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 |
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Task1_train_31200 | A genetic alteration is present in F9 (coagulation factor IX) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | GGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCAAAAAAAAAAGAGTTGAAGAGAAAAAGTCTAGGCTAAATTCA... | GGTGGCTCACACCTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCAAAAAAAAAAGAGTTGAAGAGAAAAAGTCTAGGCTAAATTCA... |
Task1_train_31201 | This genomic variant is located on Chromosome X, within the F9 (coagulation factor IX) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary factor IX deficiency disease | CTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCAAAAAAAAAAGAGTTGAAGAGAAAAAGTCTAGGCTAAATTCAAAGAAAAAAAGT... | CTATAATCCCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCAAAAAAAAAAGAGTTGAAGAGAAAAAGTCTAGGCTAAATTCAAAGAAAAAAAGT... |
Task1_train_31202 | A mutation found in F9 (coagulation factor IX) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not specified | CCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCAAAAAAAAAAGAGTTGAAGAGAAAAAGTCTAGGCTAAATTCAAAGAAAAAAAGTGAGCCCAA... | CCAGCACTTTCAGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCAAAAAAAAAAGAGTTGAAGAGAAAAAGTCTAGGCTAAATTCAAAGAAAAAAAGTGAGCCCAA... |
Task1_train_31203 | A sequence alteration has been identified in F9 (coagulation factor IX) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Hereditary factor IX deficiency disease | AGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCAAAAAAAAAAGAGTTGAAGAGAAAAAGTCTAGGCTAAATTCAAAGAAAAAAAGTGAGCCCAAAAGGAACTTGC... | AGAGGCCCAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACAAGGTGAAATGGTGAAACCCCGGCTTTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCAAAAAAAAAAGAGTTGAAGAGAAAAAGTCTAGGCTAAATTCAAAGAAAAAAAGTGAGCCCAAAAGGAACTTGC... |
Task1_train_31204 | A genomic change on Chromosome X affects F9 (coagulation factor IX). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not specified | TGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCAAAAAAAAAAGAGTTGAAGAGAAAAAGTCTAGGCTAAATTCAAAGAAAAAAAGTGAGCCCAAAAGGAACTTGCAGAGCAAGGGAAAAGCAGGGATGTCAAGGGACTAGAACACTCCATAAAGTGAACAGCTGCAATGAAAATAAGGGAAGAAAGTTTAGTTCATCTCCGTTTCTTTCCTTTCCTTTTTACTTTCCTTTCTCTTCCTTTTTGGAGTTAATCAGGAAGTAGTCCCAAATACCCCAGAAAGTTCATCTTATAAGCCCTTGGTCCTCTTGAGATGGTA... | TGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCAAAAAAAAAAGAGTTGAAGAGAAAAAGTCTAGGCTAAATTCAAAGAAAAAAAGTGAGCCCAAAAGGAACTTGCAGAGCAAGGGAAAAGCAGGGATGTCAAGGGACTAGAACACTCCATAAAGTGAACAGCTGCAATGAAAATAAGGGAAGAAAGTTTAGTTCATCTCCGTTTCTTTCCTTTCCTTTTTACTTTCCTTTCTCTTCCTTTTTGGAGTTAATCAGGAAGTAGTCCCAAATACCCCAGAAAGTTCATCTTATAAGCCCTTGGTCCTCTTGAGATGGTA... |
Task1_train_31205 | A variant affecting Chromosome X, within the gene F9 (coagulation factor IX), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | GACAGAGCAAGACTCTGTCAAAAAAAAAAGAGTTGAAGAGAAAAAGTCTAGGCTAAATTCAAAGAAAAAAAGTGAGCCCAAAAGGAACTTGCAGAGCAAGGGAAAAGCAGGGATGTCAAGGGACTAGAACACTCCATAAAGTGAACAGCTGCAATGAAAATAAGGGAAGAAAGTTTAGTTCATCTCCGTTTCTTTCCTTTCCTTTTTACTTTCCTTTCTCTTCCTTTTTGGAGTTAATCAGGAAGTAGTCCCAAATACCCCAGAAAGTTCATCTTATAAGCCCTTGGTCCTCTTGAGATGGTATCAGATATATTGCTAGA... | GACAGAGCAAGACTCTGTCAAAAAAAAAAGAGTTGAAGAGAAAAAGTCTAGGCTAAATTCAAAGAAAAAAAGTGAGCCCAAAAGGAACTTGCAGAGCAAGGGAAAAGCAGGGATGTCAAGGGACTAGAACACTCCATAAAGTGAACAGCTGCAATGAAAATAAGGGAAGAAAGTTTAGTTCATCTCCGTTTCTTTCCTTTCCTTTTTACTTTCCTTTCTCTTCCTTTTTGGAGTTAATCAGGAAGTAGTCCCAAATACCCCAGAAAGTTCATCTTATAAGCCCTTGGTCCTCTTGAGATGGTATCAGATATATTGCTAGA... |
Task1_train_31206 | A variant affecting Chromosome X, within the gene F9 (coagulation factor IX), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary factor IX deficiency disease | CTACAAAATTAGCCTATGTTTCTTCTTGCACATAGTAGAAACCCAAGCTTCTCACTGCTGTGCTATTCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTG... | CTACAAAATTAGCCTATGTTTCTTCTTGCACATAGTAGAAACCCAAGCTTCTCACTGCTGTGCTATTCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTG... |
Task1_train_31207 | Gene F9 (coagulation factor IX) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | TAGCCTATGTTTCTTCTTGCACATAGTAGAAACCCAAGCTTCTCACTGCTGTGCTATTCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCC... | TAGCCTATGTTTCTTCTTGCACATAGTAGAAACCCAAGCTTCTCACTGCTGTGCTATTCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCC... |
Task1_train_31208 | A variant was discovered in gene F9 (coagulation factor IX), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | TCTTGCACATAGTAGAAACCCAAGCTTCTCACTGCTGTGCTATTCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATT... | TCTTGCACATAGTAGAAACCCAAGCTTCTCACTGCTGTGCTATTCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATT... |
Task1_train_31209 | Given this variant in gene F9 (coagulation factor IX) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary factor IX deficiency disease | TCTTGCACATAGTAGAAACCCAAGCTTCTCACTGCTGTGCTATTCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATT... | TCTTGCACATAGTAGAAACCCAAGCTTCTCACTGCTGTGCTATTCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATT... |
Task1_train_31210 | Given this variant in gene F9 (coagulation factor IX) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not specified | TGCACATAGTAGAAACCCAAGCTTCTCACTGCTGTGCTATTCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACA... | TGCACATAGTAGAAACCCAAGCTTCTCACTGCTGTGCTATTCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACA... |
Task1_train_31211 | This sequence change occurs on Chromosome X, altering F9 (coagulation factor IX). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary factor IX deficiency disease | AAACCCAAGCTTCTCACTGCTGTGCTATTCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTT... | AAACCCAAGCTTCTCACTGCTGTGCTATTCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTT... |
Task1_train_31212 | Here is a genetic alteration in F9 (coagulation factor IX) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary factor IX deficiency disease | CTCACTGCTGTGCTATTCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTTCAAATCTAAATG... | CTCACTGCTGTGCTATTCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTTCAAATCTAAATG... |
Task1_train_31213 | This variant affects the gene F9 (coagulation factor IX) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary factor IX deficiency disease | TCACTGCTGTGCTATTCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTTCAAATCTAAATGC... | TCACTGCTGTGCTATTCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTTCAAATCTAAATGC... |
Task1_train_31214 | The gene F9 (coagulation factor IX) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hereditary factor IX deficiency disease | TCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTTCAAATCTAAATGCAGTTATTCATTAAAC... | TCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTTCAAATCTAAATGCAGTTATTCATTAAAC... |
Task1_train_31215 | Mutation context: Chromosome X, Gene F9 (coagulation factor IX). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not specified | TCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTTCAAATCTAAATGCAGTTATTCATTAAAC... | TCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTTCAAATCTAAATGCAGTTATTCATTAAAC... |
Task1_train_31216 | Consider a variant on Chromosome X in gene F9 (coagulation factor IX). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary factor IX deficiency disease | TCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTTCAAATCTAAATGCAGTTATTCATTAAAC... | TCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTTCAAATCTAAATGCAGTTATTCATTAAAC... |
Task1_train_31217 | Consider a variant on Chromosome X in gene F9 (coagulation factor IX). Determine its clinical classification and disease relevance. | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | TCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTTCAAATCTAAATGCAGTTATTCATTAAAC... | TCTGTACCATCAACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTTCAAATCTAAATGCAGTTATTCATTAAAC... |
Task1_train_31218 | This sequence variant lies in F9 (coagulation factor IX) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary factor IX deficiency disease | ACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTTCAAATCTAAATGCAGTTATTCATTAAACAGGAACCTGGTA... | ACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTTCAAATCTAAATGCAGTTATTCATTAAACAGGAACCTGGTA... |
Task1_train_31219 | This sequence variant lies in F9 (coagulation factor IX) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | ACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTTCAAATCTAAATGCAGTTATTCATTAAACAGGAACCTGGTA... | ACTCATCACATAAAGAGCCTGGTTGAAGAATGATTGTCCAACCACATTACTAGCATCTGTCAAGACTTTCCAGTTTACAAAAGGCCTATCACATTTAACCCTCACACCATCCTTGTGACCAAAGCATTATTAACTCCATTTTACAGGAGAGTAAACTGAAGCTTAGGGAAGTTAAAAGAACTGCCAAAGGTCTCCCAGTTGGGGAGTCATGAAGCCCAGAAGAGAAGCCAAATTCTCTGCTGCTCAACCCCTTGCTTTCACTATTACACCTCAGGGCCTTCAAATCTAAATGCAGTTATTCATTAAACAGGAACCTGGTA... |
Task1_train_31220 | This is a variant in F9 (coagulation factor IX), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary factor IX deficiency disease | ATTGATGGGCATTTAGGTTGATTCCATGTCTGCTATTCTAACACTGTAATTTCTAAAGACTTCCAGATTCTACTTTTATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGAT... | ATTGATGGGCATTTAGGTTGATTCCATGTCTGCTATTCTAACACTGTAATTTCTAAAGACTTCCAGATTCTACTTTTATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGAT... |
Task1_train_31221 | A mutation on Chromosome X affecting F9 (coagulation factor IX) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary factor IX deficiency disease | GGGCATTTAGGTTGATTCCATGTCTGCTATTCTAACACTGTAATTTCTAAAGACTTCCAGATTCTACTTTTATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAG... | GGGCATTTAGGTTGATTCCATGTCTGCTATTCTAACACTGTAATTTCTAAAGACTTCCAGATTCTACTTTTATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAG... |
Task1_train_31222 | The following genetic variant occurs in F9 (coagulation factor IX) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary factor IX deficiency disease | TTTAGGTTGATTCCATGTCTGCTATTCTAACACTGTAATTTCTAAAGACTTCCAGATTCTACTTTTATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAAC... | TTTAGGTTGATTCCATGTCTGCTATTCTAACACTGTAATTTCTAAAGACTTCCAGATTCTACTTTTATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAAC... |
Task1_train_31223 | An alteration has been detected in F9 (coagulation factor IX) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | TTTAGGTTGATTCCATGTCTGCTATTCTAACACTGTAATTTCTAAAGACTTCCAGATTCTACTTTTATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAAC... | TTTAGGTTGATTCCATGTCTGCTATTCTAACACTGTAATTTCTAAAGACTTCCAGATTCTACTTTTATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAAC... |
Task1_train_31224 | A variant on Chromosome X in gene F9 (coagulation factor IX) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary factor IX deficiency disease | GGTTGATTCCATGTCTGCTATTCTAACACTGTAATTTCTAAAGACTTCCAGATTCTACTTTTATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAACATAC... | GGTTGATTCCATGTCTGCTATTCTAACACTGTAATTTCTAAAGACTTCCAGATTCTACTTTTATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAACATAC... |
Task1_train_31225 | Given this context: Chromosome X, gene F9 (coagulation factor IX) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not specified | GGTTGATTCCATGTCTGCTATTCTAACACTGTAATTTCTAAAGACTTCCAGATTCTACTTTTATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAACATAC... | GGTTGATTCCATGTCTGCTATTCTAACACTGTAATTTCTAAAGACTTCCAGATTCTACTTTTATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAACATAC... |
Task1_train_31226 | A variant affecting Chromosome X, within the gene F9 (coagulation factor IX), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not specified | TTCCATGTCTGCTATTCTAACACTGTAATTTCTAAAGACTTCCAGATTCTACTTTTATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAACATACAAATAT... | TTCCATGTCTGCTATTCTAACACTGTAATTTCTAAAGACTTCCAGATTCTACTTTTATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAACATACAAATAT... |
Task1_train_31227 | This variant affects the gene F9 (coagulation factor IX) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary factor IX deficiency disease | ATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAACATACAAATATCAATTGTATGTCTATATACCAGCAACGATTCAAAAATGATTTTTATAATAGCATTA... | ATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAACATACAAATATCAATTGTATGTCTATATACCAGCAACGATTCAAAAATGATTTTTATAATAGCATTA... |
Task1_train_31228 | A change on Chromosome X affects gene F9 (coagulation factor IX). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | ATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAACATACAAATATCAATTGTATGTCTATATACCAGCAACGATTCAAAAATGATTTTTATAATAGCATTA... | ATAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAACATACAAATATCAATTGTATGTCTATATACCAGCAACGATTCAAAAATGATTTTTATAATAGCATTA... |
Task1_train_31229 | Chromosome X houses a mutation in gene F9 (coagulation factor IX). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hereditary factor IX deficiency disease | TAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAACATACAAATATCAATTGTATGTCTATATACCAGCAACGATTCAAAAATGATTTTTATAATAGCATTAA... | TAGGTAACCTGTTAAACAGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAACATACAAATATCAATTGTATGTCTATATACCAGCAACGATTCAAAAATGATTTTTATAATAGCATTAA... |
Task1_train_31230 | Here is a mutation in F9 (coagulation factor IX) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary factor IX deficiency disease | AGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAACATACAAATATCAATTGTATGTCTATATACCAGCAACGATTCAAAAATGATTTTTATAATAGCATTAAAAATTAGACGCTTAGTA... | AGTCTAGCTCTGGAAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAACATACAAATATCAATTGTATGTCTATATACCAGCAACGATTCAAAAATGATTTTTATAATAGCATTAAAAATTAGACGCTTAGTA... |
Task1_train_31231 | Given this variant in gene F9 (coagulation factor IX) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not specified | AAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAACATACAAATATCAATTGTATGTCTATATACCAGCAACGATTCAAAAATGATTTTTATAATAGCATTAAAAATTAGACGCTTAGTAATAAATGTGAGAA... | AAGCCAAGCAATTTCTAGAATAACTAAGCAATAGAAATTACACTTCAATGCAGAAAGGCAGTATCTACATGAGATTATGAAATTGCGGTTGCTTTTTGTGTTCACTGAAAAAAATAAGTAAAACTGTAACTTTCAGAAAAAATGATTGTACATATAGAAAACCCAAAGCATCTAAACAATTAAAATAAATAAGTATAGAAAGATTACTGGATACAGAGTCAACATACAAATATCAATTGTATGTCTATATACCAGCAACGATTCAAAAATGATTTTTATAATAGCATTAAAAATTAGACGCTTAGTAATAAATGTGAGAA... |
Task1_train_31232 | A mutation on Chromosome X affecting F9 (coagulation factor IX) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | GGCTGTGAACAAAACAATGTTTCCCAGTCATGCCAACCATGCCACCATTTTAACAGCTGATTAGTGTATTCAGAACATCTCCACTCCATGTTCGTATGGCTGTTATCTAAAGATGAAAGCAGTAGACACTTTTATTTTTTGAAAAATTTAGGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAA... | GGCTGTGAACAAAACAATGTTTCCCAGTCATGCCAACCATGCCACCATTTTAACAGCTGATTAGTGTATTCAGAACATCTCCACTCCATGTTCGTATGGCTGTTATCTAAAGATGAAAGCAGTAGACACTTTTATTTTTTGAAAAATTTAGGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAA... |
Task1_train_31233 | Here is a variant affecting F9 (coagulation factor IX) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary factor IX deficiency disease | GGCTGTGAACAAAACAATGTTTCCCAGTCATGCCAACCATGCCACCATTTTAACAGCTGATTAGTGTATTCAGAACATCTCCACTCCATGTTCGTATGGCTGTTATCTAAAGATGAAAGCAGTAGACACTTTTATTTTTTGAAAAATTTAGGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAA... | GGCTGTGAACAAAACAATGTTTCCCAGTCATGCCAACCATGCCACCATTTTAACAGCTGATTAGTGTATTCAGAACATCTCCACTCCATGTTCGTATGGCTGTTATCTAAAGATGAAAGCAGTAGACACTTTTATTTTTTGAAAAATTTAGGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAA... |
Task1_train_31234 | The gene F9 (coagulation factor IX) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not specified | GCTGTGAACAAAACAATGTTTCCCAGTCATGCCAACCATGCCACCATTTTAACAGCTGATTAGTGTATTCAGAACATCTCCACTCCATGTTCGTATGGCTGTTATCTAAAGATGAAAGCAGTAGACACTTTTATTTTTTGAAAAATTTAGGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAG... | GCTGTGAACAAAACAATGTTTCCCAGTCATGCCAACCATGCCACCATTTTAACAGCTGATTAGTGTATTCAGAACATCTCCACTCCATGTTCGTATGGCTGTTATCTAAAGATGAAAGCAGTAGACACTTTTATTTTTTGAAAAATTTAGGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAG... |
Task1_train_31235 | A mutation in F9 (coagulation factor IX), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hereditary factor IX deficiency disease | CAAAACAATGTTTCCCAGTCATGCCAACCATGCCACCATTTTAACAGCTGATTAGTGTATTCAGAACATCTCCACTCCATGTTCGTATGGCTGTTATCTAAAGATGAAAGCAGTAGACACTTTTATTTTTTGAAAAATTTAGGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAGAAATTAAA... | CAAAACAATGTTTCCCAGTCATGCCAACCATGCCACCATTTTAACAGCTGATTAGTGTATTCAGAACATCTCCACTCCATGTTCGTATGGCTGTTATCTAAAGATGAAAGCAGTAGACACTTTTATTTTTTGAAAAATTTAGGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAGAAATTAAA... |
Task1_train_31236 | This sequence change occurs on Chromosome X, altering F9 (coagulation factor IX). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary factor IX deficiency disease | GCCACCATTTTAACAGCTGATTAGTGTATTCAGAACATCTCCACTCCATGTTCGTATGGCTGTTATCTAAAGATGAAAGCAGTAGACACTTTTATTTTTTGAAAAATTTAGGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAGAAATTAAAGAAAGAACCAGTGCCGAGATCAGCTTGGTCA... | GCCACCATTTTAACAGCTGATTAGTGTATTCAGAACATCTCCACTCCATGTTCGTATGGCTGTTATCTAAAGATGAAAGCAGTAGACACTTTTATTTTTTGAAAAATTTAGGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAGAAATTAAAGAAAGAACCAGTGCCGAGATCAGCTTGGTCA... |
Task1_train_31237 | This variant affects the gene F9 (coagulation factor IX) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary factor IX deficiency disease | ATTTAGGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAGAAATTAAAGAAAGAACCAGTGCCGAGATCAGCTTGGTCAGGGAGACCCTAATCCTGCGGCACTAGAGGAATTAAAGACACACACACAGAAATATAGAGTATGGAGTGGGAAATCAGGGGTCTCACAGCCTTCAGAGCTGAGAGC... | ATTTAGGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAGAAATTAAAGAAAGAACCAGTGCCGAGATCAGCTTGGTCAGGGAGACCCTAATCCTGCGGCACTAGAGGAATTAAAGACACACACACAGAAATATAGAGTATGGAGTGGGAAATCAGGGGTCTCACAGCCTTCAGAGCTGAGAGC... |
Task1_train_31238 | Mutation context: Chromosome X, Gene F9 (coagulation factor IX). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hemophilia b(m) | GGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAGAAATTAAAGAAAGAACCAGTGCCGAGATCAGCTTGGTCAGGGAGACCCTAATCCTGCGGCACTAGAGGAATTAAAGACACACACACAGAAATATAGAGTATGGAGTGGGAAATCAGGGGTCTCACAGCCTTCAGAGCTGAGAGCCCCGA... | GGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAGAAATTAAAGAAAGAACCAGTGCCGAGATCAGCTTGGTCAGGGAGACCCTAATCCTGCGGCACTAGAGGAATTAAAGACACACACACAGAAATATAGAGTATGGAGTGGGAAATCAGGGGTCTCACAGCCTTCAGAGCTGAGAGCCCCGA... |
Task1_train_31239 | This sequence variant lies in F9 (coagulation factor IX) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary factor IX deficiency disease | GGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAGAAATTAAAGAAAGAACCAGTGCCGAGATCAGCTTGGTCAGGGAGACCCTAATCCTGCGGCACTAGAGGAATTAAAGACACACACACAGAAATATAGAGTATGGAGTGGGAAATCAGGGGTCTCACAGCCTTCAGAGCTGAGAGCCCCGA... | GGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAGAAATTAAAGAAAGAACCAGTGCCGAGATCAGCTTGGTCAGGGAGACCCTAATCCTGCGGCACTAGAGGAATTAAAGACACACACACAGAAATATAGAGTATGGAGTGGGAAATCAGGGGTCTCACAGCCTTCAGAGCTGAGAGCCCCGA... |
Task1_train_31240 | This is a variant in F9 (coagulation factor IX), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary factor IX deficiency disease | ATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAGAAATTAAAGAAAGAACCAGTGCCGAGATCAGCTTGGTCAGGGAGACCCTAATCCTGCGGCACTAGAGGAATTAAAGACACACACACAGAAATATAGAGTATGGAGTGGGAAATCAGGGGTCTCACAGCCTTCAGAGCTGAGAGCCCCGAACAGAGATTTACCCA... | ATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAGAAATTAAAGAAAGAACCAGTGCCGAGATCAGCTTGGTCAGGGAGACCCTAATCCTGCGGCACTAGAGGAATTAAAGACACACACACAGAAATATAGAGTATGGAGTGGGAAATCAGGGGTCTCACAGCCTTCAGAGCTGAGAGCCCCGAACAGAGATTTACCCA... |
Task1_train_31241 | Given this variant in gene F9 (coagulation factor IX) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary factor IX deficiency disease | AATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAGAAATTAAAGAAAGAACCAGTGCCGAGATCAGCTTGGTCAGGGAGACCCTAATCCTGCGGCACTAGAGGAATTAAAGACACACACACAGAAATATAGAGTATGGAGTGGGAAATCAGGGGTCTCACAGCCTTCAGAGCTGAGAGCCCCGAACAGAGATTTACCCACATATTTATTGAC... | AATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAGAAATTAAAGAAAGAACCAGTGCCGAGATCAGCTTGGTCAGGGAGACCCTAATCCTGCGGCACTAGAGGAATTAAAGACACACACACAGAAATATAGAGTATGGAGTGGGAAATCAGGGGTCTCACAGCCTTCAGAGCTGAGAGCCCCGAACAGAGATTTACCCACATATTTATTGAC... |
Task1_train_31242 | Gene F9 (coagulation factor IX), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hereditary factor IX deficiency disease | CAAGTCTTGGAAATTCTGATTCAGTAGATATATAACAGGTCTCAAACTTAATTATGTAAAGAATATTCTGGAGAGCTTCCTTTTACCCAGTCCCACCCACCAAATATTCTGATAAATTAAGCTTCGATTAGCCCCCAGATCTGCATTTTATAAGGATCCCCAGATGATTCTACTGCAATTGGTCCACAGACCATGCCTGGACCGAATTTGGGTGCTTAGGAGCACAAATTCTGGAGCCGGGCAGACTTGAGTTTGCTTCCTAGCTTTACCAACTGATCTCAGGGGAGTTAATGTTTACCTCTAAACTTTAGCTCATGCAT... | CAAGTCTTGGAAATTCTGATTCAGTAGATATATAACAGGTCTCAAACTTAATTATGTAAAGAATATTCTGGAGAGCTTCCTTTTACCCAGTCCCACCCACCAAATATTCTGATAAATTAAGCTTCGATTAGCCCCCAGATCTGCATTTTATAAGGATCCCCAGATGATTCTACTGCAATTGGTCCACAGACCATGCCTGGACCGAATTTGGGTGCTTAGGAGCACAAATTCTGGAGCCGGGCAGACTTGAGTTTGCTTCCTAGCTTTACCAACTGATCTCAGGGGAGTTAATGTTTACCTCTAAACTTTAGCTCATGCAT... |
Task1_train_31243 | This variant lies on Chromosome X and affects the gene F9 (coagulation factor IX). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | CAAGTCTTGGAAATTCTGATTCAGTAGATATATAACAGGTCTCAAACTTAATTATGTAAAGAATATTCTGGAGAGCTTCCTTTTACCCAGTCCCACCCACCAAATATTCTGATAAATTAAGCTTCGATTAGCCCCCAGATCTGCATTTTATAAGGATCCCCAGATGATTCTACTGCAATTGGTCCACAGACCATGCCTGGACCGAATTTGGGTGCTTAGGAGCACAAATTCTGGAGCCGGGCAGACTTGAGTTTGCTTCCTAGCTTTACCAACTGATCTCAGGGGAGTTAATGTTTACCTCTAAACTTTAGCTCATGCAT... | CAAGTCTTGGAAATTCTGATTCAGTAGATATATAACAGGTCTCAAACTTAATTATGTAAAGAATATTCTGGAGAGCTTCCTTTTACCCAGTCCCACCCACCAAATATTCTGATAAATTAAGCTTCGATTAGCCCCCAGATCTGCATTTTATAAGGATCCCCAGATGATTCTACTGCAATTGGTCCACAGACCATGCCTGGACCGAATTTGGGTGCTTAGGAGCACAAATTCTGGAGCCGGGCAGACTTGAGTTTGCTTCCTAGCTTTACCAACTGATCTCAGGGGAGTTAATGTTTACCTCTAAACTTTAGCTCATGCAT... |
Task1_train_31244 | A sequence alteration has been identified in F9 (coagulation factor IX) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Hereditary factor IX deficiency disease | CAAGTCTTGGAAATTCTGATTCAGTAGATATATAACAGGTCTCAAACTTAATTATGTAAAGAATATTCTGGAGAGCTTCCTTTTACCCAGTCCCACCCACCAAATATTCTGATAAATTAAGCTTCGATTAGCCCCCAGATCTGCATTTTATAAGGATCCCCAGATGATTCTACTGCAATTGGTCCACAGACCATGCCTGGACCGAATTTGGGTGCTTAGGAGCACAAATTCTGGAGCCGGGCAGACTTGAGTTTGCTTCCTAGCTTTACCAACTGATCTCAGGGGAGTTAATGTTTACCTCTAAACTTTAGCTCATGCAT... | CAAGTCTTGGAAATTCTGATTCAGTAGATATATAACAGGTCTCAAACTTAATTATGTAAAGAATATTCTGGAGAGCTTCCTTTTACCCAGTCCCACCCACCAAATATTCTGATAAATTAAGCTTCGATTAGCCCCCAGATCTGCATTTTATAAGGATCCCCAGATGATTCTACTGCAATTGGTCCACAGACCATGCCTGGACCGAATTTGGGTGCTTAGGAGCACAAATTCTGGAGCCGGGCAGACTTGAGTTTGCTTCCTAGCTTTACCAACTGATCTCAGGGGAGTTAATGTTTACCTCTAAACTTTAGCTCATGCAT... |
Task1_train_31245 | A variant on Chromosome X in gene F9 (coagulation factor IX) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary factor IX deficiency disease | AATTATGTAAAGAATATTCTGGAGAGCTTCCTTTTACCCAGTCCCACCCACCAAATATTCTGATAAATTAAGCTTCGATTAGCCCCCAGATCTGCATTTTATAAGGATCCCCAGATGATTCTACTGCAATTGGTCCACAGACCATGCCTGGACCGAATTTGGGTGCTTAGGAGCACAAATTCTGGAGCCGGGCAGACTTGAGTTTGCTTCCTAGCTTTACCAACTGATCTCAGGGGAGTTAATGTTTACCTCTAAACTTTAGCTCATGCATCTATAAATAAATATATTAATATCATGTCATAAGGATATTATGTTGTATT... | AATTATGTAAAGAATATTCTGGAGAGCTTCCTTTTACCCAGTCCCACCCACCAAATATTCTGATAAATTAAGCTTCGATTAGCCCCCAGATCTGCATTTTATAAGGATCCCCAGATGATTCTACTGCAATTGGTCCACAGACCATGCCTGGACCGAATTTGGGTGCTTAGGAGCACAAATTCTGGAGCCGGGCAGACTTGAGTTTGCTTCCTAGCTTTACCAACTGATCTCAGGGGAGTTAATGTTTACCTCTAAACTTTAGCTCATGCATCTATAAATAAATATATTAATATCATGTCATAAGGATATTATGTTGTATT... |
Task1_train_31246 | This alteration occurs within gene F9 (coagulation factor IX) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Hereditary factor IX deficiency disease | GAGCCAAGATCTCACCACTGCTCTCCAGCCTGGTGACAGGGCAAGACTCCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCA... | GAGCCAAGATCTCACCACTGCTCTCCAGCCTGGTGACAGGGCAAGACTCCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCA... |
Task1_train_31247 | Consider this mutation in F9 (coagulation factor IX) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | GAGCCAAGATCTCACCACTGCTCTCCAGCCTGGTGACAGGGCAAGACTCCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCA... | GAGCCAAGATCTCACCACTGCTCTCCAGCCTGGTGACAGGGCAAGACTCCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCA... |
Task1_train_31248 | This variant affects the gene F9 (coagulation factor IX) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary factor IX deficiency disease | GTGACAGGGCAAGACTCCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAA... | GTGACAGGGCAAGACTCCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAA... |
Task1_train_31249 | This alteration in F9 (coagulation factor IX) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not specified | GTGACAGGGCAAGACTCCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAA... | GTGACAGGGCAAGACTCCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAA... |
Task1_train_31250 | This variant affects gene F9 (coagulation factor IX) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary factor IX deficiency disease | TGACAGGGCAAGACTCCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAA... | TGACAGGGCAAGACTCCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAA... |
Task1_train_31251 | With a mutation on Chromosome X in gene F9 (coagulation factor IX), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary factor IX deficiency disease | AAGACTCCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTG... | AAGACTCCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTG... |
Task1_train_31252 | A variant affecting Chromosome X, within the gene F9 (coagulation factor IX), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary factor IX deficiency disease | AAGACTCCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTG... | AAGACTCCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTG... |
Task1_train_31253 | A mutation on Chromosome X affecting F9 (coagulation factor IX) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | AAGACTCCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTG... | AAGACTCCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTG... |
Task1_train_31254 | Assess the clinical impact of this variant on gene F9 (coagulation factor IX), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary factor IX deficiency disease | CCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCT... | CCGTCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCT... |
Task1_train_31255 | Given this context: Chromosome X, gene F9 (coagulation factor IX) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | TCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTA... | TCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTA... |
Task1_train_31256 | Here is a mutation in F9 (coagulation factor IX) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not specified | TCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTA... | TCAAAAAAAAAAAAGAGAGGGAGAGCCAGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTA... |
Task1_train_31257 | Gene F9 (coagulation factor IX) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary factor IX deficiency disease | AGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCT... | AGAGTATGAAAAAGGAAGTCAGAGCCCTTTAATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCT... |
Task1_train_31258 | This variant affects the gene F9 (coagulation factor IX) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not specified | AATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAA... | AATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAA... |
Task1_train_31259 | Gene F9 (coagulation factor IX) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary factor IX deficiency disease | AATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAA... | AATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAA... |
Task1_train_31260 | The gene F9 (coagulation factor IX), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | AATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAA... | AATGAGTCAGCTTTGTAGGTCTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAA... |
Task1_train_31261 | A sequence alteration has been identified in F9 (coagulation factor IX) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Hereditary factor IX deficiency disease | AGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATAT... | AGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATAT... |
Task1_train_31262 | This gene mutation involves F9 (coagulation factor IX) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary factor IX deficiency disease | GGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGAC... | GGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGAC... |
Task1_train_31263 | Gene F9 (coagulation factor IX) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary factor IX deficiency disease | GGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCC... | GGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCC... |
Task1_train_31264 | A variant affecting Chromosome X, within the gene F9 (coagulation factor IX), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | ATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTAT... | ATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTAT... |
Task1_train_31265 | This is a variant in F9 (coagulation factor IX), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary factor IX deficiency disease | ATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTAT... | ATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTAT... |
Task1_train_31266 | This sequence change occurs on Chromosome X, altering F9 (coagulation factor IX). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary factor IX deficiency disease | GATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAA... | GATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAA... |
Task1_train_31267 | This sequence change occurs on Chromosome X, altering F9 (coagulation factor IX). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | GATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAA... | GATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAA... |
Task1_train_31268 | Gene F9 (coagulation factor IX) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary factor IX deficiency disease | TATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATA... | TATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATA... |
Task1_train_31269 | A mutation found in F9 (coagulation factor IX) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | CTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCC... | CTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCC... |
Task1_train_31270 | A mutation in F9 (coagulation factor IX), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hereditary factor IX deficiency disease | CTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTG... | CTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTG... |
Task1_train_31271 | Located on Chromosome X, this mutation impacts F9 (coagulation factor IX). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not specified | CTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAG... | CTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAG... |
Task1_train_31272 | A genetic alteration is present in F9 (coagulation factor IX) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary factor IX deficiency disease | TTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTA... | TTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTA... |
Task1_train_31273 | Given this variant in gene F9 (coagulation factor IX) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | TTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTA... | TTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTA... |
Task1_train_31274 | Gene F9 (coagulation factor IX) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary factor IX deficiency disease | TTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTA... | TTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTA... |
Task1_train_31275 | Chromosome X houses a mutation in gene F9 (coagulation factor IX). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not specified | TTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTA... | TTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTA... |
Task1_train_31276 | Given this variant in gene F9 (coagulation factor IX) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary factor VIII deficiency disease | TTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTA... | TTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTA... |
Task1_train_31277 | The following genetic variant occurs in F9 (coagulation factor IX) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary factor IX deficiency disease | TAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGG... | TAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGG... |
Task1_train_31278 | This variant affects gene F9 (coagulation factor IX) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | AAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAG... | AAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAG... |
Task1_train_31279 | A mutation in F9 (coagulation factor IX), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hereditary factor IX deficiency disease | AAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAG... | AAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAG... |
Task1_train_31280 | A sequence alteration has been identified in F9 (coagulation factor IX) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Hereditary factor IX deficiency disease | GTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTT... | GTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTT... |
Task1_train_31281 | This mutation is located in gene F9 (coagulation factor IX) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | GTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTT... | GTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTT... |
Task1_train_31282 | Located on Chromosome X, this mutation impacts F9 (coagulation factor IX). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hereditary factor IX deficiency disease | GGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATG... | GGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATG... |
Task1_train_31283 | Gene F9 (coagulation factor IX), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hereditary factor IX deficiency disease | ATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGT... | ATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGT... |
Task1_train_31284 | The following genetic variant occurs in F9 (coagulation factor IX) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | ATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGT... | ATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGT... |
Task1_train_31285 | This alteration in F9 (coagulation factor IX) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary factor IX deficiency disease | TTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTT... | TTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTT... |
Task1_train_31286 | The gene F9 (coagulation factor IX) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | TTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTT... | TTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTT... |
Task1_train_31287 | A genetic alteration is present in F9 (coagulation factor IX) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not specified | ACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAG... | ACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAG... |
Task1_train_31288 | The gene F9 (coagulation factor IX), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary factor IX deficiency disease | CCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGA... | CCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGA... |
Task1_train_31289 | Consider this mutation in F9 (coagulation factor IX) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | CCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGA... | CCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGA... |
Task1_train_31290 | A genetic alteration is present in F9 (coagulation factor IX) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary factor IX deficiency disease | CCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGA... | CCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGA... |
Task1_train_31291 | This variant affects gene F9 (coagulation factor IX) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary factor IX deficiency disease | AAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGA... | AAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGA... |
Task1_train_31292 | Here is a genetic alteration in F9 (coagulation factor IX) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary factor IX deficiency disease | AATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAG... | AATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAG... |
Task1_train_31293 | This alteration occurs within gene F9 (coagulation factor IX) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | AATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAG... | AATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAG... |
Task1_train_31294 | Gene F9 (coagulation factor IX) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary factor IX deficiency disease | CACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTA... | CACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTA... |
Task1_train_31295 | This sequence variant lies in F9 (coagulation factor IX) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary factor IX deficiency disease | TTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGC... | TTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGC... |
Task1_train_31296 | A variant was discovered on Chromosome X, affecting F9 (coagulation factor IX). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Thrombophilia, X-linked, due to factor 9 defect | CTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTG... | CTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTG... |
Task1_train_31297 | This sequence change occurs on Chromosome X, altering F9 (coagulation factor IX). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary factor IX deficiency disease | CTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTG... | CTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTG... |
Task1_train_31298 | Here is a mutation in F9 (coagulation factor IX) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary factor IX deficiency disease | TTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGG... | TTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGG... |
Task1_train_31299 | Gene F9 (coagulation factor IX), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hereditary factor IX deficiency disease | AAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTAT... | AAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAAGTCGATCTAGACATTGAGATGGAGAAAATATTCATTGTCGACTGTAATTATGCAACGAATATCCAGTTGAGATAATGGACTTGCCTCTTATCTAATAATACCCAGGCTCAATGCGTCACTGCTTTGTCCACTTTGCCCAAAATTCAAGCACAGCTAAGTTGATATTTTAGGACAAAGGCAGCTTACTATCCAGCCAGAGGGGAGTAGAATATGGTTAAGAGAGAGTGGAAAGAATGAATGAGCCCTGCTATTCCTCACTGCCTGGATGGCTAT... |
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