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_48100 | Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Benign | CCCGCTTTAAGCTGTGGGTTAAGACAGAAGCCATGTCCCTGGGGGCTCTGGCTGGGGCTGAGGAGGCAGCCCCCTGCCACCACCAACCGAGGCTGGAGCGATGTAGCTTTGGGCCGCAAGAAACACCACCGCATCCTTCAGGGGATGGTACCCTCCGCCGTACCATGTATAACGCCCAGGGCAGGGCGCATGGGCAGGGACCGGCAGGCTGGGTTTTGGCTTCCCCCGTCCCGTGGGTGGGCACCCATGGCAGCTCCCACCTGTGCCTGGTGGGTGGAGCCACAGAGGACAGGCTCTGCTCTCGGTGGGGGGCAGTGGTC... | CCCGCTTTAAGCTGTGGGTTAAGACAGAAGCCATGTCCCTGGGGGCTCTGGCTGGGGCTGAGGAGGCAGCCCCCTGCCACCACCAACCGAGGCTGGAGCGATGTAGCTTTGGGCCGCAAGAAACACCACCGCATCCTTCAGGGGATGGTACCCTCCGCCGTACCATGTATAACGCCCAGGGCAGGGCGCATGGGCAGGGACCGGCAGGCTGGGTTTTGGCTTCCCCCGTCCCGTGGGTGGGCACCCATGGCAGCTCCCACCTGTGCCTGGTGGGTGGAGCCACAGAGGACAGGCTCTGCTCTCGGTGGGGGGCAGTGGTC... |
Task1_train_48101 | A mutation has occurred on Chromosome 20. What is the medical relevance of this mutation? | Benign | GTCGCCACGCTCTGCCTCCCTCCACTCAAGTGGGCTCCACTCCACGCCAGGCCTGGTGCACACAGGGGTGCATGAACTCTGTGGAAGGAGGGCCTATGACAGCACCCAGTCTGCCTGGTGTCACCATCCGGTTCTGGACACTCAACATGCAGGACTGAGGGAGAAAGCTGTTTCCATGTCAAACAACAGGGCCCGGGGTTAGGGAAAAGCCCACCACACCTGCGGAGCTCGGCCCGTTGGGGTGAGCCCGCTTCCCCTGGAGTCCACACCTTAGGGCCTTGCCGCTCTGCCCTGGAGAGTCACCACCTTGTTCCATCTCT... | GTCGCCACGCTCTGCCTCCCTCCACTCAAGTGGGCTCCACTCCACGCCAGGCCTGGTGCACACAGGGGTGCATGAACTCTGTGGAAGGAGGGCCTATGACAGCACCCAGTCTGCCTGGTGTCACCATCCGGTTCTGGACACTCAACATGCAGGACTGAGGGAGAAAGCTGTTTCCATGTCAAACAACAGGGCCCGGGGTTAGGGAAAAGCCCACCACACCTGCGGAGCTCGGCCCGTTGGGGTGAGCCCGCTTCCCCTGGAGTCCACACCTTAGGGCCTTGCCGCTCTGCCCTGGAGAGTCACCACCTTGTTCCATCTCT... |
Task1_train_48102 | This genomic variant is located on Chromosome 20. Can you determine its pathogenicity and name any linked disease? | Benign | CCCCTAGCCAGTTCTTCTTTGCTGGCGCTAAGCTAGACTTTGAGGGACAAGGAGGAATGCTGAGGAAGGAACGGGGTCTCTTCCTGGGTCTGGTGAACCCCCTTGCTAGGCTCCCGCTGCCAGTCTTCTCCCCTCCCCAGGGTGTCGATGGGTGGCCAAAAGCCAACCTGGCCTGCGGGCAGTGTGTAGGGAACACACGGCTTTTGTTTCGTGTGATTCTGGAGAAATTAAAGCAACCTTTAACACACCTGGACTTCCCTCTTGGGAGTTCAGTCCCTCTGGCCTCTCAGGACAACAGGCAGACATGTCACAGGCTGCAG... | CCCCTAGCCAGTTCTTCTTTGCTGGCGCTAAGCTAGACTTTGAGGGACAAGGAGGAATGCTGAGGAAGGAACGGGGTCTCTTCCTGGGTCTGGTGAACCCCCTTGCTAGGCTCCCGCTGCCAGTCTTCTCCCCTCCCCAGGGTGTCGATGGGTGGCCAAAAGCCAACCTGGCCTGCGGGCAGTGTGTAGGGAACACACGGCTTTTGTTTCGTGTGATTCTGGAGAAATTAAAGCAACCTTTAACACACCTGGACTTCCCTCTTGGGAGTTCAGTCCCTCTGGCCTCTCAGGACAACAGGCAGACATGTCACAGGCTGCAG... |
Task1_train_48103 | A genomic variant on Chromosome 20 is under review. What is the biological outcome — benign or pathogenic? | Benign | GCCAGGATGTGCCCGTCACCGGCTCTTCGGGGTTGCCTGCTGGTTGGGTGGTGTGCCCTCTCCAGGCTGTGGTGAGCAGGCAGAGAGCTGCCCTGGGCTCACTGTGGGTTCAGCTGAGGCTGGCTAGGTCTTCTCCCAGGGTTCTGTGCAGGGCTGCCTGCTGGTTGGATGGTGTGCCCTCTCCAGGCCCTGGTGGGCAGGTGGAGGGCTGCCCCGGGCTCGCTGTGGACCCTGGTGCAGGCTGGCTAGGTCTCCTCCCAGGGGCTGCTGTTGGGGGAGGGACTGTGGTCCTCGGCGTCCCTTGGGCTCCCGGGCCCCTC... | GCCAGGATGTGCCCGTCACCGGCTCTTCGGGGTTGCCTGCTGGTTGGGTGGTGTGCCCTCTCCAGGCTGTGGTGAGCAGGCAGAGAGCTGCCCTGGGCTCACTGTGGGTTCAGCTGAGGCTGGCTAGGTCTTCTCCCAGGGTTCTGTGCAGGGCTGCCTGCTGGTTGGATGGTGTGCCCTCTCCAGGCCCTGGTGGGCAGGTGGAGGGCTGCCCCGGGCTCGCTGTGGACCCTGGTGCAGGCTGGCTAGGTCTCCTCCCAGGGGCTGCTGTTGGGGGAGGGACTGTGGTCCTCGGCGTCCCTTGGGCTCCCGGGCCCCTC... |
Task1_train_48104 | A mutation located on Chromosome 20 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Benign | TACTGGGAGGAGCTGGGTCCAAGGACACTGCCCTTGGCAAACACTGGAGCCGTCCGCAATTCCCCAGGGGAGCAAACGTGCCCCCATGCCCCTCGGGGCTGTGCCTTCTGCGCTGACCCTGTCTGCAGGTGGACAAGGGGCCCTGGGGATCTGCTCCTTGTGGCAGCGGCTTATCCTGTGCACCAGGACACCCTTCCTTCCAGGATGATGGTGGGGACAATGACCATCCCCTGGCTCCTTCTCTCACCGAAATCTCCTACGATCCCTAATGTCAGCCCCCTTACAGGCGAGGAGACTGAGGCTCAGATTTGGAAGGACCT... | TACTGGGAGGAGCTGGGTCCAAGGACACTGCCCTTGGCAAACACTGGAGCCGTCCGCAATTCCCCAGGGGAGCAAACGTGCCCCCATGCCCCTCGGGGCTGTGCCTTCTGCGCTGACCCTGTCTGCAGGTGGACAAGGGGCCCTGGGGATCTGCTCCTTGTGGCAGCGGCTTATCCTGTGCACCAGGACACCCTTCCTTCCAGGATGATGGTGGGGACAATGACCATCCCCTGGCTCCTTCTCTCACCGAAATCTCCTACGATCCCTAATGTCAGCCCCCTTACAGGCGAGGAGACTGAGGCTCAGATTTGGAAGGACCT... |
Task1_train_48105 | Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Benign | CACCAGGACACCCTTCCTTCCAGGATGATGGTGGGGACAATGACCATCCCCTGGCTCCTTCTCTCACCGAAATCTCCTACGATCCCTAATGTCAGCCCCCTTACAGGCGAGGAGACTGAGGCTCAGATTTGGAAGGACCTGACACCAACCTACACAGTCAGAGGCTGCACAGGAAGGACTCACTCCGGCCACCCTCGCCCTCCTCTGTGGGGTTCATTTGGGGAGGGTTGAGGTTCATTTTTGGCTCCATCATTCTGAGGCTGCCATTCTCCAGGCAGCCAGGAGGAGAGGTGGCACTGGGGAGAGGTGGGTGCTGTGGC... | CACCAGGACACCCTTCCTTCCAGGATGATGGTGGGGACAATGACCATCCCCTGGCTCCTTCTCTCACCGAAATCTCCTACGATCCCTAATGTCAGCCCCCTTACAGGCGAGGAGACTGAGGCTCAGATTTGGAAGGACCTGACACCAACCTACACAGTCAGAGGCTGCACAGGAAGGACTCACTCCGGCCACCCTCGCCCTCCTCTGTGGGGTTCATTTGGGGAGGGTTGAGGTTCATTTTTGGCTCCATCATTCTGAGGCTGCCATTCTCCAGGCAGCCAGGAGGAGAGGTGGCACTGGGGAGAGGTGGGTGCTGTGGC... |
Task1_train_48106 | This mutation is located on Chromosome 20. Is it associated with a disease or is it a benign polymorphism? | Benign | ACCCAGGCTGTTTTTGGGACACTCCCTACCCCCTACCCCAGGGGCTCTGGTGTCACCTGGGTGGATTGCAAGAGGTCCCCTCGGGGGAGCACTGCGCCCAGGCGCCCCTCTGCCCAGCCCGAACTCACCAGGCGCTTCTGAGGCCGAACGAGCGGCCGGTTGACGCCATTCATCTTGTGGTAGAGGCCGCAGGCATTGCACAGGTAGTGGCCGGTGCCGTCTCGGCGCCACAGCGGTGTGGACAGGGCCCCGCAGTTGACACACTCACGACCCTCACCCGGGAACTCCTCCAAGAAGTCGGACACTGAGGGGACAGGCAG... | ACCCAGGCTGTTTTTGGGACACTCCCTACCCCCTACCCCAGGGGCTCTGGTGTCACCTGGGTGGATTGCAAGAGGTCCCCTCGGGGGAGCACTGCGCCCAGGCGCCCCTCTGCCCAGCCCGAACTCACCAGGCGCTTCTGAGGCCGAACGAGCGGCCGGTTGACGCCATTCATCTTGTGGTAGAGGCCGCAGGCATTGCACAGGTAGTGGCCGGTGCCGTCTCGGCGCCACAGCGGTGTGGACAGGGCCCCGCAGTTGACACACTCACGACCCTCACCCGGGAACTCCTCCAAGAAGTCGGACACTGAGGGGACAGGCAG... |
Task1_train_48107 | Located on Chromosome 20, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | ATGGAGTATTTTTCCTGCCTTTTCTATTCAAACGGTACTTTAGAATAACCCAAGAGTAGATAAAAGGCAGTGTCTCAGCCCAGAAATGTTCATCAATAAGTGAAGAAGGAGCAGGATGGTCAGAATACCACCCATCAGGTGCAATCCTCATAAATCAATGGATGTAGGCATGGATTCTTGACAGCTGCTGGGGTCACGAAGGGGAGAGAGTTAGGTGTGAGGTGAGCCCTGGTGTGCACACAGCCTCGTGGCATCCTTGGAGCAAAGCCATTGAATCTGAATCTCATGGAGCCCCTGATCCAACACACAGGACACACCAG... | ATGGAGTATTTTTCCTGCCTTTTCTATTCAAACGGTACTTTAGAATAACCCAAGAGTAGATAAAAGGCAGTGTCTCAGCCCAGAAATGTTCATCAATAAGTGAAGAAGGAGCAGGATGGTCAGAATACCACCCATCAGGTGCAATCCTCATAAATCAATGGATGTAGGCATGGATTCTTGACAGCTGCTGGGGTCACGAAGGGGAGAGAGTTAGGTGTGAGGTGAGCCCTGGTGTGCACACAGCCTCGTGGCATCCTTGGAGCAAAGCCATTGAATCTGAATCTCATGGAGCCCCTGATCCAACACACAGGACACACCAG... |
Task1_train_48108 | This variant is present on Chromosome 20. Is the change likely to result in a pathogenic outcome? | Benign | CCACCCATCAGGTGCAATCCTCATAAATCAATGGATGTAGGCATGGATTCTTGACAGCTGCTGGGGTCACGAAGGGGAGAGAGTTAGGTGTGAGGTGAGCCCTGGTGTGCACACAGCCTCGTGGCATCCTTGGAGCAAAGCCATTGAATCTGAATCTCATGGAGCCCCTGATCCAACACACAGGACACACCAGGGACAGAGGAACAGGGACAAATGTACCATTAGGATGCAGCCAGCAAAACCCAGACCACAAGAAACAGCTCCAAATAAACAACTCGTTCTGTTCTACAAACAGTGAGGGAATCGGAGACGGTGGCCTG... | CCACCCATCAGGTGCAATCCTCATAAATCAATGGATGTAGGCATGGATTCTTGACAGCTGCTGGGGTCACGAAGGGGAGAGAGTTAGGTGTGAGGTGAGCCCTGGTGTGCACACAGCCTCGTGGCATCCTTGGAGCAAAGCCATTGAATCTGAATCTCATGGAGCCCCTGATCCAACACACAGGACACACCAGGGACAGAGGAACAGGGACAAATGTACCATTAGGATGCAGCCAGCAAAACCCAGACCACAAGAAACAGCTCCAAATAAACAACTCGTTCTGTTCTACAAACAGTGAGGGAATCGGAGACGGTGGCCTG... |
Task1_train_48109 | A genetic alteration is present on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Benign | CCCATCAGGTGCAATCCTCATAAATCAATGGATGTAGGCATGGATTCTTGACAGCTGCTGGGGTCACGAAGGGGAGAGAGTTAGGTGTGAGGTGAGCCCTGGTGTGCACACAGCCTCGTGGCATCCTTGGAGCAAAGCCATTGAATCTGAATCTCATGGAGCCCCTGATCCAACACACAGGACACACCAGGGACAGAGGAACAGGGACAAATGTACCATTAGGATGCAGCCAGCAAAACCCAGACCACAAGAAACAGCTCCAAATAAACAACTCGTTCTGTTCTACAAACAGTGAGGGAATCGGAGACGGTGGCCTGGTT... | CCCATCAGGTGCAATCCTCATAAATCAATGGATGTAGGCATGGATTCTTGACAGCTGCTGGGGTCACGAAGGGGAGAGAGTTAGGTGTGAGGTGAGCCCTGGTGTGCACACAGCCTCGTGGCATCCTTGGAGCAAAGCCATTGAATCTGAATCTCATGGAGCCCCTGATCCAACACACAGGACACACCAGGGACAGAGGAACAGGGACAAATGTACCATTAGGATGCAGCCAGCAAAACCCAGACCACAAGAAACAGCTCCAAATAAACAACTCGTTCTGTTCTACAAACAGTGAGGGAATCGGAGACGGTGGCCTGGTT... |
Task1_train_48110 | A variant on Chromosome 20 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Benign | CTCATAAATCAATGGATGTAGGCATGGATTCTTGACAGCTGCTGGGGTCACGAAGGGGAGAGAGTTAGGTGTGAGGTGAGCCCTGGTGTGCACACAGCCTCGTGGCATCCTTGGAGCAAAGCCATTGAATCTGAATCTCATGGAGCCCCTGATCCAACACACAGGACACACCAGGGACAGAGGAACAGGGACAAATGTACCATTAGGATGCAGCCAGCAAAACCCAGACCACAAGAAACAGCTCCAAATAAACAACTCGTTCTGTTCTACAAACAGTGAGGGAATCGGAGACGGTGGCCTGGTTTCTTAGCAAAGACTCG... | CTCATAAATCAATGGATGTAGGCATGGATTCTTGACAGCTGCTGGGGTCACGAAGGGGAGAGAGTTAGGTGTGAGGTGAGCCCTGGTGTGCACACAGCCTCGTGGCATCCTTGGAGCAAAGCCATTGAATCTGAATCTCATGGAGCCCCTGATCCAACACACAGGACACACCAGGGACAGAGGAACAGGGACAAATGTACCATTAGGATGCAGCCAGCAAAACCCAGACCACAAGAAACAGCTCCAAATAAACAACTCGTTCTGTTCTACAAACAGTGAGGGAATCGGAGACGGTGGCCTGGTTTCTTAGCAAAGACTCG... |
Task1_train_48111 | Here’s a variant located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing? | Benign | CGCCTGTACCCTGCAGGGGCCCCTTGTGGCTCTCATCCAGCCAGCTCCTCCCCACCAGGGGGACTCGGGGTACAGCCACCCTCTAGGTGATGCGTCAGCATCCCCCTAACCCCCGTGTGTCTAGGGCCCACAGGCCATTTTCACAGGGATGGCATGAGTCCTCCCCTGGGCCCAGAGAGGTAAATGGAGAGAGAGACTGAATCGTGGGCCAGGGTGGGGAGACCTCGTGGAGCCGGGTGGGAGGGCAGGCCAGGGCGGGGTGCGGCCCAGCAGGAGGGGCCCCAGCCATTGACCTCTCCTGACCCGGATCTCTCGCAGGC... | CGCCTGTACCCTGCAGGGGCCCCTTGTGGCTCTCATCCAGCCAGCTCCTCCCCACCAGGGGGACTCGGGGTACAGCCACCCTCTAGGTGATGCGTCAGCATCCCCCTAACCCCCGTGTGTCTAGGGCCCACAGGCCATTTTCACAGGGATGGCATGAGTCCTCCCCTGGGCCCAGAGAGGTAAATGGAGAGAGAGACTGAATCGTGGGCCAGGGTGGGGAGACCTCGTGGAGCCGGGTGGGAGGGCAGGCCAGGGCGGGGTGCGGCCCAGCAGGAGGGGCCCCAGCCATTGACCTCTCCTGACCCGGATCTCTCGCAGGC... |
Task1_train_48112 | A variant has been detected on Chromosome 20. What is its effect — pathogenic or benign? If pathogenic, name the disease. | Benign | GAGGCTCTGCCCCACTCAAAAGTGAGCCGGGGGAGGCTGAGCTCTGACAGTGCCCACCCTCTGCCTAGGATCTGCCTGGAGCTGGGGGTGGTTTTTTGAGGGGCTTGAAGGTGGTTCGGGGGGGACACCAAGCAGGTGTCCCAGGCATGAGGTGGCTCCCCTGGCCTGAGGTGAAGGCCAGCTGTGTTTTGTCTGATTTGGGTCAGATAGCAGTCCTTGCTGACTGCATGCTGGGCATCATGGGGATAGGCAAAGTGGGGTGTGGGGCCAGGGACCAGGGGAGAGCCACTGAGGAGGGGGCTGGCCACAGGGTCATCTTG... | GAGGCTCTGCCCCACTCAAAAGTGAGCCGGGGGAGGCTGAGCTCTGACAGTGCCCACCCTCTGCCTAGGATCTGCCTGGAGCTGGGGGTGGTTTTTTGAGGGGCTTGAAGGTGGTTCGGGGGGGACACCAAGCAGGTGTCCCAGGCATGAGGTGGCTCCCCTGGCCTGAGGTGAAGGCCAGCTGTGTTTTGTCTGATTTGGGTCAGATAGCAGTCCTTGCTGACTGCATGCTGGGCATCATGGGGATAGGCAAAGTGGGGTGTGGGGCCAGGGACCAGGGGAGAGCCACTGAGGAGGGGGCTGGCCACAGGGTCATCTTG... |
Task1_train_48113 | A variant was discovered on Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Benign | GGTGCCTGGCCCCGAGTCTGGCCTGACAAATTGGGTCCAGGGTATGCCTGAGTTCTGAGACCCCCTAAACTGCCCTGGGAGGTAGCCCTGCCTTTGTCCCCAGCAACCCAGCCAGGTGGCTTAGAACCGGCTCCTGTGTCCACCCACTCTGGGGGAAGGCTGAGCCAGGCTCCCTGGGGCCTCTTGGGGACTCCTCGAACCCTGAGACATCCGCTCACACCTCACCTTTGTCTTCCAGGGGGCCCTCGGCCCACAAGGCCCTCCCGGAGCCCCTGGTGTCCGAGGCTTCCAGGTGGGTGAGGTTGGGGCAAGGGCCTGGC... | GGTGCCTGGCCCCGAGTCTGGCCTGACAAATTGGGTCCAGGGTATGCCTGAGTTCTGAGACCCCCTAAACTGCCCTGGGAGGTAGCCCTGCCTTTGTCCCCAGCAACCCAGCCAGGTGGCTTAGAACCGGCTCCTGTGTCCACCCACTCTGGGGGAAGGCTGAGCCAGGCTCCCTGGGGCCTCTTGGGGACTCCTCGAACCCTGAGACATCCGCTCACACCTCACCTTTGTCTTCCAGGGGGCCCTCGGCCCACAAGGCCCTCCCGGAGCCCCTGGTGTCCGAGGCTTCCAGGTGGGTGAGGTTGGGGCAAGGGCCTGGC... |
Task1_train_48114 | A change on Chromosome 20 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Benign | CTTCTCCCGTAGCCGCAGGGTGGACGCCTGCAGGTCACGCCCACACCGGCCTCCGGGGCGGCGGCTAAGACCTGTAAAAGCAGCTTTTGGAAACACAAACGGATGAGATGTCAGTGAAGGTATGGCTCTAGGGTCCAACGAAACTCCCTTAAAATTTACAATAAAGTTATTGGAAAAGATAACTATGATCTGAAAAGCAATATGCTCCGTAGGCAATTTCCCATTTCTTTTAATTTTAAATGGAAATATTAAAGTTTAGTTTTTTTAAAAAAGCATCAGAATTGTAAAGATGTGAAATCTTGTAAGAAACCATTTACACA... | CTTCTCCCGTAGCCGCAGGGTGGACGCCTGCAGGTCACGCCCACACCGGCCTCCGGGGCGGCGGCTAAGACCTGTAAAAGCAGCTTTTGGAAACACAAACGGATGAGATGTCAGTGAAGGTATGGCTCTAGGGTCCAACGAAACTCCCTTAAAATTTACAATAAAGTTATTGGAAAAGATAACTATGATCTGAAAAGCAATATGCTCCGTAGGCAATTTCCCATTTCTTTTAATTTTAAATGGAAATATTAAAGTTTAGTTTTTTTAAAAAAGCATCAGAATTGTAAAGATGTGAAATCTTGTAAGAAACCATTTACACA... |
Task1_train_48115 | A sequence alteration has been identified on Chromosome 20. Is it disease-inducing or harmless? | Benign | GTCTTCTTGCTTTCATTGTGCAGTTTAGTTCTGGACTCCATCACCTGAAATGAAAAAGACGAAACAGAGCTTAGGCCTTGTTTTCTAGGAGGAAAGCATCGCTTATGCAGCCGTCTATGAATTTATTTCTATTAAGCTCGAGTCCTGGGTGCCTCCGCAGGTACCCCTCAGCACTCACAGATCTCGCTGGCCTCTCTTTCCACGTGGAAAGCTCTTTAGATACAAGTTCTTCTGGCTTCAGTCTCACAAGTTTCGCCAAAGAGATTTCCTCACGCAGAACACGATGGAAGAGTCCCTATAAACAAGTATTTTTCATTTAC... | GTCTTCTTGCTTTCATTGTGCAGTTTAGTTCTGGACTCCATCACCTGAAATGAAAAAGACGAAACAGAGCTTAGGCCTTGTTTTCTAGGAGGAAAGCATCGCTTATGCAGCCGTCTATGAATTTATTTCTATTAAGCTCGAGTCCTGGGTGCCTCCGCAGGTACCCCTCAGCACTCACAGATCTCGCTGGCCTCTCTTTCCACGTGGAAAGCTCTTTAGATACAAGTTCTTCTGGCTTCAGTCTCACAAGTTTCGCCAAAGAGATTTCCTCACGCAGAACACGATGGAAGAGTCCCTATAAACAAGTATTTTTCATTTAC... |
Task1_train_48116 | A genetic alteration is present on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Benign | CTCCATCACCTGAAATGAAAAAGACGAAACAGAGCTTAGGCCTTGTTTTCTAGGAGGAAAGCATCGCTTATGCAGCCGTCTATGAATTTATTTCTATTAAGCTCGAGTCCTGGGTGCCTCCGCAGGTACCCCTCAGCACTCACAGATCTCGCTGGCCTCTCTTTCCACGTGGAAAGCTCTTTAGATACAAGTTCTTCTGGCTTCAGTCTCACAAGTTTCGCCAAAGAGATTTCCTCACGCAGAACACGATGGAAGAGTCCCTATAAACAAGTATTTTTCATTTACTCAAATAATATTCCTATATCTGTCAATACAGAGAG... | CTCCATCACCTGAAATGAAAAAGACGAAACAGAGCTTAGGCCTTGTTTTCTAGGAGGAAAGCATCGCTTATGCAGCCGTCTATGAATTTATTTCTATTAAGCTCGAGTCCTGGGTGCCTCCGCAGGTACCCCTCAGCACTCACAGATCTCGCTGGCCTCTCTTTCCACGTGGAAAGCTCTTTAGATACAAGTTCTTCTGGCTTCAGTCTCACAAGTTTCGCCAAAGAGATTTCCTCACGCAGAACACGATGGAAGAGTCCCTATAAACAAGTATTTTTCATTTACTCAAATAATATTCCTATATCTGTCAATACAGAGAG... |
Task1_train_48117 | A mutation found on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Benign | CAGGCTCCCCAGTACTTGTTGAGCCTACAAAAGTGCAGAGGTGTTTAGGGGAGAGGCAGAGACATGGTAGCTGCTGTCACCAATGTCTCTAACTCTGCTCCAATCAATCACCTTTTGGGAAGACAACATTTACGGGATAACAAAACGAGCAGAAGCTACTAGCTCAAAAGTGTGTCGTCCCCATTCCCATCCTATACAAATTCTGGAAATCCACCAATTTTAACTTGAGGTGATGTGTTGGGAAGGTTAACAGGCAATTTCCCCCACCTCCTGTCCCTGGAGCAAATCAGCTTCCCAGAGGAGCTGATGTGTGGCAAAGA... | CAGGCTCCCCAGTACTTGTTGAGCCTACAAAAGTGCAGAGGTGTTTAGGGGAGAGGCAGAGACATGGTAGCTGCTGTCACCAATGTCTCTAACTCTGCTCCAATCAATCACCTTTTGGGAAGACAACATTTACGGGATAACAAAACGAGCAGAAGCTACTAGCTCAAAAGTGTGTCGTCCCCATTCCCATCCTATACAAATTCTGGAAATCCACCAATTTTAACTTGAGGTGATGTGTTGGGAAGGTTAACAGGCAATTTCCCCCACCTCCTGTCCCTGGAGCAAATCAGCTTCCCAGAGGAGCTGATGTGTGGCAAAGA... |
Task1_train_48118 | Here is a variant on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Benign | CCCTGTCCTAGGCCTGGACACCTGCAGAGCCTGGGACCACGTGGATGGGCAGATCCTGGGCCAGCTGCGGCCCCTGACAGAGGAGGAAGAGGAGGAGGGCGCCGGGGCCACCTTGTCCAGGGGGCCTGCCTTCCCCGGCATGGGCTCTGAGGAGTTGCGTCTGGCCTCCTTCTATGACTGGCCGCTGACTGCTGAGGTGCCACCCGAGCTGCTGGCTGCTGCCGGCTTCTTCCACACAGGTCAGTCCCGGGCGGGGGGGCCTTCCTGCCGTGGGCCTGGGCACGATTCTGGACCCTTCCAGCCCAGGGCTCTGCCTCCTC... | CCCTGTCCTAGGCCTGGACACCTGCAGAGCCTGGGACCACGTGGATGGGCAGATCCTGGGCCAGCTGCGGCCCCTGACAGAGGAGGAAGAGGAGGAGGGCGCCGGGGCCACCTTGTCCAGGGGGCCTGCCTTCCCCGGCATGGGCTCTGAGGAGTTGCGTCTGGCCTCCTTCTATGACTGGCCGCTGACTGCTGAGGTGCCACCCGAGCTGCTGGCTGCTGCCGGCTTCTTCCACACAGGTCAGTCCCGGGCGGGGGGGCCTTCCTGCCGTGGGCCTGGGCACGATTCTGGACCCTTCCAGCCCAGGGCTCTGCCTCCTC... |
Task1_train_48119 | This mutation occurs on Chromosome 20. Does this change lead to a known medical condition, or is it benign? | Benign | CTCCTGAACCCATGCAGGCCCTTCCCGGGTGGCAGCGTCAGCTTGTTTTTACCCGGCTCCCAGGTCCCGCTGATAGCGCCCATCAATCTTACTACCTCCCTTGACGCTTAGGTTGGGGCCTGGTCCTTCGGGCACCGTGCCCTGGCGGCCACCATAGCTCTGCCTGCCTGCATTAACTGACGCCTGCTGGCTCCTCTCAGCCTTGATTTTCCTCAGTGGTCAAGGAAAGCCGGCTTTGGAGGCGTTTGGGGAAACAGGGTGGGCCAGGTTGGGCTTACACAAGCGAGACACTGGCCTGGCTTCAACCCGGGGCCAAGGCA... | CTCCTGAACCCATGCAGGCCCTTCCCGGGTGGCAGCGTCAGCTTGTTTTTACCCGGCTCCCAGGTCCCGCTGATAGCGCCCATCAATCTTACTACCTCCCTTGACGCTTAGGTTGGGGCCTGGTCCTTCGGGCACCGTGCCCTGGCGGCCACCATAGCTCTGCCTGCCTGCATTAACTGACGCCTGCTGGCTCCTCTCAGCCTTGATTTTCCTCAGTGGTCAAGGAAAGCCGGCTTTGGAGGCGTTTGGGGAAACAGGGTGGGCCAGGTTGGGCTTACACAAGCGAGACACTGGCCTGGCTTCAACCCGGGGCCAAGGCA... |
Task1_train_48120 | Here is a variant on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Benign | ACCCCCAGAGCCTGGCCTTGTCAGACGACTCTCTTGCCACCACCATTTCCATCCCCAGCACAGCTGGGCAGAGGCCAACCAAGCCGCCAGCCTCTCCCAGACCCTCCAAAGCAAACAGCAGGGGCGAGATCCTAGCGAGGACTAGCTGGCTGGAATTTAGAAACTACATCCTATCAAAGAAATTCCCATCCCTGGGAGTCAGGATAAAAGCCAACAGGAGGCCCCATCTCCCCAACCATGCAGAGTGCCCACTCCTCCAGCCTCGGCTCCCATAGCACGCCAGCCCCCTCCGAGAGACTCTTCATTCATTCCCCTCAAGC... | ACCCCCAGAGCCTGGCCTTGTCAGACGACTCTCTTGCCACCACCATTTCCATCCCCAGCACAGCTGGGCAGAGGCCAACCAAGCCGCCAGCCTCTCCCAGACCCTCCAAAGCAAACAGCAGGGGCGAGATCCTAGCGAGGACTAGCTGGCTGGAATTTAGAAACTACATCCTATCAAAGAAATTCCCATCCCTGGGAGTCAGGATAAAAGCCAACAGGAGGCCCCATCTCCCCAACCATGCAGAGTGCCCACTCCTCCAGCCTCGGCTCCCATAGCACGCCAGCCCCCTCCGAGAGACTCTTCATTCATTCCCCTCAAGC... |
Task1_train_48121 | A variant found on Chromosome 20 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Benign | GACCGAGCACCCTCCACACACCCGCCTCAGCTTTTGCCTCTTTCTGAGCACTTCGAGGAAGGCACTGACACCATCTGCATTTTACAGAGGCGGGAGCTGAGGCACACGGAGGTTGTTAGGCTCACAGAGGCGGCACAGCGGGGAAGTGGCCGTGTGGCCATACCAGGAGCAGCATCGTAGCCCCTGTTCTCTACCAACCCGTGCAGGGCCGGAGAGGACGGCAGAGTCCCGTTCCCGCACAAGCAACAGCTGCTCCTCAGCGCCACCCGGGGCCACAGAATCCCTGTCCGGTCAGACCTGGGTCACGTGGCGCCAGCCTT... | GACCGAGCACCCTCCACACACCCGCCTCAGCTTTTGCCTCTTTCTGAGCACTTCGAGGAAGGCACTGACACCATCTGCATTTTACAGAGGCGGGAGCTGAGGCACACGGAGGTTGTTAGGCTCACAGAGGCGGCACAGCGGGGAAGTGGCCGTGTGGCCATACCAGGAGCAGCATCGTAGCCCCTGTTCTCTACCAACCCGTGCAGGGCCGGAGAGGACGGCAGAGTCCCGTTCCCGCACAAGCAACAGCTGCTCCTCAGCGCCACCCGGGGCCACAGAATCCCTGTCCGGTCAGACCTGGGTCACGTGGCGCCAGCCTT... |
Task1_train_48122 | This is a variant located on Chromosome 20. Is this mutation a likely cause of disease or not? | Benign | GGCTCCATTCATATTGAGAGGTGGATGAGCCTCAGACAACGCACTGAGGCATGGGCTGGCAGGGATCCAGGTCTGCTGCCTCCAGGCTGGACTATCTTCTACAGTTTGCTCGGTGGCGTGGTGTGCAGGGCCACTGGGTCATTCCCCCTTGACGCTGGGGTTGGTACCACCCCTTCCTCCGGCTTTGAATCTTAACTATATCAATTTTCCTGGTCCTGAATTAGATGGGCCACCAGTTGAAGTTGTACTTTGCTGAAGCTAGGAGAGCTGCAGAGACATCCATAGGTTTTCTCTTCACCCTAAACCTTGTTGCTGCTGTC... | GGCTCCATTCATATTGAGAGGTGGATGAGCCTCAGACAACGCACTGAGGCATGGGCTGGCAGGGATCCAGGTCTGCTGCCTCCAGGCTGGACTATCTTCTACAGTTTGCTCGGTGGCGTGGTGTGCAGGGCCACTGGGTCATTCCCCCTTGACGCTGGGGTTGGTACCACCCCTTCCTCCGGCTTTGAATCTTAACTATATCAATTTTCCTGGTCCTGAATTAGATGGGCCACCAGTTGAAGTTGTACTTTGCTGAAGCTAGGAGAGCTGCAGAGACATCCATAGGTTTTCTCTTCACCCTAAACCTTGTTGCTGCTGTC... |
Task1_train_48123 | Here is a genetic alteration on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Benign | GGCTCTCCTTTAAGATCCAGGATCTGCATCAGGCTTGGCTGTGTGTGCCTGTCACCCCTGCGCAGTACCACTGCGCTCCCCCCGGGCAAAAAAATGAGACCCCCATCTCCAAAACACACAGACCCCCAACGCAGGCCTGCTGCCGGGGAGGTGCTGGAGGGAGGGCGGGGGCACTGGGCGCAGAGCTGCTGAGCAGGGTTTCCTGGCCACCTGCGCTCCCTTGAACGCAGTGCAAAGGGGAGGATCTTTGCTCTGTGACGAGTTCTTCCCTTTCCGGCCTTTGATCCGTGCTGCTCCCTGCCTTTGGGGGAAGAGGAGGC... | GGCTCTCCTTTAAGATCCAGGATCTGCATCAGGCTTGGCTGTGTGTGCCTGTCACCCCTGCGCAGTACCACTGCGCTCCCCCCGGGCAAAAAAATGAGACCCCCATCTCCAAAACACACAGACCCCCAACGCAGGCCTGCTGCCGGGGAGGTGCTGGAGGGAGGGCGGGGGCACTGGGCGCAGAGCTGCTGAGCAGGGTTTCCTGGCCACCTGCGCTCCCTTGAACGCAGTGCAAAGGGGAGGATCTTTGCTCTGTGACGAGTTCTTCCCTTTCCGGCCTTTGATCCGTGCTGCTCCCTGCCTTTGGGGGAAGAGGAGGC... |
Task1_train_48124 | This variant is present on Chromosome 20. Is the change likely to result in a pathogenic outcome? | Benign | CCTGCAGGTGTGCAGGTGTGGGTTCCTCCCTCCTCTTCTCCCTGCAGGTGTGCAGGTGTGGGTTCCTCCCTCCTCTTCTCCCTGCAGGTGCGCAGGTGTGGGTTCCTCCCTCCCTTCCTCCCTCCAGGTGTGCAGGTGTGGGTTCCTCCCTCTCTTCCTCCCTCCCAGTGTGCAGGTGTGGGCTCCTCCCTCCTCTTCTCCCTCCAGGTGTGCAGGTGTGGGTTCCTCCCTCCTCTTCTCCCTCCAGGTGTGCAGGTGTGGGTTCCTCCCTCCCTTCCTCCCTCCAGGTGTGCATGTGTGGGTTCCTCCCTCCCTTCCTC... | CCTGCAGGTGTGCAGGTGTGGGTTCCTCCCTCCTCTTCTCCCTGCAGGTGTGCAGGTGTGGGTTCCTCCCTCCTCTTCTCCCTGCAGGTGCGCAGGTGTGGGTTCCTCCCTCCCTTCCTCCCTCCAGGTGTGCAGGTGTGGGTTCCTCCCTCTCTTCCTCCCTCCCAGTGTGCAGGTGTGGGCTCCTCCCTCCTCTTCTCCCTCCAGGTGTGCAGGTGTGGGTTCCTCCCTCCTCTTCTCCCTCCAGGTGTGCAGGTGTGGGTTCCTCCCTCCCTTCCTCCCTCCAGGTGTGCATGTGTGGGTTCCTCCCTCCCTTCCTC... |
Task1_train_48125 | This mutation on Chromosome 20 may be significant. Is it associated with any clinical condition, or is it benign? | Benign | CCTCCACGGAGCTGCACAACCTGGCCTCCCGCACAGAGTACCTGGTCTCCGTGTTCCCCATCTATGAGGGCGGGGTTGGCGAAGGCCTGCGGGGCCTGGTGACCACAGGTAGGTGGGGCAGAGGCAGCGGCCAGGTTCTGGGTGGGAGGCCCCACTCACGGCTGTCCCTTGGAGCCTGACACCCCAGGGCAGCATAGCGAGCAGCTCTGGATCTTAACCACCCACAGTTGGCACCATCCCCAGCTTGCTGTGTGACCAAGGCCGAGTCACTGGGCCCCTCTGACCCTGGGTGTTCTCTTCTGAACACCAGCTATACCGTT... | CCTCCACGGAGCTGCACAACCTGGCCTCCCGCACAGAGTACCTGGTCTCCGTGTTCCCCATCTATGAGGGCGGGGTTGGCGAAGGCCTGCGGGGCCTGGTGACCACAGGTAGGTGGGGCAGAGGCAGCGGCCAGGTTCTGGGTGGGAGGCCCCACTCACGGCTGTCCCTTGGAGCCTGACACCCCAGGGCAGCATAGCGAGCAGCTCTGGATCTTAACCACCCACAGTTGGCACCATCCCCAGCTTGCTGTGTGACCAAGGCCGAGTCACTGGGCCCCTCTGACCCTGGGTGTTCTCTTCTGAACACCAGCTATACCGTT... |
Task1_train_48126 | This sequence change occurs on Chromosome 20. What is the medical significance of this variant — is it benign or linked to a disease? | Benign | GTGGACACTCGGGGCAGGTGAGAGCAGAGCCCTCCGGGGGCCCGAGTGTCTTGAGGGACCACAGGGCCCTGTCTGGCAGGCATGGGGTGGAGCCAACCATCAGATAACACATTCAAAACCACAGCGGCCACGAGGCACAGCGGGGGCACCTGGTGTGGGGGCAGATGTGGGTGTGGGGTCTGGGGGGAACCAGGCTGGGGAGGCCCACCCCAGCCGTCCTGCAGTTCTGTTGCCCTCCCATCCCTCAGGACAAGCCCATTTTCCCCGTTTCTGGGGGGTCGTGGGGTAGTCCTGGCTGCAGGTGCTGGGCCTGATTCTCC... | GTGGACACTCGGGGCAGGTGAGAGCAGAGCCCTCCGGGGGCCCGAGTGTCTTGAGGGACCACAGGGCCCTGTCTGGCAGGCATGGGGTGGAGCCAACCATCAGATAACACATTCAAAACCACAGCGGCCACGAGGCACAGCGGGGGCACCTGGTGTGGGGGCAGATGTGGGTGTGGGGTCTGGGGGGAACCAGGCTGGGGAGGCCCACCCCAGCCGTCCTGCAGTTCTGTTGCCCTCCCATCCCTCAGGACAAGCCCATTTTCCCCGTTTCTGGGGGGTCGTGGGGTAGTCCTGGCTGCAGGTGCTGGGCCTGATTCTCC... |
Task1_train_48127 | Located on Chromosome 20, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | GAGGCCACCAGGCCAGGACAGAGTCCAGGCTACAGCCGACTGAAGCCATGGAACGGCCCCTCCCGGTTCGGCCCCACAGGAGCCCCCACCCAGGAGCCAGGAGCCAGGCCTAGAGAGCCTGGGATCTGTGTGCCTGTCCAGCTTCACCCGCCTTGCTCGCGGAAGGGCACACACAGAGGGACGGGGACTAACGCATGCACCTCCGTGGTGTGCCCAGAGCTGCGGCCGTGGCCTCCCTGTGGGGCAAAGCCAGGTTGTCTCAACTCAGCTGTAGGTTTAGCCGAGCAGTTCCCGCCCAGGGTGCAGGTCGGGTGGGCCTT... | GAGGCCACCAGGCCAGGACAGAGTCCAGGCTACAGCCGACTGAAGCCATGGAACGGCCCCTCCCGGTTCGGCCCCACAGGAGCCCCCACCCAGGAGCCAGGAGCCAGGCCTAGAGAGCCTGGGATCTGTGTGCCTGTCCAGCTTCACCCGCCTTGCTCGCGGAAGGGCACACACAGAGGGACGGGGACTAACGCATGCACCTCCGTGGTGTGCCCAGAGCTGCGGCCGTGGCCTCCCTGTGGGGCAAAGCCAGGTTGTCTCAACTCAGCTGTAGGTTTAGCCGAGCAGTTCCCGCCCAGGGTGCAGGTCGGGTGGGCCTT... |
Task1_train_48128 | A genomic variant on Chromosome 20 is under review. What is the biological outcome — benign or pathogenic? | Benign | CTAGAGAGCCTGGGATCTGTGTGCCTGTCCAGCTTCACCCGCCTTGCTCGCGGAAGGGCACACACAGAGGGACGGGGACTAACGCATGCACCTCCGTGGTGTGCCCAGAGCTGCGGCCGTGGCCTCCCTGTGGGGCAAAGCCAGGTTGTCTCAACTCAGCTGTAGGTTTAGCCGAGCAGTTCCCGCCCAGGGTGCAGGTCGGGTGGGCCTTTCAGGGCCTCGGCTGCCAGGTGTAGTGGGTGCCCACGGGGAGGAGTGGGTGCCCACAGGGAGGAGCGGGTGCCCACGGGGAGGAGCGGGTGCCCATGGGGTTCTCCTCT... | CTAGAGAGCCTGGGATCTGTGTGCCTGTCCAGCTTCACCCGCCTTGCTCGCGGAAGGGCACACACAGAGGGACGGGGACTAACGCATGCACCTCCGTGGTGTGCCCAGAGCTGCGGCCGTGGCCTCCCTGTGGGGCAAAGCCAGGTTGTCTCAACTCAGCTGTAGGTTTAGCCGAGCAGTTCCCGCCCAGGGTGCAGGTCGGGTGGGCCTTTCAGGGCCTCGGCTGCCAGGTGTAGTGGGTGCCCACGGGGAGGAGTGGGTGCCCACAGGGAGGAGCGGGTGCCCACGGGGAGGAGCGGGTGCCCATGGGGTTCTCCTCT... |
Task1_train_48129 | The following genetic variant occurs on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Benign | ACAGGGAGGGGTGAGGAGACAGCCCAGCGGAGGCACCTCAATGGCGACAGGGCCTGGGAGTGCCCTGGCCGGGCTGGGGGTAGGCAGAGAGGCCAGGGCAGCAGCTCCCCACAATGGACGCCAGACATGGCTCCCCGAACACCCTGAGCGCCAGGACCCCCACCAGCCAGGGGCGTACGACCCTCAAATGCTGCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTG... | ACAGGGAGGGGTGAGGAGACAGCCCAGCGGAGGCACCTCAATGGCGACAGGGCCTGGGAGTGCCCTGGCCGGGCTGGGGGTAGGCAGAGAGGCCAGGGCAGCAGCTCCCCACAATGGACGCCAGACATGGCTCCCCGAACACCCTGAGCGCCAGGACCCCCACCAGCCAGGGGCGTACGACCCTCAAATGCTGCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTG... |
Task1_train_48130 | A mutation found on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Benign | CACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCA... | CACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCA... |
Task1_train_48131 | Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Benign | GGCATGAACCAAGCGTGATGGATCACTGCAGACCGCCGGGGCTGGAGGGGACAAGGGCCACGCTCCTGCAGAGCTGCACACAGAGACCTCTCGCGTGGAGCCGCCTCATGCTGAGCACTGCGTGGCTTGTACCTGCCAGGCCAGGGTCCACCCTCATTCGGAGCTTCCGGCAGCACCCACCTGAGCCTAAGGCCATGGGGCAGGGACGGGAGGTGACCCAGGTGGGACCGAGCCTCCCAAACACTGGGTGCTCAACTGGACCCTGACAGGACACAGGTCAGGAAGTCTCAGGTCCTCAGAAGGCCCAGCTGCTAGCCTGA... | GGCATGAACCAAGCGTGATGGATCACTGCAGACCGCCGGGGCTGGAGGGGACAAGGGCCACGCTCCTGCAGAGCTGCACACAGAGACCTCTCGCGTGGAGCCGCCTCATGCTGAGCACTGCGTGGCTTGTACCTGCCAGGCCAGGGTCCACCCTCATTCGGAGCTTCCGGCAGCACCCACCTGAGCCTAAGGCCATGGGGCAGGGACGGGAGGTGACCCAGGTGGGACCGAGCCTCCCAAACACTGGGTGCTCAACTGGACCCTGACAGGACACAGGTCAGGAAGTCTCAGGTCCTCAGAAGGCCCAGCTGCTAGCCTGA... |
Task1_train_48132 | This alteration on Chromosome 20 may affect genome function. Does it lead to a disease or is it benign? | Benign | GCAGGAACGTCCCCAGCCCCTCCCAGATACCCAGGAGCACCAAACCTGTTCAGCTGGTGGCTGGCGAGATGCCTAGGAGGGCACAGGTGCCACAGACACACCTGGTCCCCTTAATCCCAGTGGCGGCTGCAGAGAGCACAGAGGGCGAGGCCTTCTGTGCCAGAGGAGCCCCCAGGCTGCTGTGCTGGGGACCTGCCAGAACTGGAAGCTCAGCTCAAGGCCTCAGTGGGCCCAGGTACCAGAACCAGCCCCTCCCCTAGGTTCTCCCATGCAGATGGAGCTGGGCAGGTGGCCAGGGTCCCAAAGGCTCAGATAAAGCC... | GCAGGAACGTCCCCAGCCCCTCCCAGATACCCAGGAGCACCAAACCTGTTCAGCTGGTGGCTGGCGAGATGCCTAGGAGGGCACAGGTGCCACAGACACACCTGGTCCCCTTAATCCCAGTGGCGGCTGCAGAGAGCACAGAGGGCGAGGCCTTCTGTGCCAGAGGAGCCCCCAGGCTGCTGTGCTGGGGACCTGCCAGAACTGGAAGCTCAGCTCAAGGCCTCAGTGGGCCCAGGTACCAGAACCAGCCCCTCCCCTAGGTTCTCCCATGCAGATGGAGCTGGGCAGGTGGCCAGGGTCCCAAAGGCTCAGATAAAGCC... |
Task1_train_48133 | A mutation on Chromosome 20 has been found. Is it harmful or harmless? What disease, if any, does it cause? | Benign | GCTTCCCTCCGCTTGGCCTTGTTCCTCCGATGCACGGGCCCCAGGAAGCCCCCGCGCTGCCTCCGTTCTCGGAGCCTCCGAGTGGCCTCTTCCTTCCCCGGGGCCACCTGTCTCTGCACACGGGAGTCTCATCTCTTAGCTCCCTCCTGAGCCAGGCTTTGGCCGGGGCCTGTGGACGGCAGCCATCAGCACTTCGGCTCAGCAGGTACAGAGCTGACCCCAACTCTAGGGGACAAGGACTCAGTCAGGCCTGAACTTGTCTCCAAACTTTCTGTCCCCGAAAGCCTTCTGGGCACAGCTGCCAACCTGGGCTCCCAGGA... | GCTTCCCTCCGCTTGGCCTTGTTCCTCCGATGCACGGGCCCCAGGAAGCCCCCGCGCTGCCTCCGTTCTCGGAGCCTCCGAGTGGCCTCTTCCTTCCCCGGGGCCACCTGTCTCTGCACACGGGAGTCTCATCTCTTAGCTCCCTCCTGAGCCAGGCTTTGGCCGGGGCCTGTGGACGGCAGCCATCAGCACTTCGGCTCAGCAGGTACAGAGCTGACCCCAACTCTAGGGGACAAGGACTCAGTCAGGCCTGAACTTGTCTCCAAACTTTCTGTCCCCGAAAGCCTTCTGGGCACAGCTGCCAACCTGGGCTCCCAGGA... |
Task1_train_48134 | This genomic variant is located on Chromosome 20. Can you determine its pathogenicity and name any linked disease? | Benign | CTGAGTGCTGTGTGCGTGAGTGGGTTTGTGCACAGGCCGCCAGTGTGTCTGTGAGGGGCAGGTGACGGTGCCACCCCGTGCCTACATACCACACATCCAGTGGGGTCAACACCACGGTCTGCCTGGGAGTCAGCACTGGTCATTTCCACAAACCCAAGCTGGGACTAGGGAGAGAACTGGGCCTTTGGCTCTTCACCCTGGGAGGGAGTCCAGGGGACCCAGGCAGGAGACACACAGGGCTCAGGGTTCCTCACCCAGAGCCTCCGAGGCTTCTACCCACCCTCCTGTGCCGTTGTCTCTCTTGAGAGGCCAGGGACACG... | CTGAGTGCTGTGTGCGTGAGTGGGTTTGTGCACAGGCCGCCAGTGTGTCTGTGAGGGGCAGGTGACGGTGCCACCCCGTGCCTACATACCACACATCCAGTGGGGTCAACACCACGGTCTGCCTGGGAGTCAGCACTGGTCATTTCCACAAACCCAAGCTGGGACTAGGGAGAGAACTGGGCCTTTGGCTCTTCACCCTGGGAGGGAGTCCAGGGGACCCAGGCAGGAGACACACAGGGCTCAGGGTTCCTCACCCAGAGCCTCCGAGGCTTCTACCCACCCTCCTGTGCCGTTGTCTCTCTTGAGAGGCCAGGGACACG... |
Task1_train_48135 | This variant is present on Chromosome 20. Is the change likely to result in a pathogenic outcome? | Benign | AGTCACACTGCACGGGGAACGTCAGCCCCAGCCCTTCGTCTGCACGAGTCACACTGCATGGGGGACGTCAGCCCCAGCCCTCCGTCTGCACGAGTCACACTGCACGGGGGACGTCAGCCCCAGCCCTCCGTCTGCACGTCTGCCTGGTGCACGAACATGTGTGCACGCCAGGGCCTGAGGCCCACAGCCAGAGGCTCCTCGGTCCGGCAGACCGGCATCCCTTCGAGTTGGCGCTCTGCAGGGAGGAGGGGCTGGCCTGGCTGGAGCCCAGAGCGTTGGGTCACGTGAGGACTCAGGGGTGGCATCTGTGGATGGCGTGC... | AGTCACACTGCACGGGGAACGTCAGCCCCAGCCCTTCGTCTGCACGAGTCACACTGCATGGGGGACGTCAGCCCCAGCCCTCCGTCTGCACGAGTCACACTGCACGGGGGACGTCAGCCCCAGCCCTCCGTCTGCACGTCTGCCTGGTGCACGAACATGTGTGCACGCCAGGGCCTGAGGCCCACAGCCAGAGGCTCCTCGGTCCGGCAGACCGGCATCCCTTCGAGTTGGCGCTCTGCAGGGAGGAGGGGCTGGCCTGGCTGGAGCCCAGAGCGTTGGGTCACGTGAGGACTCAGGGGTGGCATCTGTGGATGGCGTGC... |
Task1_train_48136 | Located on Chromosome 20, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | GGTCTCCCCTGTCCAGGTGGGCCGCCCACCAGGTCACATCTACTCATTCCTGGGAGCCGGAGGCATCCTTGGAAGGAAGACAGAAATGCTCCCAGCCCCACCCCGTCTGCATAACTCTGCTGCTGAAGTCCAAGGCGGGGACTCCACACCTGACTCAGCTTCCCACCCTGGAGCCTCCCACTTCCTGGAGCTTCCTGGGACCCGGAGAGGGATGCCTGCCACTCCCCTGCCCCAGGGCACACCCCGTAAGCACCAGGAGGAAGAAGCAGAGTGAGCCGGTGTCAGGGTGGGGCTGAAACCACCTGGGAAGCGGGACTAGG... | GGTCTCCCCTGTCCAGGTGGGCCGCCCACCAGGTCACATCTACTCATTCCTGGGAGCCGGAGGCATCCTTGGAAGGAAGACAGAAATGCTCCCAGCCCCACCCCGTCTGCATAACTCTGCTGCTGAAGTCCAAGGCGGGGACTCCACACCTGACTCAGCTTCCCACCCTGGAGCCTCCCACTTCCTGGAGCTTCCTGGGACCCGGAGAGGGATGCCTGCCACTCCCCTGCCCCAGGGCACACCCCGTAAGCACCAGGAGGAAGAAGCAGAGTGAGCCGGTGTCAGGGTGGGGCTGAAACCACCTGGGAAGCGGGACTAGG... |
Task1_train_48137 | This sequence change occurs on Chromosome 20. What is the medical significance of this variant — is it benign or linked to a disease? | Benign | CTCTTGGCACAGGTGCGGACGGTGCTCACCAGCACATAGCGCCACTCGCTCCCTGCGGGATGGGAGGTGAGGCCCTGCTGCCGCTGCGCCCACCCTCCCGGCCCCACCCACGAGCCCCCAGCCTCACCCTGGCTCTTGGTGATGGAGGACACGGCCACCCCGGCGATGCCCTCTCGCCGAAGGGCCTTGCTGATCTCAGAGGCCTGCGCGTTGTAGGGCGTGAGGACGGCGATGTCCTGGGGCTCTACGGTCCTCCCCAGGGTCAGCTGCTTGGTGATACGGACCTGAGGAGCCGAGGGGGCAGGTGGAGCGGACCCTGG... | CTCTTGGCACAGGTGCGGACGGTGCTCACCAGCACATAGCGCCACTCGCTCCCTGCGGGATGGGAGGTGAGGCCCTGCTGCCGCTGCGCCCACCCTCCCGGCCCCACCCACGAGCCCCCAGCCTCACCCTGGCTCTTGGTGATGGAGGACACGGCCACCCCGGCGATGCCCTCTCGCCGAAGGGCCTTGCTGATCTCAGAGGCCTGCGCGTTGTAGGGCGTGAGGACGGCGATGTCCTGGGGCTCTACGGTCCTCCCCAGGGTCAGCTGCTTGGTGATACGGACCTGAGGAGCCGAGGGGGCAGGTGGAGCGGACCCTGG... |
Task1_train_48138 | A sequence alteration has been identified on Chromosome 20. Is it disease-inducing or harmless? | Benign | CAGGCCCTGCCACGTCTTCAGCTTGCTCTTGTAGAACGCCACAGAGGGGAAGGCACAGATGCCCTCATGCTGCAGGCAAGGATGTGCGCTGGTCAGAGGCTGCCACGCGGGGTTGTGGCCCCCCAGGGGCTGCAGGTGGGCTGGGGGCTGAGTGGGGCGGGCTCACCATGCGGTACTGAGTGTCCAGCATATGTGCGTCCTCGTGGTACCGCTCGAACAGAGACCGGTCCAGACCCAGGTTTTGCAGCCGCTCATTCTTGACCACAGGCCGCAGCTGCTTGTGGTCTCCGAGAAGAACCACCTGGAGGAATAGGCAGGCC... | CAGGCCCTGCCACGTCTTCAGCTTGCTCTTGTAGAACGCCACAGAGGGGAAGGCACAGATGCCCTCATGCTGCAGGCAAGGATGTGCGCTGGTCAGAGGCTGCCACGCGGGGTTGTGGCCCCCCAGGGGCTGCAGGTGGGCTGGGGGCTGAGTGGGGCGGGCTCACCATGCGGTACTGAGTGTCCAGCATATGTGCGTCCTCGTGGTACCGCTCGAACAGAGACCGGTCCAGACCCAGGTTTTGCAGCCGCTCATTCTTGACCACAGGCCGCAGCTGCTTGTGGTCTCCGAGAAGAACCACCTGGAGGAATAGGCAGGCC... |
Task1_train_48139 | A mutation on Chromosome 20 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Benign | GCTGCCACGCGGGGTTGTGGCCCCCCAGGGGCTGCAGGTGGGCTGGGGGCTGAGTGGGGCGGGCTCACCATGCGGTACTGAGTGTCCAGCATATGTGCGTCCTCGTGGTACCGCTCGAACAGAGACCGGTCCAGACCCAGGTTTTGCAGCCGCTCATTCTTGACCACAGGCCGCAGCTGCTTGTGGTCTCCGAGAAGAACCACCTGGAGGAATAGGCAGGCCTGGCCCTGACACCCCTAGACCCAGAGGGACCCCAGCCCCACACGACACCCGCGTCTGCACACACAGGGCACCCCAGGTGGGAGACTGTGCCAGGGACG... | GCTGCCACGCGGGGTTGTGGCCCCCCAGGGGCTGCAGGTGGGCTGGGGGCTGAGTGGGGCGGGCTCACCATGCGGTACTGAGTGTCCAGCATATGTGCGTCCTCGTGGTACCGCTCGAACAGAGACCGGTCCAGACCCAGGTTTTGCAGCCGCTCATTCTTGACCACAGGCCGCAGCTGCTTGTGGTCTCCGAGAAGAACCACCTGGAGGAATAGGCAGGCCTGGCCCTGACACCCCTAGACCCAGAGGGACCCCAGCCCCACACGACACCCGCGTCTGCACACACAGGGCACCCCAGGTGGGAGACTGTGCCAGGGACG... |
Task1_train_48140 | This variant is found on Chromosome 20. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Benign | GGGGATGAGGGTTTCAGGTTCCGTGGCCATGCCTGCCTCGTCAACAAGGATCTGCCTCACGTCCAGGATTTTGAGGCTGGCAGAGGCTGCACAGGAGCAGGTGCAGAGGATGACCTCATGCCGGTCCAGCTCGAACTTCCGAGCCTCCCACAAGACCTTCTTGTACCTGCCGGGGACACTGCTTGTCACCCCAGGGCCCCCATGCTGCAGGCAGCTCCACCCCCTGGCCCCTGCCACTTACCAGACCAGGTCCTCCCTGGAGAAGAGCTCCCCTCTCTGCAGCCGGGTGTCAAAGGCCTTGATTTCCGACGAGTAAGGGT... | GGGGATGAGGGTTTCAGGTTCCGTGGCCATGCCTGCCTCGTCAACAAGGATCTGCCTCACGTCCAGGATTTTGAGGCTGGCAGAGGCTGCACAGGAGCAGGTGCAGAGGATGACCTCATGCCGGTCCAGCTCGAACTTCCGAGCCTCCCACAAGACCTTCTTGTACCTGCCGGGGACACTGCTTGTCACCCCAGGGCCCCCATGCTGCAGGCAGCTCCACCCCCTGGCCCCTGCCACTTACCAGACCAGGTCCTCCCTGGAGAAGAGCTCCCCTCTCTGCAGCCGGGTGTCAAAGGCCTTGATTTCCGACGAGTAAGGGT... |
Task1_train_48141 | This variant is found on Chromosome 20. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Benign | GCTGCAGGCAGCTCCACCCCCTGGCCCCTGCCACTTACCAGACCAGGTCCTCCCTGGAGAAGAGCTCCCCTCTCTGCAGCCGGGTGTCAAAGGCCTTGATTTCCGACGAGTAAGGGTTGGGGGCCTGCCGGATCCGGTGGTGCAGGGTGATGCTCCTGGGGGACAGGACACAGTGAGCCCTGTCCACGCAGGGCCATCACGGGGGCAGAGCTCAGTGAGACCCACCTACACAGGACTGTCTGGACAGCTCGGCCCCACTCCGCCCAAGCCCCAAAGACAGCAGGCACACCTGAGGCTCTGGTTCGGCCTCCCCTCCCGGG... | GCTGCAGGCAGCTCCACCCCCTGGCCCCTGCCACTTACCAGACCAGGTCCTCCCTGGAGAAGAGCTCCCCTCTCTGCAGCCGGGTGTCAAAGGCCTTGATTTCCGACGAGTAAGGGTTGGGGGCCTGCCGGATCCGGTGGTGCAGGGTGATGCTCCTGGGGGACAGGACACAGTGAGCCCTGTCCACGCAGGGCCATCACGGGGGCAGAGCTCAGTGAGACCCACCTACACAGGACTGTCTGGACAGCTCGGCCCCACTCCGCCCAAGCCCCAAAGACAGCAGGCACACCTGAGGCTCTGGTTCGGCCTCCCCTCCCGGG... |
Task1_train_48142 | A genomic variant on Chromosome 20 is under review. What is the biological outcome — benign or pathogenic? | Benign | TGGGAGCCTCCTGCCGGTCTGCCCGGCGCTCCTGGTCCCAGTCCTGCGTCTGCCCGTGGGCCACCCAGGTATACGTGCCGGGGTCAACATTCAGGCCAGGGCCGAGGCTGCTGGGCCCAGGGCGTGGGCTGGCCGTGGGAGCCGGCAGCCCCTCGAGCCGGATGCAGAGGTAGCAGCAGCTGAAGTTGATGTCGGCACAGTTCTCCTCGAGGAAGGCGGCCTCCAGGCGGAAGGCGCCCTGCAGCTGCCCCTGCGGCGTCCGTGACGCCTCCCAGGAGACACTCAGGTGCTGAAGTGTGACGGAGTCATTCTCGGCAACC... | TGGGAGCCTCCTGCCGGTCTGCCCGGCGCTCCTGGTCCCAGTCCTGCGTCTGCCCGTGGGCCACCCAGGTATACGTGCCGGGGTCAACATTCAGGCCAGGGCCGAGGCTGCTGGGCCCAGGGCGTGGGCTGGCCGTGGGAGCCGGCAGCCCCTCGAGCCGGATGCAGAGGTAGCAGCAGCTGAAGTTGATGTCGGCACAGTTCTCCTCGAGGAAGGCGGCCTCCAGGCGGAAGGCGCCCTGCAGCTGCCCCTGCGGCGTCCGTGACGCCTCCCAGGAGACACTCAGGTGCTGAAGTGTGACGGAGTCATTCTCGGCAACC... |
Task1_train_48143 | A mutation located on Chromosome 20 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Benign | GTGCTGGCCTCAGGCAGCACCTCCCGGACGATGCCCAGCGGGTAGTAGAAGCCTTGCCGCCACAGGACAATTTGGACCCAGAAGAGCCGGCTGTGCCGGGCCTCGGCGGTGAGCCTCTCAAGCCCCACACGCTGCAGCCGGCCCTTCCGGAGGCTGTAGATGGGGACCTGCGATGGGTCCTTCAGCTCGGCCACGAAGATCTTGGTCACGGAGCCATTGATGGGGACCATGATGCGCGGGTCCCACGTGTCCATGCGGCACACAAACGCCAGCTCGTGCCTCTTCCTCTTCAGCACGCCCAGCACGCGGCCCCGAAGCCG... | GTGCTGGCCTCAGGCAGCACCTCCCGGACGATGCCCAGCGGGTAGTAGAAGCCTTGCCGCCACAGGACAATTTGGACCCAGAAGAGCCGGCTGTGCCGGGCCTCGGCGGTGAGCCTCTCAAGCCCCACACGCTGCAGCCGGCCCTTCCGGAGGCTGTAGATGGGGACCTGCGATGGGTCCTTCAGCTCGGCCACGAAGATCTTGGTCACGGAGCCATTGATGGGGACCATGATGCGCGGGTCCCACGTGTCCATGCGGCACACAAACGCCAGCTCGTGCCTCTTCCTCTTCAGCACGCCCAGCACGCGGCCCCGAAGCCG... |
Task1_train_48144 | Located on Chromosome 20, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | TCCAGCATCTGGGCCGCCTCATCGATGAGAATGTGGGAGAAGAAGCCGACCGGCACCCTGAGCTCACGGGCCTGGGAGGTGGTGGTGACCACCACGCGGTGCCGCGCCAGCTCTGCCCGTGTGGGCGGGCGGAAAGCCTGGCGGTCGTCGGTCAGGCAACAGTACTGCAGCGTGACTGGGTCCGTCTGGCTCAGCGGCCGGTCCGTGTACATCACACGGAGAGGAGTGGCCTCGGGGTGGCCGCCGCTGACGTGGCTGTGGAAATACTCCCGGATGTAGATGTCGGCGGCACTGCGGGAGGGGGAGGAGCTCATGGGCTT... | TCCAGCATCTGGGCCGCCTCATCGATGAGAATGTGGGAGAAGAAGCCGACCGGCACCCTGAGCTCACGGGCCTGGGAGGTGGTGGTGACCACCACGCGGTGCCGCGCCAGCTCTGCCCGTGTGGGCGGGCGGAAAGCCTGGCGGTCGTCGGTCAGGCAACAGTACTGCAGCGTGACTGGGTCCGTCTGGCTCAGCGGCCGGTCCGTGTACATCACACGGAGAGGAGTGGCCTCGGGGTGGCCGCCGCTGACGTGGCTGTGGAAATACTCCCGGATGTAGATGTCGGCGGCACTGCGGGAGGGGGAGGAGCTCATGGGCTT... |
Task1_train_48145 | A mutation has occurred on Chromosome 20. What is the medical relevance of this mutation? | Benign | TACTATTTTCACTATCTCAGCAAGAGGAATGCGGCAGGACAGCAAGGTGATAGTGGGGAGAAGGTCAGCAAGAAAACGTGAGCAAAGGAATCTGGGTCACAAATAAGTTCAAGGGAAGGTACTATGCCTGGATGTGCACGTAGGCTAGTTTTATGCTTTTCTCCACCCAAACATCTCGGTGGAGTAAAGAGTAACAGAGCAGCATTGCTGCCAATATGTCTCGCCTCCTGCCACAGGGCGGCTTTTCTCCTATCTCAGAATTGAACAAATGTACAATCGGGTTTTATACCGAAACATTCAGTTCCCAGGGGCAGGCAGGA... | TACTATTTTCACTATCTCAGCAAGAGGAATGCGGCAGGACAGCAAGGTGATAGTGGGGAGAAGGTCAGCAAGAAAACGTGAGCAAAGGAATCTGGGTCACAAATAAGTTCAAGGGAAGGTACTATGCCTGGATGTGCACGTAGGCTAGTTTTATGCTTTTCTCCACCCAAACATCTCGGTGGAGTAAAGAGTAACAGAGCAGCATTGCTGCCAATATGTCTCGCCTCCTGCCACAGGGCGGCTTTTCTCCTATCTCAGAATTGAACAAATGTACAATCGGGTTTTATACCGAAACATTCAGTTCCCAGGGGCAGGCAGGA... |
Task1_train_48146 | A mutation on Chromosome 20 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Benign | CCCAGGGAACGCTCAATGTTCCAAGGAAGGCTCTGCAGCCCCAGGGACCAGATGATGAGGCTGGCCCTGATGGAGCCTCGGGCCTGTGTCCTGCAGGAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCCAAGCTCTTCATGGTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACCCAGGCCCTGCAGGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCC... | CCCAGGGAACGCTCAATGTTCCAAGGAAGGCTCTGCAGCCCCAGGGACCAGATGATGAGGCTGGCCCTGATGGAGCCTCGGGCCTGTGTCCTGCAGGAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCCAAGCTCTTCATGGTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACCCAGGCCCTGCAGGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCC... |
Task1_train_48147 | A mutation located on Chromosome 20 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Benign | GGTTTTCGACTGCTCCAGGAAGGTCTGAGGAGAGAGGCAGAGGCGAAACACATCAAGGAGGGGCTATACTGGCTTCCAAATATCCTTACTCAGGTCTGTTCTTTAAAAGACAGAAACAGAAACAGAGCAACACTCTGCTCTTCAGGAGGCTGGTGGTGACTATCCTGCCGTCTCAGGTGAAATTTGGCTTCCGTCTGGGTAGTGAACGTGCAGCTGACAGCACAAAACCGAAGGGGGCGCCGCCAGGCCGTGGGAAAGGTGCGCGCAAGGGCGTGGGCACTCACCGTCTTCCCAGCATTGTCCAGGCCCAGGATCAGGAT... | GGTTTTCGACTGCTCCAGGAAGGTCTGAGGAGAGAGGCAGAGGCGAAACACATCAAGGAGGGGCTATACTGGCTTCCAAATATCCTTACTCAGGTCTGTTCTTTAAAAGACAGAAACAGAAACAGAGCAACACTCTGCTCTTCAGGAGGCTGGTGGTGACTATCCTGCCGTCTCAGGTGAAATTTGGCTTCCGTCTGGGTAGTGAACGTGCAGCTGACAGCACAAAACCGAAGGGGGCGCCGCCAGGCCGTGGGAAAGGTGCGCGCAAGGGCGTGGGCACTCACCGTCTTCCCAGCATTGTCCAGGCCCAGGATCAGGAT... |
Task1_train_48148 | This variant lies on Chromosome 20. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Benign | GGGAGGCGCTTGGCGACAGGAGCAGGAAGTGATGAGGTGGGGAGCTCAGCCGAGGGCTGCACAAAGACCTTCCTGGCCTGCCCCAGACAGAGCTGAGGACCCCTGGCCGTGGGCTTGGTAAGTGCCCTCCTGGGGGGCAGCTGGGGTCTGGGAGGCCTTGGGATGTGGCTGCAGCTGGGTCAGTCAGCCAGGCTGAAGCCCACTCCCTGGGTCTGAGCAGACTGGCCCCAAACTCCAGAGACCACCCCTCACCCCCCAGCTTCTGTCTCTGCTGCTGGACTGTGCTGTTTGTAAGGCATCCCCCACCCCGAGAAGTTCTG... | GGGAGGCGCTTGGCGACAGGAGCAGGAAGTGATGAGGTGGGGAGCTCAGCCGAGGGCTGCACAAAGACCTTCCTGGCCTGCCCCAGACAGAGCTGAGGACCCCTGGCCGTGGGCTTGGTAAGTGCCCTCCTGGGGGGCAGCTGGGGTCTGGGAGGCCTTGGGATGTGGCTGCAGCTGGGTCAGTCAGCCAGGCTGAAGCCCACTCCCTGGGTCTGAGCAGACTGGCCCCAAACTCCAGAGACCACCCCTCACCCCCCAGCTTCTGTCTCTGCTGCTGGACTGTGCTGTTTGTAAGGCATCCCCCACCCCGAGAAGTTCTG... |
Task1_train_48149 | With a mutation on Chromosome 20, classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Benign | AAATACACAAATTATCTGGGCGTGGTGGCACGTGCCTGTAATCCCCAGCTAATCGGAGGCTGTGGCAGGAGAATCACTTGAATCCGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGTCACTGCACTCCAGCCTGGGCAACACGGTGAGACTGTCTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTGGAGTGCAATGGCGCGATCTCGGCTCACCACAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTACTTTTCTGTATTTTTA... | AAATACACAAATTATCTGGGCGTGGTGGCACGTGCCTGTAATCCCCAGCTAATCGGAGGCTGTGGCAGGAGAATCACTTGAATCCGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGTCACTGCACTCCAGCCTGGGCAACACGGTGAGACTGTCTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTGGAGTGCAATGGCGCGATCTCGGCTCACCACAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTACTTTTCTGTATTTTTA... |
Task1_train_48150 | This sequence change occurs on Chromosome 20. What is the medical significance of this variant — is it benign or linked to a disease? | Benign | AGCTGCCCTCTTCCCTGGGGCTCCTCCTGGCAGGCGGCTTCCGACCCTGCCCTCAGGTGGGCTGGCCCTTTCCAGGGCAGGAGAAAAGATACCTCTCCAGAAAAGAGGGAGGCGCAGCCTGGGAGTGGGGGCTCGACCCAGGAGCGAGAAAGAGGAACCCCAGCCAGGCAGGACCCGCCCCAGAAGGTCACTGCTGTTGCTGGCAGCCAGTGAAAAGAGGATCCAGAAAAGGAGAGGGCTTGTTTCTGGTCAGCACCGAAGAAGGAAGGTGTGGAGAGGAGGGGCCGGGCCGAGAGCAAATACCGCCTTTTTGGTGCAGC... | AGCTGCCCTCTTCCCTGGGGCTCCTCCTGGCAGGCGGCTTCCGACCCTGCCCTCAGGTGGGCTGGCCCTTTCCAGGGCAGGAGAAAAGATACCTCTCCAGAAAAGAGGGAGGCGCAGCCTGGGAGTGGGGGCTCGACCCAGGAGCGAGAAAGAGGAACCCCAGCCAGGCAGGACCCGCCCCAGAAGGTCACTGCTGTTGCTGGCAGCCAGTGAAAAGAGGATCCAGAAAAGGAGAGGGCTTGTTTCTGGTCAGCACCGAAGAAGGAAGGTGTGGAGAGGAGGGGCCGGGCCGAGAGCAAATACCGCCTTTTTGGTGCAGC... |
Task1_train_48151 | Given this context: Chromosome 20 — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Benign | CCTGAGCCTTGGGGTAGCCAGGGAAGGGACCCGGCAGGGCCTGAGGAAGCGGAGCCGGGGGGCCAAAGGCCATCTGCCTACTCTGCGCTGCAGCCCCTGTGGCACCAAGACCCCAGACACATTCCCATGAGGAGGGGCAACCCTCCTGGCTATTGCACTTCTGCTGGGCACACCTTGGGGAGCCCCAACCCAGGTGTGCCCTGTGGCAGCCTTAACAGGGGAAGGGCCACCTTCAGGGAAGGGAGAGTGGCTGGCTGCCCCACTGGACGGATGAAGAGGCGGGGGTGGGGGATGGAGAACTGGAGGACAGAGGTCCCGGA... | CCTGAGCCTTGGGGTAGCCAGGGAAGGGACCCGGCAGGGCCTGAGGAAGCGGAGCCGGGGGGCCAAAGGCCATCTGCCTACTCTGCGCTGCAGCCCCTGTGGCACCAAGACCCCAGACACATTCCCATGAGGAGGGGCAACCCTCCTGGCTATTGCACTTCTGCTGGGCACACCTTGGGGAGCCCCAACCCAGGTGTGCCCTGTGGCAGCCTTAACAGGGGAAGGGCCACCTTCAGGGAAGGGAGAGTGGCTGGCTGCCCCACTGGACGGATGAAGAGGCGGGGGTGGGGGATGGAGAACTGGAGGACAGAGGTCCCGGA... |
Task1_train_48152 | Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Benign | CCCAACCCAGGTGTGCCCTGTGGCAGCCTTAACAGGGGAAGGGCCACCTTCAGGGAAGGGAGAGTGGCTGGCTGCCCCACTGGACGGATGAAGAGGCGGGGGTGGGGGATGGAGAACTGGAGGACAGAGGTCCCGGAGCTGGCCCTGCCTTGAACAGAGGGCGGTGTGGCGGCTGCATGGGGGCCAGGCCCCACGCACCATGCTCACTTTTCAGGCGCCTTGCTGACTCCCACCTTCCGGCCGGTGGAGCCCCGGGCCCCCTTGTCTCTGCATCCTGGAGGCCAGTCGTCCCGGCGCGGGGGCAGCTTGGCCACAGGCTC... | CCCAACCCAGGTGTGCCCTGTGGCAGCCTTAACAGGGGAAGGGCCACCTTCAGGGAAGGGAGAGTGGCTGGCTGCCCCACTGGACGGATGAAGAGGCGGGGGTGGGGGATGGAGAACTGGAGGACAGAGGTCCCGGAGCTGGCCCTGCCTTGAACAGAGGGCGGTGTGGCGGCTGCATGGGGGCCAGGCCCCACGCACCATGCTCACTTTTCAGGCGCCTTGCTGACTCCCACCTTCCGGCCGGTGGAGCCCCGGGCCCCCTTGTCTCTGCATCCTGGAGGCCAGTCGTCCCGGCGCGGGGGCAGCTTGGCCACAGGCTC... |
Task1_train_48153 | This genomic variant is located on Chromosome 20. Can you determine its pathogenicity and name any linked disease? | Benign | TGTGAGGCCTGGGGTGGGCTTGGGCACCTCCTGAAAGCTCTCAGCCTCTGTTCCTGCTCAGAGGGCCACACCCAGGCTCTGGCCCTGTATGGCTCCCCACGCCCCCCACCCGGCTGCCTCCGCTCACGTCGTTGGGACAGTTGACGTGGCCTTTCTCCTTCACTTCATTCTTCCATGCCTCTAGCAGCTGGGGGTTCAGCGTGGGGAGCCCTGGTCGAGTGTAGTTGAGCTGTGAATTCGACAGCACCAGGGTGAGCCTGAGGCCAGAAGACACCCCAGCTGCTCTAAGAACACTCGCCTCGGCAGCAGGCGACACTCGC... | TGTGAGGCCTGGGGTGGGCTTGGGCACCTCCTGAAAGCTCTCAGCCTCTGTTCCTGCTCAGAGGGCCACACCCAGGCTCTGGCCCTGTATGGCTCCCCACGCCCCCCACCCGGCTGCCTCCGCTCACGTCGTTGGGACAGTTGACGTGGCCTTTCTCCTTCACTTCATTCTTCCATGCCTCTAGCAGCTGGGGGTTCAGCGTGGGGAGCCCTGGTCGAGTGTAGTTGAGCTGTGAATTCGACAGCACCAGGGTGAGCCTGAGGCCAGAAGACACCCCAGCTGCTCTAAGAACACTCGCCTCGGCAGCAGGCGACACTCGC... |
Task1_train_48154 | Here is a genetic alteration on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Benign | TGTCACTCGGTGGACAGCCCCAGCCCTGGAGGTGCACACCGGGCTGGGGTCTTACCTTTGAGCCCAAAGGTCCCTGAGATGGATGGCTGCTCCCCTGTAAACTTTTTGGGTGTTTTCTGTTTCCTTCCTGACTCGGGGAGAGAAAACGGGGGCCAAGATTCTGGTGAAATAACCGTCAGGAGGCCGAGCCTGCCCCGGCCGCCACCCCTGGAGCTCTCATCTTACTGTGCTTTGTGCGCTCCGGGTCCTCCTCAGGCGGGGACGCAGGGCCTGCAGCCTTCAGTGCCTCCATGCCCCCTGACGGCCTGCTGCCTGGCGAC... | TGTCACTCGGTGGACAGCCCCAGCCCTGGAGGTGCACACCGGGCTGGGGTCTTACCTTTGAGCCCAAAGGTCCCTGAGATGGATGGCTGCTCCCCTGTAAACTTTTTGGGTGTTTTCTGTTTCCTTCCTGACTCGGGGAGAGAAAACGGGGGCCAAGATTCTGGTGAAATAACCGTCAGGAGGCCGAGCCTGCCCCGGCCGCCACCCCTGGAGCTCTCATCTTACTGTGCTTTGTGCGCTCCGGGTCCTCCTCAGGCGGGGACGCAGGGCCTGCAGCCTTCAGTGCCTCCATGCCCCCTGACGGCCTGCTGCCTGGCGAC... |
Task1_train_48155 | Located on Chromosome 20, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | GGCACAGAGAGACTCGGAGAGAGGGAGGAGAGAGAGAGGAAGCGAGGTTCAGAGAGACTCAGAGGGAGAAAGAGAATCAGCAAAACACACAGAGACTTAAAGGAGAGAGGCAGAGGGAAAGGAAGGAGAGCAAAAGGCAGGGACGGAACAGAGAAAAGCCAGATGAAGACAGCACAGAGAGATGGGAAGAGACACAGAAGAAAGGCAGAGAGGTCCGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGATCAGGAGTTCGAGATCATCCTGGGCAACACAGTGAAAC... | GGCACAGAGAGACTCGGAGAGAGGGAGGAGAGAGAGAGGAAGCGAGGTTCAGAGAGACTCAGAGGGAGAAAGAGAATCAGCAAAACACACAGAGACTTAAAGGAGAGAGGCAGAGGGAAAGGAAGGAGAGCAAAAGGCAGGGACGGAACAGAGAAAAGCCAGATGAAGACAGCACAGAGAGATGGGAAGAGACACAGAAGAAAGGCAGAGAGGTCCGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGATCAGGAGTTCGAGATCATCCTGGGCAACACAGTGAAAC... |
Task1_train_48156 | This mutation is located on Chromosome 20. Is it associated with a disease or is it a benign polymorphism? | Benign | CCATGTGAATGGTGGGTACCCATTGGATATGGGCGGGTCAGCACAGGTATGTGGGGTGCAGCCATTGCTTGGGGACCCACGGTGATGCTCTGTGCTCCCTCTTCCCACAGTAACTGCATTAAAGTGTTTCATCTGAGCTTTGTCATCATCTCTGGGGGCACTGCTGACCTGAGTCTGGGGAGGCAGGCGTCTTGATCCAGGTCTGGTTACAGAGGGGCACCCCACATTCATTGTCAATGAATGAATGAATGAAGGCTCTGTATGGTATCTGCAAGTGAACAGAGCCTGTGGGGAGACAGAAGGTGGGCACAGGCCTGCCC... | CCATGTGAATGGTGGGTACCCATTGGATATGGGCGGGTCAGCACAGGTATGTGGGGTGCAGCCATTGCTTGGGGACCCACGGTGATGCTCTGTGCTCCCTCTTCCCACAGTAACTGCATTAAAGTGTTTCATCTGAGCTTTGTCATCATCTCTGGGGGCACTGCTGACCTGAGTCTGGGGAGGCAGGCGTCTTGATCCAGGTCTGGTTACAGAGGGGCACCCCACATTCATTGTCAATGAATGAATGAATGAAGGCTCTGTATGGTATCTGCAAGTGAACAGAGCCTGTGGGGAGACAGAAGGTGGGCACAGGCCTGCCC... |
Task1_train_48157 | A mutation is present on Chromosome 20. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | GGGGGCACTGCTGACCTGAGTCTGGGGAGGCAGGCGTCTTGATCCAGGTCTGGTTACAGAGGGGCACCCCACATTCATTGTCAATGAATGAATGAATGAAGGCTCTGTATGGTATCTGCAAGTGAACAGAGCCTGTGGGGAGACAGAAGGTGGGCACAGGCCTGCCCCTGTCTTTACAGCACCCTAGCACCCAGGCCTTCAGCAGGGCAGGTGAGGTTCCCACGCTAGGGCCCTCATCCCATCCACCCTAGAGTGAGAGACCCTCCCGGCCTCAGACTCAGCCACCCACTCCACACCCAGGGCAGGGGTTGGGGATGTGT... | GGGGGCACTGCTGACCTGAGTCTGGGGAGGCAGGCGTCTTGATCCAGGTCTGGTTACAGAGGGGCACCCCACATTCATTGTCAATGAATGAATGAATGAAGGCTCTGTATGGTATCTGCAAGTGAACAGAGCCTGTGGGGAGACAGAAGGTGGGCACAGGCCTGCCCCTGTCTTTACAGCACCCTAGCACCCAGGCCTTCAGCAGGGCAGGTGAGGTTCCCACGCTAGGGCCCTCATCCCATCCACCCTAGAGTGAGAGACCCTCCCGGCCTCAGACTCAGCCACCCACTCCACACCCAGGGCAGGGGTTGGGGATGTGT... |
Task1_train_48158 | This alteration on Chromosome 20 may affect genome function. Does it lead to a disease or is it benign? | Benign | ACAGCACACCTGGGACCAACCCCTGGCCCCTCCCACCTGACAGTCAGCGGTCTCTGAACTGCCTGCATTTCATTACCACCCCTCACCCTGCCCCCACCAGAGTTTCAGCATGCAGCTCCTGCTGGCTGATTACAAGCCCCTGGCCACACCCCGGGAGAGAGAGTTCCAGGTGCCAGCCTGTCCAAGTGATGGATGGTCCCTAGGCTGTGGTGGCCCAGAGGTCCTGGCAAAAGGGCCCTGTAGCCTCTAGTAAAGTATGAGAGGAGCATCGGCCACAGCAGGGGTGTACAGGCCATGGCGAGGACCGTCGGCCACAGCAG... | ACAGCACACCTGGGACCAACCCCTGGCCCCTCCCACCTGACAGTCAGCGGTCTCTGAACTGCCTGCATTTCATTACCACCCCTCACCCTGCCCCCACCAGAGTTTCAGCATGCAGCTCCTGCTGGCTGATTACAAGCCCCTGGCCACACCCCGGGAGAGAGAGTTCCAGGTGCCAGCCTGTCCAAGTGATGGATGGTCCCTAGGCTGTGGTGGCCCAGAGGTCCTGGCAAAAGGGCCCTGTAGCCTCTAGTAAAGTATGAGAGGAGCATCGGCCACAGCAGGGGTGTACAGGCCATGGCGAGGACCGTCGGCCACAGCAG... |
Task1_train_48159 | A mutation found on Chromosome 21 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Benign | GGGAATATTTTACTCATAATTTATTTCCTCTCCCTAGCAAGCACCGCAGAAGGATGTTTCCATGATTCTCCCTAATCCTTCCTCAGTTCCTGGTGCAGTTCCTGGAGGAAAAGCCTGCATGGGGGAGGGAGCCCTCCTCATGTGCAGCCCTGAGGCTGTGCCATCACCTCACCTACTATTGCCCTTCAGTCAGTTTTTAAACATTCCAAACTAATTTTCCTGAAATGTGTAGTATTTGGCAGTGTCTTTCCCAGATAAGAAAATACTTAAGTTCTGTTTATCCCTGCAGGCGCATATCCATTTCTGGAAGTCAGGTGGTT... | GGGAATATTTTACTCATAATTTATTTCCTCTCCCTAGCAAGCACCGCAGAAGGATGTTTCCATGATTCTCCCTAATCCTTCCTCAGTTCCTGGTGCAGTTCCTGGAGGAAAAGCCTGCATGGGGGAGGGAGCCCTCCTCATGTGCAGCCCTGAGGCTGTGCCATCACCTCACCTACTATTGCCCTTCAGTCAGTTTTTAAACATTCCAAACTAATTTTCCTGAAATGTGTAGTATTTGGCAGTGTCTTTCCCAGATAAGAAAATACTTAAGTTCTGTTTATCCCTGCAGGCGCATATCCATTTCTGGAAGTCAGGTGGTT... |
Task1_train_48160 | Chromosome 21 is altered by this variant. Does this mutation result in a disease or is it benign? | Benign | ATATCTGAAGCACCTTCACCTACTTCCAGGTGAGCACCAACAATGGCCCCAATTCACCTTCAAGTGGATTATTATCAAAGTACATCATTATGATACTATCAGGTCATGGCAAGTGTTATAAATTGTGTACGCACAAAAATTCATATTTTAAAACTCTAACCCCTAGTTCCTCAGAATGTGACTATACTTGGAGATAGGGCCCTTCAGTGGGTAATGAAGTCAAAATGAGACTGCTAGAGTGGGCCCTAATCTAATCTGAATGGTCCCCTTAAAAGAAGAGGAAATTTAGACATACTGAGACACCAGGGATGTGCATATAC... | ATATCTGAAGCACCTTCACCTACTTCCAGGTGAGCACCAACAATGGCCCCAATTCACCTTCAAGTGGATTATTATCAAAGTACATCATTATGATACTATCAGGTCATGGCAAGTGTTATAAATTGTGTACGCACAAAAATTCATATTTTAAAACTCTAACCCCTAGTTCCTCAGAATGTGACTATACTTGGAGATAGGGCCCTTCAGTGGGTAATGAAGTCAAAATGAGACTGCTAGAGTGGGCCCTAATCTAATCTGAATGGTCCCCTTAAAAGAAGAGGAAATTTAGACATACTGAGACACCAGGGATGTGCATATAC... |
Task1_train_48161 | Consider this mutation on Chromosome 21. Is this a benign change or a disease-causing variant? | Benign | CTCAAGTGATTTTCCCACCTCAGCCTCCTTAGCAGCTGGGACTACAGGCACGCACCATCATGCATGGCTAATTTTTTAAATTTTTTGTAGAGATAGGATTTTGCCTTGTTGCCCACGCTGGTCTCAAACTCTTGGCCTCTAGTGATCCTCCCGACTTGGCCTCTGAAAATGCTGGGATTACAGGCGTGAGCCACCACTCTTGGCCAATTTGTATACTTATAATTTAGATTTTATATTTATACTATAATTAGTATATTAACTTACACTTATATTTGATAAATATTTTAATATCTATCAACTCAATTATTTGCATTATCTGT... | CTCAAGTGATTTTCCCACCTCAGCCTCCTTAGCAGCTGGGACTACAGGCACGCACCATCATGCATGGCTAATTTTTTAAATTTTTTGTAGAGATAGGATTTTGCCTTGTTGCCCACGCTGGTCTCAAACTCTTGGCCTCTAGTGATCCTCCCGACTTGGCCTCTGAAAATGCTGGGATTACAGGCGTGAGCCACCACTCTTGGCCAATTTGTATACTTATAATTTAGATTTTATATTTATACTATAATTAGTATATTAACTTACACTTATATTTGATAAATATTTTAATATCTATCAACTCAATTATTTGCATTATCTGT... |
Task1_train_48162 | Consider a variant on Chromosome 21. Determine its clinical classification and disease relevance. | Benign | GTCTTCTTTAGCAGAGCTGAATATTCTCAAGTAAACTAACAATAGCTGACCCTCCTATCCCTTTTAGTTATATCAACCCTCTGAACATTGGAGAGTGGCCCCTCGGGACTGTCAAATAGCCAGGTTTATCTTTCAGAGCATTATTGCACCCCAGATAAAACAGTGTGCTCCTCATCTTCATTCACCCAACATTTCTACATCAGTGAAATGAGAAGTTAGGAAAGGAGGTGGTGAAATTAGATTGCCTGAATTTGCATGTTAGCTCTGCCACTTTATTAACGTCAATTAACAGTTTATTAACAGTCAGTTAACACTATTAA... | GTCTTCTTTAGCAGAGCTGAATATTCTCAAGTAAACTAACAATAGCTGACCCTCCTATCCCTTTTAGTTATATCAACCCTCTGAACATTGGAGAGTGGCCCCTCGGGACTGTCAAATAGCCAGGTTTATCTTTCAGAGCATTATTGCACCCCAGATAAAACAGTGTGCTCCTCATCTTCATTCACCCAACATTTCTACATCAGTGAAATGAGAAGTTAGGAAAGGAGGTGGTGAAATTAGATTGCCTGAATTTGCATGTTAGCTCTGCCACTTTATTAACGTCAATTAACAGTTTATTAACAGTCAGTTAACACTATTAA... |
Task1_train_48163 | Here is a variant on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder. | Benign | AGACTCTGTCTCAAAAGAAAAAAAAAAGATGTTTGCAGAATTGCATAATTTGAATAATTTCACTTAGTGAAGTATTTTTATATAATGTCATCAATCCCAAATAGATTGCTTTTGGACATGGATTTTTAAAGTAAATTTCTCCTTTTAATTAAAGACAAAACTATCCTTCTTGAGTATATACTTAGTCCTTCATGCACACATCACAGGGGAAGGATATCATAGCAATGAAGATTCTCAATTGGTCGAGTAAACTAAATTATTTCCAGAGACTACCAAAAATTGGTTTTGACCCAGAAATCTTAATTATGGACTTCATTGTT... | AGACTCTGTCTCAAAAGAAAAAAAAAAGATGTTTGCAGAATTGCATAATTTGAATAATTTCACTTAGTGAAGTATTTTTATATAATGTCATCAATCCCAAATAGATTGCTTTTGGACATGGATTTTTAAAGTAAATTTCTCCTTTTAATTAAAGACAAAACTATCCTTCTTGAGTATATACTTAGTCCTTCATGCACACATCACAGGGGAAGGATATCATAGCAATGAAGATTCTCAATTGGTCGAGTAAACTAAATTATTTCCAGAGACTACCAAAAATTGGTTTTGACCCAGAAATCTTAATTATGGACTTCATTGTT... |
Task1_train_48164 | A variant affecting Chromosome 21 has been observed. Determine if it's benign or associated with disease. | Benign | TTTAGGAATAGCAAATCATTCAGTTTGGCAGTTCGGCATAGGAAATCAATAAGGTGGGGGTAGTGCACAGATAAGACTGAAAAATTAGATTGAGTCCAGACTGATGAAATCCAGAAATGCCAAGTTAGGGAGTCCAGATTTTATTCTTGAAGAAAACTCTGACTATTTGTGTTCAGATGCCTATACAACAGCTTAGCCACTTGCCAAGGAGTCATCAGCCTTGATCCTGCTTCTGAAGATATCAGAGGGAGTCATCAGAAGCACGTCCTAATTATATTACCAGCTACTCTCCAAGAAGCTACTCTAAGAGAAAACCTGCA... | TTTAGGAATAGCAAATCATTCAGTTTGGCAGTTCGGCATAGGAAATCAATAAGGTGGGGGTAGTGCACAGATAAGACTGAAAAATTAGATTGAGTCCAGACTGATGAAATCCAGAAATGCCAAGTTAGGGAGTCCAGATTTTATTCTTGAAGAAAACTCTGACTATTTGTGTTCAGATGCCTATACAACAGCTTAGCCACTTGCCAAGGAGTCATCAGCCTTGATCCTGCTTCTGAAGATATCAGAGGGAGTCATCAGAAGCACGTCCTAATTATATTACCAGCTACTCTCCAAGAAGCTACTCTAAGAGAAAACCTGCA... |
Task1_train_48165 | A variant has been detected on Chromosome 21. What is its effect — pathogenic or benign? If pathogenic, name the disease. | Benign | CAGATAAGACTGAAAAATTAGATTGAGTCCAGACTGATGAAATCCAGAAATGCCAAGTTAGGGAGTCCAGATTTTATTCTTGAAGAAAACTCTGACTATTTGTGTTCAGATGCCTATACAACAGCTTAGCCACTTGCCAAGGAGTCATCAGCCTTGATCCTGCTTCTGAAGATATCAGAGGGAGTCATCAGAAGCACGTCCTAATTATATTACCAGCTACTCTCCAAGAAGCTACTCTAAGAGAAAACCTGCAAAGTGCAGCAGTCCCAGAAAAGAAGATGAAGATTAAAGAAGAAGGAGGATATTTAGAAATGATTAAT... | CAGATAAGACTGAAAAATTAGATTGAGTCCAGACTGATGAAATCCAGAAATGCCAAGTTAGGGAGTCCAGATTTTATTCTTGAAGAAAACTCTGACTATTTGTGTTCAGATGCCTATACAACAGCTTAGCCACTTGCCAAGGAGTCATCAGCCTTGATCCTGCTTCTGAAGATATCAGAGGGAGTCATCAGAAGCACGTCCTAATTATATTACCAGCTACTCTCCAAGAAGCTACTCTAAGAGAAAACCTGCAAAGTGCAGCAGTCCCAGAAAAGAAGATGAAGATTAAAGAAGAAGGAGGATATTTAGAAATGATTAAT... |
Task1_train_48166 | Here is a genetic alteration on Chromosome 21. Based on the data, is it a benign variant or a cause of disease? | Benign | TCCCATATGGCTATTGTAAGGGCTTCTTAAATTAAAGAAAGAAGCTTTCGTTTCTGCAGTAGGAAGTAACTCTTCTTTGGCTGTGACCTGTGAGACACTTTCAGCAGATGAAGCCTCCCTCCAAATGTCCTTGTCTTGTGTTTCTCGACTGGTAACAGAATTGCCTCCTTTTTGAAGCATGTAATATAGTATTGGGTTGGTTTTGGTCAATCTTGGAGAGTCTTTTTCATACTCATTCTTCTCCGCATCAGTGATAACCCACTTAATGGGTCCTTTCTCACTGGGCATGGAACACCCATTCAAAAGCCCAGATTCTGGTC... | TCCCATATGGCTATTGTAAGGGCTTCTTAAATTAAAGAAAGAAGCTTTCGTTTCTGCAGTAGGAAGTAACTCTTCTTTGGCTGTGACCTGTGAGACACTTTCAGCAGATGAAGCCTCCCTCCAAATGTCCTTGTCTTGTGTTTCTCGACTGGTAACAGAATTGCCTCCTTTTTGAAGCATGTAATATAGTATTGGGTTGGTTTTGGTCAATCTTGGAGAGTCTTTTTCATACTCATTCTTCTCCGCATCAGTGATAACCCACTTAATGGGTCCTTTCTCACTGGGCATGGAACACCCATTCAAAAGCCCAGATTCTGGTC... |
Task1_train_48167 | Here’s a variant located on Chromosome 21. What is the predicted biological effect — harmless or disease-causing? | Benign | AGGGAATAGGGAGGCCTGAGGGAGGGGTGAGAGATGGGGAGGATGTTGGGGGGGATGGCCAGAACACACACAACATTTATTAAGTTTGCTGTCTCTTATGGGCATCATTCATGGTGCCCCAAAACAGTTAAAATAGTAACATCAAAGATCACTGATCACAGATCACCCTAACAGGTATGATTATGAGAAAGTTTGAACTGTTGTGAGAATTTCCAAAATGCAACACAGACATGAAGTGAGCACATGCTGTTGGAAAAATGGTACTGGTGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTAGGGAGGCCGATA... | AGGGAATAGGGAGGCCTGAGGGAGGGGTGAGAGATGGGGAGGATGTTGGGGGGGATGGCCAGAACACACACAACATTTATTAAGTTTGCTGTCTCTTATGGGCATCATTCATGGTGCCCCAAAACAGTTAAAATAGTAACATCAAAGATCACTGATCACAGATCACCCTAACAGGTATGATTATGAGAAAGTTTGAACTGTTGTGAGAATTTCCAAAATGCAACACAGACATGAAGTGAGCACATGCTGTTGGAAAAATGGTACTGGTGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTAGGGAGGCCGATA... |
Task1_train_48168 | A mutation found on Chromosome 21 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Benign | GGCGCAGTGGCTCACACCTGTAATGCCAGCTCTTTGGGAGGCTGAGGCAGGAGGACTGTTTGAGCCCAGGAGCTCGAGATCAGCCTGGGCAACATGATGAAACCCCCTCCCTATAAAAAATAGAAAATTAGCTGGGTGTAATGACAGTAAGTCCCAGCTACTCGGGAGGATCACCACTGCACTGCAGCTAGGGTGATGAAGCAAGATTCTGTCGCAAAAAAAAAAAAAAAAGGAAAAATGTATTTCCTCTGCAGTTGAAAGTTGTTTCTTTCTTATTCTTTTTGCTCTGGAAACTCTAACAGGTTTGAATATCTCATTTC... | GGCGCAGTGGCTCACACCTGTAATGCCAGCTCTTTGGGAGGCTGAGGCAGGAGGACTGTTTGAGCCCAGGAGCTCGAGATCAGCCTGGGCAACATGATGAAACCCCCTCCCTATAAAAAATAGAAAATTAGCTGGGTGTAATGACAGTAAGTCCCAGCTACTCGGGAGGATCACCACTGCACTGCAGCTAGGGTGATGAAGCAAGATTCTGTCGCAAAAAAAAAAAAAAAAGGAAAAATGTATTTCCTCTGCAGTTGAAAGTTGTTTCTTTCTTATTCTTTTTGCTCTGGAAACTCTAACAGGTTTGAATATCTCATTTC... |
Task1_train_48169 | This variant lies on Chromosome 21. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Benign | GACATGTATTTCTAACACCCCAAGGAAGTCTCAATTAACTCCCCTTTTTTTCACCCTGTGGTGGGAGGTGGTGGTCTGAGTCTGCATATATCTCACAATAGGTTACAGAATCAGAATAGGCCGGGCGCGGTGGCTCACGCCTGTAACTCCAGCACTTTGGGAGGCGGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACACAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGGG... | GACATGTATTTCTAACACCCCAAGGAAGTCTCAATTAACTCCCCTTTTTTTCACCCTGTGGTGGGAGGTGGTGGTCTGAGTCTGCATATATCTCACAATAGGTTACAGAATCAGAATAGGCCGGGCGCGGTGGCTCACGCCTGTAACTCCAGCACTTTGGGAGGCGGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACACAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGGG... |
Task1_train_48170 | This is a variant located on Chromosome 21. Is this mutation a likely cause of disease or not? | Benign | AGTACAGAGCTTCATTTAGACAGGAGGAATAAGTTCATGAGATCTCTTGCACAGCACTGTGACTATAGTTAATAATAATGTATTGTATATTTCAAAATTTTGCAAAATTTCAAATTTTCTCATCATGAAATATGGTATTTAAGGTGATGGATAGGTTGATTAGCATAATTCAATCATTCCTCAATCTCTCTCTCTCTCTATATATATATACACACTTTTTAAATATGTATATACACATTCTCTGTATATACATTCTCTCTCCATACTTTCTATTAATATATATTATATATAATAACATCACATTGTAACCCATAAATATA... | AGTACAGAGCTTCATTTAGACAGGAGGAATAAGTTCATGAGATCTCTTGCACAGCACTGTGACTATAGTTAATAATAATGTATTGTATATTTCAAAATTTTGCAAAATTTCAAATTTTCTCATCATGAAATATGGTATTTAAGGTGATGGATAGGTTGATTAGCATAATTCAATCATTCCTCAATCTCTCTCTCTCTCTATATATATATACACACTTTTTAAATATGTATATACACATTCTCTGTATATACATTCTCTCTCCATACTTTCTATTAATATATATTATATATAATAACATCACATTGTAACCCATAAATATA... |
Task1_train_48171 | This sequence change occurs on Chromosome 21. What is the medical significance of this variant — is it benign or linked to a disease? | Benign | ATCACAAACTCTCTTCCCCCAGATGATCCAAATATAGGAAATCGTGAAAAAAAGTTTCAGCATATCTGTCAATTTGCTTGCCAGAACAGACCATCAGAAACCAATGCACATTCAAATAGAGATAGTAAGATGACAACTTTGGGGCCTGTTGGAGGATGGGCGGTGGGAGGAGGCAGAGAATGAGGAGAAATAACTAACAGGTGCTAGGCTTAATAACTGGGTGATAAAATAATCTATACAACAAACTCCCATGACACAAGTTTACCTATATAACAAACCTGTATATGTACCCTGAAAAGTTAAAAAATAAAAAATGAAAA... | ATCACAAACTCTCTTCCCCCAGATGATCCAAATATAGGAAATCGTGAAAAAAAGTTTCAGCATATCTGTCAATTTGCTTGCCAGAACAGACCATCAGAAACCAATGCACATTCAAATAGAGATAGTAAGATGACAACTTTGGGGCCTGTTGGAGGATGGGCGGTGGGAGGAGGCAGAGAATGAGGAGAAATAACTAACAGGTGCTAGGCTTAATAACTGGGTGATAAAATAATCTATACAACAAACTCCCATGACACAAGTTTACCTATATAACAAACCTGTATATGTACCCTGAAAAGTTAAAAAATAAAAAATGAAAA... |
Task1_train_48172 | A genetic alteration is present on Chromosome 21. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Benign | GTTTCCTTTTCCATTGCATCTTGAGCCCACCCATCTATGGTGAAAAGCAAACCCACCCTCCCTAGAAGTTGTTATATTCTGTGGGCTCTGCTACTCTAACATTCTCATATGAAAGGAGAGCACATGCTGAATCAGAACAACAAAACTCCATTCAAACACATTCCCCAACACCTACTAGCTGTGTGATTTGAGGCAAGTTATTTTTCCAAGCCTCGGTGTCGTAGTTATTTAAGGCGGAATAATTGCATCTCCCTCACAGTCATTTGGTGAGGAGTGAATAAGAAAATACATCTTACAGCTGGGCGCTGTGGCTCATGCCT... | GTTTCCTTTTCCATTGCATCTTGAGCCCACCCATCTATGGTGAAAAGCAAACCCACCCTCCCTAGAAGTTGTTATATTCTGTGGGCTCTGCTACTCTAACATTCTCATATGAAAGGAGAGCACATGCTGAATCAGAACAACAAAACTCCATTCAAACACATTCCCCAACACCTACTAGCTGTGTGATTTGAGGCAAGTTATTTTTCCAAGCCTCGGTGTCGTAGTTATTTAAGGCGGAATAATTGCATCTCCCTCACAGTCATTTGGTGAGGAGTGAATAAGAAAATACATCTTACAGCTGGGCGCTGTGGCTCATGCCT... |
Task1_train_48173 | This alteration on Chromosome 21 may affect genome function. Does it lead to a disease or is it benign? | Benign | CACTGCATCGCAGTGCCTGGTTGCTTATTGTAAAATAAATGCGCGTGCACACACACACACACACACACACACACGCTCTGACACAAAATAATTGTTGAATGGTTAAGTGAGATGATCCATCAATCTCCCAAAAGGCCAAAGGATTTAATGACTCTAAAAGTGTTCCATGACACAGTAGAAAGAATAGAAAGTTTTGGAATACTGGCCACCTCAAATGTGCTGTGAACTCTAATTGGATTCTAAATTTGACAATAAACGTCTAGTCAGGTGAGGCCACAAAAAATAACCTATAAATAATGACACATTATATAATTTCAATT... | CACTGCATCGCAGTGCCTGGTTGCTTATTGTAAAATAAATGCGCGTGCACACACACACACACACACACACACACGCTCTGACACAAAATAATTGTTGAATGGTTAAGTGAGATGATCCATCAATCTCCCAAAAGGCCAAAGGATTTAATGACTCTAAAAGTGTTCCATGACACAGTAGAAAGAATAGAAAGTTTTGGAATACTGGCCACCTCAAATGTGCTGTGAACTCTAATTGGATTCTAAATTTGACAATAAACGTCTAGTCAGGTGAGGCCACAAAAAATAACCTATAAATAATGACACATTATATAATTTCAATT... |
Task1_train_48174 | A variant found on Chromosome 21 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Benign | TTTTAATAATTAATATTAACTCCCGGATAAGCCAATCAGCTCTGGTCTGTTTCATCATCCCAGAATGCAATGCCAACTGTTAATGCCAATTAGATGTTCTGCAATTACACAGCTACTCACAAAAGTAGTCAAACTACAAGGTCTAAATTATCAACCACTACATAAACCCCGTAAAGTCAGGGATCATGTCTACTTTTGCTCACTCATCAGTATATCCAGAGTCTAGCACCAGGCCTGGAATATAGCAGGTGTTCAATAACAGTTTACTGAATGACTGCAAGCATGAATGACAAGAACGTCTCATTGCAGGGGTCATGCTG... | TTTTAATAATTAATATTAACTCCCGGATAAGCCAATCAGCTCTGGTCTGTTTCATCATCCCAGAATGCAATGCCAACTGTTAATGCCAATTAGATGTTCTGCAATTACACAGCTACTCACAAAAGTAGTCAAACTACAAGGTCTAAATTATCAACCACTACATAAACCCCGTAAAGTCAGGGATCATGTCTACTTTTGCTCACTCATCAGTATATCCAGAGTCTAGCACCAGGCCTGGAATATAGCAGGTGTTCAATAACAGTTTACTGAATGACTGCAAGCATGAATGACAAGAACGTCTCATTGCAGGGGTCATGCTG... |
Task1_train_48175 | A variant affecting Chromosome 21 has been observed. Determine if it's benign or associated with disease. | Benign | CCATTTACTGAGATGAGGAAAACTGAGGGAGGAGCGAGTTAAGATTAGGGTCATATTGTGAATGGGCTTAAAATTGATGAAATATTTTAATATGTATTACCTCATTTCACCTTCACAACAGTTTTATTAACCATATGATAATAATTACCAGTATTTCCACTTTACTTTTGAGAAATCTCCTGGTAAAGAAATTAGGTGACAATTCAAAGATCACATGTCTAAGGAATCATTGAGCCAAAGCTTGATTACAAATATTGCAGTATGAGATCAATGTTCTTTTTCATAAATCATATAAATTACTATGGCCTCCCTAGGTAATT... | CCATTTACTGAGATGAGGAAAACTGAGGGAGGAGCGAGTTAAGATTAGGGTCATATTGTGAATGGGCTTAAAATTGATGAAATATTTTAATATGTATTACCTCATTTCACCTTCACAACAGTTTTATTAACCATATGATAATAATTACCAGTATTTCCACTTTACTTTTGAGAAATCTCCTGGTAAAGAAATTAGGTGACAATTCAAAGATCACATGTCTAAGGAATCATTGAGCCAAAGCTTGATTACAAATATTGCAGTATGAGATCAATGTTCTTTTTCATAAATCATATAAATTACTATGGCCTCCCTAGGTAATT... |
Task1_train_48176 | This mutation occurs on Chromosome 21. Does this change lead to a known medical condition, or is it benign? | Benign | GTTGAAGTAGAATATACTTTATCAGGTTAATAGCTCTGTAGATGGTGGTATTTTCAGGTGATTTTTATGTTTTTACTTCTGTGTAATATTTTTGAATGAAAATGCATTATTTTCTAATAAAAACATGAGCTTTAAAAAATTTCATAAATTGACATTAGCTTGTTTTTCAATAACATATTATAAATATCTGAAGGCCAAGTTTCAGAGGTAATTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCAGACTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAATCTCTGCCTCCCGAGTTCAAATGATTCTCCTGCCTCA... | GTTGAAGTAGAATATACTTTATCAGGTTAATAGCTCTGTAGATGGTGGTATTTTCAGGTGATTTTTATGTTTTTACTTCTGTGTAATATTTTTGAATGAAAATGCATTATTTTCTAATAAAAACATGAGCTTTAAAAAATTTCATAAATTGACATTAGCTTGTTTTTCAATAACATATTATAAATATCTGAAGGCCAAGTTTCAGAGGTAATTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCAGACTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAATCTCTGCCTCCCGAGTTCAAATGATTCTCCTGCCTCA... |
Task1_train_48177 | Consider a variant on Chromosome 21. Determine its clinical classification and disease relevance. | Benign | CCACCCTATGAACCACAAGTGTTTCTCTACTCCAAATTTATCAACACTTTTCCTTCATACCAGGGGTGCCTTAGTAAAAATAGAAGAATTAGGTAGCGAAGCTGTGTGATTCTAAAGTCTGCAATCCATCATTTAATTTCCTATCCTTGTTCTGTTTGCTTCATTTCATACCATGATTTTACATAATACTTCAAAGTTTGTAATCCTTAATCTATTCTGGATGGGTCTCAAATACTTAAAGAATGAGCTTTAGAAGTCAATTCTTACCAGGCATTTAAGAGGCACAACTTAAAACTGCCAATCAGAGTCGAGTTGTGACA... | CCACCCTATGAACCACAAGTGTTTCTCTACTCCAAATTTATCAACACTTTTCCTTCATACCAGGGGTGCCTTAGTAAAAATAGAAGAATTAGGTAGCGAAGCTGTGTGATTCTAAAGTCTGCAATCCATCATTTAATTTCCTATCCTTGTTCTGTTTGCTTCATTTCATACCATGATTTTACATAATACTTCAAAGTTTGTAATCCTTAATCTATTCTGGATGGGTCTCAAATACTTAAAGAATGAGCTTTAGAAGTCAATTCTTACCAGGCATTTAAGAGGCACAACTTAAAACTGCCAATCAGAGTCGAGTTGTGACA... |
Task1_train_48178 | A mutation located on Chromosome 21 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Benign | TTGTAAGAAAAGTGCAAGTTAAGGAGCACAGAAGTATTTTGCCTTTCATATGTCTACCTGGTGCATGCTATTATTATTTTTGCCTATAAAAAGGTATTTGACATATATAAATTAAAAACCTACAAATTTAAAACTGCCACTTGAAAATGTGTGCTGTTAACTTCTTAAAACAATGGTTGTGCAGTTGTCATTTGTTGTTTTTACCTACTGAGGACCCACTGCCCCTTTCTTCTGATTTAATTTCCTTGACTTTTGTTAGGGAAGCTCTACCTCCCATCATTCTCAATCTAAGTGGCCTGAGTAGGGTTTATCCCAATCCA... | TTGTAAGAAAAGTGCAAGTTAAGGAGCACAGAAGTATTTTGCCTTTCATATGTCTACCTGGTGCATGCTATTATTATTTTTGCCTATAAAAAGGTATTTGACATATATAAATTAAAAACCTACAAATTTAAAACTGCCACTTGAAAATGTGTGCTGTTAACTTCTTAAAACAATGGTTGTGCAGTTGTCATTTGTTGTTTTTACCTACTGAGGACCCACTGCCCCTTTCTTCTGATTTAATTTCCTTGACTTTTGTTAGGGAAGCTCTACCTCCCATCATTCTCAATCTAAGTGGCCTGAGTAGGGTTTATCCCAATCCA... |
Task1_train_48179 | This is a variant located on Chromosome 21. Is this mutation a likely cause of disease or not? | Benign | TAAAATCAAGATGTCAACAGGAATTTGTAATCTCACTGAATTAACTCTCATCAGCACAAAATGTTTGAAACAACTCTACAGATCTGAGATTTTTTTAAATACCATTTAAAAAAGAAAAATTTTAAATTGCCATTCAAAATTCAATTGCCAAACAAAGCAACTGTGTCATAAACATGCAATCATACAAGCTAGCACGTATCATATAAATGTAAAATGGTAAGATTTTTAAAGTTACATTTTTTATGCTTGAACTTATTTACAAGAGTTGTCCTTTTGGAGACATTTTTAAAAAAATTATTACACCATTTCCAAATACAGAA... | TAAAATCAAGATGTCAACAGGAATTTGTAATCTCACTGAATTAACTCTCATCAGCACAAAATGTTTGAAACAACTCTACAGATCTGAGATTTTTTTAAATACCATTTAAAAAAGAAAAATTTTAAATTGCCATTCAAAATTCAATTGCCAAACAAAGCAACTGTGTCATAAACATGCAATCATACAAGCTAGCACGTATCATATAAATGTAAAATGGTAAGATTTTTAAAGTTACATTTTTTATGCTTGAACTTATTTACAAGAGTTGTCCTTTTGGAGACATTTTTAAAAAAATTATTACACCATTTCCAAATACAGAA... |
Task1_train_48180 | Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Benign | TCACGGCAGGTACATTCCTAAGTTGGAAATGGATACATTAGTCTACTCTTATCAAATTATTTGCACCCCCTGCTCTGAATCAAGGCTTATCAAGGAGCTTTCTGATAATTTAGCTCTTCATGTAACTTGGCTACAGGGAGAGAAGGCACTAGATAAACTAAGGCAAATAGTGTGCCTGATAAGTCATATTCCTCATTGAAAAATAATAAATATTCTGTATTTATTTTGTAAAAATAAAACTATGGGGAAAATGGGGAGTTACTGTTTAATGGATACAGGGTTTCAGTTTTGCAAGATGAATTAAGTTATGGAAACTGCAC... | TCACGGCAGGTACATTCCTAAGTTGGAAATGGATACATTAGTCTACTCTTATCAAATTATTTGCACCCCCTGCTCTGAATCAAGGCTTATCAAGGAGCTTTCTGATAATTTAGCTCTTCATGTAACTTGGCTACAGGGAGAGAAGGCACTAGATAAACTAAGGCAAATAGTGTGCCTGATAAGTCATATTCCTCATTGAAAAATAATAAATATTCTGTATTTATTTTGTAAAAATAAAACTATGGGGAAAATGGGGAGTTACTGTTTAATGGATACAGGGTTTCAGTTTTGCAAGATGAATTAAGTTATGGAAACTGCAC... |
Task1_train_48181 | An alteration has been detected on Chromosome 21. Is it pathogenic, and if so, what disease is involved? | Benign | TCTTCATGTAACTTGGCTACAGGGAGAGAAGGCACTAGATAAACTAAGGCAAATAGTGTGCCTGATAAGTCATATTCCTCATTGAAAAATAATAAATATTCTGTATTTATTTTGTAAAAATAAAACTATGGGGAAAATGGGGAGTTACTGTTTAATGGATACAGGGTTTCAGTTTTGCAAGATGAATTAAGTTATGGAAACTGCACAACGATGTAAATATACTTGATGCTACTGAACTGTACATTTAGAAATGGTTAAGATGGTAAATTTCATGCTATGTGTTTTTTTTACTACAATTTAAAAAATAGAAAAAAACTTGC... | TCTTCATGTAACTTGGCTACAGGGAGAGAAGGCACTAGATAAACTAAGGCAAATAGTGTGCCTGATAAGTCATATTCCTCATTGAAAAATAATAAATATTCTGTATTTATTTTGTAAAAATAAAACTATGGGGAAAATGGGGAGTTACTGTTTAATGGATACAGGGTTTCAGTTTTGCAAGATGAATTAAGTTATGGAAACTGCACAACGATGTAAATATACTTGATGCTACTGAACTGTACATTTAGAAATGGTTAAGATGGTAAATTTCATGCTATGTGTTTTTTTTACTACAATTTAAAAAATAGAAAAAAACTTGC... |
Task1_train_48182 | Here is a genetic alteration on Chromosome 21. Based on the data, is it a benign variant or a cause of disease? | Benign | ATAGCTGAACATGTGGAGGTTCCTGGAGAGTAGCGCACCCAGGGAGGGAGTGGAAGTTCTTCACCCCTTCCCGTATCTCACCGTGTGCATGTCTTCATTTGTATCCTTTGTAATATCATTTATAATAAACTGGTAAATTGTTTCTCTGAGTTCTGTGAGACAGTCTAGCAAATTAAGCAAACCCCAGGAGGGGGTCATGGGATCCCTGATTTAGATGTACAGCTGGTTGGTCAGAAGCCCAGGTAAAACAGCCTGGGGCTTGCGATTGGCATCAGAAGTGGGGAGCGGTCTTGTGGGACTGAGTCCTAAGCCAGTGAGAT... | ATAGCTGAACATGTGGAGGTTCCTGGAGAGTAGCGCACCCAGGGAGGGAGTGGAAGTTCTTCACCCCTTCCCGTATCTCACCGTGTGCATGTCTTCATTTGTATCCTTTGTAATATCATTTATAATAAACTGGTAAATTGTTTCTCTGAGTTCTGTGAGACAGTCTAGCAAATTAAGCAAACCCCAGGAGGGGGTCATGGGATCCCTGATTTAGATGTACAGCTGGTTGGTCAGAAGCCCAGGTAAAACAGCCTGGGGCTTGCGATTGGCATCAGAAGTGGGGAGCGGTCTTGTGGGACTGAGTCCTAAGCCAGTGAGAT... |
Task1_train_48183 | A variant was discovered on Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful. | Benign | TCTTTTTTTTTTTTTTTTTATTTTGAGATGGAGTTTTTGCTCTTGTTGCCCAGGCTAGAGTGCAGGCCCAGACGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTAATTAGCTGGGATTACAGATGTGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCCACCCCTGGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTAGCGAGTG... | TCTTTTTTTTTTTTTTTTTATTTTGAGATGGAGTTTTTGCTCTTGTTGCCCAGGCTAGAGTGCAGGCCCAGACGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTAATTAGCTGGGATTACAGATGTGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCCACCCCTGGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTAGCGAGTG... |
Task1_train_48184 | This mutation on Chromosome 21 may be significant. Is it associated with any clinical condition, or is it benign? | Benign | AAAACATTTTGAAAACTATAAAATAATACATAAATGTCAGAATTAGGTAGTATACAGTCTAAAGTAGTATAGAAATATTAACTTTTGAAAGAGATCATTTCTTTATCCAAATCTCTGAATTACACTTTTAAGTAATAGTCTCTGCAGAAAGTTAAGTTTTGTCAGTTATTGTTAATTTTGATTGTCAATACTTCATCAATCACACTTGAACTCTTTTGGTAGCATTTTTGGTTTATTAAATTGTCTTTGGGAGAGTAAACTTAGGAAATTTGTGGTTTCTATATACTGAATCCATGAAATATGAAACTAAGAATAATGTC... | AAAACATTTTGAAAACTATAAAATAATACATAAATGTCAGAATTAGGTAGTATACAGTCTAAAGTAGTATAGAAATATTAACTTTTGAAAGAGATCATTTCTTTATCCAAATCTCTGAATTACACTTTTAAGTAATAGTCTCTGCAGAAAGTTAAGTTTTGTCAGTTATTGTTAATTTTGATTGTCAATACTTCATCAATCACACTTGAACTCTTTTGGTAGCATTTTTGGTTTATTAAATTGTCTTTGGGAGAGTAAACTTAGGAAATTTGTGGTTTCTATATACTGAATCCATGAAATATGAAACTAAGAATAATGTC... |
Task1_train_48185 | A variant on Chromosome 21 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Benign | TCACCTTAATCACTATTTTTCTTATTTTTATTGCTAATCTTTGAAGATATTTACACTTGTGTGATCTTATCATTTAATATTACCAGTGTTTTAAATACAGTTTTATATTACCAGGGGCTTCACCTACTGACGTCTTGCTGGTGGTTTGTAGAACGGAGTGAAGGTTGGATATTCACATCCAGGCTTGAGATAGCCCTGATTTAATGTTTCAGAGTTACTAAGTGATCTTGTGAGGACAGAAATTTATTCTAATTGACCCTACAGCTAAATATATCAACATCATTGTAATCTATTTTATTTTATTACCATAAGGATGAAGA... | TCACCTTAATCACTATTTTTCTTATTTTTATTGCTAATCTTTGAAGATATTTACACTTGTGTGATCTTATCATTTAATATTACCAGTGTTTTAAATACAGTTTTATATTACCAGGGGCTTCACCTACTGACGTCTTGCTGGTGGTTTGTAGAACGGAGTGAAGGTTGGATATTCACATCCAGGCTTGAGATAGCCCTGATTTAATGTTTCAGAGTTACTAAGTGATCTTGTGAGGACAGAAATTTATTCTAATTGACCCTACAGCTAAATATATCAACATCATTGTAATCTATTTTATTTTATTACCATAAGGATGAAGA... |
Task1_train_48186 | Here’s a variant located on Chromosome 21. What is the predicted biological effect — harmless or disease-causing? | Benign | ACTTTCCTTGAGAGAAAGAGTGTTGAGCTATGAGTCCAGGCAGCCTTTTTATAAATCTCCTGATTCTATTGAGTAATCAATGAATTGTTCTGAGATAGCCTCATCTTTGAATTGAACTAATAACATTATCAGTCTCATAAAAGATTTAATAACAATTCATATAAGCAGTAGAGGTCCTAGCATGTAATACATGCCCCCAGAACATTAGACAATATTATTTATTATTTCTCAGAAGTAGAAATATATATTTAGCTACAGAAAATTTTTCAAACCTGGCTGTTATATACATAATATTTATAACATATAGATTTGCTTGAATT... | ACTTTCCTTGAGAGAAAGAGTGTTGAGCTATGAGTCCAGGCAGCCTTTTTATAAATCTCCTGATTCTATTGAGTAATCAATGAATTGTTCTGAGATAGCCTCATCTTTGAATTGAACTAATAACATTATCAGTCTCATAAAAGATTTAATAACAATTCATATAAGCAGTAGAGGTCCTAGCATGTAATACATGCCCCCAGAACATTAGACAATATTATTTATTATTTCTCAGAAGTAGAAATATATATTTAGCTACAGAAAATTTTTCAAACCTGGCTGTTATATACATAATATTTATAACATATAGATTTGCTTGAATT... |
Task1_train_48187 | A variant was discovered on Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful. | Benign | TATTGAGTAATCAATGAATTGTTCTGAGATAGCCTCATCTTTGAATTGAACTAATAACATTATCAGTCTCATAAAAGATTTAATAACAATTCATATAAGCAGTAGAGGTCCTAGCATGTAATACATGCCCCCAGAACATTAGACAATATTATTTATTATTTCTCAGAAGTAGAAATATATATTTAGCTACAGAAAATTTTTCAAACCTGGCTGTTATATACATAATATTTATAACATATAGATTTGCTTGAATTTATAGTACTATCTTAAATTATAAATATATTATCTGCATTGAATATTGGTATAGGGATCCAATGATT... | TATTGAGTAATCAATGAATTGTTCTGAGATAGCCTCATCTTTGAATTGAACTAATAACATTATCAGTCTCATAAAAGATTTAATAACAATTCATATAAGCAGTAGAGGTCCTAGCATGTAATACATGCCCCCAGAACATTAGACAATATTATTTATTATTTCTCAGAAGTAGAAATATATATTTAGCTACAGAAAATTTTTCAAACCTGGCTGTTATATACATAATATTTATAACATATAGATTTGCTTGAATTTATAGTACTATCTTAAATTATAAATATATTATCTGCATTGAATATTGGTATAGGGATCCAATGATT... |
Task1_train_48188 | A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | ATATTGGGGTTTCTTCCCCATCTTTCCAGACTTCAGTTACACCCATCTCTGGGGATCATTTTATTTTTCTTTAAATATGATTTGCTTTTTATTTACAAAAATGCTTAGGGTATTTATCATGTTGTTTTCACCACTCAAATAGATGATTTTATTTTCATTTTTTGGGTAATAACTTACAGAGGTTAAATGACTTCTAGGAGGTTCAATATTAAATTTATTTAACTGCTGAAACCTTATCTACAAAACCAATAAATACACATACTGTGCTGAGAAATAAACGTATGTTTAATACTCTATGTACTCTTTATTAAATTGATTTA... | ATATTGGGGTTTCTTCCCCATCTTTCCAGACTTCAGTTACACCCATCTCTGGGGATCATTTTATTTTTCTTTAAATATGATTTGCTTTTTATTTACAAAAATGCTTAGGGTATTTATCATGTTGTTTTCACCACTCAAATAGATGATTTTATTTTCATTTTTTGGGTAATAACTTACAGAGGTTAAATGACTTCTAGGAGGTTCAATATTAAATTTATTTAACTGCTGAAACCTTATCTACAAAACCAATAAATACACATACTGTGCTGAGAAATAAACGTATGTTTAATACTCTATGTACTCTTTATTAAATTGATTTA... |
Task1_train_48189 | This mutation occurs on Chromosome 21. Does this change lead to a known medical condition, or is it benign? | Benign | ACAGCATAGGAAATATAGTTTTGTGTAGCTGATGTTTTGATGTTAACCTTTATCATTATCATCAGCCTATAATATTTGTTAGTATTATTATTTTTTATTGTCATTGGATCTCATCTAAAACTTACTGCATTTTGTATGTGTACATCAAAAGCAAGAAGAAAGAAAAAATAAAGAAGGAAGGAAGCAAGAAAGGAAGGGATGGAGGGAGGGAAGAAGGAAGGGAGAGGAAGAAGGAAGGAGGGAGGGAGGAAAAATGGAAGGAAAGAGAGAGGAAAGAAGGAAGAAAGGAAGGAAGGAAGGAAAAAGGAAGGAAAGAACAT... | ACAGCATAGGAAATATAGTTTTGTGTAGCTGATGTTTTGATGTTAACCTTTATCATTATCATCAGCCTATAATATTTGTTAGTATTATTATTTTTTATTGTCATTGGATCTCATCTAAAACTTACTGCATTTTGTATGTGTACATCAAAAGCAAGAAGAAAGAAAAAATAAAGAAGGAAGGAAGCAAGAAAGGAAGGGATGGAGGGAGGGAAGAAGGAAGGGAGAGGAAGAAGGAAGGAGGGAGGGAGGAAAAATGGAAGGAAAGAGAGAGGAAAGAAGGAAGAAAGGAAGGAAGGAAGGAAAAAGGAAGGAAAGAACAT... |
Task1_train_48190 | Here is a mutation located on Chromosome 21. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Benign | AAATTCAGGCTGAGCCAATGTGTGATTAGGGTAAGAGGCACAGAGAGGGCCGGGGAAAGGCTTCAAAAAATAGGGGATACAGATGTCACAAAATCAAAATATCCAGGAGAGCAAGCAAATAAGGCAAATAATGAACCAGAATGAAATTAACAACAGTGGCATGATCATGATAGTAAGTGGAACTGGCATTCTGCTTCATTGTCAGGAAGTCTCTAGGGCAAGATTGAACTGAGAACCAGAAGTGTGTGCCCTGTCTAAAGGGAACAGCTGGGAGTTACTGCGAGCTGCCTGCCAATCACTTTCTTGCACAGTGATACAGT... | AAATTCAGGCTGAGCCAATGTGTGATTAGGGTAAGAGGCACAGAGAGGGCCGGGGAAAGGCTTCAAAAAATAGGGGATACAGATGTCACAAAATCAAAATATCCAGGAGAGCAAGCAAATAAGGCAAATAATGAACCAGAATGAAATTAACAACAGTGGCATGATCATGATAGTAAGTGGAACTGGCATTCTGCTTCATTGTCAGGAAGTCTCTAGGGCAAGATTGAACTGAGAACCAGAAGTGTGTGCCCTGTCTAAAGGGAACAGCTGGGAGTTACTGCGAGCTGCCTGCCAATCACTTTCTTGCACAGTGATACAGT... |
Task1_train_48191 | This variant is located on Chromosome 21. Evaluate its biological effect and specify any disease association. | Benign | ACTACCTCCCCCATACCAAGTCTCTGAGCTAGCTGAGTTGCTAAATATGCTATATACATGGTAATTTTTTAAGCCTTACACTTTCAATTTATTAACTTATTAAGGCTCACAGTAGCCCTATTATTATCCTTCACTTTTGAAGTTGAAGAAACTGAGGTGGTTAAATAACTTGCACACAGTCACACAGTTGGAACTTAAACAGCCATCACTAAGCAAAGCTAAGATTCCAGCTCAAGGAAATCCATATTCAGAGTTCATGCTCTCAACCACTACCTTATTTTGCCCTGAAAAAATGTGAGATCCAAGGCCAGGCATGGTGG... | ACTACCTCCCCCATACCAAGTCTCTGAGCTAGCTGAGTTGCTAAATATGCTATATACATGGTAATTTTTTAAGCCTTACACTTTCAATTTATTAACTTATTAAGGCTCACAGTAGCCCTATTATTATCCTTCACTTTTGAAGTTGAAGAAACTGAGGTGGTTAAATAACTTGCACACAGTCACACAGTTGGAACTTAAACAGCCATCACTAAGCAAAGCTAAGATTCCAGCTCAAGGAAATCCATATTCAGAGTTCATGCTCTCAACCACTACCTTATTTTGCCCTGAAAAAATGTGAGATCCAAGGCCAGGCATGGTGG... |
Task1_train_48192 | This sequence change occurs on Chromosome 21. What is the medical significance of this variant — is it benign or linked to a disease? | Benign | CCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGCTTTTTGATGTGTTGCTTGATTTGGTTTGCCAGTATTGTAAATCTTTGTATGAGAGTGCCAGAAGTCTTATTTTATTTCAATTATTTTATTTAGTTTAAACCTAAAGAAGACTTTATTGACCCATATGATCAAAGCACTTAAAGGATGAATAAAGCTGGCTTAAGGTACATGGGAATCAGAGGCTTCTGTGTTGCCAGGAGTTTCTTCCCGTGTTTCCCTTCTCTATTCTTCTAGTTTCTGTGGCGGCAGGTTTCTATGATCAGAGGATGTGGTTCCCACACTT... | CCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGCTTTTTGATGTGTTGCTTGATTTGGTTTGCCAGTATTGTAAATCTTTGTATGAGAGTGCCAGAAGTCTTATTTTATTTCAATTATTTTATTTAGTTTAAACCTAAAGAAGACTTTATTGACCCATATGATCAAAGCACTTAAAGGATGAATAAAGCTGGCTTAAGGTACATGGGAATCAGAGGCTTCTGTGTTGCCAGGAGTTTCTTCCCGTGTTTCCCTTCTCTATTCTTCTAGTTTCTGTGGCGGCAGGTTTCTATGATCAGAGGATGTGGTTCCCACACTT... |
Task1_train_48193 | A mutation has occurred on Chromosome 21. What is the medical relevance of this mutation? | Benign | GCCTAATAAATAAGAATTGTTTATTCCAGAAACACAGAACAAACTATGTTACTTAATAAATGAAACATGATTGGAGATCAATTTGTCTCCTCAAAAGTTTAGACTTATAAAGTCTACAATTTGGAAGGAAGTTGAGCAATTATCTCCAGCCTCCTGTCAGATTGGAATTCCACTTACAACATCCTAATTAGATTTTCCCAGGGCCCTCAGTATGGAAATATCATTAATTGCAAGAGCAACTCATTTTAGATTTTTAGCTGAATCTTCCCCTAAAACTTTTACCTAGTAATCCTGATTCTTCATAGAAGGGAGTCTCAGTT... | GCCTAATAAATAAGAATTGTTTATTCCAGAAACACAGAACAAACTATGTTACTTAATAAATGAAACATGATTGGAGATCAATTTGTCTCCTCAAAAGTTTAGACTTATAAAGTCTACAATTTGGAAGGAAGTTGAGCAATTATCTCCAGCCTCCTGTCAGATTGGAATTCCACTTACAACATCCTAATTAGATTTTCCCAGGGCCCTCAGTATGGAAATATCATTAATTGCAAGAGCAACTCATTTTAGATTTTTAGCTGAATCTTCCCCTAAAACTTTTACCTAGTAATCCTGATTCTTCATAGAAGGGAGTCTCAGTT... |
Task1_train_48194 | This mutation is located on Chromosome 21. Is it associated with a disease or is it a benign polymorphism? | Benign | TGATATCTTTGTCACTGTGCAAACAAGCAACATTAGCATGTTAGAGTAAACAAATATTGTTACATATGTGAGGACAGATTTTGGGATTGACTTTCATAGAAGCCCATAAGGGTCACGTGTTCATTGCAGCAATGTTGTGCTGAAGAAGAGCTGGGTGTGATTATGTGTGCATCACCGAGATAGCAAAAGGCAAAATCTTGTGTATTAGCCACGTGAAGTATCATATGGCAATGAGAAATAATAGTCTAAATGTACACGTAGTAGCATAAATGAATCATTCACTGCAATTGTGCTGAAAGAAAAGGGGTTTTAAAAAATAT... | TGATATCTTTGTCACTGTGCAAACAAGCAACATTAGCATGTTAGAGTAAACAAATATTGTTACATATGTGAGGACAGATTTTGGGATTGACTTTCATAGAAGCCCATAAGGGTCACGTGTTCATTGCAGCAATGTTGTGCTGAAGAAGAGCTGGGTGTGATTATGTGTGCATCACCGAGATAGCAAAAGGCAAAATCTTGTGTATTAGCCACGTGAAGTATCATATGGCAATGAGAAATAATAGTCTAAATGTACACGTAGTAGCATAAATGAATCATTCACTGCAATTGTGCTGAAAGAAAAGGGGTTTTAAAAAATAT... |
Task1_train_48195 | Assess the clinical impact of this variant found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable. | Benign | GTGATGAGTACCTCTTGAATGAATAAATCTCGAAGACAGTCAGCTTCTCATATCAAAAACACCTCTGCTTAGTTGTTTTTACAACTGTAAATATCTTAACACAGTGGCCACAGCCCAATAATACCTGATGCATGCATGAATGAACTTTACATTGGACAATACAATATTTTGCACCCATAAAGCAGAGATTTAACAAGTAAAGTCAATGAACAATTAATCAAGCACCTTCTCTCAGGCAGAGGTGCAATAAATACATGATATGTGAATGAATGAGTTTTAATTCAAACATAAAGTGTTTTGCTTCAATAAAGCAGAGATTT... | GTGATGAGTACCTCTTGAATGAATAAATCTCGAAGACAGTCAGCTTCTCATATCAAAAACACCTCTGCTTAGTTGTTTTTACAACTGTAAATATCTTAACACAGTGGCCACAGCCCAATAATACCTGATGCATGCATGAATGAACTTTACATTGGACAATACAATATTTTGCACCCATAAAGCAGAGATTTAACAAGTAAAGTCAATGAACAATTAATCAAGCACCTTCTCTCAGGCAGAGGTGCAATAAATACATGATATGTGAATGAATGAGTTTTAATTCAAACATAAAGTGTTTTGCTTCAATAAAGCAGAGATTT... |
Task1_train_48196 | This sequence variant lies on Chromosome 21. Is it clinically significant, and what condition might it cause if any? | Benign | GAAGACAGTCAGCTTCTCATATCAAAAACACCTCTGCTTAGTTGTTTTTACAACTGTAAATATCTTAACACAGTGGCCACAGCCCAATAATACCTGATGCATGCATGAATGAACTTTACATTGGACAATACAATATTTTGCACCCATAAAGCAGAGATTTAACAAGTAAAGTCAATGAACAATTAATCAAGCACCTTCTCTCAGGCAGAGGTGCAATAAATACATGATATGTGAATGAATGAGTTTTAATTCAAACATAAAGTGTTTTGCTTCAATAAAGCAGAGATTTTTCAGTAAGCAAGACAGGGAGCATTTTCTTT... | GAAGACAGTCAGCTTCTCATATCAAAAACACCTCTGCTTAGTTGTTTTTACAACTGTAAATATCTTAACACAGTGGCCACAGCCCAATAATACCTGATGCATGCATGAATGAACTTTACATTGGACAATACAATATTTTGCACCCATAAAGCAGAGATTTAACAAGTAAAGTCAATGAACAATTAATCAAGCACCTTCTCTCAGGCAGAGGTGCAATAAATACATGATATGTGAATGAATGAGTTTTAATTCAAACATAAAGTGTTTTGCTTCAATAAAGCAGAGATTTTTCAGTAAGCAAGACAGGGAGCATTTTCTTT... |
Task1_train_48197 | Mutation context: Chromosome 21. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Benign | CTCCATTTTGTGTAAAAATCATCTGCTTTTGTATCTCCTTGAGCAACTCTGAAAAGAAAATCAAGATGTTTTTCTGGACAGAACAAATGAGAAGGGCAAAAGCAAACCAGTTGGTAGCCAGTCTTCACTTCCTTAAAAAAAAAAAAAATGGCAAAAGGACTTAGCATGTCAACCTCCACCTATCCAGATGGTTTGATTTATTTAGTACACGAGTTCCAGGGAAGAACGAGCAAGAAGTATGACTAAGTATTAATATAAGCCAACAGGTTTTTAAGCTTCTTTTTAAGTCTCTCCTGCCCAGATTTACTAAAACACAGAGC... | CTCCATTTTGTGTAAAAATCATCTGCTTTTGTATCTCCTTGAGCAACTCTGAAAAGAAAATCAAGATGTTTTTCTGGACAGAACAAATGAGAAGGGCAAAAGCAAACCAGTTGGTAGCCAGTCTTCACTTCCTTAAAAAAAAAAAAAATGGCAAAAGGACTTAGCATGTCAACCTCCACCTATCCAGATGGTTTGATTTATTTAGTACACGAGTTCCAGGGAAGAACGAGCAAGAAGTATGACTAAGTATTAATATAAGCCAACAGGTTTTTAAGCTTCTTTTTAAGTCTCTCCTGCCCAGATTTACTAAAACACAGAGC... |
Task1_train_48198 | This alteration occurs on Chromosome 21. Is it associated with a disease or is it a benign variant? | Benign | GCCAGTCTTCACTTCCTTAAAAAAAAAAAAAATGGCAAAAGGACTTAGCATGTCAACCTCCACCTATCCAGATGGTTTGATTTATTTAGTACACGAGTTCCAGGGAAGAACGAGCAAGAAGTATGACTAAGTATTAATATAAGCCAACAGGTTTTTAAGCTTCTTTTTAAGTCTCTCCTGCCCAGATTTACTAAAACACAGAGCTTTAATTTTCTCAGGGCTCTGACTCGAACAGTCAATTGGTATCCCTCGTTGGCAGATTCTACTAATCCACTACCATGAGTGAGGTGGGTATAAAGCTAGAGCCACTCTTTTGATGT... | GCCAGTCTTCACTTCCTTAAAAAAAAAAAAAATGGCAAAAGGACTTAGCATGTCAACCTCCACCTATCCAGATGGTTTGATTTATTTAGTACACGAGTTCCAGGGAAGAACGAGCAAGAAGTATGACTAAGTATTAATATAAGCCAACAGGTTTTTAAGCTTCTTTTTAAGTCTCTCCTGCCCAGATTTACTAAAACACAGAGCTTTAATTTTCTCAGGGCTCTGACTCGAACAGTCAATTGGTATCCCTCGTTGGCAGATTCTACTAATCCACTACCATGAGTGAGGTGGGTATAAAGCTAGAGCCACTCTTTTGATGT... |
Task1_train_48199 | An alteration has been detected on Chromosome 21. Is it pathogenic, and if so, what disease is involved? | Benign | GTGTCCACTGAGCAAAATGCACTTCCTATGTAAGCTAAAGAGAGAAACCCATAGGTAAGAAGTTTCTTAATTCATGTTTTTCACTTGATTTTCTTTGTGGTTACTGTTTAACTTTCTTTAGGTCTTATTCTTTCAGATACGATTAGATTTGTGACTAACAATACTAATAACATGTATATATCCTAAAGTTGAGGCTTAGACACATTAGGAGAAACTTTCCTAATCTCCTAAATTTTGGAATAGAAACTCACCACTCCCTTCTCAAAGACCTCCCTTCCCCACCTATGTCTCTATTATGGGCTGCTATATTTTGAGTTTCT... | GTGTCCACTGAGCAAAATGCACTTCCTATGTAAGCTAAAGAGAGAAACCCATAGGTAAGAAGTTTCTTAATTCATGTTTTTCACTTGATTTTCTTTGTGGTTACTGTTTAACTTTCTTTAGGTCTTATTCTTTCAGATACGATTAGATTTGTGACTAACAATACTAATAACATGTATATATCCTAAAGTTGAGGCTTAGACACATTAGGAGAAACTTTCCTAATCTCCTAAATTTTGGAATAGAAACTCACCACTCCCTTCTCAAAGACCTCCCTTCCCCACCTATGTCTCTATTATGGGCTGCTATATTTTGAGTTTCT... |
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