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_33700 | With a mutation on Chromosome 1, classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Benign | ATAAATAGCACTGATGATAGGGAAAGACTTCTGTAATTAACTGAAATGTGTTGTCATTCTTACCTACAGAAGCCAGGTTCCTGCAGGTTTCCTGCATCACTTCTCTGTAGAGATTCTTCTGAGAAGAATCTAGCAAAGCCCATTCCTCCTGGGTAAAGTTCACAGCCACATCCTCAAAAGCCACCGAGTCCTAGAACATTCCACACATGTGGATAGAAGGATGGGTGAGACTGACAGCACTGGGAATCTATACTCAATTCATAAGCTGTTTACATGATTTGATAATTTCCAAGCATTTATTCTATGACTTGATTGTCACA... | ATAAATAGCACTGATGATAGGGAAAGACTTCTGTAATTAACTGAAATGTGTTGTCATTCTTACCTACAGAAGCCAGGTTCCTGCAGGTTTCCTGCATCACTTCTCTGTAGAGATTCTTCTGAGAAGAATCTAGCAAAGCCCATTCCTCCTGGGTAAAGTTCACAGCCACATCCTCAAAAGCCACCGAGTCCTAGAACATTCCACACATGTGGATAGAAGGATGGGTGAGACTGACAGCACTGGGAATCTATACTCAATTCATAAGCTGTTTACATGATTTGATAATTTCCAAGCATTTATTCTATGACTTGATTGTCACA... |
Task1_train_33701 | This sequence change occurs on Chromosome 1. What is the medical significance of this variant — is it benign or linked to a disease? | Benign | CATTTTACTGGTTAGGGCCCGAGAAGGAGTTTGGATACCTGTTTTCCTCAATAGACCTTGGGAGGCCTGTCCCTCCATACATATTATCACTGAAGTACTAAAAGGAATACTTAATAGATCAAAGAGATTCCTATTTACTTTAATAGCTGTGGTCCTGGGCCTTGCTGGTGTTGCTTTGCACTCTTCTATTCAAACTGCGGACTTTGTGGGTAGTTGGCAGAAAAATTATTCTAAGCTTTGGAATTCCCAAAGCCAAATAGATCAAAAATTGGCAAATCAAATTAATGATCTCCGTCAAACAGTAATTTGGATGGGAGATC... | CATTTTACTGGTTAGGGCCCGAGAAGGAGTTTGGATACCTGTTTTCCTCAATAGACCTTGGGAGGCCTGTCCCTCCATACATATTATCACTGAAGTACTAAAAGGAATACTTAATAGATCAAAGAGATTCCTATTTACTTTAATAGCTGTGGTCCTGGGCCTTGCTGGTGTTGCTTTGCACTCTTCTATTCAAACTGCGGACTTTGTGGGTAGTTGGCAGAAAAATTATTCTAAGCTTTGGAATTCCCAAAGCCAAATAGATCAAAAATTGGCAAATCAAATTAATGATCTCCGTCAAACAGTAATTTGGATGGGAGATC... |
Task1_train_33702 | Given a variant located on Chromosome 1, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Benign | GCAAGGATGGTCTCGATCTCCTGACTTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCCAGCCCCTAATAACTGCACCCAGCCCCTAATAACCTTTTTTAATCTTAGTGAAGTTGTATGTTTCATACACAAATTTTGTCACATGGCCTATGATAACAGAGTTATAAATTAAGTATATGCAAAGTTATGCATTGTGTAGAAATAAAATAATAATGCAATATTCATTTATAGTGATTTTGACTCCTCAAAATATTTATTATATATAATATTGATTTTGTAACTATAACATTAATATTCTAT... | GCAAGGATGGTCTCGATCTCCTGACTTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCCAGCCCCTAATAACTGCACCCAGCCCCTAATAACCTTTTTTAATCTTAGTGAAGTTGTATGTTTCATACACAAATTTTGTCACATGGCCTATGATAACAGAGTTATAAATTAAGTATATGCAAAGTTATGCATTGTGTAGAAATAAAATAATAATGCAATATTCATTTATAGTGATTTTGACTCCTCAAAATATTTATTATATATAATATTGATTTTGTAACTATAACATTAATATTCTAT... |
Task1_train_33703 | A change on Chromosome 1 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Benign | GGTCGCTGTGGGGCTCTACCGGCAGCTGCTCCTGCTCCTGGTCCAGAGGGCTGTCCCCATCATCAATCACCACAGGGTCTTCACAGTGCTTGAGCTGCAATCCCAGAGACAGCTTTTCAGGGCTAGGGGAAGAGGTCCCATCTCTCCCTGGGCCTGGTGACCATCCACTCCACAGCTGACCATCAAAGGCTCAACTTAGGCCTTGGACTGGGCTGTAAAGGGGCACGACACTATCATGCCCAAATTAGAGCCTTCAGGGAGTAAAACTGGCTTTCTTAGGAAACTCTAGTCTGGACCTAACCAAAGTAAATGGCTCTCGA... | GGTCGCTGTGGGGCTCTACCGGCAGCTGCTCCTGCTCCTGGTCCAGAGGGCTGTCCCCATCATCAATCACCACAGGGTCTTCACAGTGCTTGAGCTGCAATCCCAGAGACAGCTTTTCAGGGCTAGGGGAAGAGGTCCCATCTCTCCCTGGGCCTGGTGACCATCCACTCCACAGCTGACCATCAAAGGCTCAACTTAGGCCTTGGACTGGGCTGTAAAGGGGCACGACACTATCATGCCCAAATTAGAGCCTTCAGGGAGTAAAACTGGCTTTCTTAGGAAACTCTAGTCTGGACCTAACCAAAGTAAATGGCTCTCGA... |
Task1_train_33704 | Chromosome 1 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Benign | ACACTATCATGCCCAAATTAGAGCCTTCAGGGAGTAAAACTGGCTTTCTTAGGAAACTCTAGTCTGGACCTAACCAAAGTAAATGGCTCTCGATGGAACTCCTCATTCCCCAGCCAGCACATGCATGGCCCAGCCAAAGTGTCTAAGTACCAGATCTCTACCCGTCCCAGCCCCACCTCTTCTACTCACCCACTGCCAGGGTCTCCCGGGCTCCCGTTCCAGTGCCTCCACCGCGGCCACAGCCTGCTCTCCGCTCTCAGGCTCCTGCGCCCGCACCCAGCTCTGGATCTCCCGGGGCAGGATGGCCAGGAACTGCTCCA... | ACACTATCATGCCCAAATTAGAGCCTTCAGGGAGTAAAACTGGCTTTCTTAGGAAACTCTAGTCTGGACCTAACCAAAGTAAATGGCTCTCGATGGAACTCCTCATTCCCCAGCCAGCACATGCATGGCCCAGCCAAAGTGTCTAAGTACCAGATCTCTACCCGTCCCAGCCCCACCTCTTCTACTCACCCACTGCCAGGGTCTCCCGGGCTCCCGTTCCAGTGCCTCCACCGCGGCCACAGCCTGCTCTCCGCTCTCAGGCTCCTGCGCCCGCACCCAGCTCTGGATCTCCCGGGGCAGGATGGCCAGGAACTGCTCCA... |
Task1_train_33705 | This variant lies on Chromosome 1. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Benign | CGGAGCCGAAGTCACTGTTCTTGTTATTAAGACCTTTACAAATGGAGCTGGAATGACAAAGACATGCATCGGATGAGCCTTCAAGCACATCCAGGAATGGAAAATCCACCCTTCTGGTGGCAGAGGGCTGATGGTGCTGCGTGCTGGATGGACAACCCAGCCAGAATCAGCTTTGCCCAGCAGAGTCTGCAATGGGAGGCAAGGGAAAACATCACATGAGACAGCTACATGCAGTCTACCAGGGACAAATAACACTGCATCTAGAAGTATCAGTGGTTTCCTATGAGCCTTCTGCCAATTCTGCCCTGACCTTCAACCTC... | CGGAGCCGAAGTCACTGTTCTTGTTATTAAGACCTTTACAAATGGAGCTGGAATGACAAAGACATGCATCGGATGAGCCTTCAAGCACATCCAGGAATGGAAAATCCACCCTTCTGGTGGCAGAGGGCTGATGGTGCTGCGTGCTGGATGGACAACCCAGCCAGAATCAGCTTTGCCCAGCAGAGTCTGCAATGGGAGGCAAGGGAAAACATCACATGAGACAGCTACATGCAGTCTACCAGGGACAAATAACACTGCATCTAGAAGTATCAGTGGTTTCCTATGAGCCTTCTGCCAATTCTGCCCTGACCTTCAACCTC... |
Task1_train_33706 | A mutation is present on Chromosome 1. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | GGTTGAAAATTCAGGAATATGTAAAACTTTTTGGTATTTAATTAAATTGATTCCTTTTCTTAATTTTAAAAAAGAGTACCTAGAAATTTTTCAAATTATTTCTCTAAACCACTAAAGATAAATTAAATTGTTTGGTGCATTTTAAAAGTCACTTTGGCAAATGATTCCATTGTAGATAATTTTTAAAACGTTACCTCACTCTAACTGTAATGAGTGGAATTTCATCTTTGATAGGATAGGAGATTGAAAATCGTGGAGGGAAAGGTTTGAGAGTATCAGAGCCTGCGCTCCTAACTAGAAGTATTATGTAGAAGATGCAT... | GGTTGAAAATTCAGGAATATGTAAAACTTTTTGGTATTTAATTAAATTGATTCCTTTTCTTAATTTTAAAAAAGAGTACCTAGAAATTTTTCAAATTATTTCTCTAAACCACTAAAGATAAATTAAATTGTTTGGTGCATTTTAAAAGTCACTTTGGCAAATGATTCCATTGTAGATAATTTTTAAAACGTTACCTCACTCTAACTGTAATGAGTGGAATTTCATCTTTGATAGGATAGGAGATTGAAAATCGTGGAGGGAAAGGTTTGAGAGTATCAGAGCCTGCGCTCCTAACTAGAAGTATTATGTAGAAGATGCAT... |
Task1_train_33707 | Here is a variant on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Benign | TAAAACTTTTTGGTATTTAATTAAATTGATTCCTTTTCTTAATTTTAAAAAAGAGTACCTAGAAATTTTTCAAATTATTTCTCTAAACCACTAAAGATAAATTAAATTGTTTGGTGCATTTTAAAAGTCACTTTGGCAAATGATTCCATTGTAGATAATTTTTAAAACGTTACCTCACTCTAACTGTAATGAGTGGAATTTCATCTTTGATAGGATAGGAGATTGAAAATCGTGGAGGGAAAGGTTTGAGAGTATCAGAGCCTGCGCTCCTAACTAGAAGTATTATGTAGAAGATGCATCTTGCTTTCAGTTGATAACAG... | TAAAACTTTTTGGTATTTAATTAAATTGATTCCTTTTCTTAATTTTAAAAAAGAGTACCTAGAAATTTTTCAAATTATTTCTCTAAACCACTAAAGATAAATTAAATTGTTTGGTGCATTTTAAAAGTCACTTTGGCAAATGATTCCATTGTAGATAATTTTTAAAACGTTACCTCACTCTAACTGTAATGAGTGGAATTTCATCTTTGATAGGATAGGAGATTGAAAATCGTGGAGGGAAAGGTTTGAGAGTATCAGAGCCTGCGCTCCTAACTAGAAGTATTATGTAGAAGATGCATCTTGCTTTCAGTTGATAACAG... |
Task1_train_33708 | This genomic variant is located on Chromosome 1. Can you determine its pathogenicity and name any linked disease? | Benign | TAGGATAGGAGATTGAAAATCGTGGAGGGAAAGGTTTGAGAGTATCAGAGCCTGCGCTCCTAACTAGAAGTATTATGTAGAAGATGCATCTTGCTTTCAGTTGATAACAGCTTATTTTGGATTTATCCCATCCGAGGAACAGTTCATCTATTATACTTCACAGAGCATTAAGTTATAAGGAAATATTTACTAATTGCTTCTCTACACATGGACAACTCTTAAACCGCATGGAATTGCTCAGGATGGAAATACTATTTCCTCTGTACAATTAGCCATCAAAGTAGCCACACTTTGCTACTCAAAGTGTAGTCTATGAACTG... | TAGGATAGGAGATTGAAAATCGTGGAGGGAAAGGTTTGAGAGTATCAGAGCCTGCGCTCCTAACTAGAAGTATTATGTAGAAGATGCATCTTGCTTTCAGTTGATAACAGCTTATTTTGGATTTATCCCATCCGAGGAACAGTTCATCTATTATACTTCACAGAGCATTAAGTTATAAGGAAATATTTACTAATTGCTTCTCTACACATGGACAACTCTTAAACCGCATGGAATTGCTCAGGATGGAAATACTATTTCCTCTGTACAATTAGCCATCAAAGTAGCCACACTTTGCTACTCAAAGTGTAGTCTATGAACTG... |
Task1_train_33709 | Here is a variant on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Benign | AGTATCAGAGCCTGCGCTCCTAACTAGAAGTATTATGTAGAAGATGCATCTTGCTTTCAGTTGATAACAGCTTATTTTGGATTTATCCCATCCGAGGAACAGTTCATCTATTATACTTCACAGAGCATTAAGTTATAAGGAAATATTTACTAATTGCTTCTCTACACATGGACAACTCTTAAACCGCATGGAATTGCTCAGGATGGAAATACTATTTCCTCTGTACAATTAGCCATCAAAGTAGCCACACTTTGCTACTCAAAGTGTAGTCTATGAACTGTCGATATAAGGAGCTTGTATAAGAATGTAAAACAATCACA... | AGTATCAGAGCCTGCGCTCCTAACTAGAAGTATTATGTAGAAGATGCATCTTGCTTTCAGTTGATAACAGCTTATTTTGGATTTATCCCATCCGAGGAACAGTTCATCTATTATACTTCACAGAGCATTAAGTTATAAGGAAATATTTACTAATTGCTTCTCTACACATGGACAACTCTTAAACCGCATGGAATTGCTCAGGATGGAAATACTATTTCCTCTGTACAATTAGCCATCAAAGTAGCCACACTTTGCTACTCAAAGTGTAGTCTATGAACTGTCGATATAAGGAGCTTGTATAAGAATGTAAAACAATCACA... |
Task1_train_33710 | A variant has been detected on Chromosome 1. What is its effect — pathogenic or benign? If pathogenic, name the disease. | Benign | GTAGAAGATGCATCTTGCTTTCAGTTGATAACAGCTTATTTTGGATTTATCCCATCCGAGGAACAGTTCATCTATTATACTTCACAGAGCATTAAGTTATAAGGAAATATTTACTAATTGCTTCTCTACACATGGACAACTCTTAAACCGCATGGAATTGCTCAGGATGGAAATACTATTTCCTCTGTACAATTAGCCATCAAAGTAGCCACACTTTGCTACTCAAAGTGTAGTCTATGAACTGTCGATATAAGGAGCTTGTATAAGAATGTAAAACAATCACATTATTAAACATACCTTTTAGATGAGCTGACATTTAA... | GTAGAAGATGCATCTTGCTTTCAGTTGATAACAGCTTATTTTGGATTTATCCCATCCGAGGAACAGTTCATCTATTATACTTCACAGAGCATTAAGTTATAAGGAAATATTTACTAATTGCTTCTCTACACATGGACAACTCTTAAACCGCATGGAATTGCTCAGGATGGAAATACTATTTCCTCTGTACAATTAGCCATCAAAGTAGCCACACTTTGCTACTCAAAGTGTAGTCTATGAACTGTCGATATAAGGAGCTTGTATAAGAATGTAAAACAATCACATTATTAAACATACCTTTTAGATGAGCTGACATTTAA... |
Task1_train_33711 | A variant on Chromosome 1 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Benign | AGTAGCCACACTTTGCTACTCAAAGTGTAGTCTATGAACTGTCGATATAAGGAGCTTGTATAAGAATGTAAAACAATCACATTATTAAACATACCTTTTAGATGAGCTGACATTTAAAAAAAACCCTGAAGACTATTTTTATAAGGGAAACAGTATGAGATTTACATTCTGTTGCAAACTCTGTCTTGTTAGCACTTCTGAGCAGCACCAACTGGAGACTGGGTTTCTGCATCTTGGTGAACTATTACCGACTGCCTTCCTGCTACAAACACTTTGATAACCTATATAAATAATGTAATCAGAAACACATAGCTGAGCTT... | AGTAGCCACACTTTGCTACTCAAAGTGTAGTCTATGAACTGTCGATATAAGGAGCTTGTATAAGAATGTAAAACAATCACATTATTAAACATACCTTTTAGATGAGCTGACATTTAAAAAAAACCCTGAAGACTATTTTTATAAGGGAAACAGTATGAGATTTACATTCTGTTGCAAACTCTGTCTTGTTAGCACTTCTGAGCAGCACCAACTGGAGACTGGGTTTCTGCATCTTGGTGAACTATTACCGACTGCCTTCCTGCTACAAACACTTTGATAACCTATATAAATAATGTAATCAGAAACACATAGCTGAGCTT... |
Task1_train_33712 | A genomic variant on Chromosome 1 is under review. What is the biological outcome — benign or pathogenic? | Benign | GTTGCTTCACTTCACTGAAAGTTTGGGTTTGGTGTGATGGTTCATTTTACATATCAACTTGGTTGGACTATGGTGCCCAGTTTTTGTTCAAACACAAGCCTCGGTGTTACTGTGAAGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGATGCGATTAACATTTAAATCAGTAGACTTTTAGTAAAGCAGATTACCCTTTATAATGTGAGTGGGTCTCATCCCATCAGTTGAAAGCCTTAAGAGAAAAGACTGACCTGCTTCCAAAAAGAGGGAATTTTGCCTCCAGACTTTGAACTCAAGCTGCAACATCAACCTCTGTC... | GTTGCTTCACTTCACTGAAAGTTTGGGTTTGGTGTGATGGTTCATTTTACATATCAACTTGGTTGGACTATGGTGCCCAGTTTTTGTTCAAACACAAGCCTCGGTGTTACTGTGAAGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGATGCGATTAACATTTAAATCAGTAGACTTTTAGTAAAGCAGATTACCCTTTATAATGTGAGTGGGTCTCATCCCATCAGTTGAAAGCCTTAAGAGAAAAGACTGACCTGCTTCCAAAAAGAGGGAATTTTGCCTCCAGACTTTGAACTCAAGCTGCAACATCAACCTCTGTC... |
Task1_train_33713 | This variant lies on Chromosome 1. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Benign | TTGGTTCTGTTTCTCTGGAGAACCCTGACTAATACAGTGAATTGGAAGATCCTAGTACGAAAGGAAAGACTACTTTAATGACTACTTTCATATTATATACATATATATAATAAAATCAAAAACAGGAACTGCCACATGGTTTTGGTCTTCCCATGCCTTTGAATCATCAGGCAGAGAATGAGGTTACTCTATTGATAGAGGTGAACTCTAGTGATAGGTTACTCTATTGATAGAAGTTCTTTAACATCTGGAAAGACTAGCTGTTGTAAATTAGGACTCGTTTGTCCTTTAGATACACTGTATACATAGATAAGTAAAAC... | TTGGTTCTGTTTCTCTGGAGAACCCTGACTAATACAGTGAATTGGAAGATCCTAGTACGAAAGGAAAGACTACTTTAATGACTACTTTCATATTATATACATATATATAATAAAATCAAAAACAGGAACTGCCACATGGTTTTGGTCTTCCCATGCCTTTGAATCATCAGGCAGAGAATGAGGTTACTCTATTGATAGAGGTGAACTCTAGTGATAGGTTACTCTATTGATAGAAGTTCTTTAACATCTGGAAAGACTAGCTGTTGTAAATTAGGACTCGTTTGTCCTTTAGATACACTGTATACATAGATAAGTAAAAC... |
Task1_train_33714 | A variant on Chromosome 1 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Benign | AGTACATCCATATGTTCATTGTAGATTCAATCTTTAATCAATAAAATTGTCCTGTTTTGTCAGTTTTGTTGTTATCTCAAAATTAAATTATATTGAATTTTTCTAATTTAATTTTTAAAAATGTTTTCTTTTCTTTCTTTAATTGACTGTATTGTTTGTTTCAAACAGGCTGTATAAATTTGAGTTTAGTTTTTTTTTACCCTAGCCTATGACATGCCTTTTTCTATTAATTGGAGCACTCATCCCTTAAGTGATTGATGTATTTATTTCACTCATATTTATAATCATCTATGAGCAATCATTGTGTGCCTATACTGACA... | AGTACATCCATATGTTCATTGTAGATTCAATCTTTAATCAATAAAATTGTCCTGTTTTGTCAGTTTTGTTGTTATCTCAAAATTAAATTATATTGAATTTTTCTAATTTAATTTTTAAAAATGTTTTCTTTTCTTTCTTTAATTGACTGTATTGTTTGTTTCAAACAGGCTGTATAAATTTGAGTTTAGTTTTTTTTTACCCTAGCCTATGACATGCCTTTTTCTATTAATTGGAGCACTCATCCCTTAAGTGATTGATGTATTTATTTCACTCATATTTATAATCATCTATGAGCAATCATTGTGTGCCTATACTGACA... |
Task1_train_33715 | This alteration occurs on Chromosome 1. Is it associated with a disease or is it a benign variant? | Benign | CTATGAGCAATCATTGTGTGCCTATACTGACATGATTTGTCTTAATTCTTTAACTTTATTTTCATTATTTTACTATTTATTCCTTTATTTGTTACTTGAATTTACTTTTTTTTAAGAGATAGGGTCTTACTCTGTTGCCCAGGCTGAAATGCAGTGGCATGATCATAGCTCACTGCAACCTCGAACTCCTGTGAAGCGACACTTCTGCCTCAGTCTCTTGAGTAGCTGGGACTACAGGTGCGTGGGACCATGACCAGCCAATTTTTAAATTTTTTTTGGAGAGTCAGTGTCTTGCTATGTTGCAAGGGCTGGTCTCAAAC... | CTATGAGCAATCATTGTGTGCCTATACTGACATGATTTGTCTTAATTCTTTAACTTTATTTTCATTATTTTACTATTTATTCCTTTATTTGTTACTTGAATTTACTTTTTTTTAAGAGATAGGGTCTTACTCTGTTGCCCAGGCTGAAATGCAGTGGCATGATCATAGCTCACTGCAACCTCGAACTCCTGTGAAGCGACACTTCTGCCTCAGTCTCTTGAGTAGCTGGGACTACAGGTGCGTGGGACCATGACCAGCCAATTTTTAAATTTTTTTTGGAGAGTCAGTGTCTTGCTATGTTGCAAGGGCTGGTCTCAAAC... |
Task1_train_33716 | A variant on Chromosome 1 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Benign | GTTACTTGAATTTACTTTTTTTTAAGAGATAGGGTCTTACTCTGTTGCCCAGGCTGAAATGCAGTGGCATGATCATAGCTCACTGCAACCTCGAACTCCTGTGAAGCGACACTTCTGCCTCAGTCTCTTGAGTAGCTGGGACTACAGGTGCGTGGGACCATGACCAGCCAATTTTTAAATTTTTTTTGGAGAGTCAGTGTCTTGCTATGTTGCAAGGGCTGGTCTCAAACTCCTGGCCTCAAGCTGTCCTCCCACCTTGGCCTCCCAAGTCGCTGGGATTTCTTTTATTATTTAAGTGCCATTGTTGTTCTTTCTTCTTT... | GTTACTTGAATTTACTTTTTTTTAAGAGATAGGGTCTTACTCTGTTGCCCAGGCTGAAATGCAGTGGCATGATCATAGCTCACTGCAACCTCGAACTCCTGTGAAGCGACACTTCTGCCTCAGTCTCTTGAGTAGCTGGGACTACAGGTGCGTGGGACCATGACCAGCCAATTTTTAAATTTTTTTTGGAGAGTCAGTGTCTTGCTATGTTGCAAGGGCTGGTCTCAAACTCCTGGCCTCAAGCTGTCCTCCCACCTTGGCCTCCCAAGTCGCTGGGATTTCTTTTATTATTTAAGTGCCATTGTTGTTCTTTCTTCTTT... |
Task1_train_33717 | Here’s a variant located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Benign | GCTGAAATGCAGTGGCATGATCATAGCTCACTGCAACCTCGAACTCCTGTGAAGCGACACTTCTGCCTCAGTCTCTTGAGTAGCTGGGACTACAGGTGCGTGGGACCATGACCAGCCAATTTTTAAATTTTTTTTGGAGAGTCAGTGTCTTGCTATGTTGCAAGGGCTGGTCTCAAACTCCTGGCCTCAAGCTGTCCTCCCACCTTGGCCTCCCAAGTCGCTGGGATTTCTTTTATTATTTAAGTGCCATTGTTGTTCTTTCTTCTTTGCCCTTTTCTTCATAAACTATTTTCTTTTAGCCTTTTAGGGATCCAGTATTT... | GCTGAAATGCAGTGGCATGATCATAGCTCACTGCAACCTCGAACTCCTGTGAAGCGACACTTCTGCCTCAGTCTCTTGAGTAGCTGGGACTACAGGTGCGTGGGACCATGACCAGCCAATTTTTAAATTTTTTTTGGAGAGTCAGTGTCTTGCTATGTTGCAAGGGCTGGTCTCAAACTCCTGGCCTCAAGCTGTCCTCCCACCTTGGCCTCCCAAGTCGCTGGGATTTCTTTTATTATTTAAGTGCCATTGTTGTTCTTTCTTCTTTGCCCTTTTCTTCATAAACTATTTTCTTTTAGCCTTTTAGGGATCCAGTATTT... |
Task1_train_33718 | Mutation context: Chromosome 1. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Benign | TTATCCTCTCATCGGTTTATGGGCACTTAGGTTGGTTACAGATCCTTGCAATTGTGAATTGAGCTGCGATAAACATACACATGTGCATGTCTTTTTGATATAATGACTTCTTTTCCTTTGGGTAGATACCCAGTAGTGGGATTGCTGGATTGAATTTTAGATCTACTTTTGTTTTTTTGAAAAATCTCCATACTGTTTTCTATAGAGGTTATACTAATTTACATTCCCACCAGCAGTGGATAAGCATTCCCTTTTTACCACATCCACGCCAACATCTATTGTTTTTTGACTTTATAATAGTGGCCATTCTGGCTGGGGTA... | TTATCCTCTCATCGGTTTATGGGCACTTAGGTTGGTTACAGATCCTTGCAATTGTGAATTGAGCTGCGATAAACATACACATGTGCATGTCTTTTTGATATAATGACTTCTTTTCCTTTGGGTAGATACCCAGTAGTGGGATTGCTGGATTGAATTTTAGATCTACTTTTGTTTTTTTGAAAAATCTCCATACTGTTTTCTATAGAGGTTATACTAATTTACATTCCCACCAGCAGTGGATAAGCATTCCCTTTTTACCACATCCACGCCAACATCTATTGTTTTTTGACTTTATAATAGTGGCCATTCTGGCTGGGGTA... |
Task1_train_33719 | A mutation is present on Chromosome 1. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | TTGAAAGTTAAGGAATTTTATTTATTTTTATTTTTATTTTTTGAGATGGAATCTCACTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCACTGCAACCGTCCACCTCCCAGGTTCAAGCAATTCTCCTGTCTCGGCCTCCTGAGTAGCTGGGACTACAGGTGTACACCACCACACTTGGCTAATTTTTGTATTTTATTACAGATGGGGTTTCACCAAGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACGTGACTCAGCCTGTCAAAGTGCTGGGATTAAAGGGGTGAGCCACAGC... | TTGAAAGTTAAGGAATTTTATTTATTTTTATTTTTATTTTTTGAGATGGAATCTCACTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCACTGCAACCGTCCACCTCCCAGGTTCAAGCAATTCTCCTGTCTCGGCCTCCTGAGTAGCTGGGACTACAGGTGTACACCACCACACTTGGCTAATTTTTGTATTTTATTACAGATGGGGTTTCACCAAGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACGTGACTCAGCCTGTCAAAGTGCTGGGATTAAAGGGGTGAGCCACAGC... |
Task1_train_33720 | Given this variant on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Benign | CAACCAGCTATTTAGGCGATCAATGTCAGAAAACTAGAACAAATAGAAACACATTTTCCAGTAGAGAGACATTCAGTTGACTCCATTTTGGTTTTCTTTCTCGGTTTAACTTTTGATTTACCCAAGAAAGACCAGGAAATCAGTGATTGCCTAGAGTGAAAACTGCCAGAAGAAGAGATTATATACAAAGAAGGATAAGGAATATTTTGGATATGATGAAAATAGTCTGCCCTGGTTGTGGTGGTGGTTTCATAGGCATATACAACTGCGAAAACTCCTAGAATTGCATACTTTAAATTGATACAGTTTACCCTACATAA... | CAACCAGCTATTTAGGCGATCAATGTCAGAAAACTAGAACAAATAGAAACACATTTTCCAGTAGAGAGACATTCAGTTGACTCCATTTTGGTTTTCTTTCTCGGTTTAACTTTTGATTTACCCAAGAAAGACCAGGAAATCAGTGATTGCCTAGAGTGAAAACTGCCAGAAGAAGAGATTATATACAAAGAAGGATAAGGAATATTTTGGATATGATGAAAATAGTCTGCCCTGGTTGTGGTGGTGGTTTCATAGGCATATACAACTGCGAAAACTCCTAGAATTGCATACTTTAAATTGATACAGTTTACCCTACATAA... |
Task1_train_33721 | This alteration on Chromosome 1 may affect genome function. Does it lead to a disease or is it benign? | Benign | ATCTGTACATATAGGTATATATATGTGTGAGTGCACATTTGTATGTAAGACCATTATGAAGCTATCTCTAGATTATATTGTTAAGTAAAAAAAAAGTATAATGCAGAAAGGGATTTTTAATATTTGCTTATATTACAGTTATGTTACATATAACATATAATGAAACATTGCATATATACATATATATAACAGTTTATGATATATATAACATATATGTATAACAGTTTATATCCAAGGTTATATAACATATATCTAAGGTTATATATATAACAGTTTATGATATATATAACAACATGACATTACATATACATATACAGTAA... | ATCTGTACATATAGGTATATATATGTGTGAGTGCACATTTGTATGTAAGACCATTATGAAGCTATCTCTAGATTATATTGTTAAGTAAAAAAAAAGTATAATGCAGAAAGGGATTTTTAATATTTGCTTATATTACAGTTATGTTACATATAACATATAATGAAACATTGCATATATACATATATATAACAGTTTATGATATATATAACATATATGTATAACAGTTTATATCCAAGGTTATATAACATATATCTAAGGTTATATATATAACAGTTTATGATATATATAACAACATGACATTACATATACATATACAGTAA... |
Task1_train_33722 | This variant lies on Chromosome 1. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Benign | AGGTTATATAACATATATCTAAGGTTATATATATAACAGTTTATGATATATATAACAACATGACATTACATATACATATACAGTAAAGTTATATATAATATGTTATATATAACATAAGTGTTATATATGTTATATAACATGTTACTAATATATGTCACATATATAAAACAAAATGTTATAATTATAAAACAAAATGTTATACGTGTAAAACATGAAATGTTTTATCATTTTCTTTATCAATTTATCTGATGATGGACACAACTGCTCCAGATGTATTTGTAAGACAAAATTCCAACATGTTTTCATAATTGTGGAAATAT... | AGGTTATATAACATATATCTAAGGTTATATATATAACAGTTTATGATATATATAACAACATGACATTACATATACATATACAGTAAAGTTATATATAATATGTTATATATAACATAAGTGTTATATATGTTATATAACATGTTACTAATATATGTCACATATATAAAACAAAATGTTATAATTATAAAACAAAATGTTATACGTGTAAAACATGAAATGTTTTATCATTTTCTTTATCAATTTATCTGATGATGGACACAACTGCTCCAGATGTATTTGTAAGACAAAATTCCAACATGTTTTCATAATTGTGGAAATAT... |
Task1_train_33723 | A mutation on Chromosome 1 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Benign | ATGATATATATAACAACATGACATTACATATACATATACAGTAAAGTTATATATAATATGTTATATATAACATAAGTGTTATATATGTTATATAACATGTTACTAATATATGTCACATATATAAAACAAAATGTTATAATTATAAAACAAAATGTTATACGTGTAAAACATGAAATGTTTTATCATTTTCTTTATCAATTTATCTGATGATGGACACAACTGCTCCAGATGTATTTGTAAGACAAAATTCCAACATGTTTTCATAATTGTGGAAATATATTGTAAAAATATGCTTTACTAATCACAGCAAATGATATATT... | ATGATATATATAACAACATGACATTACATATACATATACAGTAAAGTTATATATAATATGTTATATATAACATAAGTGTTATATATGTTATATAACATGTTACTAATATATGTCACATATATAAAACAAAATGTTATAATTATAAAACAAAATGTTATACGTGTAAAACATGAAATGTTTTATCATTTTCTTTATCAATTTATCTGATGATGGACACAACTGCTCCAGATGTATTTGTAAGACAAAATTCCAACATGTTTTCATAATTGTGGAAATATATTGTAAAAATATGCTTTACTAATCACAGCAAATGATATATT... |
Task1_train_33724 | Here is a genetic alteration on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Benign | TTTTCATAATTGTGGAAATATATTGTAAAAATATGCTTTACTAATCACAGCAAATGATATATTTCTTCCAACTTGTTATAAGATGTGTTGTATATTGTATATTTTTATTATGTAGCCTCAGTTTTGGCATTCTCACTCTCTCAACCTAACTTTATTTCATGATTTAGTTTGTGACTTCAAATCTGCATTTATGATACATTTGCTAGTAGATACTCATAGCAACTGCCATAGTATAGACACCCATTTCTCATCCCATCTATGTTACATCCAAATTTTTTCAGGGGTGCCAAGTGCCTAATTTTAGAATATACTCTTCCAAT... | TTTTCATAATTGTGGAAATATATTGTAAAAATATGCTTTACTAATCACAGCAAATGATATATTTCTTCCAACTTGTTATAAGATGTGTTGTATATTGTATATTTTTATTATGTAGCCTCAGTTTTGGCATTCTCACTCTCTCAACCTAACTTTATTTCATGATTTAGTTTGTGACTTCAAATCTGCATTTATGATACATTTGCTAGTAGATACTCATAGCAACTGCCATAGTATAGACACCCATTTCTCATCCCATCTATGTTACATCCAAATTTTTTCAGGGGTGCCAAGTGCCTAATTTTAGAATATACTCTTCCAAT... |
Task1_train_33725 | A mutation found on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Benign | TTCAATGGCAGGAAGCATCCAGCACAGGAGAAAGATGTAGGCTGGGAGCCTAGGCCAATCTCTCCTTTTCACGTTTTTCTGCCTGCTTTATATTCCCTGGCAGCTGATTAGATTGTGCCCACCAGATTAAGGTTGGGTCTGCCTTTCCCAGTCCACTGACTCAAATGTTGATCTCTTTTGGCAATACCCTCACAGACACACCCAGGATCAATACTTTGTATCCTTCAATCCAATCAAGTTGACGCTCAGTATTAACCATCATAGGTACCTTAAGAGGTAGACTTTCGACATAGATACAACTTCTGAAAGTTAATATGCAT... | TTCAATGGCAGGAAGCATCCAGCACAGGAGAAAGATGTAGGCTGGGAGCCTAGGCCAATCTCTCCTTTTCACGTTTTTCTGCCTGCTTTATATTCCCTGGCAGCTGATTAGATTGTGCCCACCAGATTAAGGTTGGGTCTGCCTTTCCCAGTCCACTGACTCAAATGTTGATCTCTTTTGGCAATACCCTCACAGACACACCCAGGATCAATACTTTGTATCCTTCAATCCAATCAAGTTGACGCTCAGTATTAACCATCATAGGTACCTTAAGAGGTAGACTTTCGACATAGATACAACTTCTGAAAGTTAATATGCAT... |
Task1_train_33726 | Located on Chromosome 1, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | ACAGCAAGGAAATATGACACCTACAAAGGAAGACAATAATTCCCCAGTAAAAGACCCCAAAGAAAAGGCATATAAAATGCCTGAAGAAAAATTATTCTCTGAAAGAACCCGAGTGAGATACAAAAGAACACAGATAAATAATACAAAGAAATAAGAAAAAAAATCATGATCCGAATCAGAAATTCGACAAGAAATAGATACCGTAAAAAAGAACAAATAGAAATCCTGGAACTAAAGAATTTAATGAATGGAATAAAAATGTAATTGAGAGCTTCAACAAAATACTAGATGAAGTAGAAGAAAAAAATTTTGAACTTGAA... | ACAGCAAGGAAATATGACACCTACAAAGGAAGACAATAATTCCCCAGTAAAAGACCCCAAAGAAAAGGCATATAAAATGCCTGAAGAAAAATTATTCTCTGAAAGAACCCGAGTGAGATACAAAAGAACACAGATAAATAATACAAAGAAATAAGAAAAAAAATCATGATCCGAATCAGAAATTCGACAAGAAATAGATACCGTAAAAAAGAACAAATAGAAATCCTGGAACTAAAGAATTTAATGAATGGAATAAAAATGTAATTGAGAGCTTCAACAAAATACTAGATGAAGTAGAAGAAAAAAATTTTGAACTTGAA... |
Task1_train_33727 | Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Benign | AAAGAACACAGATAAATAATACAAAGAAATAAGAAAAAAAATCATGATCCGAATCAGAAATTCGACAAGAAATAGATACCGTAAAAAAGAACAAATAGAAATCCTGGAACTAAAGAATTTAATGAATGGAATAAAAATGTAATTGAGAGCTTCAACAAAATACTAGATGAAGTAGAAGAAAAAAATTTTGAACTTGAAGACAACTCTGTTGAAATAATTCAGGCAGACAAAGAAAAACACAAATACTCCAATTTGATTATTATACATTATATGCCTGAATCAATATATCATATGTACCCTATAAATATATACAATTATTG... | AAAGAACACAGATAAATAATACAAAGAAATAAGAAAAAAAATCATGATCCGAATCAGAAATTCGACAAGAAATAGATACCGTAAAAAAGAACAAATAGAAATCCTGGAACTAAAGAATTTAATGAATGGAATAAAAATGTAATTGAGAGCTTCAACAAAATACTAGATGAAGTAGAAGAAAAAAATTTTGAACTTGAAGACAACTCTGTTGAAATAATTCAGGCAGACAAAGAAAAACACAAATACTCCAATTTGATTATTATACATTATATGCCTGAATCAATATATCATATGTACCCTATAAATATATACAATTATTG... |
Task1_train_33728 | Consider this mutation on Chromosome 1. Is this a benign change or a disease-causing variant? | Benign | TAATAAAGTATAAGAAAAAGAGGACTATAATTATAAAATATCAGATGCTACTAAAAAAACAAAAGGGAGGACACTGAAAAATCTCAACAGATTTTCCACAATGCACGTAATTTCTTAAATATTTAAACCAAAAATATTTCACCAATATAATTTAACTGAGGGTAGGGTAACAGTCTTTTCTCTTTTACAACTCTGCCTACTCAACTCTGACAATAGGTAGATGTACATGTCAACATAATTGATTCATGTTTAGCATACATTTTTTTCTTTAAAGGGAAAGAACAAATAATTGTGTGATTTTCCCTCTGGTAGAACTTAAA... | TAATAAAGTATAAGAAAAAGAGGACTATAATTATAAAATATCAGATGCTACTAAAAAAACAAAAGGGAGGACACTGAAAAATCTCAACAGATTTTCCACAATGCACGTAATTTCTTAAATATTTAAACCAAAAATATTTCACCAATATAATTTAACTGAGGGTAGGGTAACAGTCTTTTCTCTTTTACAACTCTGCCTACTCAACTCTGACAATAGGTAGATGTACATGTCAACATAATTGATTCATGTTTAGCATACATTTTTTTCTTTAAAGGGAAAGAACAAATAATTGTGTGATTTTCCCTCTGGTAGAACTTAAA... |
Task1_train_33729 | A mutation located on Chromosome 1 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Benign | CAGAACACAAGGAAAAGTCAAAAAATCATAGAAGTATGATTACAGTTTCATGAAATCCCAAAGATCTGGAGAATTGAAAGTTGTAATGAATTTTTAAAAAAAGTTTCTGATACCTTCTCACTGAGAAATAAATTAATTAAGAGTTATTTAATTAATGGTACAAATTTTATGAACCATGGTACAGTTCATAAGAAAAGAGAGCAAATTCATCTCCATTTTGCATTTATTCTGAATAAAAATGTCCATTTACTCTGTCTTTGAATCTTCCCAGGGTATGTTTATTTCCATTTTGTATAGAGTAAGAAACAGTATCAGGAAAT... | CAGAACACAAGGAAAAGTCAAAAAATCATAGAAGTATGATTACAGTTTCATGAAATCCCAAAGATCTGGAGAATTGAAAGTTGTAATGAATTTTTAAAAAAAGTTTCTGATACCTTCTCACTGAGAAATAAATTAATTAAGAGTTATTTAATTAATGGTACAAATTTTATGAACCATGGTACAGTTCATAAGAAAAGAGAGCAAATTCATCTCCATTTTGCATTTATTCTGAATAAAAATGTCCATTTACTCTGTCTTTGAATCTTCCCAGGGTATGTTTATTTCCATTTTGTATAGAGTAAGAAACAGTATCAGGAAAT... |
Task1_train_33730 | Here is a variant on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Benign | CTTACACACATATGCATTGCTCTATCCCATGCTTCCTATTCCACAGATGGAAGTCACTCCCCACAATGGAATTCCAACTTATTATAGTTCAAGTAGTCCTAAGGTAAACTGCCTAAATATATTATTGTTTTGTATATAATATTTAATAAATAATGGAATGTACGAGAGAGAGAGCTATTATAGGTAAAAAGAAATAAAAATAGGTTGATAATCACTGATTTAGAAAGAAGCCACATCAATGATTACAATAAAAAGGTCTAATTTGTATCACAAACCTAGCACATATTGTTAGATTTCTTTCACCTTATAATATAACCAAA... | CTTACACACATATGCATTGCTCTATCCCATGCTTCCTATTCCACAGATGGAAGTCACTCCCCACAATGGAATTCCAACTTATTATAGTTCAAGTAGTCCTAAGGTAAACTGCCTAAATATATTATTGTTTTGTATATAATATTTAATAAATAATGGAATGTACGAGAGAGAGAGCTATTATAGGTAAAAAGAAATAAAAATAGGTTGATAATCACTGATTTAGAAAGAAGCCACATCAATGATTACAATAAAAAGGTCTAATTTGTATCACAAACCTAGCACATATTGTTAGATTTCTTTCACCTTATAATATAACCAAA... |
Task1_train_33731 | Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Benign | GGTAAAGTCTTGCTTGGCCCTTTCTTTCTTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACAGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCCTAGTAGCTGGGATAACAGGCATGCCCCTTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTTTCCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGACCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACT... | GGTAAAGTCTTGCTTGGCCCTTTCTTTCTTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACAGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCCTAGTAGCTGGGATAACAGGCATGCCCCTTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTTTCCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGACCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACT... |
Task1_train_33732 | A mutation is present on Chromosome 1. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | TGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACAGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCCTAGTAGCTGGGATAACAGGCATGCCCCTTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTTTCCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGACCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTGGCTTGCTTGGTCCTTTCTATGTCATTGTCTTTCCGGGAAATTCAGACTGTGGCACAGGACGTGGCA... | TGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACAGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCCTAGTAGCTGGGATAACAGGCATGCCCCTTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTTTCCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGACCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTGGCTTGCTTGGTCCTTTCTATGTCATTGTCTTTCCGGGAAATTCAGACTGTGGCACAGGACGTGGCA... |
Task1_train_33733 | An alteration has been detected on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Benign | TCAGCTCACAGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCCTAGTAGCTGGGATAACAGGCATGCCCCTTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTTTCCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGACCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTGGCTTGCTTGGTCCTTTCTATGTCATTGTCTTTCCGGGAAATTCAGACTGTGGCACAGGACGTGGCATGCTTCATGAGATTAAAAATATTTGTAGA... | TCAGCTCACAGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCCTAGTAGCTGGGATAACAGGCATGCCCCTTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTTTCCATGTTGGCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGACCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTGGCTTGCTTGGTCCTTTCTATGTCATTGTCTTTCCGGGAAATTCAGACTGTGGCACAGGACGTGGCATGCTTCATGAGATTAAAAATATTTGTAGA... |
Task1_train_33734 | Given a variant located on Chromosome 1, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Benign | CAACAGAGCGAGACTCCGTTTCAAAAAAAAAAGTAGTTCACTGTAAGTGTTTAAAGGCAAATAAGTATAGTGGTAGTGGTAGTAGCAGTAGCAGTAGCAGTAGCAGTAGAAACAGTATTTGTTCTGATATTAAAAATCAAACTATATTAACATGTTAGTCTGATTTTGCATTGCTATAAAGAAATACCTGAGGCTGGGTAATTTATTAATATAAGGAAATATGCTTTATTTTGGCTCATGGTTCTGTAGGCTGTACAGGAGTCATGGTGCTGGCACCTGTTTCTGGTGAGGCCTCAGGACACCTACAGTCATGGTGGAAA... | CAACAGAGCGAGACTCCGTTTCAAAAAAAAAAGTAGTTCACTGTAAGTGTTTAAAGGCAAATAAGTATAGTGGTAGTGGTAGTAGCAGTAGCAGTAGCAGTAGCAGTAGAAACAGTATTTGTTCTGATATTAAAAATCAAACTATATTAACATGTTAGTCTGATTTTGCATTGCTATAAAGAAATACCTGAGGCTGGGTAATTTATTAATATAAGGAAATATGCTTTATTTTGGCTCATGGTTCTGTAGGCTGTACAGGAGTCATGGTGCTGGCACCTGTTTCTGGTGAGGCCTCAGGACACCTACAGTCATGGTGGAAA... |
Task1_train_33735 | This variant is found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Benign | GACCTGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTGGGAAAGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGCTTGTGCACGGTGCGCGCACCCACTGGCCTGCGCCCACTGTCTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCTGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTCGCATGTATTTATTTTTATTTGTCTTAGTTTGGGAGTACTGTTTTGTTACCTCCACG... | GACCTGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTGGGAAAGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGCTTGTGCACGGTGCGCGCACCCACTGGCCTGCGCCCACTGTCTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCTGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTCGCATGTATTTATTTTTATTTGTCTTAGTTTGGGAGTACTGTTTTGTTACCTCCACG... |
Task1_train_33736 | A genomic change on Chromosome 1 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant. | Benign | TCTTTGACTGGGAAAGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGCTTGTGCACGGTGCGCGCACCCACTGGCCTGCGCCCACTGTCTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCTGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTCGCATGTATTTATTTTTATTTGTCTTAGTTTGGGAGTACTGTTTTGTTACCTCCACGTATGGATTTATATTAATTTGCGAGTACTGCTTT... | TCTTTGACTGGGAAAGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGCTTGTGCACGGTGCGCGCACCCACTGGCCTGCGCCCACTGTCTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCTGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTCGCATGTATTTATTTTTATTTGTCTTAGTTTGGGAGTACTGTTTTGTTACCTCCACGTATGGATTTATATTAATTTGCGAGTACTGCTTT... |
Task1_train_33737 | Located on Chromosome 1, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | ATTTGTCTTAGTTTGGGAGTACTGTTTTGTTACCTCCACGTATGGATTTATATTAATTTGCGAGTACTGCTTTTTACCTGCACATACATGCTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATACTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATACTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATGCTTATATCTATTTATATTAATTTGGGGGTACTGCTTTTTAGCTGCATGTATTGCACAGTGGCGAAGTC... | ATTTGTCTTAGTTTGGGAGTACTGTTTTGTTACCTCCACGTATGGATTTATATTAATTTGCGAGTACTGCTTTTTACCTGCACATACATGCTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATACTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATACTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATGCTTATATCTATTTATATTAATTTGGGGGTACTGCTTTTTAGCTGCATGTATTGCACAGTGGCGAAGTC... |
Task1_train_33738 | Given a variant located on Chromosome 1, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Benign | AGTTTGGGAGTACTGTTTTGTTACCTCCACGTATGGATTTATATTAATTTGCGAGTACTGCTTTTTACCTGCACATACATGCTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATACTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATACTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATGCTTATATCTATTTATATTAATTTGGGGGTACTGCTTTTTAGCTGCATGTATTGCACAGTGGCGAAGTCTTGGCTTTT... | AGTTTGGGAGTACTGTTTTGTTACCTCCACGTATGGATTTATATTAATTTGCGAGTACTGCTTTTTACCTGCACATACATGCTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATACTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATACTTATATCTATTTATATTAATTTGGGAGTACTGCTTTTTACCTGCACATACATGCTTATATCTATTTATATTAATTTGGGGGTACTGCTTTTTAGCTGCATGTATTGCACAGTGGCGAAGTCTTGGCTTTT... |
Task1_train_33739 | Given this context: Chromosome 1 — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Benign | AGGAAATTCTGACACATGGGATGAACCTTGAGGACATTATGATAAGTGAAATAAGCCAGTCACAGACACACACACACACACACACACACACACACACACACAATACCACATGATTCCATTTATATGAGGTTTCTAAAACACTCAAATTTATAGAGACACAAAATAGAATGGTGGTTGCTGGGGGCTGTGTGTGAGAAGAATGGGGAGTTATTTCACAGTGGGTACAGAATTTCAATTTAGGGAGGTGAAATGAGATTCATAGATGGATATTGTGGATGGTCATACAACAATATGATTATACTTGAAGCCACTGTACTGAT... | AGGAAATTCTGACACATGGGATGAACCTTGAGGACATTATGATAAGTGAAATAAGCCAGTCACAGACACACACACACACACACACACACACACACACACACAATACCACATGATTCCATTTATATGAGGTTTCTAAAACACTCAAATTTATAGAGACACAAAATAGAATGGTGGTTGCTGGGGGCTGTGTGTGAGAAGAATGGGGAGTTATTTCACAGTGGGTACAGAATTTCAATTTAGGGAGGTGAAATGAGATTCATAGATGGATATTGTGGATGGTCATACAACAATATGATTATACTTGAAGCCACTGTACTGAT... |
Task1_train_33740 | A variant was discovered on Chromosome 1. What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Benign | GGACATATGTATATTTCCATGATGTTTAAATTTTAAACAACCAAATAAAACCCTCAGGTATTGTGCTGCCCGTACAATTATGATGCTCAAGTAATGCACTCTGGTATTGACTGACGCAACTGCACTGCCTTTCCCAGTCGTGACTGGCATTTTAGTTTAGGGTGGATACAAAAAGTGGAGGCAAAGGGAATGCGCATGGAAGAGATGGGCTCCTTCTGCCATATAACTTTATTGAATTAGACCATATCCTTGAGATTGAATCAGCATCAATACCTCTGCAGGTGTGGCGACATTTATTCAACAAGGTAGAAAACTTCCTG... | GGACATATGTATATTTCCATGATGTTTAAATTTTAAACAACCAAATAAAACCCTCAGGTATTGTGCTGCCCGTACAATTATGATGCTCAAGTAATGCACTCTGGTATTGACTGACGCAACTGCACTGCCTTTCCCAGTCGTGACTGGCATTTTAGTTTAGGGTGGATACAAAAAGTGGAGGCAAAGGGAATGCGCATGGAAGAGATGGGCTCCTTCTGCCATATAACTTTATTGAATTAGACCATATCCTTGAGATTGAATCAGCATCAATACCTCTGCAGGTGTGGCGACATTTATTCAACAAGGTAGAAAACTTCCTG... |
Task1_train_33741 | This sequence change occurs on Chromosome 1. What is the medical significance of this variant — is it benign or linked to a disease? | Benign | TTAAATTTTAAACAACCAAATAAAACCCTCAGGTATTGTGCTGCCCGTACAATTATGATGCTCAAGTAATGCACTCTGGTATTGACTGACGCAACTGCACTGCCTTTCCCAGTCGTGACTGGCATTTTAGTTTAGGGTGGATACAAAAAGTGGAGGCAAAGGGAATGCGCATGGAAGAGATGGGCTCCTTCTGCCATATAACTTTATTGAATTAGACCATATCCTTGAGATTGAATCAGCATCAATACCTCTGCAGGTGTGGCGACATTTATTCAACAAGGTAGAAAACTTCCTGCACCAGCAGATCTAAGATGAAAATG... | TTAAATTTTAAACAACCAAATAAAACCCTCAGGTATTGTGCTGCCCGTACAATTATGATGCTCAAGTAATGCACTCTGGTATTGACTGACGCAACTGCACTGCCTTTCCCAGTCGTGACTGGCATTTTAGTTTAGGGTGGATACAAAAAGTGGAGGCAAAGGGAATGCGCATGGAAGAGATGGGCTCCTTCTGCCATATAACTTTATTGAATTAGACCATATCCTTGAGATTGAATCAGCATCAATACCTCTGCAGGTGTGGCGACATTTATTCAACAAGGTAGAAAACTTCCTGCACCAGCAGATCTAAGATGAAAATG... |
Task1_train_33742 | An alteration has been detected on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Benign | TCTTTGGCTCTAGACTAATATTTAAGCCTAAAAACTCTGGTTCTTTTAGGCTTACTGTGCAAAGCTGTTTACTGATGTCTTACATCTGGAGTGGAATTTCTAACACACCTCTACCTAGAAGTCTGTCAGAATTTTAGTTTCTTTTTTTTATTTAGGCAATTGCATGCTCCTCCAAGTGCATTCTTTTGAAGGATCCATAAAGCAATGTGTAATGTTATCTAATCACTAGAGAAGCAAAAGACAAAATCTGTAACATATTTGGTAAGGGGTCTGCTTTAAATAGAGTATTCTGAAATTAGGCGAGGAGGCCAAAGAGAATG... | TCTTTGGCTCTAGACTAATATTTAAGCCTAAAAACTCTGGTTCTTTTAGGCTTACTGTGCAAAGCTGTTTACTGATGTCTTACATCTGGAGTGGAATTTCTAACACACCTCTACCTAGAAGTCTGTCAGAATTTTAGTTTCTTTTTTTTATTTAGGCAATTGCATGCTCCTCCAAGTGCATTCTTTTGAAGGATCCATAAAGCAATGTGTAATGTTATCTAATCACTAGAGAAGCAAAAGACAAAATCTGTAACATATTTGGTAAGGGGTCTGCTTTAAATAGAGTATTCTGAAATTAGGCGAGGAGGCCAAAGAGAATG... |
Task1_train_33743 | This is a variant located on Chromosome 1. Is this mutation a likely cause of disease or not? | Benign | CTGTTTACTGATGTCTTACATCTGGAGTGGAATTTCTAACACACCTCTACCTAGAAGTCTGTCAGAATTTTAGTTTCTTTTTTTTATTTAGGCAATTGCATGCTCCTCCAAGTGCATTCTTTTGAAGGATCCATAAAGCAATGTGTAATGTTATCTAATCACTAGAGAAGCAAAAGACAAAATCTGTAACATATTTGGTAAGGGGTCTGCTTTAAATAGAGTATTCTGAAATTAGGCGAGGAGGCCAAAGAGAATGGATGATGATGAATATTGAAAATCAAGAGTGTGGATTAATATGACTTTCCGTAAAAGGGACATAG... | CTGTTTACTGATGTCTTACATCTGGAGTGGAATTTCTAACACACCTCTACCTAGAAGTCTGTCAGAATTTTAGTTTCTTTTTTTTATTTAGGCAATTGCATGCTCCTCCAAGTGCATTCTTTTGAAGGATCCATAAAGCAATGTGTAATGTTATCTAATCACTAGAGAAGCAAAAGACAAAATCTGTAACATATTTGGTAAGGGGTCTGCTTTAAATAGAGTATTCTGAAATTAGGCGAGGAGGCCAAAGAGAATGGATGATGATGAATATTGAAAATCAAGAGTGTGGATTAATATGACTTTCCGTAAAAGGGACATAG... |
Task1_train_33744 | Consider this mutation on Chromosome 1. Is this a benign change or a disease-causing variant? | Benign | TGGAATTTCTAACACACCTCTACCTAGAAGTCTGTCAGAATTTTAGTTTCTTTTTTTTATTTAGGCAATTGCATGCTCCTCCAAGTGCATTCTTTTGAAGGATCCATAAAGCAATGTGTAATGTTATCTAATCACTAGAGAAGCAAAAGACAAAATCTGTAACATATTTGGTAAGGGGTCTGCTTTAAATAGAGTATTCTGAAATTAGGCGAGGAGGCCAAAGAGAATGGATGATGATGAATATTGAAAATCAAGAGTGTGGATTAATATGACTTTCCGTAAAAGGGACATAGCAATAAGGATTTATTCTAGGTTTCTAA... | TGGAATTTCTAACACACCTCTACCTAGAAGTCTGTCAGAATTTTAGTTTCTTTTTTTTATTTAGGCAATTGCATGCTCCTCCAAGTGCATTCTTTTGAAGGATCCATAAAGCAATGTGTAATGTTATCTAATCACTAGAGAAGCAAAAGACAAAATCTGTAACATATTTGGTAAGGGGTCTGCTTTAAATAGAGTATTCTGAAATTAGGCGAGGAGGCCAAAGAGAATGGATGATGATGAATATTGAAAATCAAGAGTGTGGATTAATATGACTTTCCGTAAAAGGGACATAGCAATAAGGATTTATTCTAGGTTTCTAA... |
Task1_train_33745 | Here is a mutation located on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Benign | AGATTTTTAGTATAATCGAGATATGCCTTTTTCTTATGTCTATGTTTTAGTTAATTTTGGCATAGTTATAAGTAATTAATATATGACAATAACATAAGCATAAAATTAGAAAAACATTTAGAATTTAGGCTGATTTTCTTTCCAATCTGCATTCCTCATATATGTCCTCTGTCCTCTCTCTAGTACAAAAAGGGTTTCCAGTTCATTGTGTATCATTCCATAGGTAGACACATATATGACCATATATTATTTTTATTAATTACTATTCTGCATCTTACTTTTATTAATGTTGTTATGGTAAAATTTAAAACACATACACA... | AGATTTTTAGTATAATCGAGATATGCCTTTTTCTTATGTCTATGTTTTAGTTAATTTTGGCATAGTTATAAGTAATTAATATATGACAATAACATAAGCATAAAATTAGAAAAACATTTAGAATTTAGGCTGATTTTCTTTCCAATCTGCATTCCTCATATATGTCCTCTGTCCTCTCTCTAGTACAAAAAGGGTTTCCAGTTCATTGTGTATCATTCCATAGGTAGACACATATATGACCATATATTATTTTTATTAATTACTATTCTGCATCTTACTTTTATTAATGTTGTTATGGTAAAATTTAAAACACATACACA... |
Task1_train_33746 | A change on Chromosome 1 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Benign | ACATACACACACATAGCCATAGGCAAGATAACCACAAGGAAACAAGGTATGATAAATTGAACACCTGTGTGACCACTTGCCAGTTCAGGATATAGACCAATGTCAGCACGCTCAGAAGCCCTTTGCATTCCCATTTCCAAACAAAAAGTCCTCCTTCCACCTGAATGTAATTACTATCTTATCTTGTAGTAATACTCTTCATACTTTATTTATAAGTTCTAAAGAAATGTGTAAACAGTGTACATTAATTTTAAACCACTTATTCTACTGAGTTTGGCCTCCAGTGAGTTTTGTGTTTATGACACATTCCTGTCTCTCAT... | ACATACACACACATAGCCATAGGCAAGATAACCACAAGGAAACAAGGTATGATAAATTGAACACCTGTGTGACCACTTGCCAGTTCAGGATATAGACCAATGTCAGCACGCTCAGAAGCCCTTTGCATTCCCATTTCCAAACAAAAAGTCCTCCTTCCACCTGAATGTAATTACTATCTTATCTTGTAGTAATACTCTTCATACTTTATTTATAAGTTCTAAAGAAATGTGTAAACAGTGTACATTAATTTTAAACCACTTATTCTACTGAGTTTGGCCTCCAGTGAGTTTTGTGTTTATGACACATTCCTGTCTCTCAT... |
Task1_train_33747 | Here is a mutation located on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Benign | ATATTAACTTCATTATTATTTTGCTATATGCATTTCTAAGAAAGTCCTTAAGCACATATTGTTCCTCCAATATGATTTCCCTACTTTTTTTATCTTTCCTAAATTACAATTTTTTCATATTGTTGTTGCTTTTGTTTACCTTCTAATAGATTTTTCTTACTTTGCCTTTTGAAACTTTCACTTAATATTTTTTATCAATTATTATATTTTTAATTTTCAAAGGTCCTTTATGTTACCTGTTGCATCCTTTCAGATAGCAAATGATATTTATTTCACAGATTTCGTAACATATCATACATCTCTGAAGATATGAATTCTGA... | ATATTAACTTCATTATTATTTTGCTATATGCATTTCTAAGAAAGTCCTTAAGCACATATTGTTCCTCCAATATGATTTCCCTACTTTTTTTATCTTTCCTAAATTACAATTTTTTCATATTGTTGTTGCTTTTGTTTACCTTCTAATAGATTTTTCTTACTTTGCCTTTTGAAACTTTCACTTAATATTTTTTATCAATTATTATATTTTTAATTTTCAAAGGTCCTTTATGTTACCTGTTGCATCCTTTCAGATAGCAAATGATATTTATTTCACAGATTTCGTAACATATCATACATCTCTGAAGATATGAATTCTGA... |
Task1_train_33748 | Here is a mutation located on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Benign | TATTGTTGTTGCTTTTGTTTACCTTCTAATAGATTTTTCTTACTTTGCCTTTTGAAACTTTCACTTAATATTTTTTATCAATTATTATATTTTTAATTTTCAAAGGTCCTTTATGTTACCTGTTGCATCCTTTCAGATAGCAAATGATATTTATTTCACAGATTTCGTAACATATCATACATCTCTGAAGATATGAATTCTGATCACAACAATTCATTCTTTCTGCATTTTTAATCATTATAATCTCAGTGTATTTATGAGTATGATCATGTGTGATTATGCATATTTCTGTGTGTTTGCATGCTGTGTGAATGTTAGTT... | TATTGTTGTTGCTTTTGTTTACCTTCTAATAGATTTTTCTTACTTTGCCTTTTGAAACTTTCACTTAATATTTTTTATCAATTATTATATTTTTAATTTTCAAAGGTCCTTTATGTTACCTGTTGCATCCTTTCAGATAGCAAATGATATTTATTTCACAGATTTCGTAACATATCATACATCTCTGAAGATATGAATTCTGATCACAACAATTCATTCTTTCTGCATTTTTAATCATTATAATCTCAGTGTATTTATGAGTATGATCATGTGTGATTATGCATATTTCTGTGTGTTTGCATGCTGTGTGAATGTTAGTT... |
Task1_train_33749 | Consider this mutation on Chromosome 1. Is this a benign change or a disease-causing variant? | Benign | CAATTATTATATTTTTAATTTTCAAAGGTCCTTTATGTTACCTGTTGCATCCTTTCAGATAGCAAATGATATTTATTTCACAGATTTCGTAACATATCATACATCTCTGAAGATATGAATTCTGATCACAACAATTCATTCTTTCTGCATTTTTAATCATTATAATCTCAGTGTATTTATGAGTATGATCATGTGTGATTATGCATATTTCTGTGTGTTTGCATGCTGTGTGAATGTTAGTTGTATACGTGGTTATAGTAGCTCAAAATTCTGGTGGTATTTGGCTCTAGACTAATATTTAAGCCTAAAAAACTCCAGTT... | CAATTATTATATTTTTAATTTTCAAAGGTCCTTTATGTTACCTGTTGCATCCTTTCAGATAGCAAATGATATTTATTTCACAGATTTCGTAACATATCATACATCTCTGAAGATATGAATTCTGATCACAACAATTCATTCTTTCTGCATTTTTAATCATTATAATCTCAGTGTATTTATGAGTATGATCATGTGTGATTATGCATATTTCTGTGTGTTTGCATGCTGTGTGAATGTTAGTTGTATACGTGGTTATAGTAGCTCAAAATTCTGGTGGTATTTGGCTCTAGACTAATATTTAAGCCTAAAAAACTCCAGTT... |
Task1_train_33750 | This variant is present on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Benign | CTCTGAAGATATGAATTCTGATCACAACAATTCATTCTTTCTGCATTTTTAATCATTATAATCTCAGTGTATTTATGAGTATGATCATGTGTGATTATGCATATTTCTGTGTGTTTGCATGCTGTGTGAATGTTAGTTGTATACGTGGTTATAGTAGCTCAAAATTCTGGTGGTATTTGGCTCTAGACTAATATTTAAGCCTAAAAAACTCCAGTTCTTTTAGGCATACTGTGCAAAGTTGTTCTCTGATGTCTTCTATCTGGAGTAGAGTTTCTAACGCACCTCTACCCGGAAGTTTGTCAGAATTCTAGTTTCCCTTT... | CTCTGAAGATATGAATTCTGATCACAACAATTCATTCTTTCTGCATTTTTAATCATTATAATCTCAGTGTATTTATGAGTATGATCATGTGTGATTATGCATATTTCTGTGTGTTTGCATGCTGTGTGAATGTTAGTTGTATACGTGGTTATAGTAGCTCAAAATTCTGGTGGTATTTGGCTCTAGACTAATATTTAAGCCTAAAAAACTCCAGTTCTTTTAGGCATACTGTGCAAAGTTGTTCTCTGATGTCTTCTATCTGGAGTAGAGTTTCTAACGCACCTCTACCCGGAAGTTTGTCAGAATTCTAGTTTCCCTTT... |
Task1_train_33751 | The following genetic variant occurs on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Benign | TGATTATGCATATTTCTGTGTGTTTGCATGCTGTGTGAATGTTAGTTGTATACGTGGTTATAGTAGCTCAAAATTCTGGTGGTATTTGGCTCTAGACTAATATTTAAGCCTAAAAAACTCCAGTTCTTTTAGGCATACTGTGCAAAGTTGTTCTCTGATGTCTTCTATCTGGAGTAGAGTTTCTAACGCACCTCTACCCGGAAGTTTGTCAGAATTCTAGTTTCCCTTTTTATTTAAGAGATTGAATTTTCCTCAAAATTCATTCTTTTGAAGGATCCATAAAGCAATCTGTAATGTTATCTAAGCACTAGAGAAGGAAA... | TGATTATGCATATTTCTGTGTGTTTGCATGCTGTGTGAATGTTAGTTGTATACGTGGTTATAGTAGCTCAAAATTCTGGTGGTATTTGGCTCTAGACTAATATTTAAGCCTAAAAAACTCCAGTTCTTTTAGGCATACTGTGCAAAGTTGTTCTCTGATGTCTTCTATCTGGAGTAGAGTTTCTAACGCACCTCTACCCGGAAGTTTGTCAGAATTCTAGTTTCCCTTTTTATTTAAGAGATTGAATTTTCCTCAAAATTCATTCTTTTGAAGGATCCATAAAGCAATCTGTAATGTTATCTAAGCACTAGAGAAGGAAA... |
Task1_train_33752 | A variant has been detected on Chromosome 1. What is its effect — pathogenic or benign? If pathogenic, name the disease. | Benign | AATATTTAAGCCTAAAAAACTCCAGTTCTTTTAGGCATACTGTGCAAAGTTGTTCTCTGATGTCTTCTATCTGGAGTAGAGTTTCTAACGCACCTCTACCCGGAAGTTTGTCAGAATTCTAGTTTCCCTTTTTATTTAAGAGATTGAATTTTCCTCAAAATTCATTCTTTTGAAGGATCCATAAAGCAATCTGTAATGTTATCTAAGCACTAGAGAAGGAAAAGACAAAATGTGTAACCTATTTGGTAAGGCATCTGCTTTAACTAGAGAATTTTGAAATTAGGCAAGGAGGCAAAAGAGAATGGATGATGATGAATATT... | AATATTTAAGCCTAAAAAACTCCAGTTCTTTTAGGCATACTGTGCAAAGTTGTTCTCTGATGTCTTCTATCTGGAGTAGAGTTTCTAACGCACCTCTACCCGGAAGTTTGTCAGAATTCTAGTTTCCCTTTTTATTTAAGAGATTGAATTTTCCTCAAAATTCATTCTTTTGAAGGATCCATAAAGCAATCTGTAATGTTATCTAAGCACTAGAGAAGGAAAAGACAAAATGTGTAACCTATTTGGTAAGGCATCTGCTTTAACTAGAGAATTTTGAAATTAGGCAAGGAGGCAAAAGAGAATGGATGATGATGAATATT... |
Task1_train_33753 | Here’s a variant located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Benign | TTTATTTTTCTATAGAATCGTAATCACTACATAACATCACTGTATGTTTGAGTTTGTTGGTCTATTGTTTGTATAATTATCTCAATTTTAATTACATATTCTAAAATCCTTTGTGTTTCATCACCAAAGCACATCAGTAGCTAGCAGCACTGTCATAAAACATAAATTCAGTGAACACTATTTGAGGAAATGAATGTATCATAATGATGGTTTTCATGTTTTTTTCTGATCAGTTTTTATTTCTAAAGCACTATAAGAAGCAGAGAGTGCCTGTGATCCCATTTGGCATCCAAGTCCAATGCTACTGTGCACCTGTCATG... | TTTATTTTTCTATAGAATCGTAATCACTACATAACATCACTGTATGTTTGAGTTTGTTGGTCTATTGTTTGTATAATTATCTCAATTTTAATTACATATTCTAAAATCCTTTGTGTTTCATCACCAAAGCACATCAGTAGCTAGCAGCACTGTCATAAAACATAAATTCAGTGAACACTATTTGAGGAAATGAATGTATCATAATGATGGTTTTCATGTTTTTTTCTGATCAGTTTTTATTTCTAAAGCACTATAAGAAGCAGAGAGTGCCTGTGATCCCATTTGGCATCCAAGTCCAATGCTACTGTGCACCTGTCATG... |
Task1_train_33754 | Consider a variant on Chromosome 1. Determine its clinical classification and disease relevance. | Benign | GCATGTTTCGAAAGCATGCATCTCATGCTTTTCTGAAATTCCGTTTTTCTTTGTACTTATTCTTCAGAGGAGATATTGGGTGTATTAGTTCCCTAGGAATGAGAATACAGAGTATCACAAACTGGTTACCTAAAACAACAGAAATTTGTTCTCTCACAGTTCTGCAGGCTAGAAATCTGAAATCAAGTTGTCAGCAGGGTTGGTTATTTCTGAAGGCTCTAAGAGGAGGAATCTTTCCCATTACTTTCTCCCAGGTTCTTGTGATAACTAACAGTTTTTGGCATTTCTTGGTTTGCAGATGCACCACTCCAATCCCTGCC... | GCATGTTTCGAAAGCATGCATCTCATGCTTTTCTGAAATTCCGTTTTTCTTTGTACTTATTCTTCAGAGGAGATATTGGGTGTATTAGTTCCCTAGGAATGAGAATACAGAGTATCACAAACTGGTTACCTAAAACAACAGAAATTTGTTCTCTCACAGTTCTGCAGGCTAGAAATCTGAAATCAAGTTGTCAGCAGGGTTGGTTATTTCTGAAGGCTCTAAGAGGAGGAATCTTTCCCATTACTTTCTCCCAGGTTCTTGTGATAACTAACAGTTTTTGGCATTTCTTGGTTTGCAGATGCACCACTCCAATCCCTGCC... |
Task1_train_33755 | A variant affecting Chromosome 1 has been observed. Determine if it's benign or associated with disease. | Benign | TTCCCTTGACTACTCTGTTCAAAGATGAACATGCTCACACAATTCTAACACCCATCTTTGACTTACTTTTCTCCAAAACATTTATCCTTTTATGATATAAAGTGGTTTATAGTCATCATCTGATCGCACTCACTATGACCTGTATGAACAGGGGCTTTCTTTGATCTAATTACTGTGGTAGCCACAGTGGTCAACATATAGCCAGACTTCACAAGTGTTGTTTGAAAGGGTGGATCTCATGCTTTTCTGAATTTCTGTTTTTGTATGTACTTATTTTCTAGAGGAGATATTGTGTGTATTAGTTTCCTAAGAATGCCAAT... | TTCCCTTGACTACTCTGTTCAAAGATGAACATGCTCACACAATTCTAACACCCATCTTTGACTTACTTTTCTCCAAAACATTTATCCTTTTATGATATAAAGTGGTTTATAGTCATCATCTGATCGCACTCACTATGACCTGTATGAACAGGGGCTTTCTTTGATCTAATTACTGTGGTAGCCACAGTGGTCAACATATAGCCAGACTTCACAAGTGTTGTTTGAAAGGGTGGATCTCATGCTTTTCTGAATTTCTGTTTTTGTATGTACTTATTTTCTAGAGGAGATATTGTGTGTATTAGTTTCCTAAGAATGCCAAT... |
Task1_train_33756 | A variant on Chromosome 1 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Benign | AATGAACCTGGTATGAGTAATGAAATTTCCATGACTACATTTACTTGTGTAAATTTCACCCATTCTAAGAGAAGATTTTTTTAGATGGTATAAATGACAGAATTTGTGCAGTTCTGCTCCTTTCTCACCCTAACACTGGGTAAGGAGATAAAATTAACAAGAGTAGCAAACAAAAGTATCAAACAGATGACACTCTCTCCTTTCATCCTCAAGTCTTCCAAGGAGAAAAGAGTTACTGAATAACCTTCTCTTGAGACATAGGCTCAGGATCTGCATGCACTGGTTAAGGTACTATCTTAAATATATTACTGCTTTGGAAC... | AATGAACCTGGTATGAGTAATGAAATTTCCATGACTACATTTACTTGTGTAAATTTCACCCATTCTAAGAGAAGATTTTTTTAGATGGTATAAATGACAGAATTTGTGCAGTTCTGCTCCTTTCTCACCCTAACACTGGGTAAGGAGATAAAATTAACAAGAGTAGCAAACAAAAGTATCAAACAGATGACACTCTCTCCTTTCATCCTCAAGTCTTCCAAGGAGAAAAGAGTTACTGAATAACCTTCTCTTGAGACATAGGCTCAGGATCTGCATGCACTGGTTAAGGTACTATCTTAAATATATTACTGCTTTGGAAC... |
Task1_train_33757 | A variant has been detected on Chromosome 1. What is its effect — pathogenic or benign? If pathogenic, name the disease. | Benign | TCTCTTGAGACATAGGCTCAGGATCTGCATGCACTGGTTAAGGTACTATCTTAAATATATTACTGCTTTGGAACCTGAAGCTCTAGATGAAGCAGAAAACTCCTTTCATTTGTTCTAAAACAAGTCCCTTTTGAAATTCAGGATGGCCAGAAATGGCAGGTTAACTTTCAGACACTTATATTGAAGATACACTGTCCCTGGAAGCTCTTAGTTATGTCCCACTGTGTGTTTAAAACTTATATTATTTCTTAAGTGTGTTTTACATACAGGAAATATAGCCTTTATCATAAAACTCTCTAAGACGATTTGATATCCAGTCT... | TCTCTTGAGACATAGGCTCAGGATCTGCATGCACTGGTTAAGGTACTATCTTAAATATATTACTGCTTTGGAACCTGAAGCTCTAGATGAAGCAGAAAACTCCTTTCATTTGTTCTAAAACAAGTCCCTTTTGAAATTCAGGATGGCCAGAAATGGCAGGTTAACTTTCAGACACTTATATTGAAGATACACTGTCCCTGGAAGCTCTTAGTTATGTCCCACTGTGTGTTTAAAACTTATATTATTTCTTAAGTGTGTTTTACATACAGGAAATATAGCCTTTATCATAAAACTCTCTAAGACGATTTGATATCCAGTCT... |
Task1_train_33758 | A sequence alteration has been identified on Chromosome 1. Is it disease-inducing or harmless? | Benign | GATCAGATAACTAGTCTGAAATACCACTTCTTTGAAACATGTCTATTTTTATACATATTTTGTGTTTTTATTAATGTCTTACGTTTGCTTGGAGATAATGTTCATTCCGTGGTTTTGTTGTTGTTGTTGTTTTAGTTTTCTCCTGAACATTAGGCTTAATTTTCTGGTTAGAATATTTTATCCTTACAAAATTTTAAAGGCTTAGTTTACCATTTGTAACTCAACGTGTTCTAAAATAATTTCTCTGATGGTGCATGAACCTGGTATGAGTAATGAAATTTCCACGACTACATGTACTTGTGTAATTTTCACCCATTCTA... | GATCAGATAACTAGTCTGAAATACCACTTCTTTGAAACATGTCTATTTTTATACATATTTTGTGTTTTTATTAATGTCTTACGTTTGCTTGGAGATAATGTTCATTCCGTGGTTTTGTTGTTGTTGTTGTTTTAGTTTTCTCCTGAACATTAGGCTTAATTTTCTGGTTAGAATATTTTATCCTTACAAAATTTTAAAGGCTTAGTTTACCATTTGTAACTCAACGTGTTCTAAAATAATTTCTCTGATGGTGCATGAACCTGGTATGAGTAATGAAATTTCCACGACTACATGTACTTGTGTAATTTTCACCCATTCTA... |
Task1_train_33759 | A mutation on Chromosome 1 is under examination. Does this mutation cause a disorder, or is it a benign change? | Benign | ATCTAGATGAAGCAGGAAACTCCTTTCACTTGTTCTAGAACAGTTACCTTTTGAAATTCAGGTTGGTCTGAAATGGCGGGTTAACTTTCAGACACTTATATTGAAGATACATTGTCCCTGGAAGCTCTTAGTTATTTCCTCCTTCGTGTTAAAAACTTATATTATTTCTTAAGTGTGTTTTACATATGGGAAATATAGCCTTTATCATAAAACTCTCTAAGACAATTTGATATCCAGTCTCTGATTACAATTTGGCTTTGATAACCACTGCTTTCCTCCATCACTATCTATCTTGTGTCTTTAATAATAGTATAGTCTTC... | ATCTAGATGAAGCAGGAAACTCCTTTCACTTGTTCTAGAACAGTTACCTTTTGAAATTCAGGTTGGTCTGAAATGGCGGGTTAACTTTCAGACACTTATATTGAAGATACATTGTCCCTGGAAGCTCTTAGTTATTTCCTCCTTCGTGTTAAAAACTTATATTATTTCTTAAGTGTGTTTTACATATGGGAAATATAGCCTTTATCATAAAACTCTCTAAGACAATTTGATATCCAGTCTCTGATTACAATTTGGCTTTGATAACCACTGCTTTCCTCCATCACTATCTATCTTGTGTCTTTAATAATAGTATAGTCTTC... |
Task1_train_33760 | A mutation on Chromosome 1 is under examination. Does this mutation cause a disorder, or is it a benign change? | Benign | TTCTTAAGTGTGTTTTACATATGGGAAATATAGCCTTTATCATAAAACTCTCTAAGACAATTTGATATCCAGTCTCTGATTACAATTTGGCTTTGATAACCACTGCTTTCCTCCATCACTATCTATCTTGTGTCTTTAATAATAGTATAGTCTTCTTTTATTCTTCTGCAAACTCCAAATCTTTAAAATGTGTCCCAAATTTTTCATCAGAAATATCTCTACTTACCTATGCCTTGGGAGAAGTAAGGTAACCCAATAATGTATAAGGTTGTTGAGTCTTACTCAGCTTTGATAACTCATTGTTAGTAACTGTCAAGATT... | TTCTTAAGTGTGTTTTACATATGGGAAATATAGCCTTTATCATAAAACTCTCTAAGACAATTTGATATCCAGTCTCTGATTACAATTTGGCTTTGATAACCACTGCTTTCCTCCATCACTATCTATCTTGTGTCTTTAATAATAGTATAGTCTTCTTTTATTCTTCTGCAAACTCCAAATCTTTAAAATGTGTCCCAAATTTTTCATCAGAAATATCTCTACTTACCTATGCCTTGGGAGAAGTAAGGTAACCCAATAATGTATAAGGTTGTTGAGTCTTACTCAGCTTTGATAACTCATTGTTAGTAACTGTCAAGATT... |
Task1_train_33761 | A variant was discovered on Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Benign | GAAATATAGCCTTTATCATAAAACTCTCTAAGACAATTTGATATCCAGTCTCTGATTACAATTTGGCTTTGATAACCACTGCTTTCCTCCATCACTATCTATCTTGTGTCTTTAATAATAGTATAGTCTTCTTTTATTCTTCTGCAAACTCCAAATCTTTAAAATGTGTCCCAAATTTTTCATCAGAAATATCTCTACTTACCTATGCCTTGGGAGAAGTAAGGTAACCCAATAATGTATAAGGTTGTTGAGTCTTACTCAGCTTTGATAACTCATTGTTAGTAACTGTCAAGATTCAGCATGATCATGCAATTCAGAGT... | GAAATATAGCCTTTATCATAAAACTCTCTAAGACAATTTGATATCCAGTCTCTGATTACAATTTGGCTTTGATAACCACTGCTTTCCTCCATCACTATCTATCTTGTGTCTTTAATAATAGTATAGTCTTCTTTTATTCTTCTGCAAACTCCAAATCTTTAAAATGTGTCCCAAATTTTTCATCAGAAATATCTCTACTTACCTATGCCTTGGGAGAAGTAAGGTAACCCAATAATGTATAAGGTTGTTGAGTCTTACTCAGCTTTGATAACTCATTGTTAGTAACTGTCAAGATTCAGCATGATCATGCAATTCAGAGT... |
Task1_train_33762 | Given this context: Chromosome 1 — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Benign | TCTGGAAATATCACATTACCCAACTTCAGATTGTACTATAAAGTCATTATCATGAAAACAGCATGGTACTGGTATAAAAATAGGCACATGGACAAACCAAATAGAATAGAGAACCCAGAAATAATGTCAAATATTTACAGCAAACTGGTTTTCCACAAAGCAAACAAAAACATAAAGTGGGGAAAGGACAACCTATTCAACAAATGCTGCTGGGATAATTGGCGCGCCACATGTAGGATAATGAAACGGAATCCTCATCTCTCACCTTATACAAAAATAAATTCAAGGCCAATCAAAGACTTACGTCTAAAACCTGAAAC... | TCTGGAAATATCACATTACCCAACTTCAGATTGTACTATAAAGTCATTATCATGAAAACAGCATGGTACTGGTATAAAAATAGGCACATGGACAAACCAAATAGAATAGAGAACCCAGAAATAATGTCAAATATTTACAGCAAACTGGTTTTCCACAAAGCAAACAAAAACATAAAGTGGGGAAAGGACAACCTATTCAACAAATGCTGCTGGGATAATTGGCGCGCCACATGTAGGATAATGAAACGGAATCCTCATCTCTCACCTTATACAAAAATAAATTCAAGGCCAATCAAAGACTTACGTCTAAAACCTGAAAC... |
Task1_train_33763 | Here’s a variant located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Benign | TAAAGTCATTATCATGAAAACAGCATGGTACTGGTATAAAAATAGGCACATGGACAAACCAAATAGAATAGAGAACCCAGAAATAATGTCAAATATTTACAGCAAACTGGTTTTCCACAAAGCAAACAAAAACATAAAGTGGGGAAAGGACAACCTATTCAACAAATGCTGCTGGGATAATTGGCGCGCCACATGTAGGATAATGAAACGGAATCCTCATCTCTCACCTTATACAAAAATAAATTCAAGGCCAATCAAAGACTTACGTCTAAAACCTGAAACCATAAAGATTCTAGAAGATAACATCGGGAACACCCTTC... | TAAAGTCATTATCATGAAAACAGCATGGTACTGGTATAAAAATAGGCACATGGACAAACCAAATAGAATAGAGAACCCAGAAATAATGTCAAATATTTACAGCAAACTGGTTTTCCACAAAGCAAACAAAAACATAAAGTGGGGAAAGGACAACCTATTCAACAAATGCTGCTGGGATAATTGGCGCGCCACATGTAGGATAATGAAACGGAATCCTCATCTCTCACCTTATACAAAAATAAATTCAAGGCCAATCAAAGACTTACGTCTAAAACCTGAAACCATAAAGATTCTAGAAGATAACATCGGGAACACCCTTC... |
Task1_train_33764 | A mutation found on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Benign | TAACATCGGGAACACCCTTCTAGATATTGGCTTAGGCAAAGACTTCATGATCGAGAACCCAAAAGAAAATGCAAAAAAAAAAAAAAAAAAGAGGTGCGGGGATAAAAGATAAGACTAAATTAAACTAAAAAACTTCTGCAAAGCAAAAGAAATAATCAACAGAGTTAACAGACAACCCAGAGAGTGGGAGAAAATCTTCTCAATCTATACATCTGGCAATGGAATAATATCCAGAATCTACAAAGAACTCAAACAAATTAGCAAGAAGAAAACAAACAATCCCATCAAACTGGGATTGGGCTAAGGGACTTGAATAGACA... | TAACATCGGGAACACCCTTCTAGATATTGGCTTAGGCAAAGACTTCATGATCGAGAACCCAAAAGAAAATGCAAAAAAAAAAAAAAAAAAGAGGTGCGGGGATAAAAGATAAGACTAAATTAAACTAAAAAACTTCTGCAAAGCAAAAGAAATAATCAACAGAGTTAACAGACAACCCAGAGAGTGGGAGAAAATCTTCTCAATCTATACATCTGGCAATGGAATAATATCCAGAATCTACAAAGAACTCAAACAAATTAGCAAGAAGAAAACAAACAATCCCATCAAACTGGGATTGGGCTAAGGGACTTGAATAGACA... |
Task1_train_33765 | This alteration on Chromosome 1 may affect genome function. Does it lead to a disease or is it benign? | Benign | ACTTATTCTGTTTCATTTATTCACAAAACTCCTGTGATAGCAGCATTAGGTGTATATATTGATTGAACAATCAGTGAATCAAGGACTACGTCACTGAATGAGCCCATATTGTTTAAATTGATCACAGTAGTACACACCATGATTCTGCTTTTACAGATGGAGGGAATTTTCCTTGGGTGAAGAATGTTGCCAACTTTACATGGCTGGTAAGTGGGAGTGATACAGCCCAAGCCTCCTGTCTCCCTCTTCTACAGTGAAGGTTCTGCTGAACCTTCCATGTGATAATTTGTCCTGCTTAAAAATATTTTGGACACATACTG... | ACTTATTCTGTTTCATTTATTCACAAAACTCCTGTGATAGCAGCATTAGGTGTATATATTGATTGAACAATCAGTGAATCAAGGACTACGTCACTGAATGAGCCCATATTGTTTAAATTGATCACAGTAGTACACACCATGATTCTGCTTTTACAGATGGAGGGAATTTTCCTTGGGTGAAGAATGTTGCCAACTTTACATGGCTGGTAAGTGGGAGTGATACAGCCCAAGCCTCCTGTCTCCCTCTTCTACAGTGAAGGTTCTGCTGAACCTTCCATGTGATAATTTGTCCTGCTTAAAAATATTTTGGACACATACTG... |
Task1_train_33766 | This alteration occurs on Chromosome 1. Is it associated with a disease or is it a benign variant? | Benign | CAGTGAAGGTTCTGCTGAACCTTCCATGTGATAATTTGTCCTGCTTAAAAATATTTTGGACACATACTGTATTTACCTAATACAATAATACATGAAACTTATAGATGGTAAAATTCTAATTGGATCATCAACATAAAAGTATAAGGAAAAATTATCATTAGCTCATCATCATGAAAATATGAAGCCATTCTTTTTTCCCCCTTTTTTTAAAAATTAGCCTTTATTTTAAGTGCAGAGGTACATGTGCAGGTTTGTTATATAGGTAAACTTGTGTCACGGGTGTTTGTTGTACAGATTATTTCATCACCCAGGTATTAATC... | CAGTGAAGGTTCTGCTGAACCTTCCATGTGATAATTTGTCCTGCTTAAAAATATTTTGGACACATACTGTATTTACCTAATACAATAATACATGAAACTTATAGATGGTAAAATTCTAATTGGATCATCAACATAAAAGTATAAGGAAAAATTATCATTAGCTCATCATCATGAAAATATGAAGCCATTCTTTTTTCCCCCTTTTTTTAAAAATTAGCCTTTATTTTAAGTGCAGAGGTACATGTGCAGGTTTGTTATATAGGTAAACTTGTGTCACGGGTGTTTGTTGTACAGATTATTTCATCACCCAGGTATTAATC... |
Task1_train_33767 | This alteration occurs on Chromosome 1. Is it associated with a disease or is it a benign variant? | Benign | ACCTTCCATGTGATAATTTGTCCTGCTTAAAAATATTTTGGACACATACTGTATTTACCTAATACAATAATACATGAAACTTATAGATGGTAAAATTCTAATTGGATCATCAACATAAAAGTATAAGGAAAAATTATCATTAGCTCATCATCATGAAAATATGAAGCCATTCTTTTTTCCCCCTTTTTTTAAAAATTAGCCTTTATTTTAAGTGCAGAGGTACATGTGCAGGTTTGTTATATAGGTAAACTTGTGTCACGGGTGTTTGTTGTACAGATTATTTCATCACCCAGGTATTAATCCTAGTAGCCACTAGTTAT... | ACCTTCCATGTGATAATTTGTCCTGCTTAAAAATATTTTGGACACATACTGTATTTACCTAATACAATAATACATGAAACTTATAGATGGTAAAATTCTAATTGGATCATCAACATAAAAGTATAAGGAAAAATTATCATTAGCTCATCATCATGAAAATATGAAGCCATTCTTTTTTCCCCCTTTTTTTAAAAATTAGCCTTTATTTTAAGTGCAGAGGTACATGTGCAGGTTTGTTATATAGGTAAACTTGTGTCACGGGTGTTTGTTGTACAGATTATTTCATCACCCAGGTATTAATCCTAGTAGCCACTAGTTAT... |
Task1_train_33768 | This alteration on Chromosome 1 may affect genome function. Does it lead to a disease or is it benign? | Benign | CCAGTCTCCGCATCTAATTATTATTCTCCAAAACTTGAAAATATTAATAAGTCTAATTAGAATTATTAAAAGAATTCAAAATGTATTTGAAACTTGGAAATTCTTCCTGAAATATGACTGTATGATAACCACTGCTAAAGTCTTCCCTGAAAAAGGACCCTATATTTTCTTCCTATTGATAAATACTAAAATTTAACAACATGTCAGAAATCGAAAAGTTGCAAAGTTTTAATCTTCTTAAGAGAAAATGTAGGAGTTATCAGTGATTCTCTTCAGAAAGGTTAAATGTATTTTGCTTCTATTAGCCTTGTTAATGTAGC... | CCAGTCTCCGCATCTAATTATTATTCTCCAAAACTTGAAAATATTAATAAGTCTAATTAGAATTATTAAAAGAATTCAAAATGTATTTGAAACTTGGAAATTCTTCCTGAAATATGACTGTATGATAACCACTGCTAAAGTCTTCCCTGAAAAAGGACCCTATATTTTCTTCCTATTGATAAATACTAAAATTTAACAACATGTCAGAAATCGAAAAGTTGCAAAGTTTTAATCTTCTTAAGAGAAAATGTAGGAGTTATCAGTGATTCTCTTCAGAAAGGTTAAATGTATTTTGCTTCTATTAGCCTTGTTAATGTAGC... |
Task1_train_33769 | This variant is found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Benign | GCTAAAGTCTTCCCTGAAAAAGGACCCTATATTTTCTTCCTATTGATAAATACTAAAATTTAACAACATGTCAGAAATCGAAAAGTTGCAAAGTTTTAATCTTCTTAAGAGAAAATGTAGGAGTTATCAGTGATTCTCTTCAGAAAGGTTAAATGTATTTTGCTTCTATTAGCCTTGTTAATGTAGCTCATAGCTATTCTAATCTGAAGTTGTACTTTAAATCATGTTTATATGTTTTTTCCTGAATAGACTGACTGTGACCTCCTCAAGCTTAATCAAATATAATTTGTCTTTGATTCCTGCACTAGCTAACACAGAGT... | GCTAAAGTCTTCCCTGAAAAAGGACCCTATATTTTCTTCCTATTGATAAATACTAAAATTTAACAACATGTCAGAAATCGAAAAGTTGCAAAGTTTTAATCTTCTTAAGAGAAAATGTAGGAGTTATCAGTGATTCTCTTCAGAAAGGTTAAATGTATTTTGCTTCTATTAGCCTTGTTAATGTAGCTCATAGCTATTCTAATCTGAAGTTGTACTTTAAATCATGTTTATATGTTTTTTCCTGAATAGACTGACTGTGACCTCCTCAAGCTTAATCAAATATAATTTGTCTTTGATTCCTGCACTAGCTAACACAGAGT... |
Task1_train_33770 | This variant is present on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Benign | GTTTTAATCTTCTTAAGAGAAAATGTAGGAGTTATCAGTGATTCTCTTCAGAAAGGTTAAATGTATTTTGCTTCTATTAGCCTTGTTAATGTAGCTCATAGCTATTCTAATCTGAAGTTGTACTTTAAATCATGTTTATATGTTTTTTCCTGAATAGACTGACTGTGACCTCCTCAAGCTTAATCAAATATAATTTGTCTTTGATTCCTGCACTAGCTAACACAGAGTCAGGCTGTGAGTAGCAAGATAGAGGAAGGAATTTAATTGAAGTGAGAGACATCTTAGTGTTTTATTTTCTTTTCTGCCTCACAGTTTCCGTG... | GTTTTAATCTTCTTAAGAGAAAATGTAGGAGTTATCAGTGATTCTCTTCAGAAAGGTTAAATGTATTTTGCTTCTATTAGCCTTGTTAATGTAGCTCATAGCTATTCTAATCTGAAGTTGTACTTTAAATCATGTTTATATGTTTTTTCCTGAATAGACTGACTGTGACCTCCTCAAGCTTAATCAAATATAATTTGTCTTTGATTCCTGCACTAGCTAACACAGAGTCAGGCTGTGAGTAGCAAGATAGAGGAAGGAATTTAATTGAAGTGAGAGACATCTTAGTGTTTTATTTTCTTTTCTGCCTCACAGTTTCCGTG... |
Task1_train_33771 | A mutation on Chromosome 1 is under examination. Does this mutation cause a disorder, or is it a benign change? | Benign | CTTCAGAAAGGTTAAATGTATTTTGCTTCTATTAGCCTTGTTAATGTAGCTCATAGCTATTCTAATCTGAAGTTGTACTTTAAATCATGTTTATATGTTTTTTCCTGAATAGACTGACTGTGACCTCCTCAAGCTTAATCAAATATAATTTGTCTTTGATTCCTGCACTAGCTAACACAGAGTCAGGCTGTGAGTAGCAAGATAGAGGAAGGAATTTAATTGAAGTGAGAGACATCTTAGTGTTTTATTTTCTTTTCTGCCTCACAGTTTCCGTGAAAAAATTCACTGTAGCAGGCAATAAAGCAGATATTTGCAAAAAC... | CTTCAGAAAGGTTAAATGTATTTTGCTTCTATTAGCCTTGTTAATGTAGCTCATAGCTATTCTAATCTGAAGTTGTACTTTAAATCATGTTTATATGTTTTTTCCTGAATAGACTGACTGTGACCTCCTCAAGCTTAATCAAATATAATTTGTCTTTGATTCCTGCACTAGCTAACACAGAGTCAGGCTGTGAGTAGCAAGATAGAGGAAGGAATTTAATTGAAGTGAGAGACATCTTAGTGTTTTATTTTCTTTTCTGCCTCACAGTTTCCGTGAAAAAATTCACTGTAGCAGGCAATAAAGCAGATATTTGCAAAAAC... |
Task1_train_33772 | The following genetic variant occurs on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Benign | GCCTTACCTGGTAAATAGCAGGGAGTTTCTAAATCCCAGTTATGCCCCCCTGAGATTTAATGCGAATGACAGGAGCTTTAAGGAGTTAAGCTTGGAGAAGCATGCACTAGTCACAAAGAAGGTGGATTCTGCATAAATCTCTGCTCAACATGAAAATAAGAGACATACCTTACATTAATATATGCATTTCTATTTGTAAATATGCATATACAATGTATTCTTATATTTGTAAATCTGCACATATATAAAAATGCATATCTATAAATTTATATAAAATAAATGTAAACTGTATACATACAAGTTGTCTGGGACTAGAGAAA... | GCCTTACCTGGTAAATAGCAGGGAGTTTCTAAATCCCAGTTATGCCCCCCTGAGATTTAATGCGAATGACAGGAGCTTTAAGGAGTTAAGCTTGGAGAAGCATGCACTAGTCACAAAGAAGGTGGATTCTGCATAAATCTCTGCTCAACATGAAAATAAGAGACATACCTTACATTAATATATGCATTTCTATTTGTAAATATGCATATACAATGTATTCTTATATTTGTAAATCTGCACATATATAAAAATGCATATCTATAAATTTATATAAAATAAATGTAAACTGTATACATACAAGTTGTCTGGGACTAGAGAAA... |
Task1_train_33773 | A mutation is present on Chromosome 1. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | GGATTCTGCATAAATCTCTGCTCAACATGAAAATAAGAGACATACCTTACATTAATATATGCATTTCTATTTGTAAATATGCATATACAATGTATTCTTATATTTGTAAATCTGCACATATATAAAAATGCATATCTATAAATTTATATAAAATAAATGTAAACTGTATACATACAAGTTGTCTGGGACTAGAGAAATTATCAAATCCAAATTCTTACAAGTCTGACTAAATGATAAAATCAGCAAACTGAAGTAATGAAGCTCATATCATAAGATGATTATAGTAATACAGTCTGCAGAATAATTTGTGTAGATATTAA... | GGATTCTGCATAAATCTCTGCTCAACATGAAAATAAGAGACATACCTTACATTAATATATGCATTTCTATTTGTAAATATGCATATACAATGTATTCTTATATTTGTAAATCTGCACATATATAAAAATGCATATCTATAAATTTATATAAAATAAATGTAAACTGTATACATACAAGTTGTCTGGGACTAGAGAAATTATCAAATCCAAATTCTTACAAGTCTGACTAAATGATAAAATCAGCAAACTGAAGTAATGAAGCTCATATCATAAGATGATTATAGTAATACAGTCTGCAGAATAATTTGTGTAGATATTAA... |
Task1_train_33774 | Mutation context: Chromosome 1. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Benign | AGACAATGCACAAGCCTGCAGCCCTGCCTAGTTAGTGTTCAACAGGTGACACATAATTTTAGAGTGTGTCCCCTAGTGCTCAACAGGTGACACGTGCTTTTTAGAGTGTGTCTCCTATTGTTTGTGCCTGTGGTATACACACAGTAGCTAAGAAATGCAATATTGCCTTCGGCAAGATATTGTGTGTCCTCATTATCAGCATTCTCTCACAAGCGCAACAGCTTATCATAGATTAGCATTTGAATTTACTCAGCTGTGGTCCTTTGCATATGTTACATGACGTTTGATCATGACAACATCCCGTAAGTTTCCTGTGATAT... | AGACAATGCACAAGCCTGCAGCCCTGCCTAGTTAGTGTTCAACAGGTGACACATAATTTTAGAGTGTGTCCCCTAGTGCTCAACAGGTGACACGTGCTTTTTAGAGTGTGTCTCCTATTGTTTGTGCCTGTGGTATACACACAGTAGCTAAGAAATGCAATATTGCCTTCGGCAAGATATTGTGTGTCCTCATTATCAGCATTCTCTCACAAGCGCAACAGCTTATCATAGATTAGCATTTGAATTTACTCAGCTGTGGTCCTTTGCATATGTTACATGACGTTTGATCATGACAACATCCCGTAAGTTTCCTGTGATAT... |
Task1_train_33775 | This alteration on Chromosome 1 may affect genome function. Does it lead to a disease or is it benign? | Benign | TGCACAAGCCTGCAGCCCTGCCTAGTTAGTGTTCAACAGGTGACACATAATTTTAGAGTGTGTCCCCTAGTGCTCAACAGGTGACACGTGCTTTTTAGAGTGTGTCTCCTATTGTTTGTGCCTGTGGTATACACACAGTAGCTAAGAAATGCAATATTGCCTTCGGCAAGATATTGTGTGTCCTCATTATCAGCATTCTCTCACAAGCGCAACAGCTTATCATAGATTAGCATTTGAATTTACTCAGCTGTGGTCCTTTGCATATGTTACATGACGTTTGATCATGACAACATCCCGTAAGTTTCCTGTGATATCCTAAT... | TGCACAAGCCTGCAGCCCTGCCTAGTTAGTGTTCAACAGGTGACACATAATTTTAGAGTGTGTCCCCTAGTGCTCAACAGGTGACACGTGCTTTTTAGAGTGTGTCTCCTATTGTTTGTGCCTGTGGTATACACACAGTAGCTAAGAAATGCAATATTGCCTTCGGCAAGATATTGTGTGTCCTCATTATCAGCATTCTCTCACAAGCGCAACAGCTTATCATAGATTAGCATTTGAATTTACTCAGCTGTGGTCCTTTGCATATGTTACATGACGTTTGATCATGACAACATCCCGTAAGTTTCCTGTGATATCCTAAT... |
Task1_train_33776 | A mutation on Chromosome 1 has been found. Is it harmful or harmless? What disease, if any, does it cause? | Benign | CTATCTAAGATTGTGTATGGTTTCCTGCCTCTGGCCTACAAGATCTTTTATGCATTTCCTTCAGTCACCATCTCCAAGGCTTACGACTGACCAACCAAATCAGGAAGTTTTGAGTGAAATGAGGAGGACATTAGGACAGAAAGCACAACCTGGTCTATCCCAGTCTAAGCCTTCAAGACCCACAAAAATACAACACTAAGCAAAAACAAAAAATGACTCAAATGTACCAAAGAGATAAAAAGAAAAAAACAGAAAGATCATAATGAACATGTTAAAGTTAAACTGTTACATGTTACAAACTGCAACTCAATTCTACTGAT... | CTATCTAAGATTGTGTATGGTTTCCTGCCTCTGGCCTACAAGATCTTTTATGCATTTCCTTCAGTCACCATCTCCAAGGCTTACGACTGACCAACCAAATCAGGAAGTTTTGAGTGAAATGAGGAGGACATTAGGACAGAAAGCACAACCTGGTCTATCCCAGTCTAAGCCTTCAAGACCCACAAAAATACAACACTAAGCAAAAACAAAAAATGACTCAAATGTACCAAAGAGATAAAAAGAAAAAAACAGAAAGATCATAATGAACATGTTAAAGTTAAACTGTTACATGTTACAAACTGCAACTCAATTCTACTGAT... |
Task1_train_33777 | A mutation has occurred on Chromosome 1. What is the medical relevance of this mutation? | Benign | ATAAAAGATCATCCTTTATATTCTTGAAGTTTGTTGTGGATTTTACTGTAACCTGAAATTGTATAAAACAGTCCCTCAGTTTTTCTTAATTGCCAGAGCTACGGAAAAATTCCAATTTCCAAAAATCATCGGTGAGTTATACCTCAATATGTATGTCCCTGTGCTATTACATATACGTGTGTGTGTGTGTGTATAAAATGGGAGTAAGGGTGAACAGACAGCAGAGACCACTGTTTGACTTTGTGAAGCAGCACATGATTTTCCCTCTGTTTCTGGTGTCTTATCGCATGATAAAAGTCAAACCGAAAATGTAGGAAGTG... | ATAAAAGATCATCCTTTATATTCTTGAAGTTTGTTGTGGATTTTACTGTAACCTGAAATTGTATAAAACAGTCCCTCAGTTTTTCTTAATTGCCAGAGCTACGGAAAAATTCCAATTTCCAAAAATCATCGGTGAGTTATACCTCAATATGTATGTCCCTGTGCTATTACATATACGTGTGTGTGTGTGTGTATAAAATGGGAGTAAGGGTGAACAGACAGCAGAGACCACTGTTTGACTTTGTGAAGCAGCACATGATTTTCCCTCTGTTTCTGGTGTCTTATCGCATGATAAAAGTCAAACCGAAAATGTAGGAAGTG... |
Task1_train_33778 | Chromosome 1 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Benign | TGTGCCTCTCGGGAAATATTTACGGAATGAATTGATGTCTACTTTGTCCTGTTGGAAAACAGCATAGAACAAATTATACTGTCACTGTTTAAAGAACAATGTTCCTCCTTGGGGAAGTTTCCTTAAGCCTCATTTTCAACTGTAGAATGGTCTAGTATCTTACACAGTTGTTTGGAAATGTAAAATTTACGAATCAGTTATTAATGTTCTTACTGCTATTTGCAGGTGAATGCATATACAAGTAAAGCCATTTTTCTAATTTGGTACACACCTAAATTTTTTGGCTCAATTCTAATTTGTGGTGTTTAATTCTGGAGGAC... | TGTGCCTCTCGGGAAATATTTACGGAATGAATTGATGTCTACTTTGTCCTGTTGGAAAACAGCATAGAACAAATTATACTGTCACTGTTTAAAGAACAATGTTCCTCCTTGGGGAAGTTTCCTTAAGCCTCATTTTCAACTGTAGAATGGTCTAGTATCTTACACAGTTGTTTGGAAATGTAAAATTTACGAATCAGTTATTAATGTTCTTACTGCTATTTGCAGGTGAATGCATATACAAGTAAAGCCATTTTTCTAATTTGGTACACACCTAAATTTTTTGGCTCAATTCTAATTTGTGGTGTTTAATTCTGGAGGAC... |
Task1_train_33779 | Given this variant on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Benign | GCCTTAGAATGGTGAAAGCAGCTTCACTGAGCTGGCGTGGCTTAGATTTATTGTCTGATGGAACAGAAAAGATGGAGCAAAAGGTTTGTGCTCTATGTGCCGTGTTCGTCTCTTTGTTGAAAGGTGTCTTGATGACCTGTCTCTTCAGTGCTTTATAAAGGGGATAAGTAAGGAACAAAGATACCTGACTCTTGTTGCTAGCTCTTCATAATTCTGACTTTAGGTTTCCTGAAGTCCCAGGGTTTTTTTTTGTTTTGTCTCTTGTTTTGTGTGTGTGCTTTGTTTTTGTTTTGTTTTTTTGTTTTTTTGCCCTAGGAACA... | GCCTTAGAATGGTGAAAGCAGCTTCACTGAGCTGGCGTGGCTTAGATTTATTGTCTGATGGAACAGAAAAGATGGAGCAAAAGGTTTGTGCTCTATGTGCCGTGTTCGTCTCTTTGTTGAAAGGTGTCTTGATGACCTGTCTCTTCAGTGCTTTATAAAGGGGATAAGTAAGGAACAAAGATACCTGACTCTTGTTGCTAGCTCTTCATAATTCTGACTTTAGGTTTCCTGAAGTCCCAGGGTTTTTTTTTGTTTTGTCTCTTGTTTTGTGTGTGTGCTTTGTTTTTGTTTTGTTTTTTTGTTTTTTTGCCCTAGGAACA... |
Task1_train_33780 | A mutation on Chromosome 1 has been found. Is it harmful or harmless? What disease, if any, does it cause? | Benign | TACTTATGTAACGTGCACGTTCTGCACATGTACCCTAGAACTTATAGTTTAAAAAAAAGTTTGCTTTGGCTTTCGATGTAATTCTACTTAGACAACTCTTATACATATAGAGTAACATGTACACACATTTCATTTTACAAATTCTCCCTTTTATTTTGACTTGGCATTTGACAATATCACTTTGATAGTAGCTTGTGAATATTAGTCAAGATTTGTATAGAGGTCGGGCACAGTGACTCATGCCTGTAACCCCAGCACTTTGGGAGGCTGAGTCAGGTGGATCACTTGAGGTCAGTTGTTCAAGAGCACCCTAGCCAACA... | TACTTATGTAACGTGCACGTTCTGCACATGTACCCTAGAACTTATAGTTTAAAAAAAAGTTTGCTTTGGCTTTCGATGTAATTCTACTTAGACAACTCTTATACATATAGAGTAACATGTACACACATTTCATTTTACAAATTCTCCCTTTTATTTTGACTTGGCATTTGACAATATCACTTTGATAGTAGCTTGTGAATATTAGTCAAGATTTGTATAGAGGTCGGGCACAGTGACTCATGCCTGTAACCCCAGCACTTTGGGAGGCTGAGTCAGGTGGATCACTTGAGGTCAGTTGTTCAAGAGCACCCTAGCCAACA... |
Task1_train_33781 | A genetic alteration is present on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Benign | TTTTCCAAAGAGGCAATACAAATAGCCAACAGGTGAATGAAAAGATGTTCAACATCACTAATCATCAGGGCCACACAAATCAAAACCACAATGAGATATCAGCTCACACCTGCTAGGATGGCTATTACCAGGCAATACATAGCAAGTGCTGTCAAGTGTGTGTAGGAAATGGAACACTTGTACATGTGCATTGCTGGTAGAAACGTAAGTTGCAACAGCCTGTGTTGAAAGCTGTATGACAGTTCTATAAAGATTAAAAATAGAGCTACTCTATAATTCAGCAATCCCACTCTGTACACCTTCCTGAGGTAAATAATTAT... | TTTTCCAAAGAGGCAATACAAATAGCCAACAGGTGAATGAAAAGATGTTCAACATCACTAATCATCAGGGCCACACAAATCAAAACCACAATGAGATATCAGCTCACACCTGCTAGGATGGCTATTACCAGGCAATACATAGCAAGTGCTGTCAAGTGTGTGTAGGAAATGGAACACTTGTACATGTGCATTGCTGGTAGAAACGTAAGTTGCAACAGCCTGTGTTGAAAGCTGTATGACAGTTCTATAAAGATTAAAAATAGAGCTACTCTATAATTCAGCAATCCCACTCTGTACACCTTCCTGAGGTAAATAATTAT... |
Task1_train_33782 | Located on Chromosome 1, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | CTAATCATCAGGGCCACACAAATCAAAACCACAATGAGATATCAGCTCACACCTGCTAGGATGGCTATTACCAGGCAATACATAGCAAGTGCTGTCAAGTGTGTGTAGGAAATGGAACACTTGTACATGTGCATTGCTGGTAGAAACGTAAGTTGCAACAGCCTGTGTTGAAAGCTGTATGACAGTTCTATAAAGATTAAAAATAGAGCTACTCTATAATTCAGCAATCCCACTCTGTACACCTTCCTGAGGTAAATAATTATATAAATAATATAATGACAACATAAGAACATTGTTAAATTAGTCATCTGTGGTGTCCA... | CTAATCATCAGGGCCACACAAATCAAAACCACAATGAGATATCAGCTCACACCTGCTAGGATGGCTATTACCAGGCAATACATAGCAAGTGCTGTCAAGTGTGTGTAGGAAATGGAACACTTGTACATGTGCATTGCTGGTAGAAACGTAAGTTGCAACAGCCTGTGTTGAAAGCTGTATGACAGTTCTATAAAGATTAAAAATAGAGCTACTCTATAATTCAGCAATCCCACTCTGTACACCTTCCTGAGGTAAATAATTATATAAATAATATAATGACAACATAAGAACATTGTTAAATTAGTCATCTGTGGTGTCCA... |
Task1_train_33783 | With a mutation on Chromosome 1, classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Benign | ATATCTTCAACATGATTTTTCATACATTTAAGTTTTGCACAAATCTAAACTGTATATTACATTAAAATTATTGCTAAGTCAATATTGATTATGACTCATTTACATATTACTCTTTGGGGTTGATGTTTGTCATTTTTGCTTATATTTCTGAGTTTACTTTTGAGATAATTTTTCTATGGCTGAAGAATTTTATCCACTTTTGTTTGTTGGAAAAATTTATTTTACTATCATTTTTTATAATTGGAGTTAGACTCAATCTACATCTAGTTCATCCCTATTACTGAGACATGGTCCTACTGGACTCTTGATTGACAGGCTGG... | ATATCTTCAACATGATTTTTCATACATTTAAGTTTTGCACAAATCTAAACTGTATATTACATTAAAATTATTGCTAAGTCAATATTGATTATGACTCATTTACATATTACTCTTTGGGGTTGATGTTTGTCATTTTTGCTTATATTTCTGAGTTTACTTTTGAGATAATTTTTCTATGGCTGAAGAATTTTATCCACTTTTGTTTGTTGGAAAAATTTATTTTACTATCATTTTTTATAATTGGAGTTAGACTCAATCTACATCTAGTTCATCCCTATTACTGAGACATGGTCCTACTGGACTCTTGATTGACAGGCTGG... |
Task1_train_33784 | Here is a mutation located on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Benign | AGTTAGACTCAATCTACATCTAGTTCATCCCTATTACTGAGACATGGTCCTACTGGACTCTTGATTGACAGGCTGGTAGATGTCCCTATGCTCTGTCTTGAAAGCATTTCTCCCAATATCAATGTGGCTCATTAACTTGTAAACTCCACATCTTTGCTCAACTATAACCAGTGAGGATTAGCCTAAATCCCTACATAAAACGTGACCCCTACACACTCCAAGACCCCTCTCCTGCTCAAGATTTTCCAACACTTTTCTTCTGATAATACTCCATGTCTTCTTCTCAATTACCAAATTTATTTTCTGTATACACCCTTTAA... | AGTTAGACTCAATCTACATCTAGTTCATCCCTATTACTGAGACATGGTCCTACTGGACTCTTGATTGACAGGCTGGTAGATGTCCCTATGCTCTGTCTTGAAAGCATTTCTCCCAATATCAATGTGGCTCATTAACTTGTAAACTCCACATCTTTGCTCAACTATAACCAGTGAGGATTAGCCTAAATCCCTACATAAAACGTGACCCCTACACACTCCAAGACCCCTCTCCTGCTCAAGATTTTCCAACACTTTTCTTCTGATAATACTCCATGTCTTCTTCTCAATTACCAAATTTATTTTCTGTATACACCCTTTAA... |
Task1_train_33785 | This genomic variant is located on Chromosome 1. Can you determine its pathogenicity and name any linked disease? | Benign | ATTGACAGGCTGGTAGATGTCCCTATGCTCTGTCTTGAAAGCATTTCTCCCAATATCAATGTGGCTCATTAACTTGTAAACTCCACATCTTTGCTCAACTATAACCAGTGAGGATTAGCCTAAATCCCTACATAAAACGTGACCCCTACACACTCCAAGACCCCTCTCCTGCTCAAGATTTTCCAACACTTTTCTTCTGATAATACTCCATGTCTTCTTCTCAATTACCAAATTTATTTTCTGTATACACCCTTTAAGTGCTAAAAAAGATGAAGATTTTTATTTGTTTTGCTCACTGATGTATCCTCAGTTTGTAGAAC... | ATTGACAGGCTGGTAGATGTCCCTATGCTCTGTCTTGAAAGCATTTCTCCCAATATCAATGTGGCTCATTAACTTGTAAACTCCACATCTTTGCTCAACTATAACCAGTGAGGATTAGCCTAAATCCCTACATAAAACGTGACCCCTACACACTCCAAGACCCCTCTCCTGCTCAAGATTTTCCAACACTTTTCTTCTGATAATACTCCATGTCTTCTTCTCAATTACCAAATTTATTTTCTGTATACACCCTTTAAGTGCTAAAAAAGATGAAGATTTTTATTTGTTTTGCTCACTGATGTATCCTCAGTTTGTAGAAC... |
Task1_train_33786 | A mutation on Chromosome 1 is under examination. Does this mutation cause a disorder, or is it a benign change? | Benign | ACTAAGGTTACAAGTAACCTTTCATGTTGCTAAATACAGTAACCAAATCTCACTTATTTCAACCATAGACTGCACTTGTTGCAGTTGCTTTTACTTTCTTTAAACACTTTGTCTTAGATTTCTTCTAACCTCATAAAACCCTATCTTTCTAATTTTTCATGTGACGCCAGCTGCCTCAGATCTCAGTCTCAAGCTTTCTCTTAAGAAAACTCTCAAAAAACCTGTTTTTAAATGCTCTTCGTACTCTGATTATTAAATGTATGCTTTATGTTCAGAACTCTAATCTGAAGTACAATTGACTTTACATATAGCTTCAATAT... | ACTAAGGTTACAAGTAACCTTTCATGTTGCTAAATACAGTAACCAAATCTCACTTATTTCAACCATAGACTGCACTTGTTGCAGTTGCTTTTACTTTCTTTAAACACTTTGTCTTAGATTTCTTCTAACCTCATAAAACCCTATCTTTCTAATTTTTCATGTGACGCCAGCTGCCTCAGATCTCAGTCTCAAGCTTTCTCTTAAGAAAACTCTCAAAAAACCTGTTTTTAAATGCTCTTCGTACTCTGATTATTAAATGTATGCTTTATGTTCAGAACTCTAATCTGAAGTACAATTGACTTTACATATAGCTTCAATAT... |
Task1_train_33787 | This variant is located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Benign | TTCTGTATTTATGTATTTATCTTGAGACAAGGCCTCTCTGCCAGTCAGGCTGGAGCACAGTGGTGCCATCACGGCTCACTGCAGCCTCAACTTCTCAGCCTCCCGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACATCCAACTGATATTTGTGTTTTTGGTAGATGGGGTTTTGCTATGTTGGCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCCACCCTCCTTGGTCTCCACTAAAGTGCTGGGAGTACAGGTATGAGCTACTGCACCCGGCCTAGCTTAAATACCTAATA... | TTCTGTATTTATGTATTTATCTTGAGACAAGGCCTCTCTGCCAGTCAGGCTGGAGCACAGTGGTGCCATCACGGCTCACTGCAGCCTCAACTTCTCAGCCTCCCGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACATCCAACTGATATTTGTGTTTTTGGTAGATGGGGTTTTGCTATGTTGGCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCCACCCTCCTTGGTCTCCACTAAAGTGCTGGGAGTACAGGTATGAGCTACTGCACCCGGCCTAGCTTAAATACCTAATA... |
Task1_train_33788 | A mutation found on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Benign | GTCTTTCTCCAGAGCCACAAATGGGTTACAACCAATATTGATCCTCTCAACCCTGGATTGGTCTTCAGTGCCCGATTTGGCTACAGCCACAGGGGAGTTGATTTTGCTGTCAACAGCCACATCAGTTTTCCTCAAGGTGCCATATCACTAATTTTTATAGTTATGTCATGAAAGCATTTGAGAAGTGCTGCTGTATCAGTTGGGAAAATTGTTAATACAAGCCCAACCTAAGGAAAAAATAACAGACCTGTGAACAGTGTATTGATTGGTATTAGTTTCTAACTCCTGTTCATGTGTCACAATACTTTGTCTAGTGTTGA... | GTCTTTCTCCAGAGCCACAAATGGGTTACAACCAATATTGATCCTCTCAACCCTGGATTGGTCTTCAGTGCCCGATTTGGCTACAGCCACAGGGGAGTTGATTTTGCTGTCAACAGCCACATCAGTTTTCCTCAAGGTGCCATATCACTAATTTTTATAGTTATGTCATGAAAGCATTTGAGAAGTGCTGCTGTATCAGTTGGGAAAATTGTTAATACAAGCCCAACCTAAGGAAAAAATAACAGACCTGTGAACAGTGTATTGATTGGTATTAGTTTCTAACTCCTGTTCATGTGTCACAATACTTTGTCTAGTGTTGA... |
Task1_train_33789 | A mutation on Chromosome 1 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Benign | TCAAGAACCCTGAGTAGTCACTCAGGAACACTCACACCTGCTCTGGTGGGACAGGTGTCATTTGAGCCTTATCAGGTATAGCTGGTCCTGAGTCCACCTCCATAAATTTCAGGTCTAGAAGCTGAAGAAAGCTAGCACATTTTCCCCATCCTGGGCCATTGGCTTCTCTGACATCAGGGTCATAAGACTGAGGGTGAAAGTACTTGCTTATCTAGGACTGTATTTAAGTAAAAATATTAATCCATGGCAAATTATCTTATAGTTTCAGATGTTCATCTTATGAGAGAAAAACAGTGATAGCTTAATAACAAAGGTTTTAT... | TCAAGAACCCTGAGTAGTCACTCAGGAACACTCACACCTGCTCTGGTGGGACAGGTGTCATTTGAGCCTTATCAGGTATAGCTGGTCCTGAGTCCACCTCCATAAATTTCAGGTCTAGAAGCTGAAGAAAGCTAGCACATTTTCCCCATCCTGGGCCATTGGCTTCTCTGACATCAGGGTCATAAGACTGAGGGTGAAAGTACTTGCTTATCTAGGACTGTATTTAAGTAAAAATATTAATCCATGGCAAATTATCTTATAGTTTCAGATGTTCATCTTATGAGAGAAAAACAGTGATAGCTTAATAACAAAGGTTTTAT... |
Task1_train_33790 | The following genetic variant occurs on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Benign | ATTTTCCCCATCCTGGGCCATTGGCTTCTCTGACATCAGGGTCATAAGACTGAGGGTGAAAGTACTTGCTTATCTAGGACTGTATTTAAGTAAAAATATTAATCCATGGCAAATTATCTTATAGTTTCAGATGTTCATCTTATGAGAGAAAAACAGTGATAGCTTAATAACAAAGGTTTTATTATGCAATAAAACATTTACATTCATTTAGAATTATAAACAATATTTAATGTTTTAAATGTACTTTCAAGAACAGGAAAAAACACATATTAAGCATTCAAGTAAAATTTTATATAAAATAGTTGCAAATAGATAGGTCT... | ATTTTCCCCATCCTGGGCCATTGGCTTCTCTGACATCAGGGTCATAAGACTGAGGGTGAAAGTACTTGCTTATCTAGGACTGTATTTAAGTAAAAATATTAATCCATGGCAAATTATCTTATAGTTTCAGATGTTCATCTTATGAGAGAAAAACAGTGATAGCTTAATAACAAAGGTTTTATTATGCAATAAAACATTTACATTCATTTAGAATTATAAACAATATTTAATGTTTTAAATGTACTTTCAAGAACAGGAAAAAACACATATTAAGCATTCAAGTAAAATTTTATATAAAATAGTTGCAAATAGATAGGTCT... |
Task1_train_33791 | This alteration on Chromosome 1 may affect genome function. Does it lead to a disease or is it benign? | Benign | AAAACACATATTAAGCATTCAAGTAAAATTTTATATAAAATAGTTGCAAATAGATAGGTCTAAGCAAAGAATTCTTTCTCCTGTGTTGTAGCACTTTGAGTAACTTTTTTCCTTGTTTTATAAAATTAAAGCAGGACAGTTTTTAAGAAAGACATTTAAAGCAATAAACATCTATTACATTGATAACTACAAAAGCATAGTTAAAAATGAGAAAAAATAATTTTACAAATTTTTATTTGGCAGCATATCGAAGAATTATATTTACAGAATTTTATGTTTTATTGTATTTTCCCAATTGTTTGCAATCTCTCTGGAAAGTA... | AAAACACATATTAAGCATTCAAGTAAAATTTTATATAAAATAGTTGCAAATAGATAGGTCTAAGCAAAGAATTCTTTCTCCTGTGTTGTAGCACTTTGAGTAACTTTTTTCCTTGTTTTATAAAATTAAAGCAGGACAGTTTTTAAGAAAGACATTTAAAGCAATAAACATCTATTACATTGATAACTACAAAAGCATAGTTAAAAATGAGAAAAAATAATTTTACAAATTTTTATTTGGCAGCATATCGAAGAATTATATTTACAGAATTTTATGTTTTATTGTATTTTCCCAATTGTTTGCAATCTCTCTGGAAAGTA... |
Task1_train_33792 | Here’s a variant located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Benign | TAAGAAAGACATTTAAAGCAATAAACATCTATTACATTGATAACTACAAAAGCATAGTTAAAAATGAGAAAAAATAATTTTACAAATTTTTATTTGGCAGCATATCGAAGAATTATATTTACAGAATTTTATGTTTTATTGTATTTTCCCAATTGTTTGCAATCTCTCTGGAAAGTAAAAGTGAGATTTGGGATGTAAAGTCCAGTGCCTAATGGAGAGGTCAGCCTCACACACAACTGCGATGGGCTAATGACAGTTCACACATCAAGACTCTTATCCTGAACCAACTAAGAATATCAGTGTTTCCACGAATCCTCTTC... | TAAGAAAGACATTTAAAGCAATAAACATCTATTACATTGATAACTACAAAAGCATAGTTAAAAATGAGAAAAAATAATTTTACAAATTTTTATTTGGCAGCATATCGAAGAATTATATTTACAGAATTTTATGTTTTATTGTATTTTCCCAATTGTTTGCAATCTCTCTGGAAAGTAAAAGTGAGATTTGGGATGTAAAGTCCAGTGCCTAATGGAGAGGTCAGCCTCACACACAACTGCGATGGGCTAATGACAGTTCACACATCAAGACTCTTATCCTGAACCAACTAAGAATATCAGTGTTTCCACGAATCCTCTTC... |
Task1_train_33793 | A sequence alteration has been identified on Chromosome 1. Is it disease-inducing or harmless? | Benign | AGCACATAAATGCTATCCCTTGCTACCAGGCAAATGTGAAATGTTATTTATAAGACAGGTAGAACCTATGTTTTATGACAAATTTTAAAGATAATGTGAAATGTTATTTTTTATAGGACAGGTAGAACCTATGTTTAATGAAAAAATTTGAAGATAATCTTTTGTCCAAATGCTATAAATGATACAGTCACTTTGAAGCATTTCATTGTATCATTAAAACAAGTAATTGAAAAGAATTGCACTCTTGGCAAAGCGCGGTGGCGAACTCCTGTAATCCCAGCACTTTCGGAGGTTGAGGTAGGTGGATCACCTGAGGTGAG... | AGCACATAAATGCTATCCCTTGCTACCAGGCAAATGTGAAATGTTATTTATAAGACAGGTAGAACCTATGTTTTATGACAAATTTTAAAGATAATGTGAAATGTTATTTTTTATAGGACAGGTAGAACCTATGTTTAATGAAAAAATTTGAAGATAATCTTTTGTCCAAATGCTATAAATGATACAGTCACTTTGAAGCATTTCATTGTATCATTAAAACAAGTAATTGAAAAGAATTGCACTCTTGGCAAAGCGCGGTGGCGAACTCCTGTAATCCCAGCACTTTCGGAGGTTGAGGTAGGTGGATCACCTGAGGTGAG... |
Task1_train_33794 | Chromosome 1 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Benign | AAAAAACAGTATAAAGAGGTTCGGGGCTGGGTGCTGTGGCTCACACCTGTAATCCCAGCACCTTCGGAGACCGAGGCGGGCGGATCACTTGAGTTCAGGTGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTGTACTACAAATACAAAAAGTAGCCAGGTGTGGTGGCACATGTGTATAATCCCAGCTACCCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGACGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAACCAAAAAG... | AAAAAACAGTATAAAGAGGTTCGGGGCTGGGTGCTGTGGCTCACACCTGTAATCCCAGCACCTTCGGAGACCGAGGCGGGCGGATCACTTGAGTTCAGGTGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTGTACTACAAATACAAAAAGTAGCCAGGTGTGGTGGCACATGTGTATAATCCCAGCTACCCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGACGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAACCAAAAAG... |
Task1_train_33795 | A mutation on Chromosome 1 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Benign | CCAGGGTGACGGGACCCACAAAGGAAGGTAAAAGGTCCCACAGAGGAAGGTGGAGTTCCACCACTCACCACTGTGCAGCTTCATGTGCTCCTTCAGGTGTTTCTTAAAGTTGAAAGACTTCCCACAGGCTGGCTCTGGGCAGGAGAAAGACTTCTGGTGGATGTGCTGGTACTTTTTGTGGTGCTAGAGAAGGAAGTGGGTGGTAGGGAGAGAAGAGGCAAAAGGATAGCCACCTTCCACGGAGAGATGAACTGAGCTGACCCGGCAGGCATGCTCCTCTGTCCCCTTCCTGGCCCCTGTGCCCCAGCAGTTCTCCCTGT... | CCAGGGTGACGGGACCCACAAAGGAAGGTAAAAGGTCCCACAGAGGAAGGTGGAGTTCCACCACTCACCACTGTGCAGCTTCATGTGCTCCTTCAGGTGTTTCTTAAAGTTGAAAGACTTCCCACAGGCTGGCTCTGGGCAGGAGAAAGACTTCTGGTGGATGTGCTGGTACTTTTTGTGGTGCTAGAGAAGGAAGTGGGTGGTAGGGAGAGAAGAGGCAAAAGGATAGCCACCTTCCACGGAGAGATGAACTGAGCTGACCCGGCAGGCATGCTCCTCTGTCCCCTTCCTGGCCCCTGTGCCCCAGCAGTTCTCCCTGT... |
Task1_train_33796 | The following genetic variant occurs on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Benign | CTCCCTTTTCTCCATAACTCTGCTTTTTTCCAGCCTACCTGCAAGCTCCTGCCCACTCGTGGCCTCGGAACACCAACTTCTCCGAGTAGTATGTGGAAGGGAGGCTGGCTTGGGTGCCTCTGAAGGTGTAGGGCTCAAAGAGGGTCCCCAGGAGAAGGTATGGCCTGCTGAGCACTCCCACACAAGCCCCCCATCTTGGCCGCCAGGCCCCCGAAGCCCGGGCACCAGGCTGCACTCTCGGCTGTGGGCATGAGACAAGAGCACCAGATACTGCAGACCTTTTGGAGGCAAAGGCTCAGGACCTGGAGGGGTGGGGGAAG... | CTCCCTTTTCTCCATAACTCTGCTTTTTTCCAGCCTACCTGCAAGCTCCTGCCCACTCGTGGCCTCGGAACACCAACTTCTCCGAGTAGTATGTGGAAGGGAGGCTGGCTTGGGTGCCTCTGAAGGTGTAGGGCTCAAAGAGGGTCCCCAGGAGAAGGTATGGCCTGCTGAGCACTCCCACACAAGCCCCCCATCTTGGCCGCCAGGCCCCCGAAGCCCGGGCACCAGGCTGCACTCTCGGCTGTGGGCATGAGACAAGAGCACCAGATACTGCAGACCTTTTGGAGGCAAAGGCTCAGGACCTGGAGGGGTGGGGGAAG... |
Task1_train_33797 | A mutation has occurred on Chromosome 2. What is the medical relevance of this mutation? | Benign | GTCTGTGTTTTAAACAACTTTCTGTCTTCAGGTTAGGGCACAGTGCTTGGCACATAGAGTTGGCATACAAAATATGTTTGTTGAATAAGTCATATTACCCTTTTCCATAGGACTTTCTATTTCTCCTCATAGTGGCTACGCAAAGTTCAAATGTTGGCCCAGTGTTTTAGGGCTCCTGTATACCAGCCCGTCAGTTTCCAGACACTGGCTCTCTGTACCTGAAGCATCGCAGCCTCACCTGCTTAGTGCCACAATCCCTCTGAGTTAAATGCCTTTCCCTTCCTCTGTCCATTAAGATCCTGATCATCCTTTTAATATCA... | GTCTGTGTTTTAAACAACTTTCTGTCTTCAGGTTAGGGCACAGTGCTTGGCACATAGAGTTGGCATACAAAATATGTTTGTTGAATAAGTCATATTACCCTTTTCCATAGGACTTTCTATTTCTCCTCATAGTGGCTACGCAAAGTTCAAATGTTGGCCCAGTGTTTTAGGGCTCCTGTATACCAGCCCGTCAGTTTCCAGACACTGGCTCTCTGTACCTGAAGCATCGCAGCCTCACCTGCTTAGTGCCACAATCCCTCTGAGTTAAATGCCTTTCCCTTCCTCTGTCCATTAAGATCCTGATCATCCTTTTAATATCA... |
Task1_train_33798 | This sequence variant lies on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Benign | GCAGTACAATTTTGAGAAATAGGTTAACTCTATTTTAACTTAAAAGTACCCTAAAAATTATTTAATTGTTTATTAGTGAGTAACAGGCTCAAATACAGCAGTTTTTTTTTTCTTTTAGTATTGCTTTGCATCCTCTAGGCTTGAATGGTATAAACACTGTGTTTTGACTTCTTATTCAATTTTAGATTACCAAAGAAGATTTTGCCACATTTGATTATATACTATGTATGGATGAAAGCAATCTGAGGTAATCCTGTTTTTGAAGAATATTTCTGTTCAACTCTCAGTTCAGCAGTGGGCCAAGTAATTTGTTGTCCAGA... | GCAGTACAATTTTGAGAAATAGGTTAACTCTATTTTAACTTAAAAGTACCCTAAAAATTATTTAATTGTTTATTAGTGAGTAACAGGCTCAAATACAGCAGTTTTTTTTTTCTTTTAGTATTGCTTTGCATCCTCTAGGCTTGAATGGTATAAACACTGTGTTTTGACTTCTTATTCAATTTTAGATTACCAAAGAAGATTTTGCCACATTTGATTATATACTATGTATGGATGAAAGCAATCTGAGGTAATCCTGTTTTTGAAGAATATTTCTGTTCAACTCTCAGTTCAGCAGTGGGCCAAGTAATTTGTTGTCCAGA... |
Task1_train_33799 | This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not? | Benign | TGTGTCACCGTGCTTGGAAAAACCCAGTGCGTTTGGGAGTTGTGAGACTCTTCCCCTCACTTTTTTGTTCCTAAAAATCACGACAGCAAGTGCAGCATTGAGGAACATGACGGATCTGAAATGAATCTGGTGTGAATCCAACGCAGTCATTTTCATGTTGTGCTCACCTCTGATTCCACAGGGCCTGATTATTCACTAGTTTTAAAACCCTTTTCATTATTTAGAAATGACAGAGTGGATTAAAGAAAAAACTGTGAGAGGGACAATTATAGGAACAGCATGAAAGTTTTAATGAACAGTTTCCAAATCAGCACCTGGAA... | TGTGTCACCGTGCTTGGAAAAACCCAGTGCGTTTGGGAGTTGTGAGACTCTTCCCCTCACTTTTTTGTTCCTAAAAATCACGACAGCAAGTGCAGCATTGAGGAACATGACGGATCTGAAATGAATCTGGTGTGAATCCAACGCAGTCATTTTCATGTTGTGCTCACCTCTGATTCCACAGGGCCTGATTATTCACTAGTTTTAAAACCCTTTTCATTATTTAGAAATGACAGAGTGGATTAAAGAAAAAACTGTGAGAGGGACAATTATAGGAACAGCATGAAAGTTTTAATGAACAGTTTCCAAATCAGCACCTGGAA... |
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