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_48200 | 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 | TATGCAATACTGAGATTTGGGCTTCTATTGAACCCATCACCCAAACAATGAACACAGTACCCAATAATTCGTTTTTCAACTCTTGCTCCCCTCCCTCCCAGCTTTTGGAGTCCCCAGTGTCTACTGTTTCCACCTTTATGAGGTACTCAAGATATTGATCCAAACAACTACCCCGAGTCCTCAACCCATATGCCTCCACTAACAATGATGAAAATTACAACAGCTAACAAAGTTGCCCTTACTGGCTGCTTCCTAAGAACCAGGCACTATGCTTCACATATTATTTCATTCTACTTTCTCAAAAAACCTTATTACCCCCA... | TATGCAATACTGAGATTTGGGCTTCTATTGAACCCATCACCCAAACAATGAACACAGTACCCAATAATTCGTTTTTCAACTCTTGCTCCCCTCCCTCCCAGCTTTTGGAGTCCCCAGTGTCTACTGTTTCCACCTTTATGAGGTACTCAAGATATTGATCCAAACAACTACCCCGAGTCCTCAACCCATATGCCTCCACTAACAATGATGAAAATTACAACAGCTAACAAAGTTGCCCTTACTGGCTGCTTCCTAAGAACCAGGCACTATGCTTCACATATTATTTCATTCTACTTTCTCAAAAAACCTTATTACCCCCA... |
Task1_train_48201 | A mutation on Chromosome 21 is under examination. Does this mutation cause a disorder, or is it a benign change? | Benign | ATGCAATACTGAGATTTGGGCTTCTATTGAACCCATCACCCAAACAATGAACACAGTACCCAATAATTCGTTTTTCAACTCTTGCTCCCCTCCCTCCCAGCTTTTGGAGTCCCCAGTGTCTACTGTTTCCACCTTTATGAGGTACTCAAGATATTGATCCAAACAACTACCCCGAGTCCTCAACCCATATGCCTCCACTAACAATGATGAAAATTACAACAGCTAACAAAGTTGCCCTTACTGGCTGCTTCCTAAGAACCAGGCACTATGCTTCACATATTATTTCATTCTACTTTCTCAAAAAACCTTATTACCCCCAT... | ATGCAATACTGAGATTTGGGCTTCTATTGAACCCATCACCCAAACAATGAACACAGTACCCAATAATTCGTTTTTCAACTCTTGCTCCCCTCCCTCCCAGCTTTTGGAGTCCCCAGTGTCTACTGTTTCCACCTTTATGAGGTACTCAAGATATTGATCCAAACAACTACCCCGAGTCCTCAACCCATATGCCTCCACTAACAATGATGAAAATTACAACAGCTAACAAAGTTGCCCTTACTGGCTGCTTCCTAAGAACCAGGCACTATGCTTCACATATTATTTCATTCTACTTTCTCAAAAAACCTTATTACCCCCAT... |
Task1_train_48202 | A mutation on Chromosome 21 is under examination. Does this mutation cause a disorder, or is it a benign change? | Benign | CATCCTCTATTACAGATTTCCTCTAACACAGAATCAACAGGACTCTAATATTTCATACGTGGCTGTCACTGTGCTTTGAGGTTAATCTATATGGTCGTTTAAGCCCCGCCCCCCTAGAGGTTATTCCTTATCCCCACTTTACAGATGCGCAAACTGAGACACAGGAAGATAGAATAGCTCGGCCGGGATCACCCAGCTTGTGAGTGACACCGAGCAGGTACTGGAACCCGGGTTTGTTTGACCTCAGCGCACAGGCTCTAAACCTCTGCTCCAACTCAAAGTATGCGCCAAGTCAGCGTGCATGGGTAACCCGATCCGGA... | CATCCTCTATTACAGATTTCCTCTAACACAGAATCAACAGGACTCTAATATTTCATACGTGGCTGTCACTGTGCTTTGAGGTTAATCTATATGGTCGTTTAAGCCCCGCCCCCCTAGAGGTTATTCCTTATCCCCACTTTACAGATGCGCAAACTGAGACACAGGAAGATAGAATAGCTCGGCCGGGATCACCCAGCTTGTGAGTGACACCGAGCAGGTACTGGAACCCGGGTTTGTTTGACCTCAGCGCACAGGCTCTAAACCTCTGCTCCAACTCAAAGTATGCGCCAAGTCAGCGTGCATGGGTAACCCGATCCGGA... |
Task1_train_48203 | A variant was discovered on Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful. | Benign | CACTCAGGTGTAGCGGGCAGTTAGTCCCTGAGCGGGACTTGAACCTGCCTCCTGTCCTTCTATCTCCCATGCTGCTCCCGGAGAGAAGCCACTGTACCCACTTTGCCCAAAGCAACCTGCTTTCCCTGGGGCAGAGCATGCAGTGGATCGGGGAGGGGCAGCAGTGTCCATGTGGCAGCTGGAACACTGGAGACCTTGGCCATTAATGAAGTTTTACTTCTTTCTGCTGATGCATCTCAGGTGCCTGCGCCGGCCTTTCATTTCGGTGCCTGTGTGTTTATTTCTGCAAGGCAGGGAGGCTTCCCAGTGCCCTCAGCCAC... | CACTCAGGTGTAGCGGGCAGTTAGTCCCTGAGCGGGACTTGAACCTGCCTCCTGTCCTTCTATCTCCCATGCTGCTCCCGGAGAGAAGCCACTGTACCCACTTTGCCCAAAGCAACCTGCTTTCCCTGGGGCAGAGCATGCAGTGGATCGGGGAGGGGCAGCAGTGTCCATGTGGCAGCTGGAACACTGGAGACCTTGGCCATTAATGAAGTTTTACTTCTTTCTGCTGATGCATCTCAGGTGCCTGCGCCGGCCTTTCATTTCGGTGCCTGTGTGTTTATTTCTGCAAGGCAGGGAGGCTTCCCAGTGCCCTCAGCCAC... |
Task1_train_48204 | A variant affecting Chromosome 21 has been observed. Determine if it's benign or associated with disease. | Benign | GAATCTGAATTTTCCAAGGGGCCAGTGTAGAGTGACACAGGTGTCCGAGGCCACCTTTCCATCTTCAGACACCCCCCCGTCTCTCTGCACAGGGAGTTGGCCTTCCAGTAGGTGTTGCTCTTCTGTCTTGACGTCTCCTGGAAAGATTTTTATCTCTATTTTCCTGTGGTGGTGTTTTCCACGAGCTAATTCTTTCTATCTTTAAACTCATTGGCTGAAAACAAATGTGGGAATATTTTTGCATTAGTAACAATTATATTATTTTTAAATGTTAAGCAACACATCATACCAGCTATCACAGAATGTAGATGATTCTACTC... | GAATCTGAATTTTCCAAGGGGCCAGTGTAGAGTGACACAGGTGTCCGAGGCCACCTTTCCATCTTCAGACACCCCCCCGTCTCTCTGCACAGGGAGTTGGCCTTCCAGTAGGTGTTGCTCTTCTGTCTTGACGTCTCCTGGAAAGATTTTTATCTCTATTTTCCTGTGGTGGTGTTTTCCACGAGCTAATTCTTTCTATCTTTAAACTCATTGGCTGAAAACAAATGTGGGAATATTTTTGCATTAGTAACAATTATATTATTTTTAAATGTTAAGCAACACATCATACCAGCTATCACAGAATGTAGATGATTCTACTC... |
Task1_train_48205 | Here is a genetic alteration on Chromosome 21. Based on the data, is it a benign variant or a cause of disease? | Benign | CGCGTGTGGGGACGCTGCAGATTTCTTCCTGGCTTTCCACCGCTGCAGCTGCAGAGCTCTCAGCTTTTCTCGGAGCTCCATGTTCTGCTCCCTCAAAGCATCTATATGACTCCGGAGTTTTCCATGAACATCAGCCCACAGAGACTTCTGTCTCCCAAGCTCTTGGTGGAGTCTGATGATCTGCTGCTGTAATGGCTGTTATTGGGAAGAGAACACCAGAAAAACCTCTCAGATGTCACAATGGGCACATTTATCTGCAAAATACTCAAGCCCTCTCTGATGTAAGACCAACACTATTTCTGGAATAAAAGACACCCGAT... | CGCGTGTGGGGACGCTGCAGATTTCTTCCTGGCTTTCCACCGCTGCAGCTGCAGAGCTCTCAGCTTTTCTCGGAGCTCCATGTTCTGCTCCCTCAAAGCATCTATATGACTCCGGAGTTTTCCATGAACATCAGCCCACAGAGACTTCTGTCTCCCAAGCTCTTGGTGGAGTCTGATGATCTGCTGCTGTAATGGCTGTTATTGGGAAGAGAACACCAGAAAAACCTCTCAGATGTCACAATGGGCACATTTATCTGCAAAATACTCAAGCCCTCTCTGATGTAAGACCAACACTATTTCTGGAATAAAAGACACCCGAT... |
Task1_train_48206 | A mutation has occurred on Chromosome 21. What is the medical relevance of this mutation? | Benign | AGGAAAAAGAAATAAAGAAAGAAAGAAAGAGAAAGAAGAAAGAAAGAAAGAAAGAGAGAGGTAGGGAGGGAGAGAGGGAGGAAGGAAGGAGAAAGAGAAAGAAAAAGAAAGAAAGAGGAAAGAAAGAGAGAGAGAGAAAGAAGGAAAGAAGGAAGGAAAGAAGGGAGGGAGGGAGGGAGGGGAGAGGTTTGAAGAGGCTCACTCTGCCTGAAGACAGGAAGGGACCAGGAGCCGAGGCGCTCTCAGCCCCAGAAAGGGCAAGGAAGCAGAGCCCACCTCCAGCCTCCAGAACGAATGAGCCTGCCAAGGCCTGGGCTGTA... | AGGAAAAAGAAATAAAGAAAGAAAGAAAGAGAAAGAAGAAAGAAAGAAAGAAAGAGAGAGGTAGGGAGGGAGAGAGGGAGGAAGGAAGGAGAAAGAGAAAGAAAAAGAAAGAAAGAGGAAAGAAAGAGAGAGAGAGAAAGAAGGAAAGAAGGAAGGAAAGAAGGGAGGGAGGGAGGGAGGGGAGAGGTTTGAAGAGGCTCACTCTGCCTGAAGACAGGAAGGGACCAGGAGCCGAGGCGCTCTCAGCCCCAGAAAGGGCAAGGAAGCAGAGCCCACCTCCAGCCTCCAGAACGAATGAGCCTGCCAAGGCCTGGGCTGTA... |
Task1_train_48207 | A change on Chromosome 21 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Benign | CCCTCAATGTTGTGAGCTACAGGTTCTATATTCTCCCTTCTGCAGGCCCAGAGTGGTCACAGCCCTCAATGTTGTGAGCTACAGGTTCTATATTCTCCCTTCTGCAGGCCCAGAGTGGTCACAGCCCTCAATGTTGTGAGCTACAGGTTCTGGAGTCTCCCTTCTGGGCCCCAGAGTGGTCACAGGCCTCAATGTTGTGAGCTGCAGATTCTATACTCTCCCTTCTGGTTTGCCTACAGCCCTCTCACACATTTGTAAATATAGTCCTGCAACCCCTAATGATGTCTTGGGCAAAGATGGACCTTTTATATGACGATAGC... | CCCTCAATGTTGTGAGCTACAGGTTCTATATTCTCCCTTCTGCAGGCCCAGAGTGGTCACAGCCCTCAATGTTGTGAGCTACAGGTTCTATATTCTCCCTTCTGCAGGCCCAGAGTGGTCACAGCCCTCAATGTTGTGAGCTACAGGTTCTGGAGTCTCCCTTCTGGGCCCCAGAGTGGTCACAGGCCTCAATGTTGTGAGCTGCAGATTCTATACTCTCCCTTCTGGTTTGCCTACAGCCCTCTCACACATTTGTAAATATAGTCCTGCAACCCCTAATGATGTCTTGGGCAAAGATGGACCTTTTATATGACGATAGC... |
Task1_train_48208 | Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Benign | TGTACATTTATTTCCATCTGCAATTGTTTATTGCATTTTTTGAAATAAAGTCATTTAATTTTTCATCAACAGAATCAGCAGAATCTGCCAAAATAGGAGGAATAATTACTGTGTTTTTGATAGCATTGGTCTTGACAAGCACCATAGTGACACTGAAATGGATTGGTTATATATGCTTAAGAAATAGCCTCCCCAAAGTCTTGGTAGGTAGTTTTTTTGTTTTGTTTTGTTTTTTCTATCTTTGTTTTTTATTTTAACTTAAGAATTTGTATTTATATAAATATTTTCACAGAAGAAAATCTCATTTTCTATAAACACCA... | TGTACATTTATTTCCATCTGCAATTGTTTATTGCATTTTTTGAAATAAAGTCATTTAATTTTTCATCAACAGAATCAGCAGAATCTGCCAAAATAGGAGGAATAATTACTGTGTTTTTGATAGCATTGGTCTTGACAAGCACCATAGTGACACTGAAATGGATTGGTTATATATGCTTAAGAAATAGCCTCCCCAAAGTCTTGGTAGGTAGTTTTTTTGTTTTGTTTTGTTTTTTCTATCTTTGTTTTTTATTTTAACTTAAGAATTTGTATTTATATAAATATTTTCACAGAAGAAAATCTCATTTTCTATAAACACCA... |
Task1_train_48209 | Assess the clinical impact of this variant found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable. | Benign | GAGGAAGCCGCGGAACCCCCAGCGTCCGTCCATGGCGTGGAGCCTTGGGAGCTGGCTGGGTGGCTGCCTGCTGGTGTCAGGTGAGGGGTCCGCGGGGAGGGGGCGCGCTTGGGAACCGGGAGGCCCCGCGAGATGCCGCCCCTGATCCCATCCCTGGGCGCCCTGCAAGTGACTTAAGAGCCTTCGGGGCCTCGGGAGAGAAGATGCAAACGCCACGGCCGGCTGCTGAGACGCAACTAGGCTGCTGCTGCCGTCGATTCTGTAACAGGAGAAAGCCCCATCCGCGCCCGGATTACAGACCGTCTGGGCCCTAAACTCAG... | GAGGAAGCCGCGGAACCCCCAGCGTCCGTCCATGGCGTGGAGCCTTGGGAGCTGGCTGGGTGGCTGCCTGCTGGTGTCAGGTGAGGGGTCCGCGGGGAGGGGGCGCGCTTGGGAACCGGGAGGCCCCGCGAGATGCCGCCCCTGATCCCATCCCTGGGCGCCCTGCAAGTGACTTAAGAGCCTTCGGGGCCTCGGGAGAGAAGATGCAAACGCCACGGCCGGCTGCTGAGACGCAACTAGGCTGCTGCTGCCGTCGATTCTGTAACAGGAGAAAGCCCCATCCGCGCCCGGATTACAGACCGTCTGGGCCCTAAACTCAG... |
Task1_train_48210 | This mutation occurs on Chromosome 21. Does this change lead to a known medical condition, or is it benign? | Benign | AGCACCCAGGGAAGCAATATGAGAAAAGAATATAAGAACAGAGACTGTGACAAAGCAAATTTAGATCCACAACATTGACATTTTTATAAAAAGGTTTTTGGAGGTTTATACTGAAAAGTTTTGTAACAATTATATTCATGTGTATCAGATTTGTAAGGTGTTCAAACCATTTTAACATATCCATTTGGCTTATAATTTTCATTACATTTTTAGTTTGAAAGAGTTTAATTGATTAAATTTTTAATCATTGTTTAAATACTCGAGGAACCCTAGTTTGTAAAATTCTAGTTTTTGATATAATAGTTATCTGAGCAGAATGT... | AGCACCCAGGGAAGCAATATGAGAAAAGAATATAAGAACAGAGACTGTGACAAAGCAAATTTAGATCCACAACATTGACATTTTTATAAAAAGGTTTTTGGAGGTTTATACTGAAAAGTTTTGTAACAATTATATTCATGTGTATCAGATTTGTAAGGTGTTCAAACCATTTTAACATATCCATTTGGCTTATAATTTTCATTACATTTTTAGTTTGAAAGAGTTTAATTGATTAAATTTTTAATCATTGTTTAAATACTCGAGGAACCCTAGTTTGTAAAATTCTAGTTTTTGATATAATAGTTATCTGAGCAGAATGT... |
Task1_train_48211 | This mutation is located on Chromosome 21. Is it associated with a disease or is it a benign polymorphism? | Benign | CTGTAGTAGTGGTTCTCAAAGAGTGATCCTCAAGGCCCTTTCAGGGGGCTGTAAAGACAAAGCTATATTTATGACAAATCTAAGACTTAGTTGCCTTTTTAATTTTTGTTCTTTCTTGTATTCACAGTGGAGTTTTCCAGAGGAGGCTGTTTGATGTGTGATGTGGTGATATGGTCACTGATTTAACATAGAATTCAATGTGAAATTCATCTGCCTTCTTTATTAATCCAAACATTCAAAAGATTTGGAAAAAAAATGTAAAACAGCACCACTCTGAAGTTTCTATGTTCCTTTTGGCAAATGTTTGTTACCATAAAATA... | CTGTAGTAGTGGTTCTCAAAGAGTGATCCTCAAGGCCCTTTCAGGGGGCTGTAAAGACAAAGCTATATTTATGACAAATCTAAGACTTAGTTGCCTTTTTAATTTTTGTTCTTTCTTGTATTCACAGTGGAGTTTTCCAGAGGAGGCTGTTTGATGTGTGATGTGGTGATATGGTCACTGATTTAACATAGAATTCAATGTGAAATTCATCTGCCTTCTTTATTAATCCAAACATTCAAAAGATTTGGAAAAAAAATGTAAAACAGCACCACTCTGAAGTTTCTATGTTCCTTTTGGCAAATGTTTGTTACCATAAAATA... |
Task1_train_48212 | This genomic variant is located on Chromosome 21. Can you determine its pathogenicity and name any linked disease? | Benign | GCTCCAGGTTTGGAAGAAGCCTGTGTAGGATCTGTGTTTCATTTCTGGCTTTGATGTCTGGGCGTCAGTTTCCCTGGGGTTAATTATTAGCTTAATGTGAAGGCAGCATTGTGGAAATTTCTCTGCATAGTTCGGATGCTATTCAGATCTGTCTGTGTGACTGTCATGCAGGCCTCTCTGTGTGACTGTGAGGGAGCATTGACCTGCCACCACCCCCCTCTGGAAGCATCCAGTCCCCAACTGGCTTTGGGCATTGCTAGGTCATAGCAGCCACAGCACACCTGGTGGGCCTGCCTCTTGCCACGCAGCTTTACCTGTCT... | GCTCCAGGTTTGGAAGAAGCCTGTGTAGGATCTGTGTTTCATTTCTGGCTTTGATGTCTGGGCGTCAGTTTCCCTGGGGTTAATTATTAGCTTAATGTGAAGGCAGCATTGTGGAAATTTCTCTGCATAGTTCGGATGCTATTCAGATCTGTCTGTGTGACTGTCATGCAGGCCTCTCTGTGTGACTGTGAGGGAGCATTGACCTGCCACCACCCCCCTCTGGAAGCATCCAGTCCCCAACTGGCTTTGGGCATTGCTAGGTCATAGCAGCCACAGCACACCTGGTGGGCCTGCCTCTTGCCACGCAGCTTTACCTGTCT... |
Task1_train_48213 | A mutation found on Chromosome 21 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Benign | GAATCACTATGATCTTGGCCATCAAATAAAAAAAAATCACATATGCATTTAAGAACATACTGAATATTTGCAAGAATGTTCATAGCAGTGTTACTTACAATAGAGGGAAAAAAATCAGGCTACATCCATCTGAGAGAATACAATACTCTTATTACTTTACCCCTCTATCCATAAAGGTTAAACATAAACTTCTTCTAATTAATAAGATAACAATAAAAATTCCTCAACTGTTTTCAGACTTTTCAACAACAAAGCTATGATACAAAATGAGCTGTAGCTTCTATCTTTTCTGGTTTCTCTTTAACCAGCTTTCTGACATC... | GAATCACTATGATCTTGGCCATCAAATAAAAAAAAATCACATATGCATTTAAGAACATACTGAATATTTGCAAGAATGTTCATAGCAGTGTTACTTACAATAGAGGGAAAAAAATCAGGCTACATCCATCTGAGAGAATACAATACTCTTATTACTTTACCCCTCTATCCATAAAGGTTAAACATAAACTTCTTCTAATTAATAAGATAACAATAAAAATTCCTCAACTGTTTTCAGACTTTTCAACAACAAAGCTATGATACAAAATGAGCTGTAGCTTCTATCTTTTCTGGTTTCTCTTTAACCAGCTTTCTGACATC... |
Task1_train_48214 | A mutation found on Chromosome 21 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Benign | CTGTCCCAGTTAAATAACTCCCCATTCCCCACTACCCCAGACCCTGGCAACCATCTGTTTAAAAGTAGATATACTGACATTTTGCTGCAACTTTTCTCAGTTCAATTTTGGTATGAACAAGAGAGGAATGCCTAATCAAGTCAAAAAAGTGAAAATTAGATTTGTAAAAACCGTACACAAGTATCCCTAAATAATTAAACTGAGTTCTTAATTTCAGTAATATATAACTGTATCTGTTTCCTAATAGCTGAGGACAGTAAACACTATGACAAAAGCAAAACCAGGTAAAGATACTCAGTGCATCATTTCCTTCTGTATAG... | CTGTCCCAGTTAAATAACTCCCCATTCCCCACTACCCCAGACCCTGGCAACCATCTGTTTAAAAGTAGATATACTGACATTTTGCTGCAACTTTTCTCAGTTCAATTTTGGTATGAACAAGAGAGGAATGCCTAATCAAGTCAAAAAAGTGAAAATTAGATTTGTAAAAACCGTACACAAGTATCCCTAAATAATTAAACTGAGTTCTTAATTTCAGTAATATATAACTGTATCTGTTTCCTAATAGCTGAGGACAGTAAACACTATGACAAAAGCAAAACCAGGTAAAGATACTCAGTGCATCATTTCCTTCTGTATAG... |
Task1_train_48215 | Assess the clinical impact of this variant found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable. | Benign | TCCATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCACCATGGATTCTCAGATGTTAGCAACCAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCAATGGATTCCCAGATGTTAGCATCTGGCACTATGGACTCTCAAATGTTAGCTTCTGGCACCATGGATGCTCAGATGTTAGCGTCTGGTACCATGGATGCCCAGATGTTAGCGTCTAGTACCCAAGATTCTGCTATGTTGGGTTCAAAATCTCCTGATCCCTATAGGTTAGCTCAGGATCCTTACAGGTTAGCTCAGGA... | TCCATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCACCATGGATTCTCAGATGTTAGCAACCAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCAATGGATTCCCAGATGTTAGCATCTGGCACTATGGACTCTCAAATGTTAGCTTCTGGCACCATGGATGCTCAGATGTTAGCGTCTGGTACCATGGATGCCCAGATGTTAGCGTCTAGTACCCAAGATTCTGCTATGTTGGGTTCAAAATCTCCTGATCCCTATAGGTTAGCTCAGGATCCTTACAGGTTAGCTCAGGA... |
Task1_train_48216 | Consider a variant on Chromosome 21. Determine its clinical classification and disease relevance. | Benign | ATGCCCAGATGTTAGCGTCTAGTACCCAAGATTCTGCTATGTTGGGTTCAAAATCTCCTGATCCCTATAGGTTAGCTCAGGATCCTTACAGGTTAGCTCAGGATCCCTATAGGTTGGGCCATGACCCCTATAGATTAGGTCATGATGCTTACAGGTTAGGACAAGACCCTTATAGATTAGGCCATGATCCCTACAGACTAACTCCTGATCCCTATAGGATGTCACCTAGACCCTACAGGATAGCACCCAGGTCCTATAGAATAGCACCCAGGCCATATAGGTTAGCACCTAGACCCCTGATGTTAGCATCTAGACGTTCT... | ATGCCCAGATGTTAGCGTCTAGTACCCAAGATTCTGCTATGTTGGGTTCAAAATCTCCTGATCCCTATAGGTTAGCTCAGGATCCTTACAGGTTAGCTCAGGATCCCTATAGGTTGGGCCATGACCCCTATAGATTAGGTCATGATGCTTACAGGTTAGGACAAGACCCTTATAGATTAGGCCATGATCCCTACAGACTAACTCCTGATCCCTATAGGATGTCACCTAGACCCTACAGGATAGCACCCAGGTCCTATAGAATAGCACCCAGGCCATATAGGTTAGCACCTAGACCCCTGATGTTAGCATCTAGACGTTCT... |
Task1_train_48217 | Here is a variant on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder. | Benign | GTTTGGTTCCATGACATACCTCAGTATGTTTCAATTCTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAATGGCGCGATCTCAGCCCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCAGCTAATCTTTGTATTATTAGTAGAGACACAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGATCTTGTGATCCACCCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACTACAC... | GTTTGGTTCCATGACATACCTCAGTATGTTTCAATTCTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAATGGCGCGATCTCAGCCCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCAGCTAATCTTTGTATTATTAGTAGAGACACAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGATCTTGTGATCCACCCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACTACAC... |
Task1_train_48218 | An alteration has been detected on Chromosome 21. Is it pathogenic, and if so, what disease is involved? | Benign | ACATCCTGAGCGCACAGCTGCCGCACATGCAGCCCTACATCCGCTTCTGCAGCCGCCAGCTCAACGGGGCTGCCCTGATCCAGCAGAAGACGGATGAGGCCCCAGACTTCAAGGAGTTCGTCAAAGTAAGGAGCCAGGCTGTGCAGAGACTGGGCCCCAGAGTGGCGATCTTTGGGCAGCTGGATGTGTGAGGGGCTAATTCAAAAGTCTGCAAGAGTGTTCCCACTAGAGGCCAACAGGGCCTAGGGTCTTGGCTAAGCCTTAGGGGACTGGCACTCACTGGCAAGTGTGGCTGTCACCAAAGGGGTGGGCTTGGAGAG... | ACATCCTGAGCGCACAGCTGCCGCACATGCAGCCCTACATCCGCTTCTGCAGCCGCCAGCTCAACGGGGCTGCCCTGATCCAGCAGAAGACGGATGAGGCCCCAGACTTCAAGGAGTTCGTCAAAGTAAGGAGCCAGGCTGTGCAGAGACTGGGCCCCAGAGTGGCGATCTTTGGGCAGCTGGATGTGTGAGGGGCTAATTCAAAAGTCTGCAAGAGTGTTCCCACTAGAGGCCAACAGGGCCTAGGGTCTTGGCTAAGCCTTAGGGGACTGGCACTCACTGGCAAGTGTGGCTGTCACCAAAGGGGTGGGCTTGGAGAG... |
Task1_train_48219 | A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | TCTAAACCACTCTTTTCCAACACATTTTGATGTACTTTACATTTAACCCAGGCCTTATGAATAATCACTGGTTACAGAAGCACTAATAAGATACACGCTGGCTTTTCCAAAGCAAAGGGTCACAGAAGCTGATATAAAAATGAAACAAACATCCCAGGTGACAAGTTACCTTTCCCAATTTCTTGATTTTACCCTGTTTTTCCCTTTTCTTCCTGCAAAAGGTGACACATGTAATATCAAGGCAAACACAGCAGCAACAACCCGTTACTTACAGATGCAGAGGTCACTGTGCAAGGTACCTCTCCGCGATGGACACTCAT... | TCTAAACCACTCTTTTCCAACACATTTTGATGTACTTTACATTTAACCCAGGCCTTATGAATAATCACTGGTTACAGAAGCACTAATAAGATACACGCTGGCTTTTCCAAAGCAAAGGGTCACAGAAGCTGATATAAAAATGAAACAAACATCCCAGGTGACAAGTTACCTTTCCCAATTTCTTGATTTTACCCTGTTTTTCCCTTTTCTTCCTGCAAAAGGTGACACATGTAATATCAAGGCAAACACAGCAGCAACAACCCGTTACTTACAGATGCAGAGGTCACTGTGCAAGGTACCTCTCCGCGATGGACACTCAT... |
Task1_train_48220 | A genetic alteration is present on Chromosome 21. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Benign | AAAGTAGGTATTGGGTCTGTGATCCTGGGAGAACCCTAACCCAGGGAATTCCATAGCTCCCCTCTTTCACATCTTGGATTTTCTTTTCTCCACCTCCAGATTCCCAAGCTCTTAACTTGGAGGCAGAAGCACTGGTGGTGAGTTTAGAAATCTAGGAGAATCAGCAAGATACACAGACTCTTACAGTCTTAAGAGACCCGGGAGATGAAGGTGTAACCTTTTTCCAGCGCAGGGCTCCCACGATCCTCCAGACAGGCCCGGAGAAGCGGACCCTCATGGACAACAGCGCCCATCTCTGGTCAGAGAAACTCGACTGGCTC... | AAAGTAGGTATTGGGTCTGTGATCCTGGGAGAACCCTAACCCAGGGAATTCCATAGCTCCCCTCTTTCACATCTTGGATTTTCTTTTCTCCACCTCCAGATTCCCAAGCTCTTAACTTGGAGGCAGAAGCACTGGTGGTGAGTTTAGAAATCTAGGAGAATCAGCAAGATACACAGACTCTTACAGTCTTAAGAGACCCGGGAGATGAAGGTGTAACCTTTTTCCAGCGCAGGGCTCCCACGATCCTCCAGACAGGCCCGGAGAAGCGGACCCTCATGGACAACAGCGCCCATCTCTGGTCAGAGAAACTCGACTGGCTC... |
Task1_train_48221 | The following genetic variant occurs on Chromosome 21. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Benign | AAGGAGTACGGGGGCCTGGACGTGCTGGTCAACAACGCGGGCATCGCCTTCAAGGGTATGGGGAGGGGACGTGGCCTCCCCGAAGAAGAACCGATGCACTGGGGCTCCTGGCGTCTGCGGGGTCCATAACGCCTCCCTAGGGAGGAGAGGGAGGAGCTAGGAGATGCAGGGAGTGCAGAAACCTTGGAGAAAGTGAGAGTTTTCCAGCCAAAGGGAACTTTGTGTTTCCCTGGCTGGGACTCTTGGGGATCTTTTTCAGGTTTTCTGCAGTTTTTCTGAATTGAGCTTTAAGGCAACTGGATGGATTTTGAACTGATTTT... | AAGGAGTACGGGGGCCTGGACGTGCTGGTCAACAACGCGGGCATCGCCTTCAAGGGTATGGGGAGGGGACGTGGCCTCCCCGAAGAAGAACCGATGCACTGGGGCTCCTGGCGTCTGCGGGGTCCATAACGCCTCCCTAGGGAGGAGAGGGAGGAGCTAGGAGATGCAGGGAGTGCAGAAACCTTGGAGAAAGTGAGAGTTTTCCAGCCAAAGGGAACTTTGTGTTTCCCTGGCTGGGACTCTTGGGGATCTTTTTCAGGTTTTCTGCAGTTTTTCTGAATTGAGCTTTAAGGCAACTGGATGGATTTTGAACTGATTTT... |
Task1_train_48222 | Consider a variant on Chromosome 21. Determine its clinical classification and disease relevance. | Benign | GAACTAGGCCAGGCACGGTGACACAAGCCTGTAATACCAGCACTTTGAGAGGCCAAGGAGGGAGAATCGATGTAGCCCAGGAGTTCAACCAGTCTGAGCAACACAGTGAGACTCCCATCTCTAAAAACAAATAAAAATAAAATAAAATAAAAAATTATCCAGGCAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTATCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGCAGCGCC... | GAACTAGGCCAGGCACGGTGACACAAGCCTGTAATACCAGCACTTTGAGAGGCCAAGGAGGGAGAATCGATGTAGCCCAGGAGTTCAACCAGTCTGAGCAACACAGTGAGACTCCCATCTCTAAAAACAAATAAAAATAAAATAAAATAAAAAATTATCCAGGCAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTATCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGCAGCGCC... |
Task1_train_48223 | A genomic variant on Chromosome 21 is under review. What is the biological outcome — benign or pathogenic? | Benign | AAGCAGTAGAATCACTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTGCAGCCTAGGCAACAAAACAAGACTGTCTCACAAAACAAAATAAAAAATTTTTAGGCCGGGTGTAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAAGCAGTAGAATCACTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTGCAGCCTAGGCAACAAAACAAGACTCTGTCTCACAAAACAAAATAAAAAAATTTTAGGCCAGGTGTAGTGGCTCACGCCTGTAAT... | AAGCAGTAGAATCACTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTGCAGCCTAGGCAACAAAACAAGACTGTCTCACAAAACAAAATAAAAAATTTTTAGGCCGGGTGTAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAAGCAGTAGAATCACTTGATCCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTGCAGCCTAGGCAACAAAACAAGACTCTGTCTCACAAAACAAAATAAAAAAATTTTAGGCCAGGTGTAGTGGCTCACGCCTGTAAT... |
Task1_train_48224 | Chromosome 21 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Benign | TTTTTTTAAATAGGCAGTGGTCAGTGGCCTATTTGACTTCTCCTAAAAAAGACTTCAATATTTTAAAGTGTCATACGTTTTCTGATTATAGAAGTACTAACATGGTTAGTTTTAAAATGGAAATAATGAGGACATAAAAACCTAAGTGGAAGTCCTTTGTAATGCTAGTTGATAGAACTAGGGATTGTTAATGGCTTGCAGGTAGTCTCCCAGACTTTCCTAGTGGCTGTGTATTATACATACTCTCTCCTAACTGGGCTCATTCTACATAATACTCTTCTGCTGCTTGATTTTTTTTTTCCTTTCTTTTTAGAGACAGG... | TTTTTTTAAATAGGCAGTGGTCAGTGGCCTATTTGACTTCTCCTAAAAAAGACTTCAATATTTTAAAGTGTCATACGTTTTCTGATTATAGAAGTACTAACATGGTTAGTTTTAAAATGGAAATAATGAGGACATAAAAACCTAAGTGGAAGTCCTTTGTAATGCTAGTTGATAGAACTAGGGATTGTTAATGGCTTGCAGGTAGTCTCCCAGACTTTCCTAGTGGCTGTGTATTATACATACTCTCTCCTAACTGGGCTCATTCTACATAATACTCTTCTGCTGCTTGATTTTTTTTTTCCTTTCTTTTTAGAGACAGG... |
Task1_train_48225 | Consider a variant on Chromosome 21. Determine its clinical classification and disease relevance. | Benign | AATTTGTTACATTCCTAGGAAACCTTAAGCTATGGAAGAAAAAAAAAGTCTCATTCTACAAACAAGACATTTCAGGGGAGAAGCAGGGGAGAGTGTTAGGGGCTAGAGAGTGTTATTTGAAACACTTTTCCCTCCATAGGAATGAAAGTTTTTGTCATGGCCATCAAGTTTAAACCTTACTCAGTAAATCTGTTATATTTACTTGCTCCGCTTCCCACCCACCACCCTCAAAATATGGTGTTGTCTGCCAGCCAGTCCATATGATTGTGTAAGTCCATTCCTCACCATGGGCTGCTTGGTTTCTGCGTCTCCTCATTCAT... | AATTTGTTACATTCCTAGGAAACCTTAAGCTATGGAAGAAAAAAAAAGTCTCATTCTACAAACAAGACATTTCAGGGGAGAAGCAGGGGAGAGTGTTAGGGGCTAGAGAGTGTTATTTGAAACACTTTTCCCTCCATAGGAATGAAAGTTTTTGTCATGGCCATCAAGTTTAAACCTTACTCAGTAAATCTGTTATATTTACTTGCTCCGCTTCCCACCCACCACCCTCAAAATATGGTGTTGTCTGCCAGCCAGTCCATATGATTGTGTAAGTCCATTCCTCACCATGGGCTGCTTGGTTTCTGCGTCTCCTCATTCAT... |
Task1_train_48226 | A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | CCTCCCGGCGGCCTCAGTCCCAGCTTCCCGGGCCCAGCGCCCGGTCCCTGGGAAAGGCGGGGTTCTCCTCTCGCCCCGCCGCCCCGGTCCCCTACCCCGTTTGGCCCCCTCTTCCGGGAGGCTCCTCCCGGGGCGGGCCCCTCCCCGGGCTCTCAGGGCGCGCCCCTAGCCCCTACTAAGCGGGGACAGGCCGTGCAGACGGCCGGGGCCCCTAGGTAGCCTTTACCTGGGTGTTTCGTTTTGCTTTTCTGGATGTAGCGGCGTATCATAAACTTGTGGATGTCAGGACCCAGCGAAGCATTTTAGGTGGAGCTAGCAAG... | CCTCCCGGCGGCCTCAGTCCCAGCTTCCCGGGCCCAGCGCCCGGTCCCTGGGAAAGGCGGGGTTCTCCTCTCGCCCCGCCGCCCCGGTCCCCTACCCCGTTTGGCCCCCTCTTCCGGGAGGCTCCTCCCGGGGCGGGCCCCTCCCCGGGCTCTCAGGGCGCGCCCCTAGCCCCTACTAAGCGGGGACAGGCCGTGCAGACGGCCGGGGCCCCTAGGTAGCCTTTACCTGGGTGTTTCGTTTTGCTTTTCTGGATGTAGCGGCGTATCATAAACTTGTGGATGTCAGGACCCAGCGAAGCATTTTAGGTGGAGCTAGCAAG... |
Task1_train_48227 | A sequence alteration has been identified on Chromosome 21. Is it disease-inducing or harmless? | Benign | CCACTTCGTATCCTCCTTCCCTTTGCTTAATTTCTCCCCATAGTACGTTATCACCTGATACTATATACGTTTTTCTTATTTAACTTGCCCATTGACTATCTCCCCCCGGCATGAGAATGAAGACTCAAAGCAGGGCATTTTTGGCTGTTTTGGTCCTTCCTGGCCTGTAACAGTGCCTGGCACATGGTAAGCACCAATAAATACTTGAATTACTTTTTGGTTGTGGGTATGATGGAATTTAATTTTGTTTTGAGACAGTTTCGCTCGTTGCCCAGGCTGGAGTGCAAAAGTGCAATCTCAGCTCACGGCAACCTCCGCCT... | CCACTTCGTATCCTCCTTCCCTTTGCTTAATTTCTCCCCATAGTACGTTATCACCTGATACTATATACGTTTTTCTTATTTAACTTGCCCATTGACTATCTCCCCCCGGCATGAGAATGAAGACTCAAAGCAGGGCATTTTTGGCTGTTTTGGTCCTTCCTGGCCTGTAACAGTGCCTGGCACATGGTAAGCACCAATAAATACTTGAATTACTTTTTGGTTGTGGGTATGATGGAATTTAATTTTGTTTTGAGACAGTTTCGCTCGTTGCCCAGGCTGGAGTGCAAAAGTGCAATCTCAGCTCACGGCAACCTCCGCCT... |
Task1_train_48228 | A mutation found on Chromosome 21 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Benign | GTTTTTTAAAATGATTTTTATGGAAAATTAAAACTTAAAGAGAACTAGCCTAGAATGATTAAATACTAAAAACTTGATTCAGAATTATTTATCTAGTGGTTGAATTTACAATTAAAATTATAACATTTGATGCTGTGAAATTACATGTTTGATTAATAGATTTGGCATTTATATAAAAACTATACAGTTTGCTCTCAGTTGTTGAAACTTTAATTCCAAAAGCATATTTTTCTTTTTATCTCTCTTCAGTAAACATTTTGAACCTATGACTATTTTTTACCCTGAAATACTCAATGTACTGTCTAAATTATTACTTCTCT... | GTTTTTTAAAATGATTTTTATGGAAAATTAAAACTTAAAGAGAACTAGCCTAGAATGATTAAATACTAAAAACTTGATTCAGAATTATTTATCTAGTGGTTGAATTTACAATTAAAATTATAACATTTGATGCTGTGAAATTACATGTTTGATTAATAGATTTGGCATTTATATAAAAACTATACAGTTTGCTCTCAGTTGTTGAAACTTTAATTCCAAAAGCATATTTTTCTTTTTATCTCTCTTCAGTAAACATTTTGAACCTATGACTATTTTTTACCCTGAAATACTCAATGTACTGTCTAAATTATTACTTCTCT... |
Task1_train_48229 | Assess the clinical impact of this variant found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable. | Benign | TGAGTAATAAGTGTGCCTAAAAATTATTTGTATCTCATTTCTCCCTCATTCATTCATTCGGTAATTAGTGGTGATAAAGACTGATGTGGGCTGTGCCCTCAAAGTGCACATGGACTTGGGGAAAGGCAGACTTTAAACCCATTGTTACCTGCAGCAGAGTGAGGTTTCTCATGGCAGAATGCTGGAGCGGCGTGGATCAGGGGCCACTAACCTAATCTAGAGGTGTGGCCTCAGCGGGAGATTCCCAGTTGGAAGTCTCCCAGAGACAGAGATCTGCAATAGGAACTTACCAGACAAAGGAGTGAGAGGGGTGTGTTTGG... | TGAGTAATAAGTGTGCCTAAAAATTATTTGTATCTCATTTCTCCCTCATTCATTCATTCGGTAATTAGTGGTGATAAAGACTGATGTGGGCTGTGCCCTCAAAGTGCACATGGACTTGGGGAAAGGCAGACTTTAAACCCATTGTTACCTGCAGCAGAGTGAGGTTTCTCATGGCAGAATGCTGGAGCGGCGTGGATCAGGGGCCACTAACCTAATCTAGAGGTGTGGCCTCAGCGGGAGATTCCCAGTTGGAAGTCTCCCAGAGACAGAGATCTGCAATAGGAACTTACCAGACAAAGGAGTGAGAGGGGTGTGTTTGG... |
Task1_train_48230 | A genetic alteration is present on Chromosome 21. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Benign | ATTGTGTGGTTACTTCCTGTGTCCTGACAACTTGTGCCTGGATCCCTGATGTGATCATTTAGATCTGGTAGAAATACCAGGTGGAGTCAGCCTCCTAAAGATGGAACAGTGGGTAACAGGTGTAGAAGCTGGGGCATGAGGTGGTGGCGTGCTCTCCTTGCATGAAGGCCCTCTCTCCCCTGCTGCTCCCGCTGTTGGTGCTGATGTTCAGACTCATGGACAGTGAGCCCTACAATGTGTCATACCCCTGGGGCTGAGGGCAAGAGGGAAAGGGAACAATGGCCCACACCAAAATGTAAAAGGCCCTCCGGGAGTTCTGG... | ATTGTGTGGTTACTTCCTGTGTCCTGACAACTTGTGCCTGGATCCCTGATGTGATCATTTAGATCTGGTAGAAATACCAGGTGGAGTCAGCCTCCTAAAGATGGAACAGTGGGTAACAGGTGTAGAAGCTGGGGCATGAGGTGGTGGCGTGCTCTCCTTGCATGAAGGCCCTCTCTCCCCTGCTGCTCCCGCTGTTGGTGCTGATGTTCAGACTCATGGACAGTGAGCCCTACAATGTGTCATACCCCTGGGGCTGAGGGCAAGAGGGAAAGGGAACAATGGCCCACACCAAAATGTAAAAGGCCCTCCGGGAGTTCTGG... |
Task1_train_48231 | Assess the clinical impact of this variant found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable. | Benign | GTAGCTGGAAATGATGGCCACAATTCCTCAGACGCCTGCCGGCTCTTTCTTCCACGTCTTTAGTAGGGGATCAACAAGGTCACTTACTGTAGGGAGTGATTTACTCCGCCTTCCCTGGATCACATCAGATTGATTCTAATCAGATATCTATGTACTGTTACTCCCTGAACAAGCATTTGGCAGTACTGGTAGTGGGGAGCCAAGATGGATTTAATTTCCTTTGGCCGATATGCTTCATTTTCATGATAACATTTCTCAAAACTTAACGGAGGGGCTCTTGATTTCTGAATCTGCCCTTTTTTCTAGAAGGGTAAGGCAGG... | GTAGCTGGAAATGATGGCCACAATTCCTCAGACGCCTGCCGGCTCTTTCTTCCACGTCTTTAGTAGGGGATCAACAAGGTCACTTACTGTAGGGAGTGATTTACTCCGCCTTCCCTGGATCACATCAGATTGATTCTAATCAGATATCTATGTACTGTTACTCCCTGAACAAGCATTTGGCAGTACTGGTAGTGGGGAGCCAAGATGGATTTAATTTCCTTTGGCCGATATGCTTCATTTTCATGATAACATTTCTCAAAACTTAACGGAGGGGCTCTTGATTTCTGAATCTGCCCTTTTTTCTAGAAGGGTAAGGCAGG... |
Task1_train_48232 | A variant on Chromosome 21 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Benign | ATTTCCTTTGGCCGATATGCTTCATTTTCATGATAACATTTCTCAAAACTTAACGGAGGGGCTCTTGATTTCTGAATCTGCCCTTTTTTCTAGAAGGGTAAGGCAGGAAGGTAAGATCTCATTCTCAGATGATTAAGACCAGCACCCTCCTGCAGTATCCACGCTCCCACCCTGGGGCTTTCCTTTGAAATCAGCAAGAGTCTGTGTAGATGAAGAGATACGAGTCAGGAGCAGGTCCACATAGAAGCGGCTTTCCCATATTAATAATAATGTTTCACAATAATATCACTTTGGGTGCTTCCTCTACTCCTTGGAGCCAT... | ATTTCCTTTGGCCGATATGCTTCATTTTCATGATAACATTTCTCAAAACTTAACGGAGGGGCTCTTGATTTCTGAATCTGCCCTTTTTTCTAGAAGGGTAAGGCAGGAAGGTAAGATCTCATTCTCAGATGATTAAGACCAGCACCCTCCTGCAGTATCCACGCTCCCACCCTGGGGCTTTCCTTTGAAATCAGCAAGAGTCTGTGTAGATGAAGAGATACGAGTCAGGAGCAGGTCCACATAGAAGCGGCTTTCCCATATTAATAATAATGTTTCACAATAATATCACTTTGGGTGCTTCCTCTACTCCTTGGAGCCAT... |
Task1_train_48233 | A mutation on Chromosome 21 has been found. Is it harmful or harmless? What disease, if any, does it cause? | Benign | ATGCATGCAGTCACTTGCAGACAGGCTGCATTTGTCTCTGCTGGTGCTCATGTTACAAGTTTGTCTGTGCATTTGGGCATGCCAGAATGGCGTTTCATTTCCAAACCTTTATTGTGGTCACTTTCCTCTTCGTTACACTGAGAAGTGTTGCTGAGGGTATAGTAAGGCCCTAGTTCATCAATTATATCCTGTACTTTTCTTCTAACTTGATCCCAAGAACAGTGGAATTTGCTTCAAGGTAAACAAATTTTGAATAATTTATGGCCCTTCTTTTCAACAAAAATGAAAACGTGACTTTCTAAAGAAAAGTCAATTACAAG... | ATGCATGCAGTCACTTGCAGACAGGCTGCATTTGTCTCTGCTGGTGCTCATGTTACAAGTTTGTCTGTGCATTTGGGCATGCCAGAATGGCGTTTCATTTCCAAACCTTTATTGTGGTCACTTTCCTCTTCGTTACACTGAGAAGTGTTGCTGAGGGTATAGTAAGGCCCTAGTTCATCAATTATATCCTGTACTTTTCTTCTAACTTGATCCCAAGAACAGTGGAATTTGCTTCAAGGTAAACAAATTTTGAATAATTTATGGCCCTTCTTTTCAACAAAAATGAAAACGTGACTTTCTAAAGAAAAGTCAATTACAAG... |
Task1_train_48234 | Consider this mutation on Chromosome 21. Is this a benign change or a disease-causing variant? | Benign | CTGCTCATATATGTTGGAAACAGCCCAGCATGAGCAAAGCACCACCTCCTAGCCCCCAGCCTGTGCCAGCCCTGCAAAGAGGAAATATGGCTCCACTCAGGGAGCCCATCAGCGACTCAGGGAGCCCTGGAGCACCTGGCACTCAGCACCCATGAACACGAGGGCAGGCATGGTGGGACAAGGCAGTCTGCTTGGGGCAAGTGAGCTTCGGGAAGTAGCTGAGCTTTGGGGAGCAGCTGTCTATACCCAGCTTCTCAGGGCTGTGCAAGTAGCCTGAGGGAGAAAGACCCTATATTAGCTGAAACTGCAGCCCAGATGAG... | CTGCTCATATATGTTGGAAACAGCCCAGCATGAGCAAAGCACCACCTCCTAGCCCCCAGCCTGTGCCAGCCCTGCAAAGAGGAAATATGGCTCCACTCAGGGAGCCCATCAGCGACTCAGGGAGCCCTGGAGCACCTGGCACTCAGCACCCATGAACACGAGGGCAGGCATGGTGGGACAAGGCAGTCTGCTTGGGGCAAGTGAGCTTCGGGAAGTAGCTGAGCTTTGGGGAGCAGCTGTCTATACCCAGCTTCTCAGGGCTGTGCAAGTAGCCTGAGGGAGAAAGACCCTATATTAGCTGAAACTGCAGCCCAGATGAG... |
Task1_train_48235 | This sequence change occurs on Chromosome 21. What is the medical significance of this variant — is it benign or linked to a disease? | Benign | TGCTCATATATGTTGGAAACAGCCCAGCATGAGCAAAGCACCACCTCCTAGCCCCCAGCCTGTGCCAGCCCTGCAAAGAGGAAATATGGCTCCACTCAGGGAGCCCATCAGCGACTCAGGGAGCCCTGGAGCACCTGGCACTCAGCACCCATGAACACGAGGGCAGGCATGGTGGGACAAGGCAGTCTGCTTGGGGCAAGTGAGCTTCGGGAAGTAGCTGAGCTTTGGGGAGCAGCTGTCTATACCCAGCTTCTCAGGGCTGTGCAAGTAGCCTGAGGGAGAAAGACCCTATATTAGCTGAAACTGCAGCCCAGATGAGT... | TGCTCATATATGTTGGAAACAGCCCAGCATGAGCAAAGCACCACCTCCTAGCCCCCAGCCTGTGCCAGCCCTGCAAAGAGGAAATATGGCTCCACTCAGGGAGCCCATCAGCGACTCAGGGAGCCCTGGAGCACCTGGCACTCAGCACCCATGAACACGAGGGCAGGCATGGTGGGACAAGGCAGTCTGCTTGGGGCAAGTGAGCTTCGGGAAGTAGCTGAGCTTTGGGGAGCAGCTGTCTATACCCAGCTTCTCAGGGCTGTGCAAGTAGCCTGAGGGAGAAAGACCCTATATTAGCTGAAACTGCAGCCCAGATGAGT... |
Task1_train_48236 | A mutation on Chromosome 21 is under examination. Does this mutation cause a disorder, or is it a benign change? | Benign | CTGCACATCTTCGAGTAATCCTCAGGAGACCTGTTCTGGCTTTTGATGATTTCTTAACCACCTGTAAACTACTGTCTGAGTCACTGGAACAGACCCTTTTCCTGGAAATTTTTCTGCTTAGTCCATTGTCTTGTGATGCAGAATCTAAAAGTTAAAGAGCAGATTTCTATTAATCTTTTGTAAGTCTAAAGGAATTATATGTTCAATATTAAAAACAAGTTCAGAATTCGTATTAATTTGAAGGGGGTATTGCAGTGAATGGAATGGTACACACCTATTAGTATAGTCATATGTTGCTCAACAGCAAGGATACGTTCTGA... | CTGCACATCTTCGAGTAATCCTCAGGAGACCTGTTCTGGCTTTTGATGATTTCTTAACCACCTGTAAACTACTGTCTGAGTCACTGGAACAGACCCTTTTCCTGGAAATTTTTCTGCTTAGTCCATTGTCTTGTGATGCAGAATCTAAAAGTTAAAGAGCAGATTTCTATTAATCTTTTGTAAGTCTAAAGGAATTATATGTTCAATATTAAAAACAAGTTCAGAATTCGTATTAATTTGAAGGGGGTATTGCAGTGAATGGAATGGTACACACCTATTAGTATAGTCATATGTTGCTCAACAGCAAGGATACGTTCTGA... |
Task1_train_48237 | Located on Chromosome 21, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | ACTACTGGAAGCTGACGATGACAAAGAGGTAGCTAAAGAATCTTCCACTTCACTTTCTAGGAAAAATAAAGTGTAAATAGTTACATATATTCTCCTGTCTTTACACACATAAGCAAGCAGTTCATAACATTACTCTGAACATTACATAACATTACTACAAAAGCAGATTCCTAAAATGCTTAGAATATATTTTTTAAAAACCATTCCCAAAAAAAGCTGATGAAATTTGGAGTATTAAAAGGTACATAATCAGCATTCCAAATAGTTTTTAATTATATTTCTAAAAATAACAGATTAATCCTAGTGTAGATTTACAAAAT... | ACTACTGGAAGCTGACGATGACAAAGAGGTAGCTAAAGAATCTTCCACTTCACTTTCTAGGAAAAATAAAGTGTAAATAGTTACATATATTCTCCTGTCTTTACACACATAAGCAAGCAGTTCATAACATTACTCTGAACATTACATAACATTACTACAAAAGCAGATTCCTAAAATGCTTAGAATATATTTTTTAAAAACCATTCCCAAAAAAAGCTGATGAAATTTGGAGTATTAAAAGGTACATAATCAGCATTCCAAATAGTTTTTAATTATATTTCTAAAAATAACAGATTAATCCTAGTGTAGATTTACAAAAT... |
Task1_train_48238 | A mutation on Chromosome 21 has been found. Is it harmful or harmless? What disease, if any, does it cause? | Benign | TCAAAGCTTCTTTGCCGTCAGTTCATGACACATCACTATCCTCTGCATTTGCTTTTACTGTATCCTCACTATTCCCTATAAACTCTGCTCTGGCAGTCCGTGCAGAGATCTATGATCCCATAGGGCTTGTTTTTAAAGGATTCTTGCCTACTGATCAGCCCACAGGCAAAACAACACACCAAGTGTACAGAGGTTTAAATTCTGTTCCAAGGATCCCTATTTAGTGATAACCTCAACAAGGTCTGTTCTCCGGCCGTTTTCACTGTTGCCAAGTCAAGAGTTGCCCCACACCACCTCTGAAGACTATACTTAAGAGGGCA... | TCAAAGCTTCTTTGCCGTCAGTTCATGACACATCACTATCCTCTGCATTTGCTTTTACTGTATCCTCACTATTCCCTATAAACTCTGCTCTGGCAGTCCGTGCAGAGATCTATGATCCCATAGGGCTTGTTTTTAAAGGATTCTTGCCTACTGATCAGCCCACAGGCAAAACAACACACCAAGTGTACAGAGGTTTAAATTCTGTTCCAAGGATCCCTATTTAGTGATAACCTCAACAAGGTCTGTTCTCCGGCCGTTTTCACTGTTGCCAAGTCAAGAGTTGCCCCACACCACCTCTGAAGACTATACTTAAGAGGGCA... |
Task1_train_48239 | Located on Chromosome 21, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | ATAATGAGGAACTAAAAGGATCAGTTTTGAATTTATCACTTTCATTTAGGTGTTTGAAGAATCTGAAAAGCACAGGTATTAATATGACCATACTAACTTGATACATTAAGTTCAAAATTTAAGCCATGTTAAAGAAACATAAAAATACTTTTAGATACCATCCATCAATACTGAGAAGAAAGCTTAACATTTATTCCTTGTTAGTAAGTATACAGCAGCAGCTAAATTAGTTTAGCCCCCAGCGGGTGGTATAAAAGACCCATACGGATACTGACCAATTACTTGAATTAAAGGGCCATAAAGACAAGCAAGTAGAGCTC... | ATAATGAGGAACTAAAAGGATCAGTTTTGAATTTATCACTTTCATTTAGGTGTTTGAAGAATCTGAAAAGCACAGGTATTAATATGACCATACTAACTTGATACATTAAGTTCAAAATTTAAGCCATGTTAAAGAAACATAAAAATACTTTTAGATACCATCCATCAATACTGAGAAGAAAGCTTAACATTTATTCCTTGTTAGTAAGTATACAGCAGCAGCTAAATTAGTTTAGCCCCCAGCGGGTGGTATAAAAGACCCATACGGATACTGACCAATTACTTGAATTAAAGGGCCATAAAGACAAGCAAGTAGAGCTC... |
Task1_train_48240 | This alteration on Chromosome 21 may affect genome function. Does it lead to a disease or is it benign? | Benign | ACTTGAAATAATACCACGTGTAACCATTATCAGCTGAAAAGCTAGATTAAAAAAAAATCAATCAAGTTTCCCAAAGTATAATGTTTGGACCTTCAAAATATTTAGTTCTAGGGAAAGATACAAGTCAGAAGCACACACAGTGACAAGATATGCCTTGAAAACATGTCTACTGTGTAGTATGATAATCGATACACCAAGTGCTTACGTTCTGTTTAGACTTCAAAGTCTGATCAACCATGAAGTCAAAGGTGTATTACAGAAACGAGATGTAAAAATGAACAAATCCCTTCTGCCCTTTTTCCTTTTGGGAAAACTGACCT... | ACTTGAAATAATACCACGTGTAACCATTATCAGCTGAAAAGCTAGATTAAAAAAAAATCAATCAAGTTTCCCAAAGTATAATGTTTGGACCTTCAAAATATTTAGTTCTAGGGAAAGATACAAGTCAGAAGCACACACAGTGACAAGATATGCCTTGAAAACATGTCTACTGTGTAGTATGATAATCGATACACCAAGTGCTTACGTTCTGTTTAGACTTCAAAGTCTGATCAACCATGAAGTCAAAGGTGTATTACAGAAACGAGATGTAAAAATGAACAAATCCCTTCTGCCCTTTTTCCTTTTGGGAAAACTGACCT... |
Task1_train_48241 | Given this variant on Chromosome 21, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Benign | TAAAATATCCTAAGTTTAGTAAATATATTAGTTAGGACTGAGCAGCTAGCTCGAATAAACACCAGCAGGGCCATGGTACTGTTTTATGGTTTTTAGAACAAGGTTAACAGAAAAATGGTCAACATACAGGTATGCAACAAATCTCAATAAATGATACTGGATCTCAGGTGTACACAAGGAAAGCATCACCCACAAAGGCAGGACATTGGATACCCAGGTTAGCTGAATAAGAGAAACTCAAAAATGATTTTCATGGCTGGGCACGGTGGCTCACGCCTGTCATTCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACC... | TAAAATATCCTAAGTTTAGTAAATATATTAGTTAGGACTGAGCAGCTAGCTCGAATAAACACCAGCAGGGCCATGGTACTGTTTTATGGTTTTTAGAACAAGGTTAACAGAAAAATGGTCAACATACAGGTATGCAACAAATCTCAATAAATGATACTGGATCTCAGGTGTACACAAGGAAAGCATCACCCACAAAGGCAGGACATTGGATACCCAGGTTAGCTGAATAAGAGAAACTCAAAAATGATTTTCATGGCTGGGCACGGTGGCTCACGCCTGTCATTCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACC... |
Task1_train_48242 | Consider this mutation on Chromosome 21. Is this a benign change or a disease-causing variant? | Benign | TGCATGATCCCACAAAAGCTTACCATCAATATAAAATGTAGTATATAGATTCAAGATCTCTTATTGTAAACCCTTGGAACCAGACTGTTTCAGAATTTGGGGGTGGGTTTTAAAGGTGAGTGCATATATGGTATTTTCCACAGTTCTCTCATTGGGGTCTGGAACAACACCCTTTAATGAAACTATATTTTTGCAGTGAAATTATAATCACTATTCACACTAAGTGAAATAACTAAAGATCTGCTTCATATTAGTTCAAATAAGGTTTTTGTTGCCAAATCAACTTTGATGCCAAGGATATGAAAGATGTTGGGTTTTTG... | TGCATGATCCCACAAAAGCTTACCATCAATATAAAATGTAGTATATAGATTCAAGATCTCTTATTGTAAACCCTTGGAACCAGACTGTTTCAGAATTTGGGGGTGGGTTTTAAAGGTGAGTGCATATATGGTATTTTCCACAGTTCTCTCATTGGGGTCTGGAACAACACCCTTTAATGAAACTATATTTTTGCAGTGAAATTATAATCACTATTCACACTAAGTGAAATAACTAAAGATCTGCTTCATATTAGTTCAAATAAGGTTTTTGTTGCCAAATCAACTTTGATGCCAAGGATATGAAAGATGTTGGGTTTTTG... |
Task1_train_48243 | This mutation is located on Chromosome 21. Is it associated with a disease or is it a benign polymorphism? | Benign | ATTAATTTCTCCCCAGGGTTTGCAGATGGAGGAGGTGTCATTATTGAGGGCAGTTTTCACCTGATATAATCAAGAGATGCGTATTCTCTAGAGCACCTGAGAATCCAGCTATAGTTTATGCTACTAACTTACAAAGTCATTAGAAAATATGCCCCCACTTTCTTCAAGTAATATTTGGAGAAATATGGCATGCTTATGTGGCAGACTTTAAGGTGTGAAAATATATAATTGTATGAAAAAATAATACGTACTGTAGAAATTTTGAAAATGCAGAAAAGAAAAACTGATCTGTAATCCTTGGTGTGCTTTAAAATAAAATT... | ATTAATTTCTCCCCAGGGTTTGCAGATGGAGGAGGTGTCATTATTGAGGGCAGTTTTCACCTGATATAATCAAGAGATGCGTATTCTCTAGAGCACCTGAGAATCCAGCTATAGTTTATGCTACTAACTTACAAAGTCATTAGAAAATATGCCCCCACTTTCTTCAAGTAATATTTGGAGAAATATGGCATGCTTATGTGGCAGACTTTAAGGTGTGAAAATATATAATTGTATGAAAAAATAATACGTACTGTAGAAATTTTGAAAATGCAGAAAAGAAAAACTGATCTGTAATCCTTGGTGTGCTTTAAAATAAAATT... |
Task1_train_48244 | Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Benign | AGGAACTCCCCAGGGGTGCCAAGCAGAGCAGGTAGTTGGCTAAGTTTGCCTCCAGGAAAGAAGTCCCTGGAGAGCGAGCTGGTTCTAGAAAGCTCCATTATTATATTCCTATTGCTTTTGGCGAATATATGTAGAACAGAATTTTGACAATGAAATTTTCAGGTGCTCTTTTGGCCATCAAAATAACCAGCTCTTGGCTGGGCACAGTGGCTTGCCCTTGTAATTCCAGTGTTTTGGGAGGCCAAGGCAGGGGACTGCGTGAGCCCAGGAGTTTGAGACTAGCCTGGGCAACATAGTGAAACCCCATCTCTACAAAAAAT... | AGGAACTCCCCAGGGGTGCCAAGCAGAGCAGGTAGTTGGCTAAGTTTGCCTCCAGGAAAGAAGTCCCTGGAGAGCGAGCTGGTTCTAGAAAGCTCCATTATTATATTCCTATTGCTTTTGGCGAATATATGTAGAACAGAATTTTGACAATGAAATTTTCAGGTGCTCTTTTGGCCATCAAAATAACCAGCTCTTGGCTGGGCACAGTGGCTTGCCCTTGTAATTCCAGTGTTTTGGGAGGCCAAGGCAGGGGACTGCGTGAGCCCAGGAGTTTGAGACTAGCCTGGGCAACATAGTGAAACCCCATCTCTACAAAAAAT... |
Task1_train_48245 | Given this context: Chromosome 21 — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Benign | CACATCATGCTCATAATTATACGGATCTTACTGCTTAGGAGGAGGCCTAATTAATTGTGTGCAATTAACAGCCGTTAATTGTGTTTTAGAGATCAAGTTAAAGAATAATCCTTGGTAAATCTTGGCTGCGGGTGACTGATGGAAGTTTCAGAGGCTGGACTGGAAGATGAAACTGGGGCAAGATGTTACACAGCATGGCCTCAGGAACCTGAGCTCCAGCAACCTGCGGGTCCCAATGGAGGCGAAGTCAAGGAGCGTCTCAGAGAGTGGTTGATGTGTGAAGTCTCTGTCTGCCCATCTGAATAACAAGAGATGGGGCT... | CACATCATGCTCATAATTATACGGATCTTACTGCTTAGGAGGAGGCCTAATTAATTGTGTGCAATTAACAGCCGTTAATTGTGTTTTAGAGATCAAGTTAAAGAATAATCCTTGGTAAATCTTGGCTGCGGGTGACTGATGGAAGTTTCAGAGGCTGGACTGGAAGATGAAACTGGGGCAAGATGTTACACAGCATGGCCTCAGGAACCTGAGCTCCAGCAACCTGCGGGTCCCAATGGAGGCGAAGTCAAGGAGCGTCTCAGAGAGTGGTTGATGTGTGAAGTCTCTGTCTGCCCATCTGAATAACAAGAGATGGGGCT... |
Task1_train_48246 | A variant has been detected on Chromosome 21. What is its effect — pathogenic or benign? If pathogenic, name the disease. | Benign | TTAAAGAATAATCCTTGGTAAATCTTGGCTGCGGGTGACTGATGGAAGTTTCAGAGGCTGGACTGGAAGATGAAACTGGGGCAAGATGTTACACAGCATGGCCTCAGGAACCTGAGCTCCAGCAACCTGCGGGTCCCAATGGAGGCGAAGTCAAGGAGCGTCTCAGAGAGTGGTTGATGTGTGAAGTCTCTGTCTGCCCATCTGAATAACAAGAGATGGGGCTTGTGATTTTCCTCCACGGTATGTTGTCTGGTTCCTAATCCCCTCTCATTACTGTCAGTTTTAACTGTGTGTGGGTCTATGTGTGTTCACCTCTCATG... | TTAAAGAATAATCCTTGGTAAATCTTGGCTGCGGGTGACTGATGGAAGTTTCAGAGGCTGGACTGGAAGATGAAACTGGGGCAAGATGTTACACAGCATGGCCTCAGGAACCTGAGCTCCAGCAACCTGCGGGTCCCAATGGAGGCGAAGTCAAGGAGCGTCTCAGAGAGTGGTTGATGTGTGAAGTCTCTGTCTGCCCATCTGAATAACAAGAGATGGGGCTTGTGATTTTCCTCCACGGTATGTTGTCTGGTTCCTAATCCCCTCTCATTACTGTCAGTTTTAACTGTGTGTGGGTCTATGTGTGTTCACCTCTCATG... |
Task1_train_48247 | A mutation on Chromosome 21 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Benign | TACATAAAGACTGGCCTTGGAGTGAAATAATCTCAGCACTTCGCACAAGGCACTGGAAGGAACTGGGGTTTCAGAGGGATGCTTGTTCTGTTGGCATTGTGTGGCCCGGACTTCTCACAGGGTGAGGCTGGGGCTCACCCACCCCATCATCCCCACACTCACCCTGCTGGGCTCTGTCCACTTGACTGCCATTGACCCGAGGTGGGAGTGCAGGAGGAGTGTGGTTATTACATCACGGACCCTCGGGGCGCAGACTCGGCTGTTTTCTCTTCTTCTTAACAAGCAATTCAGAGTTCATGGAAAGGGCATTGCGGCTTCCC... | TACATAAAGACTGGCCTTGGAGTGAAATAATCTCAGCACTTCGCACAAGGCACTGGAAGGAACTGGGGTTTCAGAGGGATGCTTGTTCTGTTGGCATTGTGTGGCCCGGACTTCTCACAGGGTGAGGCTGGGGCTCACCCACCCCATCATCCCCACACTCACCCTGCTGGGCTCTGTCCACTTGACTGCCATTGACCCGAGGTGGGAGTGCAGGAGGAGTGTGGTTATTACATCACGGACCCTCGGGGCGCAGACTCGGCTGTTTTCTCTTCTTCTTAACAAGCAATTCAGAGTTCATGGAAAGGGCATTGCGGCTTCCC... |
Task1_train_48248 | 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 | TTATTGTTGCCTTTTTCACCCTTCTTCTCACAAGTGCACAGGAGAGCTTTCCACTATACATTGGGAAGGTCTGCATGCCTCAGAATTTTCCAGATGACTGAAGTGTAACAAAATCATGCAAGGATAAAAGGTCCATTCAAAGTGCCAGATAGTGCAATGGGTTTCAACATAACAGAAAATGAAAGTTCCTTGATAGAGTTTCAGATTCCACTGTGTAACAAACATTTAAGAAACCTCAGCCGGGAATGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCCAGGCGGGCAGCTCACTTGAGCCCAGGAGTTTGAG... | TTATTGTTGCCTTTTTCACCCTTCTTCTCACAAGTGCACAGGAGAGCTTTCCACTATACATTGGGAAGGTCTGCATGCCTCAGAATTTTCCAGATGACTGAAGTGTAACAAAATCATGCAAGGATAAAAGGTCCATTCAAAGTGCCAGATAGTGCAATGGGTTTCAACATAACAGAAAATGAAAGTTCCTTGATAGAGTTTCAGATTCCACTGTGTAACAAACATTTAAGAAACCTCAGCCGGGAATGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCCAGGCGGGCAGCTCACTTGAGCCCAGGAGTTTGAG... |
Task1_train_48249 | This mutation occurs on Chromosome 21. Does this change lead to a known medical condition, or is it benign? | Benign | TCAGGAGTTGGCACATTTTTTCCATAAAAGGCCCTGTAGTAAATAGTTTTAGTTTTGCCAGCCATATGGTCTCTGTCATGAGGACTCAACTCTGCTGTTATAACATGAGTATGGCTACATGTTTAGGTAGCCATAGACAATATGTGAGCTGATAGATGTAACCGTGTTCCAATGAAACTTTATTTACAAAAACAAGGAGTGGGTCAGATTTGGCCTGTGGGTCATAGCTTGCTGACTCTTGTTTTATTTGGTGAATGGTTTCTGAGAGTTGAGTAACAACTGGGGAGTAGAGTCCATGGACCAGGATAAACTTTCATCTC... | TCAGGAGTTGGCACATTTTTTCCATAAAAGGCCCTGTAGTAAATAGTTTTAGTTTTGCCAGCCATATGGTCTCTGTCATGAGGACTCAACTCTGCTGTTATAACATGAGTATGGCTACATGTTTAGGTAGCCATAGACAATATGTGAGCTGATAGATGTAACCGTGTTCCAATGAAACTTTATTTACAAAAACAAGGAGTGGGTCAGATTTGGCCTGTGGGTCATAGCTTGCTGACTCTTGTTTTATTTGGTGAATGGTTTCTGAGAGTTGAGTAACAACTGGGGAGTAGAGTCCATGGACCAGGATAAACTTTCATCTC... |
Task1_train_48250 | This alteration on Chromosome 21 may affect genome function. Does it lead to a disease or is it benign? | Benign | ATCTTGCAACAAGCCCAGCAAACACAGCTGACCATGATGGCCATGCGGGCGGCCATGATGGAAAGTGCCCCCTTCCTCCCTGGATGAGGGCCCGAGTGATCCATGAATCTCACCACTGAGCAGACACAGACACCCTGAGGCTGGAGAGCCACCTTACTGCCCACGTCCCCTTCACTGGCCTTTGCAGCTCTGGCCACGCCATGCCCAGTACAGTGTGGCCTGTGCTTTAAGGTACAACCGAGTGTTGATCTGAACATAAACCTAACACTGGGAGCCAGGTAGCACAGGCTTTTGTTTTCCAGATGAGAAAACTGAGCACC... | ATCTTGCAACAAGCCCAGCAAACACAGCTGACCATGATGGCCATGCGGGCGGCCATGATGGAAAGTGCCCCCTTCCTCCCTGGATGAGGGCCCGAGTGATCCATGAATCTCACCACTGAGCAGACACAGACACCCTGAGGCTGGAGAGCCACCTTACTGCCCACGTCCCCTTCACTGGCCTTTGCAGCTCTGGCCACGCCATGCCCAGTACAGTGTGGCCTGTGCTTTAAGGTACAACCGAGTGTTGATCTGAACATAAACCTAACACTGGGAGCCAGGTAGCACAGGCTTTTGTTTTCCAGATGAGAAAACTGAGCACC... |
Task1_train_48251 | A genomic change on Chromosome 21 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant. | Benign | AGAAGAAGCAGTCAGAAGGGAGGCAGAGAATATTCCAGAAGCATTGGAGAATCACCTAGATGTGGAAGAAGGGAACAATGATAAAAATAAGCACATTAAGAATAAAGGCTTTTAAAATATAGGTAGTGATAAACGCCTTTAGAGAGAAAGCAGTAACATACTCTGAGTTGAGAAGGAGACAGGAGAATGGGGAACAACACATCTTTGTGGATGGAGGCTAAGAGAGTTGGGAAGTGTTAGATAACCAAGTATTGGGAAATAATCTTCCATGTGGAGGAAGCAACATAAGTAATGTGACTTGCAATCAGGAAAGGAATAGG... | AGAAGAAGCAGTCAGAAGGGAGGCAGAGAATATTCCAGAAGCATTGGAGAATCACCTAGATGTGGAAGAAGGGAACAATGATAAAAATAAGCACATTAAGAATAAAGGCTTTTAAAATATAGGTAGTGATAAACGCCTTTAGAGAGAAAGCAGTAACATACTCTGAGTTGAGAAGGAGACAGGAGAATGGGGAACAACACATCTTTGTGGATGGAGGCTAAGAGAGTTGGGAAGTGTTAGATAACCAAGTATTGGGAAATAATCTTCCATGTGGAGGAAGCAACATAAGTAATGTGACTTGCAATCAGGAAAGGAATAGG... |
Task1_train_48252 | Located on Chromosome 21, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | TGTCGTGTCCACATGTTTGTTTTTGTTCAGCTGGGGCCACCGTTACCTATTCCTTCATGTAGCTGCTTGTTACACATTCAAAAGGTAAATAATGTTCCTTTTCAGCCTTCTCCAAGCTAAACAGCAGCTTGTTGCTCAGGATCTCAGGTGTGGCGTGTTGTCTAGAAGAGCCCCTGAACATTGTCTGGTTAGCCAGTTTCCTTCTCCAAATACAACACTTGGATGAAACAGTCCAGCTACGACCCACATGCACAGAATACAGGGCACGGCCTTTTCCTTTGAACGTGTTCTGCTGCTGTCTTAGCCCACTCTGCACTCTG... | TGTCGTGTCCACATGTTTGTTTTTGTTCAGCTGGGGCCACCGTTACCTATTCCTTCATGTAGCTGCTTGTTACACATTCAAAAGGTAAATAATGTTCCTTTTCAGCCTTCTCCAAGCTAAACAGCAGCTTGTTGCTCAGGATCTCAGGTGTGGCGTGTTGTCTAGAAGAGCCCCTGAACATTGTCTGGTTAGCCAGTTTCCTTCTCCAAATACAACACTTGGATGAAACAGTCCAGCTACGACCCACATGCACAGAATACAGGGCACGGCCTTTTCCTTTGAACGTGTTCTGCTGCTGTCTTAGCCCACTCTGCACTCTG... |
Task1_train_48253 | A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | CCTCTGCCCATTCCCAGGCACACCCTCCAGTGGGCACCCAAGTTACCCTCACCCCAGAATCTCAAGCCCACCACCTGTCTTTCTCCAGACACTCCCTTGTCACCTGGAGCCTGGTTGGTTGGTATATTTGTTTTGGCATTTCCCTGCTAGGATGGTGTGCCAGGAGTGAGGGCTTGGTCTGACTTGATCACCACAATAACCACGTGGTGGAAAGTGCCTGGCACATTCAGAGTCGTACCCTTGTATGAGTCTGCTCAGGCTGCCATGGCAAAAGACCACAGACTGGGTGGCTTAGACAACACACATTGGTTCTCTCACAG... | CCTCTGCCCATTCCCAGGCACACCCTCCAGTGGGCACCCAAGTTACCCTCACCCCAGAATCTCAAGCCCACCACCTGTCTTTCTCCAGACACTCCCTTGTCACCTGGAGCCTGGTTGGTTGGTATATTTGTTTTGGCATTTCCCTGCTAGGATGGTGTGCCAGGAGTGAGGGCTTGGTCTGACTTGATCACCACAATAACCACGTGGTGGAAAGTGCCTGGCACATTCAGAGTCGTACCCTTGTATGAGTCTGCTCAGGCTGCCATGGCAAAAGACCACAGACTGGGTGGCTTAGACAACACACATTGGTTCTCTCACAG... |
Task1_train_48254 | A mutation has occurred on Chromosome 21. What is the medical relevance of this mutation? | Benign | CACAGATCTTCTGAGGATCTTGTTAAGATGCAGTTTCAGATTCTGTGGGTCTGGAGTGGGGCCTAGAATTCTGCATTTCCAGCAAGCCCCCAGACAATGTGGATATTCCTTTTCAGGGGACCACAGTCAGGGGGAATGCTGATAGACTATATCTACTGGGCCAAAATAAAAATTAAAATCTTATGCACAAGCTACTAACTCTTCCTTTCTCATTGACAACCACTATTATAATGTCTTAGTCATTCTAATGAACATATTTTTTAACTTCTAAAAGCTTTGTAAAAGCTCTCTGTGGTTCTTTTTAAAAGTCTGCCTGAATA... | CACAGATCTTCTGAGGATCTTGTTAAGATGCAGTTTCAGATTCTGTGGGTCTGGAGTGGGGCCTAGAATTCTGCATTTCCAGCAAGCCCCCAGACAATGTGGATATTCCTTTTCAGGGGACCACAGTCAGGGGGAATGCTGATAGACTATATCTACTGGGCCAAAATAAAAATTAAAATCTTATGCACAAGCTACTAACTCTTCCTTTCTCATTGACAACCACTATTATAATGTCTTAGTCATTCTAATGAACATATTTTTTAACTTCTAAAAGCTTTGTAAAAGCTCTCTGTGGTTCTTTTTAAAAGTCTGCCTGAATA... |
Task1_train_48255 | Chromosome 21 is altered by this variant. Does this mutation result in a disease or is it benign? | Benign | GGAAGAGCCTAAGTCCATCCCCTCTTCTGCCCTCCCAGCCAGGTCAGCCACTCATCATGTGACCTGTGGCTTGTACCCACTTCTACCCCCTGGAAACACCACAACTCATTCCCAGGCCGCCAGAATGCTGCCCATCCCTCACAGAGCACCCTCTGGCACTGCTGTCCCGGGGTTGGGGCTAACGGGACCAGCCAGCCCAGCTGCCTGGAATGGAGCAGGACTTCCCTTGCTCAAGCCAGTGAAGTCCCTGGCAAACTGGAATGAGCCGGTCACCCTGGCTGGGACACTGAGACATTATCTTGGATTCCTAGAACCACGCC... | GGAAGAGCCTAAGTCCATCCCCTCTTCTGCCCTCCCAGCCAGGTCAGCCACTCATCATGTGACCTGTGGCTTGTACCCACTTCTACCCCCTGGAAACACCACAACTCATTCCCAGGCCGCCAGAATGCTGCCCATCCCTCACAGAGCACCCTCTGGCACTGCTGTCCCGGGGTTGGGGCTAACGGGACCAGCCAGCCCAGCTGCCTGGAATGGAGCAGGACTTCCCTTGCTCAAGCCAGTGAAGTCCCTGGCAAACTGGAATGAGCCGGTCACCCTGGCTGGGACACTGAGACATTATCTTGGATTCCTAGAACCACGCC... |
Task1_train_48256 | A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | ACAGGTTACAAGATCTTGGACAAGCTTCCCAACCTCTCTTCCCCAGTTTCCTTACAATTGAGTTAAGTACATTATAAAGGGTTTGCAATGATGCCTGGCTGAAAAAAGTGCCACATCAATGTCTGTGGTTATTATTATAATGCCAGTGCAGCCAAATATACTCCTACAATTAAGGTGACTTGAGTTCAAGATAGAGTGGCCAACGGTGCCAGGCAGGCCAGCACCTAGCAACCTGGGAGGCCCTGCCTGAGGCTCCAGCAACAGCACAAGCTTGTTGTTAGAAGGTTGTCCTTGGCTGGTGGGAATAAGGGAAGCTGCTG... | ACAGGTTACAAGATCTTGGACAAGCTTCCCAACCTCTCTTCCCCAGTTTCCTTACAATTGAGTTAAGTACATTATAAAGGGTTTGCAATGATGCCTGGCTGAAAAAAGTGCCACATCAATGTCTGTGGTTATTATTATAATGCCAGTGCAGCCAAATATACTCCTACAATTAAGGTGACTTGAGTTCAAGATAGAGTGGCCAACGGTGCCAGGCAGGCCAGCACCTAGCAACCTGGGAGGCCCTGCCTGAGGCTCCAGCAACAGCACAAGCTTGTTGTTAGAAGGTTGTCCTTGGCTGGTGGGAATAAGGGAAGCTGCTG... |
Task1_train_48257 | Here is a genetic alteration on Chromosome 21. Based on the data, is it a benign variant or a cause of disease? | Benign | AAAGGCTTCCAGTTAAAGTACAAAACACTTTTCAACCAAGCTATGCAATATCCTAAGTGATCCACCTTAAGTGGAGAAAGCCTCCCTCCAACCAGGCCACCCAAGAAATAAGGGACTGGTCGCTAGAAATAACAGAAGATCCTAAGGATGTGAGCTGGTGAGTCAGTCCAGGTAGGTGCTTGTTTACTTTGCTCTTCCAATATAAGAAAGTGGTGTGAAAATTTTCACTGATGATTAAAGCTCACACACATCCCCAAGAGATAAAACGAATGCCCCTATGGAGAGGGTTCCCTTTCAGAACCTAACCACTGGCTGGTATT... | AAAGGCTTCCAGTTAAAGTACAAAACACTTTTCAACCAAGCTATGCAATATCCTAAGTGATCCACCTTAAGTGGAGAAAGCCTCCCTCCAACCAGGCCACCCAAGAAATAAGGGACTGGTCGCTAGAAATAACAGAAGATCCTAAGGATGTGAGCTGGTGAGTCAGTCCAGGTAGGTGCTTGTTTACTTTGCTCTTCCAATATAAGAAAGTGGTGTGAAAATTTTCACTGATGATTAAAGCTCACACACATCCCCAAGAGATAAAACGAATGCCCCTATGGAGAGGGTTCCCTTTCAGAACCTAACCACTGGCTGGTATT... |
Task1_train_48258 | A sequence alteration has been identified on Chromosome 21. Is it disease-inducing or harmless? | Benign | AGATCACCACAGGCCACACCTTTACAGTGCTGTGGCAACGGATCACCATAGGCCACACCTTTACAGTGCTGTGGCATTGGATTGCCACACTCCCCTCAACCTGGGCCTCCTGAACAGCATAGGTGAGCCTCCCTCCCAGCCAGGCACTAAAGAGCACAGGTGAGCCTCCCTCCCGGGCAGGTGCTAAAGAGCACAGGTGAGCCTCCTTCCCAGGCAGGTACCAACCAATACAAGTGAGCCCCCCTCCCAGGCAGGTGCAAATCAGCACCCATGAGCACCCCCTCCTGGGCAGGTGGCTCCACTAGTCCTGCCGCCCCGTG... | AGATCACCACAGGCCACACCTTTACAGTGCTGTGGCAACGGATCACCATAGGCCACACCTTTACAGTGCTGTGGCATTGGATTGCCACACTCCCCTCAACCTGGGCCTCCTGAACAGCATAGGTGAGCCTCCCTCCCAGCCAGGCACTAAAGAGCACAGGTGAGCCTCCCTCCCGGGCAGGTGCTAAAGAGCACAGGTGAGCCTCCTTCCCAGGCAGGTACCAACCAATACAAGTGAGCCCCCCTCCCAGGCAGGTGCAAATCAGCACCCATGAGCACCCCCTCCTGGGCAGGTGGCTCCACTAGTCCTGCCGCCCCGTG... |
Task1_train_48259 | Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Benign | TTCTGAGCCTGCGTTGCAGGTGGCCAGCCCCAGCCCCCAACACACCTGCCCGACACCCAGTCCCCAAAGGGTGGACCCCTCATCCACCTGGCCCGTGAAGGGAGAGGAGCAGGGTGGGTGACACAGCAAGGATGGAAACCCAGGGAAAGACCTCCCGGAAGGGAAACCAGACAGGGGGAAGGAGGAGGGGCTGTGTGAAGGAACACAGATCTTTACATGAACAGAGTGAGCGAGGCTTGGCATTTCAGAAGGAATGAGGAGGGCGGACGGGGGGTTGGGTTCTGCCAGGACAAGAGGAAACGGGCCATCCAGTCAGGTAA... | TTCTGAGCCTGCGTTGCAGGTGGCCAGCCCCAGCCCCCAACACACCTGCCCGACACCCAGTCCCCAAAGGGTGGACCCCTCATCCACCTGGCCCGTGAAGGGAGAGGAGCAGGGTGGGTGACACAGCAAGGATGGAAACCCAGGGAAAGACCTCCCGGAAGGGAAACCAGACAGGGGGAAGGAGGAGGGGCTGTGTGAAGGAACACAGATCTTTACATGAACAGAGTGAGCGAGGCTTGGCATTTCAGAAGGAATGAGGAGGGCGGACGGGGGGTTGGGTTCTGCCAGGACAAGAGGAAACGGGCCATCCAGTCAGGTAA... |
Task1_train_48260 | 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 | TGAGCACTGGGGACAGAGCAATCTACTTGTCTGGGACAGAGATGAAATCTTTTTTTTCAATTGCTGAGGGTGATGGTTAACTGTATGTGTCGACTTGACTGGGCCATGGGGTGCCCAGATATCTGGTCCAACATGATTCTGGGTGTGACTGACTGTGTTTCTGGATGAGATTAACATTGAACTTGGCACACCCAATGATGCAGATTTTCCTCCCTCTCGTGGGTGGGCCTCATCCAGTCCGTTGGAGGCGCAATGGAACAGAAAGGCTGAGTAAAAGGAAACTCCTTCACTGCTTGAGCCGGGAAAGGGGCCTTTTCCTG... | TGAGCACTGGGGACAGAGCAATCTACTTGTCTGGGACAGAGATGAAATCTTTTTTTTCAATTGCTGAGGGTGATGGTTAACTGTATGTGTCGACTTGACTGGGCCATGGGGTGCCCAGATATCTGGTCCAACATGATTCTGGGTGTGACTGACTGTGTTTCTGGATGAGATTAACATTGAACTTGGCACACCCAATGATGCAGATTTTCCTCCCTCTCGTGGGTGGGCCTCATCCAGTCCGTTGGAGGCGCAATGGAACAGAAAGGCTGAGTAAAAGGAAACTCCTTCACTGCTTGAGCCGGGAAAGGGGCCTTTTCCTG... |
Task1_train_48261 | This is a variant located on Chromosome 21. Is this mutation a likely cause of disease or not? | Benign | CGCTTCTTTGGGGGCTGTGCTGGCCTCGGGTGCCTCTTCTTCAGCCTCCTCCACAGGCTCCTCTTTGACTTGGATTTTCAGTTGCTTGGAAAGACTAAGGTCTTCGGGAAGACAAGAGGAATCTTCCGAGTCGAAGTTAACTTGTTCTGAAGAATCACTGAACACGTTGTCGTCTTTTGTGGTGACGATGTGGTTTACTTTGTTGGGCTCAGGCTGGGATTGGGGCCTTGAAGAACCAGTCACATCACCATTGTGGTCCAAAACGGGCAAAGAAAAGTTTTCGGTGGGTGCCATGTTGTTCTGATTATGGACTTCAACCT... | CGCTTCTTTGGGGGCTGTGCTGGCCTCGGGTGCCTCTTCTTCAGCCTCCTCCACAGGCTCCTCTTTGACTTGGATTTTCAGTTGCTTGGAAAGACTAAGGTCTTCGGGAAGACAAGAGGAATCTTCCGAGTCGAAGTTAACTTGTTCTGAAGAATCACTGAACACGTTGTCGTCTTTTGTGGTGACGATGTGGTTTACTTTGTTGGGCTCAGGCTGGGATTGGGGCCTTGAAGAACCAGTCACATCACCATTGTGGTCCAAAACGGGCAAAGAAAAGTTTTCGGTGGGTGCCATGTTGTTCTGATTATGGACTTCAACCT... |
Task1_train_48262 | A change on Chromosome 21 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Benign | GGTCTTCGGGAAGACAAGAGGAATCTTCCGAGTCGAAGTTAACTTGTTCTGAAGAATCACTGAACACGTTGTCGTCTTTTGTGGTGACGATGTGGTTTACTTTGTTGGGCTCAGGCTGGGATTGGGGCCTTGAAGAACCAGTCACATCACCATTGTGGTCCAAAACGGGCAAAGAAAAGTTTTCGGTGGGTGCCATGTTGTTCTGATTATGGACTTCAACCTGGTGCCGCCAGATGCTGAAAGAGGACTTGAAGGTGCGCATGCACTCGAGGCAGGTCAGCTTCTTATACTCACACTTGCTCTCGTGTTCTTGCTTCAGC... | GGTCTTCGGGAAGACAAGAGGAATCTTCCGAGTCGAAGTTAACTTGTTCTGAAGAATCACTGAACACGTTGTCGTCTTTTGTGGTGACGATGTGGTTTACTTTGTTGGGCTCAGGCTGGGATTGGGGCCTTGAAGAACCAGTCACATCACCATTGTGGTCCAAAACGGGCAAAGAAAAGTTTTCGGTGGGTGCCATGTTGTTCTGATTATGGACTTCAACCTGGTGCCGCCAGATGCTGAAAGAGGACTTGAAGGTGCGCATGCACTCGAGGCAGGTCAGCTTCTTATACTCACACTTGCTCTCGTGTTCTTGCTTCAGC... |
Task1_train_48263 | A genetic alteration is present on Chromosome 21. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Benign | TGACACTCTGATTCTGCCTTCACAGGTCACCAGCGCCCTGCAACCAATGGCCTCCACCGTCCACCACCTGCACTCAGCCCCTGGGAACGCCTCCACCACAGTGTCGCGGCTGCTACTGGGCCTGCCACGGCCACTGCCTGTGGCTGACGTCTCCACCCTGCTGGGTGACATTGCGAAGCGTGTCTATGAAGTGATCAGCGTCCAGGTGCAAGGTTGGGCTTCCCTCAATCCTCCCTCTGGGGAGGCTGCAGGGTGGTGCCTGAACAGCCAAAATGCAAGGTGGACGCTAAAGCCAGACCAGTCCTTTGTCTTTTAAAGGA... | TGACACTCTGATTCTGCCTTCACAGGTCACCAGCGCCCTGCAACCAATGGCCTCCACCGTCCACCACCTGCACTCAGCCCCTGGGAACGCCTCCACCACAGTGTCGCGGCTGCTACTGGGCCTGCCACGGCCACTGCCTGTGGCTGACGTCTCCACCCTGCTGGGTGACATTGCGAAGCGTGTCTATGAAGTGATCAGCGTCCAGGTGCAAGGTTGGGCTTCCCTCAATCCTCCCTCTGGGGAGGCTGCAGGGTGGTGCCTGAACAGCCAAAATGCAAGGTGGACGCTAAAGCCAGACCAGTCCTTTGTCTTTTAAAGGA... |
Task1_train_48264 | A variant was discovered on Chromosome 21. What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Benign | TGTTGTACTCCGCTGGACCCCACCCCCGGCGTGGGAAGTTCATGTTGTACTCAGGCTGACCCCCACCCCCCCCACGAGAGAAGTCCATGTTATACTCAGGCTGACCCCCACTCCTGGCATGTAAAGCTGGTGTTATGCTCAGCTGGACCCCCACCCCCGGTGTGGAAAGCTCATGTTATACTCCACTGGCCCCCACCCCCGGCGTGGAAAGCTGGTGTTATACTCCGCTGGACCCCCACCCCCGGCGTGGAAAGCTGGTGTTATACTCCGCTGGACCCCCACCCCCCATGCGGAAAGTTCACGTTATACTCAGCTGTGTC... | TGTTGTACTCCGCTGGACCCCACCCCCGGCGTGGGAAGTTCATGTTGTACTCAGGCTGACCCCCACCCCCCCCACGAGAGAAGTCCATGTTATACTCAGGCTGACCCCCACTCCTGGCATGTAAAGCTGGTGTTATGCTCAGCTGGACCCCCACCCCCGGTGTGGAAAGCTCATGTTATACTCCACTGGCCCCCACCCCCGGCGTGGAAAGCTGGTGTTATACTCCGCTGGACCCCCACCCCCGGCGTGGAAAGCTGGTGTTATACTCCGCTGGACCCCCACCCCCCATGCGGAAAGTTCACGTTATACTCAGCTGTGTC... |
Task1_train_48265 | This mutation is located on Chromosome 21. Is it associated with a disease or is it a benign polymorphism? | Benign | AGGCCGTAAGGTTGTCATGAGAGTGTTGGACGGATGCCCCAAAATGCCCCTGCTCCCGGCCGTTCACTGCAAAGACGGCTAGGAAGGACTCCTTCCAGCATGGGTCTGTCTTCTGATCACTCTTTGGCTGTTTTCTCATGGGTTTTGATTGTGTCTCCCCCTGGCAGACTGGGACGAGTGTGTGGACAGCGCGGAACACGACTGCTCACCGGCTGCCTGGTGCATCAACCTGGAGGGCTCCTACACCTGCCAGTGCCGTACCACCAGGGACGCCACCCCCTCCCGCGCAGGCCGGGCCTGTGAGGGTACGTGTCGACCCC... | AGGCCGTAAGGTTGTCATGAGAGTGTTGGACGGATGCCCCAAAATGCCCCTGCTCCCGGCCGTTCACTGCAAAGACGGCTAGGAAGGACTCCTTCCAGCATGGGTCTGTCTTCTGATCACTCTTTGGCTGTTTTCTCATGGGTTTTGATTGTGTCTCCCCCTGGCAGACTGGGACGAGTGTGTGGACAGCGCGGAACACGACTGCTCACCGGCTGCCTGGTGCATCAACCTGGAGGGCTCCTACACCTGCCAGTGCCGTACCACCAGGGACGCCACCCCCTCCCGCGCAGGCCGGGCCTGTGAGGGTACGTGTCGACCCC... |
Task1_train_48266 | A genomic variant on Chromosome 21 is under review. What is the biological outcome — benign or pathogenic? | Benign | TAGGAAGGACTCCTTCCAGCATGGGTCTGTCTTCTGATCACTCTTTGGCTGTTTTCTCATGGGTTTTGATTGTGTCTCCCCCTGGCAGACTGGGACGAGTGTGTGGACAGCGCGGAACACGACTGCTCACCGGCTGCCTGGTGCATCAACCTGGAGGGCTCCTACACCTGCCAGTGCCGTACCACCAGGGACGCCACCCCCTCCCGCGCAGGCCGGGCCTGTGAGGGTACGTGTCGACCCCCCTGCCGACTCTGGGAAGACCCCCTGCCCGAGAATCTGGGGGTGGGGCAAAGCCCAATTCTCCATAGGCACAGGGCTGA... | TAGGAAGGACTCCTTCCAGCATGGGTCTGTCTTCTGATCACTCTTTGGCTGTTTTCTCATGGGTTTTGATTGTGTCTCCCCCTGGCAGACTGGGACGAGTGTGTGGACAGCGCGGAACACGACTGCTCACCGGCTGCCTGGTGCATCAACCTGGAGGGCTCCTACACCTGCCAGTGCCGTACCACCAGGGACGCCACCCCCTCCCGCGCAGGCCGGGCCTGTGAGGGTACGTGTCGACCCCCCTGCCGACTCTGGGAAGACCCCCTGCCCGAGAATCTGGGGGTGGGGCAAAGCCCAATTCTCCATAGGCACAGGGCTGA... |
Task1_train_48267 | This variant is found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Benign | ACCAGCCAGGCGAGCCCCAGCCAGAGGAGCACCAGCCAGGGGAGCCCCAGCCAGGTGAACCCCAGCCAGCGGAGCACCAGCCACGCGAACTCCAGCCAGGGGAGCCCCAGCCAGGGGAGCCCCAGCCAGGAGAGCCCCAGCCAGGGGAGCACCAGCCAGGCGAGCCCCAGCCATAGGAACACTATCGGGGTGATAGGCACCACCTCCTCCCCGAAGGCTACTGGGTCAACCCACAGCTTCCCTCCTGGGGCCACAGATGGCCCACTGGCCCTCCCTGGACAGCTACAGGGAAACTCCATCATGGAGCCACCCTCCTGGCC... | ACCAGCCAGGCGAGCCCCAGCCAGAGGAGCACCAGCCAGGGGAGCCCCAGCCAGGTGAACCCCAGCCAGCGGAGCACCAGCCACGCGAACTCCAGCCAGGGGAGCCCCAGCCAGGGGAGCCCCAGCCAGGAGAGCCCCAGCCAGGGGAGCACCAGCCAGGCGAGCCCCAGCCATAGGAACACTATCGGGGTGATAGGCACCACCTCCTCCCCGAAGGCTACTGGGTCAACCCACAGCTTCCCTCCTGGGGCCACAGATGGCCCACTGGCCCTCCCTGGACAGCTACAGGGAAACTCCATCATGGAGCCACCCTCCTGGCC... |
Task1_train_48268 | This variant is found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Benign | TTATCTGCTTTTTGTCTCTATAGATTTGCCCATTGTGGACATTTCACAGAAACAGAATCATACAATATGTGACTTTTTGTGTCTGGCTTCTTTCAGTTAAAATGAGGTTTTCTGGTTTCATCCACGTGGCAGCATGTGTCAGCACTGGATTCCTTGTTATGGCTGGGGCATAACCCATGCAGTCTCATCCATTCATTCACCGAGCGCACTGGGCGGCTCCCGCCTTCTGTCTGTTATAAATAGTGCTGCAATGCCCCTGCCTCAGAGAAAGTTCTTTTCCTGCTCTTTCCTGCATTCCTCCCTGCCATCCCCTCAGCATT... | TTATCTGCTTTTTGTCTCTATAGATTTGCCCATTGTGGACATTTCACAGAAACAGAATCATACAATATGTGACTTTTTGTGTCTGGCTTCTTTCAGTTAAAATGAGGTTTTCTGGTTTCATCCACGTGGCAGCATGTGTCAGCACTGGATTCCTTGTTATGGCTGGGGCATAACCCATGCAGTCTCATCCATTCATTCACCGAGCGCACTGGGCGGCTCCCGCCTTCTGTCTGTTATAAATAGTGCTGCAATGCCCCTGCCTCAGAGAAAGTTCTTTTCCTGCTCTTTCCTGCATTCCTCCCTGCCATCCCCTCAGCATT... |
Task1_train_48269 | A sequence alteration has been identified on Chromosome 21. Is it disease-inducing or harmless? | Benign | CCCGTGCCGGCTCTGGGTTGGGGAAGTGGCCTTCTGGGAAGGGGCTCGACCTAGAAAGGAGGCCAGCGTCGTTCCAAGGGTGAGTGAGAGAGCTGTGAATGTATCCAAGGGCCATGCCGGGGGTGGCTAGATGAGGGAGGCTGGAAACCATGGCGGAGTTAAGAGTCTGTCCGAGTGGTTCTGGTCAGGTGGGCAGGGATGGAAGGGTGGACACTCATGGGCAGGGTGGGGTATGAGGCCTGGTGGGAAAGTGGGGCTGTGGATGGGGCTGAGCAGGGAGCAGTGCCTGGCCTAGGAGCCAGGGCCAGAAGGCTCTCCTA... | CCCGTGCCGGCTCTGGGTTGGGGAAGTGGCCTTCTGGGAAGGGGCTCGACCTAGAAAGGAGGCCAGCGTCGTTCCAAGGGTGAGTGAGAGAGCTGTGAATGTATCCAAGGGCCATGCCGGGGGTGGCTAGATGAGGGAGGCTGGAAACCATGGCGGAGTTAAGAGTCTGTCCGAGTGGTTCTGGTCAGGTGGGCAGGGATGGAAGGGTGGACACTCATGGGCAGGGTGGGGTATGAGGCCTGGTGGGAAAGTGGGGCTGTGGATGGGGCTGAGCAGGGAGCAGTGCCTGGCCTAGGAGCCAGGGCCAGAAGGCTCTCCTA... |
Task1_train_48270 | A genomic change on Chromosome 21 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant. | Benign | AGAGGTGCATGTGGGCCGGGCCACAGCGGCATCCTCAAGCCTATGCAGGGCTCTTGCAGGGCTGCGGGGCCAAGTGGAGGGGCTGAGGGTGCAGGACAGCCTGCCTGGTGCTCAGATCGCCACCCACACAGCGGCAGCTCCAGTGGAGAGACAGCGCCTCCCAGGACTGGGGCCCTGGGCAGAGCCTGCAGCCGGCAGCTCCCTCTGTGTTTTTCTGAACCAGACCAATGCTTGGCTTGATTATTAAATGCAGCAGGGTTTGGGGCATGTTGAAAGAAAAGGGAATTTGTCTCTGATGACTCACCCAGTCCCTGAAATCC... | AGAGGTGCATGTGGGCCGGGCCACAGCGGCATCCTCAAGCCTATGCAGGGCTCTTGCAGGGCTGCGGGGCCAAGTGGAGGGGCTGAGGGTGCAGGACAGCCTGCCTGGTGCTCAGATCGCCACCCACACAGCGGCAGCTCCAGTGGAGAGACAGCGCCTCCCAGGACTGGGGCCCTGGGCAGAGCCTGCAGCCGGCAGCTCCCTCTGTGTTTTTCTGAACCAGACCAATGCTTGGCTTGATTATTAAATGCAGCAGGGTTTGGGGCATGTTGAAAGAAAAGGGAATTTGTCTCTGATGACTCACCCAGTCCCTGAAATCC... |
Task1_train_48271 | A mutation located on Chromosome 21 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Benign | GTCTTTCTACTCTGCATCCTCAGGGCGGCACCCCCCCTTGTGCTGGCAAGGTGGCCCGTCACTCGAGGCCCAGGAGGAAGGTCCACTACAGAGCCCCTGGGGGCTGGATTTAGTGTCCATCGTGATTTAGGAGTTGTCTGGGGAAGTGGCCGGCCGGGATCTGGGGGCCTCGGTTTCTTGGGGAGGGTGGAGTCACTTTGGCTGGAGGGTGGGAGGTGTTCCCTGTCCCTCTCTCTGGAGGAGGGATGGTGTGGTTCTAGCTGGCTTATGTTCAGCACCCCAGGGATCCGACAGTGCCATTGTTGGATGGCTTTGCTGAT... | GTCTTTCTACTCTGCATCCTCAGGGCGGCACCCCCCCTTGTGCTGGCAAGGTGGCCCGTCACTCGAGGCCCAGGAGGAAGGTCCACTACAGAGCCCCTGGGGGCTGGATTTAGTGTCCATCGTGATTTAGGAGTTGTCTGGGGAAGTGGCCGGCCGGGATCTGGGGGCCTCGGTTTCTTGGGGAGGGTGGAGTCACTTTGGCTGGAGGGTGGGAGGTGTTCCCTGTCCCTCTCTCTGGAGGAGGGATGGTGTGGTTCTAGCTGGCTTATGTTCAGCACCCCAGGGATCCGACAGTGCCATTGTTGGATGGCTTTGCTGAT... |
Task1_train_48272 | Located on Chromosome 21, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | ATACTGTCTTCATTTTATGAGCAGTTCTTGCCCCCTGTGACTTAGAATCCCTCACGTGTGTTTTGAGATCCATTTTGATGTTATTAAGCCCAACTTCCCAGACCTTCTTCCTGTTCTTCTTGTTGGCACAAAAGCCCCCTTCCTGTTTCAGAAGGTGCAAAAAGCAAGAGGATTGATCAGCGCGTGGCTTTGCCACATGATCACGAAAATGGAGGCGGTCGATGAGAAGGCCCTTAGGCATTAGGGGGAAGAAACAAGTAGAGTAAAAAGGAAATGTCACTGGATGTCATAGAATATGGATTTCTGTCCTTTCTGCCTTG... | ATACTGTCTTCATTTTATGAGCAGTTCTTGCCCCCTGTGACTTAGAATCCCTCACGTGTGTTTTGAGATCCATTTTGATGTTATTAAGCCCAACTTCCCAGACCTTCTTCCTGTTCTTCTTGTTGGCACAAAAGCCCCCTTCCTGTTTCAGAAGGTGCAAAAAGCAAGAGGATTGATCAGCGCGTGGCTTTGCCACATGATCACGAAAATGGAGGCGGTCGATGAGAAGGCCCTTAGGCATTAGGGGGAAGAAACAAGTAGAGTAAAAAGGAAATGTCACTGGATGTCATAGAATATGGATTTCTGTCCTTTCTGCCTTG... |
Task1_train_48273 | Consider a variant on Chromosome 21. Determine its clinical classification and disease relevance. | Benign | TGTTTCTGGGCATTACGTGTCCATGTGATGGATGCAGTAATGACTCTGCCAGGTAGAGCCTGCAGCTGGTCTCAGGTCAGGATTCTGCTTCAATAAGAGGGAATTAACCTATTTATTATGCTTTCCCTGCTTTCTTAAGAAGGAAAGAGGGCTTTAATTTAATTGGGAGTAGTCTCCTAGTACTTTGTTTGCATCTACGAGATGTTTGAAAGTTTTATCAGGTGTGGCTCTTCTGGCATTTTCGTAATGTCCAGAGGGCAGGGCTTGACTTTTTCAAGAAACAGGGTCTTTAGGAGCTGCTGGTTGGGAGAGAACTTTTC... | TGTTTCTGGGCATTACGTGTCCATGTGATGGATGCAGTAATGACTCTGCCAGGTAGAGCCTGCAGCTGGTCTCAGGTCAGGATTCTGCTTCAATAAGAGGGAATTAACCTATTTATTATGCTTTCCCTGCTTTCTTAAGAAGGAAAGAGGGCTTTAATTTAATTGGGAGTAGTCTCCTAGTACTTTGTTTGCATCTACGAGATGTTTGAAAGTTTTATCAGGTGTGGCTCTTCTGGCATTTTCGTAATGTCCAGAGGGCAGGGCTTGACTTTTTCAAGAAACAGGGTCTTTAGGAGCTGCTGGTTGGGAGAGAACTTTTC... |
Task1_train_48274 | Given a variant located on Chromosome 21, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Benign | GCCCCAGTGCAGGTGGCGGGGCTTGTGCCAGGCAAGGGGACCCCAGTGCTGCAACTGGAGCCCCATGAACTGTCCAAGTCTCAAAATGGTAACAATGACAGCCACAACCACACACTCGCCCAGTGTGCTCTTGCCCACCAAGCCCTTCCACACTCACAGCGTCAGCGGAACTTCAGTTCCCCTCCAAGTACGTGCTATTATCATCCCTCTTTTCTAAGAAAGGAAACTGAGGCATGAACTGTGTGTGGAACTTGCCTGAGTCTACACTGGGATTTGAACCCAAGCAATCTAGCTTGACCGTCCTTTGGTTATTTATTTAT... | GCCCCAGTGCAGGTGGCGGGGCTTGTGCCAGGCAAGGGGACCCCAGTGCTGCAACTGGAGCCCCATGAACTGTCCAAGTCTCAAAATGGTAACAATGACAGCCACAACCACACACTCGCCCAGTGTGCTCTTGCCCACCAAGCCCTTCCACACTCACAGCGTCAGCGGAACTTCAGTTCCCCTCCAAGTACGTGCTATTATCATCCCTCTTTTCTAAGAAAGGAAACTGAGGCATGAACTGTGTGTGGAACTTGCCTGAGTCTACACTGGGATTTGAACCCAAGCAATCTAGCTTGACCGTCCTTTGGTTATTTATTTAT... |
Task1_train_48275 | 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 | AACAAGTGTTTTGGATGATTGTGTCTTCACTAAATTTCTGACTTTCAACAATTGGTTCTGTGGGGTTCTTGGGGAAGCGTGCATGGACATTGATGTGACCGCCAGGACCAAGCAGGAAAGTGTCCAGGAAGCTACTCTAGGAGCTGCAAGCTGAGGAGCTGGAGGGTTTTTTGGTTTTGTTTTTGTTTTCTACTTTGAAACTTTTTATTGCATGTTCGTATCTCCGATCCTGGCCTGGCCCTGGGAACCCCCAAACATGCCACTTCCCATGTGCCTTGAGCAAGTCACTTAGCCTGTCTGGCCTTGGTTTGCTTGCCTGT... | AACAAGTGTTTTGGATGATTGTGTCTTCACTAAATTTCTGACTTTCAACAATTGGTTCTGTGGGGTTCTTGGGGAAGCGTGCATGGACATTGATGTGACCGCCAGGACCAAGCAGGAAAGTGTCCAGGAAGCTACTCTAGGAGCTGCAAGCTGAGGAGCTGGAGGGTTTTTTGGTTTTGTTTTTGTTTTCTACTTTGAAACTTTTTATTGCATGTTCGTATCTCCGATCCTGGCCTGGCCCTGGGAACCCCCAAACATGCCACTTCCCATGTGCCTTGAGCAAGTCACTTAGCCTGTCTGGCCTTGGTTTGCTTGCCTGT... |
Task1_train_48276 | A mutation is present on Chromosome 21. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Benign | CTAAATATGAAGAGCAAAAGTAGCAAAACTTCTAGAACAAAACATAGATGATCTTCATCGATGTTGGATTAACAACAATCTCTTGAACAGGATGCAGAAAACTCTAACCAGAGTTCCCACAAATTGATAAGAAAAGCAAACACCCTAGTGAAAAAAAAAAAAGAGCAGAATATCTGAACAGGAACTTCCCCAGAGAGGATATTCAAATGGGCAATAAGCCTGTGAAATGGTGCCCAATATCATTATCCCTCAGGGAAATACAAATGGGAACCACAGGGAGATACAACTACACACCACCCCCACCACAGAGTGGCTAAAAT... | CTAAATATGAAGAGCAAAAGTAGCAAAACTTCTAGAACAAAACATAGATGATCTTCATCGATGTTGGATTAACAACAATCTCTTGAACAGGATGCAGAAAACTCTAACCAGAGTTCCCACAAATTGATAAGAAAAGCAAACACCCTAGTGAAAAAAAAAAAAGAGCAGAATATCTGAACAGGAACTTCCCCAGAGAGGATATTCAAATGGGCAATAAGCCTGTGAAATGGTGCCCAATATCATTATCCCTCAGGGAAATACAAATGGGAACCACAGGGAGATACAACTACACACCACCCCCACCACAGAGTGGCTAAAAT... |
Task1_train_48277 | Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Benign | TCTAGAACAAAACATAGATGATCTTCATCGATGTTGGATTAACAACAATCTCTTGAACAGGATGCAGAAAACTCTAACCAGAGTTCCCACAAATTGATAAGAAAAGCAAACACCCTAGTGAAAAAAAAAAAAGAGCAGAATATCTGAACAGGAACTTCCCCAGAGAGGATATTCAAATGGGCAATAAGCCTGTGAAATGGTGCCCAATATCATTATCCCTCAGGGAAATACAAATGGGAACCACAGGGAGATACAACTACACACCACCCCCACCACAGAGTGGCTAAAATTAGGGACTGATAATATTAAGTGTGCATGAG... | TCTAGAACAAAACATAGATGATCTTCATCGATGTTGGATTAACAACAATCTCTTGAACAGGATGCAGAAAACTCTAACCAGAGTTCCCACAAATTGATAAGAAAAGCAAACACCCTAGTGAAAAAAAAAAAAGAGCAGAATATCTGAACAGGAACTTCCCCAGAGAGGATATTCAAATGGGCAATAAGCCTGTGAAATGGTGCCCAATATCATTATCCCTCAGGGAAATACAAATGGGAACCACAGGGAGATACAACTACACACCACCCCCACCACAGAGTGGCTAAAATTAGGGACTGATAATATTAAGTGTGCATGAG... |
Task1_train_48278 | Here’s a variant located on Chromosome 21. What is the predicted biological effect — harmless or disease-causing? | Benign | CTTAAAGCAACAATAAGACAATAGGTGGCTATCAGGATGCATTAACAAACATATAAGAAACTTTTTTTCAATAAAACAGTTTTTTTAGCTATTGAATTACTGAAGCTATAGATTGAACTGACACACCTTGTCCATGGTGGGGAGAACCAATACAAAACAATCAACACCAAAAATAGTTATTGAACTTCATAGAAAAAGAAAAAATATTTGGTCATCTGGACAAAAGATCAAGTCACTTATAAGGGAAAATATTTTAAAGGCACTGGAAATCCCCATCTGAAAGGAAACTCCTGGTGGATCTTTTCCCAAGGTAGAGAGGC... | CTTAAAGCAACAATAAGACAATAGGTGGCTATCAGGATGCATTAACAAACATATAAGAAACTTTTTTTCAATAAAACAGTTTTTTTAGCTATTGAATTACTGAAGCTATAGATTGAACTGACACACCTTGTCCATGGTGGGGAGAACCAATACAAAACAATCAACACCAAAAATAGTTATTGAACTTCATAGAAAAAGAAAAAATATTTGGTCATCTGGACAAAAGATCAAGTCACTTATAAGGGAAAATATTTTAAAGGCACTGGAAATCCCCATCTGAAAGGAAACTCCTGGTGGATCTTTTCCCAAGGTAGAGAGGC... |
Task1_train_48279 | A variant has been detected on Chromosome 21. What is its effect — pathogenic or benign? If pathogenic, name the disease. | Benign | GTACTGGGCATCGTCCACTCGGCCCCATCTCTCCCAGTCCGGTTTTCAGGATTCCTCCTGCTCCATCCCCTCCGTTATCTCCCCCACCAAGTTTCTGGGGCCTCCTGCCTTGCCTGGCTCCAGGGCACCCATCCTCATTGCCCCAGAGAAGCTCAGAGAGCAAGCCTGATACAGGCAATCCCCACAGCTCCCAGAGGTCCCGCCTACTGGGCTCAGGATCAAGTTCAAAGGCCATCTGGTTCCAAGGGAAAGGGGCCACCTCCCCACCCCCACACTCTTCTGCTGTCAGACTCTGCTCTCTGCCTGGAATTTCCTTCCTG... | GTACTGGGCATCGTCCACTCGGCCCCATCTCTCCCAGTCCGGTTTTCAGGATTCCTCCTGCTCCATCCCCTCCGTTATCTCCCCCACCAAGTTTCTGGGGCCTCCTGCCTTGCCTGGCTCCAGGGCACCCATCCTCATTGCCCCAGAGAAGCTCAGAGAGCAAGCCTGATACAGGCAATCCCCACAGCTCCCAGAGGTCCCGCCTACTGGGCTCAGGATCAAGTTCAAAGGCCATCTGGTTCCAAGGGAAAGGGGCCACCTCCCCACCCCCACACTCTTCTGCTGTCAGACTCTGCTCTCTGCCTGGAATTTCCTTCCTG... |
Task1_train_48280 | This genomic variant is located on Chromosome 21. Can you determine its pathogenicity and name any linked disease? | Benign | CCGTTGTCATTTCAATAGATCACCTTGATGCCAAAAAGGCGGGGGAGCTCTCCACCCTGTTTGACGTGGGCGGAATCTTTGGTGAGTTCATTAAGACTTGTTCTGCTGCAACAATAATTTCGCAAGGCGCATGATCTCTGAGTTGATTCACTGCTCAGGGGAACAGGGTTCCCCAAGGTCTCATATCCCCTGAGTGGGCCCAGCCCAAGAGGGTCAGGCCGTCACCTGGGGGTGGTTTTATTGTCTCCCGTCCCTCCCCAGGGCCCTGACTCTGCACTTGAACAGCTTCCCTCAGAAATAGCATGCCAGCTGGACTCAGG... | CCGTTGTCATTTCAATAGATCACCTTGATGCCAAAAAGGCGGGGGAGCTCTCCACCCTGTTTGACGTGGGCGGAATCTTTGGTGAGTTCATTAAGACTTGTTCTGCTGCAACAATAATTTCGCAAGGCGCATGATCTCTGAGTTGATTCACTGCTCAGGGGAACAGGGTTCCCCAAGGTCTCATATCCCCTGAGTGGGCCCAGCCCAAGAGGGTCAGGCCGTCACCTGGGGGTGGTTTTATTGTCTCCCGTCCCTCCCCAGGGCCCTGACTCTGCACTTGAACAGCTTCCCTCAGAAATAGCATGCCAGCTGGACTCAGG... |
Task1_train_48281 | This variant lies on Chromosome 21. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Benign | CATTCATGACAAAAGTGGCCTCCATTACTGTTAGTAAAACTGCATTTGCAGAAGCACGTTTTTGGCAGCTCACCTACACCTGTGGTCTCCAGCCTTCCCGCACCTGCCCCGCTGCTCACCCTTCTCCTAAAATCATGGGCAGGTTGGTGCAAAACTCACCGTTCAGCACAACAAAAGGCTCTTGGGCGCCATCCTCATGACTCAGGCGCCTTTTCAATCCAAGGGGGCAGGGGAGAGGTCCTGTCCTGGACGCCTCTGCAGAGAGAGAGGGGCCACGAAGAGGCGCTGGGGGATTCGGCCCTTCTCATCCAGGTACCATG... | CATTCATGACAAAAGTGGCCTCCATTACTGTTAGTAAAACTGCATTTGCAGAAGCACGTTTTTGGCAGCTCACCTACACCTGTGGTCTCCAGCCTTCCCGCACCTGCCCCGCTGCTCACCCTTCTCCTAAAATCATGGGCAGGTTGGTGCAAAACTCACCGTTCAGCACAACAAAAGGCTCTTGGGCGCCATCCTCATGACTCAGGCGCCTTTTCAATCCAAGGGGGCAGGGGAGAGGTCCTGTCCTGGACGCCTCTGCAGAGAGAGAGGGGCCACGAAGAGGCGCTGGGGGATTCGGCCCTTCTCATCCAGGTACCATG... |
Task1_train_48282 | Chromosome 21 is altered by this variant. Does this mutation result in a disease or is it benign? | Benign | TCCTAAAATCATGGGCAGGTTGGTGCAAAACTCACCGTTCAGCACAACAAAAGGCTCTTGGGCGCCATCCTCATGACTCAGGCGCCTTTTCAATCCAAGGGGGCAGGGGAGAGGTCCTGTCCTGGACGCCTCTGCAGAGAGAGAGGGGCCACGAAGAGGCGCTGGGGGATTCGGCCCTTCTCATCCAGGTACCATGCCCTGCCTTGGTCACCTTTGTATTGGACGTGTCCTGAAACTGCCTGAGTGTGCGTGAGCATGCAGACTTGTGTCTACATGGGCATGGAAAATTCTGGAAGGATCCACATCAGACCATTAGCAAT... | TCCTAAAATCATGGGCAGGTTGGTGCAAAACTCACCGTTCAGCACAACAAAAGGCTCTTGGGCGCCATCCTCATGACTCAGGCGCCTTTTCAATCCAAGGGGGCAGGGGAGAGGTCCTGTCCTGGACGCCTCTGCAGAGAGAGAGGGGCCACGAAGAGGCGCTGGGGGATTCGGCCCTTCTCATCCAGGTACCATGCCCTGCCTTGGTCACCTTTGTATTGGACGTGTCCTGAAACTGCCTGAGTGTGCGTGAGCATGCAGACTTGTGTCTACATGGGCATGGAAAATTCTGGAAGGATCCACATCAGACCATTAGCAAT... |
Task1_train_48283 | A change on Chromosome 21 is being evaluated. Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Benign | TAGCAATGGTCAGCCTTCACGGGGTAGAGGCAGAGGAGAGACTTTCACTTATTTTTTAGACTTCAAAATACGTAGGTTCTGGATGATTTTCATATTGTGTGTTCTTTATTTTATATACATATTACGTGCATATACAAGCATTTATTTTTTTGAACGCTGGTTCATTTTTATAGTTTTAGGCTTCTAGGCACTGTTTCCCCTGATCTTTTTCCCCTCCTATTGTCCTCATTTTGGCTTTTTTCCCATTGTCTATGCAACATTTTCAAAACCAGAGCTCCTGGCGGCTGCTCACCGAGGACCTGCGCCAGCCTTGGTTTCTC... | TAGCAATGGTCAGCCTTCACGGGGTAGAGGCAGAGGAGAGACTTTCACTTATTTTTTAGACTTCAAAATACGTAGGTTCTGGATGATTTTCATATTGTGTGTTCTTTATTTTATATACATATTACGTGCATATACAAGCATTTATTTTTTTGAACGCTGGTTCATTTTTATAGTTTTAGGCTTCTAGGCACTGTTTCCCCTGATCTTTTTCCCCTCCTATTGTCCTCATTTTGGCTTTTTTCCCATTGTCTATGCAACATTTTCAAAACCAGAGCTCCTGGCGGCTGCTCACCGAGGACCTGCGCCAGCCTTGGTTTCTC... |
Task1_train_48284 | A variant on Chromosome 21 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Benign | AATGGTCAGCCTTCACGGGGTAGAGGCAGAGGAGAGACTTTCACTTATTTTTTAGACTTCAAAATACGTAGGTTCTGGATGATTTTCATATTGTGTGTTCTTTATTTTATATACATATTACGTGCATATACAAGCATTTATTTTTTTGAACGCTGGTTCATTTTTATAGTTTTAGGCTTCTAGGCACTGTTTCCCCTGATCTTTTTCCCCTCCTATTGTCCTCATTTTGGCTTTTTTCCCATTGTCTATGCAACATTTTCAAAACCAGAGCTCCTGGCGGCTGCTCACCGAGGACCTGCGCCAGCCTTGGTTTCTCAGCT... | AATGGTCAGCCTTCACGGGGTAGAGGCAGAGGAGAGACTTTCACTTATTTTTTAGACTTCAAAATACGTAGGTTCTGGATGATTTTCATATTGTGTGTTCTTTATTTTATATACATATTACGTGCATATACAAGCATTTATTTTTTTGAACGCTGGTTCATTTTTATAGTTTTAGGCTTCTAGGCACTGTTTCCCCTGATCTTTTTCCCCTCCTATTGTCCTCATTTTGGCTTTTTTCCCATTGTCTATGCAACATTTTCAAAACCAGAGCTCCTGGCGGCTGCTCACCGAGGACCTGCGCCAGCCTTGGTTTCTCAGCT... |
Task1_train_48285 | Located on Chromosome 21, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | GCTTTTTCCCATGCATCTACCAAAACAGGCCATCCTACATGTGTATCAGAATTCATTTCAGTCCCTCTTGGTAAAATGCACCAGATGCTACAAAACACATTCTTAAACAGCAGTCCTTGGGCATTTAGGGGGATACGTTATTTGTTTTCATCATTTAAAAACACATCTTGACATAATTTCAGACTTTGAGAAAGTTGCAGAAATAGTACAAAGAATTCAGACATTTTAGTACATGTGGTTCATCATGCACCCGTGTTTTTACACACACACATGCACACACACATATATGCACACACACATGCATAATTTTTCTGAACCAC... | GCTTTTTCCCATGCATCTACCAAAACAGGCCATCCTACATGTGTATCAGAATTCATTTCAGTCCCTCTTGGTAAAATGCACCAGATGCTACAAAACACATTCTTAAACAGCAGTCCTTGGGCATTTAGGGGGATACGTTATTTGTTTTCATCATTTAAAAACACATCTTGACATAATTTCAGACTTTGAGAAAGTTGCAGAAATAGTACAAAGAATTCAGACATTTTAGTACATGTGGTTCATCATGCACCCGTGTTTTTACACACACACATGCACACACACATATATGCACACACACATGCATAATTTTTCTGAACCAC... |
Task1_train_48286 | This variant is found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Benign | ATGGATGGATGGGTGGATGGGTGGATGGACAAATGGATGGAAGGGTGGATGGATGGATGGGTGGATGGGTGGATGAATGGACAGATGGATAAATGGGTGGAAGGATGGATGGATAAATGGATGGAAGGGCAGATGGATGGGTGGATGGGTAGATGGATGGAGGATGAATGGGTGGATGGATGGATGAATGGATGGGTTTTTGGGTGGGCAGATGGATGTGTGGACAAATGGATGGGTGATGGATGCACATATGAATCGGAATAAGAGATACATGAAATAATGTGTGCAGGGGGCTCAGTACACAGTAGGCCTCCGCTGAA... | ATGGATGGATGGGTGGATGGGTGGATGGACAAATGGATGGAAGGGTGGATGGATGGATGGGTGGATGGGTGGATGAATGGACAGATGGATAAATGGGTGGAAGGATGGATGGATAAATGGATGGAAGGGCAGATGGATGGGTGGATGGGTAGATGGATGGAGGATGAATGGGTGGATGGATGGATGAATGGATGGGTTTTTGGGTGGGCAGATGGATGTGTGGACAAATGGATGGGTGATGGATGCACATATGAATCGGAATAAGAGATACATGAAATAATGTGTGCAGGGGGCTCAGTACACAGTAGGCCTCCGCTGAA... |
Task1_train_48287 | Given a variant located on Chromosome 21, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Benign | TTAAAAGGAAAACAAGGCACTTATGAAAAATTTGAAGCATTCCAGCTTTTGATACACAAAAGGATTCTGAGTACCCAGCGATACCCCACATCATAGTCATCGCCAGCATGAACCTGTTCCTGTGTGGAGACTTCATCACTGGACAGCAGGTAGGAGCCGGCCTGAACGAATTAAGTGATGTACCCAGAAGCCTGCCCATTGCAGAAGCCTCTTCCCAAATCACGCGGCGCACACCTCACTCACATGCAGCGCACGGTCACGCAGTGCGCACCTCACACACACACAGCGCACGATCACGTGGCCTGCACCTCACTCACACA... | TTAAAAGGAAAACAAGGCACTTATGAAAAATTTGAAGCATTCCAGCTTTTGATACACAAAAGGATTCTGAGTACCCAGCGATACCCCACATCATAGTCATCGCCAGCATGAACCTGTTCCTGTGTGGAGACTTCATCACTGGACAGCAGGTAGGAGCCGGCCTGAACGAATTAAGTGATGTACCCAGAAGCCTGCCCATTGCAGAAGCCTCTTCCCAAATCACGCGGCGCACACCTCACTCACATGCAGCGCACGGTCACGCAGTGCGCACCTCACACACACACAGCGCACGATCACGTGGCCTGCACCTCACTCACACA... |
Task1_train_48288 | Here is a genetic alteration on Chromosome 21. Based on the data, is it a benign variant or a cause of disease? | Benign | GGCTGCTCTCCTTCCTGCAGCCGCAGCCACGGGAGTTGCTGGCTAGATTCCCTCCCCTCAGCTGAGTGTTCCTGTCAGGACAGTGACCATCCTGCCCCTGCTCAGCCTCCTGAAGACCCCCGGGGCCTCTGGCTAGACCCCCACTAAACCTCCCAGTGAGGCCCTGCACTTACTGACGCCCACTGCAGTGGGATCAATTCCCTCAACACCATGGACCAGGCATGAGGCAGCACAGCACCAGCTCCCTCTGGGAGCCACCAGCTGCCAGCCCTGCCCTGGGGACCTTCAACGCCCAACTCTGAAGGCAGGTGCTCAGACCC... | GGCTGCTCTCCTTCCTGCAGCCGCAGCCACGGGAGTTGCTGGCTAGATTCCCTCCCCTCAGCTGAGTGTTCCTGTCAGGACAGTGACCATCCTGCCCCTGCTCAGCCTCCTGAAGACCCCCGGGGCCTCTGGCTAGACCCCCACTAAACCTCCCAGTGAGGCCCTGCACTTACTGACGCCCACTGCAGTGGGATCAATTCCCTCAACACCATGGACCAGGCATGAGGCAGCACAGCACCAGCTCCCTCTGGGAGCCACCAGCTGCCAGCCCTGCCCTGGGGACCTTCAACGCCCAACTCTGAAGGCAGGTGCTCAGACCC... |
Task1_train_48289 | This mutation on Chromosome 21 may be significant. Is it associated with any clinical condition, or is it benign? | Benign | ATGACGCGATCCACAGCAGTCAGGTGGAAGCAGCCATTTATTATCAGTTATAACTCAGACATGTAGGGACATGCATTTAAAAGTCATTTTCCTACTGGGAAACCATCACTGCCTATGGGAAAGGAGCCAGAAGGTGGGTAAGAAGGGAGACTGACGCATACTCTTTGGTTTAATTTTGTTGTGTTTTAAGTTTTTAAACCATGTGCATCTATTACCTACCTGATACACAAAGACACAAAAACATATTGTAAATCACATATACATAAAAACATATATAGTAAAACCCGTATACACAAAAACACATAGAGTAGAAATGATGC... | ATGACGCGATCCACAGCAGTCAGGTGGAAGCAGCCATTTATTATCAGTTATAACTCAGACATGTAGGGACATGCATTTAAAAGTCATTTTCCTACTGGGAAACCATCACTGCCTATGGGAAAGGAGCCAGAAGGTGGGTAAGAAGGGAGACTGACGCATACTCTTTGGTTTAATTTTGTTGTGTTTTAAGTTTTTAAACCATGTGCATCTATTACCTACCTGATACACAAAGACACAAAAACATATTGTAAATCACATATACATAAAAACATATATAGTAAAACCCGTATACACAAAAACACATAGAGTAGAAATGATGC... |
Task1_train_48290 | A mutation on Chromosome 21 has been found. Is it harmful or harmless? What disease, if any, does it cause? | Benign | TCAAAAGAAGAATTAGATAAATAAATAAATAAAATAAGTAAAAATAAAAAAAAACTTTTTATAGTGAAACACTTGTAGAGGTTTCCATTACCATATAAAATTTGAGTAACTTTATTCTCTAATGTAATGTTTAAATGCACCTCTGTTTCTGAATGTGCCTTGTTTCCAAAGTTAGTTTTGTGATATTTTGACAAGATGTGCAAGTATTTTAAGGTTGCTAATCTATGTTTCACACCCTAACCCTTTTTACTTTTGATAGGGGGATCACTAAAAACTTGAAGGCCATGCCCTCACTTTTCAACTAAGCAGAAAAGAGATTC... | TCAAAAGAAGAATTAGATAAATAAATAAATAAAATAAGTAAAAATAAAAAAAAACTTTTTATAGTGAAACACTTGTAGAGGTTTCCATTACCATATAAAATTTGAGTAACTTTATTCTCTAATGTAATGTTTAAATGCACCTCTGTTTCTGAATGTGCCTTGTTTCCAAAGTTAGTTTTGTGATATTTTGACAAGATGTGCAAGTATTTTAAGGTTGCTAATCTATGTTTCACACCCTAACCCTTTTTACTTTTGATAGGGGGATCACTAAAAACTTGAAGGCCATGCCCTCACTTTTCAACTAAGCAGAAAAGAGATTC... |
Task1_train_48291 | A variant has been detected on Chromosome 21. What is its effect — pathogenic or benign? If pathogenic, name the disease. | Benign | AGAACGTGAATTAACAACTATTTAACTATGGCTTGTATTTTAAAAATCAAATACATATGTCTACAGAAGACAGAAGGGATTTCTTTATGAACATTTGTTATTTTTTTATTTTTTATTTTTTATTTTTTTATTTTTAGATTCCAAGACCTTTCTGAAGGTGAGGCGCGCCAAGAATCATCATTCATGGTGTTTTTCGTGAATATGGACCCCACTGGGGGCGTTGATGCCAAACGCTGAGAAACAAGATTGAAAGAACTTTACTGAAAACCTCTGATAAGAAATAATAGTCCCTAGCCCAGGCAAAATAGCAAGGCCACATC... | AGAACGTGAATTAACAACTATTTAACTATGGCTTGTATTTTAAAAATCAAATACATATGTCTACAGAAGACAGAAGGGATTTCTTTATGAACATTTGTTATTTTTTTATTTTTTATTTTTTATTTTTTTATTTTTAGATTCCAAGACCTTTCTGAAGGTGAGGCGCGCCAAGAATCATCATTCATGGTGTTTTTCGTGAATATGGACCCCACTGGGGGCGTTGATGCCAAACGCTGAGAAACAAGATTGAAAGAACTTTACTGAAAACCTCTGATAAGAAATAATAGTCCCTAGCCCAGGCAAAATAGCAAGGCCACATC... |
Task1_train_48292 | This sequence variant lies on Chromosome 21. Is it clinically significant, and what condition might it cause if any? | Benign | GACCCCACTGGGGGCGTTGATGCCAAACGCTGAGAAACAAGATTGAAAGAACTTTACTGAAAACCTCTGATAAGAAATAATAGTCCCTAGCCCAGGCAAAATAGCAAGGCCACATCTCTACTAAAAATGAAAAAATTAGCCAGGCGTGGTGGCGTGATCCTGTAGTCCCAGTCACTTGGGAGTCTAAGAGGGGAGGATCGCTTGAGCCCAGGAGGTCCAGGATGCAGTAAGTTGTAATCACACCACTGCACTCCAGCCTGGGTGACACAACAAGACCCCAACTTTTAAGAAAGACAGACCAGCCCTTACCTAGTCATACC... | GACCCCACTGGGGGCGTTGATGCCAAACGCTGAGAAACAAGATTGAAAGAACTTTACTGAAAACCTCTGATAAGAAATAATAGTCCCTAGCCCAGGCAAAATAGCAAGGCCACATCTCTACTAAAAATGAAAAAATTAGCCAGGCGTGGTGGCGTGATCCTGTAGTCCCAGTCACTTGGGAGTCTAAGAGGGGAGGATCGCTTGAGCCCAGGAGGTCCAGGATGCAGTAAGTTGTAATCACACCACTGCACTCCAGCCTGGGTGACACAACAAGACCCCAACTTTTAAGAAAGACAGACCAGCCCTTACCTAGTCATACC... |
Task1_train_48293 | This variant is present on Chromosome 21. Is the change likely to result in a pathogenic outcome? | Benign | ACAAATAGCTGAGTAGACAACAGATAGTGTAAAATGCTAGTAAACTAGGAAGTGGTGAGGCTACAATATATATTATGTTTACTTTTAATATAGTTTATGTAGTCTGGGTGCAGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCTAAGGGAGGAGAATTGATTGAGCTTAGGAGTTCAGGACTAGCCTGGACAACATAGTGAGACTCTGTCTCAACAAAAAAATATAAAAATTAGCCAGGTGTGGCAGCACGCACCTGTAGTCCTAGCTACTCAGGAGGCTGAAGAGGGTGGATCCCTTGATCCCAGGAGTTCAAG... | ACAAATAGCTGAGTAGACAACAGATAGTGTAAAATGCTAGTAAACTAGGAAGTGGTGAGGCTACAATATATATTATGTTTACTTTTAATATAGTTTATGTAGTCTGGGTGCAGTGGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCTAAGGGAGGAGAATTGATTGAGCTTAGGAGTTCAGGACTAGCCTGGACAACATAGTGAGACTCTGTCTCAACAAAAAAATATAAAAATTAGCCAGGTGTGGCAGCACGCACCTGTAGTCCTAGCTACTCAGGAGGCTGAAGAGGGTGGATCCCTTGATCCCAGGAGTTCAAG... |
Task1_train_48294 | A genomic change on Chromosome 21 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant. | Benign | TCCAGGAGCCTCCCTGAACCCACATGTCCTTCCTGGCTGCTCTCGCCATCCTCCTTTAGGATTTATTTTTCAGTGAGTGAGCTGGCCGGCTTGGACACTAAAGCAGGGTGTTGAGTGTGTTTCTGGGGACTGTGTTGGGCTCCGTCAGTGCTGGTTCAACATCCACACCGACCCGGCTGCCCTTGCATGGATTCCAGGTTGCGGGAGGGCCCCGGGCTTTGGCAATGCCTTCCAGGCTTGGTGGAAGCTTCTCAGTGGGTGGTGGGCTGGCTGACCCGAGGGCCCAGAGATAGAAAAGGGGTCTCTGGTCTGCCCTCAGG... | TCCAGGAGCCTCCCTGAACCCACATGTCCTTCCTGGCTGCTCTCGCCATCCTCCTTTAGGATTTATTTTTCAGTGAGTGAGCTGGCCGGCTTGGACACTAAAGCAGGGTGTTGAGTGTGTTTCTGGGGACTGTGTTGGGCTCCGTCAGTGCTGGTTCAACATCCACACCGACCCGGCTGCCCTTGCATGGATTCCAGGTTGCGGGAGGGCCCCGGGCTTTGGCAATGCCTTCCAGGCTTGGTGGAAGCTTCTCAGTGGGTGGTGGGCTGGCTGACCCGAGGGCCCAGAGATAGAAAAGGGGTCTCTGGTCTGCCCTCAGG... |
Task1_train_48295 | A genomic variant on Chromosome 21 is under review. What is the biological outcome — benign or pathogenic? | Benign | TGGCCCGTCTCCCCAGAGGACAGCAAGCTCTGTCCATATTGACCATGACTGGGTTCAGGCCTGAGACCTCAGGGCACCTGACTGCTCTGTGTGCAGTGTGTGTGAGGGGCAGGTGTACTCACCTGCCCCTCACTGCCTGCCAGAGGCCTCTGTGGGCAGCCGTGGGGTCCAGCCTGGCCCATTTTTTGTTTTGATGCTGCACTCATTGTCCGAGCCTGCTGGGTGGTCTGAGCTCTAAGTGTGGCATCCTGGTGCTGTGGAGGGCATGTCTTTGACCACGCTCAGGACCCCAGTATGCCCCAAATCAGTGCTGTGGCCAC... | TGGCCCGTCTCCCCAGAGGACAGCAAGCTCTGTCCATATTGACCATGACTGGGTTCAGGCCTGAGACCTCAGGGCACCTGACTGCTCTGTGTGCAGTGTGTGTGAGGGGCAGGTGTACTCACCTGCCCCTCACTGCCTGCCAGAGGCCTCTGTGGGCAGCCGTGGGGTCCAGCCTGGCCCATTTTTTGTTTTGATGCTGCACTCATTGTCCGAGCCTGCTGGGTGGTCTGAGCTCTAAGTGTGGCATCCTGGTGCTGTGGAGGGCATGTCTTTGACCACGCTCAGGACCCCAGTATGCCCCAAATCAGTGCTGTGGCCAC... |
Task1_train_48296 | 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 | GGTTCAGAGACAGAAGGTGGAATGGGGGCTGCCAGGGGCTGGCAGAGGGAGAATGGGAATGAGTGTTTAATAAAGGACAGAGGTTCCGTTTGGGAAGATGAGAAAGTTTGGGATATTGGTTGCACAATAGTGTGAGTGCATTTAACACTACTGAGCTGTAGTCTTCTCTCTCTCTCTCTCTTTTTTTTTTTATGATGGAGTCTTGCTCTGTCACCAAGGGCTGGCGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGTCCCGAGTAGCTGGGATTACAGGTCTG... | GGTTCAGAGACAGAAGGTGGAATGGGGGCTGCCAGGGGCTGGCAGAGGGAGAATGGGAATGAGTGTTTAATAAAGGACAGAGGTTCCGTTTGGGAAGATGAGAAAGTTTGGGATATTGGTTGCACAATAGTGTGAGTGCATTTAACACTACTGAGCTGTAGTCTTCTCTCTCTCTCTCTCTTTTTTTTTTTATGATGGAGTCTTGCTCTGTCACCAAGGGCTGGCGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGTCCCGAGTAGCTGGGATTACAGGTCTG... |
Task1_train_48297 | Located on Chromosome 21, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Benign | TGTAATTCACTCATTTGAAGTTTATAATTCAATGGCTTTTAGTCTGTTTCAGGAATATGTGCAACCATTACCACAGTCAATATTATTGTTCTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTGACTATCTTGCTCTCTTGCCTGGGCTGGAGTGCAGTGGCACGATCCCAGCTCACTGTAGCCTCAACCTTCTGGAGTCAAGAGATCCTCTTACTTTGGCTTCCTGAGTGGCAGGGACCACAGGTGTGGGCCACCACACCCAGCTATTTTTTTTCTTCTCTGTCTCCCAGGTTGGAGTGCAGTGGCATGATTGTAGCCC... | TGTAATTCACTCATTTGAAGTTTATAATTCAATGGCTTTTAGTCTGTTTCAGGAATATGTGCAACCATTACCACAGTCAATATTATTGTTCTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTGACTATCTTGCTCTCTTGCCTGGGCTGGAGTGCAGTGGCACGATCCCAGCTCACTGTAGCCTCAACCTTCTGGAGTCAAGAGATCCTCTTACTTTGGCTTCCTGAGTGGCAGGGACCACAGGTGTGGGCCACCACACCCAGCTATTTTTTTTCTTCTCTGTCTCCCAGGTTGGAGTGCAGTGGCATGATTGTAGCCC... |
Task1_train_48298 | Given this variant on Chromosome 21, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Benign | TCTCTGTCTCCCAGGTTGGAGTGCAGTGGCATGATTGTAGCCCACTGCAACCTCTGCTTTTTGGGCTCAATTGCTCCTCCCACCTCCACCTCCTGTGTAGCTTGGACTACAGGAGCATACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTTTTGCCATATTGCCCAGGCTGGTCTTTAACTCCTGAGCTCAAGGAATCTACACACCTCGGTCTCCCAAAGTGCTGGAATTACAGATGTGAGCCACCATGCCTGGCCACCACAGTCAATTTTAAAACATATTTATCACCCTAAAAAGAAACCCCATACTG... | TCTCTGTCTCCCAGGTTGGAGTGCAGTGGCATGATTGTAGCCCACTGCAACCTCTGCTTTTTGGGCTCAATTGCTCCTCCCACCTCCACCTCCTGTGTAGCTTGGACTACAGGAGCATACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTTTTGCCATATTGCCCAGGCTGGTCTTTAACTCCTGAGCTCAAGGAATCTACACACCTCGGTCTCCCAAAGTGCTGGAATTACAGATGTGAGCCACCATGCCTGGCCACCACAGTCAATTTTAAAACATATTTATCACCCTAAAAAGAAACCCCATACTG... |
Task1_train_48299 | This is a variant located on Chromosome 21. Is this mutation a likely cause of disease or not? | Benign | CCCAGGGAGGTAGGGCCACCTCAGGTTTCCAGAGACCCCGGGGCTTCTGCCTCTCACTCTGCAGGGTCTGCCAGCCCCTTGCTGCCCAGTCCTGGGGTCCCTCTGGTGATCCCCAGGGGCTGTCTGCCGCCTGCCATCTCTCCTGAAGTTTCTGGTCTCCTCTGTGCAGGGCGGCACTATCATTGGCAGCGCTCGCTGCAAGGCCTTTACCACCAGGGAGGGGCGCCGGGCAGCGGCCTACAACCTGGTCCAGCACGGCATCACCAACCTGTGCGTCATCGGCGGGGATGGCAGCCTCACAGGTGCCAACATCTTCCGCA... | CCCAGGGAGGTAGGGCCACCTCAGGTTTCCAGAGACCCCGGGGCTTCTGCCTCTCACTCTGCAGGGTCTGCCAGCCCCTTGCTGCCCAGTCCTGGGGTCCCTCTGGTGATCCCCAGGGGCTGTCTGCCGCCTGCCATCTCTCCTGAAGTTTCTGGTCTCCTCTGTGCAGGGCGGCACTATCATTGGCAGCGCTCGCTGCAAGGCCTTTACCACCAGGGAGGGGCGCCGGGCAGCGGCCTACAACCTGGTCCAGCACGGCATCACCAACCTGTGCGTCATCGGCGGGGATGGCAGCCTCACAGGTGCCAACATCTTCCGCA... |
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