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_31900 | The gene F8 (coagulation factor VIII) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hereditary factor VIII deficiency disease | AGATCTATTTGCTTGAGGGATGCTATGACTCCTCGTAAGGCAATCTGATAAGGGAGACTGAGTAATGGCCCCTTTCTCCTTCTCATTGTAGTCTATCTGTGTGAGGGTGCTCGGGGTCAAATGTTTCATGTTTTTGGACCACTGGGTTGAGGTGTCATCCACAATTATCCTTTTTTCAAGTTCTGTTTCTTCTAGTGGGAGTCTGAATTGTTTCAAAGCTCTCTTACTACGTTGCGTGACAAAATTCTGCTGGCTTGTATTAGGAGATATCCTTGTGGTGCATGCATATTTCTCTACAATTTGCTTGGTTTGATTTCCCA... | AGATCTATTTGCTTGAGGGATGCTATGACTCCTCGTAAGGCAATCTGATAAGGGAGACTGAGTAATGGCCCCTTTCTCCTTCTCATTGTAGTCTATCTGTGTGAGGGTGCTCGGGGTCAAATGTTTCATGTTTTTGGACCACTGGGTTGAGGTGTCATCCACAATTATCCTTTTTTCAAGTTCTGTTTCTTCTAGTGGGAGTCTGAATTGTTTCAAAGCTCTCTTACTACGTTGCGTGACAAAATTCTGCTGGCTTGTATTAGGAGATATCCTTGTGGTGCATGCATATTTCTCTACAATTTGCTTGGTTTGATTTCCCA... |
Task1_train_31901 | 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 | CTATTTGCTTGAGGGATGCTATGACTCCTCGTAAGGCAATCTGATAAGGGAGACTGAGTAATGGCCCCTTTCTCCTTCTCATTGTAGTCTATCTGTGTGAGGGTGCTCGGGGTCAAATGTTTCATGTTTTTGGACCACTGGGTTGAGGTGTCATCCACAATTATCCTTTTTTCAAGTTCTGTTTCTTCTAGTGGGAGTCTGAATTGTTTCAAAGCTCTCTTACTACGTTGCGTGACAAAATTCTGCTGGCTTGTATTAGGAGATATCCTTGTGGTGCATGCATATTTCTCTACAATTTGCTTGGTTTGATTTCCCAAGCC... | CTATTTGCTTGAGGGATGCTATGACTCCTCGTAAGGCAATCTGATAAGGGAGACTGAGTAATGGCCCCTTTCTCCTTCTCATTGTAGTCTATCTGTGTGAGGGTGCTCGGGGTCAAATGTTTCATGTTTTTGGACCACTGGGTTGAGGTGTCATCCACAATTATCCTTTTTTCAAGTTCTGTTTCTTCTAGTGGGAGTCTGAATTGTTTCAAAGCTCTCTTACTACGTTGCGTGACAAAATTCTGCTGGCTTGTATTAGGAGATATCCTTGTGGTGCATGCATATTTCTCTACAATTTGCTTGGTTTGATTTCCCAAGCC... |
Task1_train_31902 | 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 | TATTTGCTTGAGGGATGCTATGACTCCTCGTAAGGCAATCTGATAAGGGAGACTGAGTAATGGCCCCTTTCTCCTTCTCATTGTAGTCTATCTGTGTGAGGGTGCTCGGGGTCAAATGTTTCATGTTTTTGGACCACTGGGTTGAGGTGTCATCCACAATTATCCTTTTTTCAAGTTCTGTTTCTTCTAGTGGGAGTCTGAATTGTTTCAAAGCTCTCTTACTACGTTGCGTGACAAAATTCTGCTGGCTTGTATTAGGAGATATCCTTGTGGTGCATGCATATTTCTCTACAATTTGCTTGGTTTGATTTCCCAAGCCT... | TATTTGCTTGAGGGATGCTATGACTCCTCGTAAGGCAATCTGATAAGGGAGACTGAGTAATGGCCCCTTTCTCCTTCTCATTGTAGTCTATCTGTGTGAGGGTGCTCGGGGTCAAATGTTTCATGTTTTTGGACCACTGGGTTGAGGTGTCATCCACAATTATCCTTTTTTCAAGTTCTGTTTCTTCTAGTGGGAGTCTGAATTGTTTCAAAGCTCTCTTACTACGTTGCGTGACAAAATTCTGCTGGCTTGTATTAGGAGATATCCTTGTGGTGCATGCATATTTCTCTACAATTTGCTTGGTTTGATTTCCCAAGCCT... |
Task1_train_31903 | 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 | GGATGCTATGACTCCTCGTAAGGCAATCTGATAAGGGAGACTGAGTAATGGCCCCTTTCTCCTTCTCATTGTAGTCTATCTGTGTGAGGGTGCTCGGGGTCAAATGTTTCATGTTTTTGGACCACTGGGTTGAGGTGTCATCCACAATTATCCTTTTTTCAAGTTCTGTTTCTTCTAGTGGGAGTCTGAATTGTTTCAAAGCTCTCTTACTACGTTGCGTGACAAAATTCTGCTGGCTTGTATTAGGAGATATCCTTGTGGTGCATGCATATTTCTCTACAATTTGCTTGGTTTGATTTCCCAAGCCTTCCAAGTTTTCT... | GGATGCTATGACTCCTCGTAAGGCAATCTGATAAGGGAGACTGAGTAATGGCCCCTTTCTCCTTCTCATTGTAGTCTATCTGTGTGAGGGTGCTCGGGGTCAAATGTTTCATGTTTTTGGACCACTGGGTTGAGGTGTCATCCACAATTATCCTTTTTTCAAGTTCTGTTTCTTCTAGTGGGAGTCTGAATTGTTTCAAAGCTCTCTTACTACGTTGCGTGACAAAATTCTGCTGGCTTGTATTAGGAGATATCCTTGTGGTGCATGCATATTTCTCTACAATTTGCTTGGTTTGATTTCCCAAGCCTTCCAAGTTTTCT... |
Task1_train_31904 | 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 | AATGTAGTCCTGGAAGTCCAAGCCAGAACAAGTAAGCAAGAGAAAGAAATAAAGGGTACCCAAATTGGAAAGGAAGAAGTCAAATTCTCCTTGTTTATAGATGACATAATCTTATATTTCACAAAAAACTAAAGACTCCATCAAAAAACTATTAGAACTGATAAACAAATTCAGTAAAGTTGCAGGATACAAAACCAACATGCAAAAATCAGTAGCATTTCTATATACCAAGAGCTAACAACCTAAAAAGAAATTTTTTAAAAATCATTTACAATAGCTATAATAAAAATAAATATATTGGAATAAATTAAACCAAAGAG... | AATGTAGTCCTGGAAGTCCAAGCCAGAACAAGTAAGCAAGAGAAAGAAATAAAGGGTACCCAAATTGGAAAGGAAGAAGTCAAATTCTCCTTGTTTATAGATGACATAATCTTATATTTCACAAAAAACTAAAGACTCCATCAAAAAACTATTAGAACTGATAAACAAATTCAGTAAAGTTGCAGGATACAAAACCAACATGCAAAAATCAGTAGCATTTCTATATACCAAGAGCTAACAACCTAAAAAGAAATTTTTTAAAAATCATTTACAATAGCTATAATAAAAATAAATATATTGGAATAAATTAAACCAAAGAG... |
Task1_train_31905 | 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 | TAGTCCTGGAAGTCCAAGCCAGAACAAGTAAGCAAGAGAAAGAAATAAAGGGTACCCAAATTGGAAAGGAAGAAGTCAAATTCTCCTTGTTTATAGATGACATAATCTTATATTTCACAAAAAACTAAAGACTCCATCAAAAAACTATTAGAACTGATAAACAAATTCAGTAAAGTTGCAGGATACAAAACCAACATGCAAAAATCAGTAGCATTTCTATATACCAAGAGCTAACAACCTAAAAAGAAATTTTTTAAAAATCATTTACAATAGCTATAATAAAAATAAATATATTGGAATAAATTAAACCAAAGAGCTGA... | TAGTCCTGGAAGTCCAAGCCAGAACAAGTAAGCAAGAGAAAGAAATAAAGGGTACCCAAATTGGAAAGGAAGAAGTCAAATTCTCCTTGTTTATAGATGACATAATCTTATATTTCACAAAAAACTAAAGACTCCATCAAAAAACTATTAGAACTGATAAACAAATTCAGTAAAGTTGCAGGATACAAAACCAACATGCAAAAATCAGTAGCATTTCTATATACCAAGAGCTAACAACCTAAAAAGAAATTTTTTAAAAATCATTTACAATAGCTATAATAAAAATAAATATATTGGAATAAATTAAACCAAAGAGCTGA... |
Task1_train_31906 | 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; Hereditary factor IX deficiency disease | AGTCCTGGAAGTCCAAGCCAGAACAAGTAAGCAAGAGAAAGAAATAAAGGGTACCCAAATTGGAAAGGAAGAAGTCAAATTCTCCTTGTTTATAGATGACATAATCTTATATTTCACAAAAAACTAAAGACTCCATCAAAAAACTATTAGAACTGATAAACAAATTCAGTAAAGTTGCAGGATACAAAACCAACATGCAAAAATCAGTAGCATTTCTATATACCAAGAGCTAACAACCTAAAAAGAAATTTTTTAAAAATCATTTACAATAGCTATAATAAAAATAAATATATTGGAATAAATTAAACCAAAGAGCTGAG... | AGTCCTGGAAGTCCAAGCCAGAACAAGTAAGCAAGAGAAAGAAATAAAGGGTACCCAAATTGGAAAGGAAGAAGTCAAATTCTCCTTGTTTATAGATGACATAATCTTATATTTCACAAAAAACTAAAGACTCCATCAAAAAACTATTAGAACTGATAAACAAATTCAGTAAAGTTGCAGGATACAAAACCAACATGCAAAAATCAGTAGCATTTCTATATACCAAGAGCTAACAACCTAAAAAGAAATTTTTTAAAAATCATTTACAATAGCTATAATAAAAATAAATATATTGGAATAAATTAAACCAAAGAGCTGAG... |
Task1_train_31907 | Gene F8 (coagulation factor VIII), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hereditary factor VIII deficiency disease | AAGCCAGAACAAGTAAGCAAGAGAAAGAAATAAAGGGTACCCAAATTGGAAAGGAAGAAGTCAAATTCTCCTTGTTTATAGATGACATAATCTTATATTTCACAAAAAACTAAAGACTCCATCAAAAAACTATTAGAACTGATAAACAAATTCAGTAAAGTTGCAGGATACAAAACCAACATGCAAAAATCAGTAGCATTTCTATATACCAAGAGCTAACAACCTAAAAAGAAATTTTTTAAAAATCATTTACAATAGCTATAATAAAAATAAATATATTGGAATAAATTAAACCAAAGAGCTGAGATATCTCTATAATG... | AAGCCAGAACAAGTAAGCAAGAGAAAGAAATAAAGGGTACCCAAATTGGAAAGGAAGAAGTCAAATTCTCCTTGTTTATAGATGACATAATCTTATATTTCACAAAAAACTAAAGACTCCATCAAAAAACTATTAGAACTGATAAACAAATTCAGTAAAGTTGCAGGATACAAAACCAACATGCAAAAATCAGTAGCATTTCTATATACCAAGAGCTAACAACCTAAAAAGAAATTTTTTAAAAATCATTTACAATAGCTATAATAAAAATAAATATATTGGAATAAATTAAACCAAAGAGCTGAGATATCTCTATAATG... |
Task1_train_31908 | 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; Hereditary factor VIII deficiency disease | CAAATTGGAAAGGAAGAAGTCAAATTCTCCTTGTTTATAGATGACATAATCTTATATTTCACAAAAAACTAAAGACTCCATCAAAAAACTATTAGAACTGATAAACAAATTCAGTAAAGTTGCAGGATACAAAACCAACATGCAAAAATCAGTAGCATTTCTATATACCAAGAGCTAACAACCTAAAAAGAAATTTTTTAAAAATCATTTACAATAGCTATAATAAAAATAAATATATTGGAATAAATTAAACCAAAGAGCTGAGATATCTCTATAATGAAAACTAAAATACTGATAAAGGGAATTGAAGAACACACAAA... | CAAATTGGAAAGGAAGAAGTCAAATTCTCCTTGTTTATAGATGACATAATCTTATATTTCACAAAAAACTAAAGACTCCATCAAAAAACTATTAGAACTGATAAACAAATTCAGTAAAGTTGCAGGATACAAAACCAACATGCAAAAATCAGTAGCATTTCTATATACCAAGAGCTAACAACCTAAAAAGAAATTTTTTAAAAATCATTTACAATAGCTATAATAAAAATAAATATATTGGAATAAATTAAACCAAAGAGCTGAGATATCTCTATAATGAAAACTAAAATACTGATAAAGGGAATTGAAGAACACACAAA... |
Task1_train_31909 | 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 | TTGTTTATAGATGACATAATCTTATATTTCACAAAAAACTAAAGACTCCATCAAAAAACTATTAGAACTGATAAACAAATTCAGTAAAGTTGCAGGATACAAAACCAACATGCAAAAATCAGTAGCATTTCTATATACCAAGAGCTAACAACCTAAAAAGAAATTTTTTAAAAATCATTTACAATAGCTATAATAAAAATAAATATATTGGAATAAATTAAACCAAAGAGCTGAGATATCTCTATAATGAAAACTAAAATACTGATAAAGGGAATTGAAGAACACACAAAAAACTGAAAAGGTATCTATCCCATTTTAAT... | TTGTTTATAGATGACATAATCTTATATTTCACAAAAAACTAAAGACTCCATCAAAAAACTATTAGAACTGATAAACAAATTCAGTAAAGTTGCAGGATACAAAACCAACATGCAAAAATCAGTAGCATTTCTATATACCAAGAGCTAACAACCTAAAAAGAAATTTTTTAAAAATCATTTACAATAGCTATAATAAAAATAAATATATTGGAATAAATTAAACCAAAGAGCTGAGATATCTCTATAATGAAAACTAAAATACTGATAAAGGGAATTGAAGAACACACAAAAAACTGAAAAGGTATCTATCCCATTTTAAT... |
Task1_train_31910 | 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 | TGTTTATAGATGACATAATCTTATATTTCACAAAAAACTAAAGACTCCATCAAAAAACTATTAGAACTGATAAACAAATTCAGTAAAGTTGCAGGATACAAAACCAACATGCAAAAATCAGTAGCATTTCTATATACCAAGAGCTAACAACCTAAAAAGAAATTTTTTAAAAATCATTTACAATAGCTATAATAAAAATAAATATATTGGAATAAATTAAACCAAAGAGCTGAGATATCTCTATAATGAAAACTAAAATACTGATAAAGGGAATTGAAGAACACACAAAAAACTGAAAAGGTATCTATCCCATTTTAATG... | TGTTTATAGATGACATAATCTTATATTTCACAAAAAACTAAAGACTCCATCAAAAAACTATTAGAACTGATAAACAAATTCAGTAAAGTTGCAGGATACAAAACCAACATGCAAAAATCAGTAGCATTTCTATATACCAAGAGCTAACAACCTAAAAAGAAATTTTTTAAAAATCATTTACAATAGCTATAATAAAAATAAATATATTGGAATAAATTAAACCAAAGAGCTGAGATATCTCTATAATGAAAACTAAAATACTGATAAAGGGAATTGAAGAACACACAAAAAACTGAAAAGGTATCTATCCCATTTTAATG... |
Task1_train_31911 | 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 | TCTCCACCAAAAGCTATATTAGAAATCCCAGAGGAAAAAAAATATATATCATCTTCAGTGAAATTGTTTTCTGGCTCTGCTTATGTCACTATATCTCTCTAGTTTTCATCACCGTCTCCAAGAAAATGAGACAGTTTAACTGTCCAGATACTGTGGCAAGTGCACATCCTACTTGGAAAAAGATGTGGTGGGAAAGGGAGAAATTATGAATAGAAAAAAATAGAAGAACAAATATCTAGTAAATAGCACAATAAGGAAATTATAAAATACAATATTCTATCAGGCTGAAGGAATTCTAAACCAAAGCCATGAGGCTGGAG... | TCTCCACCAAAAGCTATATTAGAAATCCCAGAGGAAAAAAAATATATATCATCTTCAGTGAAATTGTTTTCTGGCTCTGCTTATGTCACTATATCTCTCTAGTTTTCATCACCGTCTCCAAGAAAATGAGACAGTTTAACTGTCCAGATACTGTGGCAAGTGCACATCCTACTTGGAAAAAGATGTGGTGGGAAAGGGAGAAATTATGAATAGAAAAAAATAGAAGAACAAATATCTAGTAAATAGCACAATAAGGAAATTATAAAATACAATATTCTATCAGGCTGAAGGAATTCTAAACCAAAGCCATGAGGCTGGAG... |
Task1_train_31912 | 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 | TGAAATTGTTTTCTGGCTCTGCTTATGTCACTATATCTCTCTAGTTTTCATCACCGTCTCCAAGAAAATGAGACAGTTTAACTGTCCAGATACTGTGGCAAGTGCACATCCTACTTGGAAAAAGATGTGGTGGGAAAGGGAGAAATTATGAATAGAAAAAAATAGAAGAACAAATATCTAGTAAATAGCACAATAAGGAAATTATAAAATACAATATTCTATCAGGCTGAAGGAATTCTAAACCAAAGCCATGAGGCTGGAGAGAAGAGGGAGAAAAGAAAAAGCTCTGTGCCACTAGAATTAAATACTAAGCATTAGAC... | TGAAATTGTTTTCTGGCTCTGCTTATGTCACTATATCTCTCTAGTTTTCATCACCGTCTCCAAGAAAATGAGACAGTTTAACTGTCCAGATACTGTGGCAAGTGCACATCCTACTTGGAAAAAGATGTGGTGGGAAAGGGAGAAATTATGAATAGAAAAAAATAGAAGAACAAATATCTAGTAAATAGCACAATAAGGAAATTATAAAATACAATATTCTATCAGGCTGAAGGAATTCTAAACCAAAGCCATGAGGCTGGAGAGAAGAGGGAGAAAAGAAAAAGCTCTGTGCCACTAGAATTAAATACTAAGCATTAGAC... |
Task1_train_31913 | 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 | GCTTATGTCACTATATCTCTCTAGTTTTCATCACCGTCTCCAAGAAAATGAGACAGTTTAACTGTCCAGATACTGTGGCAAGTGCACATCCTACTTGGAAAAAGATGTGGTGGGAAAGGGAGAAATTATGAATAGAAAAAAATAGAAGAACAAATATCTAGTAAATAGCACAATAAGGAAATTATAAAATACAATATTCTATCAGGCTGAAGGAATTCTAAACCAAAGCCATGAGGCTGGAGAGAAGAGGGAGAAAAGAAAAAGCTCTGTGCCACTAGAATTAAATACTAAGCATTAGACTCTTGCACAAATGTGAAATC... | GCTTATGTCACTATATCTCTCTAGTTTTCATCACCGTCTCCAAGAAAATGAGACAGTTTAACTGTCCAGATACTGTGGCAAGTGCACATCCTACTTGGAAAAAGATGTGGTGGGAAAGGGAGAAATTATGAATAGAAAAAAATAGAAGAACAAATATCTAGTAAATAGCACAATAAGGAAATTATAAAATACAATATTCTATCAGGCTGAAGGAATTCTAAACCAAAGCCATGAGGCTGGAGAGAAGAGGGAGAAAAGAAAAAGCTCTGTGCCACTAGAATTAAATACTAAGCATTAGACTCTTGCACAAATGTGAAATC... |
Task1_train_31914 | 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; Hereditary factor VIII deficiency disease | TTATGTCACTATATCTCTCTAGTTTTCATCACCGTCTCCAAGAAAATGAGACAGTTTAACTGTCCAGATACTGTGGCAAGTGCACATCCTACTTGGAAAAAGATGTGGTGGGAAAGGGAGAAATTATGAATAGAAAAAAATAGAAGAACAAATATCTAGTAAATAGCACAATAAGGAAATTATAAAATACAATATTCTATCAGGCTGAAGGAATTCTAAACCAAAGCCATGAGGCTGGAGAGAAGAGGGAGAAAAGAAAAAGCTCTGTGCCACTAGAATTAAATACTAAGCATTAGACTCTTGCACAAATGTGAAATCTG... | TTATGTCACTATATCTCTCTAGTTTTCATCACCGTCTCCAAGAAAATGAGACAGTTTAACTGTCCAGATACTGTGGCAAGTGCACATCCTACTTGGAAAAAGATGTGGTGGGAAAGGGAGAAATTATGAATAGAAAAAAATAGAAGAACAAATATCTAGTAAATAGCACAATAAGGAAATTATAAAATACAATATTCTATCAGGCTGAAGGAATTCTAAACCAAAGCCATGAGGCTGGAGAGAAGAGGGAGAAAAGAAAAAGCTCTGTGCCACTAGAATTAAATACTAAGCATTAGACTCTTGCACAAATGTGAAATCTG... |
Task1_train_31915 | 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 VIII deficiency disease | GTCACTATATCTCTCTAGTTTTCATCACCGTCTCCAAGAAAATGAGACAGTTTAACTGTCCAGATACTGTGGCAAGTGCACATCCTACTTGGAAAAAGATGTGGTGGGAAAGGGAGAAATTATGAATAGAAAAAAATAGAAGAACAAATATCTAGTAAATAGCACAATAAGGAAATTATAAAATACAATATTCTATCAGGCTGAAGGAATTCTAAACCAAAGCCATGAGGCTGGAGAGAAGAGGGAGAAAAGAAAAAGCTCTGTGCCACTAGAATTAAATACTAAGCATTAGACTCTTGCACAAATGTGAAATCTGAATC... | GTCACTATATCTCTCTAGTTTTCATCACCGTCTCCAAGAAAATGAGACAGTTTAACTGTCCAGATACTGTGGCAAGTGCACATCCTACTTGGAAAAAGATGTGGTGGGAAAGGGAGAAATTATGAATAGAAAAAAATAGAAGAACAAATATCTAGTAAATAGCACAATAAGGAAATTATAAAATACAATATTCTATCAGGCTGAAGGAATTCTAAACCAAAGCCATGAGGCTGGAGAGAAGAGGGAGAAAAGAAAAAGCTCTGTGCCACTAGAATTAAATACTAAGCATTAGACTCTTGCACAAATGTGAAATCTGAATC... |
Task1_train_31916 | This alteration in F8 (coagulation factor VIII) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary factor VIII deficiency disease | TCACCGTCTCCAAGAAAATGAGACAGTTTAACTGTCCAGATACTGTGGCAAGTGCACATCCTACTTGGAAAAAGATGTGGTGGGAAAGGGAGAAATTATGAATAGAAAAAAATAGAAGAACAAATATCTAGTAAATAGCACAATAAGGAAATTATAAAATACAATATTCTATCAGGCTGAAGGAATTCTAAACCAAAGCCATGAGGCTGGAGAGAAGAGGGAGAAAAGAAAAAGCTCTGTGCCACTAGAATTAAATACTAAGCATTAGACTCTTGCACAAATGTGAAATCTGAATCCTTCAGAAGGAAAGCAATACCCTG... | TCACCGTCTCCAAGAAAATGAGACAGTTTAACTGTCCAGATACTGTGGCAAGTGCACATCCTACTTGGAAAAAGATGTGGTGGGAAAGGGAGAAATTATGAATAGAAAAAAATAGAAGAACAAATATCTAGTAAATAGCACAATAAGGAAATTATAAAATACAATATTCTATCAGGCTGAAGGAATTCTAAACCAAAGCCATGAGGCTGGAGAGAAGAGGGAGAAAAGAAAAAGCTCTGTGCCACTAGAATTAAATACTAAGCATTAGACTCTTGCACAAATGTGAAATCTGAATCCTTCAGAAGGAAAGCAATACCCTG... |
Task1_train_31917 | 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; Hereditary factor VIII deficiency disease | ACTGTCCAGATACTGTGGCAAGTGCACATCCTACTTGGAAAAAGATGTGGTGGGAAAGGGAGAAATTATGAATAGAAAAAAATAGAAGAACAAATATCTAGTAAATAGCACAATAAGGAAATTATAAAATACAATATTCTATCAGGCTGAAGGAATTCTAAACCAAAGCCATGAGGCTGGAGAGAAGAGGGAGAAAAGAAAAAGCTCTGTGCCACTAGAATTAAATACTAAGCATTAGACTCTTGCACAAATGTGAAATCTGAATCCTTCAGAAGGAAAGCAATACCCTGAACTATGTAAAAAATAAAAATGCAACTCAA... | ACTGTCCAGATACTGTGGCAAGTGCACATCCTACTTGGAAAAAGATGTGGTGGGAAAGGGAGAAATTATGAATAGAAAAAAATAGAAGAACAAATATCTAGTAAATAGCACAATAAGGAAATTATAAAATACAATATTCTATCAGGCTGAAGGAATTCTAAACCAAAGCCATGAGGCTGGAGAGAAGAGGGAGAAAAGAAAAAGCTCTGTGCCACTAGAATTAAATACTAAGCATTAGACTCTTGCACAAATGTGAAATCTGAATCCTTCAGAAGGAAAGCAATACCCTGAACTATGTAAAAAATAAAAATGCAACTCAA... |
Task1_train_31918 | 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; Hereditary factor VIII deficiency disease | ACATATGAAATGTTTTCAGACTAGTAGGGATCTTATGTATCATAAATATAATCAAATGGACATGTAGTCAAGCCTCAGCAATATGGCACTGAGTTATTCTGGGGCCGAGCAATGAGTTTTTGTGAAGAACTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCA... | ACATATGAAATGTTTTCAGACTAGTAGGGATCTTATGTATCATAAATATAATCAAATGGACATGTAGTCAAGCCTCAGCAATATGGCACTGAGTTATTCTGGGGCCGAGCAATGAGTTTTTGTGAAGAACTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCA... |
Task1_train_31919 | 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 | CTAGTAGGGATCTTATGTATCATAAATATAATCAAATGGACATGTAGTCAAGCCTCAGCAATATGGCACTGAGTTATTCTGGGGCCGAGCAATGAGTTTTTGTGAAGAACTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCA... | CTAGTAGGGATCTTATGTATCATAAATATAATCAAATGGACATGTAGTCAAGCCTCAGCAATATGGCACTGAGTTATTCTGGGGCCGAGCAATGAGTTTTTGTGAAGAACTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCA... |
Task1_train_31920 | This variant affects gene F8 (coagulation factor VIII) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary factor VIII deficiency disease | TAGTAGGGATCTTATGTATCATAAATATAATCAAATGGACATGTAGTCAAGCCTCAGCAATATGGCACTGAGTTATTCTGGGGCCGAGCAATGAGTTTTTGTGAAGAACTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCAA... | TAGTAGGGATCTTATGTATCATAAATATAATCAAATGGACATGTAGTCAAGCCTCAGCAATATGGCACTGAGTTATTCTGGGGCCGAGCAATGAGTTTTTGTGAAGAACTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCAA... |
Task1_train_31921 | 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 | AATGGACATGTAGTCAAGCCTCAGCAATATGGCACTGAGTTATTCTGGGGCCGAGCAATGAGTTTTTGTGAAGAACTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCTATCTTCCCACCTCAGCCTCCTGAGTAGGTG... | AATGGACATGTAGTCAAGCCTCAGCAATATGGCACTGAGTTATTCTGGGGCCGAGCAATGAGTTTTTGTGAAGAACTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCTATCTTCCCACCTCAGCCTCCTGAGTAGGTG... |
Task1_train_31922 | 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 VIII deficiency disease | CAAGCCTCAGCAATATGGCACTGAGTTATTCTGGGGCCGAGCAATGAGTTTTTGTGAAGAACTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCTATCTTCCCACCTCAGCCTCCTGAGTAGGTGGGACTACAGGCACA... | CAAGCCTCAGCAATATGGCACTGAGTTATTCTGGGGCCGAGCAATGAGTTTTTGTGAAGAACTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCTATCTTCCCACCTCAGCCTCCTGAGTAGGTGGGACTACAGGCACA... |
Task1_train_31923 | A variant affecting Chromosome X, within the gene F8 (coagulation factor VIII), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary factor VIII deficiency disease | GGGCCGAGCAATGAGTTTTTGTGAAGAACTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCTATCTTCCCACCTCAGCCTCCTGAGTAGGTGGGACTACAGGCACACACCACCATGCCCAGCTAATTTTTTTTTTTTTT... | GGGCCGAGCAATGAGTTTTTGTGAAGAACTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCTATCTTCCCACCTCAGCCTCCTGAGTAGGTGGGACTACAGGCACACACCACCATGCCCAGCTAATTTTTTTTTTTTTT... |
Task1_train_31924 | A sequence alteration has been identified in F8 (coagulation factor VIII) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Mild hemophilia A | GGCCGAGCAATGAGTTTTTGTGAAGAACTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCTATCTTCCCACCTCAGCCTCCTGAGTAGGTGGGACTACAGGCACACACCACCATGCCCAGCTAATTTTTTTTTTTTTTT... | GGCCGAGCAATGAGTTTTTGTGAAGAACTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCTATCTTCCCACCTCAGCCTCCTGAGTAGGTGGGACTACAGGCACACACCACCATGCCCAGCTAATTTTTTTTTTTTTTT... |
Task1_train_31925 | 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 | TGTGAAGAACTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCTATCTTCCCACCTCAGCCTCCTGAGTAGGTGGGACTACAGGCACACACCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTAGACAAG... | TGTGAAGAACTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCTATCTTCCCACCTCAGCCTCCTGAGTAGGTGGGACTACAGGCACACACCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTAGACAAG... |
Task1_train_31926 | 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 IX deficiency disease | CTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCTATCTTCCCACCTCAGCCTCCTGAGTAGGTGGGACTACAGGCACACACCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTAGACAAGGTCTTACTA... | CTAAGCTTTTCTTGTTCAGAGAATTTAGCTTTATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCTATCTTCCCACCTCAGCCTCCTGAGTAGGTGGGACTACAGGCACACACCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTAGACAAGGTCTTACTA... |
Task1_train_31927 | 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; not specified | ATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCTATCTTCCCACCTCAGCCTCCTGAGTAGGTGGGACTACAGGCACACACCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTAGACAAGGTCTTACTATTTTGCCCAGGATGGTCTTGAAATCCTGAGCT... | ATTTTTTAAAGCAGTAGAAATGGTCCAAATTCTAGCCATATTTTGAAATATTTTATATCTTTCCCTATGTTTTGCCCAAAAGTATTTATTAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTCGCTTTGTCATCCAGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCTATCTTCCCACCTCAGCCTCCTGAGTAGGTGGGACTACAGGCACACACCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTAGACAAGGTCTTACTATTTTGCCCAGGATGGTCTTGAAATCCTGAGCT... |
Task1_train_31928 | Consider a variant on Chromosome X in gene F8 (coagulation factor VIII). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary factor VIII deficiency disease | TAGTTAATGCTATTCACTACAAGAATGTCTTTAAGAAGAAAAAGATTTGGTTCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCGCTTGAGCTCAGGAGTTCGACACCAGTCTGGGCAACAAGTTAACACCCCATTTCTACAAAAAATAAAAATAATAAAAAAAATTAGCTGGGCATGGTAGTGTGCGTCTGTGGTCCCAACTACTCAGGAGGCTGAAGTGGGAGGATAGCCTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACGCTGTCTCAAAAAA... | TAGTTAATGCTATTCACTACAAGAATGTCTTTAAGAAGAAAAAGATTTGGTTCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCGCTTGAGCTCAGGAGTTCGACACCAGTCTGGGCAACAAGTTAACACCCCATTTCTACAAAAAATAAAAATAATAAAAAAAATTAGCTGGGCATGGTAGTGTGCGTCTGTGGTCCCAACTACTCAGGAGGCTGAAGTGGGAGGATAGCCTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACGCTGTCTCAAAAAA... |
Task1_train_31929 | 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 | TAGTTAATGCTATTCACTACAAGAATGTCTTTAAGAAGAAAAAGATTTGGTTCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCGCTTGAGCTCAGGAGTTCGACACCAGTCTGGGCAACAAGTTAACACCCCATTTCTACAAAAAATAAAAATAATAAAAAAAATTAGCTGGGCATGGTAGTGTGCGTCTGTGGTCCCAACTACTCAGGAGGCTGAAGTGGGAGGATAGCCTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACGCTGTCTCAAAAAA... | TAGTTAATGCTATTCACTACAAGAATGTCTTTAAGAAGAAAAAGATTTGGTTCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCGCTTGAGCTCAGGAGTTCGACACCAGTCTGGGCAACAAGTTAACACCCCATTTCTACAAAAAATAAAAATAATAAAAAAAATTAGCTGGGCATGGTAGTGTGCGTCTGTGGTCCCAACTACTCAGGAGGCTGAAGTGGGAGGATAGCCTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACGCTGTCTCAAAAAA... |
Task1_train_31930 | 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 | ATTCACTACAAGAATGTCTTTAAGAAGAAAAAGATTTGGTTCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCGCTTGAGCTCAGGAGTTCGACACCAGTCTGGGCAACAAGTTAACACCCCATTTCTACAAAAAATAAAAATAATAAAAAAAATTAGCTGGGCATGGTAGTGTGCGTCTGTGGTCCCAACTACTCAGGAGGCTGAAGTGGGAGGATAGCCTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACGCTGTCTCAAAAAAAAAATAAAAGA... | ATTCACTACAAGAATGTCTTTAAGAAGAAAAAGATTTGGTTCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCGCTTGAGCTCAGGAGTTCGACACCAGTCTGGGCAACAAGTTAACACCCCATTTCTACAAAAAATAAAAATAATAAAAAAAATTAGCTGGGCATGGTAGTGTGCGTCTGTGGTCCCAACTACTCAGGAGGCTGAAGTGGGAGGATAGCCTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGTGACAGAGCGAGACGCTGTCTCAAAAAAAAAATAAAAGA... |
Task1_train_31931 | This variant affects gene F8 (coagulation factor VIII) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary factor VIII deficiency disease | TCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTGGCTAATTCAAAATATATTGTTACCTTTTAAAAATCAAGGTACAGACCAATTTACACTGCTCTTGTTTTTGTGTGAAATGCACACACACACACACATACACACACACATTTGTACATGTATGCACTACTTCTGGAGGGGAGTATACAAACCCACAGCAATGACTGTCTGTCAGACTATGGGGTTGGAAGTCCAAGAGGGAGGAAAATTTACATTTTATTGCATGCTCTTGTTTATCTATTTTTAAATTAGCCAGTAAAAGTAACT... | TCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTGGCTAATTCAAAATATATTGTTACCTTTTAAAAATCAAGGTACAGACCAATTTACACTGCTCTTGTTTTTGTGTGAAATGCACACACACACACACATACACACACACATTTGTACATGTATGCACTACTTCTGGAGGGGAGTATACAAACCCACAGCAATGACTGTCTGTCAGACTATGGGGTTGGAAGTCCAAGAGGGAGGAAAATTTACATTTTATTGCATGCTCTTGTTTATCTATTTTTAAATTAGCCAGTAAAAGTAACT... |
Task1_train_31932 | 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 | CTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTGGCTAATTCAAAATATATTGTTACCTTTTAAAAATCAAGGTACAGACCAATTTACACTGCTCTTGTTTTTGTGTGAAATGCACACACACACACACATACACACACACATTTGTACATGTATGCACTACTTCTGGAGGGGAGTATACAAACCCACAGCAATGACTGTCTGTCAGACTATGGGGTTGGAAGTCCAAGAGGGAGGAAAATTTACATTTTATTGCATGCTCTTGTTTATCTATTTTTAAATTAGCCAGTAAAAGTAACTC... | CTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTGGCTAATTCAAAATATATTGTTACCTTTTAAAAATCAAGGTACAGACCAATTTACACTGCTCTTGTTTTTGTGTGAAATGCACACACACACACACATACACACACACATTTGTACATGTATGCACTACTTCTGGAGGGGAGTATACAAACCCACAGCAATGACTGTCTGTCAGACTATGGGGTTGGAAGTCCAAGAGGGAGGAAAATTTACATTTTATTGCATGCTCTTGTTTATCTATTTTTAAATTAGCCAGTAAAAGTAACTC... |
Task1_train_31933 | 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; Hereditary factor IX deficiency disease | TGGCTAATTCAAAATATATTGTTACCTTTTAAAAATCAAGGTACAGACCAATTTACACTGCTCTTGTTTTTGTGTGAAATGCACACACACACACACATACACACACACATTTGTACATGTATGCACTACTTCTGGAGGGGAGTATACAAACCCACAGCAATGACTGTCTGTCAGACTATGGGGTTGGAAGTCCAAGAGGGAGGAAAATTTACATTTTATTGCATGCTCTTGTTTATCTATTTTTAAATTAGCCAGTAAAAGTAACTCAAAATACACAAAAAGTACCCTATAAATATGTAAAATTATTGTGTCATTATGCA... | TGGCTAATTCAAAATATATTGTTACCTTTTAAAAATCAAGGTACAGACCAATTTACACTGCTCTTGTTTTTGTGTGAAATGCACACACACACACACATACACACACACATTTGTACATGTATGCACTACTTCTGGAGGGGAGTATACAAACCCACAGCAATGACTGTCTGTCAGACTATGGGGTTGGAAGTCCAAGAGGGAGGAAAATTTACATTTTATTGCATGCTCTTGTTTATCTATTTTTAAATTAGCCAGTAAAAGTAACTCAAAATACACAAAAAGTACCCTATAAATATGTAAAATTATTGTGTCATTATGCA... |
Task1_train_31934 | 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 | TATTGTTACCTTTTAAAAATCAAGGTACAGACCAATTTACACTGCTCTTGTTTTTGTGTGAAATGCACACACACACACACATACACACACACATTTGTACATGTATGCACTACTTCTGGAGGGGAGTATACAAACCCACAGCAATGACTGTCTGTCAGACTATGGGGTTGGAAGTCCAAGAGGGAGGAAAATTTACATTTTATTGCATGCTCTTGTTTATCTATTTTTAAATTAGCCAGTAAAAGTAACTCAAAATACACAAAAAGTACCCTATAAATATGTAAAATTATTGTGTCATTATGCATTTTAAAAATTAATGA... | TATTGTTACCTTTTAAAAATCAAGGTACAGACCAATTTACACTGCTCTTGTTTTTGTGTGAAATGCACACACACACACACATACACACACACATTTGTACATGTATGCACTACTTCTGGAGGGGAGTATACAAACCCACAGCAATGACTGTCTGTCAGACTATGGGGTTGGAAGTCCAAGAGGGAGGAAAATTTACATTTTATTGCATGCTCTTGTTTATCTATTTTTAAATTAGCCAGTAAAAGTAACTCAAAATACACAAAAAGTACCCTATAAATATGTAAAATTATTGTGTCATTATGCATTTTAAAAATTAATGA... |
Task1_train_31935 | 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 | AATCAAGGTACAGACCAATTTACACTGCTCTTGTTTTTGTGTGAAATGCACACACACACACACATACACACACACATTTGTACATGTATGCACTACTTCTGGAGGGGAGTATACAAACCCACAGCAATGACTGTCTGTCAGACTATGGGGTTGGAAGTCCAAGAGGGAGGAAAATTTACATTTTATTGCATGCTCTTGTTTATCTATTTTTAAATTAGCCAGTAAAAGTAACTCAAAATACACAAAAAGTACCCTATAAATATGTAAAATTATTGTGTCATTATGCATTTTAAAAATTAATGAATAAAAAATAAAATTAT... | AATCAAGGTACAGACCAATTTACACTGCTCTTGTTTTTGTGTGAAATGCACACACACACACACATACACACACACATTTGTACATGTATGCACTACTTCTGGAGGGGAGTATACAAACCCACAGCAATGACTGTCTGTCAGACTATGGGGTTGGAAGTCCAAGAGGGAGGAAAATTTACATTTTATTGCATGCTCTTGTTTATCTATTTTTAAATTAGCCAGTAAAAGTAACTCAAAATACACAAAAAGTACCCTATAAATATGTAAAATTATTGTGTCATTATGCATTTTAAAAATTAATGAATAAAAAATAAAATTAT... |
Task1_train_31936 | This variant affects gene F8 (coagulation factor VIII) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary factor VIII deficiency disease | CAATTTACACTGCTCTTGTTTTTGTGTGAAATGCACACACACACACACATACACACACACATTTGTACATGTATGCACTACTTCTGGAGGGGAGTATACAAACCCACAGCAATGACTGTCTGTCAGACTATGGGGTTGGAAGTCCAAGAGGGAGGAAAATTTACATTTTATTGCATGCTCTTGTTTATCTATTTTTAAATTAGCCAGTAAAAGTAACTCAAAATACACAAAAAGTACCCTATAAATATGTAAAATTATTGTGTCATTATGCATTTTAAAAATTAATGAATAAAAAATAAAATTATACAATCTTCAAAAAA... | CAATTTACACTGCTCTTGTTTTTGTGTGAAATGCACACACACACACACATACACACACACATTTGTACATGTATGCACTACTTCTGGAGGGGAGTATACAAACCCACAGCAATGACTGTCTGTCAGACTATGGGGTTGGAAGTCCAAGAGGGAGGAAAATTTACATTTTATTGCATGCTCTTGTTTATCTATTTTTAAATTAGCCAGTAAAAGTAACTCAAAATACACAAAAAGTACCCTATAAATATGTAAAATTATTGTGTCATTATGCATTTTAAAAATTAATGAATAAAAAATAAAATTATACAATCTTCAAAAAA... |
Task1_train_31937 | 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 | GTGTGAAATGCACACACACACACACATACACACACACATTTGTACATGTATGCACTACTTCTGGAGGGGAGTATACAAACCCACAGCAATGACTGTCTGTCAGACTATGGGGTTGGAAGTCCAAGAGGGAGGAAAATTTACATTTTATTGCATGCTCTTGTTTATCTATTTTTAAATTAGCCAGTAAAAGTAACTCAAAATACACAAAAAGTACCCTATAAATATGTAAAATTATTGTGTCATTATGCATTTTAAAAATTAATGAATAAAAAATAAAATTATACAATCTTCAAAAAATGAAAAATAGAAAAAATACGTAC... | GTGTGAAATGCACACACACACACACATACACACACACATTTGTACATGTATGCACTACTTCTGGAGGGGAGTATACAAACCCACAGCAATGACTGTCTGTCAGACTATGGGGTTGGAAGTCCAAGAGGGAGGAAAATTTACATTTTATTGCATGCTCTTGTTTATCTATTTTTAAATTAGCCAGTAAAAGTAACTCAAAATACACAAAAAGTACCCTATAAATATGTAAAATTATTGTGTCATTATGCATTTTAAAAATTAATGAATAAAAAATAAAATTATACAATCTTCAAAAAATGAAAAATAGAAAAAATACGTAC... |
Task1_train_31938 | 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 | TAGCTAATAAAAATTTTGAAGAAGTACAATGAAAGAAGATGTCATACAGATATCAAACATATCACAAAGTTGAAGTCATTAAAACAGGGTGGTAACAGATTAGTTAAGGAGAATTAAAAATCCCAGATTTTAGCAATTTAGTATATGATAAAGAAGACATTTTCAAATTAATGAAAAAAGGATTGGTTGTGTCAGCTGCCATTTGGGAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTT... | TAGCTAATAAAAATTTTGAAGAAGTACAATGAAAGAAGATGTCATACAGATATCAAACATATCACAAAGTTGAAGTCATTAAAACAGGGTGGTAACAGATTAGTTAAGGAGAATTAAAAATCCCAGATTTTAGCAATTTAGTATATGATAAAGAAGACATTTTCAAATTAATGAAAAAAGGATTGGTTGTGTCAGCTGCCATTTGGGAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTT... |
Task1_train_31939 | 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 | ATTTTGAAGAAGTACAATGAAAGAAGATGTCATACAGATATCAAACATATCACAAAGTTGAAGTCATTAAAACAGGGTGGTAACAGATTAGTTAAGGAGAATTAAAAATCCCAGATTTTAGCAATTTAGTATATGATAAAGAAGACATTTTCAAATTAATGAAAAAAGGATTGGTTGTGTCAGCTGCCATTTGGGAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTTGTAGTGTCTTGG... | ATTTTGAAGAAGTACAATGAAAGAAGATGTCATACAGATATCAAACATATCACAAAGTTGAAGTCATTAAAACAGGGTGGTAACAGATTAGTTAAGGAGAATTAAAAATCCCAGATTTTAGCAATTTAGTATATGATAAAGAAGACATTTTCAAATTAATGAAAAAAGGATTGGTTGTGTCAGCTGCCATTTGGGAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTTGTAGTGTCTTGG... |
Task1_train_31940 | 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 | TCAAACATATCACAAAGTTGAAGTCATTAAAACAGGGTGGTAACAGATTAGTTAAGGAGAATTAAAAATCCCAGATTTTAGCAATTTAGTATATGATAAAGAAGACATTTTCAAATTAATGAAAAAAGGATTGGTTGTGTCAGCTGCCATTTGGGAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTTGTAGTGTCTTGGGGGTGGCAAAGACATTCTCAGGCAGAAAACATAAGTGAAA... | TCAAACATATCACAAAGTTGAAGTCATTAAAACAGGGTGGTAACAGATTAGTTAAGGAGAATTAAAAATCCCAGATTTTAGCAATTTAGTATATGATAAAGAAGACATTTTCAAATTAATGAAAAAAGGATTGGTTGTGTCAGCTGCCATTTGGGAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTTGTAGTGTCTTGGGGGTGGCAAAGACATTCTCAGGCAGAAAACATAAGTGAAA... |
Task1_train_31941 | This gene mutation involves F8 (coagulation factor VIII) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary factor IX deficiency disease | AAACATATCACAAAGTTGAAGTCATTAAAACAGGGTGGTAACAGATTAGTTAAGGAGAATTAAAAATCCCAGATTTTAGCAATTTAGTATATGATAAAGAAGACATTTTCAAATTAATGAAAAAAGGATTGGTTGTGTCAGCTGCCATTTGGGAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTTGTAGTGTCTTGGGGGTGGCAAAGACATTCTCAGGCAGAAAACATAAGTGAAAAA... | AAACATATCACAAAGTTGAAGTCATTAAAACAGGGTGGTAACAGATTAGTTAAGGAGAATTAAAAATCCCAGATTTTAGCAATTTAGTATATGATAAAGAAGACATTTTCAAATTAATGAAAAAAGGATTGGTTGTGTCAGCTGCCATTTGGGAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTTGTAGTGTCTTGGGGGTGGCAAAGACATTCTCAGGCAGAAAACATAAGTGAAAAA... |
Task1_train_31942 | This variant affects gene F8 (coagulation factor VIII) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary factor VIII deficiency disease | AAACATATCACAAAGTTGAAGTCATTAAAACAGGGTGGTAACAGATTAGTTAAGGAGAATTAAAAATCCCAGATTTTAGCAATTTAGTATATGATAAAGAAGACATTTTCAAATTAATGAAAAAAGGATTGGTTGTGTCAGCTGCCATTTGGGAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTTGTAGTGTCTTGGGGGTGGCAAAGACATTCTCAGGCAGAAAACATAAGTGAAAAA... | AAACATATCACAAAGTTGAAGTCATTAAAACAGGGTGGTAACAGATTAGTTAAGGAGAATTAAAAATCCCAGATTTTAGCAATTTAGTATATGATAAAGAAGACATTTTCAAATTAATGAAAAAAGGATTGGTTGTGTCAGCTGCCATTTGGGAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTTGTAGTGTCTTGGGGGTGGCAAAGACATTCTCAGGCAGAAAACATAAGTGAAAAA... |
Task1_train_31943 | 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 | AACATATCACAAAGTTGAAGTCATTAAAACAGGGTGGTAACAGATTAGTTAAGGAGAATTAAAAATCCCAGATTTTAGCAATTTAGTATATGATAAAGAAGACATTTTCAAATTAATGAAAAAAGGATTGGTTGTGTCAGCTGCCATTTGGGAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTTGTAGTGTCTTGGGGGTGGCAAAGACATTCTCAGGCAGAAAACATAAGTGAAAAAG... | AACATATCACAAAGTTGAAGTCATTAAAACAGGGTGGTAACAGATTAGTTAAGGAGAATTAAAAATCCCAGATTTTAGCAATTTAGTATATGATAAAGAAGACATTTTCAAATTAATGAAAAAAGGATTGGTTGTGTCAGCTGCCATTTGGGAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTTGTAGTGTCTTGGGGGTGGCAAAGACATTCTCAGGCAGAAAACATAAGTGAAAAAG... |
Task1_train_31944 | 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 | TGGTTGTGTCAGCTGCCATTTGGGAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTTGTAGTGTCTTGGGGGTGGCAAAGACATTCTCAGGCAGAAAACATAAGTGAAAAAGATCCAGAGACATATAAATGAAAAGATTGATAAAAGATAGGAGGTTTTGACTATATAAAGATGAAAAATCTTTGAAGGACAAAAAATATCATAAAGGAGTTAAAGTACAAGTGACAATGTGAGGAAAAC... | TGGTTGTGTCAGCTGCCATTTGGGAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTTGTAGTGTCTTGGGGGTGGCAAAGACATTCTCAGGCAGAAAACATAAGTGAAAAAGATCCAGAGACATATAAATGAAAAGATTGATAAAAGATAGGAGGTTTTGACTATATAAAGATGAAAAATCTTTGAAGGACAAAAAATATCATAAAGGAGTTAAAGTACAAGTGACAATGTGAGGAAAAC... |
Task1_train_31945 | 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 | AGCTGCCATTTGGGAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTTGTAGTGTCTTGGGGGTGGCAAAGACATTCTCAGGCAGAAAACATAAGTGAAAAAGATCCAGAGACATATAAATGAAAAGATTGATAAAAGATAGGAGGTTTTGACTATATAAAGATGAAAAATCTTTGAAGGACAAAAAATATCATAAAGGAGTTAAAGTACAAGTGACAATGTGAGGAAAACATTTGAAAGA... | AGCTGCCATTTGGGAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTTGTAGTGTCTTGGGGGTGGCAAAGACATTCTCAGGCAGAAAACATAAGTGAAAAAGATCCAGAGACATATAAATGAAAAGATTGATAAAAGATAGGAGGTTTTGACTATATAAAGATGAAAAATCTTTGAAGGACAAAAAATATCATAAAGGAGTTAAAGTACAAGTGACAATGTGAGGAAAACATTTGAAAGA... |
Task1_train_31946 | 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 IX deficiency disease | GAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTTGTAGTGTCTTGGGGGTGGCAAAGACATTCTCAGGCAGAAAACATAAGTGAAAAAGATCCAGAGACATATAAATGAAAAGATTGATAAAAGATAGGAGGTTTTGACTATATAAAGATGAAAAATCTTTGAAGGACAAAAAATATCATAAAGGAGTTAAAGTACAAGTGACAATGTGAGGAAAACATTTGAAAGATAAATAACAATGT... | GAAAATTTCTATTTGAATTATGCACTACATTCAAAAGTAACTTCCAGGGCAATTAGATTGCTCACTGTAAAAATAAAGCTATACAAGTAAGAGAATAAAATATAGACTATTTTTGTAGTGTCTTGGGGGTGGCAAAGACATTCTCAGGCAGAAAACATAAGTGAAAAAGATCCAGAGACATATAAATGAAAAGATTGATAAAAGATAGGAGGTTTTGACTATATAAAGATGAAAAATCTTTGAAGGACAAAAAATATCATAAAGGAGTTAAAGTACAAGTGACAATGTGAGGAAAACATTTGAAAGATAAATAACAATGT... |
Task1_train_31947 | This gene mutation involves F8 (coagulation factor VIII) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary factor VIII deficiency disease | ATATATTTTAAGAGCATGTCTGCCTGTGACTAGTTGTAAACCCTATGGCAAATGTATTCAACATTCTCAGTCTCATCTTCATGCTTTGTAAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAAT... | ATATATTTTAAGAGCATGTCTGCCTGTGACTAGTTGTAAACCCTATGGCAAATGTATTCAACATTCTCAGTCTCATCTTCATGCTTTGTAAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAAT... |
Task1_train_31948 | 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 | TTTTAAGAGCATGTCTGCCTGTGACTAGTTGTAAACCCTATGGCAAATGTATTCAACATTCTCAGTCTCATCTTCATGCTTTGTAAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGA... | TTTTAAGAGCATGTCTGCCTGTGACTAGTTGTAAACCCTATGGCAAATGTATTCAACATTCTCAGTCTCATCTTCATGCTTTGTAAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGA... |
Task1_train_31949 | Chromosome X houses a mutation in gene F8 (coagulation factor VIII). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hereditary factor VIII deficiency disease | TGGCAAATGTATTCAACATTCTCAGTCTCATCTTCATGCTTTGTAAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACA... | TGGCAAATGTATTCAACATTCTCAGTCTCATCTTCATGCTTTGTAAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACA... |
Task1_train_31950 | 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 IX deficiency disease | AATGTATTCAACATTCTCAGTCTCATCTTCATGCTTTGTAAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACA... | AATGTATTCAACATTCTCAGTCTCATCTTCATGCTTTGTAAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACA... |
Task1_train_31951 | 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 | AATGTATTCAACATTCTCAGTCTCATCTTCATGCTTTGTAAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACA... | AATGTATTCAACATTCTCAGTCTCATCTTCATGCTTTGTAAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACA... |
Task1_train_31952 | 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 | ATTCTCAGTCTCATCTTCATGCTTTGTAAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTG... | ATTCTCAGTCTCATCTTCATGCTTTGTAAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTG... |
Task1_train_31953 | 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 | CTTTGTAAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTGAATCGGGGTCCAACTGGACAA... | CTTTGTAAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTGAATCGGGGTCCAACTGGACAA... |
Task1_train_31954 | This alteration in F8 (coagulation factor VIII) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | CTTTGTAAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTGAATCGGGGTCCAACTGGACAA... | CTTTGTAAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTGAATCGGGGTCCAACTGGACAA... |
Task1_train_31955 | 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 | AAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTGAATCGGGGTCCAACTGGACAATGATTG... | AAAATGGATAATAATAATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTGAATCGGGGTCCAACTGGACAATGATTG... |
Task1_train_31956 | 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 | AATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTGAATCGGGGTCCAACTGGACAATGATTGATTGACAATGATCAT... | AATTCCTGCCCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTGAATCGGGGTCCAACTGGACAATGATTGATTGACAATGATCAT... |
Task1_train_31957 | 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 | CCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTGAATCGGGGTCCAACTGGACAATGATTGATTGACAATGATCATATACAAGTA... | CCTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTGAATCGGGGTCCAACTGGACAATGATTGATTGACAATGATCATATACAAGTA... |
Task1_train_31958 | 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; not provided | CTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTGAATCGGGGTCCAACTGGACAATGATTGATTGACAATGATCATATACAAGTAA... | CTATTTATACCACAGGGCAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTGAATCGGGGTCCAACTGGACAATGATTGATTGACAATGATCATATACAAGTAA... |
Task1_train_31959 | 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 | CAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTGAATCGGGGTCCAACTGGACAATGATTGATTGACAATGATCATATACAAGTAAATGACCTATTCCTCTGT... | CAATTTTGAAGATCAAATACTTCTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTGAATCGGGGTCCAACTGGACAATGATTGATTGACAATGATCATATACAAGTAAATGACCTATTCCTCTGT... |
Task1_train_31960 | 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 | CTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTGAATCGGGGTCCAACTGGACAATGATTGATTGACAATGATCATATACAAGTAAATGACCTATTCCTCTGTGCCTGCAAGAATGTTGTTTGTG... | CTAAGAAGGGAGACCTGTTTACTTGATTATGAGGAACAGGGAAGGTTTTAGGAGCAGCAAACAACTAGTCTGGGGTTCATGTAGCCTTAAACATAACTCAGTCTGCATCGAAAAACAAAGTGTTTGGTCTGAGGTTCAATAAGATAAAGCATTTTTTTCTGAAAAATAAAGATTAAAATTAGTGGATAGAATCTGTGAAAAGGAGAAAAACAAAACAAAAAATAAACTGAATCGGGGTCCAACTGGACAATGATTGATTGACAATGATCATATACAAGTAAATGACCTATTCCTCTGTGCCTGCAAGAATGTTGTTTGTG... |
Task1_train_31961 | 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; not specified | AATCGCAACTGCATAAAATTAACGGTAGTAGCCATCTCCTATTGTTATTGTGCTGAGCTCGAGTGCTGCAGGCATCCACTGAAAACTCTGCATGATGCTAATCATCTCTGCATAAGCATTTCATCTCTCCATAAACTTTGAAGGATACTTGGGACCCGTATAAAGTGCCACTAGTGATGCTGGAAGTACTCCCAAGAAGCAGAGAAAAGTATAAATAACATTTTCCTTTCTCTAGCTTACTTTATTGAAAATATACAGCATATAATACATACACAAAATATTTGTTGTTTATGTTATTGATAAGGCTTCTGATCAACAAT... | AATCGCAACTGCATAAAATTAACGGTAGTAGCCATCTCCTATTGTTATTGTGCTGAGCTCGAGTGCTGCAGGCATCCACTGAAAACTCTGCATGATGCTAATCATCTCTGCATAAGCATTTCATCTCTCCATAAACTTTGAAGGATACTTGGGACCCGTATAAAGTGCCACTAGTGATGCTGGAAGTACTCCCAAGAAGCAGAGAAAAGTATAAATAACATTTTCCTTTCTCTAGCTTACTTTATTGAAAATATACAGCATATAATACATACACAAAATATTTGTTGTTTATGTTATTGATAAGGCTTCTGATCAACAAT... |
Task1_train_31962 | This variant affects gene F8 (coagulation factor VIII) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary factor VIII deficiency disease | AACTGCATAAAATTAACGGTAGTAGCCATCTCCTATTGTTATTGTGCTGAGCTCGAGTGCTGCAGGCATCCACTGAAAACTCTGCATGATGCTAATCATCTCTGCATAAGCATTTCATCTCTCCATAAACTTTGAAGGATACTTGGGACCCGTATAAAGTGCCACTAGTGATGCTGGAAGTACTCCCAAGAAGCAGAGAAAAGTATAAATAACATTTTCCTTTCTCTAGCTTACTTTATTGAAAATATACAGCATATAATACATACACAAAATATTTGTTGTTTATGTTATTGATAAGGCTTCTGATCAACAATAGGTCA... | AACTGCATAAAATTAACGGTAGTAGCCATCTCCTATTGTTATTGTGCTGAGCTCGAGTGCTGCAGGCATCCACTGAAAACTCTGCATGATGCTAATCATCTCTGCATAAGCATTTCATCTCTCCATAAACTTTGAAGGATACTTGGGACCCGTATAAAGTGCCACTAGTGATGCTGGAAGTACTCCCAAGAAGCAGAGAAAAGTATAAATAACATTTTCCTTTCTCTAGCTTACTTTATTGAAAATATACAGCATATAATACATACACAAAATATTTGTTGTTTATGTTATTGATAAGGCTTCTGATCAACAATAGGTCA... |
Task1_train_31963 | Consider this mutation in F8 (coagulation factor VIII) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Hereditary factor VIII deficiency disease | ACTCTGGGAGGCTGAGGCAGGTGGATCACTTCAGGTCAGGCGTTTGAGAGTAGCCTGGCCAACATGGTGAAACCCTATCCCCACTAAAAATACACAAATTAGGCGGGCATGGTGGCATGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGACGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAACCTGGGCAACAGAGTGAGACTCGATCTCAAAAAAAAAAGAAAAGAAAAAAGAAAATTGTCCTAGGAAAAAGGCTGTCTGTCAGTCCCTGTCTCCGTTATAA... | ACTCTGGGAGGCTGAGGCAGGTGGATCACTTCAGGTCAGGCGTTTGAGAGTAGCCTGGCCAACATGGTGAAACCCTATCCCCACTAAAAATACACAAATTAGGCGGGCATGGTGGCATGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGACGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAACCTGGGCAACAGAGTGAGACTCGATCTCAAAAAAAAAAGAAAAGAAAAAAGAAAATTGTCCTAGGAAAAAGGCTGTCTGTCAGTCCCTGTCTCCGTTATAA... |
Task1_train_31964 | 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 VIII deficiency disease | GGGAGGCTGAGGCAGGTGGATCACTTCAGGTCAGGCGTTTGAGAGTAGCCTGGCCAACATGGTGAAACCCTATCCCCACTAAAAATACACAAATTAGGCGGGCATGGTGGCATGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGACGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAACCTGGGCAACAGAGTGAGACTCGATCTCAAAAAAAAAAGAAAAGAAAAAAGAAAATTGTCCTAGGAAAAAGGCTGTCTGTCAGTCCCTGTCTCCGTTATAATTGCT... | GGGAGGCTGAGGCAGGTGGATCACTTCAGGTCAGGCGTTTGAGAGTAGCCTGGCCAACATGGTGAAACCCTATCCCCACTAAAAATACACAAATTAGGCGGGCATGGTGGCATGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGACGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAACCTGGGCAACAGAGTGAGACTCGATCTCAAAAAAAAAAGAAAAGAAAAAAGAAAATTGTCCTAGGAAAAAGGCTGTCTGTCAGTCCCTGTCTCCGTTATAATTGCT... |
Task1_train_31965 | 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 | ACTTTCCAGTTCTGTGAGCTCCCTTTTTTGGTTTTCTAACCAGAAGCTTCCAATTTCCACAACTACATCATAGCTAAGGTCAAGCAATGGAAGGGGAAAGACAGAGAGAAAGTAATGTGCTTTTCCCCCAATGTCTTAGATCTGTAGCTGTACTGAATGAAGAATAATGTTCCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAG... | ACTTTCCAGTTCTGTGAGCTCCCTTTTTTGGTTTTCTAACCAGAAGCTTCCAATTTCCACAACTACATCATAGCTAAGGTCAAGCAATGGAAGGGGAAAGACAGAGAGAAAGTAATGTGCTTTTCCCCCAATGTCTTAGATCTGTAGCTGTACTGAATGAAGAATAATGTTCCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAG... |
Task1_train_31966 | Consider this mutation in F8 (coagulation factor VIII) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | TTCTGTGAGCTCCCTTTTTTGGTTTTCTAACCAGAAGCTTCCAATTTCCACAACTACATCATAGCTAAGGTCAAGCAATGGAAGGGGAAAGACAGAGAGAAAGTAATGTGCTTTTCCCCCAATGTCTTAGATCTGTAGCTGTACTGAATGAAGAATAATGTTCCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTC... | TTCTGTGAGCTCCCTTTTTTGGTTTTCTAACCAGAAGCTTCCAATTTCCACAACTACATCATAGCTAAGGTCAAGCAATGGAAGGGGAAAGACAGAGAGAAAGTAATGTGCTTTTCCCCCAATGTCTTAGATCTGTAGCTGTACTGAATGAAGAATAATGTTCCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTC... |
Task1_train_31967 | 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 | CCTTTTTTGGTTTTCTAACCAGAAGCTTCCAATTTCCACAACTACATCATAGCTAAGGTCAAGCAATGGAAGGGGAAAGACAGAGAGAAAGTAATGTGCTTTTCCCCCAATGTCTTAGATCTGTAGCTGTACTGAATGAAGAATAATGTTCCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTCTCACTCCTTGAA... | CCTTTTTTGGTTTTCTAACCAGAAGCTTCCAATTTCCACAACTACATCATAGCTAAGGTCAAGCAATGGAAGGGGAAAGACAGAGAGAAAGTAATGTGCTTTTCCCCCAATGTCTTAGATCTGTAGCTGTACTGAATGAAGAATAATGTTCCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTCTCACTCCTTGAA... |
Task1_train_31968 | 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 | TCTAACCAGAAGCTTCCAATTTCCACAACTACATCATAGCTAAGGTCAAGCAATGGAAGGGGAAAGACAGAGAGAAAGTAATGTGCTTTTCCCCCAATGTCTTAGATCTGTAGCTGTACTGAATGAAGAATAATGTTCCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTCTCACTCCTTGAAACCCCAGAGGGTT... | TCTAACCAGAAGCTTCCAATTTCCACAACTACATCATAGCTAAGGTCAAGCAATGGAAGGGGAAAGACAGAGAGAAAGTAATGTGCTTTTCCCCCAATGTCTTAGATCTGTAGCTGTACTGAATGAAGAATAATGTTCCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTCTCACTCCTTGAAACCCCAGAGGGTT... |
Task1_train_31969 | 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; F8-related disorder | TCTAACCAGAAGCTTCCAATTTCCACAACTACATCATAGCTAAGGTCAAGCAATGGAAGGGGAAAGACAGAGAGAAAGTAATGTGCTTTTCCCCCAATGTCTTAGATCTGTAGCTGTACTGAATGAAGAATAATGTTCCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTCTCACTCCTTGAAACCCCAGAGGGTT... | TCTAACCAGAAGCTTCCAATTTCCACAACTACATCATAGCTAAGGTCAAGCAATGGAAGGGGAAAGACAGAGAGAAAGTAATGTGCTTTTCCCCCAATGTCTTAGATCTGTAGCTGTACTGAATGAAGAATAATGTTCCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTCTCACTCCTTGAAACCCCAGAGGGTT... |
Task1_train_31970 | 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 IX deficiency disease | TCTAACCAGAAGCTTCCAATTTCCACAACTACATCATAGCTAAGGTCAAGCAATGGAAGGGGAAAGACAGAGAGAAAGTAATGTGCTTTTCCCCCAATGTCTTAGATCTGTAGCTGTACTGAATGAAGAATAATGTTCCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTCTCACTCCTTGAAACCCCAGAGGGTT... | TCTAACCAGAAGCTTCCAATTTCCACAACTACATCATAGCTAAGGTCAAGCAATGGAAGGGGAAAGACAGAGAGAAAGTAATGTGCTTTTCCCCCAATGTCTTAGATCTGTAGCTGTACTGAATGAAGAATAATGTTCCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTCTCACTCCTTGAAACCCCAGAGGGTT... |
Task1_train_31971 | 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 | CAATGGAAGGGGAAAGACAGAGAGAAAGTAATGTGCTTTTCCCCCAATGTCTTAGATCTGTAGCTGTACTGAATGAAGAATAATGTTCCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTCTCACTCCTTGAAACCCCAGAGGGTTTGTCCTGGAGCTCTCTTTGCAACATAGTACTCACTTCGAAGTCTCCAGTT... | CAATGGAAGGGGAAAGACAGAGAGAAAGTAATGTGCTTTTCCCCCAATGTCTTAGATCTGTAGCTGTACTGAATGAAGAATAATGTTCCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTCTCACTCCTTGAAACCCCAGAGGGTTTGTCCTGGAGCTCTCTTTGCAACATAGTACTCACTTCGAAGTCTCCAGTT... |
Task1_train_31972 | A variant on Chromosome X in gene F8 (coagulation factor VIII) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not specified | AATGTTCCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTCTCACTCCTTGAAACCCCAGAGGGTTTGTCCTGGAGCTCTCTTTGCAACATAGTACTCACTTCGAAGTCTCCAGTTATGTTTTAATTCAGGTTAAGGAATACTAGAGTGGGGAAAAAGGTATACTCCCCCACAAGTTTGGTAATACTTTCAATTCTA... | AATGTTCCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTCTCACTCCTTGAAACCCCAGAGGGTTTGTCCTGGAGCTCTCTTTGCAACATAGTACTCACTTCGAAGTCTCCAGTTATGTTTTAATTCAGGTTAAGGAATACTAGAGTGGGGAAAAAGGTATACTCCCCCACAAGTTTGGTAATACTTTCAATTCTA... |
Task1_train_31973 | 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 | CCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTCTCACTCCTTGAAACCCCAGAGGGTTTGTCCTGGAGCTCTCTTTGCAACATAGTACTCACTTCGAAGTCTCCAGTTATGTTTTAATTCAGGTTAAGGAATACTAGAGTGGGGAAAAAGGTATACTCCCCCACAAGTTTGGTAATACTTTCAATTCTAGTGTCT... | CCCCTCCCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTCTCACTCCTTGAAACCCCAGAGGGTTTGTCCTGGAGCTCTCTTTGCAACATAGTACTCACTTCGAAGTCTCCAGTTATGTTTTAATTCAGGTTAAGGAATACTAGAGTGGGGAAAAAGGTATACTCCCCCACAAGTTTGGTAATACTTTCAATTCTAGTGTCT... |
Task1_train_31974 | Consider a variant on Chromosome X in gene F8 (coagulation factor VIII). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary factor VIII deficiency disease | CCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTCTCACTCCTTGAAACCCCAGAGGGTTTGTCCTGGAGCTCTCTTTGCAACATAGTACTCACTTCGAAGTCTCCAGTTATGTTTTAATTCAGGTTAAGGAATACTAGAGTGGGGAAAAAGGTATACTCCCCCACAAGTTTGGTAATACTTTCAATTCTAGTGTCTTTTCTC... | CCTAAGTTTTTACTCCGGCAGGTTTCTGTTGCCAGCCACTGTCATTGCCACAGGCAACCTGGGACTGAAGCTTGAGAGAATGGTGGAAAAGAGGACAAAAACCCTAGGGGATTTCCCCTCCCACGCTCTCTGAGCATTTAGAGTTACCTTTCTCACTCCTTGAAACCCCAGAGGGTTTGTCCTGGAGCTCTCTTTGCAACATAGTACTCACTTCGAAGTCTCCAGTTATGTTTTAATTCAGGTTAAGGAATACTAGAGTGGGGAAAAAGGTATACTCCCCCACAAGTTTGGTAATACTTTCAATTCTAGTGTCTTTTCTC... |
Task1_train_31975 | 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 | TTACAATATGTATCTCTATTATATAAGTGTTGTTTTTAATGTGATCATTATTTTTTCAATGATCAATTACTTTGAACTTTGACAATGAGAGCCTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAG... | TTACAATATGTATCTCTATTATATAAGTGTTGTTTTTAATGTGATCATTATTTTTTCAATGATCAATTACTTTGAACTTTGACAATGAGAGCCTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAG... |
Task1_train_31976 | 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 | ATGTGATCATTATTTTTTCAATGATCAATTACTTTGAACTTTGACAATGAGAGCCTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTG... | ATGTGATCATTATTTTTTCAATGATCAATTACTTTGAACTTTGACAATGAGAGCCTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTG... |
Task1_train_31977 | 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 | GATCAATTACTTTGAACTTTGACAATGAGAGCCTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGG... | GATCAATTACTTTGAACTTTGACAATGAGAGCCTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGG... |
Task1_train_31978 | This variant impacts the gene F8 (coagulation factor VIII) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Thrombophilia, X-linked, due to factor 8 defect | ATTACTTTGAACTTTGACAATGAGAGCCTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGGAGAGG... | ATTACTTTGAACTTTGACAATGAGAGCCTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGGAGAGG... |
Task1_train_31979 | A sequence alteration has been identified in F8 (coagulation factor VIII) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; not specified | ATTACTTTGAACTTTGACAATGAGAGCCTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGGAGAGG... | ATTACTTTGAACTTTGACAATGAGAGCCTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGGAGAGG... |
Task1_train_31980 | 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 | TTTGACAATGAGAGCCTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGGAGAGGGAGAGTAAATGG... | TTTGACAATGAGAGCCTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGGAGAGGGAGAGTAAATGG... |
Task1_train_31981 | 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 | GAGAGCCTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGGAGAGGGAGAGTAAATGGATTAGGGGA... | GAGAGCCTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGGAGAGGGAGAGTAAATGGATTAGGGGA... |
Task1_train_31982 | 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; Hereditary factor VIII deficiency disease | CTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGGAGAGGGAGAGTAAATGGATTAGGGGAAATGTA... | CTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGGAGAGGGAGAGTAAATGGATTAGGGGAAATGTA... |
Task1_train_31983 | This alteration in F8 (coagulation factor VIII) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary factor VIII deficiency disease | CTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGGAGAGGGAGAGTAAATGGATTAGGGGAAATGTA... | CTTTTCCTGCCAGCCCCATAGAGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGGAGAGGGAGAGTAAATGGATTAGGGGAAATGTA... |
Task1_train_31984 | 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 | AGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGGAGAGGGAGAGTAAATGGATTAGGGGAAATGTAGCAGTAGAATGGCTAGGCAAT... | AGGAGTACAGACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGGAGAGGGAGAGTAAATGGATTAGGGGAAATGTAGCAGTAGAATGGCTAGGCAAT... |
Task1_train_31985 | This alteration in F8 (coagulation factor VIII) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary factor VIII deficiency disease | GACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGGAGAGGGAGAGTAAATGGATTAGGGGAAATGTAGCAGTAGAATGGCTAGGCAATGCTGAAGGC... | GACTGTATGTAAAATGCTTAATTTTGTAAAATAAATTAAGCAAAGATGACAAAATGTTAAGATTTGGCAAAGTGAGGTGATGGGCACATGTTTGTTTGTTATATTATTTTCTGTATTTATCTTTGTTTGAAATATTTCATTAGGAAAAAAATACCCTTTTTCCCAAGGCTCACGTTGTGGTGGGGGCAGGGGCGGGAGCACATGTTGGAGGTTCAATGAGAGGCTAACAATGTGTGAAACATTATAGCTGTCTTGGGGAGAGGGAGAGTAAATGGATTAGGGGAAATGTAGCAGTAGAATGGCTAGGCAATGCTGAAGGC... |
Task1_train_31986 | 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; Thrombophilia, X-linked, due to factor 8 defect | AATGCATATAAAAAGCGAAACAGTAAACATCTTGCAAGAAAATCTGGGAGATTACACGTACAATCTTGAGGTGTGGGAAACATTTTTAACCAACCTTGCCGACTCTGAAGATATGAAAGAAAAGATATCTCTGATTATAAAAATTAAAAACTGTTTTGGTAAAAGTTATAAGAAAGTCAACAGACAAACAATAGATCTTGGGGAAAACTGCAATATACATGACAAAGAGTTAATATTTGTAATAATAAAAGGGTTCTCATAATTTTTTTAAATGAAAGAGTCCAAAGAATAATGGGCAAATCATATGACTAATTAAATCC... | AATGCATATAAAAAGCGAAACAGTAAACATCTTGCAAGAAAATCTGGGAGATTACACGTACAATCTTGAGGTGTGGGAAACATTTTTAACCAACCTTGCCGACTCTGAAGATATGAAAGAAAAGATATCTCTGATTATAAAAATTAAAAACTGTTTTGGTAAAAGTTATAAGAAAGTCAACAGACAAACAATAGATCTTGGGGAAAACTGCAATATACATGACAAAGAGTTAATATTTGTAATAATAAAAGGGTTCTCATAATTTTTTTAAATGAAAGAGTCCAAAGAATAATGGGCAAATCATATGACTAATTAAATCC... |
Task1_train_31987 | 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 | AAACAGTAAACATCTTGCAAGAAAATCTGGGAGATTACACGTACAATCTTGAGGTGTGGGAAACATTTTTAACCAACCTTGCCGACTCTGAAGATATGAAAGAAAAGATATCTCTGATTATAAAAATTAAAAACTGTTTTGGTAAAAGTTATAAGAAAGTCAACAGACAAACAATAGATCTTGGGGAAAACTGCAATATACATGACAAAGAGTTAATATTTGTAATAATAAAAGGGTTCTCATAATTTTTTTAAATGAAAGAGTCCAAAGAATAATGGGCAAATCATATGACTAATTAAATCCCCCAAATAAATCCAATA... | AAACAGTAAACATCTTGCAAGAAAATCTGGGAGATTACACGTACAATCTTGAGGTGTGGGAAACATTTTTAACCAACCTTGCCGACTCTGAAGATATGAAAGAAAAGATATCTCTGATTATAAAAATTAAAAACTGTTTTGGTAAAAGTTATAAGAAAGTCAACAGACAAACAATAGATCTTGGGGAAAACTGCAATATACATGACAAAGAGTTAATATTTGTAATAATAAAAGGGTTCTCATAATTTTTTTAAATGAAAGAGTCCAAAGAATAATGGGCAAATCATATGACTAATTAAATCCCCCAAATAAATCCAATA... |
Task1_train_31988 | 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 | TGCAAGAAAATCTGGGAGATTACACGTACAATCTTGAGGTGTGGGAAACATTTTTAACCAACCTTGCCGACTCTGAAGATATGAAAGAAAAGATATCTCTGATTATAAAAATTAAAAACTGTTTTGGTAAAAGTTATAAGAAAGTCAACAGACAAACAATAGATCTTGGGGAAAACTGCAATATACATGACAAAGAGTTAATATTTGTAATAATAAAAGGGTTCTCATAATTTTTTTAAATGAAAGAGTCCAAAGAATAATGGGCAAATCATATGACTAATTAAATCCCCCAAATAAATCCAATAGCCAACAAGCATTTA... | TGCAAGAAAATCTGGGAGATTACACGTACAATCTTGAGGTGTGGGAAACATTTTTAACCAACCTTGCCGACTCTGAAGATATGAAAGAAAAGATATCTCTGATTATAAAAATTAAAAACTGTTTTGGTAAAAGTTATAAGAAAGTCAACAGACAAACAATAGATCTTGGGGAAAACTGCAATATACATGACAAAGAGTTAATATTTGTAATAATAAAAGGGTTCTCATAATTTTTTTAAATGAAAGAGTCCAAAGAATAATGGGCAAATCATATGACTAATTAAATCCCCCAAATAAATCCAATAGCCAACAAGCATTTA... |
Task1_train_31989 | 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 | TGGGAGATTACACGTACAATCTTGAGGTGTGGGAAACATTTTTAACCAACCTTGCCGACTCTGAAGATATGAAAGAAAAGATATCTCTGATTATAAAAATTAAAAACTGTTTTGGTAAAAGTTATAAGAAAGTCAACAGACAAACAATAGATCTTGGGGAAAACTGCAATATACATGACAAAGAGTTAATATTTGTAATAATAAAAGGGTTCTCATAATTTTTTTAAATGAAAGAGTCCAAAGAATAATGGGCAAATCATATGACTAATTAAATCCCCCAAATAAATCCAATAGCCAACAAGCATTTAAAAAGATGCTCA... | TGGGAGATTACACGTACAATCTTGAGGTGTGGGAAACATTTTTAACCAACCTTGCCGACTCTGAAGATATGAAAGAAAAGATATCTCTGATTATAAAAATTAAAAACTGTTTTGGTAAAAGTTATAAGAAAGTCAACAGACAAACAATAGATCTTGGGGAAAACTGCAATATACATGACAAAGAGTTAATATTTGTAATAATAAAAGGGTTCTCATAATTTTTTTAAATGAAAGAGTCCAAAGAATAATGGGCAAATCATATGACTAATTAAATCCCCCAAATAAATCCAATAGCCAACAAGCATTTAAAAAGATGCTCA... |
Task1_train_31990 | With a mutation on Chromosome X in gene RAB39B (RAB39B, member RAS oncogene family), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Parkinson disease, X-linked dominant | TTGTGTTAATGAAATTTGCCATGTTTTGTTTGTCTTTTACAACCACGAAGGTGGCAATTTAATTACCCCACCTAAGCCAGCTCTTGTGAAATGAATATAGAGAAGATGATCAGTTCACTTGTAGTTAATGCTGTGAACTGATCCAAAGTGGTTTGCTCATCCAACTTGGGGCACAGGTGGCAGAATAGTCTTCCATAATTTTCATGATTTGGTTTCTTTATTCTGGCTAAAGCAAATTCCCAAAGTTTCAGATTCGGTCACATTCATACTGAAGTTCAATATTATATCTCAAAGCGATTTGCCATTCTTAGGCCTTCCTA... | TTGTGTTAATGAAATTTGCCATGTTTTGTTTGTCTTTTACAACCACGAAGGTGGCAATTTAATTACCCCACCTAAGCCAGCTCTTGTGAAATGAATATAGAGAAGATGATCAGTTCACTTGTAGTTAATGCTGTGAACTGATCCAAAGTGGTTTGCTCATCCAACTTGGGGCACAGGTGGCAGAATAGTCTTCCATAATTTTCATGATTTGGTTTCTTTATTCTGGCTAAAGCAAATTCCCAAAGTTTCAGATTCGGTCACATTCATACTGAAGTTCAATATTATATCTCAAAGCGATTTGCCATTCTTAGGCCTTCCTA... |
Task1_train_31991 | A variant was discovered on Chromosome X, affecting RAB39B (RAB39B, member RAS oncogene family). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | CTAAGCCAGCTCTTGTGAAATGAATATAGAGAAGATGATCAGTTCACTTGTAGTTAATGCTGTGAACTGATCCAAAGTGGTTTGCTCATCCAACTTGGGGCACAGGTGGCAGAATAGTCTTCCATAATTTTCATGATTTGGTTTCTTTATTCTGGCTAAAGCAAATTCCCAAAGTTTCAGATTCGGTCACATTCATACTGAAGTTCAATATTATATCTCAAAGCGATTTGCCATTCTTAGGCCTTCCTATCACAATGGATATGAGAAACCTGACTCTAGTCAGAATAGTTTTTTTTTTTAATTGTGAAAAGTATGGCTTT... | CTAAGCCAGCTCTTGTGAAATGAATATAGAGAAGATGATCAGTTCACTTGTAGTTAATGCTGTGAACTGATCCAAAGTGGTTTGCTCATCCAACTTGGGGCACAGGTGGCAGAATAGTCTTCCATAATTTTCATGATTTGGTTTCTTTATTCTGGCTAAAGCAAATTCCCAAAGTTTCAGATTCGGTCACATTCATACTGAAGTTCAATATTATATCTCAAAGCGATTTGCCATTCTTAGGCCTTCCTATCACAATGGATATGAGAAACCTGACTCTAGTCAGAATAGTTTTTTTTTTTAATTGTGAAAAGTATGGCTTT... |
Task1_train_31992 | The gene LOC130068896, RAB39B (ATAC-STARR-seq lymphoblastoid silent region 21124| RAB39B, member RAS oncogene family) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | ACGAAGGACTCAATAGCTTAGAGAAAATGGCTCAATGTTAGCAGAACAAGCATTGTCCAGGGACCTACAGTCCAAGCTAGATGATGGTAAAAGTAAAACTTACAAATGACTTTAAGTCTCCAAAATCAGGCAAATCAGCCCTGGGGACTGAAAGCATTTCTCGTCTCTTAGGTTTGAAGATTCATGGAGAATGGTAGATTTACCAGAAAATTTAGACATGAACAAACAAAGGTTTTGATTTGTGAGAAGGTTGATTCAAGAAATCAACAAGCAAGCTGTAGATCACTGTCAAAACTCTGGAATATATTATTACATTAATT... | ACGAAGGACTCAATAGCTTAGAGAAAATGGCTCAATGTTAGCAGAACAAGCATTGTCCAGGGACCTACAGTCCAAGCTAGATGATGGTAAAAGTAAAACTTACAAATGACTTTAAGTCTCCAAAATCAGGCAAATCAGCCCTGGGGACTGAAAGCATTTCTCGTCTCTTAGGTTTGAAGATTCATGGAGAATGGTAGATTTACCAGAAAATTTAGACATGAACAAACAAAGGTTTTGATTTGTGAGAAGGTTGATTCAAGAAATCAACAAGCAAGCTGTAGATCACTGTCAAAACTCTGGAATATATTATTACATTAATT... |
Task1_train_31993 | A variant on Chromosome Y in gene SRY (sex determining region Y) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; 46,XY sex reversal 1 | TATTAAGCAAAAGAAGCTCCACATAATATTTTGTATTTATATTTATTCACATTGTTAAGGAAAAATGGTATTCAGTGATACTTGTTCAAACTTGATAAGGAAGACTATTCACGACCAACAGCACAGCAATGAGGTCTTGCACTGGGGGAGAGATTGGCCTTAGCTCCACATACACAGCTGGGTAGGTGGGGATTTATAGCCAAGGAGCAGGGAGTAGGGTCAATGGATGGACAATCACTAAGAGAAGACATCATAGATAAGGAGGATTCTTGCTGAAGACAGGCTAGGCTGATCAGACATCACCTAGAGGGTGGTGGAGG... | TATTAAGCAAAAGAAGCTCCACATAATATTTTGTATTTATATTTATTCACATTGTTAAGGAAAAATGGTATTCAGTGATACTTGTTCAAACTTGATAAGGAAGACTATTCACGACCAACAGCACAGCAATGAGGTCTTGCACTGGGGGAGAGATTGGCCTTAGCTCCACATACACAGCTGGGTAGGTGGGGATTTATAGCCAAGGAGCAGGGAGTAGGGTCAATGGATGGACAATCACTAAGAGAAGACATCATAGATAAGGAGGATTCTTGCTGAAGACAGGCTAGGCTGATCAGACATCACCTAGAGGGTGGTGGAGG... |
Task1_train_31994 | The gene SRY (sex determining region Y) is located on Chromosome Y, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; 46,XY sex reversal 1 | TCCACATAATATTTTGTATTTATATTTATTCACATTGTTAAGGAAAAATGGTATTCAGTGATACTTGTTCAAACTTGATAAGGAAGACTATTCACGACCAACAGCACAGCAATGAGGTCTTGCACTGGGGGAGAGATTGGCCTTAGCTCCACATACACAGCTGGGTAGGTGGGGATTTATAGCCAAGGAGCAGGGAGTAGGGTCAATGGATGGACAATCACTAAGAGAAGACATCATAGATAAGGAGGATTCTTGCTGAAGACAGGCTAGGCTGATCAGACATCACCTAGAGGGTGGTGGAGGATGAGAAACCTGATCAG... | TCCACATAATATTTTGTATTTATATTTATTCACATTGTTAAGGAAAAATGGTATTCAGTGATACTTGTTCAAACTTGATAAGGAAGACTATTCACGACCAACAGCACAGCAATGAGGTCTTGCACTGGGGGAGAGATTGGCCTTAGCTCCACATACACAGCTGGGTAGGTGGGGATTTATAGCCAAGGAGCAGGGAGTAGGGTCAATGGATGGACAATCACTAAGAGAAGACATCATAGATAAGGAGGATTCTTGCTGAAGACAGGCTAGGCTGATCAGACATCACCTAGAGGGTGGTGGAGGATGAGAAACCTGATCAG... |
Task1_train_31995 | This is a variant in SRY (sex determining region Y), located on Chromosome Y. Is this mutation a likely cause of disease or not? | Pathogenic; 46,XY sex reversal 1 | TCCACATAATATTTTGTATTTATATTTATTCACATTGTTAAGGAAAAATGGTATTCAGTGATACTTGTTCAAACTTGATAAGGAAGACTATTCACGACCAACAGCACAGCAATGAGGTCTTGCACTGGGGGAGAGATTGGCCTTAGCTCCACATACACAGCTGGGTAGGTGGGGATTTATAGCCAAGGAGCAGGGAGTAGGGTCAATGGATGGACAATCACTAAGAGAAGACATCATAGATAAGGAGGATTCTTGCTGAAGACAGGCTAGGCTGATCAGACATCACCTAGAGGGTGGTGGAGGATGAGAAACCTGATCAG... | TCCACATAATATTTTGTATTTATATTTATTCACATTGTTAAGGAAAAATGGTATTCAGTGATACTTGTTCAAACTTGATAAGGAAGACTATTCACGACCAACAGCACAGCAATGAGGTCTTGCACTGGGGGAGAGATTGGCCTTAGCTCCACATACACAGCTGGGTAGGTGGGGATTTATAGCCAAGGAGCAGGGAGTAGGGTCAATGGATGGACAATCACTAAGAGAAGACATCATAGATAAGGAGGATTCTTGCTGAAGACAGGCTAGGCTGATCAGACATCACCTAGAGGGTGGTGGAGGATGAGAAACCTGATCAG... |
Task1_train_31996 | A mutation found in SRY (sex determining region Y) on Chromosome Y may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; 46,XY sex reversal 1 | AAAAATGGTATTCAGTGATACTTGTTCAAACTTGATAAGGAAGACTATTCACGACCAACAGCACAGCAATGAGGTCTTGCACTGGGGGAGAGATTGGCCTTAGCTCCACATACACAGCTGGGTAGGTGGGGATTTATAGCCAAGGAGCAGGGAGTAGGGTCAATGGATGGACAATCACTAAGAGAAGACATCATAGATAAGGAGGATTCTTGCTGAAGACAGGCTAGGCTGATCAGACATCACCTAGAGGGTGGTGGAGGATGAGAAACCTGATCAGATATTGAGGGTGATCGATCAAGTGTTGAGTGTGATCAGATATG... | AAAAATGGTATTCAGTGATACTTGTTCAAACTTGATAAGGAAGACTATTCACGACCAACAGCACAGCAATGAGGTCTTGCACTGGGGGAGAGATTGGCCTTAGCTCCACATACACAGCTGGGTAGGTGGGGATTTATAGCCAAGGAGCAGGGAGTAGGGTCAATGGATGGACAATCACTAAGAGAAGACATCATAGATAAGGAGGATTCTTGCTGAAGACAGGCTAGGCTGATCAGACATCACCTAGAGGGTGGTGGAGGATGAGAAACCTGATCAGATATTGAGGGTGATCGATCAAGTGTTGAGTGTGATCAGATATG... |
Task1_train_31997 | The following genetic variant occurs in SRY (sex determining region Y) on Chromosome Y. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; 46,XY sex reversal 1 | TCAGTGATACTTGTTCAAACTTGATAAGGAAGACTATTCACGACCAACAGCACAGCAATGAGGTCTTGCACTGGGGGAGAGATTGGCCTTAGCTCCACATACACAGCTGGGTAGGTGGGGATTTATAGCCAAGGAGCAGGGAGTAGGGTCAATGGATGGACAATCACTAAGAGAAGACATCATAGATAAGGAGGATTCTTGCTGAAGACAGGCTAGGCTGATCAGACATCACCTAGAGGGTGGTGGAGGATGAGAAACCTGATCAGATATTGAGGGTGATCGATCAAGTGTTGAGTGTGATCAGATATGCGGTGGGGGTA... | TCAGTGATACTTGTTCAAACTTGATAAGGAAGACTATTCACGACCAACAGCACAGCAATGAGGTCTTGCACTGGGGGAGAGATTGGCCTTAGCTCCACATACACAGCTGGGTAGGTGGGGATTTATAGCCAAGGAGCAGGGAGTAGGGTCAATGGATGGACAATCACTAAGAGAAGACATCATAGATAAGGAGGATTCTTGCTGAAGACAGGCTAGGCTGATCAGACATCACCTAGAGGGTGGTGGAGGATGAGAAACCTGATCAGATATTGAGGGTGATCGATCAAGTGTTGAGTGTGATCAGATATGCGGTGGGGGTA... |
Task1_train_31998 | A mutation on Chromosome Y affecting SRY (sex determining region Y) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; 46,XY sex reversal 1 | CTTGTTCAAACTTGATAAGGAAGACTATTCACGACCAACAGCACAGCAATGAGGTCTTGCACTGGGGGAGAGATTGGCCTTAGCTCCACATACACAGCTGGGTAGGTGGGGATTTATAGCCAAGGAGCAGGGAGTAGGGTCAATGGATGGACAATCACTAAGAGAAGACATCATAGATAAGGAGGATTCTTGCTGAAGACAGGCTAGGCTGATCAGACATCACCTAGAGGGTGGTGGAGGATGAGAAACCTGATCAGATATTGAGGGTGATCGATCAAGTGTTGAGTGTGATCAGATATGCGGTGGGGGTACAGTCTGGC... | CTTGTTCAAACTTGATAAGGAAGACTATTCACGACCAACAGCACAGCAATGAGGTCTTGCACTGGGGGAGAGATTGGCCTTAGCTCCACATACACAGCTGGGTAGGTGGGGATTTATAGCCAAGGAGCAGGGAGTAGGGTCAATGGATGGACAATCACTAAGAGAAGACATCATAGATAAGGAGGATTCTTGCTGAAGACAGGCTAGGCTGATCAGACATCACCTAGAGGGTGGTGGAGGATGAGAAACCTGATCAGATATTGAGGGTGATCGATCAAGTGTTGAGTGTGATCAGATATGCGGTGGGGGTACAGTCTGGC... |
Task1_train_31999 | The gene SRY (sex determining region Y) on Chromosome Y contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; 46,XY sex reversal 1 | ACCAACAGCACAGCAATGAGGTCTTGCACTGGGGGAGAGATTGGCCTTAGCTCCACATACACAGCTGGGTAGGTGGGGATTTATAGCCAAGGAGCAGGGAGTAGGGTCAATGGATGGACAATCACTAAGAGAAGACATCATAGATAAGGAGGATTCTTGCTGAAGACAGGCTAGGCTGATCAGACATCACCTAGAGGGTGGTGGAGGATGAGAAACCTGATCAGATATTGAGGGTGATCGATCAAGTGTTGAGTGTGATCAGATATGCGGTGGGGGTACAGTCTGGCTAACCTGGCTTAGGAGAGTTCTTTGCCAAAACT... | ACCAACAGCACAGCAATGAGGTCTTGCACTGGGGGAGAGATTGGCCTTAGCTCCACATACACAGCTGGGTAGGTGGGGATTTATAGCCAAGGAGCAGGGAGTAGGGTCAATGGATGGACAATCACTAAGAGAAGACATCATAGATAAGGAGGATTCTTGCTGAAGACAGGCTAGGCTGATCAGACATCACCTAGAGGGTGGTGGAGGATGAGAAACCTGATCAGATATTGAGGGTGATCGATCAAGTGTTGAGTGTGATCAGATATGCGGTGGGGGTACAGTCTGGCTAACCTGGCTTAGGAGAGTTCTTTGCCAAAACT... |
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