAGAGGTTGGGGACGCCTGCGCCCCAGGGAGGGCTGACCTGCAGCTGGGTGGTGGGTTCTGAGCCTCTGGGCTCCTGGTCAGGCATGCAGGTGTCTGGGCATACCCCGGCTCCTGGCCCCACCACCCGCCTTGTTCTGTGCCAGGTGGGGTGGGGAGGCCTTGTCTGGCAGCCTGGCTTCCTCCATCTGTCCAGCTTGCTCTGTCTTGCACCTCCTGTGGCAGGCTCTGGACTGTGGGCCACCAGGTCAGCACCCAGCAGCCCTGGGACAGGGCCCTATCGCCCTAGGCTCCTACCATGACACTGCCAGGCATGGGATGAGCAGGCAGTCACGGTCAGGAGCAGCCTTGGAGAGCGCCGCTGATGTCCTCTTCCCCCGGATCCCTGCCTCCATCCCCGGGCGGGCTCTTCACCTTCTCGGCACTACTCCTCCTGCCCATGCCCTGCGGCCCCGGCCCCGGGCCCAGCCCCCCGGCGGCGGCTCACCGGACTTGGCGGAGCAATGCACGTGGGCCTTTGACTCGTAATACACCCAGTCAAAGCCGGCCTCCACTGCCAAGCGCGCCAGCAGTCCATACTTATTGCGGTCGCGGTCTGATGTGGTGATGTCCACCGCGCGGCCCTCATAATGCAGGGACTCCTCTGAGTGGTGGCCGTCCTCGTCCCAGCCCTCGGTCACCCGCAGCTTCACACCGGGCCACTGGTTCATCACCGAGATAGCCAGCGAGTTCAGGCGGTCCTTGCAGCGCTGGGAGAGGAATGTGCGCGAAATCAACCAGAGCGAAATCAGCCGGAGGAGCCGGCCGAGGTGCAGGTGTAGGCGCAGCCTCGCCCAGAACTCTCCCGCCACACCCAAGGGAGCTGGAAGCCCGGGAGGGTGCTGTCCCTCTCCCTTAGGAACAGAGGGCCCTGAAGTGCTCCCTCCCTAGCATACAGCCGCCCCCGGGGATCTGGACCGCACGGCGGTATCACAAATCTGGAGGAGGCATGGAGGCAAGCGCCCTGGCGGCGCCTTCACTGGTAGGTGGAGGTCCCCTCTCTCCTGTGCTGTCTTCAGCTCCGGGTATCCATCCCTCCACAGACAGGACTACACCTTTCAGCGCCCGGTCCCTCTGTGCCTCCAAGGCAGGAGGGCCAGCCAGCGGCCGGGAGGGAGGAGTGGCAGCAGAGCCGACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCA 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Task1_train_5483 | The following genetic variant occurs in IHH (Indian hedgehog signaling molecule) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Brachydactyly type A1 | AGGCTGCAGGCCTGGCACCCCAGCCACCAGCACGTACTGGCCAGGCTGCACGTGGCTGGCAAATGTGGCCCGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGTTACTGCTGTGCAGCTCAGCCTCCTGGTCACAACGACCCTCCCTTGGCCACCCCAGCCAGCCAGAGCTCCTCTTGCTCCCAGAGAGCCCCCGTCACCATATCCCAGCTCCTGCCCCCCACTTCCTATGCAGGCTTGAACCCATACTTCACTGCCCCCATCCCCTTACTCCAATGTGATCTTCTGTGACCCCCCTCCCCAGCCTAATACCTTGCCAAGGAGCATAGTGGGGCTCCAAGACCCAGTGGATGAGAAGGAAAGGGCTACCTCATGGAAGGGGGAGGTTGCTTAGCTCCTCCGAGGCCTAGATGTTCTGTTATTTCTCACCCCTTGCTCAGACACTTCCCAAAAATTGCCCTCTCAGGCTGACTCCCCAGGTTCTGTAACAGAGCTGGACCTTTGAATGTAGGGATGTGAGAGGAGCCCACCCAGTGGGGCAAAGGCAGACTCCTGGGCAGCCTCGGAGTGAATGTTTGGGTCAGGGGCAGGCCAGGGGCGAGGACACAGTCACCATCTTCAGTTCACATGCTGAGTCCCTGTGCAGGGACAGAACACTGCGGCATCAGCAGGTGAGCTGGAGAACAGTGTTTGGGGGTCAGGAGTAATGAATGGAAGTGGTTGTCGTGGGTCAATGTTTGCAGTGAAGGGTGGATGGGCCTTGCAGTAGACACAGTTGGCAGGGGAAGTATTGAGTGGAAGGTTCAGGGTGTGGTTGTGGGTCAGGGTAGGGTCAGGAATATCAAAATGTGGGCCTGGGCTCAGTGTGCGGGTCTATGAGAGTGCAACTATTACACGCTGCCAGTGTGAAAGGCTGAGCCGGCAGCCAGGTGGGGCTTGGCTGGGAGCCACACAGGAACCATTTGGAGCCTCCATGGCTGGGTTCAGTGTAGGTGACAGGGTGCTGACAAGACTTGAGGGAGGGGTGAGGCCCCAGTGCCTGCCAATTCTGATCAACAATGCGGCCAATCTGGGAAAATCCACTTTATTGAGTCCACTTTGTTTAGTCTGGCTCTCCTGGCTGGCTTTGCCCCAAAATGTCCAGCTTCAGGGCACAGGGGGAGAGGTTGGGGACGCCTGCGCCCCAGGGAGGGCTGACCTGCAGCTGGGTGGTGGGTTCTGAGCCTCTGGGCTCCTGGTCAGGCATGCAGGTGTCTGGGCATACCCCGGCTCCTGGCCCCACCACCCGCCTTGTTCTGTGCCAGGTGGGGTGGGGAGGCCTTGTCTGGCAGCCTGGCTTCCTCCATCTGTCCAGCTTGCTCTGTCTTGCACCTCCTGTGGCAGGCTCTGGACTGTGGGCCACCAGGTCAGCACCCAGCAGCCCTGGGACAGGGCCCTATCGCCCTAGGCTCCTACCATGACACTGCCAGGCATGGGATGAGCAGGCAGTCACGGTCAGGAGCAGCCTTGGAGAGCGCCGCTGATGTCCTCTTCCCCCGGATCCCTGCCTCCATCCCCGGGCGGGCTCTTCACCTTCTCGGCACTACTCCTCCTGCCCATGCCCTGCGGCCCCGGCCCCGGGCCCAGCCCCCCGGCGGCGGCTCACCGGACTTGACGGAGCAATGCACGTGGGCCTTTGACTCGTAATACACCCAGTCAAAGCCGGCCTCCACTGCCAAGCGCGCCAGCAGTCCATACTTATTGCGGTCGCGGTCTGATGTGGTGATGTCCACCGCGCGGCCCTCATAATGCAGGGACTCCTCTGAGTGGTGGCCGTCCTCGTCCCAGCCCTCGGTCACCCGCAGCTTCACACCGGGCCACTGGTTCATCACCGAGATAGCCAGCGAGTTCAGGCGGTCCTTGCAGCGCTGGGAGAGGAATGTGCGCGAAATCAACCAGAGCGAAATCAGCCGGAGGAGCCGGCCGAGGTGCAGGTGTAGGCGCAGCCTCGCCCAGAACTCTCCCGCCACACCCAAGGGAGCTGGAAGCCCGGGAGGGTGCTGTCCCTCTCCCTTAGGAACAGAGGGCCCTGAAGTGCTCCCTCCCTAGCATACAGCCGCCCCCGGGGATCTGGACCGCACGGCGGTATCACAAATCTGGAGGAGGCATGGAGGCAAGCGCCCTGGCGGCGCCTTCACTGGTAGGTGGAGGTCCCCTCTCTCCTGTGCTGTCTTCAGCTCCGGGTATCCATCCCTCCACAGACAGGACTACACCTTTCAGCGCCCGGTCCCTCTGTGCCTCCAAGGCAGGAGGGCCAGCCAGCGGCCGGGAGGGAGGAGTGGCAGCAGAGCCGACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCC 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AGGCTGCAGGCCTGGCACCCCAGCCACCAGCACGTACTGGCCAGGCTGCACGTGGCTGGCAAATGTGGCCCGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGTTACTGCTGTGCAGCTCAGCCTCCTGGTCACAACGACCCTCCCTTGGCCACCCCAGCCAGCCAGAGCTCCTCTTGCTCCCAGAGAGCCCCCGTCACCATATCCCAGCTCCTGCCCCCCACTTCCTATGCAGGCTTGAACCCATACTTCACTGCCCCCATCCCCTTACTCCAATGTGATCTTCTGTGACCCCCCTCCCCAGCCTAATACCTTGCCAAGGAGCATAGTGGGGCTCCAAGACCCAGTGGATGAGAAGGAAAGGGCTACCTCATGGAAGGGGGAGGTTGCTTAGCTCCTCCGAGGCCTAGATGTTCTGTTATTTCTCACCCCTTGCTCAGACACTTCCCAAAAATTGCCCTCTCAGGCTGACTCCCCAGGTTCTGTAACAGAGCTGGACCTTTGAATGTAGGGATGTGAGAGGAGCCCACCCAGTGGGGCAAAGGCAGACTCCTGGGCAGCCTCGGAGTGAATGTTTGGGTCAGGGGCAGGCCAGGGGCGAGGACACAGTCACCATCTTCAGTTCACATGCTGAGTCCCTGTGCAGGGACAGAACACTGCGGCATCAGCAGGTGAGCTGGAGAACAGTGTTTGGGGGTCAGGAGTAATGAATGGAAGTGGTTGTCGTGGGTCAATGTTTGCAGTGAAGGGTGGATGGGCCTTGCAGTAGACACAGTTGGCAGGGGAAGTATTGAGTGGAAGGTTCAGGGTGTGGTTGTGGGTCAGGGTAGGGTCAGGAATATCAAAATGTGGGCCTGGGCTCAGTGTGCGGGTCTATGAGAGTGCAACTATTACACGCTGCCAGTGTGAAAGGCTGAGCCGGCAGCCAGGTGGGGCTTGGCTGGGAGCCACACAGGAACCATTTGGAGCCTCCATGGCTGGGTTCAGTGTAGGTGACAGGGTGCTGACAAGACTTGAGGGAGGGGTGAGGCCCCAGTGCCTGCCAATTCTGATCAACAATGCGGCCAATCTGGGAAAATCCACTTTATTGAGTCCACTTTGTTTAGTCTGGCTCTCCTGGCTGGCTTTGCCCCAAAATGTCCAGCTTCAGGGCACAGGGGGAGAGGTTGGGGACGCCTGCGCCCCAGGGAGGGCTGACCTGCAGCTGGGTGGTGGGTTCTGAGCCTCTGGGCTCCTGGTCAGGCATGCAGGTGTCTGGGCATACCCCGGCTCCTGGCCCCACCACCCGCCTTGTTCTGTGCCAGGTGGGGTGGGGAGGCCTTGTCTGGCAGCCTGGCTTCCTCCATCTGTCCAGCTTGCTCTGTCTTGCACCTCCTGTGGCAGGCTCTGGACTGTGGGCCACCAGGTCAGCACCCAGCAGCCCTGGGACAGGGCCCTATCGCCCTAGGCTCCTACCATGACACTGCCAGGCATGGGATGAGCAGGCAGTCACGGTCAGGAGCAGCCTTGGAGAGCGCCGCTGATGTCCTCTTCCCCCGGATCCCTGCCTCCATCCCCGGGCGGGCTCTTCACCTTCTCGGCACTACTCCTCCTGCCCATGCCCTGCGGCCCCGGCCCCGGGCCCAGCCCCCCGGCGGCGGCTCACCGGACTTGACGGAGCAATGCACGTGGGCCTTTGACTCGTAATACACCCAGTCAAAGCCGGCCTCCACTGCCAAGCGCGCCAGCAGTCCATACTTATTGCGGTCGCGGTCTGATGTGATGATGTCCACCGCGCGGCCCTCATAATGCAGGGACTCCTCTGAGTGGTGGCCGTCCTCGTCCCAGCCCTCGGTCACCCGCAGCTTCACACCGGGCCACTGGTTCATCACCGAGATAGCCAGCGAGTTCAGGCGGTCCTTGCAGCGCTGGGAGAGGAATGTGCGCGAAATCAACCAGAGCGAAATCAGCCGGAGGAGCCGGCCGAGGTGCAGGTGTAGGCGCAGCCTCGCCCAGAACTCTCCCGCCACACCCAAGGGAGCTGGAAGCCCGGGAGGGTGCTGTCCCTCTCCCTTAGGAACAGAGGGCCCTGAAGTGCTCCCTCCCTAGCATACAGCCGCCCCCGGGGATCTGGACCGCACGGCGGTATCACAAATCTGGAGGAGGCATGGAGGCAAGCGCCCTGGCGGCGCCTTCACTGGTAGGTGGAGGTCCCCTCTCTCCTGTGCTGTCTTCAGCTCCGGGTATCCATCCCTCCACAGACAGGACTACACCTTTCAGCGCCCGGTCCCTCTGTGCCTCCAAGGCAGGAGGGCCAGCCAGCGGCCGGGAGGGAGGAGTGGCAGCAGAGCCGACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCC 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Task1_train_5484 | Here is a genetic alteration in IHH (Indian hedgehog signaling molecule) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | CGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGTTACTGCTGTGCAGCTCAGCCTCCTGGTCACAACGACCCTCCCTTGGCCACCCCAGCCAGCCAGAGCTCCTCTTGCTCCCAGAGAGCCCCCGTCACCATATCCCAGCTCCTGCCCCCCACTTCCTATGCAGGCTTGAACCCATACTTCACTGCCCCCATCCCCTTACTCCAATGTGATCTTCTGTGACCCCCCTCCCCAGCCTAATACCTTGCCAAGGAGCATAGTGGGGCTCCAAGACCCAGTGGATGAGAAGGAAAGGGCTACCTCATGGAAGGGGGAGGTTGCTTAGCTCCTCCGAGGCCTAGATGTTCTGTTATTTCTCACCCCTTGCTCAGACACTTCCCAAAAATTGCCCTCTCAGGCTGACTCCCCAGGTTCTGTAACAGAGCTGGACCTTTGAATGTAGGGATGTGAGAGGAGCCCACCCAGTGGGGCAAAGGCAGACTCCTGGGCAGCCTCGGAGTGAATGTTTGGGTCAGGGGCAGGCCAGGGGCGAGGACACAGTCACCATCTTCAGTTCACATGCTGAGTCCCTGTGCAGGGACAGAACACTGCGGCATCAGCAGGTGAGCTGGAGAACAGTGTTTGGGGGTCAGGAGTAATGAATGGAAGTGGTTGTCGTGGGTCAATGTTTGCAGTGAAGGGTGGATGGGCCTTGCAGTAGACACAGTTGGCAGGGGAAGTATTGAGTGGAAGGTTCAGGGTGTGGTTGTGGGTCAGGGTAGGGTCAGGAATATCAAAATGTGGGCCTGGGCTCAGTGTGCGGGTCTATGAGAGTGCAACTATTACACGCTGCCAGTGTGAAAGGCTGAGCCGGCAGCCAGGTGGGGCTTGGCTGGGAGCCACACAGGAACCATTTGGAGCCTCCATGGCTGGGTTCAGTGTAGGTGACAGGGTGCTGACAAGACTTGAGGGAGGGGTGAGGCCCCAGTGCCTGCCAATTCTGATCAACAATGCGGCCAATCTGGGAAAATCCACTTTATTGAGTCCACTTTGTTTAGTCTGGCTCTCCTGGCTGGCTTTGCCCCAAAATGTCCAGCTTCAGGGCACAGGGGGAGAGGTTGGGGACGCCTGCGCCCCAGGGAGGGCTGACCTGCAGCTGGGTGGTGGGTTCTGAGCCTCTGGGCTCCTGGTCAGGCATGCAGGTGTCTGGGCATACCCCGGCTCCTGGCCCCACCACCCGCCTTGTTCTGTGCCAGGTGGGGTGGGGAGGCCTTGTCTGGCAGCCTGGCTTCCTCCATCTGTCCAGCTTGCTCTGTCTTGCACCTCCTGTGGCAGGCTCTGGACTGTGGGCCACCAGGTCAGCACCCAGCAGCCCTGGGACAGGGCCCTATCGCCCTAGGCTCCTACCATGACACTGCCAGGCATGGGATGAGCAGGCAGTCACGGTCAGGAGCAGCCTTGGAGAGCGCCGCTGATGTCCTCTTCCCCCGGATCCCTGCCTCCATCCCCGGGCGGGCTCTTCACCTTCTCGGCACTACTCCTCCTGCCCATGCCCTGCGGCCCCGGCCCCGGGCCCAGCCCCCCGGCGGCGGCTCACCGGACTTGACGGAGCAATGCACGTGGGCCTTTGACTCGTAATACACCCAGTCAAAGCCGGCCTCCACTGCCAAGCGCGCCAGCAGTCCATACTTATTGCGGTCGCGGTCTGATGTGGTGATGTCCACCGCGCGGCCCTCATAATGCAGGGACTCCTCTGAGTGGTGGCCGTCCTCGTCCCAGCCCTCGGTCACCCGCAGCTTCACACCGGGCCACTGGTTCATCACCGAGATAGCCAGCGAGTTCAGGCGGTCCTTGCAGCGCTGGGAGAGGAATGTGCGCGAAATCAACCAGAGCGAAATCAGCCGGAGGAGCCGGCCGAGGTGCAGGTGTAGGCGCAGCCTCGCCCAGAACTCTCCCGCCACACCCAAGGGAGCTGGAAGCCCGGGAGGGTGCTGTCCCTCTCCCTTAGGAACAGAGGGCCCTGAAGTGCTCCCTCCCTAGCATACAGCCGCCCCCGGGGATCTGGACCGCACGGCGGTATCACAAATCTGGAGGAGGCATGGAGGCAAGCGCCCTGGCGGCGCCTTCACTGGTAGGTGGAGGTCCCCTCTCTCCTGTGCTGTCTTCAGCTCCGGGTATCCATCCCTCCACAGACAGGACTACACCTTTCAGCGCCCGGTCCCTCTGTGCCTCCAAGGCAGGAGGGCCAGCCAGCGGCCGGGAGGGAGGAGTGGCAGCAGAGCCGACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGG 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CGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGTTACTGCTGTGCAGCTCAGCCTCCTGGTCACAACGACCCTCCCTTGGCCACCCCAGCCAGCCAGAGCTCCTCTTGCTCCCAGAGAGCCCCCGTCACCATATCCCAGCTCCTGCCCCCCACTTCCTATGCAGGCTTGAACCCATACTTCACTGCCCCCATCCCCTTACTCCAATGTGATCTTCTGTGACCCCCCTCCCCAGCCTAATACCTTGCCAAGGAGCATAGTGGGGCTCCAAGACCCAGTGGATGAGAAGGAAAGGGCTACCTCATGGAAGGGGGAGGTTGCTTAGCTCCTCCGAGGCCTAGATGTTCTGTTATTTCTCACCCCTTGCTCAGACACTTCCCAAAAATTGCCCTCTCAGGCTGACTCCCCAGGTTCTGTAACAGAGCTGGACCTTTGAATGTAGGGATGTGAGAGGAGCCCACCCAGTGGGGCAAAGGCAGACTCCTGGGCAGCCTCGGAGTGAATGTTTGGGTCAGGGGCAGGCCAGGGGCGAGGACACAGTCACCATCTTCAGTTCACATGCTGAGTCCCTGTGCAGGGACAGAACACTGCGGCATCAGCAGGTGAGCTGGAGAACAGTGTTTGGGGGTCAGGAGTAATGAATGGAAGTGGTTGTCGTGGGTCAATGTTTGCAGTGAAGGGTGGATGGGCCTTGCAGTAGACACAGTTGGCAGGGGAAGTATTGAGTGGAAGGTTCAGGGTGTGGTTGTGGGTCAGGGTAGGGTCAGGAATATCAAAATGTGGGCCTGGGCTCAGTGTGCGGGTCTATGAGAGTGCAACTATTACACGCTGCCAGTGTGAAAGGCTGAGCCGGCAGCCAGGTGGGGCTTGGCTGGGAGCCACACAGGAACCATTTGGAGCCTCCATGGCTGGGTTCAGTGTAGGTGACAGGGTGCTGACAAGACTTGAGGGAGGGGTGAGGCCCCAGTGCCTGCCAATTCTGATCAACAATGCGGCCAATCTGGGAAAATCCACTTTATTGAGTCCACTTTGTTTAGTCTGGCTCTCCTGGCTGGCTTTGCCCCAAAATGTCCAGCTTCAGGGCACAGGGGGAGAGGTTGGGGACGCCTGCGCCCCAGGGAGGGCTGACCTGCAGCTGGGTGGTGGGTTCTGAGCCTCTGGGCTCCTGGTCAGGCATGCAGGTGTCTGGGCATACCCCGGCTCCTGGCCCCACCACCCGCCTTGTTCTGTGCCAGGTGGGGTGGGGAGGCCTTGTCTGGCAGCCTGGCTTCCTCCATCTGTCCAGCTTGCTCTGTCTTGCACCTCCTGTGGCAGGCTCTGGACTGTGGGCCACCAGGTCAGCACCCAGCAGCCCTGGGACAGGGCCCTATCGCCCTAGGCTCCTACCATGACACTGCCAGGCATGGGATGAGCAGGCAGTCACGGTCAGGAGCAGCCTTGGAGAGCGCCGCTGATGTCCTCTTCCCCCGGATCCCTGCCTCCATCCCCGGGCGGGCTCTTCACCTTCTCGGCACTACTCCTCCTGCCCATGCCCTGCGGCCCCGGCCCCGGGCCCAGCCCCCCGGCGGCGGCTCACCGGACTTGACGGAGCAATGCACGTGGGCCTTTGACTCGTAATACACCCAGTCAAAGCCGGCCTCCACTGCCAAGCGCGCCAGCAGTCCATACTTATTGCGGTCGCGGTCTGATGTGGTGATGTCCACCGCGCGGCCCTCATAATGCAGGGACTCCTCTGAGTGGTGGCCGTCCTCGTCCCAGCCCTTGGTCACCCGCAGCTTCACACCGGGCCACTGGTTCATCACCGAGATAGCCAGCGAGTTCAGGCGGTCCTTGCAGCGCTGGGAGAGGAATGTGCGCGAAATCAACCAGAGCGAAATCAGCCGGAGGAGCCGGCCGAGGTGCAGGTGTAGGCGCAGCCTCGCCCAGAACTCTCCCGCCACACCCAAGGGAGCTGGAAGCCCGGGAGGGTGCTGTCCCTCTCCCTTAGGAACAGAGGGCCCTGAAGTGCTCCCTCCCTAGCATACAGCCGCCCCCGGGGATCTGGACCGCACGGCGGTATCACAAATCTGGAGGAGGCATGGAGGCAAGCGCCCTGGCGGCGCCTTCACTGGTAGGTGGAGGTCCCCTCTCTCCTGTGCTGTCTTCAGCTCCGGGTATCCATCCCTCCACAGACAGGACTACACCTTTCAGCGCCCGGTCCCTCTGTGCCTCCAAGGCAGGAGGGCCAGCCAGCGGCCGGGAGGGAGGAGTGGCAGCAGAGCCGACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGG 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Task1_train_5485 | This alteration in IHH (Indian hedgehog signaling molecule) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Brachydactyly type A1 | GAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGTTACTGCTGTGCAGCTCAGCCTCCTGGTCACAACGACCCTCCCTTGGCCACCCCAGCCAGCCAGAGCTCCTCTTGCTCCCAGAGAGCCCCCGTCACCATATCCCAGCTCCTGCCCCCCACTTCCTATGCAGGCTTGAACCCATACTTCACTGCCCCCATCCCCTTACTCCAATGTGATCTTCTGTGACCCCCCTCCCCAGCCTAATACCTTGCCAAGGAGCATAGTGGGGCTCCAAGACCCAGTGGATGAGAAGGAAAGGGCTACCTCATGGAAGGGGGAGGTTGCTTAGCTCCTCCGAGGCCTAGATGTTCTGTTATTTCTCACCCCTTGCTCAGACACTTCCCAAAAATTGCCCTCTCAGGCTGACTCCCCAGGTTCTGTAACAGAGCTGGACCTTTGAATGTAGGGATGTGAGAGGAGCCCACCCAGTGGGGCAAAGGCAGACTCCTGGGCAGCCTCGGAGTGAATGTTTGGGTCAGGGGCAGGCCAGGGGCGAGGACACAGTCACCATCTTCAGTTCACATGCTGAGTCCCTGTGCAGGGACAGAACACTGCGGCATCAGCAGGTGAGCTGGAGAACAGTGTTTGGGGGTCAGGAGTAATGAATGGAAGTGGTTGTCGTGGGTCAATGTTTGCAGTGAAGGGTGGATGGGCCTTGCAGTAGACACAGTTGGCAGGGGAAGTATTGAGTGGAAGGTTCAGGGTGTGGTTGTGGGTCAGGGTAGGGTCAGGAATATCAAAATGTGGGCCTGGGCTCAGTGTGCGGGTCTATGAGAGTGCAACTATTACACGCTGCCAGTGTGAAAGGCTGAGCCGGCAGCCAGGTGGGGCTTGGCTGGGAGCCACACAGGAACCATTTGGAGCCTCCATGGCTGGGTTCAGTGTAGGTGACAGGGTGCTGACAAGACTTGAGGGAGGGGTGAGGCCCCAGTGCCTGCCAATTCTGATCAACAATGCGGCCAATCTGGGAAAATCCACTTTATTGAGTCCACTTTGTTTAGTCTGGCTCTCCTGGCTGGCTTTGCCCCAAAATGTCCAGCTTCAGGGCACAGGGGGAGAGGTTGGGGACGCCTGCGCCCCAGGGAGGGCTGACCTGCAGCTGGGTGGTGGGTTCTGAGCCTCTGGGCTCCTGGTCAGGCATGCAGGTGTCTGGGCATACCCCGGCTCCTGGCCCCACCACCCGCCTTGTTCTGTGCCAGGTGGGGTGGGGAGGCCTTGTCTGGCAGCCTGGCTTCCTCCATCTGTCCAGCTTGCTCTGTCTTGCACCTCCTGTGGCAGGCTCTGGACTGTGGGCCACCAGGTCAGCACCCAGCAGCCCTGGGACAGGGCCCTATCGCCCTAGGCTCCTACCATGACACTGCCAGGCATGGGATGAGCAGGCAGTCACGGTCAGGAGCAGCCTTGGAGAGCGCCGCTGATGTCCTCTTCCCCCGGATCCCTGCCTCCATCCCCGGGCGGGCTCTTCACCTTCTCGGCACTACTCCTCCTGCCCATGCCCTGCGGCCCCGGCCCCGGGCCCAGCCCCCCGGCGGCGGCTCACCGGACTTGACGGAGCAATGCACGTGGGCCTTTGACTCGTAATACACCCAGTCAAAGCCGGCCTCCACTGCCAAGCGCGCCAGCAGTCCATACTTATTGCGGTCGCGGTCTGATGTGGTGATGTCCACCGCGCGGCCCTCATAATGCAGGGACTCCTCTGAGTGGTGGCCGTCCTCGTCCCAGCCCTCGGTCACCCGCAGCTTCACACCGGGCCACTGGTTCATCACCGAGATAGCCAGCGAGTTCAGGCGGTCCTTGCAGCGCTGGGAGAGGAATGTGCGCGAAATCAACCAGAGCGAAATCAGCCGGAGGAGCCGGCCGAGGTGCAGGTGTAGGCGCAGCCTCGCCCAGAACTCTCCCGCCACACCCAAGGGAGCTGGAAGCCCGGGAGGGTGCTGTCCCTCTCCCTTAGGAACAGAGGGCCCTGAAGTGCTCCCTCCCTAGCATACAGCCGCCCCCGGGGATCTGGACCGCACGGCGGTATCACAAATCTGGAGGAGGCATGGAGGCAAGCGCCCTGGCGGCGCCTTCACTGGTAGGTGGAGGTCCCCTCTCTCCTGTGCTGTCTTCAGCTCCGGGTATCCATCCCTCCACAGACAGGACTACACCTTTCAGCGCCCGGTCCCTCTGTGCCTCCAAGGCAGGAGGGCCAGCCAGCGGCCGGGAGGGAGGAGTGGCAGCAGAGCCGACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCA 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GAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGTTACTGCTGTGCAGCTCAGCCTCCTGGTCACAACGACCCTCCCTTGGCCACCCCAGCCAGCCAGAGCTCCTCTTGCTCCCAGAGAGCCCCCGTCACCATATCCCAGCTCCTGCCCCCCACTTCCTATGCAGGCTTGAACCCATACTTCACTGCCCCCATCCCCTTACTCCAATGTGATCTTCTGTGACCCCCCTCCCCAGCCTAATACCTTGCCAAGGAGCATAGTGGGGCTCCAAGACCCAGTGGATGAGAAGGAAAGGGCTACCTCATGGAAGGGGGAGGTTGCTTAGCTCCTCCGAGGCCTAGATGTTCTGTTATTTCTCACCCCTTGCTCAGACACTTCCCAAAAATTGCCCTCTCAGGCTGACTCCCCAGGTTCTGTAACAGAGCTGGACCTTTGAATGTAGGGATGTGAGAGGAGCCCACCCAGTGGGGCAAAGGCAGACTCCTGGGCAGCCTCGGAGTGAATGTTTGGGTCAGGGGCAGGCCAGGGGCGAGGACACAGTCACCATCTTCAGTTCACATGCTGAGTCCCTGTGCAGGGACAGAACACTGCGGCATCAGCAGGTGAGCTGGAGAACAGTGTTTGGGGGTCAGGAGTAATGAATGGAAGTGGTTGTCGTGGGTCAATGTTTGCAGTGAAGGGTGGATGGGCCTTGCAGTAGACACAGTTGGCAGGGGAAGTATTGAGTGGAAGGTTCAGGGTGTGGTTGTGGGTCAGGGTAGGGTCAGGAATATCAAAATGTGGGCCTGGGCTCAGTGTGCGGGTCTATGAGAGTGCAACTATTACACGCTGCCAGTGTGAAAGGCTGAGCCGGCAGCCAGGTGGGGCTTGGCTGGGAGCCACACAGGAACCATTTGGAGCCTCCATGGCTGGGTTCAGTGTAGGTGACAGGGTGCTGACAAGACTTGAGGGAGGGGTGAGGCCCCAGTGCCTGCCAATTCTGATCAACAATGCGGCCAATCTGGGAAAATCCACTTTATTGAGTCCACTTTGTTTAGTCTGGCTCTCCTGGCTGGCTTTGCCCCAAAATGTCCAGCTTCAGGGCACAGGGGGAGAGGTTGGGGACGCCTGCGCCCCAGGGAGGGCTGACCTGCAGCTGGGTGGTGGGTTCTGAGCCTCTGGGCTCCTGGTCAGGCATGCAGGTGTCTGGGCATACCCCGGCTCCTGGCCCCACCACCCGCCTTGTTCTGTGCCAGGTGGGGTGGGGAGGCCTTGTCTGGCAGCCTGGCTTCCTCCATCTGTCCAGCTTGCTCTGTCTTGCACCTCCTGTGGCAGGCTCTGGACTGTGGGCCACCAGGTCAGCACCCAGCAGCCCTGGGACAGGGCCCTATCGCCCTAGGCTCCTACCATGACACTGCCAGGCATGGGATGAGCAGGCAGTCACGGTCAGGAGCAGCCTTGGAGAGCGCCGCTGATGTCCTCTTCCCCCGGATCCCTGCCTCCATCCCCGGGCGGGCTCTTCACCTTCTCGGCACTACTCCTCCTGCCCATGCCCTGCGGCCCCGGCCCCGGGCCCAGCCCCCCGGCGGCGGCTCACCGGACTTGACGGAGCAATGCACGTGGGCCTTTGACTCGTAATACACCCAGTCAAAGCCGGCCTCCACTGCCAAGCGCGCCAGCAGTCCATACTTATTGCGGTCGCGGTCTGATGTGGTGATGTCCACCGCGCGGCCCTCATAATGCAGGGACTCCTCTGAGTGGTGGCCGTCCTCGTCCCAGCCCTCGTTCACCCGCAGCTTCACACCGGGCCACTGGTTCATCACCGAGATAGCCAGCGAGTTCAGGCGGTCCTTGCAGCGCTGGGAGAGGAATGTGCGCGAAATCAACCAGAGCGAAATCAGCCGGAGGAGCCGGCCGAGGTGCAGGTGTAGGCGCAGCCTCGCCCAGAACTCTCCCGCCACACCCAAGGGAGCTGGAAGCCCGGGAGGGTGCTGTCCCTCTCCCTTAGGAACAGAGGGCCCTGAAGTGCTCCCTCCCTAGCATACAGCCGCCCCCGGGGATCTGGACCGCACGGCGGTATCACAAATCTGGAGGAGGCATGGAGGCAAGCGCCCTGGCGGCGCCTTCACTGGTAGGTGGAGGTCCCCTCTCTCCTGTGCTGTCTTCAGCTCCGGGTATCCATCCCTCCACAGACAGGACTACACCTTTCAGCGCCCGGTCCCTCTGTGCCTCCAAGGCAGGAGGGCCAGCCAGCGGCCGGGAGGGAGGAGTGGCAGCAGAGCCGACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCA 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Task1_train_5486 | This mutation occurs in IHH (Indian hedgehog signaling molecule) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Brachydactyly type A1 | ACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAG 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ACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGTTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAG 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Task1_train_5487 | A mutation in IHH (Indian hedgehog signaling molecule), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Brachydactyly type A1A | TGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGG 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TGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTTGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGG 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Task1_train_5488 | Here is a mutation in IHH (Indian hedgehog signaling molecule) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Brachydactyly type A1 | CTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGGATTGAAGCCCATGA 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CTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCCCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGGATTGAAGCCCATGA 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Task1_train_5489 | Here is a genetic alteration in IHH (Indian hedgehog signaling molecule) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | TGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGGATTGAAGCCCATGAC 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TGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTTCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGGATTGAAGCCCATGAC 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Task1_train_5490 | Gene IHH (Indian hedgehog signaling molecule) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGGATTGAAGCCCATGACTCTGGCCCAGCCCCAGTTTTTGCCCATGCAGGTGCATTGTCCCTCTGTGCAGGACCAGTCCACTCAACACCACTGGGTTCGGGGCTGAAGTAGCTGTTCACAGATTTACTC 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TTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTTGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGGATTGAAGCCCATGACTCTGGCCCAGCCCCAGTTTTTGCCCATGCAGGTGCATTGTCCCTCTGTGCAGGACCAGTCCACTCAACACCACTGGGTTCGGGGCTGAAGTAGCTGTTCACAGATTTACTC 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Task1_train_5491 | Given this variant in gene IHH (Indian hedgehog signaling molecule) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Acrocapitofemoral dysplasia | CCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGGATTGAAGCCCATGACTCTGGCCCAGCCCCAGTTTTTGCCCATGCAGGTGCATTGTCCCTCTGTGCAGGACCAGTCCACTCAACACCACTGGGTTCGGGGCTGAAGTAGCTGTTCACAGATTTACTCACACTCTCTGGATCGGTTTTATAAACACAAATTCA 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CCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCAGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGGATTGAAGCCCATGACTCTGGCCCAGCCCCAGTTTTTGCCCATGCAGGTGCATTGTCCCTCTGTGCAGGACCAGTCCACTCAACACCACTGGGTTCGGGGCTGAAGTAGCTGTTCACAGATTTACTCACACTCTCTGGATCGGTTTTATAAACACAAATTCA 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Task1_train_5492 | Given a variant located on Chromosome 2 and affecting NHEJ1 (non-homologous end joining factor 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cernunnos-XLF deficiency | TTAAATTTATTAAATTTTATTTATGTATTTTTATTTGCAAGATGGAAAAGTTCACAAGAAATTAATTTAAAATAAACAAATGTGAGTATATGCTAAGTACTGTTGATAGACCTTAGAAGTTAATAAATGAATAAGTAATTCTCTCAGCACTCAGTTCTAGTTTTACTGGGCTCCAGATCAAAAATAAACATCAGGGCCGGGCGCAGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGCCGAGGTGAGCGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGATGAAACCCTGTCTCTACTAAAAAATACAACAAAAATTAGCCGGGCGTGGTGGTGTGCGCCTGTAGTCCCAGCTACGGGGGGCGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGTAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGAGAGCGAGACTCCGTCTCAAAAAAAAACAAAAAAAAATAAAATTAAAATAAAAATAAGCATCAGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTGTCTCTACTAAAAAATAGAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCAAACCTGGGCGACAGAGTGAAACTCCGTCTCAAAAAAAATAAATAAAATAAAATAAAATAAACATCAGCAAACAATTTCTCAAGAAGTCTTTCTATCCAGTCATCTATTGATGCCAAAGCATCACATCCCCTGTGGGAAACTAAAGAAGAGAGAAAAAAATGATGTCCTCTTGTCTTCAGATCCCTCTGCTAACAATCTATACTTTTAGGCTTCCCAAAGAAGACCCTGTCCCCTAAGTGCTACTGACTAAAACTGTGTCTGTTATTCCAGAAAACTAGTCTTTAACGTCCACTCTTAATTTCTAATAAAATCTCCTGGGAAATATAAAGCTATGAGTGAGTAGAGGATATTATCCCCCTAGTCTCTGAAAATGAGGCTTTGGACCAGACTAATCTGGGATTCAAATTCCAACTCATTTATTCATAAGCTGATGGCTTTGGACAAGTTATTTTCAATCTCAGTATTCTACTCTGAAAAACAAGGATAACAGTACTTATCCTGAAGGAGAGTTGTGAGGATTAAATGATGAGATAATGTTTAGAAAGGTATCTAACACTGGTACATATTCTATTCTGTTGCCAGAATAATCTTGATAAACCACGAATTGGATCATGTTAAATTCCTGTTTAAAGTTTTTCAGTGAATCCTGTTGCCTTTGAGATAAAATCCAAACTCATTAGAATCCTTCAAGATCCACTGCCTCCCTCATTTCTCATGCCTTCCTATCTACACAGCAGTCATGAAGTTCCCGAACTTGCTCCTCACTTACACATCTCTACATCTCTTGCCTACAATGATTTTTCTATTTATTTTCTCCTACTCATCTTCAAAACTTAGCTCAGTAACAGTCTCTTCAAAGAGGTTTTCTCCAATCCTCAACCATCCAGGGTCTACCTCAAAGAACCTATCATACTTTATCATAATTTCCTGTTTGTCTGTCTTCTCACTAGATTATGAACTCCAGGAAGAGGCTATATTGTTTTAGGTCTGGATAACCAACAATTAGCCCATTGTAGATGCTTTTAAAATGCTGAATAAATTAATTAATGAATAAAGACACTCAGTACTCTGCTCCTTTTGCAAGGAAAGGATTTAACAGTCAAGAATCCTTTTTGCCTTCTGTTTAGTCAAGGAAAGTTTTCTGATTGGAGAAGAATTTCAAACAAGGTTTGCAAAAAAAATAAAAGCACCTAAAGCTTCCTCTCAAAGCAACTGGCATCCCTCCCCCAACCCCACATTCGAATTACACTTACCAGGGAAGGACTAGCTAGCATGCAGTGGAAATTCCAATAGAAGGGGAGGCCAGAGAGCTCACTTCGCACCCGTAGAATCAGTGCATCTGCCACACAATCACAGGAGAAGGTAGCTTCGCTAGGGTGAGCAGCGTCCTTCAACAATGGGCGAAGGAGATTATCCAAATGACAGAGGAAAGCTGCAGGAGGAGCAGTGAGCCGCTTGTTCAGCTCCTAAAGAGAGAGCAGTGGTACAGAGTAAGGGTGCTAAAAGGAAACTAATTCCCTCATAAGTAACAGCAAAGGAAAGCCCTGGTTAACACGAAGGCAATGGACATGAGAGGAAGGGGAGAGAAGATAAAAACATCACAAGGGGAAAGAAGAAAACAAAAAGAAGAGAGTCACAAAGACCAATTGGCCTACTTCACAATTCTGCCTTGGGCAAGATTAAATCACAAAAGGCCTATCTAGATCAAATAATATATTCATTATCATGCATAGGGTAGGGAAACTAACTTTCTTTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACACAAAGATTCCAGGCAGAAGTACAGGTAGAAGTACAGGACATTAACTGGAATTGTCTCAACCCGATTCAACCTTCCTTGGGAAACTACAGGCCAGCAAGCTGGTTGATGTTCACATCCCCGACACAGCAGTACTTCTCCTCATACTTACCTTGGCTCGCTGGCTGACCACACTAGTGTCCACCTGTTCATGCCACACCTGTTGAAGATCTGAAACCAACAAGGCATAGCCCTGCTTGGTGATAAAAACCTTGGCCAAGAGGGAGTTCTCTGCAAGCTGTAGCCACGCCCATGGCTGCATCAACAGGCCTTGCTCCAGTTCTTCCATCTGCAAAAAAGTCCTCATTTAGTAAAGAGCCTCAGGGTCATGCTGGCCTAGGGAGGGCACCACCCAAACCAGTCTGTATCAACTAAAATCTCATGAAAATCCTCCCTGATAAAATAGAAGGCATGGATTTACGTTCTCCCAGTATACAACCAGCTGAGCACTGACTTTACTACCTCCTGGCCACTAAAAGTATATTTAAAATCTTGAGGGTTTTTTTTTTCCCATATTACATTCCTAGAGGACAGAAAATCTTTCTTCCATAGTGTTTAAACCTCAGCATATTGCTGTTAGTATTTCTGCTTTCTAATACTATAACATAACGTGGAAACCTAAACCCTTCTTGTTCCATCTTTATCACATTCCTAATAAATATGTCACTCCTATCCTTTCCCAGAACTAGAAGAGAAGGAATAGTTCTTGTCTTATAAAACATCATAAGTCATAGTGTCAGGGCCAGGAAATTCGAAGTATTTGATCATTATCTAAAAACAAAGTTTAGGAAGCTCTCAGGATTTTTTTAAAAATCCCTAAAACAGGTTCTTAATCTAGAGTCAATGCATGTGAATCCTCTAGAATTATATGAAAATGTTATGTGTACACGCATATATGCATGGGGAGGGGGAAGAGGTCTACAGCTATCATCAAACTCTCAGGGATCGATGACACAAAAAAGAGCTAAGAACCTGTGTCCAGGAGCAACAGAAAAGACCTAAATTTCATTTCAACAAAAACCAGAATGACTAGGAAATCATGAATACAAGGCAGAGCACATCACAGAGGTAAAGACTGAATTAACTTCCACTTAACTCATCCTCCACATTCCCACTCCAGTGCACTGCCACCAATGACAACATGCCCAGCCTGGAACCCCTGCAAAACAACTTTTCTATCTCAGCAGCTAAAGTAGTAGGCTTAACCTAGTAGACAATCAGAACTACGGCTGCTTGACAGAGAATGTGATTGTTTTTCCTGTGGGGGAGAAAAAAATATGTCAATTTCCTTCATTATTCCAGTCTACAAATATAAAATGAACAGAAGTACCAGGAAGGAAAAATTTAGAATGTAAATAATGAAATTCCTTATTAAGTCTGATTAACACAGTCATTTCCCCTAGCTTTTGAAGTGTGCCCTTGTGACTTGTGACATAACTTTATATATATATGCATATATATATGCATAT 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TTAAATTTATTAAATTTTATTTATGTATTTTTATTTGCAAGATGGAAAAGTTCACAAGAAATTAATTTAAAATAAACAAATGTGAGTATATGCTAAGTACTGTTGATAGACCTTAGAAGTTAATAAATGAATAAGTAATTCTCTCAGCACTCAGTTCTAGTTTTACTGGGCTCCAGATCAAAAATAAACATCAGGGCCGGGCGCAGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGCCGAGGTGAGCGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGATGAAACCCTGTCTCTACTAAAAAATACAACAAAAATTAGCCGGGCGTGGTGGTGTGCGCCTGTAGTCCCAGCTACGGGGGGCGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGTAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGAGAGCGAGACTCCGTCTCAAAAAAAAACAAAAAAAAATAAAATTAAAATAAAAATAAGCATCAGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTGTCTCTACTAAAAAATAGAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCAAACCTGGGCGACAGAGTGAAACTCCGTCTCAAAAAAAATAAATAAAATAAAATAAAATAAACATCAGCAAACAATTTCTCAAGAAGTCTTTCTATCCAGTCATCTATTGATGCCAAAGCATCACATCCCCTGTGGGAAACTAAAGAAGAGAGAAAAAAATGATGTCCTCTTGTCTTCAGATCCCTCTGCTAACAATCTATACTTTTAGGCTTCCCAAAGAAGACCCTGTCCCCTAAGTGCTACTGACTAAAACTGTGTCTGTTATTCCAGAAAACTAGTCTTTAACGTCCACTCTTAATTTCTAATAAAATCTCCTGGGAAATATAAAGCTATGAGTGAGTAGAGGATATTATCCCCCTAGTCTCTGAAAATGAGGCTTTGGACCAGACTAATCTGGGATTCAAATTCCAACTCATTTATTCATAAGCTGATGGCTTTGGACAAGTTATTTTCAATCTCAGTATTCTACTCTGAAAAACAAGGATAACAGTACTTATCCTGAAGGAGAGTTGTGAGGATTAAATGATGAGATAATGTTTAGAAAGGTATCTAACACTGGTACATATTCTATTCTGTTGCCAGAATAATCTTGATAAACCACGAATTGGATCATGTTAAATTCCTGTTTAAAGTTTTTCAGTGAATCCTGTTGCCTTTGAGATAAAATCCAAACTCATTAGAATCCTTCAAGATCCACTGCCTCCCTCATTTCTCATGCCTTCCTATCTACACAGCAGTCATGAAGTTCCCGAACTTGCTCCTCACTTACACATCTCTACATCTCTTGCCTACAATGATTTTTCTATTTATTTTCTCCTACTCATCTTCAAAACTTAGCTCAGTAACAGTCTCTTCAAAGAGGTTTTCTCCAATCCTCAACCATCCAGGGTCTACCTCAAAGAACCTATCATACTTTATCATAATTTCCTGTTTGTCTGTCTTCTCACTAGATTATGAACTCCAGGAAGAGGCTATATTGTTTTAGGTCTGGATAACCAACAATTAGCCCATTGTAGATGCTTTTAAAATGCTGAATAAATTAATTAATGAATAAAGACACTCAGTACTCTGCTCCTTTTGCAAGGAAAGGATTTAACAGTCAAGAATCCTTTTTGCCTTCTGTTTAGTCAAGGAAAGTTTTCTGATTGGAGAAGAATTTCAAACAAGGTTTGCAAAAAAAATAAAAGCACCTAAAGCTTCCTCTCAAAGCAACTGGCATCCCTCCCCCAACCCCACATTCGAATTACACTTACCAGGGAAGGACTAGCTAGCATGCGGTGGAAATTCCAATAGAAGGGGAGGCCAGAGAGCTCACTTCGCACCCGTAGAATCAGTGCATCTGCCACACAATCACAGGAGAAGGTAGCTTCGCTAGGGTGAGCAGCGTCCTTCAACAATGGGCGAAGGAGATTATCCAAATGACAGAGGAAAGCTGCAGGAGGAGCAGTGAGCCGCTTGTTCAGCTCCTAAAGAGAGAGCAGTGGTACAGAGTAAGGGTGCTAAAAGGAAACTAATTCCCTCATAAGTAACAGCAAAGGAAAGCCCTGGTTAACACGAAGGCAATGGACATGAGAGGAAGGGGAGAGAAGATAAAAACATCACAAGGGGAAAGAAGAAAACAAAAAGAAGAGAGTCACAAAGACCAATTGGCCTACTTCACAATTCTGCCTTGGGCAAGATTAAATCACAAAAGGCCTATCTAGATCAAATAATATATTCATTATCATGCATAGGGTAGGGAAACTAACTTTCTTTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACACAAAGATTCCAGGCAGAAGTACAGGTAGAAGTACAGGACATTAACTGGAATTGTCTCAACCCGATTCAACCTTCCTTGGGAAACTACAGGCCAGCAAGCTGGTTGATGTTCACATCCCCGACACAGCAGTACTTCTCCTCATACTTACCTTGGCTCGCTGGCTGACCACACTAGTGTCCACCTGTTCATGCCACACCTGTTGAAGATCTGAAACCAACAAGGCATAGCCCTGCTTGGTGATAAAAACCTTGGCCAAGAGGGAGTTCTCTGCAAGCTGTAGCCACGCCCATGGCTGCATCAACAGGCCTTGCTCCAGTTCTTCCATCTGCAAAAAAGTCCTCATTTAGTAAAGAGCCTCAGGGTCATGCTGGCCTAGGGAGGGCACCACCCAAACCAGTCTGTATCAACTAAAATCTCATGAAAATCCTCCCTGATAAAATAGAAGGCATGGATTTACGTTCTCCCAGTATACAACCAGCTGAGCACTGACTTTACTACCTCCTGGCCACTAAAAGTATATTTAAAATCTTGAGGGTTTTTTTTTTCCCATATTACATTCCTAGAGGACAGAAAATCTTTCTTCCATAGTGTTTAAACCTCAGCATATTGCTGTTAGTATTTCTGCTTTCTAATACTATAACATAACGTGGAAACCTAAACCCTTCTTGTTCCATCTTTATCACATTCCTAATAAATATGTCACTCCTATCCTTTCCCAGAACTAGAAGAGAAGGAATAGTTCTTGTCTTATAAAACATCATAAGTCATAGTGTCAGGGCCAGGAAATTCGAAGTATTTGATCATTATCTAAAAACAAAGTTTAGGAAGCTCTCAGGATTTTTTTAAAAATCCCTAAAACAGGTTCTTAATCTAGAGTCAATGCATGTGAATCCTCTAGAATTATATGAAAATGTTATGTGTACACGCATATATGCATGGGGAGGGGGAAGAGGTCTACAGCTATCATCAAACTCTCAGGGATCGATGACACAAAAAAGAGCTAAGAACCTGTGTCCAGGAGCAACAGAAAAGACCTAAATTTCATTTCAACAAAAACCAGAATGACTAGGAAATCATGAATACAAGGCAGAGCACATCACAGAGGTAAAGACTGAATTAACTTCCACTTAACTCATCCTCCACATTCCCACTCCAGTGCACTGCCACCAATGACAACATGCCCAGCCTGGAACCCCTGCAAAACAACTTTTCTATCTCAGCAGCTAAAGTAGTAGGCTTAACCTAGTAGACAATCAGAACTACGGCTGCTTGACAGAGAATGTGATTGTTTTTCCTGTGGGGGAGAAAAAAATATGTCAATTTCCTTCATTATTCCAGTCTACAAATATAAAATGAACAGAAGTACCAGGAAGGAAAAATTTAGAATGTAAATAATGAAATTCCTTATTAAGTCTGATTAACACAGTCATTTCCCCTAGCTTTTGAAGTGTGCCCTTGTGACTTGTGACATAACTTTATATATATATGCATATATATATGCATAT 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Task1_train_5493 | Gene ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Microphthalmia, isolated, with coloboma 7 | TCCACTGGACCATGATTGCTCTGGGGAGGGGCACCCAACCAGCCGGGCAGGGTAATGGCAGCCAAGTCCTCCACTTGCTTTTGGGAAGCATTCTTTTGGAACTGACTCAAGCTCTGTTGTTATAAATTGGGGAGCTTCAACCCTACCCTGTCGGCTAGGGGAGTCTTTTAGCTTCCTTTTCAAGTGCATGTTTTTCCAGAACTCCCCTCCTGACTTCCTGGGTAAGGCTAGTTCTTGGAGACATGCCAAAAATCTCTCTTCCCTACAGACTTGCTGCCATCTCCAGAGCACAAGCTGTGGCTTCTACAAGCACTGTCCCCAGCCCAAGTCAAACCATGCCTTCCTGTACCTCTCCCAGCAGGTAGGCCTGCCCGTTTCCCTGCTCCCCCTTTTTCCCCTTCACACCTCTGACCTCCACCTCTTCAATGTCTGTCGTAGAGCCACAACCCGATCTCCGTCCTGGACAGCCCCTCCAGTGATTGCTTTGCAGAATGGCCTGGTGAGTTGGGCAGAGGTTGGATGGACAGAAACAAACACACAGAGAGTGAAGTCCAAGGACGCTGGTCTTCTTTCTCCCTTTGTAGAGTGAGGATGAAGCTCTGCAGCGGGCCCTGGAAATGTCCCTGGCAGAAACCAAACCCCAGGTTCCAAGGTACCTTACCCTCTTGTGAAAGAGAGCGCAAGCTGTGGGCAAGGGCTTGGTCTGGAGGCAGGTAGGTGGGACCACTCTGACACAATGCAAGATAATCGCTGGCAACTTGGTCTCAAAATTAAGATGAACTATATGATCTTTGACAAGTTATTTAACCCATGGAGCCTTCATTTCCTCTATAAAACGGGGACAATACTAATACCCACCTTGTAGTGTTGCTATGAAGATTGAGATAATCCTCAGCAGTGCTCAGCACCATGAGGCCCAACACACACAGATCAGATGTTCAAATTTCAGATCTTACCATCATCCAACTTAAACTGTTTCTCCCTCCCAGTTGTCAGGAGGAAGAAGACCTAGCTTTAGCACAAGCACTGTCAGCCAGTGAGGCAGAATACCAGCGGCAGCAGGTATGAGGCTGGGCTGAAGATATATGCTGCAGTGGAAGGGAGGAAGAAGTCAGGGATGGGGGTTCTTCCTAGTGGTGCAGAGTTTTGGAATGGTGGTTATCGTCTGGTTTTCAGTATGACTCCAGCCCATGCTGAGCTCTGAAATGAGGGCTGTCCCTCATTTCCTTGACGTTGCACTGTGTCTTCCCCTCCTTCCCCTCTCTTTGCTCTAGGCCCAGAGCCGCAGCTCGAAGCCGTCCAACTGCAGCCTGTGCTAGGGCCCTGGGCTTGGGGAGGGAGGTTCACCTGAGGAGGACTGTGGCCCTCACACCTCTAGGGTACACAGGGAGAGGAGGCCCGGAGCACCCTGGAGGGCAGAGACAAGCGGGAGTGATGTGGAGGTCGCCCTGGGAGCCTCTGGAAGGCCTTGCTAGTGCTCCAGCTGCATGGAAGAGAGCGGCTAGCAACTGTTCCCTGGTTGGGCCCTCAGTGGATGCTGGCCAGGCCCTACTCTTAGCCCCTTCATCATGTCATCTCCCTTATGCTGGAGCTGCCCCGATGTGGAGTGGGCAGGAAGGGGCCTGGAAAAAATAAAGGATCTTGGCAGTTGATAAAACGTACAAGTGGTGTGTTTCTCTCTCCTCTCTAACCTCAAACAGGAAAGCCGTGTCAAGAATGCTCATCTGACTTATGGGTAGAGGCCCGCTGCAGTACCCCATCCCACAAAGCCACAGTGATCCTCGCACAGTCCACATTTTTATTTCCCCAAAAGATGTTTTTCGGAAAGGTCCCTTTCCCTTACCATAGCTAGCACCATACCCCAAGACCAGGATGAAATAAGCCAGGGAAAGGAGACACATCTTATTCCCTTCTGGGTTAGTCTTTGAGAGGGAAGTGGCCAAACTTTTGTCACCGTTCCATGGTCTGAGGCTTAGTGTCTTCAGAGGTTTCTTCCTGTCCCTGCTGCAGCTGCCACATGTCAGCATACACCCCACCTCGGGACAACAGAGCCTCGTGTCTGGGGTGAGGAGAAAAGTGTGAGTCCTAACCATTAGTTTTACCCCGAGGGTCCTTGCCACCAGCCCACAGAGAGGACGGGATGGGAAGGGAGGTCCCCTCCAGAAGCCCCTGGGACTTCATGCCCCCTTTCCTGGAGCCCCCAATTCAGAAGACCTGTCCTTTTGATCTATGTGTCTCTTACCGTCCCCTCTCCACGATGCAGCCATCCTTGATGACGAGGATCTGGTCAGCATTGACCACAGTTGAGAGCCTGAGAAGTCAAAGATCAGTCGCCTACTACCCCACCCAAAGCGGGCCACATCACCAGCCGCCCCAGGCCTGTAGTCCTGTACCTGTGTGCCACTACGATGGTGGTGCGGTTGGCACAGACTTTGGCCAGAGAAGCCTGGATGGCCCTCTCATTAGATGTATCCAGCGCTGACGTTGCCTATAGAGAGGGTCCAGGTAAAACTGCTCCTGCCACTCAAAACCCTCAATGGAAGGAGGCAGGCTGCTGGCTGAGGCCTCAAGAATACACAAGAGCCTTGTTTGGGCTTGAGAACTGGAAAGTGTGTTTTGTGAGATTTGAATTCATGGTATCTGTTCTAGGTGGGGACAGTGCCCAGGAGGAACGGCTTGAGCATACACAAGGCAGGAAGGAGGGGAGGAGACCCAGGGCGCACCTCATCCAGCAGAATGATGCCCGGAGCCTTGAGGATGGTGCGGGCAATGGCGACGCGCTGCTTCTCCCCGCCGCTCAGCTTCAGTCCCCGCTCGCCCACCTGTGTCCTGTACCCTGTGGATATTACCCACCACACGTTTCTTACGAAACGGAGGGAACAGGGGTCAGGGATTAGCAGGACAACACCAGGAGGGGAGGGGACTCTCTGCAAAGGAATCTCTCACCTTCAGGGAAAGCCATAATGGCATCATGGATGCCTGCAGCCTGAGCAGCAGCCTCCACCTCATCATTCCCAGCTGTGACACGGCCGTAACGGATATTGTCGGCGATGGTGTCATTAAAGAGGACAGTGTCTTGGGGCACAACTCCAATGTGAGACCGGAGAGAGGCCTGGGTCACCTAGGGCCAAAAGACCACACACTCTGCCTTATGAGATACCCCCAAGGCCTGGGAGGCAGGGTGGGCTGGCCGGAAGCACGTGGGATAAGAGGCTGTGGTAATAATCCCACCATCACTGCCCCATATCCTAGCCGTGTGGGCAAATCACTCCTCTCTGTTTCCCCATCTTCTCTTCCTGCTTCACCAGATTGCTGCAGATGTTTTGTTTTGTTTTTGGATAGAGTCCACTCTGTCACCCAGGCTGGACTGCAGTGGCAAAATCTCGGCTTACTGCAGCCTTGACCTCCTGGCTCATGCAATCCTCCTACCTCAGCTTCCTGAGTAGCTGAGACCACAGGTGCTTGAGACTACGTCAAGCTAATTTTTAATTTTTTGTTGAGATGGGGTTGCCAGGTATGTTGCCCAGGCTGGTCTCAAAATCCTGGACTCAAATGATCCTGCTGCCTTGACCTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCTACAGAATATCGTTGTACCTTTTTTTTTTTTTTTTTTTTGTTTTGCTTTTTGTTTTGAGACAGGGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCCTGGTGGGACTACATGTGTGTGCCACCATGGCCAGCTAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCACTCTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCAAATTTTTTGTATTTTTCGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGCCCAGCAATTTTTGTATTTTTTGTAGAG 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TCCACTGGACCATGATTGCTCTGGGGAGGGGCACCCAACCAGCCGGGCAGGGTAATGGCAGCCAAGTCCTCCACTTGCTTTTGGGAAGCATTCTTTTGGAACTGACTCAAGCTCTGTTGTTATAAATTGGGGAGCTTCAACCCTACCCTGTCGGCTAGGGGAGTCTTTTAGCTTCCTTTTCAAGTGCATGTTTTTCCAGAACTCCCCTCCTGACTTCCTGGGTAAGGCTAGTTCTTGGAGACATGCCAAAAATCTCTCTTCCCTACAGACTTGCTGCCATCTCCAGAGCACAAGCTGTGGCTTCTACAAGCACTGTCCCCAGCCCAAGTCAAACCATGCCTTCCTGTACCTCTCCCAGCAGGTAGGCCTGCCCGTTTCCCTGCTCCCCCTTTTTCCCCTTCACACCTCTGACCTCCACCTCTTCAATGTCTGTCGTAGAGCCACAACCCGATCTCCGTCCTGGACAGCCCCTCCAGTGATTGCTTTGCAGAATGGCCTGGTGAGTTGGGCAGAGGTTGGATGGACAGAAACAAACACACAGAGAGTGAAGTCCAAGGACGCTGGTCTTCTTTCTCCCTTTGTAGAGTGAGGATGAAGCTCTGCAGCGGGCCCTGGAAATGTCCCTGGCAGAAACCAAACCCCAGGTTCCAAGGTACCTTACCCTCTTGTGAAAGAGAGCGCAAGCTGTGGGCAAGGGCTTGGTCTGGAGGCAGGTAGGTGGGACCACTCTGACACAATGCAAGATAATCGCTGGCAACTTGGTCTCAAAATTAAGATGAACTATATGATCTTTGACAAGTTATTTAACCCATGGAGCCTTCATTTCCTCTATAAAACGGGGACAATACTAATACCCACCTTGTAGTGTTGCTATGAAGATTGAGATAATCCTCAGCAGTGCTCAGCACCATGAGGCCCAACACACACAGATCAGATGTTCAAATTTCAGATCTTACCATCATCCAACTTAAACTGTTTCTCCCTCCCAGTTGTCAGGAGGAAGAAGACCTAGCTTTAGCACAAGCACTGTCAGCCAGTGAGGCAGAATACCAGCGGCAGCAGGTATGAGGCTGGGCTGAAGATATATGCTGCAGTGGAAGGGAGGAAGAAGTCAGGGATGGGGGTTCTTCCTAGTGGTGCAGAGTTTTGGAATGGTGGTTATCGTCTGGTTTTCAGTATGACTCCAGCCCATGCTGAGCTCTGAAATGAGGGCTGTCCCTCATTTCCTTGACGTTGCACTGTGTCTTCCCCTCCTTCCCCTCTCTTTGCTCTAGGCCCAGAGCCGCAGCTCGAAGCCGTCCAACTGCAGCCTGTGCTAGGGCCCTGGGCTTGGGGAGGGAGGTTCACCTGAGGAGGACTGTGGCCCTCACACCTCTAGGGTACACAGGGAGAGGAGGCCCGGAGCACCCTGGAGGGCAGAGACAAGCGGGAGTGATGTGGAGGTCGCCCTGGGAGCCTCTGGAAGGCCTTGCTAGTGCTCCAGCTGCATGGAAGAGAGCGGCTAGCAACTGTTCCCTGGTTGGGCCCTCAGTGGATGCTGGCCAGGCCCTACTCTTAGCCCCTTCATCATGTCATCTCCCTTATGCTGGAGCTGCCCCGATGTGGAGTGGGCAGGAAGGGGCCTGGAAAAAATAAAGGATCTTGGCAGTTGATAAAACGTACAAGTGGTGTGTTTCTCTCTCCTCTCTAACCTCAAACAGGAAAGCCGTGTCAAGAATGCTCATCTGACTTATGGGTAGAGGCCCGCTGCAGTACCCCATCCCACAAAGCCACAGTGATCCTCGCACAGTCCACATTTTTATTTCCCCAAAAGATGTTTTTCGGAAAGGTCCCTTTCCCTTACCATAGCTAGCACCATACCCCAAGACCAGGATGAAATAAGCCAGGGAAAGGAGACACATCTTATTCCCTTCTGGGTTAGTCTTTGAGAGGGAAGTGGCCAAACTTTTGTCACCGTTCCATGGTCTGAGGCTTAGTGTCTTCAGAGGTTTCTTCCTGTCCCTGCTGCAGCTGCCACATGTCAGCATACACCCCACCTCGGGACAACACAGCCTCGTGTCTGGGGTGAGGAGAAAAGTGTGAGTCCTAACCATTAGTTTTACCCCGAGGGTCCTTGCCACCAGCCCACAGAGAGGACGGGATGGGAAGGGAGGTCCCCTCCAGAAGCCCCTGGGACTTCATGCCCCCTTTCCTGGAGCCCCCAATTCAGAAGACCTGTCCTTTTGATCTATGTGTCTCTTACCGTCCCCTCTCCACGATGCAGCCATCCTTGATGACGAGGATCTGGTCAGCATTGACCACAGTTGAGAGCCTGAGAAGTCAAAGATCAGTCGCCTACTACCCCACCCAAAGCGGGCCACATCACCAGCCGCCCCAGGCCTGTAGTCCTGTACCTGTGTGCCACTACGATGGTGGTGCGGTTGGCACAGACTTTGGCCAGAGAAGCCTGGATGGCCCTCTCATTAGATGTATCCAGCGCTGACGTTGCCTATAGAGAGGGTCCAGGTAAAACTGCTCCTGCCACTCAAAACCCTCAATGGAAGGAGGCAGGCTGCTGGCTGAGGCCTCAAGAATACACAAGAGCCTTGTTTGGGCTTGAGAACTGGAAAGTGTGTTTTGTGAGATTTGAATTCATGGTATCTGTTCTAGGTGGGGACAGTGCCCAGGAGGAACGGCTTGAGCATACACAAGGCAGGAAGGAGGGGAGGAGACCCAGGGCGCACCTCATCCAGCAGAATGATGCCCGGAGCCTTGAGGATGGTGCGGGCAATGGCGACGCGCTGCTTCTCCCCGCCGCTCAGCTTCAGTCCCCGCTCGCCCACCTGTGTCCTGTACCCTGTGGATATTACCCACCACACGTTTCTTACGAAACGGAGGGAACAGGGGTCAGGGATTAGCAGGACAACACCAGGAGGGGAGGGGACTCTCTGCAAAGGAATCTCTCACCTTCAGGGAAAGCCATAATGGCATCATGGATGCCTGCAGCCTGAGCAGCAGCCTCCACCTCATCATTCCCAGCTGTGACACGGCCGTAACGGATATTGTCGGCGATGGTGTCATTAAAGAGGACAGTGTCTTGGGGCACAACTCCAATGTGAGACCGGAGAGAGGCCTGGGTCACCTAGGGCCAAAAGACCACACACTCTGCCTTATGAGATACCCCCAAGGCCTGGGAGGCAGGGTGGGCTGGCCGGAAGCACGTGGGATAAGAGGCTGTGGTAATAATCCCACCATCACTGCCCCATATCCTAGCCGTGTGGGCAAATCACTCCTCTCTGTTTCCCCATCTTCTCTTCCTGCTTCACCAGATTGCTGCAGATGTTTTGTTTTGTTTTTGGATAGAGTCCACTCTGTCACCCAGGCTGGACTGCAGTGGCAAAATCTCGGCTTACTGCAGCCTTGACCTCCTGGCTCATGCAATCCTCCTACCTCAGCTTCCTGAGTAGCTGAGACCACAGGTGCTTGAGACTACGTCAAGCTAATTTTTAATTTTTTGTTGAGATGGGGTTGCCAGGTATGTTGCCCAGGCTGGTCTCAAAATCCTGGACTCAAATGATCCTGCTGCCTTGACCTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCTACAGAATATCGTTGTACCTTTTTTTTTTTTTTTTTTTTGTTTTGCTTTTTGTTTTGAGACAGGGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCCTGGTGGGACTACATGTGTGTGCCACCATGGCCAGCTAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCACTCTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCAAATTTTTTGTATTTTTCGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGCCCAGCAATTTTTGTATTTTTTGTAGAG 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Task1_train_5494 | This variant lies on Chromosome 2 and affects the gene ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Dyschromatosis universalis hereditaria 3 | TCTGTTTCCCCATCTTCTCTTCCTGCTTCACCAGATTGCTGCAGATGTTTTGTTTTGTTTTTGGATAGAGTCCACTCTGTCACCCAGGCTGGACTGCAGTGGCAAAATCTCGGCTTACTGCAGCCTTGACCTCCTGGCTCATGCAATCCTCCTACCTCAGCTTCCTGAGTAGCTGAGACCACAGGTGCTTGAGACTACGTCAAGCTAATTTTTAATTTTTTGTTGAGATGGGGTTGCCAGGTATGTTGCCCAGGCTGGTCTCAAAATCCTGGACTCAAATGATCCTGCTGCCTTGACCTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCTACAGAATATCGTTGTACCTTTTTTTTTTTTTTTTTTTTGTTTTGCTTTTTGTTTTGAGACAGGGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCCTGGTGGGACTACATGTGTGTGCCACCATGGCCAGCTAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCACTCTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCAAATTTTTTGTATTTTTCGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGCCCAGCAATTTTTGTATTTTTTGTAGAGAGGGTGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTTTGTAGCTTTTATGGCACCATACAAATCCTTAACATGACTACTTTACTTGTGTGACTGTAGGTTATATCATGCTAGAATGGCCCTAGTTTTTTTGCAAGGGTGACATCTCCTCTCTCTGGACAGCCAGCCCTTATCATTCCTCCACACGTAGACCCCTAAACCACCGTCTTCTCCAGAGCAACCCTACCTGTGAAATGTCCTGCCCATCTATTCGGATGCAGCCAGAGCTGATGTCGTAGAAGCGAAACAGCAGGCGCAAAATTGTGCTCTTCCCTGCCCCAGATGGGCCCACCTGTTGCATTGGAAATGGGAAAAATCTCAGGCCCACTGGCTTTTTTTTTGAGACCGAATCTCACTCCGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTAGAACCTCTGCCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCTAGTAGTGGGATTATAGGCACCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTAACCTTAGGTGATCTGGCCACCTAAGCCTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCGCAGCCGGCCGAGGCCCACTGGCTTTTGAGGTTCCCTCTCCAAGAGGTCACCAGTGTCCATGGAGGCTGCACCATTCAATCCGGTTGCCTATCGTGACTGGGCTCTCTGACTCCACAGCCTGGGTCACAAGCTACCATGGGCACTGAATGAGGGAAGCTTGAGGCATCTGGGCCAAGTGGCTGGGTCTCCTCTCACCAGGGCAAGTGTCTGTCCAGGCATCACAGTGAAAGACACGTCCTGCAGAGTCTCCCGCCTGCAAGGAAAGGTGGGGTTGCTCAGCAGGCACCTTCCATCACCAGAGCTGCTAGTAGGCCCTGCCCCTCCCCTGCCCAGGCTCTTTTCCAAAAGCAGGGATTCAGAGCACTGAGAAGCAGGAAGGCAGTGTGCAAATGAACGGAAAAGCAAAGGAAGCAAAAGGAAGGCCTCACCCATCGGCATAGCTGAAGTGCACGTTCTCAAACTCAATACGGCCCTTCTGAAAGCGAAGGGGCCCTGCTCCAGGAAGGTCCTTCACCTGGAAGGGCACCACCCATGTGTGCTGAGGTTCTCAGCTTTGTGTTTTCCAAGCACGAGAAACACCACACAGCTCCTCCCTCCCCAAACCCTACTCCTCTCCCTTCGCTCACTTCTGTCTCCTCTTTCAGCAAGTCAAACATGTTCTCCATGTCAATGAAGTTGGTCTGGATCATCCTGCAAAAAGGTGCTGGTTAGGACTTCTCTGAGTAGCCAGGAAATAATAATGTGCCCTGGACAGGTGAGGGCCAGGGCTCAGATTACCTGTAGTAGGTGCCAAACCAATTGAGGGGCATGTACAGCTGGATAATGTAGGTGCCAAAGAGCACATAGTCCCCAACCTGTGGCAATCAAGGAAGCAGAGCATGTCACGGGGGGCCTGCAGGCCGCTCTTCTTGTGTCACCCTGCCCACTTCCTACCGAAGAGCCTGGTGACCAGACACAGGCCTCAGGCCCCCTTTTCCTTGTGCCCCACTCTCTCATCCAAGATCCTGCCTCACCTGTAGCTTCTGCTCAGTGACAAAGTATGCGCAAAGCAGGGAGCCGGCGAGGAGCCCGAGCCCAATCACCAGGTTCTGGGTCTGATTTAGTAAAACCAGTGAAGCGCTCGACTTCCACTCCAAACCCTGAGGGCAATAACACAGGAAGAGGAATGTCCTATACACAATGGCCATCAGTGAGTCCAAACCTGGGCCCAGGCCCCTTCTACCCCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCACGCCTCACACCACTGCCACCGGGCCCTCTGTTACCGTCTCGAAGTTTAGCAGAGAGTCCACTGCTCGTGCCCGGGTAGCGTTCTCCTGTGTGTTCATAGCACGACGAAACTTGGTTCTCCACTCAGTGACCACAATGGTCAGGGCTGGAGAGTGACAGGATGGGGAGCAGAATAGGACATCATCCCCAAAAGCAGAGACCAAATGTCAATGTCCACTACCTGCCATGTACACACTAAGCCTATGCTCAAGCCCGGACACCCAGATTCCACAGGGAGGCACCTCTGCAGCCTGCACAAAGTCTCATGTGTAGAAAACGCTTTTGGTAAATGAAAGCAAGCTGCATCTTGTTACACAAACGAGGCTTCCTTGACCTGTGTCCACGGCTCAGACTTAACGTGACAAGAATGTCCTTCCCCAGCCCCTCAGCTAGGTTAAGGTTTGATTTGACAGAAGAGACCCGCCCATCACATGACGAGCACTAGGAGCCCATTCAAGTCCACCAATCCACAGCCTCCCATAGGTGGGTCACTTGAGTGGGGGCACAGCTCATGGCCAAGGGAGTCCCTGGATAGTTCAGGGAGACGGTGTCTCCCAGCAGCACTCACTGAGGTAAAGACTCATGCACAGGAACACAATGAGGCCAAACCAGGCGTTGAAGAACATGCTGAAGTAGATGATGCCAATGATGATGTCGGCCAGCGTGGGGATGACATTGAACACCAGGTAGCTAGGAGGGCAGGTCAAGTGAATAAGAAAGGTCTGGGGGCTTAGACCCAGCAACCCTGCCTCTAGGCATTTCAGGGTAGTGTTTTATTTTCAAGCAACAGACTGGAACCAGTCTTAATTAATTCTACCCTCAAGAGGTGGGTGGCTAAATCAACCATGCTCAAACTACAGAATTCTCTGTATCAATTACAATGAATGAGGGAGACCTTCAGGCATGGAAGAAAAATATATCTCCATAATGTTCTGTTAATAAGCAACTCTGAGAATGATGGCTAT 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TCTGTTTCCCCATCTTCTCTTCCTGCTTCACCAGATTGCTGCAGATGTTTTGTTTTGTTTTTGGATAGAGTCCACTCTGTCACCCAGGCTGGACTGCAGTGGCAAAATCTCGGCTTACTGCAGCCTTGACCTCCTGGCTCATGCAATCCTCCTACCTCAGCTTCCTGAGTAGCTGAGACCACAGGTGCTTGAGACTACGTCAAGCTAATTTTTAATTTTTTGTTGAGATGGGGTTGCCAGGTATGTTGCCCAGGCTGGTCTCAAAATCCTGGACTCAAATGATCCTGCTGCCTTGACCTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCTACAGAATATCGTTGTACCTTTTTTTTTTTTTTTTTTTTGTTTTGCTTTTTGTTTTGAGACAGGGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCCTGGTGGGACTACATGTGTGTGCCACCATGGCCAGCTAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCACTCTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCAAATTTTTTGTATTTTTCGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGCCCAGCAATTTTTGTATTTTTTGTAGAGAGGGTGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTTTGTAGCTTTTATGGCACCATACAAATCCTTAACATGACTACTTTACTTGTGTGACTGTAGGTTATATCATGCTAGAATGGCCCTAGTTTTTTTGCAAGGGTGACATCTCCTCTCTCTGGACAGCCAGCCCTTATCATTCCTCCACACGTAGACCCCTAAACCACCGTCTTCTCCAGAGCAACCCTACCTGTGAAATGTCCTGCCCATCTATTCGGATGCAGCCAGAGCTGATGTCGTAGAAGCGAAACAGCAGGCGCAAAATTGTGCTCTTCCCTGCCCCAGATGGGCCCACCTGTTGCATTGGAAATGGGAAAAATCTCAGGCCCACTGGCTTTTTTTTTGAGACCGAATCTCACTCCGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTAGAACCTCTGCCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCTAGTAGTGGGATTATAGGCACCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTAACCTTAGGTGATCTGGCCACCTAAGCCTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCGCAGCCGGCCGAGGCCCACTGGCTTTTGAGGTTCCCTCTCCAAGAGGTCACCAGTGTCCATGGAGGCTGCACCATTCAATCCGGTTGCCTATCGTGACTGGGCTCTCTGACTCCACAGCCTGGGTCACAAGCTACCATGGGCACTGAATGAGGGAAGCTTGAGGCATCTGGGCCAAGTGGCTGGGTCTCCTCTCACCAGGGCAAGTGTCTGTCCAGGCATCACAGTGAAAGACACGTCCTGCAGAGTCTCCCGCCTGCAAGGAAAGGTGGGGTTGCTCAGCAGGCACCTTCCATCACCAGAGCTGCTAGTAGGCCCTGCCCCTCCCCTGCCCAGGCTCTTTTCCAAAAGCAGGGATTCAGAGCACTGAGAAGCAGGAAGGCAGTGTGCAAATGAACGGAAAAGCAAAGGAAGCAAAAGGAAGGCCTCACCCATCGGCATAGCTGAAGTGCACGTTCTCAAACTCAATACGGCCCTTCTGAAAGCGAAGGGGCCCTGCTTCAGGAAGGTCCTTCACCTGGAAGGGCACCACCCATGTGTGCTGAGGTTCTCAGCTTTGTGTTTTCCAAGCACGAGAAACACCACACAGCTCCTCCCTCCCCAAACCCTACTCCTCTCCCTTCGCTCACTTCTGTCTCCTCTTTCAGCAAGTCAAACATGTTCTCCATGTCAATGAAGTTGGTCTGGATCATCCTGCAAAAAGGTGCTGGTTAGGACTTCTCTGAGTAGCCAGGAAATAATAATGTGCCCTGGACAGGTGAGGGCCAGGGCTCAGATTACCTGTAGTAGGTGCCAAACCAATTGAGGGGCATGTACAGCTGGATAATGTAGGTGCCAAAGAGCACATAGTCCCCAACCTGTGGCAATCAAGGAAGCAGAGCATGTCACGGGGGGCCTGCAGGCCGCTCTTCTTGTGTCACCCTGCCCACTTCCTACCGAAGAGCCTGGTGACCAGACACAGGCCTCAGGCCCCCTTTTCCTTGTGCCCCACTCTCTCATCCAAGATCCTGCCTCACCTGTAGCTTCTGCTCAGTGACAAAGTATGCGCAAAGCAGGGAGCCGGCGAGGAGCCCGAGCCCAATCACCAGGTTCTGGGTCTGATTTAGTAAAACCAGTGAAGCGCTCGACTTCCACTCCAAACCCTGAGGGCAATAACACAGGAAGAGGAATGTCCTATACACAATGGCCATCAGTGAGTCCAAACCTGGGCCCAGGCCCCTTCTACCCCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCACGCCTCACACCACTGCCACCGGGCCCTCTGTTACCGTCTCGAAGTTTAGCAGAGAGTCCACTGCTCGTGCCCGGGTAGCGTTCTCCTGTGTGTTCATAGCACGACGAAACTTGGTTCTCCACTCAGTGACCACAATGGTCAGGGCTGGAGAGTGACAGGATGGGGAGCAGAATAGGACATCATCCCCAAAAGCAGAGACCAAATGTCAATGTCCACTACCTGCCATGTACACACTAAGCCTATGCTCAAGCCCGGACACCCAGATTCCACAGGGAGGCACCTCTGCAGCCTGCACAAAGTCTCATGTGTAGAAAACGCTTTTGGTAAATGAAAGCAAGCTGCATCTTGTTACACAAACGAGGCTTCCTTGACCTGTGTCCACGGCTCAGACTTAACGTGACAAGAATGTCCTTCCCCAGCCCCTCAGCTAGGTTAAGGTTTGATTTGACAGAAGAGACCCGCCCATCACATGACGAGCACTAGGAGCCCATTCAAGTCCACCAATCCACAGCCTCCCATAGGTGGGTCACTTGAGTGGGGGCACAGCTCATGGCCAAGGGAGTCCCTGGATAGTTCAGGGAGACGGTGTCTCCCAGCAGCACTCACTGAGGTAAAGACTCATGCACAGGAACACAATGAGGCCAAACCAGGCGTTGAAGAACATGCTGAAGTAGATGATGCCAATGATGATGTCGGCCAGCGTGGGGATGACATTGAACACCAGGTAGCTAGGAGGGCAGGTCAAGTGAATAAGAAAGGTCTGGGGGCTTAGACCCAGCAACCCTGCCTCTAGGCATTTCAGGGTAGTGTTTTATTTTCAAGCAACAGACTGGAACCAGTCTTAATTAATTCTACCCTCAAGAGGTGGGTGGCTAAATCAACCATGCTCAAACTACAGAATTCTCTGTATCAATTACAATGAATGAGGGAGACCTTCAGGCATGGAAGAAAAATATATCTCCATAATGTTCTGTTAATAAGCAACTCTGAGAATGATGGCTAT 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Task1_train_5495 | Here’s a variant in ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Dyschromatosis universalis hereditaria 3 | TGCTTGAGACTACGTCAAGCTAATTTTTAATTTTTTGTTGAGATGGGGTTGCCAGGTATGTTGCCCAGGCTGGTCTCAAAATCCTGGACTCAAATGATCCTGCTGCCTTGACCTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCTACAGAATATCGTTGTACCTTTTTTTTTTTTTTTTTTTTGTTTTGCTTTTTGTTTTGAGACAGGGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCCTGGTGGGACTACATGTGTGTGCCACCATGGCCAGCTAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCACTCTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCAAATTTTTTGTATTTTTCGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGCCCAGCAATTTTTGTATTTTTTGTAGAGAGGGTGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTTTGTAGCTTTTATGGCACCATACAAATCCTTAACATGACTACTTTACTTGTGTGACTGTAGGTTATATCATGCTAGAATGGCCCTAGTTTTTTTGCAAGGGTGACATCTCCTCTCTCTGGACAGCCAGCCCTTATCATTCCTCCACACGTAGACCCCTAAACCACCGTCTTCTCCAGAGCAACCCTACCTGTGAAATGTCCTGCCCATCTATTCGGATGCAGCCAGAGCTGATGTCGTAGAAGCGAAACAGCAGGCGCAAAATTGTGCTCTTCCCTGCCCCAGATGGGCCCACCTGTTGCATTGGAAATGGGAAAAATCTCAGGCCCACTGGCTTTTTTTTTGAGACCGAATCTCACTCCGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTAGAACCTCTGCCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCTAGTAGTGGGATTATAGGCACCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTAACCTTAGGTGATCTGGCCACCTAAGCCTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCGCAGCCGGCCGAGGCCCACTGGCTTTTGAGGTTCCCTCTCCAAGAGGTCACCAGTGTCCATGGAGGCTGCACCATTCAATCCGGTTGCCTATCGTGACTGGGCTCTCTGACTCCACAGCCTGGGTCACAAGCTACCATGGGCACTGAATGAGGGAAGCTTGAGGCATCTGGGCCAAGTGGCTGGGTCTCCTCTCACCAGGGCAAGTGTCTGTCCAGGCATCACAGTGAAAGACACGTCCTGCAGAGTCTCCCGCCTGCAAGGAAAGGTGGGGTTGCTCAGCAGGCACCTTCCATCACCAGAGCTGCTAGTAGGCCCTGCCCCTCCCCTGCCCAGGCTCTTTTCCAAAAGCAGGGATTCAGAGCACTGAGAAGCAGGAAGGCAGTGTGCAAATGAACGGAAAAGCAAAGGAAGCAAAAGGAAGGCCTCACCCATCGGCATAGCTGAAGTGCACGTTCTCAAACTCAATACGGCCCTTCTGAAAGCGAAGGGGCCCTGCTCCAGGAAGGTCCTTCACCTGGAAGGGCACCACCCATGTGTGCTGAGGTTCTCAGCTTTGTGTTTTCCAAGCACGAGAAACACCACACAGCTCCTCCCTCCCCAAACCCTACTCCTCTCCCTTCGCTCACTTCTGTCTCCTCTTTCAGCAAGTCAAACATGTTCTCCATGTCAATGAAGTTGGTCTGGATCATCCTGCAAAAAGGTGCTGGTTAGGACTTCTCTGAGTAGCCAGGAAATAATAATGTGCCCTGGACAGGTGAGGGCCAGGGCTCAGATTACCTGTAGTAGGTGCCAAACCAATTGAGGGGCATGTACAGCTGGATAATGTAGGTGCCAAAGAGCACATAGTCCCCAACCTGTGGCAATCAAGGAAGCAGAGCATGTCACGGGGGGCCTGCAGGCCGCTCTTCTTGTGTCACCCTGCCCACTTCCTACCGAAGAGCCTGGTGACCAGACACAGGCCTCAGGCCCCCTTTTCCTTGTGCCCCACTCTCTCATCCAAGATCCTGCCTCACCTGTAGCTTCTGCTCAGTGACAAAGTATGCGCAAAGCAGGGAGCCGGCGAGGAGCCCGAGCCCAATCACCAGGTTCTGGGTCTGATTTAGTAAAACCAGTGAAGCGCTCGACTTCCACTCCAAACCCTGAGGGCAATAACACAGGAAGAGGAATGTCCTATACACAATGGCCATCAGTGAGTCCAAACCTGGGCCCAGGCCCCTTCTACCCCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCACGCCTCACACCACTGCCACCGGGCCCTCTGTTACCGTCTCGAAGTTTAGCAGAGAGTCCACTGCTCGTGCCCGGGTAGCGTTCTCCTGTGTGTTCATAGCACGACGAAACTTGGTTCTCCACTCAGTGACCACAATGGTCAGGGCTGGAGAGTGACAGGATGGGGAGCAGAATAGGACATCATCCCCAAAAGCAGAGACCAAATGTCAATGTCCACTACCTGCCATGTACACACTAAGCCTATGCTCAAGCCCGGACACCCAGATTCCACAGGGAGGCACCTCTGCAGCCTGCACAAAGTCTCATGTGTAGAAAACGCTTTTGGTAAATGAAAGCAAGCTGCATCTTGTTACACAAACGAGGCTTCCTTGACCTGTGTCCACGGCTCAGACTTAACGTGACAAGAATGTCCTTCCCCAGCCCCTCAGCTAGGTTAAGGTTTGATTTGACAGAAGAGACCCGCCCATCACATGACGAGCACTAGGAGCCCATTCAAGTCCACCAATCCACAGCCTCCCATAGGTGGGTCACTTGAGTGGGGGCACAGCTCATGGCCAAGGGAGTCCCTGGATAGTTCAGGGAGACGGTGTCTCCCAGCAGCACTCACTGAGGTAAAGACTCATGCACAGGAACACAATGAGGCCAAACCAGGCGTTGAAGAACATGCTGAAGTAGATGATGCCAATGATGATGTCGGCCAGCGTGGGGATGACATTGAACACCAGGTAGCTAGGAGGGCAGGTCAAGTGAATAAGAAAGGTCTGGGGGCTTAGACCCAGCAACCCTGCCTCTAGGCATTTCAGGGTAGTGTTTTATTTTCAAGCAACAGACTGGAACCAGTCTTAATTAATTCTACCCTCAAGAGGTGGGTGGCTAAATCAACCATGCTCAAACTACAGAATTCTCTGTATCAATTACAATGAATGAGGGAGACCTTCAGGCATGGAAGAAAAATATATCTCCATAATGTTCTGTTAATAAGCAACTCTGAGAATGATGGCTATGTCACAATACCATTTGTTTTAGGAAAAACCTCCACAATGCCATATTAGTTCTGTGAGTCTGCATATATAATATGTATGTAAAAATGCAAAAAAGCAGAACCCAGCTGGGCACAATGGCTCACAACTGTAATCCCAGCACTTTGGAATGCTAGGTGGGCAGATCACATGATGCTAGGAGTTCCAGG 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TGCTTGAGACTACGTCAAGCTAATTTTTAATTTTTTGTTGAGATGGGGTTGCCAGGTATGTTGCCCAGGCTGGTCTCAAAATCCTGGACTCAAATGATCCTGCTGCCTTGACCTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCTACAGAATATCGTTGTACCTTTTTTTTTTTTTTTTTTTTGTTTTGCTTTTTGTTTTGAGACAGGGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCCTGGTGGGACTACATGTGTGTGCCACCATGGCCAGCTAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCACTCTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCAAATTTTTTGTATTTTTCGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGCCCAGCAATTTTTGTATTTTTTGTAGAGAGGGTGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTTTGTAGCTTTTATGGCACCATACAAATCCTTAACATGACTACTTTACTTGTGTGACTGTAGGTTATATCATGCTAGAATGGCCCTAGTTTTTTTGCAAGGGTGACATCTCCTCTCTCTGGACAGCCAGCCCTTATCATTCCTCCACACGTAGACCCCTAAACCACCGTCTTCTCCAGAGCAACCCTACCTGTGAAATGTCCTGCCCATCTATTCGGATGCAGCCAGAGCTGATGTCGTAGAAGCGAAACAGCAGGCGCAAAATTGTGCTCTTCCCTGCCCCAGATGGGCCCACCTGTTGCATTGGAAATGGGAAAAATCTCAGGCCCACTGGCTTTTTTTTTGAGACCGAATCTCACTCCGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTAGAACCTCTGCCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCTAGTAGTGGGATTATAGGCACCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTAACCTTAGGTGATCTGGCCACCTAAGCCTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCGCAGCCGGCCGAGGCCCACTGGCTTTTGAGGTTCCCTCTCCAAGAGGTCACCAGTGTCCATGGAGGCTGCACCATTCAATCCGGTTGCCTATCGTGACTGGGCTCTCTGACTCCACAGCCTGGGTCACAAGCTACCATGGGCACTGAATGAGGGAAGCTTGAGGCATCTGGGCCAAGTGGCTGGGTCTCCTCTCACCAGGGCAAGTGTCTGTCCAGGCATCACAGTGAAAGACACGTCCTGCAGAGTCTCCCGCCTGCAAGGAAAGGTGGGGTTGCTCAGCAGGCACCTTCCATCACCAGAGCTGCTAGTAGGCCCTGCCCCTCCCCTGCCCAGGCTCTTTTCCAAAAGCAGGGATTCAGAGCACTGAGAAGCAGGAAGGCAGTGTGCAAATGAACGGAAAAGCAAAGGAAGCAAAAGGAAGGCCTCACCCATCGGCATAGCTGAAGTGCACGTTCTCAAACTCAATACGGCCCTTCTGAAAGCGAAGGGGCCCTGCTCCAGGAAGGTCCTTCACCTGGAAGGGCACCACCCATGTGTGCTGAGGTTCTCAGCTTTGTGTTTTCCAAGCACGAGAAACACCACACAGCTCCTCCCTCCCCAAACCCTACTCCTCTCCCTTCGCTCACTTCTGTCTCCTCTTTCAGCAAGTCAAACATGTTCTCCATGTCAATGAAGTTGGTCTTGATCATCCTGCAAAAAGGTGCTGGTTAGGACTTCTCTGAGTAGCCAGGAAATAATAATGTGCCCTGGACAGGTGAGGGCCAGGGCTCAGATTACCTGTAGTAGGTGCCAAACCAATTGAGGGGCATGTACAGCTGGATAATGTAGGTGCCAAAGAGCACATAGTCCCCAACCTGTGGCAATCAAGGAAGCAGAGCATGTCACGGGGGGCCTGCAGGCCGCTCTTCTTGTGTCACCCTGCCCACTTCCTACCGAAGAGCCTGGTGACCAGACACAGGCCTCAGGCCCCCTTTTCCTTGTGCCCCACTCTCTCATCCAAGATCCTGCCTCACCTGTAGCTTCTGCTCAGTGACAAAGTATGCGCAAAGCAGGGAGCCGGCGAGGAGCCCGAGCCCAATCACCAGGTTCTGGGTCTGATTTAGTAAAACCAGTGAAGCGCTCGACTTCCACTCCAAACCCTGAGGGCAATAACACAGGAAGAGGAATGTCCTATACACAATGGCCATCAGTGAGTCCAAACCTGGGCCCAGGCCCCTTCTACCCCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCACGCCTCACACCACTGCCACCGGGCCCTCTGTTACCGTCTCGAAGTTTAGCAGAGAGTCCACTGCTCGTGCCCGGGTAGCGTTCTCCTGTGTGTTCATAGCACGACGAAACTTGGTTCTCCACTCAGTGACCACAATGGTCAGGGCTGGAGAGTGACAGGATGGGGAGCAGAATAGGACATCATCCCCAAAAGCAGAGACCAAATGTCAATGTCCACTACCTGCCATGTACACACTAAGCCTATGCTCAAGCCCGGACACCCAGATTCCACAGGGAGGCACCTCTGCAGCCTGCACAAAGTCTCATGTGTAGAAAACGCTTTTGGTAAATGAAAGCAAGCTGCATCTTGTTACACAAACGAGGCTTCCTTGACCTGTGTCCACGGCTCAGACTTAACGTGACAAGAATGTCCTTCCCCAGCCCCTCAGCTAGGTTAAGGTTTGATTTGACAGAAGAGACCCGCCCATCACATGACGAGCACTAGGAGCCCATTCAAGTCCACCAATCCACAGCCTCCCATAGGTGGGTCACTTGAGTGGGGGCACAGCTCATGGCCAAGGGAGTCCCTGGATAGTTCAGGGAGACGGTGTCTCCCAGCAGCACTCACTGAGGTAAAGACTCATGCACAGGAACACAATGAGGCCAAACCAGGCGTTGAAGAACATGCTGAAGTAGATGATGCCAATGATGATGTCGGCCAGCGTGGGGATGACATTGAACACCAGGTAGCTAGGAGGGCAGGTCAAGTGAATAAGAAAGGTCTGGGGGCTTAGACCCAGCAACCCTGCCTCTAGGCATTTCAGGGTAGTGTTTTATTTTCAAGCAACAGACTGGAACCAGTCTTAATTAATTCTACCCTCAAGAGGTGGGTGGCTAAATCAACCATGCTCAAACTACAGAATTCTCTGTATCAATTACAATGAATGAGGGAGACCTTCAGGCATGGAAGAAAAATATATCTCCATAATGTTCTGTTAATAAGCAACTCTGAGAATGATGGCTATGTCACAATACCATTTGTTTTAGGAAAAACCTCCACAATGCCATATTAGTTCTGTGAGTCTGCATATATAATATGTATGTAAAAATGCAAAAAAGCAGAACCCAGCTGGGCACAATGGCTCACAACTGTAATCCCAGCACTTTGGAATGCTAGGTGGGCAGATCACATGATGCTAGGAGTTCCAGG 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Task1_train_5496 | A variant affecting Chromosome 2, within the gene ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial pseudohyperkalemia | TGTCCTATACACAATGGCCATCAGTGAGTCCAAACCTGGGCCCAGGCCCCTTCTACCCCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCACGCCTCACACCACTGCCACCGGGCCCTCTGTTACCGTCTCGAAGTTTAGCAGAGAGTCCACTGCTCGTGCCCGGGTAGCGTTCTCCTGTGTGTTCATAGCACGACGAAACTTGGTTCTCCACTCAGTGACCACAATGGTCAGGGCTGGAGAGTGACAGGATGGGGAGCAGAATAGGACATCATCCCCAAAAGCAGAGACCAAATGTCAATGTCCACTACCTGCCATGTACACACTAAGCCTATGCTCAAGCCCGGACACCCAGATTCCACAGGGAGGCACCTCTGCAGCCTGCACAAAGTCTCATGTGTAGAAAACGCTTTTGGTAAATGAAAGCAAGCTGCATCTTGTTACACAAACGAGGCTTCCTTGACCTGTGTCCACGGCTCAGACTTAACGTGACAAGAATGTCCTTCCCCAGCCCCTCAGCTAGGTTAAGGTTTGATTTGACAGAAGAGACCCGCCCATCACATGACGAGCACTAGGAGCCCATTCAAGTCCACCAATCCACAGCCTCCCATAGGTGGGTCACTTGAGTGGGGGCACAGCTCATGGCCAAGGGAGTCCCTGGATAGTTCAGGGAGACGGTGTCTCCCAGCAGCACTCACTGAGGTAAAGACTCATGCACAGGAACACAATGAGGCCAAACCAGGCGTTGAAGAACATGCTGAAGTAGATGATGCCAATGATGATGTCGGCCAGCGTGGGGATGACATTGAACACCAGGTAGCTAGGAGGGCAGGTCAAGTGAATAAGAAAGGTCTGGGGGCTTAGACCCAGCAACCCTGCCTCTAGGCATTTCAGGGTAGTGTTTTATTTTCAAGCAACAGACTGGAACCAGTCTTAATTAATTCTACCCTCAAGAGGTGGGTGGCTAAATCAACCATGCTCAAACTACAGAATTCTCTGTATCAATTACAATGAATGAGGGAGACCTTCAGGCATGGAAGAAAAATATATCTCCATAATGTTCTGTTAATAAGCAACTCTGAGAATGATGGCTATGTCACAATACCATTTGTTTTAGGAAAAACCTCCACAATGCCATATTAGTTCTGTGAGTCTGCATATATAATATGTATGTAAAAATGCAAAAAAGCAGAACCCAGCTGGGCACAATGGCTCACAACTGTAATCCCAGCACTTTGGAATGCTAGGTGGGCAGATCACATGATGCTAGGAGTTCCAGGCCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACAAAAAATCTAATAATTAGCCAGGCATGCTGGTGCACATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATTATGCCACTGTACTCCAGCCTGGGTGACAGAGCGTGACCCTGTCTCAAAAAAAGAGCAGAACCCAACATACTAAACAGAGTGGGAAGCTCTGAAAAAGTAAGTGCAGCTCGAAAGAGATTTGCCCTCTGCCCGCATTACCTAAGTTATTAGGAGAGCATGTATACAATAATCCTATACTTTAAAAAACACCAAGGTGGGAGCGGCAGCTTCTCAGGCGGGGTCTGTTCTCTTCCTCCCACGGGCCCCTATCCCTGCTTCTCCGGCTCCACCCTCCCACATGCCCTTTCCACTGGGGCGGCACCTGAGCAGCCCTGTGACACTGGATGTGCCCCGATCCGCGATCCGCAGCACCTCCCCTGTGCGGCGCCCCAGGTGCCAGCGCAGTGAGAGCTCGTGCAGGTGGGAGAAGATGAGCAGCTCCACCCGCCGAGACGTGAACTGCTGCACCCGGATCCACAGGAAGGTGCGCAGGTTGCTCACGAAGCCTGCAGGGAGCCGGGGGACGCCTCAGTAGGGCCTGGGAGCTGAGGGACGTCAGCCCAGCACCAGGATGTGAAAGGTCTGAGAGTACATGGGGGCTGGGGAGGAATGCTGGGAGAGGCGGATGCTGAGGGAATGCCTGTGGGAGGGACCTATACCTAGCAGGGTGAGGGCGGAGTCTCTCATACCTGTACTGCCAGTGCCACCCCCCTGGAGGAACTTGAGGAAGACGTAACTGGTAACAGTCCAGGCCAGAGAGTTCCAAGGTGCCTTCTCAGTCAGCAAGTTCACTGTGGAGGAAACGAGTCAGAACCCACTTATGGCGCCCAGGACTCTCTTCAGGCAAAATGGCCCCAGGTACCAGCCACAGTCTCTTTCTGACCACCCAGCTCTGTCCCACCTCCCTAGGTAAGGACCATCCCAGCCACCAGGCTGATGAAGGACCAGCACACTGAGCTGGTGCTCCTCCTGCTCACCAATGTTCCTATAGAATATAGGCACCAACACATTGAGTGCCCGTTCCAAACCCATGAGCCCCAGGCAGATGAGCACCACCAGCTGCAGAGCTGGACTCCCTCGAGGCCACAGGTAGCCACTCAGGAGGCGGAGCTTCCTGCCAAAATCTCGCCAGGTAGACTGTTGGGCTGCTGACCGAACCTAGGATGGTGAAACACGTAGGAAGGGAGCTCAGAAATCAAGTAAGTGCACTAGCCAGAAACCCTTCAGGGAAAAACCTATGGGGTTACAGCTCCCAGGTATCTCAGACCCACAAGTGATCCTTGATGGGGTCAGAAAAACTAAGTTGCAAACTGAGATTTGGAAAAGAAGCATTTCATTTTGGGGGAAGGAATGATGACAGGGAATGAAATGAAGAGACTCCAGGATTCAGAAACTGAGGTGGGGTCTGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCAGGTGGGTCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCGGGTACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGTTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCTGAGATCGCGCCACTACACTCCAGCCTGGGTGACGGAGCAAGATTCCGTCTTAAAAACAAAAAGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAATGCTGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGTCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCCAAAAAAAAAAAGAAACTGAGGTGTACCTGGCTCCTTTCCACATCTTGGTCCTCTTCATGAACCTGCAATGTATAGGACTGGGGACGAAGTCCAGGGGCCCAGAGACCCAGGACAAACAGCCCTCCAGAGACCACATACCGCAGCACCCACAGGCTAAACTGAACCTAGAATGAAATATAAGTGGAGAGAGTATCATTGAGGATAAAATTTCATTGTATTACTACTTATAATAGGGCCGGGGACTGGTGTCATGAACACATTCAGCACTTACAGGCTTAAAAAAAAAAAAAAAAGCAAAACCACAGTGACTCAGCAAAGACACACCCCACCAGCTGGCTATCAGCTCCCGGCAGGACTCAGCCCCTCCCTTCTCCCTTTGCTTAGAGGCATCCTAAAGCCTGGAAGCAGTGTGACTGGACATGCAGTGCTTT 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TGTCCTATACACAATGGCCATCAGTGAGTCCAAACCTGGGCCCAGGCCCCTTCTACCCCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCACGCCTCACACCACTGCCACCGGGCCCTCTGTTACCGTCTCGAAGTTTAGCAGAGAGTCCACTGCTCGTGCCCGGGTAGCGTTCTCCTGTGTGTTCATAGCACGACGAAACTTGGTTCTCCACTCAGTGACCACAATGGTCAGGGCTGGAGAGTGACAGGATGGGGAGCAGAATAGGACATCATCCCCAAAAGCAGAGACCAAATGTCAATGTCCACTACCTGCCATGTACACACTAAGCCTATGCTCAAGCCCGGACACCCAGATTCCACAGGGAGGCACCTCTGCAGCCTGCACAAAGTCTCATGTGTAGAAAACGCTTTTGGTAAATGAAAGCAAGCTGCATCTTGTTACACAAACGAGGCTTCCTTGACCTGTGTCCACGGCTCAGACTTAACGTGACAAGAATGTCCTTCCCCAGCCCCTCAGCTAGGTTAAGGTTTGATTTGACAGAAGAGACCCGCCCATCACATGACGAGCACTAGGAGCCCATTCAAGTCCACCAATCCACAGCCTCCCATAGGTGGGTCACTTGAGTGGGGGCACAGCTCATGGCCAAGGGAGTCCCTGGATAGTTCAGGGAGACGGTGTCTCCCAGCAGCACTCACTGAGGTAAAGACTCATGCACAGGAACACAATGAGGCCAAACCAGGCGTTGAAGAACATGCTGAAGTAGATGATGCCAATGATGATGTCGGCCAGCGTGGGGATGACATTGAACACCAGGTAGCTAGGAGGGCAGGTCAAGTGAATAAGAAAGGTCTGGGGGCTTAGACCCAGCAACCCTGCCTCTAGGCATTTCAGGGTAGTGTTTTATTTTCAAGCAACAGACTGGAACCAGTCTTAATTAATTCTACCCTCAAGAGGTGGGTGGCTAAATCAACCATGCTCAAACTACAGAATTCTCTGTATCAATTACAATGAATGAGGGAGACCTTCAGGCATGGAAGAAAAATATATCTCCATAATGTTCTGTTAATAAGCAACTCTGAGAATGATGGCTATGTCACAATACCATTTGTTTTAGGAAAAACCTCCACAATGCCATATTAGTTCTGTGAGTCTGCATATATAATATGTATGTAAAAATGCAAAAAAGCAGAACCCAGCTGGGCACAATGGCTCACAACTGTAATCCCAGCACTTTGGAATGCTAGGTGGGCAGATCACATGATGCTAGGAGTTCCAGGCCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACAAAAAATCTAATAATTAGCCAGGCATGCTGGTGCACATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATTATGCCACTGTACTCCAGCCTGGGTGACAGAGCGTGACCCTGTCTCAAAAAAAGAGCAGAACCCAACATACTAAACAGAGTGGGAAGCTCTGAAAAAGTAAGTGCAGCTCGAAAGAGATTTGCCCTCTGCCCGCATTACCTAAGTTATTAGGAGAGCATGTATACAATAATCCTATACTTTAAAAAACACCAAGGTGGGAGCGGCAGCTTCTCAGGCGGGGTCTGTTCTCTTCCTCCCACGGGCCCCTATCCCTGCTTCTCCGGCTCCACCCTCCCACATGCCCTTTCCACTGGGGCGGCACCTGAGCAGCCCTGTGACACTGGATGTGCCCTGATCCGCGATCCGCAGCACCTCCCCTGTGCGGCGCCCCAGGTGCCAGCGCAGTGAGAGCTCGTGCAGGTGGGAGAAGATGAGCAGCTCCACCCGCCGAGACGTGAACTGCTGCACCCGGATCCACAGGAAGGTGCGCAGGTTGCTCACGAAGCCTGCAGGGAGCCGGGGGACGCCTCAGTAGGGCCTGGGAGCTGAGGGACGTCAGCCCAGCACCAGGATGTGAAAGGTCTGAGAGTACATGGGGGCTGGGGAGGAATGCTGGGAGAGGCGGATGCTGAGGGAATGCCTGTGGGAGGGACCTATACCTAGCAGGGTGAGGGCGGAGTCTCTCATACCTGTACTGCCAGTGCCACCCCCCTGGAGGAACTTGAGGAAGACGTAACTGGTAACAGTCCAGGCCAGAGAGTTCCAAGGTGCCTTCTCAGTCAGCAAGTTCACTGTGGAGGAAACGAGTCAGAACCCACTTATGGCGCCCAGGACTCTCTTCAGGCAAAATGGCCCCAGGTACCAGCCACAGTCTCTTTCTGACCACCCAGCTCTGTCCCACCTCCCTAGGTAAGGACCATCCCAGCCACCAGGCTGATGAAGGACCAGCACACTGAGCTGGTGCTCCTCCTGCTCACCAATGTTCCTATAGAATATAGGCACCAACACATTGAGTGCCCGTTCCAAACCCATGAGCCCCAGGCAGATGAGCACCACCAGCTGCAGAGCTGGACTCCCTCGAGGCCACAGGTAGCCACTCAGGAGGCGGAGCTTCCTGCCAAAATCTCGCCAGGTAGACTGTTGGGCTGCTGACCGAACCTAGGATGGTGAAACACGTAGGAAGGGAGCTCAGAAATCAAGTAAGTGCACTAGCCAGAAACCCTTCAGGGAAAAACCTATGGGGTTACAGCTCCCAGGTATCTCAGACCCACAAGTGATCCTTGATGGGGTCAGAAAAACTAAGTTGCAAACTGAGATTTGGAAAAGAAGCATTTCATTTTGGGGGAAGGAATGATGACAGGGAATGAAATGAAGAGACTCCAGGATTCAGAAACTGAGGTGGGGTCTGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCAGGTGGGTCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCGGGTACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGTTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCTGAGATCGCGCCACTACACTCCAGCCTGGGTGACGGAGCAAGATTCCGTCTTAAAAACAAAAAGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAATGCTGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGTCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCCAAAAAAAAAAAGAAACTGAGGTGTACCTGGCTCCTTTCCACATCTTGGTCCTCTTCATGAACCTGCAATGTATAGGACTGGGGACGAAGTCCAGGGGCCCAGAGACCCAGGACAAACAGCCCTCCAGAGACCACATACCGCAGCACCCACAGGCTAAACTGAACCTAGAATGAAATATAAGTGGAGAGAGTATCATTGAGGATAAAATTTCATTGTATTACTACTTATAATAGGGCCGGGGACTGGTGTCATGAACACATTCAGCACTTACAGGCTTAAAAAAAAAAAAAAAAGCAAAACCACAGTGACTCAGCAAAGACACACCCCACCAGCTGGCTATCAGCTCCCGGCAGGACTCAGCCCCTCCCTTCTCCCTTTGCTTAGAGGCATCCTAAAGCCTGGAAGCAGTGTGACTGGACATGCAGTGCTTT 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Task1_train_5497 | This variant affects gene ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Dyschromatosis universalis hereditaria 3 | CCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCACGCCTCACACCACTGCCACCGGGCCCTCTGTTACCGTCTCGAAGTTTAGCAGAGAGTCCACTGCTCGTGCCCGGGTAGCGTTCTCCTGTGTGTTCATAGCACGACGAAACTTGGTTCTCCACTCAGTGACCACAATGGTCAGGGCTGGAGAGTGACAGGATGGGGAGCAGAATAGGACATCATCCCCAAAAGCAGAGACCAAATGTCAATGTCCACTACCTGCCATGTACACACTAAGCCTATGCTCAAGCCCGGACACCCAGATTCCACAGGGAGGCACCTCTGCAGCCTGCACAAAGTCTCATGTGTAGAAAACGCTTTTGGTAAATGAAAGCAAGCTGCATCTTGTTACACAAACGAGGCTTCCTTGACCTGTGTCCACGGCTCAGACTTAACGTGACAAGAATGTCCTTCCCCAGCCCCTCAGCTAGGTTAAGGTTTGATTTGACAGAAGAGACCCGCCCATCACATGACGAGCACTAGGAGCCCATTCAAGTCCACCAATCCACAGCCTCCCATAGGTGGGTCACTTGAGTGGGGGCACAGCTCATGGCCAAGGGAGTCCCTGGATAGTTCAGGGAGACGGTGTCTCCCAGCAGCACTCACTGAGGTAAAGACTCATGCACAGGAACACAATGAGGCCAAACCAGGCGTTGAAGAACATGCTGAAGTAGATGATGCCAATGATGATGTCGGCCAGCGTGGGGATGACATTGAACACCAGGTAGCTAGGAGGGCAGGTCAAGTGAATAAGAAAGGTCTGGGGGCTTAGACCCAGCAACCCTGCCTCTAGGCATTTCAGGGTAGTGTTTTATTTTCAAGCAACAGACTGGAACCAGTCTTAATTAATTCTACCCTCAAGAGGTGGGTGGCTAAATCAACCATGCTCAAACTACAGAATTCTCTGTATCAATTACAATGAATGAGGGAGACCTTCAGGCATGGAAGAAAAATATATCTCCATAATGTTCTGTTAATAAGCAACTCTGAGAATGATGGCTATGTCACAATACCATTTGTTTTAGGAAAAACCTCCACAATGCCATATTAGTTCTGTGAGTCTGCATATATAATATGTATGTAAAAATGCAAAAAAGCAGAACCCAGCTGGGCACAATGGCTCACAACTGTAATCCCAGCACTTTGGAATGCTAGGTGGGCAGATCACATGATGCTAGGAGTTCCAGGCCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACAAAAAATCTAATAATTAGCCAGGCATGCTGGTGCACATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATTATGCCACTGTACTCCAGCCTGGGTGACAGAGCGTGACCCTGTCTCAAAAAAAGAGCAGAACCCAACATACTAAACAGAGTGGGAAGCTCTGAAAAAGTAAGTGCAGCTCGAAAGAGATTTGCCCTCTGCCCGCATTACCTAAGTTATTAGGAGAGCATGTATACAATAATCCTATACTTTAAAAAACACCAAGGTGGGAGCGGCAGCTTCTCAGGCGGGGTCTGTTCTCTTCCTCCCACGGGCCCCTATCCCTGCTTCTCCGGCTCCACCCTCCCACATGCCCTTTCCACTGGGGCGGCACCTGAGCAGCCCTGTGACACTGGATGTGCCCCGATCCGCGATCCGCAGCACCTCCCCTGTGCGGCGCCCCAGGTGCCAGCGCAGTGAGAGCTCGTGCAGGTGGGAGAAGATGAGCAGCTCCACCCGCCGAGACGTGAACTGCTGCACCCGGATCCACAGGAAGGTGCGCAGGTTGCTCACGAAGCCTGCAGGGAGCCGGGGGACGCCTCAGTAGGGCCTGGGAGCTGAGGGACGTCAGCCCAGCACCAGGATGTGAAAGGTCTGAGAGTACATGGGGGCTGGGGAGGAATGCTGGGAGAGGCGGATGCTGAGGGAATGCCTGTGGGAGGGACCTATACCTAGCAGGGTGAGGGCGGAGTCTCTCATACCTGTACTGCCAGTGCCACCCCCCTGGAGGAACTTGAGGAAGACGTAACTGGTAACAGTCCAGGCCAGAGAGTTCCAAGGTGCCTTCTCAGTCAGCAAGTTCACTGTGGAGGAAACGAGTCAGAACCCACTTATGGCGCCCAGGACTCTCTTCAGGCAAAATGGCCCCAGGTACCAGCCACAGTCTCTTTCTGACCACCCAGCTCTGTCCCACCTCCCTAGGTAAGGACCATCCCAGCCACCAGGCTGATGAAGGACCAGCACACTGAGCTGGTGCTCCTCCTGCTCACCAATGTTCCTATAGAATATAGGCACCAACACATTGAGTGCCCGTTCCAAACCCATGAGCCCCAGGCAGATGAGCACCACCAGCTGCAGAGCTGGACTCCCTCGAGGCCACAGGTAGCCACTCAGGAGGCGGAGCTTCCTGCCAAAATCTCGCCAGGTAGACTGTTGGGCTGCTGACCGAACCTAGGATGGTGAAACACGTAGGAAGGGAGCTCAGAAATCAAGTAAGTGCACTAGCCAGAAACCCTTCAGGGAAAAACCTATGGGGTTACAGCTCCCAGGTATCTCAGACCCACAAGTGATCCTTGATGGGGTCAGAAAAACTAAGTTGCAAACTGAGATTTGGAAAAGAAGCATTTCATTTTGGGGGAAGGAATGATGACAGGGAATGAAATGAAGAGACTCCAGGATTCAGAAACTGAGGTGGGGTCTGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCAGGTGGGTCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCGGGTACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGTTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCTGAGATCGCGCCACTACACTCCAGCCTGGGTGACGGAGCAAGATTCCGTCTTAAAAACAAAAAGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAATGCTGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGTCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCCAAAAAAAAAAAGAAACTGAGGTGTACCTGGCTCCTTTCCACATCTTGGTCCTCTTCATGAACCTGCAATGTATAGGACTGGGGACGAAGTCCAGGGGCCCAGAGACCCAGGACAAACAGCCCTCCAGAGACCACATACCGCAGCACCCACAGGCTAAACTGAACCTAGAATGAAATATAAGTGGAGAGAGTATCATTGAGGATAAAATTTCATTGTATTACTACTTATAATAGGGCCGGGGACTGGTGTCATGAACACATTCAGCACTTACAGGCTTAAAAAAAAAAAAAAAAGCAAAACCACAGTGACTCAGCAAAGACACACCCCACCAGCTGGCTATCAGCTCCCGGCAGGACTCAGCCCCTCCCTTCTCCCTTTGCTTAGAGGCATCCTAAAGCCTGGAAGCAGTGTGACTGGACATGCAGTGCTTTCTCCCAAGCCCGGCCAGCAGAGGCTTCCCCCTTCCCACAGAGTCCCTCACCTGCTGG 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CCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCACGCCTCACACCACTGCCACCGGGCCCTCTGTTACCGTCTCGAAGTTTAGCAGAGAGTCCACTGCTCGTGCCCGGGTAGCGTTCTCCTGTGTGTTCATAGCACGACGAAACTTGGTTCTCCACTCAGTGACCACAATGGTCAGGGCTGGAGAGTGACAGGATGGGGAGCAGAATAGGACATCATCCCCAAAAGCAGAGACCAAATGTCAATGTCCACTACCTGCCATGTACACACTAAGCCTATGCTCAAGCCCGGACACCCAGATTCCACAGGGAGGCACCTCTGCAGCCTGCACAAAGTCTCATGTGTAGAAAACGCTTTTGGTAAATGAAAGCAAGCTGCATCTTGTTACACAAACGAGGCTTCCTTGACCTGTGTCCACGGCTCAGACTTAACGTGACAAGAATGTCCTTCCCCAGCCCCTCAGCTAGGTTAAGGTTTGATTTGACAGAAGAGACCCGCCCATCACATGACGAGCACTAGGAGCCCATTCAAGTCCACCAATCCACAGCCTCCCATAGGTGGGTCACTTGAGTGGGGGCACAGCTCATGGCCAAGGGAGTCCCTGGATAGTTCAGGGAGACGGTGTCTCCCAGCAGCACTCACTGAGGTAAAGACTCATGCACAGGAACACAATGAGGCCAAACCAGGCGTTGAAGAACATGCTGAAGTAGATGATGCCAATGATGATGTCGGCCAGCGTGGGGATGACATTGAACACCAGGTAGCTAGGAGGGCAGGTCAAGTGAATAAGAAAGGTCTGGGGGCTTAGACCCAGCAACCCTGCCTCTAGGCATTTCAGGGTAGTGTTTTATTTTCAAGCAACAGACTGGAACCAGTCTTAATTAATTCTACCCTCAAGAGGTGGGTGGCTAAATCAACCATGCTCAAACTACAGAATTCTCTGTATCAATTACAATGAATGAGGGAGACCTTCAGGCATGGAAGAAAAATATATCTCCATAATGTTCTGTTAATAAGCAACTCTGAGAATGATGGCTATGTCACAATACCATTTGTTTTAGGAAAAACCTCCACAATGCCATATTAGTTCTGTGAGTCTGCATATATAATATGTATGTAAAAATGCAAAAAAGCAGAACCCAGCTGGGCACAATGGCTCACAACTGTAATCCCAGCACTTTGGAATGCTAGGTGGGCAGATCACATGATGCTAGGAGTTCCAGGCCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACAAAAAATCTAATAATTAGCCAGGCATGCTGGTGCACATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATTATGCCACTGTACTCCAGCCTGGGTGACAGAGCGTGACCCTGTCTCAAAAAAAGAGCAGAACCCAACATACTAAACAGAGTGGGAAGCTCTGAAAAAGTAAGTGCAGCTCGAAAGAGATTTGCCCTCTGCCCGCATTACCTAAGTTATTAGGAGAGCATGTATACAATAATCCTATACTTTAAAAAACACCAAGGTGGGAGCGGCAGCTTCTCAGGCGGGGTCTGTTCTCTTCCTCCCACGGGCCCCTATCCCTGCTTCTCCGGCTCCACCCTCCCACATGCCCTTTCCACTGGGGCGGCACCTGAGCAGCCCTGTGACACTGGATGTGCCCCGATCCGCGATCCGCAGCACCTCCCCTGTGCGGCGCCCCAGGTGCCAGCGCAGTGAGGGCTCGTGCAGGTGGGAGAAGATGAGCAGCTCCACCCGCCGAGACGTGAACTGCTGCACCCGGATCCACAGGAAGGTGCGCAGGTTGCTCACGAAGCCTGCAGGGAGCCGGGGGACGCCTCAGTAGGGCCTGGGAGCTGAGGGACGTCAGCCCAGCACCAGGATGTGAAAGGTCTGAGAGTACATGGGGGCTGGGGAGGAATGCTGGGAGAGGCGGATGCTGAGGGAATGCCTGTGGGAGGGACCTATACCTAGCAGGGTGAGGGCGGAGTCTCTCATACCTGTACTGCCAGTGCCACCCCCCTGGAGGAACTTGAGGAAGACGTAACTGGTAACAGTCCAGGCCAGAGAGTTCCAAGGTGCCTTCTCAGTCAGCAAGTTCACTGTGGAGGAAACGAGTCAGAACCCACTTATGGCGCCCAGGACTCTCTTCAGGCAAAATGGCCCCAGGTACCAGCCACAGTCTCTTTCTGACCACCCAGCTCTGTCCCACCTCCCTAGGTAAGGACCATCCCAGCCACCAGGCTGATGAAGGACCAGCACACTGAGCTGGTGCTCCTCCTGCTCACCAATGTTCCTATAGAATATAGGCACCAACACATTGAGTGCCCGTTCCAAACCCATGAGCCCCAGGCAGATGAGCACCACCAGCTGCAGAGCTGGACTCCCTCGAGGCCACAGGTAGCCACTCAGGAGGCGGAGCTTCCTGCCAAAATCTCGCCAGGTAGACTGTTGGGCTGCTGACCGAACCTAGGATGGTGAAACACGTAGGAAGGGAGCTCAGAAATCAAGTAAGTGCACTAGCCAGAAACCCTTCAGGGAAAAACCTATGGGGTTACAGCTCCCAGGTATCTCAGACCCACAAGTGATCCTTGATGGGGTCAGAAAAACTAAGTTGCAAACTGAGATTTGGAAAAGAAGCATTTCATTTTGGGGGAAGGAATGATGACAGGGAATGAAATGAAGAGACTCCAGGATTCAGAAACTGAGGTGGGGTCTGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCAGGTGGGTCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCGGGTACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGTTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCTGAGATCGCGCCACTACACTCCAGCCTGGGTGACGGAGCAAGATTCCGTCTTAAAAACAAAAAGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAATGCTGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGTCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCCAAAAAAAAAAAGAAACTGAGGTGTACCTGGCTCCTTTCCACATCTTGGTCCTCTTCATGAACCTGCAATGTATAGGACTGGGGACGAAGTCCAGGGGCCCAGAGACCCAGGACAAACAGCCCTCCAGAGACCACATACCGCAGCACCCACAGGCTAAACTGAACCTAGAATGAAATATAAGTGGAGAGAGTATCATTGAGGATAAAATTTCATTGTATTACTACTTATAATAGGGCCGGGGACTGGTGTCATGAACACATTCAGCACTTACAGGCTTAAAAAAAAAAAAAAAAGCAAAACCACAGTGACTCAGCAAAGACACACCCCACCAGCTGGCTATCAGCTCCCGGCAGGACTCAGCCCCTCCCTTCTCCCTTTGCTTAGAGGCATCCTAAAGCCTGGAAGCAGTGTGACTGGACATGCAGTGCTTTCTCCCAAGCCCGGCCAGCAGAGGCTTCCCCCTTCCCACAGAGTCCCTCACCTGCTGG 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Task1_train_5498 | Gene ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Dyschromatosis universalis hereditaria 3 | CCCGCCGAGACGTGAACTGCTGCACCCGGATCCACAGGAAGGTGCGCAGGTTGCTCACGAAGCCTGCAGGGAGCCGGGGGACGCCTCAGTAGGGCCTGGGAGCTGAGGGACGTCAGCCCAGCACCAGGATGTGAAAGGTCTGAGAGTACATGGGGGCTGGGGAGGAATGCTGGGAGAGGCGGATGCTGAGGGAATGCCTGTGGGAGGGACCTATACCTAGCAGGGTGAGGGCGGAGTCTCTCATACCTGTACTGCCAGTGCCACCCCCCTGGAGGAACTTGAGGAAGACGTAACTGGTAACAGTCCAGGCCAGAGAGTTCCAAGGTGCCTTCTCAGTCAGCAAGTTCACTGTGGAGGAAACGAGTCAGAACCCACTTATGGCGCCCAGGACTCTCTTCAGGCAAAATGGCCCCAGGTACCAGCCACAGTCTCTTTCTGACCACCCAGCTCTGTCCCACCTCCCTAGGTAAGGACCATCCCAGCCACCAGGCTGATGAAGGACCAGCACACTGAGCTGGTGCTCCTCCTGCTCACCAATGTTCCTATAGAATATAGGCACCAACACATTGAGTGCCCGTTCCAAACCCATGAGCCCCAGGCAGATGAGCACCACCAGCTGCAGAGCTGGACTCCCTCGAGGCCACAGGTAGCCACTCAGGAGGCGGAGCTTCCTGCCAAAATCTCGCCAGGTAGACTGTTGGGCTGCTGACCGAACCTAGGATGGTGAAACACGTAGGAAGGGAGCTCAGAAATCAAGTAAGTGCACTAGCCAGAAACCCTTCAGGGAAAAACCTATGGGGTTACAGCTCCCAGGTATCTCAGACCCACAAGTGATCCTTGATGGGGTCAGAAAAACTAAGTTGCAAACTGAGATTTGGAAAAGAAGCATTTCATTTTGGGGGAAGGAATGATGACAGGGAATGAAATGAAGAGACTCCAGGATTCAGAAACTGAGGTGGGGTCTGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCAGGTGGGTCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCGGGTACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGTTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCTGAGATCGCGCCACTACACTCCAGCCTGGGTGACGGAGCAAGATTCCGTCTTAAAAACAAAAAGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAATGCTGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGTCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCCAAAAAAAAAAAGAAACTGAGGTGTACCTGGCTCCTTTCCACATCTTGGTCCTCTTCATGAACCTGCAATGTATAGGACTGGGGACGAAGTCCAGGGGCCCAGAGACCCAGGACAAACAGCCCTCCAGAGACCACATACCGCAGCACCCACAGGCTAAACTGAACCTAGAATGAAATATAAGTGGAGAGAGTATCATTGAGGATAAAATTTCATTGTATTACTACTTATAATAGGGCCGGGGACTGGTGTCATGAACACATTCAGCACTTACAGGCTTAAAAAAAAAAAAAAAAGCAAAACCACAGTGACTCAGCAAAGACACACCCCACCAGCTGGCTATCAGCTCCCGGCAGGACTCAGCCCCTCCCTTCTCCCTTTGCTTAGAGGCATCCTAAAGCCTGGAAGCAGTGTGACTGGACATGCAGTGCTTTCTCCCAAGCCCGGCCAGCAGAGGCTTCCCCCTTCCCACAGAGTCCCTCACCTGCTGGCCCAAGTCTGCCCTTGCCCACCACCACTGTGGGCTGTTCCAAGACACCAGGGCCAAGTTCTCAGCTGCAAACGCCACAGTCCAGAGGAGCAGGAGACCAGGGCTGTGCCTGAACTTGATCCAGATGCCCATTGCCAGACGCTGCCGTGCCTGGCTCCGCTCCACGACAAGCAGCCACAGGCCACAGGCGCCGGCCAGACTCTCCAGCACGGAGGCCAGAAGTAGATAGCTTGGCAGTGGGGCCCCCCGGGCAGTGCCCACCCGGCCAGCCAGGCCGGCCAGGGGCAGCGCCGCCTGAAGTGTGGCCAGAAGCAGCTGCAGCACGTAGGGAGAGATGCGAGGGCCGGCCCCCCAAGACAGCGAATCAGCACCAGCGGGCCGCTCCCGGCGTCTGCAGGGAAGAGCCAGCACCAAGGCCAGAGTCCCCAGAGCCATCCGCGTCGAGGGCACGAGCGTGAAGAAGAAGCAGGGACTCAGGCCATCCTGCATCCAGGCCGGACCCACGGGCCCTTCGGCCTCGCAGTAGTTGCCCACAGTCACCATGGCAATGCGTGGACGCCGGCCGAGGCTGCGGGCACTGCGGGACCGGAGGCCGGGACTGGTCACTCGGAGAGGGGCGCGGACATCCGGGTGCCTTGGCTCACGTAGCCGCTGGGCGCCAAGCTGCGGGGGTCCCGGGAAGGGACGCACGTGGACCAGGCCTCACCGCCCACTCCCCTAGCGCACGCGCCGCCGCCACGCACTCACGCAGGGCACGTACGCCGTCTCAGCACGGCCCCGCTGGCTCTGGGCCCGGGACCCTCCTGCCAACTGCAGGCCCACGGGAATGCTCGGTGTTGGACTCGCACCGCGCTCCACGGCTGTAGCCCCGCCCACAGCCCCTACCCACGGCTCCCATTGGCCAAATGTCTCCGAGGGGGGAGCGGGGGGAATGGTGCAGGCAACGAATGCAAATTAGAGAAGCAGAGCCGGCTTGGTCACGTGCCCAGGGCGGGAAATCTGACGACCAGGCCGAGCTGGAAACCTCCACGGAATCGTGGCTCGGGGCTGGAAACAGACCTCACGGAATCCTGGCTCGGGGCAGGACACAGACCTCCACGGAACTGTGGGTCGGAAGCTGCCCTTCCGCCAGCCGCCTTGCTCAGCGTATCTGAGCGACGGCCTAAACATACTTTCTTCTAGACCCCGGCAGAGTCCCCATCCCATTTCTCTTGTTCCCAGGATTCTAGCCGCGCGAGACAACAAGAAGTCTGGTCAAACTCCCTTTTTATTAAGGGTTATCAAGCTGTACACGGTCCCTACCCTGCTCCGCTCCGAGTTCGGGCAGCGCAATTCACCACTCTCCCAAAGCCGGACCACAGCTGGGTGAGGGGTGGGACAGAGAGTAGGAGCAGTCCCAGCATGCAGTGCAGCAGCCCAAAGCCTCGGGCGAGGCATCGCCCTTCATCCCCCTTCAGGGCACAGCGAGATGCGGGCCAGAGCTCTTTTGCTGGGACGCACACAGCCAAGGTCACCCTCCAGCCCGGTCTGTCCCATGTGCAGGTGATGGGGGGTACGATAAGCAGCAATGAGGGCCCAGGAAGACCTCAGTCTCCTGGGGGCCCATCCTAAAAGATGGCAAGGGCAGCAAAGTATTTCCATCCTGCTCCTACAATTTAGAAACCTTCTTTTTTAGTGTCAAAATATAGCGTTGAGGGGAGCTGGACGCTAGGGTCTTCACCCTAACGCAAAGCAAAAGCCGAACGGAACGGGAGCAAGCGAACAGAACAGGAGCAAGCAGCACACACAGGCCAGTGATGTGCAAGAAGCGGAGAGAGGTGAGCCGGCTGCAGCACTGGGCGAGAACTGCGGGTGAGGTAAGGGCCACAGCCTGACCTGCTCATCTATTGAGGGGGCTAGGGAAGGTTGCAGGGGTTGAGGGTCCAGGCCCAACCTCCCCACTCCACAGTTGGCACAGGTTCTCCCTGCTTGGCAGCTTCTATCGTGGGCAGCCCTCTGGGGACTTGCAGGGGTAGGTGTAAAGGTGGCAGTACTGGGGCTGGGCTGGGGGCCAGTTTCTAGCACCACACTCTGAGCCAAGGGG 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CCCGCCGAGACGTGAACTGCTGCACCCGGATCCACAGGAAGGTGCGCAGGTTGCTCACGAAGCCTGCAGGGAGCCGGGGGACGCCTCAGTAGGGCCTGGGAGCTGAGGGACGTCAGCCCAGCACCAGGATGTGAAAGGTCTGAGAGTACATGGGGGCTGGGGAGGAATGCTGGGAGAGGCGGATGCTGAGGGAATGCCTGTGGGAGGGACCTATACCTAGCAGGGTGAGGGCGGAGTCTCTCATACCTGTACTGCCAGTGCCACCCCCCTGGAGGAACTTGAGGAAGACGTAACTGGTAACAGTCCAGGCCAGAGAGTTCCAAGGTGCCTTCTCAGTCAGCAAGTTCACTGTGGAGGAAACGAGTCAGAACCCACTTATGGCGCCCAGGACTCTCTTCAGGCAAAATGGCCCCAGGTACCAGCCACAGTCTCTTTCTGACCACCCAGCTCTGTCCCACCTCCCTAGGTAAGGACCATCCCAGCCACCAGGCTGATGAAGGACCAGCACACTGAGCTGGTGCTCCTCCTGCTCACCAATGTTCCTATAGAATATAGGCACCAACACATTGAGTGCCCGTTCCAAACCCATGAGCCCCAGGCAGATGAGCACCACCAGCTGCAGAGCTGGACTCCCTCGAGGCCACAGGTAGCCACTCAGGAGGCGGAGCTTCCTGCCAAAATCTCGCCAGGTAGACTGTTGGGCTGCTGACCGAACCTAGGATGGTGAAACACGTAGGAAGGGAGCTCAGAAATCAAGTAAGTGCACTAGCCAGAAACCCTTCAGGGAAAAACCTATGGGGTTACAGCTCCCAGGTATCTCAGACCCACAAGTGATCCTTGATGGGGTCAGAAAAACTAAGTTGCAAACTGAGATTTGGAAAAGAAGCATTTCATTTTGGGGGAAGGAATGATGACAGGGAATGAAATGAAGAGACTCCAGGATTCAGAAACTGAGGTGGGGTCTGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCAGGTGGGTCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCGGGTACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGTTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCTGAGATCGCGCCACTACACTCCAGCCTGGGTGACGGAGCAAGATTCCGTCTTAAAAACAAAAAGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAATGCTGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGTCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCCAAAAAAAAAAAGAAACTGAGGTGTACCTGGCTCCTTTCCACATCTTGGTCCTCTTCATGAACCTGCAATGTATAGGACTGGGGACGAAGTCCAGGGGCCCAGAGACCCAGGACAAACAGCCCTCCAGAGACCACATACCGCAGCACCCACAGGCTAAACTGAACCTAGAATGAAATATAAGTGGAGAGAGTATCATTGAGGATAAAATTTCATTGTATTACTACTTATAATAGGGCCGGGGACTGGTGTCATGAACACATTCAGCACTTACAGGCTTAAAAAAAAAAAAAAAAGCAAAACCACAGTGACTCAGCAAAGACACACCCCACCAGCTGGCTATCAGCTCCCGGCAGGACTCAGCCCCTCCCTTCTCCCTTTGCTTAGAGGCATCCTAAAGCCTGGAAGCAGTGTGACTGGACATGCAGTGCTTTCTCCCAAGCCCGGCCAGCAGAGGCTTCCCCCTTCCCACAGAGTCCCTCACCTGCTGGCCCAAGTCTGCCCTTGCCCACCACCACTGTGGGCCGTTCCAAGACACCAGGGCCAAGTTCTCAGCTGCAAACGCCACAGTCCAGAGGAGCAGGAGACCAGGGCTGTGCCTGAACTTGATCCAGATGCCCATTGCCAGACGCTGCCGTGCCTGGCTCCGCTCCACGACAAGCAGCCACAGGCCACAGGCGCCGGCCAGACTCTCCAGCACGGAGGCCAGAAGTAGATAGCTTGGCAGTGGGGCCCCCCGGGCAGTGCCCACCCGGCCAGCCAGGCCGGCCAGGGGCAGCGCCGCCTGAAGTGTGGCCAGAAGCAGCTGCAGCACGTAGGGAGAGATGCGAGGGCCGGCCCCCCAAGACAGCGAATCAGCACCAGCGGGCCGCTCCCGGCGTCTGCAGGGAAGAGCCAGCACCAAGGCCAGAGTCCCCAGAGCCATCCGCGTCGAGGGCACGAGCGTGAAGAAGAAGCAGGGACTCAGGCCATCCTGCATCCAGGCCGGACCCACGGGCCCTTCGGCCTCGCAGTAGTTGCCCACAGTCACCATGGCAATGCGTGGACGCCGGCCGAGGCTGCGGGCACTGCGGGACCGGAGGCCGGGACTGGTCACTCGGAGAGGGGCGCGGACATCCGGGTGCCTTGGCTCACGTAGCCGCTGGGCGCCAAGCTGCGGGGGTCCCGGGAAGGGACGCACGTGGACCAGGCCTCACCGCCCACTCCCCTAGCGCACGCGCCGCCGCCACGCACTCACGCAGGGCACGTACGCCGTCTCAGCACGGCCCCGCTGGCTCTGGGCCCGGGACCCTCCTGCCAACTGCAGGCCCACGGGAATGCTCGGTGTTGGACTCGCACCGCGCTCCACGGCTGTAGCCCCGCCCACAGCCCCTACCCACGGCTCCCATTGGCCAAATGTCTCCGAGGGGGGAGCGGGGGGAATGGTGCAGGCAACGAATGCAAATTAGAGAAGCAGAGCCGGCTTGGTCACGTGCCCAGGGCGGGAAATCTGACGACCAGGCCGAGCTGGAAACCTCCACGGAATCGTGGCTCGGGGCTGGAAACAGACCTCACGGAATCCTGGCTCGGGGCAGGACACAGACCTCCACGGAACTGTGGGTCGGAAGCTGCCCTTCCGCCAGCCGCCTTGCTCAGCGTATCTGAGCGACGGCCTAAACATACTTTCTTCTAGACCCCGGCAGAGTCCCCATCCCATTTCTCTTGTTCCCAGGATTCTAGCCGCGCGAGACAACAAGAAGTCTGGTCAAACTCCCTTTTTATTAAGGGTTATCAAGCTGTACACGGTCCCTACCCTGCTCCGCTCCGAGTTCGGGCAGCGCAATTCACCACTCTCCCAAAGCCGGACCACAGCTGGGTGAGGGGTGGGACAGAGAGTAGGAGCAGTCCCAGCATGCAGTGCAGCAGCCCAAAGCCTCGGGCGAGGCATCGCCCTTCATCCCCCTTCAGGGCACAGCGAGATGCGGGCCAGAGCTCTTTTGCTGGGACGCACACAGCCAAGGTCACCCTCCAGCCCGGTCTGTCCCATGTGCAGGTGATGGGGGGTACGATAAGCAGCAATGAGGGCCCAGGAAGACCTCAGTCTCCTGGGGGCCCATCCTAAAAGATGGCAAGGGCAGCAAAGTATTTCCATCCTGCTCCTACAATTTAGAAACCTTCTTTTTTAGTGTCAAAATATAGCGTTGAGGGGAGCTGGACGCTAGGGTCTTCACCCTAACGCAAAGCAAAAGCCGAACGGAACGGGAGCAAGCGAACAGAACAGGAGCAAGCAGCACACACAGGCCAGTGATGTGCAAGAAGCGGAGAGAGGTGAGCCGGCTGCAGCACTGGGCGAGAACTGCGGGTGAGGTAAGGGCCACAGCCTGACCTGCTCATCTATTGAGGGGGCTAGGGAAGGTTGCAGGGGTTGAGGGTCCAGGCCCAACCTCCCCACTCCACAGTTGGCACAGGTTCTCCCTGCTTGGCAGCTTCTATCGTGGGCAGCCCTCTGGGGACTTGCAGGGGTAGGTGTAAAGGTGGCAGTACTGGGGCTGGGCTGGGGGCCAGTTTCTAGCACCACACTCTGAGCCAAGGGG 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Task1_train_5499 | A mutation found in TUBA4A (tubulin alpha 4a) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Amyotrophic lateral sclerosis type 22 | GTCAGCTGGAGGCGCTTCAGCCCCCAGCTCCTGGCCAACATACTACCCAAATCTGAAAAAGCAGCATGTTGAGAAGATGGCCCCTTGTGCCTTGGAAAGAGGTTCCCATCCCTCATTGGAATCACCACCCATTCCATCCAGGACTTCTCTTACACTTGGGGGTAGCGGGGTCAGGACAATCATCTCAGTCCTGCATCTTTTCTTCTGCTTTCTTCCCTCCAAGAGCAAAACCTGGGCAAGGGGACTTACTGAGTGGGGGTGGGTGGGGGTTGGGAAAAGGGAAACTGGTGGGATATGGAACATGGCTCTGAGCAGGACTGTTGAGCTCACATAGTGTTCTGACTCCAAATCTGGGAGCAGGAGAATGTGTAAACAAGAATAAAGTGGAAGCAGGTTGGTGTAGATCTTAGTCTCAGTGTTCCTGGAGTGAGAGAAGAGGTGCAAGGGGCCCAAAGTCAGGTTGCCATTTCAGGCGAACTGCCTGGGAAGGAGGAATGGTGCAGAGTCGGCAATGGTGTGACTTCATTCTACAGGAGGTTGGTTAGCAGTGGACAGTTCTAGCTTGTCTTAGATCAAAACTTAAAGCTGCTTGGGCTCAAGCTGGCATCTGCCTGTGTCAAGAACTAGGGCCCCCTAAAAACACTCAACTAGTTCTTTCCTTCCTTCACTCCTGGGGTGAGTAGCTTAGTCAAAGCTGCCTAGCCGGTTTGCTAGGCAAGGGCCTCTGGGTGGAGACACCTGAGGAAGCTTTGAGACAGGTAGATTACAGGTCTCCCATCCTCAGCCTAGGGGCGAGGGGAGTGGAGGTGGCAGCGGCAGCTGTTTTGGCCTGTGTCTCCCTGATCGTTCAAGCTCATACATGGTTAATGATTAATGAGGCAGTGTGGTGTGGCAGTATCCAGCTGCCACTTCCTGCCTACTCTGCTGAGTAAACAGGGGCCCTGTCTTAGCTGGGCTTCAAACCTGTTCCCTAGGGAAGGGCTCTGTTCCCTGAATCACCAGGGAGGAAAGGCAAGGGCAGGGTTGGCATCTCCTGCTCTTTTGTGATCCAAGCCTCCTCCCCCGAACCATGTCTACCCCACAGTATGACATCAGCATGGGGCCTGGGGCTCCTGTTAGCAAAGTTGAAGCTTTCCCCAGGGCCCTAGCAGGAGTCTCCCACTAGCTAGCACAGAGGCTGAGGCCAGAAAGAAATCACAAACAGAGGGGAGATGACCTGACTTTTAATGGCACAGCCCCAGCTCCAGCAAAGCAGCAAGACAGGAAGCTATGCAAAGCTGCTCAGAGGTGCAGTGGCACAAACAACTCTAGGAGATCGCCTGTGTTCCCTCCCATCCCCCAAGCTTATGACGTGGCTCCATGCCCAGGAACTCTGGGCCAGCCCAGCCCCACTCCCAAACCCTCATAATGCACAGAGGAGCCTGGGCCAAGCCTTGCTTCCAGAGTTGGTAAATGTAGAGGCAGCAGGAAGAACAGGGTAGCAGTCTAACTTTCAAAGACAGAAACCACTGGATTATACTCCTACTTGGAAAGGAGCTGAAGACTCATCCTTCAACAGTTTGTGCCTGGATTTTGGTCCTCATTTCCTCCCTATACTGAGTAACCCTAGGACTTCAATTTAAAGTCCCTGGGGTTATGCTTCCTGGGCCTGGCAAGAACCCCTTTGCAGGTCTCACCTTCAGCGATGGAAGGGATAAGGGTCATGAACAGCAAACAGAGCAGCAGCAGCATGAAGGGGAAGGCAGCAGAAGCTCAAGCACTCAGAGGGAACAAGAAACCGTGCAAGGAAACTGTTTATTTCGAAAGGATTTTGCAATAAACATAGTGAATAGGCTCCAGGCAGCTGCTTTATTCTTCTCCCTCATCCTCGTCCTCATAGGAGTCGATGCCCACCTCCTCATAATCCTTCTCCAGGGCAGCCATATCCTCACGGGCCTCGGAGAACTCACCCTCCTCCATGCCCTCACCCACATACCAGTGCACAAACGCCCTCTTGGCATACATCAGGTCGAACTTGTGGTCCAGGCGGGCCCAGGCCTCGGCGATGGCGGTCGTGTTGCTCAGCATGCACACGGCACGCTGCACCTTGGCCAGGTCACCCCCAGGCACCACAGTGGGAGGCTGGTAGTTGATACCAACCTTGAAGCCTGTGGGGCACCAGTCCACAAACTGAATGCTGCGCTTGGTCTTGATGGCGGCAATGGCAGCGTTGACATCCTTGGGCACCACATCTCCACGGTACAGCAGGCAGCAGGCCATGTACTTGCCGTGCCGGGGATCACACTTTACCATCTGGTTGGCAGGCTCAAAGCAGGCATTGGTGATCTCTGCCACCGACAGCTGCTCGTGGTATGCCTTTTCTGCAGAGATGACTGGTGCATAGGTGGCCAGGGGGAAGTGGATGCGAGGGTAGGGCACCAGGTTGGTCTGGAACTCTGTCAGGTCCACATTGAGGGCCCCGTCAAAGCGCAGAGAAGCTGTGATGGAGGAGACAATTTGGCTAATGAGGCGATTGAGGTTGGTGTAGGTTGGGCGCTCGATGTCTAGGTTGCGGCGGCAGATGTCATAGATTGCTTCGTTGTCCACCATGAAGGCACAGTCTGAGTGCTCCAGGGTGGTGTGGGTGGTCAGGATAGAGTTGTAGGGCTCGACCACGGCTGTAGACACCTGGGGGGCTGGGTAGATGGAGAATTCCAGCTTGGATTTCTTGCCATAGTCAACAGAGAGCCGCTCCATCAGGAGTGAGGTGAAGCCAGAGCCAGTGCCCCCACCAAAGCTGTGGAACACCAGGAAGCCCTGAAGTCCTGTGCACTGGTCAGACTGAAAGGCAAGAACGAGAAAGAACAGTTTAGGTAGGGGAGGGGCCTGAGGGACTCTATCACCTGGCTCCATAAAGCGTAAGATACATCAGCAGTCAGGGCAAATACTGAGGATGCCATAGCAGCACCACACTCGAGACCATGTATAGTTAGAGATGACCTCCTGAAAGGATCTGAAAAAAAATATTCCTGACCATTAGCACAGTCTCAAAAGTTCCCTCCCTCCCAAGACACACTCTCACCAGCTTGCGGATCCGATCCAGCACTGGGTCAATGATCTCCTTGCCAATGGTATAGTGACCACGGGCATAGTTGTTGGCAGCATCCTCTTTCCCAGTGATGAGCTGCTCTGGGTGGAAGAGCTGTCGGTATGGGCCATTTCGGATCTCATCTGGAAGGGCAAAAACCACAAAGCTATGCTCAGCAGGGACCTTCCTCCCCCAGGGTGGTAGCTGTGGCCAGATGCATGGAAGGACTCATCCTCCTGCCAGCCTGAGATACCAGAGTGTGAGAGAAACCCAGACCAGCTGCCCAGGCCAGTCTCAGATCAGCTTGCCTTCTGCAGCTTCAAGTACGGCTAGGAATTTTCAGGGCTAGGAATGCCTGGTCTAAATACCCTCTCTCTCCAGGGAGAAGCTTTGAGTCATGCTCCACCCCCTTCAATTTTGTCCCCACTTCCTCTCACCAATGACCGTAGGCTCCAGATCCACAAAAACTGCCCGGGGTACGTGTTTTCCAGCACCAGTTTCACAGAAGAAGGTGGTGAAGGAGTCGTCCCCTCCACCAATGGTCTTGTCACTGGGCATCTGCCCATCAGGCTGAATCCCATGTTCCAAGCAATAGAGCTCCCAGCAGGCATTGCCCATCTGGACACCTGCCTGCCCCACGTGGACTGAGATGCATTCACGCTGAGGGATAGAGAGAGGGGACACAGCATGAGCCCCACATCCACAAGTCCTCACCTTGCGAGTCTCTCTTCCACCCTATCATCTACCAGCTAGGATGACTCAGTTGGCAAGAGTGGAGGGTTGGGGCTGGGCAGAGGTGAGAAGAGAGTAGCAGCCTGCCCGGGCTCCCAGGTACAGGACTCCCCACCTGGAGGCACCCAGCAATGCAGGCCAACCTCTTAGCCCACTTCTCAGTGGGGAATCTGTCAAGTGAGCACTGTGGCTCCACATGACAAAAGGTTTCCTAGAGGTATGGGTTTACAGCTAGAGGCCCCCCCCCCACTTGATTAATTATTTGCTTTGAGTATGAACAGCTAGAATTCATAGAAC 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GTCAGCTGGAGGCGCTTCAGCCCCCAGCTCCTGGCCAACATACTACCCAAATCTGAAAAAGCAGCATGTTGAGAAGATGGCCCCTTGTGCCTTGGAAAGAGGTTCCCATCCCTCATTGGAATCACCACCCATTCCATCCAGGACTTCTCTTACACTTGGGGGTAGCGGGGTCAGGACAATCATCTCAGTCCTGCATCTTTTCTTCTGCTTTCTTCCCTCCAAGAGCAAAACCTGGGCAAGGGGACTTACTGAGTGGGGGTGGGTGGGGGTTGGGAAAAGGGAAACTGGTGGGATATGGAACATGGCTCTGAGCAGGACTGTTGAGCTCACATAGTGTTCTGACTCCAAATCTGGGAGCAGGAGAATGTGTAAACAAGAATAAAGTGGAAGCAGGTTGGTGTAGATCTTAGTCTCAGTGTTCCTGGAGTGAGAGAAGAGGTGCAAGGGGCCCAAAGTCAGGTTGCCATTTCAGGCGAACTGCCTGGGAAGGAGGAATGGTGCAGAGTCGGCAATGGTGTGACTTCATTCTACAGGAGGTTGGTTAGCAGTGGACAGTTCTAGCTTGTCTTAGATCAAAACTTAAAGCTGCTTGGGCTCAAGCTGGCATCTGCCTGTGTCAAGAACTAGGGCCCCCTAAAAACACTCAACTAGTTCTTTCCTTCCTTCACTCCTGGGGTGAGTAGCTTAGTCAAAGCTGCCTAGCCGGTTTGCTAGGCAAGGGCCTCTGGGTGGAGACACCTGAGGAAGCTTTGAGACAGGTAGATTACAGGTCTCCCATCCTCAGCCTAGGGGCGAGGGGAGTGGAGGTGGCAGCGGCAGCTGTTTTGGCCTGTGTCTCCCTGATCGTTCAAGCTCATACATGGTTAATGATTAATGAGGCAGTGTGGTGTGGCAGTATCCAGCTGCCACTTCCTGCCTACTCTGCTGAGTAAACAGGGGCCCTGTCTTAGCTGGGCTTCAAACCTGTTCCCTAGGGAAGGGCTCTGTTCCCTGAATCACCAGGGAGGAAAGGCAAGGGCAGGGTTGGCATCTCCTGCTCTTTTGTGATCCAAGCCTCCTCCCCCGAACCATGTCTACCCCACAGTATGACATCAGCATGGGGCCTGGGGCTCCTGTTAGCAAAGTTGAAGCTTTCCCCAGGGCCCTAGCAGGAGTCTCCCACTAGCTAGCACAGAGGCTGAGGCCAGAAAGAAATCACAAACAGAGGGGAGATGACCTGACTTTTAATGGCACAGCCCCAGCTCCAGCAAAGCAGCAAGACAGGAAGCTATGCAAAGCTGCTCAGAGGTGCAGTGGCACAAACAACTCTAGGAGATCGCCTGTGTTCCCTCCCATCCCCCAAGCTTATGACGTGGCTCCATGCCCAGGAACTCTGGGCCAGCCCAGCCCCACTCCCAAACCCTCATAATGCACAGAGGAGCCTGGGCCAAGCCTTGCTTCCAGAGTTGGTAAATGTAGAGGCAGCAGGAAGAACAGGGTAGCAGTCTAACTTTCAAAGACAGAAACCACTGGATTATACTCCTACTTGGAAAGGAGCTGAAGACTCATCCTTCAACAGTTTGTGCCTGGATTTTGGTCCTCATTTCCTCCCTATACTGAGTAACCCTAGGACTTCAATTTAAAGTCCCTGGGGTTATGCTTCCTGGGCCTGGCAAGAACCCCTTTGCAGGTCTCACCTTCAGCGATGGAAGGGATAAGGGTCATGAACAGCAAACAGAGCAGCAGCAGCATGAAGGGGAAGGCAGCAGAAGCTCAAGCACTCAGAGGGAACAAGAAACCGTGCAAGGAAACTGTTTATTTCGAAAGGATTTTGCAATAAACATAGTGAATAGGCTCCAGGCAGCTGCTTTATTCTTCTCCCTCATCCTCGTCCTCATAGGAGTCGATGCCCACCTCCTCATAATCCTTCTCCAGGGCAGCCATATCCTCACGGGCCTCGGAGAACTCACCCTCCTCCATGCCCTCACCCACATACCAGTGCACAAACGCCCTCTTGGCATACATCAGGTCGAACTTGTGGTCCAGGCGGGCCCAGGCCTCGGCGATGGTGGTCGTGTTGCTCAGCATGCACACGGCACGCTGCACCTTGGCCAGGTCACCCCCAGGCACCACAGTGGGAGGCTGGTAGTTGATACCAACCTTGAAGCCTGTGGGGCACCAGTCCACAAACTGAATGCTGCGCTTGGTCTTGATGGCGGCAATGGCAGCGTTGACATCCTTGGGCACCACATCTCCACGGTACAGCAGGCAGCAGGCCATGTACTTGCCGTGCCGGGGATCACACTTTACCATCTGGTTGGCAGGCTCAAAGCAGGCATTGGTGATCTCTGCCACCGACAGCTGCTCGTGGTATGCCTTTTCTGCAGAGATGACTGGTGCATAGGTGGCCAGGGGGAAGTGGATGCGAGGGTAGGGCACCAGGTTGGTCTGGAACTCTGTCAGGTCCACATTGAGGGCCCCGTCAAAGCGCAGAGAAGCTGTGATGGAGGAGACAATTTGGCTAATGAGGCGATTGAGGTTGGTGTAGGTTGGGCGCTCGATGTCTAGGTTGCGGCGGCAGATGTCATAGATTGCTTCGTTGTCCACCATGAAGGCACAGTCTGAGTGCTCCAGGGTGGTGTGGGTGGTCAGGATAGAGTTGTAGGGCTCGACCACGGCTGTAGACACCTGGGGGGCTGGGTAGATGGAGAATTCCAGCTTGGATTTCTTGCCATAGTCAACAGAGAGCCGCTCCATCAGGAGTGAGGTGAAGCCAGAGCCAGTGCCCCCACCAAAGCTGTGGAACACCAGGAAGCCCTGAAGTCCTGTGCACTGGTCAGACTGAAAGGCAAGAACGAGAAAGAACAGTTTAGGTAGGGGAGGGGCCTGAGGGACTCTATCACCTGGCTCCATAAAGCGTAAGATACATCAGCAGTCAGGGCAAATACTGAGGATGCCATAGCAGCACCACACTCGAGACCATGTATAGTTAGAGATGACCTCCTGAAAGGATCTGAAAAAAAATATTCCTGACCATTAGCACAGTCTCAAAAGTTCCCTCCCTCCCAAGACACACTCTCACCAGCTTGCGGATCCGATCCAGCACTGGGTCAATGATCTCCTTGCCAATGGTATAGTGACCACGGGCATAGTTGTTGGCAGCATCCTCTTTCCCAGTGATGAGCTGCTCTGGGTGGAAGAGCTGTCGGTATGGGCCATTTCGGATCTCATCTGGAAGGGCAAAAACCACAAAGCTATGCTCAGCAGGGACCTTCCTCCCCCAGGGTGGTAGCTGTGGCCAGATGCATGGAAGGACTCATCCTCCTGCCAGCCTGAGATACCAGAGTGTGAGAGAAACCCAGACCAGCTGCCCAGGCCAGTCTCAGATCAGCTTGCCTTCTGCAGCTTCAAGTACGGCTAGGAATTTTCAGGGCTAGGAATGCCTGGTCTAAATACCCTCTCTCTCCAGGGAGAAGCTTTGAGTCATGCTCCACCCCCTTCAATTTTGTCCCCACTTCCTCTCACCAATGACCGTAGGCTCCAGATCCACAAAAACTGCCCGGGGTACGTGTTTTCCAGCACCAGTTTCACAGAAGAAGGTGGTGAAGGAGTCGTCCCCTCCACCAATGGTCTTGTCACTGGGCATCTGCCCATCAGGCTGAATCCCATGTTCCAAGCAATAGAGCTCCCAGCAGGCATTGCCCATCTGGACACCTGCCTGCCCCACGTGGACTGAGATGCATTCACGCTGAGGGATAGAGAGAGGGGACACAGCATGAGCCCCACATCCACAAGTCCTCACCTTGCGAGTCTCTCTTCCACCCTATCATCTACCAGCTAGGATGACTCAGTTGGCAAGAGTGGAGGGTTGGGGCTGGGCAGAGGTGAGAAGAGAGTAGCAGCCTGCCCGGGCTCCCAGGTACAGGACTCCCCACCTGGAGGCACCCAGCAATGCAGGCCAACCTCTTAGCCCACTTCTCAGTGGGGAATCTGTCAAGTGAGCACTGTGGCTCCACATGACAAAAGGTTTCCTAGAGGTATGGGTTTACAGCTAGAGGCCCCCCCCCCACTTGATTAATTATTTGCTTTGAGTATGAACAGCTAGAATTCATAGAAC 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