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_31800 | Given this context: Chromosome X, gene F8 (coagulation factor VIII) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary factor VIII deficiency disease | ATTTTTACTCTGAGTTCAATTTAATCTGGTTTTCTAACTCACTAATTTGGTTTTCTAGAGTGTCCATCTTGCTATTCAGTGCCCCTATTTGTTTTAAAAATCAGTGTTCACATTTTTATTTCCAGTGTAAAAACACAATTCTCAAAGGCATTTGTTTGTATGTGTCAATGTTTTATTTAACTCATTACTGAAGAAACCAGCAGGAAAATAAAAGAGCTAGTTCCATGAACATTTGAGAAATAGAGATGTATATAGTCAATGGGAAAAGAATGCCAAAATAAGATTATCAAGTTAAACATAACAGGAAATAAAACCATATC... | ATTTTTACTCTGAGTTCAATTTAATCTGGTTTTCTAACTCACTAATTTGGTTTTCTAGAGTGTCCATCTTGCTATTCAGTGCCCCTATTTGTTTTAAAAATCAGTGTTCACATTTTTATTTCCAGTGTAAAAACACAATTCTCAAAGGCATTTGTTTGTATGTGTCAATGTTTTATTTAACTCATTACTGAAGAAACCAGCAGGAAAATAAAAGAGCTAGTTCCATGAACATTTGAGAAATAGAGATGTATATAGTCAATGGGAAAAGAATGCCAAAATAAGATTATCAAGTTAAACATAACAGGAAATAAAACCATATC... |
Task1_train_31801 | Mutation context: Chromosome X, Gene F8 (coagulation factor VIII). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hereditary factor IX deficiency disease | GAGTTCAATTTAATCTGGTTTTCTAACTCACTAATTTGGTTTTCTAGAGTGTCCATCTTGCTATTCAGTGCCCCTATTTGTTTTAAAAATCAGTGTTCACATTTTTATTTCCAGTGTAAAAACACAATTCTCAAAGGCATTTGTTTGTATGTGTCAATGTTTTATTTAACTCATTACTGAAGAAACCAGCAGGAAAATAAAAGAGCTAGTTCCATGAACATTTGAGAAATAGAGATGTATATAGTCAATGGGAAAAGAATGCCAAAATAAGATTATCAAGTTAAACATAACAGGAAATAAAACCATATCACCTTTGGGGT... | GAGTTCAATTTAATCTGGTTTTCTAACTCACTAATTTGGTTTTCTAGAGTGTCCATCTTGCTATTCAGTGCCCCTATTTGTTTTAAAAATCAGTGTTCACATTTTTATTTCCAGTGTAAAAACACAATTCTCAAAGGCATTTGTTTGTATGTGTCAATGTTTTATTTAACTCATTACTGAAGAAACCAGCAGGAAAATAAAAGAGCTAGTTCCATGAACATTTGAGAAATAGAGATGTATATAGTCAATGGGAAAAGAATGCCAAAATAAGATTATCAAGTTAAACATAACAGGAAATAAAACCATATCACCTTTGGGGT... |
Task1_train_31802 | This alteration occurs within gene F8 (coagulation factor VIII) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | AGTTCAATTTAATCTGGTTTTCTAACTCACTAATTTGGTTTTCTAGAGTGTCCATCTTGCTATTCAGTGCCCCTATTTGTTTTAAAAATCAGTGTTCACATTTTTATTTCCAGTGTAAAAACACAATTCTCAAAGGCATTTGTTTGTATGTGTCAATGTTTTATTTAACTCATTACTGAAGAAACCAGCAGGAAAATAAAAGAGCTAGTTCCATGAACATTTGAGAAATAGAGATGTATATAGTCAATGGGAAAAGAATGCCAAAATAAGATTATCAAGTTAAACATAACAGGAAATAAAACCATATCACCTTTGGGGTT... | AGTTCAATTTAATCTGGTTTTCTAACTCACTAATTTGGTTTTCTAGAGTGTCCATCTTGCTATTCAGTGCCCCTATTTGTTTTAAAAATCAGTGTTCACATTTTTATTTCCAGTGTAAAAACACAATTCTCAAAGGCATTTGTTTGTATGTGTCAATGTTTTATTTAACTCATTACTGAAGAAACCAGCAGGAAAATAAAAGAGCTAGTTCCATGAACATTTGAGAAATAGAGATGTATATAGTCAATGGGAAAAGAATGCCAAAATAAGATTATCAAGTTAAACATAACAGGAAATAAAACCATATCACCTTTGGGGTT... |
Task1_train_31803 | This variant affects the gene F8 (coagulation factor VIII) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Thrombophilia, X-linked, due to factor 8 defect | CAATTTAATCTGGTTTTCTAACTCACTAATTTGGTTTTCTAGAGTGTCCATCTTGCTATTCAGTGCCCCTATTTGTTTTAAAAATCAGTGTTCACATTTTTATTTCCAGTGTAAAAACACAATTCTCAAAGGCATTTGTTTGTATGTGTCAATGTTTTATTTAACTCATTACTGAAGAAACCAGCAGGAAAATAAAAGAGCTAGTTCCATGAACATTTGAGAAATAGAGATGTATATAGTCAATGGGAAAAGAATGCCAAAATAAGATTATCAAGTTAAACATAACAGGAAATAAAACCATATCACCTTTGGGGTTAACT... | CAATTTAATCTGGTTTTCTAACTCACTAATTTGGTTTTCTAGAGTGTCCATCTTGCTATTCAGTGCCCCTATTTGTTTTAAAAATCAGTGTTCACATTTTTATTTCCAGTGTAAAAACACAATTCTCAAAGGCATTTGTTTGTATGTGTCAATGTTTTATTTAACTCATTACTGAAGAAACCAGCAGGAAAATAAAAGAGCTAGTTCCATGAACATTTGAGAAATAGAGATGTATATAGTCAATGGGAAAAGAATGCCAAAATAAGATTATCAAGTTAAACATAACAGGAAATAAAACCATATCACCTTTGGGGTTAACT... |
Task1_train_31804 | This sequence change occurs on Chromosome X, altering F8 (coagulation factor VIII). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary factor VIII deficiency disease | CAATTTAATCTGGTTTTCTAACTCACTAATTTGGTTTTCTAGAGTGTCCATCTTGCTATTCAGTGCCCCTATTTGTTTTAAAAATCAGTGTTCACATTTTTATTTCCAGTGTAAAAACACAATTCTCAAAGGCATTTGTTTGTATGTGTCAATGTTTTATTTAACTCATTACTGAAGAAACCAGCAGGAAAATAAAAGAGCTAGTTCCATGAACATTTGAGAAATAGAGATGTATATAGTCAATGGGAAAAGAATGCCAAAATAAGATTATCAAGTTAAACATAACAGGAAATAAAACCATATCACCTTTGGGGTTAACT... | CAATTTAATCTGGTTTTCTAACTCACTAATTTGGTTTTCTAGAGTGTCCATCTTGCTATTCAGTGCCCCTATTTGTTTTAAAAATCAGTGTTCACATTTTTATTTCCAGTGTAAAAACACAATTCTCAAAGGCATTTGTTTGTATGTGTCAATGTTTTATTTAACTCATTACTGAAGAAACCAGCAGGAAAATAAAAGAGCTAGTTCCATGAACATTTGAGAAATAGAGATGTATATAGTCAATGGGAAAAGAATGCCAAAATAAGATTATCAAGTTAAACATAACAGGAAATAAAACCATATCACCTTTGGGGTTAACT... |
Task1_train_31805 | This variant lies on Chromosome X and affects the gene F8 (coagulation factor VIII). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hereditary factor VIII deficiency disease | ATTACATTGGAATATGTTCATCATGGAAGGGGCAGCGTTTTGTCCTTCCTGGAAGGAAACTGAACTACTGCTTCACAATGGAGGTATGGAAGAGTGTGTCTGGAATACAATAGATCCCTTAGAGTGTCTCTTAGTATTACCAGGCCCTATGATTCTGGTCAATGGGAAACTACAGCAACCCAATCCATGCAGGACTACTAGTGGCCCAGGCTCTTCAGGAATAAAGGTTTGGGTCACCTCATCAGGTAAAGAACCACAATCAGCTGAGATGCTTGCTGAAGGCAAAGTCAATACAGAATGGGTAGTAGAAGAAGGTAGTT... | ATTACATTGGAATATGTTCATCATGGAAGGGGCAGCGTTTTGTCCTTCCTGGAAGGAAACTGAACTACTGCTTCACAATGGAGGTATGGAAGAGTGTGTCTGGAATACAATAGATCCCTTAGAGTGTCTCTTAGTATTACCAGGCCCTATGATTCTGGTCAATGGGAAACTACAGCAACCCAATCCATGCAGGACTACTAGTGGCCCAGGCTCTTCAGGAATAAAGGTTTGGGTCACCTCATCAGGTAAAGAACCACAATCAGCTGAGATGCTTGCTGAAGGCAAAGTCAATACAGAATGGGTAGTAGAAGAAGGTAGTT... |
Task1_train_31806 | A genetic alteration is present in F8 (coagulation factor VIII) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary factor VIII deficiency disease | ACAATGGAGGTATGGAAGAGTGTGTCTGGAATACAATAGATCCCTTAGAGTGTCTCTTAGTATTACCAGGCCCTATGATTCTGGTCAATGGGAAACTACAGCAACCCAATCCATGCAGGACTACTAGTGGCCCAGGCTCTTCAGGAATAAAGGTTTGGGTCACCTCATCAGGTAAAGAACCACAATCAGCTGAGATGCTTGCTGAAGGCAAAGTCAATACAGAATGGGTAGTAGAAGAAGGTAGTTATCAATACCAGCCAAGTTTTGTTATATCATGTTAGGTGGAATTATGACCTCATTTTTGTCTCTACTTAGAGATA... | ACAATGGAGGTATGGAAGAGTGTGTCTGGAATACAATAGATCCCTTAGAGTGTCTCTTAGTATTACCAGGCCCTATGATTCTGGTCAATGGGAAACTACAGCAACCCAATCCATGCAGGACTACTAGTGGCCCAGGCTCTTCAGGAATAAAGGTTTGGGTCACCTCATCAGGTAAAGAACCACAATCAGCTGAGATGCTTGCTGAAGGCAAAGTCAATACAGAATGGGTAGTAGAAGAAGGTAGTTATCAATACCAGCCAAGTTTTGTTATATCATGTTAGGTGGAATTATGACCTCATTTTTGTCTCTACTTAGAGATA... |
Task1_train_31807 | An alteration has been detected in F8 (coagulation factor VIII) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | TCCCTTAGAGTGTCTCTTAGTATTACCAGGCCCTATGATTCTGGTCAATGGGAAACTACAGCAACCCAATCCATGCAGGACTACTAGTGGCCCAGGCTCTTCAGGAATAAAGGTTTGGGTCACCTCATCAGGTAAAGAACCACAATCAGCTGAGATGCTTGCTGAAGGCAAAGTCAATACAGAATGGGTAGTAGAAGAAGGTAGTTATCAATACCAGCCAAGTTTTGTTATATCATGTTAGGTGGAATTATGACCTCATTTTTGTCTCTACTTAGAGATAAAGGAGATGTGTATGATGGGTGCTACATTGACAAGGGGTG... | TCCCTTAGAGTGTCTCTTAGTATTACCAGGCCCTATGATTCTGGTCAATGGGAAACTACAGCAACCCAATCCATGCAGGACTACTAGTGGCCCAGGCTCTTCAGGAATAAAGGTTTGGGTCACCTCATCAGGTAAAGAACCACAATCAGCTGAGATGCTTGCTGAAGGCAAAGTCAATACAGAATGGGTAGTAGAAGAAGGTAGTTATCAATACCAGCCAAGTTTTGTTATATCATGTTAGGTGGAATTATGACCTCATTTTTGTCTCTACTTAGAGATAAAGGAGATGTGTATGATGGGTGCTACATTGACAAGGGGTG... |
Task1_train_31808 | A variant has been detected on Chromosome X in F8 (coagulation factor VIII). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary factor VIII deficiency disease | TGTCTCTTAGTATTACCAGGCCCTATGATTCTGGTCAATGGGAAACTACAGCAACCCAATCCATGCAGGACTACTAGTGGCCCAGGCTCTTCAGGAATAAAGGTTTGGGTCACCTCATCAGGTAAAGAACCACAATCAGCTGAGATGCTTGCTGAAGGCAAAGTCAATACAGAATGGGTAGTAGAAGAAGGTAGTTATCAATACCAGCCAAGTTTTGTTATATCATGTTAGGTGGAATTATGACCTCATTTTTGTCTCTACTTAGAGATAAAGGAGATGTGTATGATGGGTGCTACATTGACAAGGGGTGGACTTGTCAT... | TGTCTCTTAGTATTACCAGGCCCTATGATTCTGGTCAATGGGAAACTACAGCAACCCAATCCATGCAGGACTACTAGTGGCCCAGGCTCTTCAGGAATAAAGGTTTGGGTCACCTCATCAGGTAAAGAACCACAATCAGCTGAGATGCTTGCTGAAGGCAAAGTCAATACAGAATGGGTAGTAGAAGAAGGTAGTTATCAATACCAGCCAAGTTTTGTTATATCATGTTAGGTGGAATTATGACCTCATTTTTGTCTCTACTTAGAGATAAAGGAGATGTGTATGATGGGTGCTACATTGACAAGGGGTGGACTTGTCAT... |
Task1_train_31809 | The gene F8 (coagulation factor VIII) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hereditary factor IX deficiency disease | AGTTCACCAAACTGCCAGTTTGGTGAAGTCTTTCATCCAGCCTTGATGGATAAGGGAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAA... | AGTTCACCAAACTGCCAGTTTGGTGAAGTCTTTCATCCAGCCTTGATGGATAAGGGAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAA... |
Task1_train_31810 | This variant affects the gene F8 (coagulation factor VIII) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Abnormality of coagulation | GTTCACCAAACTGCCAGTTTGGTGAAGTCTTTCATCCAGCCTTGATGGATAAGGGAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAA... | GTTCACCAAACTGCCAGTTTGGTGAAGTCTTTCATCCAGCCTTGATGGATAAGGGAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAA... |
Task1_train_31811 | A mutation found in F8 (coagulation factor VIII) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary factor VIII deficiency disease | TCACCAAACTGCCAGTTTGGTGAAGTCTTTCATCCAGCCTTGATGGATAAGGGAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATA... | TCACCAAACTGCCAGTTTGGTGAAGTCTTTCATCCAGCCTTGATGGATAAGGGAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATA... |
Task1_train_31812 | The gene F8 (coagulation factor VIII) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hereditary factor VIII deficiency disease | TCACCAAACTGCCAGTTTGGTGAAGTCTTTCATCCAGCCTTGATGGATAAGGGAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATA... | TCACCAAACTGCCAGTTTGGTGAAGTCTTTCATCCAGCCTTGATGGATAAGGGAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATA... |
Task1_train_31813 | This is a variant in F8 (coagulation factor VIII), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary factor IX deficiency disease | TCACCAAACTGCCAGTTTGGTGAAGTCTTTCATCCAGCCTTGATGGATAAGGGAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATA... | TCACCAAACTGCCAGTTTGGTGAAGTCTTTCATCCAGCCTTGATGGATAAGGGAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATA... |
Task1_train_31814 | This variant impacts the gene F8 (coagulation factor VIII) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary factor VIII deficiency disease | CACCAAACTGCCAGTTTGGTGAAGTCTTTCATCCAGCCTTGATGGATAAGGGAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATAC... | CACCAAACTGCCAGTTTGGTGAAGTCTTTCATCCAGCCTTGATGGATAAGGGAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATAC... |
Task1_train_31815 | This genomic variant is located on Chromosome X, within the F8 (coagulation factor VIII) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary factor VIII deficiency disease | CAAACTGCCAGTTTGGTGAAGTCTTTCATCCAGCCTTGATGGATAAGGGAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATACCAA... | CAAACTGCCAGTTTGGTGAAGTCTTTCATCCAGCCTTGATGGATAAGGGAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATACCAA... |
Task1_train_31816 | Located on Chromosome X, this mutation impacts F8 (coagulation factor VIII). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hereditary factor VIII deficiency disease | GATAAGGGAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATACCAAAGAGAGGAACTATTCCTTCCCCCATTACTCATGGGGTGATA... | GATAAGGGAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATACCAAAGAGAGGAACTATTCCTTCCCCCATTACTCATGGGGTGATA... |
Task1_train_31817 | A genetic alteration is present in F8 (coagulation factor VIII) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary factor VIII deficiency disease | GAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATACCAAAGAGAGGAACTATTCCTTCCCCCATTACTCATGGGGTGATAAGACTTT... | GAATTCTTCTTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATACCAAAGAGAGGAACTATTCCTTCCCCCATTACTCATGGGGTGATAAGACTTT... |
Task1_train_31818 | The variant affects gene F8 (coagulation factor VIII), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary factor VIII deficiency disease | TTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATACCAAAGAGAGGAACTATTCCTTCCCCCATTACTCATGGGGTGATAAGACTTTATGTCATGT... | TTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATACCAAAGAGAGGAACTATTCCTTCCCCCATTACTCATGGGGTGATAAGACTTTATGTCATGT... |
Task1_train_31819 | This mutation is located in gene F8 (coagulation factor VIII) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Thrombophilia, X-linked, due to factor 8 defect | TTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATACCAAAGAGAGGAACTATTCCTTCCCCCATTACTCATGGGGTGATAAGACTTTATGTCATGT... | TTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATACCAAAGAGAGGAACTATTCCTTCCCCCATTACTCATGGGGTGATAAGACTTTATGTCATGT... |
Task1_train_31820 | Mutation context: Chromosome X, Gene F8 (coagulation factor VIII). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hereditary factor VIII deficiency disease | TTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATACCAAAGAGAGGAACTATTCCTTCCCCCATTACTCATGGGGTGATAAGACTTTATGTCATGT... | TTGGACATGATGTTTACCTGAGACTTAACGAATGAGTCAGGTGAAAGTGGCAGTAGAGGGTAGCTAGAAAAATGTTCCAGGTAGAAGAAATAGTATCTATTTAAAAGCCTGGTATGAGATATAATGGCTGTATTTAGTGACCTGAGAATTTCTTAGTATGGATGGAGCTTAAAGAGCCAAGTGGCAAGAGACTGTATTAGAGAGATTGGTAAGGACCACATCATGGTTAATTCTTGGTGAAAAAAGAATATAAAAAATACCAAAGAGAGGAACTATTCCTTCCCCCATTACTCATGGGGTGATAAGACTTTATGTCATGT... |
Task1_train_31821 | This is a variant in F8 (coagulation factor VIII), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary factor VIII deficiency disease | CTCTCTCTCTCTGCCTCTTTCAGACAGAGTCAGGCACTGTTGCCTGGGCTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATA... | CTCTCTCTCTCTGCCTCTTTCAGACAGAGTCAGGCACTGTTGCCTGGGCTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATA... |
Task1_train_31822 | Given a variant located on Chromosome X and affecting F8 (coagulation factor VIII), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hereditary factor VIII deficiency disease | TCTGCCTCTTTCAGACAGAGTCAGGCACTGTTGCCTGGGCTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGT... | TCTGCCTCTTTCAGACAGAGTCAGGCACTGTTGCCTGGGCTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGT... |
Task1_train_31823 | A variant has been detected on Chromosome X in F8 (coagulation factor VIII). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Thrombophilia, X-linked, due to factor 8 defect | CTGCCTCTTTCAGACAGAGTCAGGCACTGTTGCCTGGGCTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTG... | CTGCCTCTTTCAGACAGAGTCAGGCACTGTTGCCTGGGCTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTG... |
Task1_train_31824 | A mutation on Chromosome X affecting F8 (coagulation factor VIII) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary factor VIII deficiency disease | CTGCCTCTTTCAGACAGAGTCAGGCACTGTTGCCTGGGCTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTG... | CTGCCTCTTTCAGACAGAGTCAGGCACTGTTGCCTGGGCTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTG... |
Task1_train_31825 | A mutation found in F8 (coagulation factor VIII) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary factor VIII deficiency disease | GACAGAGTCAGGCACTGTTGCCTGGGCTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTGCAGTAAATGTTT... | GACAGAGTCAGGCACTGTTGCCTGGGCTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTGCAGTAAATGTTT... |
Task1_train_31826 | Given this variant in gene F8 (coagulation factor VIII) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary factor VIII deficiency disease | CTGTTGCCTGGGCTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTGCAGTAAATGTTTACTTTTCATTGATG... | CTGTTGCCTGGGCTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTGCAGTAAATGTTTACTTTTCATTGATG... |
Task1_train_31827 | A genetic alteration is present in F8 (coagulation factor VIII) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary factor VIII deficiency disease | TTGCCTGGGCTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTGCAGTAAATGTTTACTTTTCATTGATGTAA... | TTGCCTGGGCTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTGCAGTAAATGTTTACTTTTCATTGATGTAA... |
Task1_train_31828 | Here’s a variant in F8 (coagulation factor VIII) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary factor VIII deficiency disease | CTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTGCAGTAAATGTTTACTTTTCATTGATGTAATGAGAAACC... | CTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTGCAGTAAATGTTTACTTTTCATTGATGTAATGAGAAACC... |
Task1_train_31829 | Consider this mutation in F8 (coagulation factor VIII) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Hereditary factor IX deficiency disease | CTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTGCAGTAAATGTTTACTTTTCATTGATGTAATGAGAAACC... | CTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTGCAGTAAATGTTTACTTTTCATTGATGTAATGAGAAACC... |
Task1_train_31830 | Given a variant located on Chromosome X and affecting F8 (coagulation factor VIII), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hereditary factor VIII deficiency disease | CTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTGCAGTAAATGTTTACTTTTCATTGATGTAATGAGAAACC... | CTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTGCAGTAAATGTTTACTTTTCATTGATGTAATGAGAAACC... |
Task1_train_31831 | This alteration occurs within gene F8 (coagulation factor VIII) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Thrombophilia, X-linked, due to factor 8 defect | CTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTGCAGTAAATGTTTACTTTTCATTGATGTAATGAGAAACC... | CTGGAGTGCAATAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCATGCGATTATCCTGCCTCAGCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTGCAGTAAATGTTTACTTTTCATTGATGTAATGAGAAACC... |
Task1_train_31832 | This variant affects gene F8 (coagulation factor VIII) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary factor IX deficiency disease | GCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTGCAGTAAATGTTTACTTTTCATTGATGTAATGAGAAACCTGGAAAGAAAGCTAATTGTTGATATTTATCTGTAAAATGGACTTTAGCTTCTACAATTCTTTGACAGATATT... | GCAAAAGAGTGATCTAGAACTCCTGACCTTGTGATCGGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCCACTTTCTATTGGCTAGTCAGTCTCTCTTATTCAACTCTAAGCAACTTCAGGGCCAAAATTTTTCACAATTCACCTTTGTATCCCTAGGCTCATCCTAGGGATACTAAGATGTGCAGTAAATGTTTACTTTTCATTGATGTAATGAGAAACCTGGAAAGAAAGCTAATTGTTGATATTTATCTGTAAAATGGACTTTAGCTTCTACAATTCTTTGACAGATATT... |
Task1_train_31833 | This mutation is located in gene F8 (coagulation factor VIII) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary factor VIII deficiency disease | AAACTCAACCAATTGTCAACCAGAAAATGTTTAAATTCACCTATAGCCCGGAAGCCCCCAGGTTGAGTTGTCCCGCCTTTCTGGACCAAATCAGTGTATTTCTTAAATGTATTTGATTGATGTCTCAAGCCTCTCTAAAATGTATAAAACCAAGCTGTGCCCTGACCATCTTGGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCATGGGCCATACTCACTCATATTTGGCTCAGAATAAATCTCTTCAAATATTTTATAGAGTTCAACACTTTTTGTCAACAAAAGTGATGCTACATAACTTAGAAGACTCGGTCA... | AAACTCAACCAATTGTCAACCAGAAAATGTTTAAATTCACCTATAGCCCGGAAGCCCCCAGGTTGAGTTGTCCCGCCTTTCTGGACCAAATCAGTGTATTTCTTAAATGTATTTGATTGATGTCTCAAGCCTCTCTAAAATGTATAAAACCAAGCTGTGCCCTGACCATCTTGGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCATGGGCCATACTCACTCATATTTGGCTCAGAATAAATCTCTTCAAATATTTTATAGAGTTCAACACTTTTTGTCAACAAAAGTGATGCTACATAACTTAGAAGACTCGGTCA... |
Task1_train_31834 | This sequence variant lies in F8 (coagulation factor VIII) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary factor VIII deficiency disease | CAATTGTCAACCAGAAAATGTTTAAATTCACCTATAGCCCGGAAGCCCCCAGGTTGAGTTGTCCCGCCTTTCTGGACCAAATCAGTGTATTTCTTAAATGTATTTGATTGATGTCTCAAGCCTCTCTAAAATGTATAAAACCAAGCTGTGCCCTGACCATCTTGGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCATGGGCCATACTCACTCATATTTGGCTCAGAATAAATCTCTTCAAATATTTTATAGAGTTCAACACTTTTTGTCAACAAAAGTGATGCTACATAACTTAGAAGACTCGGTCAGAAAAGGTT... | CAATTGTCAACCAGAAAATGTTTAAATTCACCTATAGCCCGGAAGCCCCCAGGTTGAGTTGTCCCGCCTTTCTGGACCAAATCAGTGTATTTCTTAAATGTATTTGATTGATGTCTCAAGCCTCTCTAAAATGTATAAAACCAAGCTGTGCCCTGACCATCTTGGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCATGGGCCATACTCACTCATATTTGGCTCAGAATAAATCTCTTCAAATATTTTATAGAGTTCAACACTTTTTGTCAACAAAAGTGATGCTACATAACTTAGAAGACTCGGTCAGAAAAGGTT... |
Task1_train_31835 | An alteration has been detected in F8 (coagulation factor VIII) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary factor VIII deficiency disease | GCCCCCAGGTTGAGTTGTCCCGCCTTTCTGGACCAAATCAGTGTATTTCTTAAATGTATTTGATTGATGTCTCAAGCCTCTCTAAAATGTATAAAACCAAGCTGTGCCCTGACCATCTTGGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCATGGGCCATACTCACTCATATTTGGCTCAGAATAAATCTCTTCAAATATTTTATAGAGTTCAACACTTTTTGTCAACAAAAGTGATGCTACATAACTTAGAAGACTCGGTCAGAAAAGGTTATGTAGTCTTCACCTTGTTAACTGTAACACTCACACTTGGAGGC... | GCCCCCAGGTTGAGTTGTCCCGCCTTTCTGGACCAAATCAGTGTATTTCTTAAATGTATTTGATTGATGTCTCAAGCCTCTCTAAAATGTATAAAACCAAGCTGTGCCCTGACCATCTTGGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCATGGGCCATACTCACTCATATTTGGCTCAGAATAAATCTCTTCAAATATTTTATAGAGTTCAACACTTTTTGTCAACAAAAGTGATGCTACATAACTTAGAAGACTCGGTCAGAAAAGGTTATGTAGTCTTCACCTTGTTAACTGTAACACTCACACTTGGAGGC... |
Task1_train_31836 | This sequence variant lies in F8 (coagulation factor VIII) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary factor VIII deficiency disease | TGTATTTCTTAAATGTATTTGATTGATGTCTCAAGCCTCTCTAAAATGTATAAAACCAAGCTGTGCCCTGACCATCTTGGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCATGGGCCATACTCACTCATATTTGGCTCAGAATAAATCTCTTCAAATATTTTATAGAGTTCAACACTTTTTGTCAACAAAAGTGATGCTACATAACTTAGAAGACTCGGTCAGAAAAGGTTATGTAGTCTTCACCTTGTTAACTGTAACACTCACACTTGGAGGCCCTAAAATGACGTGTAAGAAGTCCAACTACAGGCCGGGTGC... | TGTATTTCTTAAATGTATTTGATTGATGTCTCAAGCCTCTCTAAAATGTATAAAACCAAGCTGTGCCCTGACCATCTTGGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCATGGGCCATACTCACTCATATTTGGCTCAGAATAAATCTCTTCAAATATTTTATAGAGTTCAACACTTTTTGTCAACAAAAGTGATGCTACATAACTTAGAAGACTCGGTCAGAAAAGGTTATGTAGTCTTCACCTTGTTAACTGTAACACTCACACTTGGAGGCCCTAAAATGACGTGTAAGAAGTCCAACTACAGGCCGGGTGC... |
Task1_train_31837 | Mutation context: Chromosome X, Gene F8 (coagulation factor VIII). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hereditary factor VIII deficiency disease | TAAAATGTATAAAACCAAGCTGTGCCCTGACCATCTTGGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCATGGGCCATACTCACTCATATTTGGCTCAGAATAAATCTCTTCAAATATTTTATAGAGTTCAACACTTTTTGTCAACAAAAGTGATGCTACATAACTTAGAAGACTCGGTCAGAAAAGGTTATGTAGTCTTCACCTTGTTAACTGTAACACTCACACTTGGAGGCCCTAAAATGACGTGTAAGAAGTCCAACTACAGGCCGGGTGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCA... | TAAAATGTATAAAACCAAGCTGTGCCCTGACCATCTTGGGCACATGTTCTCAGGACCTCCTGAGGGCTGTGTCATGGGCCATACTCACTCATATTTGGCTCAGAATAAATCTCTTCAAATATTTTATAGAGTTCAACACTTTTTGTCAACAAAAGTGATGCTACATAACTTAGAAGACTCGGTCAGAAAAGGTTATGTAGTCTTCACCTTGTTAACTGTAACACTCACACTTGGAGGCCCTAAAATGACGTGTAAGAAGTCCAACTACAGGCCGGGTGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCA... |
Task1_train_31838 | A sequence alteration has been identified in F8 (coagulation factor VIII) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Hereditary factor VIII deficiency disease | GCCTACCTACATTCTGCAACTGACAAATGCTTGACAACTGATGAATGCTTGACAAACTGCCAGGCTTATCCACTTCATCTTCTTGTGCCTCTTCTACATTATAATTGGCACCTGGGAGCAGTTTGACAATTACAGACTCAACAGCTTCACCTATGTGCCCAGCCAGGTGTTTCAGTGTAACTACAAGACACATCTCTCTACTAGGAAGTAAGCAAGGTGGTAATGAGTTTCACTGTATAAAAGTACAAACACTGCAGCTGCGTATCTCCATGGGGCCTGCTGACTTCCCCCTGTGCATTGCCTGGTCTTGGTCACCTGGT... | GCCTACCTACATTCTGCAACTGACAAATGCTTGACAACTGATGAATGCTTGACAAACTGCCAGGCTTATCCACTTCATCTTCTTGTGCCTCTTCTACATTATAATTGGCACCTGGGAGCAGTTTGACAATTACAGACTCAACAGCTTCACCTATGTGCCCAGCCAGGTGTTTCAGTGTAACTACAAGACACATCTCTCTACTAGGAAGTAAGCAAGGTGGTAATGAGTTTCACTGTATAAAAGTACAAACACTGCAGCTGCGTATCTCCATGGGGCCTGCTGACTTCCCCCTGTGCATTGCCTGGTCTTGGTCACCTGGT... |
Task1_train_31839 | A mutation on Chromosome X affecting F8 (coagulation factor VIII) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary factor VIII deficiency disease | CACTTCATCTTCTTGTGCCTCTTCTACATTATAATTGGCACCTGGGAGCAGTTTGACAATTACAGACTCAACAGCTTCACCTATGTGCCCAGCCAGGTGTTTCAGTGTAACTACAAGACACATCTCTCTACTAGGAAGTAAGCAAGGTGGTAATGAGTTTCACTGTATAAAAGTACAAACACTGCAGCTGCGTATCTCCATGGGGCCTGCTGACTTCCCCCTGTGCATTGCCTGGTCTTGGTCACCTGGTGCTCCTCAAGCCAGCCCAGTGCTCTTGTGTCTTGGGGCCAGGCTGTTGTGCACTCTTCAGGCCTTCTCAC... | CACTTCATCTTCTTGTGCCTCTTCTACATTATAATTGGCACCTGGGAGCAGTTTGACAATTACAGACTCAACAGCTTCACCTATGTGCCCAGCCAGGTGTTTCAGTGTAACTACAAGACACATCTCTCTACTAGGAAGTAAGCAAGGTGGTAATGAGTTTCACTGTATAAAAGTACAAACACTGCAGCTGCGTATCTCCATGGGGCCTGCTGACTTCCCCCTGTGCATTGCCTGGTCTTGGTCACCTGGTGCTCCTCAAGCCAGCCCAGTGCTCTTGTGTCTTGGGGCCAGGCTGTTGTGCACTCTTCAGGCCTTCTCAC... |
Task1_train_31840 | A mutation on Chromosome X affecting F8 (coagulation factor VIII) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary factor VIII deficiency disease | CTTGAGAATAAAATTATTGTCTTGAGAAAGGTTAATCTAAGCTGTGGTGAAAATAGAGAAAAACATAAAGGCTTTATGGCATACCAGTATCAATTACTATCTAAGGATATTGCTTATCCTTGTTGTCCATTTTATTTTCTAAAATTTATAATTTTGTTAATTGTTAGCACCTCTAACTAGCTGATACTGCAATTTGTTACCAACACTACCAAATAATAATATTATTTCTTCTTTTCTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTC... | CTTGAGAATAAAATTATTGTCTTGAGAAAGGTTAATCTAAGCTGTGGTGAAAATAGAGAAAAACATAAAGGCTTTATGGCATACCAGTATCAATTACTATCTAAGGATATTGCTTATCCTTGTTGTCCATTTTATTTTCTAAAATTTATAATTTTGTTAATTGTTAGCACCTCTAACTAGCTGATACTGCAATTTGTTACCAACACTACCAAATAATAATATTATTTCTTCTTTTCTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTC... |
Task1_train_31841 | Gene F8 (coagulation factor VIII) 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 | AAAATTATTGTCTTGAGAAAGGTTAATCTAAGCTGTGGTGAAAATAGAGAAAAACATAAAGGCTTTATGGCATACCAGTATCAATTACTATCTAAGGATATTGCTTATCCTTGTTGTCCATTTTATTTTCTAAAATTTATAATTTTGTTAATTGTTAGCACCTCTAACTAGCTGATACTGCAATTTGTTACCAACACTACCAAATAATAATATTATTTCTTCTTTTCTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCA... | AAAATTATTGTCTTGAGAAAGGTTAATCTAAGCTGTGGTGAAAATAGAGAAAAACATAAAGGCTTTATGGCATACCAGTATCAATTACTATCTAAGGATATTGCTTATCCTTGTTGTCCATTTTATTTTCTAAAATTTATAATTTTGTTAATTGTTAGCACCTCTAACTAGCTGATACTGCAATTTGTTACCAACACTACCAAATAATAATATTATTTCTTCTTTTCTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCA... |
Task1_train_31842 | A mutation found in F8 (coagulation factor VIII) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary factor VIII deficiency disease | AAAATTATTGTCTTGAGAAAGGTTAATCTAAGCTGTGGTGAAAATAGAGAAAAACATAAAGGCTTTATGGCATACCAGTATCAATTACTATCTAAGGATATTGCTTATCCTTGTTGTCCATTTTATTTTCTAAAATTTATAATTTTGTTAATTGTTAGCACCTCTAACTAGCTGATACTGCAATTTGTTACCAACACTACCAAATAATAATATTATTTCTTCTTTTCTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCA... | AAAATTATTGTCTTGAGAAAGGTTAATCTAAGCTGTGGTGAAAATAGAGAAAAACATAAAGGCTTTATGGCATACCAGTATCAATTACTATCTAAGGATATTGCTTATCCTTGTTGTCCATTTTATTTTCTAAAATTTATAATTTTGTTAATTGTTAGCACCTCTAACTAGCTGATACTGCAATTTGTTACCAACACTACCAAATAATAATATTATTTCTTCTTTTCTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCA... |
Task1_train_31843 | A mutation found in F8 (coagulation factor VIII) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | AAATTATTGTCTTGAGAAAGGTTAATCTAAGCTGTGGTGAAAATAGAGAAAAACATAAAGGCTTTATGGCATACCAGTATCAATTACTATCTAAGGATATTGCTTATCCTTGTTGTCCATTTTATTTTCTAAAATTTATAATTTTGTTAATTGTTAGCACCTCTAACTAGCTGATACTGCAATTTGTTACCAACACTACCAAATAATAATATTATTTCTTCTTTTCTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCAA... | AAATTATTGTCTTGAGAAAGGTTAATCTAAGCTGTGGTGAAAATAGAGAAAAACATAAAGGCTTTATGGCATACCAGTATCAATTACTATCTAAGGATATTGCTTATCCTTGTTGTCCATTTTATTTTCTAAAATTTATAATTTTGTTAATTGTTAGCACCTCTAACTAGCTGATACTGCAATTTGTTACCAACACTACCAAATAATAATATTATTTCTTCTTTTCTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCAA... |
Task1_train_31844 | A mutation on Chromosome X affecting F8 (coagulation factor VIII) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary factor IX deficiency disease | TTAATCTAAGCTGTGGTGAAAATAGAGAAAAACATAAAGGCTTTATGGCATACCAGTATCAATTACTATCTAAGGATATTGCTTATCCTTGTTGTCCATTTTATTTTCTAAAATTTATAATTTTGTTAATTGTTAGCACCTCTAACTAGCTGATACTGCAATTTGTTACCAACACTACCAAATAATAATATTATTTCTTCTTTTCTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGTCT... | TTAATCTAAGCTGTGGTGAAAATAGAGAAAAACATAAAGGCTTTATGGCATACCAGTATCAATTACTATCTAAGGATATTGCTTATCCTTGTTGTCCATTTTATTTTCTAAAATTTATAATTTTGTTAATTGTTAGCACCTCTAACTAGCTGATACTGCAATTTGTTACCAACACTACCAAATAATAATATTATTTCTTCTTTTCTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGTCT... |
Task1_train_31845 | This gene mutation involves F8 (coagulation factor VIII) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Thrombophilia, X-linked, due to factor 8 defect | GTGAAAATAGAGAAAAACATAAAGGCTTTATGGCATACCAGTATCAATTACTATCTAAGGATATTGCTTATCCTTGTTGTCCATTTTATTTTCTAAAATTTATAATTTTGTTAATTGTTAGCACCTCTAACTAGCTGATACTGCAATTTGTTACCAACACTACCAAATAATAATATTATTTCTTCTTTTCTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGTCTCCTAGGTAGCTGGGA... | GTGAAAATAGAGAAAAACATAAAGGCTTTATGGCATACCAGTATCAATTACTATCTAAGGATATTGCTTATCCTTGTTGTCCATTTTATTTTCTAAAATTTATAATTTTGTTAATTGTTAGCACCTCTAACTAGCTGATACTGCAATTTGTTACCAACACTACCAAATAATAATATTATTTCTTCTTTTCTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGTCTCCTAGGTAGCTGGGA... |
Task1_train_31846 | This variant impacts the gene F8 (coagulation factor VIII) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary factor VIII deficiency disease | AAGGCTTTATGGCATACCAGTATCAATTACTATCTAAGGATATTGCTTATCCTTGTTGTCCATTTTATTTTCTAAAATTTATAATTTTGTTAATTGTTAGCACCTCTAACTAGCTGATACTGCAATTTGTTACCAACACTACCAAATAATAATATTATTTCTTCTTTTCTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGTCTCCTAGGTAGCTGGGACTACAATCGCGTACCACCATG... | AAGGCTTTATGGCATACCAGTATCAATTACTATCTAAGGATATTGCTTATCCTTGTTGTCCATTTTATTTTCTAAAATTTATAATTTTGTTAATTGTTAGCACCTCTAACTAGCTGATACTGCAATTTGTTACCAACACTACCAAATAATAATATTATTTCTTCTTTTCTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGTCTCCTAGGTAGCTGGGACTACAATCGCGTACCACCATG... |
Task1_train_31847 | A mutation on Chromosome X affecting F8 (coagulation factor VIII) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary factor VIII deficiency disease | TATCCTTGTTGTCCATTTTATTTTCTAAAATTTATAATTTTGTTAATTGTTAGCACCTCTAACTAGCTGATACTGCAATTTGTTACCAACACTACCAAATAATAATATTATTTCTTCTTTTCTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGTCTCCTAGGTAGCTGGGACTACAATCGCGTACCACCATGCCCGACTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTT... | TATCCTTGTTGTCCATTTTATTTTCTAAAATTTATAATTTTGTTAATTGTTAGCACCTCTAACTAGCTGATACTGCAATTTGTTACCAACACTACCAAATAATAATATTATTTCTTCTTTTCTTTCTTTTTTTGAGATGGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGTCTCCTAGGTAGCTGGGACTACAATCGCGTACCACCATGCCCGACTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTT... |
Task1_train_31848 | This alteration occurs within gene F8 (coagulation factor VIII) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; not specified | CTGCCCTACTCTGAGAACTCTGATGATTTCTACCAGCAATATTCATTTTAAATTTGATAATGATGTAAACTTGTATTTATTTCCTGACACAAGCAACCATTCCAGAAAGGAAGAAAGCTGTAAAGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTT... | CTGCCCTACTCTGAGAACTCTGATGATTTCTACCAGCAATATTCATTTTAAATTTGATAATGATGTAAACTTGTATTTATTTCCTGACACAAGCAACCATTCCAGAAAGGAAGAAAGCTGTAAAGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTT... |
Task1_train_31849 | Consider a variant on Chromosome X in gene F8 (coagulation factor VIII). Determine its clinical classification and disease relevance. | Pathogenic; Thrombophilia, X-linked, due to factor 8 defect | CTGCCCTACTCTGAGAACTCTGATGATTTCTACCAGCAATATTCATTTTAAATTTGATAATGATGTAAACTTGTATTTATTTCCTGACACAAGCAACCATTCCAGAAAGGAAGAAAGCTGTAAAGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTT... | CTGCCCTACTCTGAGAACTCTGATGATTTCTACCAGCAATATTCATTTTAAATTTGATAATGATGTAAACTTGTATTTATTTCCTGACACAAGCAACCATTCCAGAAAGGAAGAAAGCTGTAAAGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTT... |
Task1_train_31850 | This is a variant in F8 (coagulation factor VIII), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary factor VIII deficiency disease | ATATTCATTTTAAATTTGATAATGATGTAAACTTGTATTTATTTCCTGACACAAGCAACCATTCCAGAAAGGAAGAAAGCTGTAAAGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTA... | ATATTCATTTTAAATTTGATAATGATGTAAACTTGTATTTATTTCCTGACACAAGCAACCATTCCAGAAAGGAAGAAAGCTGTAAAGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTA... |
Task1_train_31851 | This sequence change occurs on Chromosome X, altering F8 (coagulation factor VIII). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary factor VIII deficiency disease | ATTCATTTTAAATTTGATAATGATGTAAACTTGTATTTATTTCCTGACACAAGCAACCATTCCAGAAAGGAAGAAAGCTGTAAAGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTATG... | ATTCATTTTAAATTTGATAATGATGTAAACTTGTATTTATTTCCTGACACAAGCAACCATTCCAGAAAGGAAGAAAGCTGTAAAGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTATG... |
Task1_train_31852 | This variant lies on Chromosome X and affects the gene F8 (coagulation factor VIII). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hereditary factor IX deficiency disease | AATGATGTAAACTTGTATTTATTTCCTGACACAAGCAACCATTCCAGAAAGGAAGAAAGCTGTAAAGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTATGCGAAATATCAGAGTAGAC... | AATGATGTAAACTTGTATTTATTTCCTGACACAAGCAACCATTCCAGAAAGGAAGAAAGCTGTAAAGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTATGCGAAATATCAGAGTAGAC... |
Task1_train_31853 | Gene F8 (coagulation factor VIII) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary factor VIII deficiency disease | TTATTTCCTGACACAAGCAACCATTCCAGAAAGGAAGAAAGCTGTAAAGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTATGCGAAATATCAGAGTAGACCTACCAAATTTGGTAGTT... | TTATTTCCTGACACAAGCAACCATTCCAGAAAGGAAGAAAGCTGTAAAGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTATGCGAAATATCAGAGTAGACCTACCAAATTTGGTAGTT... |
Task1_train_31854 | The gene F8 (coagulation factor VIII), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary factor VIII deficiency disease | CATTCCAGAAAGGAAGAAAGCTGTAAAGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTATGCGAAATATCAGAGTAGACCTACCAAATTTGGTAGTTCCACTACTTTTGGACCCCTCA... | CATTCCAGAAAGGAAGAAAGCTGTAAAGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTATGCGAAATATCAGAGTAGACCTACCAAATTTGGTAGTTCCACTACTTTTGGACCCCTCA... |
Task1_train_31855 | A genetic alteration is present in F8 (coagulation factor VIII) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary factor VIII deficiency disease | AAAGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTATGCGAAATATCAGAGTAGACCTACCAAATTTGGTAGTTCCACTACTTTTGGACCCCTCAAATGCAAAGTGCTTGCTACGTGAC... | AAAGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTATGCGAAATATCAGAGTAGACCTACCAAATTTGGTAGTTCCACTACTTTTGGACCCCTCAAATGCAAAGTGCTTGCTACGTGAC... |
Task1_train_31856 | An alteration has been detected in F8 (coagulation factor VIII) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary factor VIII deficiency disease | AGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTATGCGAAATATCAGAGTAGACCTACCAAATTTGGTAGTTCCACTACTTTTGGACCCCTCAAATGCAAAGTGCTTGCTACGTGACCC... | AGAAGTAGGCTGAGTAGGTAGGGAACCTCTGCCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTATGCGAAATATCAGAGTAGACCTACCAAATTTGGTAGTTCCACTACTTTTGGACCCCTCAAATGCAAAGTGCTTGCTACGTGACCC... |
Task1_train_31857 | The gene F8 (coagulation factor VIII), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary factor VIII deficiency disease | CCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTATGCGAAATATCAGAGTAGACCTACCAAATTTGGTAGTTCCACTACTTTTGGACCCCTCAAATGCAAAGTGCTTGCTACGTGACCCTTACAGTTGGGGGTTGTGGAGATTGAGTTCT... | CCCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTATGCGAAATATCAGAGTAGACCTACCAAATTTGGTAGTTCCACTACTTTTGGACCCCTCAAATGCAAAGTGCTTGCTACGTGACCCTTACAGTTGGGGGTTGTGGAGATTGAGTTCT... |
Task1_train_31858 | A variant has been detected on Chromosome X in F8 (coagulation factor VIII). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary factor VIII deficiency disease | CCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTATGCGAAATATCAGAGTAGACCTACCAAATTTGGTAGTTCCACTACTTTTGGACCCCTCAAATGCAAAGTGCTTGCTACGTGACCCTTACAGTTGGGGGTTGTGGAGATTGAGTTCTG... | CCACATTGCTACTCACTATTGCTGTACACCAGAAAAAGTGTGCTCATCCCAGCATGTAGATGCTCGCCAATAAGGCATTCCACCCGCCAAATTCCAGCTTTGGATGGTAACATTTCCACTGTCTCAAAAACACCTTATAAAAACCAACAGGAACAGAAATTATTTCTTTTCACTAAAAAATGAGCATGAGATACATTGGTTTATGCGAAATATCAGAGTAGACCTACCAAATTTGGTAGTTCCACTACTTTTGGACCCCTCAAATGCAAAGTGCTTGCTACGTGACCCTTACAGTTGGGGGTTGTGGAGATTGAGTTCTG... |
Task1_train_31859 | A variant was discovered on Chromosome X, affecting F8 (coagulation factor VIII). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Thrombophilia, X-linked, due to factor 8 defect | CCTACCAAATTTGGTAGTTCCACTACTTTTGGACCCCTCAAATGCAAAGTGCTTGCTACGTGACCCTTACAGTTGGGGGTTGTGGAGATTGAGTTCTGACCACTCCCCTCCCCCCAGGAGATGAGAAACAGGGTGACTGAATTCTTTGATGGTTGGGACAGGAGAATGCTACTGCATTATGATTGACCTACATTCCCAGGGTCTTTCTGAGCAAAAGGTGTGTTTCCCATTGGCCAGATGTGGACTCTGTGAAACAGATAAGTCAGGGTGAGTTCCCTCTGGATCCAGTCCACTAGAGCTGCCTACAAGGGTAAAGTTAC... | CCTACCAAATTTGGTAGTTCCACTACTTTTGGACCCCTCAAATGCAAAGTGCTTGCTACGTGACCCTTACAGTTGGGGGTTGTGGAGATTGAGTTCTGACCACTCCCCTCCCCCCAGGAGATGAGAAACAGGGTGACTGAATTCTTTGATGGTTGGGACAGGAGAATGCTACTGCATTATGATTGACCTACATTCCCAGGGTCTTTCTGAGCAAAAGGTGTGTTTCCCATTGGCCAGATGTGGACTCTGTGAAACAGATAAGTCAGGGTGAGTTCCCTCTGGATCCAGTCCACTAGAGCTGCCTACAAGGGTAAAGTTAC... |
Task1_train_31860 | A variant was discovered on Chromosome X, affecting F8 (coagulation factor VIII). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hereditary factor VIII deficiency disease | TGACCACTCCCCTCCCCCCAGGAGATGAGAAACAGGGTGACTGAATTCTTTGATGGTTGGGACAGGAGAATGCTACTGCATTATGATTGACCTACATTCCCAGGGTCTTTCTGAGCAAAAGGTGTGTTTCCCATTGGCCAGATGTGGACTCTGTGAAACAGATAAGTCAGGGTGAGTTCCCTCTGGATCCAGTCCACTAGAGCTGCCTACAAGGGTAAAGTTACCCCAGCAACAAGAAGCTGCAGGTGAACACTGAGGGCTGAGAAATGAGTCACAAGTGACCACCCAGAGTAAAGGTGGAAGAAATCATGTCAAGGGGA... | TGACCACTCCCCTCCCCCCAGGAGATGAGAAACAGGGTGACTGAATTCTTTGATGGTTGGGACAGGAGAATGCTACTGCATTATGATTGACCTACATTCCCAGGGTCTTTCTGAGCAAAAGGTGTGTTTCCCATTGGCCAGATGTGGACTCTGTGAAACAGATAAGTCAGGGTGAGTTCCCTCTGGATCCAGTCCACTAGAGCTGCCTACAAGGGTAAAGTTACCCCAGCAACAAGAAGCTGCAGGTGAACACTGAGGGCTGAGAAATGAGTCACAAGTGACCACCCAGAGTAAAGGTGGAAGAAATCATGTCAAGGGGA... |
Task1_train_31861 | Here is a genetic alteration in F8 (coagulation factor VIII) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary factor VIII deficiency disease | TACATTCCCAGGGTCTTTCTGAGCAAAAGGTGTGTTTCCCATTGGCCAGATGTGGACTCTGTGAAACAGATAAGTCAGGGTGAGTTCCCTCTGGATCCAGTCCACTAGAGCTGCCTACAAGGGTAAAGTTACCCCAGCAACAAGAAGCTGCAGGTGAACACTGAGGGCTGAGAAATGAGTCACAAGTGACCACCCAGAGTAAAGGTGGAAGAAATCATGTCAAGGGGATTTCATGACAGTCACGTAAGGGAGTCTCTAAAGAGTTCCCTGAAAGTGCCCTGCAGGAGAAAGAGTCAACAAGTATTGCCAGGCACAAACAG... | TACATTCCCAGGGTCTTTCTGAGCAAAAGGTGTGTTTCCCATTGGCCAGATGTGGACTCTGTGAAACAGATAAGTCAGGGTGAGTTCCCTCTGGATCCAGTCCACTAGAGCTGCCTACAAGGGTAAAGTTACCCCAGCAACAAGAAGCTGCAGGTGAACACTGAGGGCTGAGAAATGAGTCACAAGTGACCACCCAGAGTAAAGGTGGAAGAAATCATGTCAAGGGGATTTCATGACAGTCACGTAAGGGAGTCTCTAAAGAGTTCCCTGAAAGTGCCCTGCAGGAGAAAGAGTCAACAAGTATTGCCAGGCACAAACAG... |
Task1_train_31862 | The gene F8 (coagulation factor VIII) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | TCTTTCTGAGCAAAAGGTGTGTTTCCCATTGGCCAGATGTGGACTCTGTGAAACAGATAAGTCAGGGTGAGTTCCCTCTGGATCCAGTCCACTAGAGCTGCCTACAAGGGTAAAGTTACCCCAGCAACAAGAAGCTGCAGGTGAACACTGAGGGCTGAGAAATGAGTCACAAGTGACCACCCAGAGTAAAGGTGGAAGAAATCATGTCAAGGGGATTTCATGACAGTCACGTAAGGGAGTCTCTAAAGAGTTCCCTGAAAGTGCCCTGCAGGAGAAAGAGTCAACAAGTATTGCCAGGCACAAACAGTGTTAAGCTAGTT... | TCTTTCTGAGCAAAAGGTGTGTTTCCCATTGGCCAGATGTGGACTCTGTGAAACAGATAAGTCAGGGTGAGTTCCCTCTGGATCCAGTCCACTAGAGCTGCCTACAAGGGTAAAGTTACCCCAGCAACAAGAAGCTGCAGGTGAACACTGAGGGCTGAGAAATGAGTCACAAGTGACCACCCAGAGTAAAGGTGGAAGAAATCATGTCAAGGGGATTTCATGACAGTCACGTAAGGGAGTCTCTAAAGAGTTCCCTGAAAGTGCCCTGCAGGAGAAAGAGTCAACAAGTATTGCCAGGCACAAACAGTGTTAAGCTAGTT... |
Task1_train_31863 | A variant has been detected on Chromosome X in F8 (coagulation factor VIII). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | CTGAGCAAAAGGTGTGTTTCCCATTGGCCAGATGTGGACTCTGTGAAACAGATAAGTCAGGGTGAGTTCCCTCTGGATCCAGTCCACTAGAGCTGCCTACAAGGGTAAAGTTACCCCAGCAACAAGAAGCTGCAGGTGAACACTGAGGGCTGAGAAATGAGTCACAAGTGACCACCCAGAGTAAAGGTGGAAGAAATCATGTCAAGGGGATTTCATGACAGTCACGTAAGGGAGTCTCTAAAGAGTTCCCTGAAAGTGCCCTGCAGGAGAAAGAGTCAACAAGTATTGCCAGGCACAAACAGTGTTAAGCTAGTTTACAA... | CTGAGCAAAAGGTGTGTTTCCCATTGGCCAGATGTGGACTCTGTGAAACAGATAAGTCAGGGTGAGTTCCCTCTGGATCCAGTCCACTAGAGCTGCCTACAAGGGTAAAGTTACCCCAGCAACAAGAAGCTGCAGGTGAACACTGAGGGCTGAGAAATGAGTCACAAGTGACCACCCAGAGTAAAGGTGGAAGAAATCATGTCAAGGGGATTTCATGACAGTCACGTAAGGGAGTCTCTAAAGAGTTCCCTGAAAGTGCCCTGCAGGAGAAAGAGTCAACAAGTATTGCCAGGCACAAACAGTGTTAAGCTAGTTTACAA... |
Task1_train_31864 | Given this variant in gene F8 (coagulation factor VIII) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary factor VIII deficiency disease | AAAGGTGTGTTTCCCATTGGCCAGATGTGGACTCTGTGAAACAGATAAGTCAGGGTGAGTTCCCTCTGGATCCAGTCCACTAGAGCTGCCTACAAGGGTAAAGTTACCCCAGCAACAAGAAGCTGCAGGTGAACACTGAGGGCTGAGAAATGAGTCACAAGTGACCACCCAGAGTAAAGGTGGAAGAAATCATGTCAAGGGGATTTCATGACAGTCACGTAAGGGAGTCTCTAAAGAGTTCCCTGAAAGTGCCCTGCAGGAGAAAGAGTCAACAAGTATTGCCAGGCACAAACAGTGTTAAGCTAGTTTACAACAATGGT... | AAAGGTGTGTTTCCCATTGGCCAGATGTGGACTCTGTGAAACAGATAAGTCAGGGTGAGTTCCCTCTGGATCCAGTCCACTAGAGCTGCCTACAAGGGTAAAGTTACCCCAGCAACAAGAAGCTGCAGGTGAACACTGAGGGCTGAGAAATGAGTCACAAGTGACCACCCAGAGTAAAGGTGGAAGAAATCATGTCAAGGGGATTTCATGACAGTCACGTAAGGGAGTCTCTAAAGAGTTCCCTGAAAGTGCCCTGCAGGAGAAAGAGTCAACAAGTATTGCCAGGCACAAACAGTGTTAAGCTAGTTTACAACAATGGT... |
Task1_train_31865 | A mutation on Chromosome X affecting F8 (coagulation factor VIII) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary factor VIII deficiency disease | AAAGGTGTGTTTCCCATTGGCCAGATGTGGACTCTGTGAAACAGATAAGTCAGGGTGAGTTCCCTCTGGATCCAGTCCACTAGAGCTGCCTACAAGGGTAAAGTTACCCCAGCAACAAGAAGCTGCAGGTGAACACTGAGGGCTGAGAAATGAGTCACAAGTGACCACCCAGAGTAAAGGTGGAAGAAATCATGTCAAGGGGATTTCATGACAGTCACGTAAGGGAGTCTCTAAAGAGTTCCCTGAAAGTGCCCTGCAGGAGAAAGAGTCAACAAGTATTGCCAGGCACAAACAGTGTTAAGCTAGTTTACAACAATGGT... | AAAGGTGTGTTTCCCATTGGCCAGATGTGGACTCTGTGAAACAGATAAGTCAGGGTGAGTTCCCTCTGGATCCAGTCCACTAGAGCTGCCTACAAGGGTAAAGTTACCCCAGCAACAAGAAGCTGCAGGTGAACACTGAGGGCTGAGAAATGAGTCACAAGTGACCACCCAGAGTAAAGGTGGAAGAAATCATGTCAAGGGGATTTCATGACAGTCACGTAAGGGAGTCTCTAAAGAGTTCCCTGAAAGTGCCCTGCAGGAGAAAGAGTCAACAAGTATTGCCAGGCACAAACAGTGTTAAGCTAGTTTACAACAATGGT... |
Task1_train_31866 | A variant was discovered on Chromosome X, affecting F8 (coagulation factor VIII). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hereditary factor VIII deficiency disease | CCAGCTGTAAATAGGTAAGAACTATCTTATCCCCTTACCTTTAACCTATCCATGTTGGAGTTCAAAACAGCAGCTATAAAGGGGTTGTGGGGAAGCACGATCATCACAAGGTACAGAAACAGAGGACTCAACCATGTCTCCCTTTTCCAATGCAGACTTCCAGCCTGATGCAGGCTCAAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAA... | CCAGCTGTAAATAGGTAAGAACTATCTTATCCCCTTACCTTTAACCTATCCATGTTGGAGTTCAAAACAGCAGCTATAAAGGGGTTGTGGGGAAGCACGATCATCACAAGGTACAGAAACAGAGGACTCAACCATGTCTCCCTTTTCCAATGCAGACTTCCAGCCTGATGCAGGCTCAAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAA... |
Task1_train_31867 | A genomic change on Chromosome X affects F8 (coagulation factor VIII). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary factor VIII deficiency disease | CTTATCCCCTTACCTTTAACCTATCCATGTTGGAGTTCAAAACAGCAGCTATAAAGGGGTTGTGGGGAAGCACGATCATCACAAGGTACAGAAACAGAGGACTCAACCATGTCTCCCTTTTCCAATGCAGACTTCCAGCCTGATGCAGGCTCAAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAAAAGTTACAGGGCTTATCAGAATTTT... | CTTATCCCCTTACCTTTAACCTATCCATGTTGGAGTTCAAAACAGCAGCTATAAAGGGGTTGTGGGGAAGCACGATCATCACAAGGTACAGAAACAGAGGACTCAACCATGTCTCCCTTTTCCAATGCAGACTTCCAGCCTGATGCAGGCTCAAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAAAAGTTACAGGGCTTATCAGAATTTT... |
Task1_train_31868 | A variant has been detected on Chromosome X in F8 (coagulation factor VIII). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary factor VIII deficiency disease | CCTTACCTTTAACCTATCCATGTTGGAGTTCAAAACAGCAGCTATAAAGGGGTTGTGGGGAAGCACGATCATCACAAGGTACAGAAACAGAGGACTCAACCATGTCTCCCTTTTCCAATGCAGACTTCCAGCCTGATGCAGGCTCAAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAAAAGTTACAGGGCTTATCAGAATTTTTACGAAG... | CCTTACCTTTAACCTATCCATGTTGGAGTTCAAAACAGCAGCTATAAAGGGGTTGTGGGGAAGCACGATCATCACAAGGTACAGAAACAGAGGACTCAACCATGTCTCCCTTTTCCAATGCAGACTTCCAGCCTGATGCAGGCTCAAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAAAAGTTACAGGGCTTATCAGAATTTTTACGAAG... |
Task1_train_31869 | With a mutation on Chromosome X in gene F8 (coagulation factor VIII), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary factor VIII deficiency disease | TGCAGACTTCCAGCCTGATGCAGGCTCAAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAAAAGTTACAGGGCTTATCAGAATTTTTACGAAGAAATAAGGAAAGTTTACCCCCGCTATTAAACTGGATGGTTTTTTTTTTTTAGAGACAGGGTCTTGCTCTGTTGTCCAAGTTTGAGTGCAGTGGCACTTTCATAGCTCACTGCAGCATC... | TGCAGACTTCCAGCCTGATGCAGGCTCAAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAAAAGTTACAGGGCTTATCAGAATTTTTACGAAGAAATAAGGAAAGTTTACCCCCGCTATTAAACTGGATGGTTTTTTTTTTTTAGAGACAGGGTCTTGCTCTGTTGTCCAAGTTTGAGTGCAGTGGCACTTTCATAGCTCACTGCAGCATC... |
Task1_train_31870 | The following genetic variant occurs in F8 (coagulation factor VIII) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary factor VIII deficiency disease | CCAGCCTGATGCAGGCTCAAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAAAAGTTACAGGGCTTATCAGAATTTTTACGAAGAAATAAGGAAAGTTTACCCCCGCTATTAAACTGGATGGTTTTTTTTTTTTAGAGACAGGGTCTTGCTCTGTTGTCCAAGTTTGAGTGCAGTGGCACTTTCATAGCTCACTGCAGCATCAACCTCCTG... | CCAGCCTGATGCAGGCTCAAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAAAAGTTACAGGGCTTATCAGAATTTTTACGAAGAAATAAGGAAAGTTTACCCCCGCTATTAAACTGGATGGTTTTTTTTTTTTAGAGACAGGGTCTTGCTCTGTTGTCCAAGTTTGAGTGCAGTGGCACTTTCATAGCTCACTGCAGCATCAACCTCCTG... |
Task1_train_31871 | Given this context: Chromosome X, gene F8 (coagulation factor VIII) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary factor VIII deficiency disease | CAGCCTGATGCAGGCTCAAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAAAAGTTACAGGGCTTATCAGAATTTTTACGAAGAAATAAGGAAAGTTTACCCCCGCTATTAAACTGGATGGTTTTTTTTTTTTAGAGACAGGGTCTTGCTCTGTTGTCCAAGTTTGAGTGCAGTGGCACTTTCATAGCTCACTGCAGCATCAACCTCCTGG... | CAGCCTGATGCAGGCTCAAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAAAAGTTACAGGGCTTATCAGAATTTTTACGAAGAAATAAGGAAAGTTTACCCCCGCTATTAAACTGGATGGTTTTTTTTTTTTAGAGACAGGGTCTTGCTCTGTTGTCCAAGTTTGAGTGCAGTGGCACTTTCATAGCTCACTGCAGCATCAACCTCCTGG... |
Task1_train_31872 | The gene F8 (coagulation factor VIII) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hereditary factor VIII deficiency disease | CAGCCTGATGCAGGCTCAAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAAAAGTTACAGGGCTTATCAGAATTTTTACGAAGAAATAAGGAAAGTTTACCCCCGCTATTAAACTGGATGGTTTTTTTTTTTTAGAGACAGGGTCTTGCTCTGTTGTCCAAGTTTGAGTGCAGTGGCACTTTCATAGCTCACTGCAGCATCAACCTCCTGG... | CAGCCTGATGCAGGCTCAAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAAAAGTTACAGGGCTTATCAGAATTTTTACGAAGAAATAAGGAAAGTTTACCCCCGCTATTAAACTGGATGGTTTTTTTTTTTTAGAGACAGGGTCTTGCTCTGTTGTCCAAGTTTGAGTGCAGTGGCACTTTCATAGCTCACTGCAGCATCAACCTCCTGG... |
Task1_train_31873 | This mutation occurs in F8 (coagulation factor VIII) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not specified | AAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAAAAGTTACAGGGCTTATCAGAATTTTTACGAAGAAATAAGGAAAGTTTACCCCCGCTATTAAACTGGATGGTTTTTTTTTTTTAGAGACAGGGTCTTGCTCTGTTGTCCAAGTTTGAGTGCAGTGGCACTTTCATAGCTCACTGCAGCATCAACCTCCTGGGCTCAAGCAATCCTTCC... | AAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAAAAGTTACAGGGCTTATCAGAATTTTTACGAAGAAATAAGGAAAGTTTACCCCCGCTATTAAACTGGATGGTTTTTTTTTTTTAGAGACAGGGTCTTGCTCTGTTGTCCAAGTTTGAGTGCAGTGGCACTTTCATAGCTCACTGCAGCATCAACCTCCTGGGCTCAAGCAATCCTTCC... |
Task1_train_31874 | Assess the clinical impact of this variant on gene F8 (coagulation factor VIII), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Thrombophilia, X-linked, due to factor 8 defect | AAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAAAAGTTACAGGGCTTATCAGAATTTTTACGAAGAAATAAGGAAAGTTTACCCCCGCTATTAAACTGGATGGTTTTTTTTTTTTAGAGACAGGGTCTTGCTCTGTTGTCCAAGTTTGAGTGCAGTGGCACTTTCATAGCTCACTGCAGCATCAACCTCCTGGGCTCAAGCAATCCTTCC... | AAGTTGGAGGAGGGGAGATTGAAGTTAAATCAAGTTTACAATTTTGATTAATATCTTGGGATGGACATTGTAATTTCTGATTTGAACTGTATTTGTGACATAAAGTGACTTTAGTCCTGTTTATTACTTAAGGGTGAGCAGAAAAGTTACAGGGCTTATCAGAATTTTTACGAAGAAATAAGGAAAGTTTACCCCCGCTATTAAACTGGATGGTTTTTTTTTTTTAGAGACAGGGTCTTGCTCTGTTGTCCAAGTTTGAGTGCAGTGGCACTTTCATAGCTCACTGCAGCATCAACCTCCTGGGCTCAAGCAATCCTTCC... |
Task1_train_31875 | This variant impacts the gene F8 (coagulation factor VIII) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary factor VIII deficiency disease | TTTTCAGTGAAGTACCAGCTTTTGGTCTCATCAAAGATGGTGAAAAACAGAGCAAATTCCTGTACTGTCACTTGTCTCCCATGAGCAGGGTTCAGTGTGTTAGTGTGGCAGACCAGAAGGGGTCCAATCAGGCCTGAGTGCACATCTTTTTCCTAGGGAGGGAAGACATCAATCCTATGAGTATAAGCTCTCTCACCTATGAACCAGAGTGGATTTCTCATCAATTTTTATGCCAGTCCAACCTGCCTCCCACCTTCCAAAAATATAATCCATCCTCTTCAGTAGATTCCAGAATGACATTTCTAAAACACAAATATAAT... | TTTTCAGTGAAGTACCAGCTTTTGGTCTCATCAAAGATGGTGAAAAACAGAGCAAATTCCTGTACTGTCACTTGTCTCCCATGAGCAGGGTTCAGTGTGTTAGTGTGGCAGACCAGAAGGGGTCCAATCAGGCCTGAGTGCACATCTTTTTCCTAGGGAGGGAAGACATCAATCCTATGAGTATAAGCTCTCTCACCTATGAACCAGAGTGGATTTCTCATCAATTTTTATGCCAGTCCAACCTGCCTCCCACCTTCCAAAAATATAATCCATCCTCTTCAGTAGATTCCAGAATGACATTTCTAAAACACAAATATAAT... |
Task1_train_31876 | A variant was discovered in gene F8 (coagulation factor VIII), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hereditary factor VIII deficiency disease | ATGGTGAAAAACAGAGCAAATTCCTGTACTGTCACTTGTCTCCCATGAGCAGGGTTCAGTGTGTTAGTGTGGCAGACCAGAAGGGGTCCAATCAGGCCTGAGTGCACATCTTTTTCCTAGGGAGGGAAGACATCAATCCTATGAGTATAAGCTCTCTCACCTATGAACCAGAGTGGATTTCTCATCAATTTTTATGCCAGTCCAACCTGCCTCCCACCTTCCAAAAATATAATCCATCCTCTTCAGTAGATTCCAGAATGACATTTCTAAAACACAAATATAATGATCAACTCTCCTATTTAAAGCTTCTTATTGCACGT... | ATGGTGAAAAACAGAGCAAATTCCTGTACTGTCACTTGTCTCCCATGAGCAGGGTTCAGTGTGTTAGTGTGGCAGACCAGAAGGGGTCCAATCAGGCCTGAGTGCACATCTTTTTCCTAGGGAGGGAAGACATCAATCCTATGAGTATAAGCTCTCTCACCTATGAACCAGAGTGGATTTCTCATCAATTTTTATGCCAGTCCAACCTGCCTCCCACCTTCCAAAAATATAATCCATCCTCTTCAGTAGATTCCAGAATGACATTTCTAAAACACAAATATAATGATCAACTCTCCTATTTAAAGCTTCTTATTGCACGT... |
Task1_train_31877 | Here is a variant affecting F8 (coagulation factor VIII) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary factor VIII deficiency disease | TGGTGAAAAACAGAGCAAATTCCTGTACTGTCACTTGTCTCCCATGAGCAGGGTTCAGTGTGTTAGTGTGGCAGACCAGAAGGGGTCCAATCAGGCCTGAGTGCACATCTTTTTCCTAGGGAGGGAAGACATCAATCCTATGAGTATAAGCTCTCTCACCTATGAACCAGAGTGGATTTCTCATCAATTTTTATGCCAGTCCAACCTGCCTCCCACCTTCCAAAAATATAATCCATCCTCTTCAGTAGATTCCAGAATGACATTTCTAAAACACAAATATAATGATCAACTCTCCTATTTAAAGCTTCTTATTGCACGTA... | TGGTGAAAAACAGAGCAAATTCCTGTACTGTCACTTGTCTCCCATGAGCAGGGTTCAGTGTGTTAGTGTGGCAGACCAGAAGGGGTCCAATCAGGCCTGAGTGCACATCTTTTTCCTAGGGAGGGAAGACATCAATCCTATGAGTATAAGCTCTCTCACCTATGAACCAGAGTGGATTTCTCATCAATTTTTATGCCAGTCCAACCTGCCTCCCACCTTCCAAAAATATAATCCATCCTCTTCAGTAGATTCCAGAATGACATTTCTAAAACACAAATATAATGATCAACTCTCCTATTTAAAGCTTCTTATTGCACGTA... |
Task1_train_31878 | This genomic variant is located on Chromosome X, within the F8 (coagulation factor VIII) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary factor VIII deficiency disease | CAGAGCAAATTCCTGTACTGTCACTTGTCTCCCATGAGCAGGGTTCAGTGTGTTAGTGTGGCAGACCAGAAGGGGTCCAATCAGGCCTGAGTGCACATCTTTTTCCTAGGGAGGGAAGACATCAATCCTATGAGTATAAGCTCTCTCACCTATGAACCAGAGTGGATTTCTCATCAATTTTTATGCCAGTCCAACCTGCCTCCCACCTTCCAAAAATATAATCCATCCTCTTCAGTAGATTCCAGAATGACATTTCTAAAACACAAATATAATGATCAACTCTCCTATTTAAAGCTTCTTATTGCACGTAGGATAAATAT... | CAGAGCAAATTCCTGTACTGTCACTTGTCTCCCATGAGCAGGGTTCAGTGTGTTAGTGTGGCAGACCAGAAGGGGTCCAATCAGGCCTGAGTGCACATCTTTTTCCTAGGGAGGGAAGACATCAATCCTATGAGTATAAGCTCTCTCACCTATGAACCAGAGTGGATTTCTCATCAATTTTTATGCCAGTCCAACCTGCCTCCCACCTTCCAAAAATATAATCCATCCTCTTCAGTAGATTCCAGAATGACATTTCTAAAACACAAATATAATGATCAACTCTCCTATTTAAAGCTTCTTATTGCACGTAGGATAAATAT... |
Task1_train_31879 | An alteration has been detected in F8 (coagulation factor VIII) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary factor VIII deficiency disease | GAGCAAATTCCTGTACTGTCACTTGTCTCCCATGAGCAGGGTTCAGTGTGTTAGTGTGGCAGACCAGAAGGGGTCCAATCAGGCCTGAGTGCACATCTTTTTCCTAGGGAGGGAAGACATCAATCCTATGAGTATAAGCTCTCTCACCTATGAACCAGAGTGGATTTCTCATCAATTTTTATGCCAGTCCAACCTGCCTCCCACCTTCCAAAAATATAATCCATCCTCTTCAGTAGATTCCAGAATGACATTTCTAAAACACAAATATAATGATCAACTCTCCTATTTAAAGCTTCTTATTGCACGTAGGATAAATATCA... | GAGCAAATTCCTGTACTGTCACTTGTCTCCCATGAGCAGGGTTCAGTGTGTTAGTGTGGCAGACCAGAAGGGGTCCAATCAGGCCTGAGTGCACATCTTTTTCCTAGGGAGGGAAGACATCAATCCTATGAGTATAAGCTCTCTCACCTATGAACCAGAGTGGATTTCTCATCAATTTTTATGCCAGTCCAACCTGCCTCCCACCTTCCAAAAATATAATCCATCCTCTTCAGTAGATTCCAGAATGACATTTCTAAAACACAAATATAATGATCAACTCTCCTATTTAAAGCTTCTTATTGCACGTAGGATAAATATCA... |
Task1_train_31880 | A genomic change on Chromosome X affects F8 (coagulation factor VIII). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary factor VIII deficiency disease | TCACTTGTCTCCCATGAGCAGGGTTCAGTGTGTTAGTGTGGCAGACCAGAAGGGGTCCAATCAGGCCTGAGTGCACATCTTTTTCCTAGGGAGGGAAGACATCAATCCTATGAGTATAAGCTCTCTCACCTATGAACCAGAGTGGATTTCTCATCAATTTTTATGCCAGTCCAACCTGCCTCCCACCTTCCAAAAATATAATCCATCCTCTTCAGTAGATTCCAGAATGACATTTCTAAAACACAAATATAATGATCAACTCTCCTATTTAAAGCTTCTTATTGCACGTAGGATAAATATCAAAATTCTTAGTACACAAA... | TCACTTGTCTCCCATGAGCAGGGTTCAGTGTGTTAGTGTGGCAGACCAGAAGGGGTCCAATCAGGCCTGAGTGCACATCTTTTTCCTAGGGAGGGAAGACATCAATCCTATGAGTATAAGCTCTCTCACCTATGAACCAGAGTGGATTTCTCATCAATTTTTATGCCAGTCCAACCTGCCTCCCACCTTCCAAAAATATAATCCATCCTCTTCAGTAGATTCCAGAATGACATTTCTAAAACACAAATATAATGATCAACTCTCCTATTTAAAGCTTCTTATTGCACGTAGGATAAATATCAAAATTCTTAGTACACAAA... |
Task1_train_31881 | This sequence variant lies in F8 (coagulation factor VIII) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Thrombophilia, X-linked, due to factor 8 defect | TGAGCAGGGTTCAGTGTGTTAGTGTGGCAGACCAGAAGGGGTCCAATCAGGCCTGAGTGCACATCTTTTTCCTAGGGAGGGAAGACATCAATCCTATGAGTATAAGCTCTCTCACCTATGAACCAGAGTGGATTTCTCATCAATTTTTATGCCAGTCCAACCTGCCTCCCACCTTCCAAAAATATAATCCATCCTCTTCAGTAGATTCCAGAATGACATTTCTAAAACACAAATATAATGATCAACTCTCCTATTTAAAGCTTCTTATTGCACGTAGGATAAATATCAAAATTCTTAGTACACAAAGACCATTTCTTTTA... | TGAGCAGGGTTCAGTGTGTTAGTGTGGCAGACCAGAAGGGGTCCAATCAGGCCTGAGTGCACATCTTTTTCCTAGGGAGGGAAGACATCAATCCTATGAGTATAAGCTCTCTCACCTATGAACCAGAGTGGATTTCTCATCAATTTTTATGCCAGTCCAACCTGCCTCCCACCTTCCAAAAATATAATCCATCCTCTTCAGTAGATTCCAGAATGACATTTCTAAAACACAAATATAATGATCAACTCTCCTATTTAAAGCTTCTTATTGCACGTAGGATAAATATCAAAATTCTTAGTACACAAAGACCATTTCTTTTA... |
Task1_train_31882 | Here is a mutation in F8 (coagulation factor VIII) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary factor VIII deficiency disease | AATAGAGATGAGGTTTTGCCATGTTGCCCAGGCTGATCTTGAACTCTGGGGCTCAACCAATCCACCTGCCTCAGCTTCCCCAAGTGCTGGGGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGC... | AATAGAGATGAGGTTTTGCCATGTTGCCCAGGCTGATCTTGAACTCTGGGGCTCAACCAATCCACCTGCCTCAGCTTCCCCAAGTGCTGGGGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGC... |
Task1_train_31883 | A change on Chromosome X affects gene F8 (coagulation factor VIII). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hereditary factor VIII deficiency disease | AGAGATGAGGTTTTGCCATGTTGCCCAGGCTGATCTTGAACTCTGGGGCTCAACCAATCCACCTGCCTCAGCTTCCCCAAGTGCTGGGGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGCTAA... | AGAGATGAGGTTTTGCCATGTTGCCCAGGCTGATCTTGAACTCTGGGGCTCAACCAATCCACCTGCCTCAGCTTCCCCAAGTGCTGGGGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGCTAA... |
Task1_train_31884 | A sequence alteration has been identified in F8 (coagulation factor VIII) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Hereditary factor VIII deficiency disease | CATGTTGCCCAGGCTGATCTTGAACTCTGGGGCTCAACCAATCCACCTGCCTCAGCTTCCCCAAGTGCTGGGGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGCTAAACAATGTCGTCACAGA... | CATGTTGCCCAGGCTGATCTTGAACTCTGGGGCTCAACCAATCCACCTGCCTCAGCTTCCCCAAGTGCTGGGGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGCTAAACAATGTCGTCACAGA... |
Task1_train_31885 | This sequence variant lies in F8 (coagulation factor VIII) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Thrombophilia, X-linked, due to factor 8 defect | ACTCTGGGGCTCAACCAATCCACCTGCCTCAGCTTCCCCAAGTGCTGGGGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGCTAAACAATGTCGTCACAGAGTGAGTATAAATAGAATAAAGAA... | ACTCTGGGGCTCAACCAATCCACCTGCCTCAGCTTCCCCAAGTGCTGGGGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGCTAAACAATGTCGTCACAGAGTGAGTATAAATAGAATAAAGAA... |
Task1_train_31886 | A mutation on Chromosome X affecting F8 (coagulation factor VIII) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not specified | ACTCTGGGGCTCAACCAATCCACCTGCCTCAGCTTCCCCAAGTGCTGGGGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGCTAAACAATGTCGTCACAGAGTGAGTATAAATAGAATAAAGAA... | ACTCTGGGGCTCAACCAATCCACCTGCCTCAGCTTCCCCAAGTGCTGGGGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGCTAAACAATGTCGTCACAGAGTGAGTATAAATAGAATAAAGAA... |
Task1_train_31887 | This variant lies on Chromosome X and affects the gene F8 (coagulation factor VIII). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hereditary factor VIII deficiency disease | ACTCTGGGGCTCAACCAATCCACCTGCCTCAGCTTCCCCAAGTGCTGGGGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGCTAAACAATGTCGTCACAGAGTGAGTATAAATAGAATAAAGAA... | ACTCTGGGGCTCAACCAATCCACCTGCCTCAGCTTCCCCAAGTGCTGGGGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGCTAAACAATGTCGTCACAGAGTGAGTATAAATAGAATAAAGAA... |
Task1_train_31888 | Given a variant located on Chromosome X and affecting F8 (coagulation factor VIII), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hereditary factor VIII deficiency disease | CCTGCCTCAGCTTCCCCAAGTGCTGGGGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGCTAAACAATGTCGTCACAGAGTGAGTATAAATAGAATAAAGAAGAAGTTGGAGAACTAATCCCTG... | CCTGCCTCAGCTTCCCCAAGTGCTGGGGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGCTAAACAATGTCGTCACAGAGTGAGTATAAATAGAATAAAGAAGAAGTTGGAGAACTAATCCCTG... |
Task1_train_31889 | Consider this mutation in F8 (coagulation factor VIII) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Inborn genetic diseases | GGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGCTAAACAATGTCGTCACAGAGTGAGTATAAATAGAATAAAGAAGAAGTTGGAGAACTAATCCCTGGAGCACTCTAACCTTTAAAGATTAGG... | GGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGCTAAACAATGTCGTCACAGAGTGAGTATAAATAGAATAAAGAAGAAGTTGGAGAACTAATCCCTGGAGCACTCTAACCTTTAAAGATTAGG... |
Task1_train_31890 | This variant affects the gene F8 (coagulation factor VIII) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary factor VIII deficiency disease | GGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGCTAAACAATGTCGTCACAGAGTGAGTATAAATAGAATAAAGAAGAAGTTGGAGAACTAATCCCTGGAGCACTCTAACCTTTAAAGATTAGG... | GGTTACAGGAGTGAGCCACCATGCCCGGCCAGGAATGGTTTTTGATTGCCATGGAGAAGGCTGAGCAATCAGCAGGTTTTGGGAAGGGGCAGGAATTAAGAGTCTAATTGTGTGCATGTTAAGGTAGGGAGTTGATATGTAAATTTTGACTTCAGGAGAGAGATCTGAGAATATCTCCAGATATTCAACTGGAATTATCTGCAGATAGATAGTACTTAAAATCATGAGGCTAAACAATGTCGTCACAGAGTGAGTATAAATAGAATAAAGAAGAAGTTGGAGAACTAATCCCTGGAGCACTCTAACCTTTAAAGATTAGG... |
Task1_train_31891 | This variant affects gene F8 (coagulation factor VIII) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Thrombophilia, X-linked, due to factor 8 defect | AGAGGAGAGAATGGCAGGAAAAGATGCAAAGGCTGCAAGCAGGGACAATTATTTTAAGACGGTTTCTGTAAAGATAGGGGAGGAAATAATAGCATGATTGATGTTGATGAGATTAATCTAGTGGAGAGATAAATTGATGATGTAAGGGAGAAAAGGAGAAATTGCTGGAGCAACATTTTTTATGAAGGGAGAAGAGATGGGAATCAAGTACAAAACTGGAGAGGTTGGCCTTAGGAGCACAGACACTCTATTTATTGTAATAAGTGTGCAGGCAGAGTATATGGGTACAAATGCCAGTAAATGTGATGTTGGGAGTCTGT... | AGAGGAGAGAATGGCAGGAAAAGATGCAAAGGCTGCAAGCAGGGACAATTATTTTAAGACGGTTTCTGTAAAGATAGGGGAGGAAATAATAGCATGATTGATGTTGATGAGATTAATCTAGTGGAGAGATAAATTGATGATGTAAGGGAGAAAAGGAGAAATTGCTGGAGCAACATTTTTTATGAAGGGAGAAGAGATGGGAATCAAGTACAAAACTGGAGAGGTTGGCCTTAGGAGCACAGACACTCTATTTATTGTAATAAGTGTGCAGGCAGAGTATATGGGTACAAATGCCAGTAAATGTGATGTTGGGAGTCTGT... |
Task1_train_31892 | A mutation found in F8 (coagulation factor VIII) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Thrombophilia, X-linked, due to factor 8 defect | ATGAGAAAGTCAGTGGACTAGGGAAATAGTCTATGGTTGCAATGCAGCAATAAGGGCTTACTTGAGCTAGAAAGCAAGGTGGGAAAGTGACAAGTCATGCTTGTCCCTTCTTGTTCCTCAAACATGGTAAACTTTTTCCATTCTCAGGGCCTTTGCATTTTCTCTTCCCTCTGTCTGGAAACATCTTCTCTCAGAGCTCCATCAGCTGGCCTGTTATCATCATTTAGGTCTCAACTCCTCAAAGATGATTTCTATGACCACCACAGCTAATGTAACACTCTACCGTATTACTCTATCATATTATTCTCTCTACCATATTA... | ATGAGAAAGTCAGTGGACTAGGGAAATAGTCTATGGTTGCAATGCAGCAATAAGGGCTTACTTGAGCTAGAAAGCAAGGTGGGAAAGTGACAAGTCATGCTTGTCCCTTCTTGTTCCTCAAACATGGTAAACTTTTTCCATTCTCAGGGCCTTTGCATTTTCTCTTCCCTCTGTCTGGAAACATCTTCTCTCAGAGCTCCATCAGCTGGCCTGTTATCATCATTTAGGTCTCAACTCCTCAAAGATGATTTCTATGACCACCACAGCTAATGTAACACTCTACCGTATTACTCTATCATATTATTCTCTCTACCATATTA... |
Task1_train_31893 | Here is a variant affecting F8 (coagulation factor VIII) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Thrombophilia, X-linked, due to factor 8 defect | TTCCTCAAACATGGTAAACTTTTTCCATTCTCAGGGCCTTTGCATTTTCTCTTCCCTCTGTCTGGAAACATCTTCTCTCAGAGCTCCATCAGCTGGCCTGTTATCATCATTTAGGTCTCAACTCCTCAAAGATGATTTCTATGACCACCACAGCTAATGTAACACTCTACCGTATTACTCTATCATATTATTCTCTCTACCATATTATTCTATTCTATCTTCTGAACAACACAATTGAGATTGCCTTATTTAGTTTTGTACTAACTTGTCTCTTGCTCTTTCCAATAGAATATAAGCTCCTGCTGTGCTGCACTCCAATG... | TTCCTCAAACATGGTAAACTTTTTCCATTCTCAGGGCCTTTGCATTTTCTCTTCCCTCTGTCTGGAAACATCTTCTCTCAGAGCTCCATCAGCTGGCCTGTTATCATCATTTAGGTCTCAACTCCTCAAAGATGATTTCTATGACCACCACAGCTAATGTAACACTCTACCGTATTACTCTATCATATTATTCTCTCTACCATATTATTCTATTCTATCTTCTGAACAACACAATTGAGATTGCCTTATTTAGTTTTGTACTAACTTGTCTCTTGCTCTTTCCAATAGAATATAAGCTCCTGCTGTGCTGCACTCCAATG... |
Task1_train_31894 | Given a variant located on Chromosome X and affecting F8 (coagulation factor VIII), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Thrombophilia, X-linked, due to factor 8 defect | CAGCTAATGTAACACTCTACCGTATTACTCTATCATATTATTCTCTCTACCATATTATTCTATTCTATCTTCTGAACAACACAATTGAGATTGCCTTATTTAGTTTTGTACTAACTTGTCTCTTGCTCTTTCCAATAGAATATAAGCTCCTGCTGTGCTGCACTCCAATGTGTACAAAAGTGTCTGGCATGTAGTAGGTGTTCCATAAATATTTGTGACTGACTGACTCTCCTTATGTTTATATTCCACATTTCTCTGTACTACTTGACTGCTCAACCTCCCTCTACTCACCTAAAAATAAAATCATCCTACTTTGCCCT... | CAGCTAATGTAACACTCTACCGTATTACTCTATCATATTATTCTCTCTACCATATTATTCTATTCTATCTTCTGAACAACACAATTGAGATTGCCTTATTTAGTTTTGTACTAACTTGTCTCTTGCTCTTTCCAATAGAATATAAGCTCCTGCTGTGCTGCACTCCAATGTGTACAAAAGTGTCTGGCATGTAGTAGGTGTTCCATAAATATTTGTGACTGACTGACTCTCCTTATGTTTATATTCCACATTTCTCTGTACTACTTGACTGCTCAACCTCCCTCTACTCACCTAAAAATAAAATCATCCTACTTTGCCCT... |
Task1_train_31895 | Gene F8 (coagulation factor VIII) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Thrombophilia, X-linked, due to factor 8 defect | TAGAATATAAGCTCCTGCTGTGCTGCACTCCAATGTGTACAAAAGTGTCTGGCATGTAGTAGGTGTTCCATAAATATTTGTGACTGACTGACTCTCCTTATGTTTATATTCCACATTTCTCTGTACTACTTGACTGCTCAACCTCCCTCTACTCACCTAAAAATAAAATCATCCTACTTTGCCCTCTGGATCCCCAGTATCATGAAAACCAATCCTCCCCAAGTCCTTAACCTCTTTAACACGAACTTGCTTCTTCCTTCTGCCTTGCTTAAAGTTCTCTGATGAGACTAAGATTTCCCCTGCAGCTCATAAGGTTGATA... | TAGAATATAAGCTCCTGCTGTGCTGCACTCCAATGTGTACAAAAGTGTCTGGCATGTAGTAGGTGTTCCATAAATATTTGTGACTGACTGACTCTCCTTATGTTTATATTCCACATTTCTCTGTACTACTTGACTGCTCAACCTCCCTCTACTCACCTAAAAATAAAATCATCCTACTTTGCCCTCTGGATCCCCAGTATCATGAAAACCAATCCTCCCCAAGTCCTTAACCTCTTTAACACGAACTTGCTTCTTCCTTCTGCCTTGCTTAAAGTTCTCTGATGAGACTAAGATTTCCCCTGCAGCTCATAAGGTTGATA... |
Task1_train_31896 | A mutation in F8 (coagulation factor VIII), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hereditary factor VIII deficiency disease | TATAGGTCTAATAGATGGAAATGATGATACCTTTGCAATGGGTAATGGAGATCTATTTGCTTGAGGGATGCTATGACTCCTCGTAAGGCAATCTGATAAGGGAGACTGAGTAATGGCCCCTTTCTCCTTCTCATTGTAGTCTATCTGTGTGAGGGTGCTCGGGGTCAAATGTTTCATGTTTTTGGACCACTGGGTTGAGGTGTCATCCACAATTATCCTTTTTTCAAGTTCTGTTTCTTCTAGTGGGAGTCTGAATTGTTTCAAAGCTCTCTTACTACGTTGCGTGACAAAATTCTGCTGGCTTGTATTAGGAGATATCC... | TATAGGTCTAATAGATGGAAATGATGATACCTTTGCAATGGGTAATGGAGATCTATTTGCTTGAGGGATGCTATGACTCCTCGTAAGGCAATCTGATAAGGGAGACTGAGTAATGGCCCCTTTCTCCTTCTCATTGTAGTCTATCTGTGTGAGGGTGCTCGGGGTCAAATGTTTCATGTTTTTGGACCACTGGGTTGAGGTGTCATCCACAATTATCCTTTTTTCAAGTTCTGTTTCTTCTAGTGGGAGTCTGAATTGTTTCAAAGCTCTCTTACTACGTTGCGTGACAAAATTCTGCTGGCTTGTATTAGGAGATATCC... |
Task1_train_31897 | Given this variant in gene F8 (coagulation factor VIII) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary factor VIII deficiency disease | AGATCTATTTGCTTGAGGGATGCTATGACTCCTCGTAAGGCAATCTGATAAGGGAGACTGAGTAATGGCCCCTTTCTCCTTCTCATTGTAGTCTATCTGTGTGAGGGTGCTCGGGGTCAAATGTTTCATGTTTTTGGACCACTGGGTTGAGGTGTCATCCACAATTATCCTTTTTTCAAGTTCTGTTTCTTCTAGTGGGAGTCTGAATTGTTTCAAAGCTCTCTTACTACGTTGCGTGACAAAATTCTGCTGGCTTGTATTAGGAGATATCCTTGTGGTGCATGCATATTTCTCTACAATTTGCTTGGTTTGATTTCCCA... | AGATCTATTTGCTTGAGGGATGCTATGACTCCTCGTAAGGCAATCTGATAAGGGAGACTGAGTAATGGCCCCTTTCTCCTTCTCATTGTAGTCTATCTGTGTGAGGGTGCTCGGGGTCAAATGTTTCATGTTTTTGGACCACTGGGTTGAGGTGTCATCCACAATTATCCTTTTTTCAAGTTCTGTTTCTTCTAGTGGGAGTCTGAATTGTTTCAAAGCTCTCTTACTACGTTGCGTGACAAAATTCTGCTGGCTTGTATTAGGAGATATCCTTGTGGTGCATGCATATTTCTCTACAATTTGCTTGGTTTGATTTCCCA... |
Task1_train_31898 | Gene F8 (coagulation factor VIII) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Thrombophilia, X-linked, due to factor 8 defect | AGATCTATTTGCTTGAGGGATGCTATGACTCCTCGTAAGGCAATCTGATAAGGGAGACTGAGTAATGGCCCCTTTCTCCTTCTCATTGTAGTCTATCTGTGTGAGGGTGCTCGGGGTCAAATGTTTCATGTTTTTGGACCACTGGGTTGAGGTGTCATCCACAATTATCCTTTTTTCAAGTTCTGTTTCTTCTAGTGGGAGTCTGAATTGTTTCAAAGCTCTCTTACTACGTTGCGTGACAAAATTCTGCTGGCTTGTATTAGGAGATATCCTTGTGGTGCATGCATATTTCTCTACAATTTGCTTGGTTTGATTTCCCA... | AGATCTATTTGCTTGAGGGATGCTATGACTCCTCGTAAGGCAATCTGATAAGGGAGACTGAGTAATGGCCCCTTTCTCCTTCTCATTGTAGTCTATCTGTGTGAGGGTGCTCGGGGTCAAATGTTTCATGTTTTTGGACCACTGGGTTGAGGTGTCATCCACAATTATCCTTTTTTCAAGTTCTGTTTCTTCTAGTGGGAGTCTGAATTGTTTCAAAGCTCTCTTACTACGTTGCGTGACAAAATTCTGCTGGCTTGTATTAGGAGATATCCTTGTGGTGCATGCATATTTCTCTACAATTTGCTTGGTTTGATTTCCCA... |
Task1_train_31899 | The gene F8 (coagulation factor VIII) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hereditary factor IX deficiency disease | AGATCTATTTGCTTGAGGGATGCTATGACTCCTCGTAAGGCAATCTGATAAGGGAGACTGAGTAATGGCCCCTTTCTCCTTCTCATTGTAGTCTATCTGTGTGAGGGTGCTCGGGGTCAAATGTTTCATGTTTTTGGACCACTGGGTTGAGGTGTCATCCACAATTATCCTTTTTTCAAGTTCTGTTTCTTCTAGTGGGAGTCTGAATTGTTTCAAAGCTCTCTTACTACGTTGCGTGACAAAATTCTGCTGGCTTGTATTAGGAGATATCCTTGTGGTGCATGCATATTTCTCTACAATTTGCTTGGTTTGATTTCCCA... | AGATCTATTTGCTTGAGGGATGCTATGACTCCTCGTAAGGCAATCTGATAAGGGAGACTGAGTAATGGCCCCTTTCTCCTTCTCATTGTAGTCTATCTGTGTGAGGGTGCTCGGGGTCAAATGTTTCATGTTTTTGGACCACTGGGTTGAGGTGTCATCCACAATTATCCTTTTTTCAAGTTCTGTTTCTTCTAGTGGGAGTCTGAATTGTTTCAAAGCTCTCTTACTACGTTGCGTGACAAAATTCTGCTGGCTTGTATTAGGAGATATCCTTGTGGTGCATGCATATTTCTCTACAATTTGCTTGGTTTGATTTCCCA... |
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