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_16700 | Located on Chromosome 11, this mutation impacts SDHD (succinate dehydrogenase complex subunit D). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Carney-Stratakis syndrome | CTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCT... | CTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCT... |
Task1_train_16701 | This alteration occurs within gene SDHD (succinate dehydrogenase complex subunit D) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Cowden syndrome 3 | CTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCT... | CTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCT... |
Task1_train_16702 | This genomic variant is located on Chromosome 11, within the SDHD (succinate dehydrogenase complex subunit D) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Paragangliomas with sensorineural hearing loss | CTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCT... | CTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCT... |
Task1_train_16703 | Located on Chromosome 11, this mutation impacts SDHD (succinate dehydrogenase complex subunit D). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hereditary cancer-predisposing syndrome | CTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCT... | CTGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCT... |
Task1_train_16704 | Mutation context: Chromosome 11, Gene SDHD (succinate dehydrogenase complex subunit D). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not specified | TGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTT... | TGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTT... |
Task1_train_16705 | Given a variant located on Chromosome 11 and affecting SDHD (succinate dehydrogenase complex subunit D), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | TGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTT... | TGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTT... |
Task1_train_16706 | Consider this mutation in SDHD (succinate dehydrogenase complex subunit D) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Pheochromocytoma | TGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTT... | TGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTT... |
Task1_train_16707 | A variant has been detected on Chromosome 11 in SDHD (succinate dehydrogenase complex subunit D). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Paragangliomas with sensorineural hearing loss | TGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTT... | TGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTT... |
Task1_train_16708 | A variant on Chromosome 11 in gene SDHD (succinate dehydrogenase complex subunit D) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Cowden syndrome 3 | TGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTT... | TGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTT... |
Task1_train_16709 | Given a variant located on Chromosome 11 and affecting SDHD (succinate dehydrogenase complex subunit D), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Carney-Stratakis syndrome | TGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTT... | TGAAAACGTGTCCACGCAAAAAACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTT... |
Task1_train_16710 | Consider a variant on Chromosome 11 in gene SDHD (succinate dehydrogenase complex subunit D). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary cancer-predisposing syndrome | ACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCGGCACGATCTCGGCTCA... | ACTTGTACAGGAATGATCATAGCAGCATTATTTATAATAGCCAAAGAGTGGAAACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCGGCACGATCTCGGCTCA... |
Task1_train_16711 | Chromosome 11 houses a mutation in gene SDHD (succinate dehydrogenase complex subunit D). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Paragangliomas 1 | AACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCGGCACGATCTCGGCTCAGCACGATCTCAGCTTACTGCAACCTCCGCCTTTCGGGTTCAAGCGATTCTCC... | AACAATCCAAATGGCTGTCAGTGGATGAATAGCTAAACAAAATATGGTGTATTCATACAATAGAATATTATTCAGCCATACAAAGGAATGATGTATTGATAAATGCTATGACATGGATGAACATTGAAAACATTATGCTAAGTTGACACAAAGGCCATATATTGTATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCGCTCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCGGCACGATCTCGGCTCAGCACGATCTCAGCTTACTGCAACCTCCGCCTTTCGGGTTCAAGCGATTCTCC... |
Task1_train_16712 | The gene LOC130006765, PTS (ATAC-STARR-seq lymphoblastoid silent region 3906| 6-pyruvoyltetrahydropterin synthase) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | TTTTAAAGAAACGGTATTAATCCTAAGCAAAAAGAACAAAGCTGGAGGCATCACGCTACCTGACTTCGAACTATACTACAAGCCTACAGTAACAAAAACAGCATGGTATGGGTACCAAAACAGATATATACACCAATGGAACACAACAGAGGCCTCAGAAATAACACCACACATCTACAACCATCTGATCTTAGACAAACCTGATAAAAACAAGAAATGGGGAAAGGATTCCCTATTAAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTACACAAAAATTA... | TTTTAAAGAAACGGTATTAATCCTAAGCAAAAAGAACAAAGCTGGAGGCATCACGCTACCTGACTTCGAACTATACTACAAGCCTACAGTAACAAAAACAGCATGGTATGGGTACCAAAACAGATATATACACCAATGGAACACAACAGAGGCCTCAGAAATAACACCACACATCTACAACCATCTGATCTTAGACAAACCTGATAAAAACAAGAAATGGGGAAAGGATTCCCTATTAAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTACACAAAAATTA... |
Task1_train_16713 | Assess the clinical impact of this variant on gene LOC130006765, PTS (ATAC-STARR-seq lymphoblastoid silent region 3906| 6-pyruvoyltetrahydropterin synthase), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | ATACTACAAGCCTACAGTAACAAAAACAGCATGGTATGGGTACCAAAACAGATATATACACCAATGGAACACAACAGAGGCCTCAGAAATAACACCACACATCTACAACCATCTGATCTTAGACAAACCTGATAAAAACAAGAAATGGGGAAAGGATTCCCTATTAAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTACACAAAAATTAACTCAAGATGGATTAAAGACTTAAATATCAGACCGAAAACCATAAAAACCCTAGAAGAAAGCCTAGGCAATG... | ATACTACAAGCCTACAGTAACAAAAACAGCATGGTATGGGTACCAAAACAGATATATACACCAATGGAACACAACAGAGGCCTCAGAAATAACACCACACATCTACAACCATCTGATCTTAGACAAACCTGATAAAAACAAGAAATGGGGAAAGGATTCCCTATTAAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTACACAAAAATTAACTCAAGATGGATTAAAGACTTAAATATCAGACCGAAAACCATAAAAACCCTAGAAGAAAGCCTAGGCAATG... |
Task1_train_16714 | This mutation is located in gene LOC130006765, PTS (ATAC-STARR-seq lymphoblastoid silent region 3906| 6-pyruvoyltetrahydropterin synthase) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | TACTACAAGCCTACAGTAACAAAAACAGCATGGTATGGGTACCAAAACAGATATATACACCAATGGAACACAACAGAGGCCTCAGAAATAACACCACACATCTACAACCATCTGATCTTAGACAAACCTGATAAAAACAAGAAATGGGGAAAGGATTCCCTATTAAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTACACAAAAATTAACTCAAGATGGATTAAAGACTTAAATATCAGACCGAAAACCATAAAAACCCTAGAAGAAAGCCTAGGCAATGC... | TACTACAAGCCTACAGTAACAAAAACAGCATGGTATGGGTACCAAAACAGATATATACACCAATGGAACACAACAGAGGCCTCAGAAATAACACCACACATCTACAACCATCTGATCTTAGACAAACCTGATAAAAACAAGAAATGGGGAAAGGATTCCCTATTAAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTACACAAAAATTAACTCAAGATGGATTAAAGACTTAAATATCAGACCGAAAACCATAAAAACCCTAGAAGAAAGCCTAGGCAATGC... |
Task1_train_16715 | A genomic change on Chromosome 11 affects PTS (6-pyruvoyltetrahydropterin synthase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency | GGCGTGCTGACGTCGGGCCCGGGAGGGGCGCGGGGGCTGCTGGGGCGACGCGCGCTGGTCGGCTTCGTGGGGCTTCGGACGGCCTCCAGCATCCTGATGGGGGCTGGAGTGTCCCCAGCCCTGGAGGGGTGGGGGAGCTTGATGGTTAACGGAGCCGACTGCGGAGGGCGATGGCCCACGTCTGGGTGCGGGGCCCACACCCGGTTCTGCGACTCGAAGAAACGTCTCTGCCCCTAGGAGTCCCTTGGTGTAGACCACAGGGTTGCTGTGAAACTCAGCAGTGTTAAACTCGCCTATGTTACACAGTACCTGGCGCGGCG... | GGCGTGCTGACGTCGGGCCCGGGAGGGGCGCGGGGGCTGCTGGGGCGACGCGCGCTGGTCGGCTTCGTGGGGCTTCGGACGGCCTCCAGCATCCTGATGGGGGCTGGAGTGTCCCCAGCCCTGGAGGGGTGGGGGAGCTTGATGGTTAACGGAGCCGACTGCGGAGGGCGATGGCCCACGTCTGGGTGCGGGGCCCACACCCGGTTCTGCGACTCGAAGAAACGTCTCTGCCCCTAGGAGTCCCTTGGTGTAGACCACAGGGTTGCTGTGAAACTCAGCAGTGTTAAACTCGCCTATGTTACACAGTACCTGGCGCGGCG... |
Task1_train_16716 | With a mutation on Chromosome 11 in gene PTS (6-pyruvoyltetrahydropterin synthase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | GCCCGGGAGGGGCGCGGGGGCTGCTGGGGCGACGCGCGCTGGTCGGCTTCGTGGGGCTTCGGACGGCCTCCAGCATCCTGATGGGGGCTGGAGTGTCCCCAGCCCTGGAGGGGTGGGGGAGCTTGATGGTTAACGGAGCCGACTGCGGAGGGCGATGGCCCACGTCTGGGTGCGGGGCCCACACCCGGTTCTGCGACTCGAAGAAACGTCTCTGCCCCTAGGAGTCCCTTGGTGTAGACCACAGGGTTGCTGTGAAACTCAGCAGTGTTAAACTCGCCTATGTTACACAGTACCTGGCGCGGCGTAGACACTCAGTAAAT... | GCCCGGGAGGGGCGCGGGGGCTGCTGGGGCGACGCGCGCTGGTCGGCTTCGTGGGGCTTCGGACGGCCTCCAGCATCCTGATGGGGGCTGGAGTGTCCCCAGCCCTGGAGGGGTGGGGGAGCTTGATGGTTAACGGAGCCGACTGCGGAGGGCGATGGCCCACGTCTGGGTGCGGGGCCCACACCCGGTTCTGCGACTCGAAGAAACGTCTCTGCCCCTAGGAGTCCCTTGGTGTAGACCACAGGGTTGCTGTGAAACTCAGCAGTGTTAAACTCGCCTATGTTACACAGTACCTGGCGCGGCGTAGACACTCAGTAAAT... |
Task1_train_16717 | A variant on Chromosome 11 in gene PTS (6-pyruvoyltetrahydropterin synthase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | CAGTAAATTTCTAAGTGATGAAGAAAACTTGAAACTGTTTGGGAAATGCAACAATCCAAATGGCCATGGGCACAATTATAAAGGTGAGAGAAAAACTGATGACATTTCAGCCCTTCAATAAGGATGAAAGAGTATTCAGCAAATGTAGACATAAAGAATGGGAAAACTTACGGACACAGTGTGAATGCTTTGAGCCTTGAATGAGAAATTAAATGGGAGTTCAGAATGAAAGGATCTGTTGTCTTGGTTGGGTGTGTGTTAAGTTTTACCTTGCAATGTCAACTCTTACAAACAGTCCAAAACAATGAATGGTTTAAAGC... | CAGTAAATTTCTAAGTGATGAAGAAAACTTGAAACTGTTTGGGAAATGCAACAATCCAAATGGCCATGGGCACAATTATAAAGGTGAGAGAAAAACTGATGACATTTCAGCCCTTCAATAAGGATGAAAGAGTATTCAGCAAATGTAGACATAAAGAATGGGAAAACTTACGGACACAGTGTGAATGCTTTGAGCCTTGAATGAGAAATTAAATGGGAGTTCAGAATGAAAGGATCTGTTGTCTTGGTTGGGTGTGTGTTAAGTTTTACCTTGCAATGTCAACTCTTACAAACAGTCCAAAACAATGAATGGTTTAAAGC... |
Task1_train_16718 | An alteration has been detected in PTS (6-pyruvoyltetrahydropterin synthase) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | CAGTAAATTTCTAAGTGATGAAGAAAACTTGAAACTGTTTGGGAAATGCAACAATCCAAATGGCCATGGGCACAATTATAAAGGTGAGAGAAAAACTGATGACATTTCAGCCCTTCAATAAGGATGAAAGAGTATTCAGCAAATGTAGACATAAAGAATGGGAAAACTTACGGACACAGTGTGAATGCTTTGAGCCTTGAATGAGAAATTAAATGGGAGTTCAGAATGAAAGGATCTGTTGTCTTGGTTGGGTGTGTGTTAAGTTTTACCTTGCAATGTCAACTCTTACAAACAGTCCAAAACAATGAATGGTTTAAAGC... | CAGTAAATTTCTAAGTGATGAAGAAAACTTGAAACTGTTTGGGAAATGCAACAATCCAAATGGCCATGGGCACAATTATAAAGGTGAGAGAAAAACTGATGACATTTCAGCCCTTCAATAAGGATGAAAGAGTATTCAGCAAATGTAGACATAAAGAATGGGAAAACTTACGGACACAGTGTGAATGCTTTGAGCCTTGAATGAGAAATTAAATGGGAGTTCAGAATGAAAGGATCTGTTGTCTTGGTTGGGTGTGTGTTAAGTTTTACCTTGCAATGTCAACTCTTACAAACAGTCCAAAACAATGAATGGTTTAAAGC... |
Task1_train_16719 | A sequence alteration has been identified in PTS (6-pyruvoyltetrahydropterin synthase) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Hyperphenylalaninemia due to tetrahydrobiopterin deficiency | CCTCCCAAAGTGCTGGAATTACAGGCATGAGCTACTGCTCCTGGCCTTCTCCTTGGAGCTTTCTCTTCCCTCTCTGAATATTCCTTGTACCTTTGATCATAGATTTAGACACCACACTGTGTTGTTCATTCTAGCTTTATTATAAACTCACCAGAGCAGTACCTCATAGAGATAACACACAAGGTGTTCAATGAAGAACTTAACTGATTGTGTCATTATAGAATTCTTGCACTGTAAGAGACTTTGGAGATTATTCAGACCAACTTCTTCAACCCATAGATTAAGATTGAGAGATGCTGAACAGTTAACTGACTTGCCCC... | CCTCCCAAAGTGCTGGAATTACAGGCATGAGCTACTGCTCCTGGCCTTCTCCTTGGAGCTTTCTCTTCCCTCTCTGAATATTCCTTGTACCTTTGATCATAGATTTAGACACCACACTGTGTTGTTCATTCTAGCTTTATTATAAACTCACCAGAGCAGTACCTCATAGAGATAACACACAAGGTGTTCAATGAAGAACTTAACTGATTGTGTCATTATAGAATTCTTGCACTGTAAGAGACTTTGGAGATTATTCAGACCAACTTCTTCAACCCATAGATTAAGATTGAGAGATGCTGAACAGTTAACTGACTTGCCCC... |
Task1_train_16720 | Given a variant located on Chromosome 11 and affecting PTS (6-pyruvoyltetrahydropterin synthase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | CCTCCCAAAGTGCTGGAATTACAGGCATGAGCTACTGCTCCTGGCCTTCTCCTTGGAGCTTTCTCTTCCCTCTCTGAATATTCCTTGTACCTTTGATCATAGATTTAGACACCACACTGTGTTGTTCATTCTAGCTTTATTATAAACTCACCAGAGCAGTACCTCATAGAGATAACACACAAGGTGTTCAATGAAGAACTTAACTGATTGTGTCATTATAGAATTCTTGCACTGTAAGAGACTTTGGAGATTATTCAGACCAACTTCTTCAACCCATAGATTAAGATTGAGAGATGCTGAACAGTTAACTGACTTGCCCC... | CCTCCCAAAGTGCTGGAATTACAGGCATGAGCTACTGCTCCTGGCCTTCTCCTTGGAGCTTTCTCTTCCCTCTCTGAATATTCCTTGTACCTTTGATCATAGATTTAGACACCACACTGTGTTGTTCATTCTAGCTTTATTATAAACTCACCAGAGCAGTACCTCATAGAGATAACACACAAGGTGTTCAATGAAGAACTTAACTGATTGTGTCATTATAGAATTCTTGCACTGTAAGAGACTTTGGAGATTATTCAGACCAACTTCTTCAACCCATAGATTAAGATTGAGAGATGCTGAACAGTTAACTGACTTGCCCC... |
Task1_train_16721 | This variant affects gene PTS (6-pyruvoyltetrahydropterin synthase) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | TGGAATTACAGGCATGAGCTACTGCTCCTGGCCTTCTCCTTGGAGCTTTCTCTTCCCTCTCTGAATATTCCTTGTACCTTTGATCATAGATTTAGACACCACACTGTGTTGTTCATTCTAGCTTTATTATAAACTCACCAGAGCAGTACCTCATAGAGATAACACACAAGGTGTTCAATGAAGAACTTAACTGATTGTGTCATTATAGAATTCTTGCACTGTAAGAGACTTTGGAGATTATTCAGACCAACTTCTTCAACCCATAGATTAAGATTGAGAGATGCTGAACAGTTAACTGACTTGCCCCAGGTCATATGGCT... | TGGAATTACAGGCATGAGCTACTGCTCCTGGCCTTCTCCTTGGAGCTTTCTCTTCCCTCTCTGAATATTCCTTGTACCTTTGATCATAGATTTAGACACCACACTGTGTTGTTCATTCTAGCTTTATTATAAACTCACCAGAGCAGTACCTCATAGAGATAACACACAAGGTGTTCAATGAAGAACTTAACTGATTGTGTCATTATAGAATTCTTGCACTGTAAGAGACTTTGGAGATTATTCAGACCAACTTCTTCAACCCATAGATTAAGATTGAGAGATGCTGAACAGTTAACTGACTTGCCCCAGGTCATATGGCT... |
Task1_train_16722 | This mutation is located in gene PTS (6-pyruvoyltetrahydropterin synthase) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | TGAGCTACTGCTCCTGGCCTTCTCCTTGGAGCTTTCTCTTCCCTCTCTGAATATTCCTTGTACCTTTGATCATAGATTTAGACACCACACTGTGTTGTTCATTCTAGCTTTATTATAAACTCACCAGAGCAGTACCTCATAGAGATAACACACAAGGTGTTCAATGAAGAACTTAACTGATTGTGTCATTATAGAATTCTTGCACTGTAAGAGACTTTGGAGATTATTCAGACCAACTTCTTCAACCCATAGATTAAGATTGAGAGATGCTGAACAGTTAACTGACTTGCCCCAGGTCATATGGCTAGTCATTTGCAAAG... | TGAGCTACTGCTCCTGGCCTTCTCCTTGGAGCTTTCTCTTCCCTCTCTGAATATTCCTTGTACCTTTGATCATAGATTTAGACACCACACTGTGTTGTTCATTCTAGCTTTATTATAAACTCACCAGAGCAGTACCTCATAGAGATAACACACAAGGTGTTCAATGAAGAACTTAACTGATTGTGTCATTATAGAATTCTTGCACTGTAAGAGACTTTGGAGATTATTCAGACCAACTTCTTCAACCCATAGATTAAGATTGAGAGATGCTGAACAGTTAACTGACTTGCCCCAGGTCATATGGCTAGTCATTTGCAAAG... |
Task1_train_16723 | Located on Chromosome 11, this mutation impacts PTS (6-pyruvoyltetrahydropterin synthase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | AACCCATAGATTAAGATTGAGAGATGCTGAACAGTTAACTGACTTGCCCCAGGTCATATGGCTAGTCATTTGCAAAGCTGGGAGTAGATTTCTTTCCTTCCAGCTGTTTTATTATGCTGTCATTTCACTTGCAGCTTAGGTTTGTTCTGAGATTTGACATTTGCTTGATTAAAATGATGTTATTAGTAATGATTACTTCTTTCACATTACTTATTCATATATTCAACAAATTTCTCTACTTCGCATCAGTTTTTGAGCTAAGTGTACAAAGATGAATGAGATGTAGCCCACAGAGTGTATACATTACTTTTTCTAGGAGG... | AACCCATAGATTAAGATTGAGAGATGCTGAACAGTTAACTGACTTGCCCCAGGTCATATGGCTAGTCATTTGCAAAGCTGGGAGTAGATTTCTTTCCTTCCAGCTGTTTTATTATGCTGTCATTTCACTTGCAGCTTAGGTTTGTTCTGAGATTTGACATTTGCTTGATTAAAATGATGTTATTAGTAATGATTACTTCTTTCACATTACTTATTCATATATTCAACAAATTTCTCTACTTCGCATCAGTTTTTGAGCTAAGTGTACAAAGATGAATGAGATGTAGCCCACAGAGTGTATACATTACTTTTTCTAGGAGG... |
Task1_train_16724 | Gene PTS (6-pyruvoyltetrahydropterin synthase) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | AACTGACTTGCCCCAGGTCATATGGCTAGTCATTTGCAAAGCTGGGAGTAGATTTCTTTCCTTCCAGCTGTTTTATTATGCTGTCATTTCACTTGCAGCTTAGGTTTGTTCTGAGATTTGACATTTGCTTGATTAAAATGATGTTATTAGTAATGATTACTTCTTTCACATTACTTATTCATATATTCAACAAATTTCTCTACTTCGCATCAGTTTTTGAGCTAAGTGTACAAAGATGAATGAGATGTAGCCCACAGAGTGTATACATTACTTTTTCTAGGAGGTGAAGAATATTATTAAATAACTGTTGATTTAATAAA... | AACTGACTTGCCCCAGGTCATATGGCTAGTCATTTGCAAAGCTGGGAGTAGATTTCTTTCCTTCCAGCTGTTTTATTATGCTGTCATTTCACTTGCAGCTTAGGTTTGTTCTGAGATTTGACATTTGCTTGATTAAAATGATGTTATTAGTAATGATTACTTCTTTCACATTACTTATTCATATATTCAACAAATTTCTCTACTTCGCATCAGTTTTTGAGCTAAGTGTACAAAGATGAATGAGATGTAGCCCACAGAGTGTATACATTACTTTTTCTAGGAGGTGAAGAATATTATTAAATAACTGTTGATTTAATAAA... |
Task1_train_16725 | Here is a genetic alteration in PTS (6-pyruvoyltetrahydropterin synthase) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | CCAGGTCATATGGCTAGTCATTTGCAAAGCTGGGAGTAGATTTCTTTCCTTCCAGCTGTTTTATTATGCTGTCATTTCACTTGCAGCTTAGGTTTGTTCTGAGATTTGACATTTGCTTGATTAAAATGATGTTATTAGTAATGATTACTTCTTTCACATTACTTATTCATATATTCAACAAATTTCTCTACTTCGCATCAGTTTTTGAGCTAAGTGTACAAAGATGAATGAGATGTAGCCCACAGAGTGTATACATTACTTTTTCTAGGAGGTGAAGAATATTATTAAATAACTGTTGATTTAATAAATGAGTAGAAGAA... | CCAGGTCATATGGCTAGTCATTTGCAAAGCTGGGAGTAGATTTCTTTCCTTCCAGCTGTTTTATTATGCTGTCATTTCACTTGCAGCTTAGGTTTGTTCTGAGATTTGACATTTGCTTGATTAAAATGATGTTATTAGTAATGATTACTTCTTTCACATTACTTATTCATATATTCAACAAATTTCTCTACTTCGCATCAGTTTTTGAGCTAAGTGTACAAAGATGAATGAGATGTAGCCCACAGAGTGTATACATTACTTTTTCTAGGAGGTGAAGAATATTATTAAATAACTGTTGATTTAATAAATGAGTAGAAGAA... |
Task1_train_16726 | This gene mutation involves PTS (6-pyruvoyltetrahydropterin synthase) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | CATATGGCTAGTCATTTGCAAAGCTGGGAGTAGATTTCTTTCCTTCCAGCTGTTTTATTATGCTGTCATTTCACTTGCAGCTTAGGTTTGTTCTGAGATTTGACATTTGCTTGATTAAAATGATGTTATTAGTAATGATTACTTCTTTCACATTACTTATTCATATATTCAACAAATTTCTCTACTTCGCATCAGTTTTTGAGCTAAGTGTACAAAGATGAATGAGATGTAGCCCACAGAGTGTATACATTACTTTTTCTAGGAGGTGAAGAATATTATTAAATAACTGTTGATTTAATAAATGAGTAGAAGAATGAGTG... | CATATGGCTAGTCATTTGCAAAGCTGGGAGTAGATTTCTTTCCTTCCAGCTGTTTTATTATGCTGTCATTTCACTTGCAGCTTAGGTTTGTTCTGAGATTTGACATTTGCTTGATTAAAATGATGTTATTAGTAATGATTACTTCTTTCACATTACTTATTCATATATTCAACAAATTTCTCTACTTCGCATCAGTTTTTGAGCTAAGTGTACAAAGATGAATGAGATGTAGCCCACAGAGTGTATACATTACTTTTTCTAGGAGGTGAAGAATATTATTAAATAACTGTTGATTTAATAAATGAGTAGAAGAATGAGTG... |
Task1_train_16727 | Here is a genetic alteration in PTS (6-pyruvoyltetrahydropterin synthase) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | GCTGGGAGTAGATTTCTTTCCTTCCAGCTGTTTTATTATGCTGTCATTTCACTTGCAGCTTAGGTTTGTTCTGAGATTTGACATTTGCTTGATTAAAATGATGTTATTAGTAATGATTACTTCTTTCACATTACTTATTCATATATTCAACAAATTTCTCTACTTCGCATCAGTTTTTGAGCTAAGTGTACAAAGATGAATGAGATGTAGCCCACAGAGTGTATACATTACTTTTTCTAGGAGGTGAAGAATATTATTAAATAACTGTTGATTTAATAAATGAGTAGAAGAATGAGTGAATGAAGAAACAGCACTATGCT... | GCTGGGAGTAGATTTCTTTCCTTCCAGCTGTTTTATTATGCTGTCATTTCACTTGCAGCTTAGGTTTGTTCTGAGATTTGACATTTGCTTGATTAAAATGATGTTATTAGTAATGATTACTTCTTTCACATTACTTATTCATATATTCAACAAATTTCTCTACTTCGCATCAGTTTTTGAGCTAAGTGTACAAAGATGAATGAGATGTAGCCCACAGAGTGTATACATTACTTTTTCTAGGAGGTGAAGAATATTATTAAATAACTGTTGATTTAATAAATGAGTAGAAGAATGAGTGAATGAAGAAACAGCACTATGCT... |
Task1_train_16728 | The gene TTC12 (tetratricopeptide repeat domain 12) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Ciliary dyskinesia, primary, 45 | AGCCAGTGATCCTAGAGGTTGTTTGTGCATAATAGTTTTACCCTCTTTTTAAAATATATGCTGAAATGGCTTTCTCAATTCTGTGTCTGACATTTGAATAAGAAAACTGAGAAAGGCCTATATGTTAGCACAGTGCATCAGGAGAAGAATATTAGTATGATTCAAGAGGCTATTTGCCATCACCCTAGAACGTATTCTTCACTCACATTAAGTGATCACCCGTTTTTCTCCCTGTCAGGGCAGGACCCTAATGGCTAGGGAAGCAATTAGGGCCACATCTAGGGTGGGTCTGGGAAACCAGCCTTTCAAGGGTTGCAGAC... | AGCCAGTGATCCTAGAGGTTGTTTGTGCATAATAGTTTTACCCTCTTTTTAAAATATATGCTGAAATGGCTTTCTCAATTCTGTGTCTGACATTTGAATAAGAAAACTGAGAAAGGCCTATATGTTAGCACAGTGCATCAGGAGAAGAATATTAGTATGATTCAAGAGGCTATTTGCCATCACCCTAGAACGTATTCTTCACTCACATTAAGTGATCACCCGTTTTTCTCCCTGTCAGGGCAGGACCCTAATGGCTAGGGAAGCAATTAGGGCCACATCTAGGGTGGGTCTGGGAAACCAGCCTTTCAAGGGTTGCAGAC... |
Task1_train_16729 | This genomic variant is located on Chromosome 11, within the ZPR1 (ZPR1 zinc finger) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies | GGTGCCCAAGGGTTCTACTGCTCCTCCAGATTTCACCTGCATCGATAACAGTCAGGAGCAACAGAGAGAAGACCTGAGCCTCACTTGGTACCCAGGAGACCTGGAGTGTAGGCTTGGACATCCAATCAGTTAGGGCCATTAATAGCTACCAAAGAAAGAGCCTTCTAAACAGCAGTCGCCCAAACCAAAAACACCAAGAGCTGGCCAGGAACAGTGCCCAACCCTGGTAACGTGCCAAAACTTATCCCAAATTGCCAATAAACTCTGAATTTACCTTAAAAAAAAAAAAAAAAAAAAGACTTTTGGGGTTGAAAGAGACT... | GGTGCCCAAGGGTTCTACTGCTCCTCCAGATTTCACCTGCATCGATAACAGTCAGGAGCAACAGAGAGAAGACCTGAGCCTCACTTGGTACCCAGGAGACCTGGAGTGTAGGCTTGGACATCCAATCAGTTAGGGCCATTAATAGCTACCAAAGAAAGAGCCTTCTAAACAGCAGTCGCCCAAACCAAAAACACCAAGAGCTGGCCAGGAACAGTGCCCAACCCTGGTAACGTGCCAAAACTTATCCCAAATTGCCAATAAACTCTGAATTTACCTTAAAAAAAAAAAAAAAAAAAAGACTTTTGGGGTTGAAAGAGACT... |
Task1_train_16730 | The following genetic variant occurs in APOC3 (apolipoprotein C3) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Apolipoprotein c-III deficiency | CTCAGGAGCTTCAGAGGCCGAGGATGCCTCCCTTCTCAGCTTCATGCAGGGTTACATGAAGCACGCCACCAAGACCGCCAAGGATGCACTGAGCAGCGTGCAGGAGTCCCAGGTGGCCCAGCAGGCCAGGTACACCCGCTGGCCTCCCTCCCCATCCCCCCTGCCAGCTGCCTCCATTCCCACCCGCCCCTGCCCTGGTGAGATCCCAACAATGGAATGGAGGTGCTCCAGCCTCCCCTGGGCCTGTGCCTCTTCAGCCTCCTCTTTCCTCACAGGGCCTTTGTCAGGCTGCTGCGGGAGAGATGACAGAGTTGAGACTG... | CTCAGGAGCTTCAGAGGCCGAGGATGCCTCCCTTCTCAGCTTCATGCAGGGTTACATGAAGCACGCCACCAAGACCGCCAAGGATGCACTGAGCAGCGTGCAGGAGTCCCAGGTGGCCCAGCAGGCCAGGTACACCCGCTGGCCTCCCTCCCCATCCCCCCTGCCAGCTGCCTCCATTCCCACCCGCCCCTGCCCTGGTGAGATCCCAACAATGGAATGGAGGTGCTCCAGCCTCCCCTGGGCCTGTGCCTCTTCAGCCTCCTCTTTCCTCACAGGGCCTTTGTCAGGCTGCTGCGGGAGAGATGACAGAGTTGAGACTG... |
Task1_train_16731 | Assess the clinical impact of this variant on gene APOC3 (apolipoprotein C3), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Apolipoprotein C-III, nonglycosylated | GGGTTACATGAAGCACGCCACCAAGACCGCCAAGGATGCACTGAGCAGCGTGCAGGAGTCCCAGGTGGCCCAGCAGGCCAGGTACACCCGCTGGCCTCCCTCCCCATCCCCCCTGCCAGCTGCCTCCATTCCCACCCGCCCCTGCCCTGGTGAGATCCCAACAATGGAATGGAGGTGCTCCAGCCTCCCCTGGGCCTGTGCCTCTTCAGCCTCCTCTTTCCTCACAGGGCCTTTGTCAGGCTGCTGCGGGAGAGATGACAGAGTTGAGACTGCATTCCTCCCAGGTCCCTCCTTTCTCCCCGGAGCAGTCCTAGGGCGTG... | GGGTTACATGAAGCACGCCACCAAGACCGCCAAGGATGCACTGAGCAGCGTGCAGGAGTCCCAGGTGGCCCAGCAGGCCAGGTACACCCGCTGGCCTCCCTCCCCATCCCCCCTGCCAGCTGCCTCCATTCCCACCCGCCCCTGCCCTGGTGAGATCCCAACAATGGAATGGAGGTGCTCCAGCCTCCCCTGGGCCTGTGCCTCTTCAGCCTCCTCTTTCCTCACAGGGCCTTTGTCAGGCTGCTGCGGGAGAGATGACAGAGTTGAGACTGCATTCCTCCCAGGTCCCTCCTTTCTCCCCGGAGCAGTCCTAGGGCGTG... |
Task1_train_16732 | This mutation is located in gene APOA1 (apolipoprotein A1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | ACCTTGAGCCCAGGTCAGCTGCGTGTATTCTGCTCAGTTGGTGCAGAAAACAGTTTTGTCACTCCTATGTCAGGTGTTAGGGACTCCTTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGA... | ACCTTGAGCCCAGGTCAGCTGCGTGTATTCTGCTCAGTTGGTGCAGAAAACAGTTTTGTCACTCCTATGTCAGGTGTTAGGGACTCCTTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGA... |
Task1_train_16733 | Gene APOA1 (apolipoprotein A1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Familial amyloid polyneuropathy, Iowa type | CAGGTCAGCTGCGTGTATTCTGCTCAGTTGGTGCAGAAAACAGTTTTGTCACTCCTATGTCAGGTGTTAGGGACTCCTTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGAT... | CAGGTCAGCTGCGTGTATTCTGCTCAGTTGGTGCAGAAAACAGTTTTGTCACTCCTATGTCAGGTGTTAGGGACTCCTTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGAT... |
Task1_train_16734 | Chromosome 11 houses a mutation in gene APOA1 (apolipoprotein A1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Familial amyloid polyneuropathy, Iowa type | GGTCAGCTGCGTGTATTCTGCTCAGTTGGTGCAGAAAACAGTTTTGTCACTCCTATGTCAGGTGTTAGGGACTCCTTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTA... | GGTCAGCTGCGTGTATTCTGCTCAGTTGGTGCAGAAAACAGTTTTGTCACTCCTATGTCAGGTGTTAGGGACTCCTTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTA... |
Task1_train_16735 | A sequence alteration has been identified in APOA1 (apolipoprotein A1) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; not provided | CAGCTGCGTGTATTCTGCTCAGTTGGTGCAGAAAACAGTTTTGTCACTCCTATGTCAGGTGTTAGGGACTCCTTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTATCC... | CAGCTGCGTGTATTCTGCTCAGTTGGTGCAGAAAACAGTTTTGTCACTCCTATGTCAGGTGTTAGGGACTCCTTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTATCC... |
Task1_train_16736 | The variant affects gene APOA1 (apolipoprotein A1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; APOLIPOPROTEIN A-I (MILANO) | AGCTGCGTGTATTCTGCTCAGTTGGTGCAGAAAACAGTTTTGTCACTCCTATGTCAGGTGTTAGGGACTCCTTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTATCCA... | AGCTGCGTGTATTCTGCTCAGTTGGTGCAGAAAACAGTTTTGTCACTCCTATGTCAGGTGTTAGGGACTCCTTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTATCCA... |
Task1_train_16737 | This mutation is located in gene APOA1 (apolipoprotein A1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | GGTGCAGAAAACAGTTTTGTCACTCCTATGTCAGGTGTTAGGGACTCCTTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTATCCAGGGGCCTGCATGAGGGGGCAAAA... | GGTGCAGAAAACAGTTTTGTCACTCCTATGTCAGGTGTTAGGGACTCCTTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTATCCAGGGGCCTGCATGAGGGGGCAAAA... |
Task1_train_16738 | This variant lies on Chromosome 11 and affects the gene APOA1 (apolipoprotein A1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypoalphalipoproteinemia, primary, 2 | ATGTCAGGTGTTAGGGACTCCTTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTATCCAGGGGCCTGCATGAGGGGGCAAAAGGCCCTGCAGAGAGAGGGTAGGGAAGG... | ATGTCAGGTGTTAGGGACTCCTTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTATCCAGGGGCCTGCATGAGGGGGCAAAAGGCCCTGCAGAGAGAGGGTAGGGAAGG... |
Task1_train_16739 | The gene APOA1 (apolipoprotein A1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Familial amyloid polyneuropathy, Iowa type | TTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTATCCAGGGGCCTGCATGAGGGGGCAAAAGGCCCTGCAGAGAGAGGGTAGGGAAGGCACTGCCCAGATCTGTGAAGC... | TTTACAGATCTCAGTGGCATCAGTACATCCAGCCCCACCTGGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTATCCAGGGGCCTGCATGAGGGGGCAAAAGGCCCTGCAGAGAGAGGGTAGGGAAGGCACTGCCCAGATCTGTGAAGC... |
Task1_train_16740 | Given a variant located on Chromosome 11 and affecting APOA1, APOA1-AS (apolipoprotein A1| APOA1 antisense RNA), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; APOLIPOPROTEIN A-I (NORWAY) | GGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTATCCAGGGGCCTGCATGAGGGGGCAAAAGGCCCTGCAGAGAGAGGGTAGGGAAGGCACTGCCCAGATCTGTGAAGCCATGTGCGTGCACGCGGGGACATTCAGACATGAGTGCAAG... | GGAGACTGCTTTCTCTCTGAAAATTCCCCAGGGCTTCTCTCTGGGCTGAGAGATCTCAGCACCCGTATCTAGAAAATGTTCCCACCCAGACCTGGCTGGATGACTGCTGTTGTAGCTCTGGAAGGTTAGGAACTAAAAAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTATCCAGGGGCCTGCATGAGGGGGCAAAAGGCCCTGCAGAGAGAGGGTAGGGAAGGCACTGCCCAGATCTGTGAAGCCATGTGCGTGCACGCGGGGACATTCAGACATGAGTGCAAG... |
Task1_train_16741 | This sequence variant lies in APOA1, APOA1-AS (apolipoprotein A1| APOA1 antisense RNA) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Familial amyloid polyneuropathy, Iowa type | AAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTATCCAGGGGCCTGCATGAGGGGGCAAAAGGCCCTGCAGAGAGAGGGTAGGGAAGGCACTGCCCAGATCTGTGAAGCCATGTGCGTGCACGCGGGGACATTCAGACATGAGTGCAAGGAGGGACCGTGAGCAGGGAGGTCATGTGAGAATACACAGGCATGCCTGCACACCCATGTGAACTTGAGTGCCAGGCCACACACTCTTTTTTTTTTTTTTTTTTTTTTAGCTGGAGTCTTGCTCCGTCGCCCAGGCTG... | AAGCCCACTCCTTTACCTAGGGTAGCTAAGATACACTGGAGATGGGGACATGGGGATGGGGCCGATTATCCAGGGGCCTGCATGAGGGGGCAAAAGGCCCTGCAGAGAGAGGGTAGGGAAGGCACTGCCCAGATCTGTGAAGCCATGTGCGTGCACGCGGGGACATTCAGACATGAGTGCAAGGAGGGACCGTGAGCAGGGAGGTCATGTGAGAATACACAGGCATGCCTGCACACCCATGTGAACTTGAGTGCCAGGCCACACACTCTTTTTTTTTTTTTTTTTTTTTTAGCTGGAGTCTTGCTCCGTCGCCCAGGCTG... |
Task1_train_16742 | The gene APOA1-AS, APOA1 (APOA1 antisense RNA| apolipoprotein A1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial amyloid polyneuropathy, Iowa type | CAAAAGGCCCTGCAGAGAGAGGGTAGGGAAGGCACTGCCCAGATCTGTGAAGCCATGTGCGTGCACGCGGGGACATTCAGACATGAGTGCAAGGAGGGACCGTGAGCAGGGAGGTCATGTGAGAATACACAGGCATGCCTGCACACCCATGTGAACTTGAGTGCCAGGCCACACACTCTTTTTTTTTTTTTTTTTTTTTTAGCTGGAGTCTTGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCATGATTTCGGCTCACTGTGACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGGGATT... | CAAAAGGCCCTGCAGAGAGAGGGTAGGGAAGGCACTGCCCAGATCTGTGAAGCCATGTGCGTGCACGCGGGGACATTCAGACATGAGTGCAAGGAGGGACCGTGAGCAGGGAGGTCATGTGAGAATACACAGGCATGCCTGCACACCCATGTGAACTTGAGTGCCAGGCCACACACTCTTTTTTTTTTTTTTTTTTTTTTAGCTGGAGTCTTGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCATGATTTCGGCTCACTGTGACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGGGATT... |
Task1_train_16743 | Given this variant in gene APOA1-AS, APOA1 (APOA1 antisense RNA| apolipoprotein A1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | GCACTGCCCAGATCTGTGAAGCCATGTGCGTGCACGCGGGGACATTCAGACATGAGTGCAAGGAGGGACCGTGAGCAGGGAGGTCATGTGAGAATACACAGGCATGCCTGCACACCCATGTGAACTTGAGTGCCAGGCCACACACTCTTTTTTTTTTTTTTTTTTTTTTAGCTGGAGTCTTGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCATGATTTCGGCTCACTGTGACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGGGATTACGGGTGCAAGCCACCATGCCCAGCTGATTT... | GCACTGCCCAGATCTGTGAAGCCATGTGCGTGCACGCGGGGACATTCAGACATGAGTGCAAGGAGGGACCGTGAGCAGGGAGGTCATGTGAGAATACACAGGCATGCCTGCACACCCATGTGAACTTGAGTGCCAGGCCACACACTCTTTTTTTTTTTTTTTTTTTTTTAGCTGGAGTCTTGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCATGATTTCGGCTCACTGTGACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGGGATTACGGGTGCAAGCCACCATGCCCAGCTGATTT... |
Task1_train_16744 | Given a variant located on Chromosome 11 and affecting APOA1, APOA1-AS (apolipoprotein A1| APOA1 antisense RNA), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hypoalphalipoproteinemia, primary, 2 | AAAATGTACCTGCAAGAGGTGGTGGTGAATTTTCTTACTCAGGCCAGCTTCTGCCAGGGCTGGCAGAAAGAGGGGGTGGCATGGCATGGAGCCGCAGGGGGTGGAGGACTGGCTTCCACTGCTGTGCCTGAGGAAGCCGCGGCTGTTTCTGGGCGGGATGGGAGTAGTGGGAGGGGGATACTGGCCTTGTGAGAAGAAAAGGGAAGTGTCTGTTTGAGAGGTTTTTGAATTAGTAAAGGAGGACAGGCGCAAACTCCAAGCGCTTCACTTGCACCCGGGACCAAACCCCAATCCCAGTGGCTGGCTCCCTGAGGCCGCCC... | AAAATGTACCTGCAAGAGGTGGTGGTGAATTTTCTTACTCAGGCCAGCTTCTGCCAGGGCTGGCAGAAAGAGGGGGTGGCATGGCATGGAGCCGCAGGGGGTGGAGGACTGGCTTCCACTGCTGTGCCTGAGGAAGCCGCGGCTGTTTCTGGGCGGGATGGGAGTAGTGGGAGGGGGATACTGGCCTTGTGAGAAGAAAAGGGAAGTGTCTGTTTGAGAGGTTTTTGAATTAGTAAAGGAGGACAGGCGCAAACTCCAAGCGCTTCACTTGCACCCGGGACCAAACCCCAATCCCAGTGGCTGGCTCCCTGAGGCCGCCC... |
Task1_train_16745 | Here is a genetic alteration in APOA1, APOA1-AS (apolipoprotein A1| APOA1 antisense RNA) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Familial amyloid polyneuropathy, Iowa type | AAAATGTACCTGCAAGAGGTGGTGGTGAATTTTCTTACTCAGGCCAGCTTCTGCCAGGGCTGGCAGAAAGAGGGGGTGGCATGGCATGGAGCCGCAGGGGGTGGAGGACTGGCTTCCACTGCTGTGCCTGAGGAAGCCGCGGCTGTTTCTGGGCGGGATGGGAGTAGTGGGAGGGGGATACTGGCCTTGTGAGAAGAAAAGGGAAGTGTCTGTTTGAGAGGTTTTTGAATTAGTAAAGGAGGACAGGCGCAAACTCCAAGCGCTTCACTTGCACCCGGGACCAAACCCCAATCCCAGTGGCTGGCTCCCTGAGGCCGCCC... | AAAATGTACCTGCAAGAGGTGGTGGTGAATTTTCTTACTCAGGCCAGCTTCTGCCAGGGCTGGCAGAAAGAGGGGGTGGCATGGCATGGAGCCGCAGGGGGTGGAGGACTGGCTTCCACTGCTGTGCCTGAGGAAGCCGCGGCTGTTTCTGGGCGGGATGGGAGTAGTGGGAGGGGGATACTGGCCTTGTGAGAAGAAAAGGGAAGTGTCTGTTTGAGAGGTTTTTGAATTAGTAAAGGAGGACAGGCGCAAACTCCAAGCGCTTCACTTGCACCCGGGACCAAACCCCAATCCCAGTGGCTGGCTCCCTGAGGCCGCCC... |
Task1_train_16746 | A sequence alteration has been identified in APOA1, APOA1-AS (apolipoprotein A1| APOA1 antisense RNA) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Hypoalphalipoproteinemia, primary, 2, intermediate | AAAATGTACCTGCAAGAGGTGGTGGTGAATTTTCTTACTCAGGCCAGCTTCTGCCAGGGCTGGCAGAAAGAGGGGGTGGCATGGCATGGAGCCGCAGGGGGTGGAGGACTGGCTTCCACTGCTGTGCCTGAGGAAGCCGCGGCTGTTTCTGGGCGGGATGGGAGTAGTGGGAGGGGGATACTGGCCTTGTGAGAAGAAAAGGGAAGTGTCTGTTTGAGAGGTTTTTGAATTAGTAAAGGAGGACAGGCGCAAACTCCAAGCGCTTCACTTGCACCCGGGACCAAACCCCAATCCCAGTGGCTGGCTCCCTGAGGCCGCCC... | AAAATGTACCTGCAAGAGGTGGTGGTGAATTTTCTTACTCAGGCCAGCTTCTGCCAGGGCTGGCAGAAAGAGGGGGTGGCATGGCATGGAGCCGCAGGGGGTGGAGGACTGGCTTCCACTGCTGTGCCTGAGGAAGCCGCGGCTGTTTCTGGGCGGGATGGGAGTAGTGGGAGGGGGATACTGGCCTTGTGAGAAGAAAAGGGAAGTGTCTGTTTGAGAGGTTTTTGAATTAGTAAAGGAGGACAGGCGCAAACTCCAAGCGCTTCACTTGCACCCGGGACCAAACCCCAATCCCAGTGGCTGGCTCCCTGAGGCCGCCC... |
Task1_train_16747 | This variant affects the gene APOA1, APOA1-AS (apolipoprotein A1| APOA1 antisense RNA) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Familial visceral amyloidosis, Ostertag type | AAAATGTACCTGCAAGAGGTGGTGGTGAATTTTCTTACTCAGGCCAGCTTCTGCCAGGGCTGGCAGAAAGAGGGGGTGGCATGGCATGGAGCCGCAGGGGGTGGAGGACTGGCTTCCACTGCTGTGCCTGAGGAAGCCGCGGCTGTTTCTGGGCGGGATGGGAGTAGTGGGAGGGGGATACTGGCCTTGTGAGAAGAAAAGGGAAGTGTCTGTTTGAGAGGTTTTTGAATTAGTAAAGGAGGACAGGCGCAAACTCCAAGCGCTTCACTTGCACCCGGGACCAAACCCCAATCCCAGTGGCTGGCTCCCTGAGGCCGCCC... | AAAATGTACCTGCAAGAGGTGGTGGTGAATTTTCTTACTCAGGCCAGCTTCTGCCAGGGCTGGCAGAAAGAGGGGGTGGCATGGCATGGAGCCGCAGGGGGTGGAGGACTGGCTTCCACTGCTGTGCCTGAGGAAGCCGCGGCTGTTTCTGGGCGGGATGGGAGTAGTGGGAGGGGGATACTGGCCTTGTGAGAAGAAAAGGGAAGTGTCTGTTTGAGAGGTTTTTGAATTAGTAAAGGAGGACAGGCGCAAACTCCAAGCGCTTCACTTGCACCCGGGACCAAACCCCAATCCCAGTGGCTGGCTCCCTGAGGCCGCCC... |
Task1_train_16748 | Here is a genetic alteration in APOA1-AS, APOA1 (APOA1 antisense RNA| apolipoprotein A1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; APOLIPOPROTEIN A-I (MUNSTER3C) | AGAGGGGGTGGCATGGCATGGAGCCGCAGGGGGTGGAGGACTGGCTTCCACTGCTGTGCCTGAGGAAGCCGCGGCTGTTTCTGGGCGGGATGGGAGTAGTGGGAGGGGGATACTGGCCTTGTGAGAAGAAAAGGGAAGTGTCTGTTTGAGAGGTTTTTGAATTAGTAAAGGAGGACAGGCGCAAACTCCAAGCGCTTCACTTGCACCCGGGACCAAACCCCAATCCCAGTGGCTGGCTCCCTGAGGCCGCCCCGCTCCGTCCCGCCCCGCTGACAGCGGCTGGGCTGGAGAAGGCTCTATACGGACACACCTCTGGGGAC... | AGAGGGGGTGGCATGGCATGGAGCCGCAGGGGGTGGAGGACTGGCTTCCACTGCTGTGCCTGAGGAAGCCGCGGCTGTTTCTGGGCGGGATGGGAGTAGTGGGAGGGGGATACTGGCCTTGTGAGAAGAAAAGGGAAGTGTCTGTTTGAGAGGTTTTTGAATTAGTAAAGGAGGACAGGCGCAAACTCCAAGCGCTTCACTTGCACCCGGGACCAAACCCCAATCCCAGTGGCTGGCTCCCTGAGGCCGCCCCGCTCCGTCCCGCCCCGCTGACAGCGGCTGGGCTGGAGAAGGCTCTATACGGACACACCTCTGGGGAC... |
Task1_train_16749 | A change on Chromosome 11 affects gene SIK3 (SIK family kinase 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Spondyloepimetaphyseal dysplasia, Krakow type | AACAGAATGAGGCCCTGTCTCGAAAACAAAAACAAAAAAAGGTGGGGGTGGGAGAGAGATGATCCTGGATTATCTGAGACAGCCCAATGTAATGACAAAGGTCCTTGCAAGAGGGAAGCAGGAGGGTCGGAATTAGGAGTAGGAGATGTGACAATGGAAGCCACAGGTTGGAGTGAAGGAAGGAAGGGGCTGAGCTAAAGAATGCAGGTGACCTTTAGAAGCTAAAAAAGGCAAGGACACATTTTTCCTTCAGAGCCTCCAGGAGGAACAGCCCTTGCTGCTGTTTTAACTTTCACCCTGTGAGACCCAGCTTGGACTTC... | AACAGAATGAGGCCCTGTCTCGAAAACAAAAACAAAAAAAGGTGGGGGTGGGAGAGAGATGATCCTGGATTATCTGAGACAGCCCAATGTAATGACAAAGGTCCTTGCAAGAGGGAAGCAGGAGGGTCGGAATTAGGAGTAGGAGATGTGACAATGGAAGCCACAGGTTGGAGTGAAGGAAGGAAGGGGCTGAGCTAAAGAATGCAGGTGACCTTTAGAAGCTAAAAAAGGCAAGGACACATTTTTCCTTCAGAGCCTCCAGGAGGAACAGCCCTTGCTGCTGTTTTAACTTTCACCCTGTGAGACCCAGCTTGGACTTC... |
Task1_train_16750 | Chromosome 11 houses a mutation in gene CEP164 (centrosomal protein 164). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Nephronophthisis 15 | AGGGCACCCAGTGTTGGGGGATATGGATTTGGCCCTGGCTGTCTGGCATTGGGATTCCACATGTTTAGGTGTGTCCTCCAGCCTTTCCACGGCTGCCTGGGCTTGATGCGTTCTACCAGATCCTGATGTTTTTAATGGCTGGGCCTTTCTGCTTGAAGAGGGCCGTTTCATCCTTGCTGCTCCAGGAGGAACAGTGGCAGCTTCTGAGGAAGTGGGGACTGGAGAGGTCAGGACTTGTGGCTCCAGACTCCTGTTGGTCACATTTGGTGTGGCCAACTGCTCTGCAGGTTGGGGAGGTGCTCTGAGCAGGTCTGTGTGTG... | AGGGCACCCAGTGTTGGGGGATATGGATTTGGCCCTGGCTGTCTGGCATTGGGATTCCACATGTTTAGGTGTGTCCTCCAGCCTTTCCACGGCTGCCTGGGCTTGATGCGTTCTACCAGATCCTGATGTTTTTAATGGCTGGGCCTTTCTGCTTGAAGAGGGCCGTTTCATCCTTGCTGCTCCAGGAGGAACAGTGGCAGCTTCTGAGGAAGTGGGGACTGGAGAGGTCAGGACTTGTGGCTCCAGACTCCTGTTGGTCACATTTGGTGTGGCCAACTGCTCTGCAGGTTGGGGAGGTGCTCTGAGCAGGTCTGTGTGTG... |
Task1_train_16751 | Here is a mutation in FXYD2, FXYD6-FXYD2 (FXYD domain containing ion transport regulator 2| FXYD6-FXYD2 readthrough) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | AGAAGACAAAGGCAGGATGGGGTTGGGTGGGAGGCAGCAGAGGTTGGGGTTTTACTTCCCCCTTGTCCATCTCACTTTTCTCCAGGGCTCCTCTGTGATCTCCTGCGGCACACACTCCACGCCAGGCCCTTGGCCATCATTTTAAACACACGATGGGTGACAGACCACCTGGCTGATGTGTGGACGACCCTAAAATTCTTATTTACCGAGTCCAGGAGCCAGAATTCTTCCCTGTTGCTCCCAAGCCTGCCCTGCCCTCCCCGCACCTTCCCCAGGCCCTCCTAGCATACCTGCTGTTACGGCTCATCTTCATTGATTTG... | AGAAGACAAAGGCAGGATGGGGTTGGGTGGGAGGCAGCAGAGGTTGGGGTTTTACTTCCCCCTTGTCCATCTCACTTTTCTCCAGGGCTCCTCTGTGATCTCCTGCGGCACACACTCCACGCCAGGCCCTTGGCCATCATTTTAAACACACGATGGGTGACAGACCACCTGGCTGATGTGTGGACGACCCTAAAATTCTTATTTACCGAGTCCAGGAGCCAGAATTCTTCCCTGTTGCTCCCAAGCCTGCCCTGCCCTCCCCGCACCTTCCCCAGGCCCTCCTAGCATACCTGCTGTTACGGCTCATCTTCATTGATTTG... |
Task1_train_16752 | Located on Chromosome 11, this mutation impacts IL10RA (interleukin 10 receptor subunit alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Inflammatory bowel disease 28 | TAGAGAAGTTAGAACACTAGGGAGCGGGAGCAGAGTCGCTGTCAAATGGAGAGAACTTAGAGGATCAAGGAGGAGAGAAAGGGAACCAACCAGCCGTTGGCCTTGCACATACTTCAGTCTGCTTGATCAACAAGACTCTTAAAGTAGAAATGTTTGTTGCATTCTTACAAAGAAGACAATGCCTTCAGCAGTGTTTCCCATGGTGAATGGTGTGTACTGGGGGTAAAGGGAGAGTAGAGCTAGGAATTGGTATTGAGTATCTCTCCTCGGAGCTACAGGTGCCAGCTCTTGTGGGGATGTCCTCAGCCATGTGTAGAGCC... | TAGAGAAGTTAGAACACTAGGGAGCGGGAGCAGAGTCGCTGTCAAATGGAGAGAACTTAGAGGATCAAGGAGGAGAGAAAGGGAACCAACCAGCCGTTGGCCTTGCACATACTTCAGTCTGCTTGATCAACAAGACTCTTAAAGTAGAAATGTTTGTTGCATTCTTACAAAGAAGACAATGCCTTCAGCAGTGTTTCCCATGGTGAATGGTGTGTACTGGGGGTAAAGGGAGAGTAGAGCTAGGAATTGGTATTGAGTATCTCTCCTCGGAGCTACAGGTGCCAGCTCTTGTGGGGATGTCCTCAGCCATGTGTAGAGCC... |
Task1_train_16753 | A variant found in Chromosome 11 affects IL10RA (interleukin 10 receptor subunit alpha). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; IL10RA-related disorder | GAGAACTTAGAGGATCAAGGAGGAGAGAAAGGGAACCAACCAGCCGTTGGCCTTGCACATACTTCAGTCTGCTTGATCAACAAGACTCTTAAAGTAGAAATGTTTGTTGCATTCTTACAAAGAAGACAATGCCTTCAGCAGTGTTTCCCATGGTGAATGGTGTGTACTGGGGGTAAAGGGAGAGTAGAGCTAGGAATTGGTATTGAGTATCTCTCCTCGGAGCTACAGGTGCCAGCTCTTGTGGGGATGTCCTCAGCCATGTGTAGAGCCAGAGCTGATTTATTCCATCTGTCCTTGCCCAGCCAGAGGTTGGACATCTG... | GAGAACTTAGAGGATCAAGGAGGAGAGAAAGGGAACCAACCAGCCGTTGGCCTTGCACATACTTCAGTCTGCTTGATCAACAAGACTCTTAAAGTAGAAATGTTTGTTGCATTCTTACAAAGAAGACAATGCCTTCAGCAGTGTTTCCCATGGTGAATGGTGTGTACTGGGGGTAAAGGGAGAGTAGAGCTAGGAATTGGTATTGAGTATCTCTCCTCGGAGCTACAGGTGCCAGCTCTTGTGGGGATGTCCTCAGCCATGTGTAGAGCCAGAGCTGATTTATTCCATCTGTCCTTGCCCAGCCAGAGGTTGGACATCTG... |
Task1_train_16754 | A variant was discovered on Chromosome 11, affecting IL10RA (interleukin 10 receptor subunit alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Inflammatory bowel disease 28 | GAGAACTTAGAGGATCAAGGAGGAGAGAAAGGGAACCAACCAGCCGTTGGCCTTGCACATACTTCAGTCTGCTTGATCAACAAGACTCTTAAAGTAGAAATGTTTGTTGCATTCTTACAAAGAAGACAATGCCTTCAGCAGTGTTTCCCATGGTGAATGGTGTGTACTGGGGGTAAAGGGAGAGTAGAGCTAGGAATTGGTATTGAGTATCTCTCCTCGGAGCTACAGGTGCCAGCTCTTGTGGGGATGTCCTCAGCCATGTGTAGAGCCAGAGCTGATTTATTCCATCTGTCCTTGCCCAGCCAGAGGTTGGACATCTG... | GAGAACTTAGAGGATCAAGGAGGAGAGAAAGGGAACCAACCAGCCGTTGGCCTTGCACATACTTCAGTCTGCTTGATCAACAAGACTCTTAAAGTAGAAATGTTTGTTGCATTCTTACAAAGAAGACAATGCCTTCAGCAGTGTTTCCCATGGTGAATGGTGTGTACTGGGGGTAAAGGGAGAGTAGAGCTAGGAATTGGTATTGAGTATCTCTCCTCGGAGCTACAGGTGCCAGCTCTTGTGGGGATGTCCTCAGCCATGTGTAGAGCCAGAGCTGATTTATTCCATCTGTCCTTGCCCAGCCAGAGGTTGGACATCTG... |
Task1_train_16755 | This genomic variant is located on Chromosome 11, within the IL10RA (interleukin 10 receptor subunit alpha) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Inflammatory bowel disease 28 | TATAAAAAAGTTTTTCTTTTAATTGACAAGTAATAATTCTACATGTTTATGAGGTACAGTGTTATGTATACATAATACATGTATACCTTGTGGAATGATCAAATCAAGGTAATTAGAATATCTATCACCTCAAATATTTAGCATTTCTTTGTGCCAAAAACATTTAAAATATTATCTTTCAGCTATTTTGAAATATACAGTCCATTATTATTACTACAGTCACCTTGCCGTGCAATAGGCACCAGAACTTATTCCTCCTGTCTCACTGTAACTTGGTACCCCTCTCCTTGTTCCCTATCCACTTCTCCCACCTGCCTCCT... | TATAAAAAAGTTTTTCTTTTAATTGACAAGTAATAATTCTACATGTTTATGAGGTACAGTGTTATGTATACATAATACATGTATACCTTGTGGAATGATCAAATCAAGGTAATTAGAATATCTATCACCTCAAATATTTAGCATTTCTTTGTGCCAAAAACATTTAAAATATTATCTTTCAGCTATTTTGAAATATACAGTCCATTATTATTACTACAGTCACCTTGCCGTGCAATAGGCACCAGAACTTATTCCTCCTGTCTCACTGTAACTTGGTACCCCTCTCCTTGTTCCCTATCCACTTCTCCCACCTGCCTCCT... |
Task1_train_16756 | Mutation context: Chromosome 11, Gene IL10RA (interleukin 10 receptor subunit alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Inflammatory bowel disease 28 | TGAGGTACAGTGTTATGTATACATAATACATGTATACCTTGTGGAATGATCAAATCAAGGTAATTAGAATATCTATCACCTCAAATATTTAGCATTTCTTTGTGCCAAAAACATTTAAAATATTATCTTTCAGCTATTTTGAAATATACAGTCCATTATTATTACTACAGTCACCTTGCCGTGCAATAGGCACCAGAACTTATTCCTCCTGTCTCACTGTAACTTGGTACCCCTCTCCTTGTTCCCTATCCACTTCTCCCACCTGCCTCCTTCCAGCTTCTGGTAACCACTTCTACTCTCTACTTCTATGAATTGAATTC... | TGAGGTACAGTGTTATGTATACATAATACATGTATACCTTGTGGAATGATCAAATCAAGGTAATTAGAATATCTATCACCTCAAATATTTAGCATTTCTTTGTGCCAAAAACATTTAAAATATTATCTTTCAGCTATTTTGAAATATACAGTCCATTATTATTACTACAGTCACCTTGCCGTGCAATAGGCACCAGAACTTATTCCTCCTGTCTCACTGTAACTTGGTACCCCTCTCCTTGTTCCCTATCCACTTCTCCCACCTGCCTCCTTCCAGCTTCTGGTAACCACTTCTACTCTCTACTTCTATGAATTGAATTC... |
Task1_train_16757 | This variant impacts the gene IL10RA (interleukin 10 receptor subunit alpha) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Inflammatory bowel disease 28 | GAGCCCTTGTAGATGAAGCAATAAGGCTCTGAGAGGCTGTGTAACCTACCAGAGGGCGCCCCTGTTATGGGAGAGCTGGCATCTGCAAAATCCACCCTCTCTCCTCTCCACCACTGTTGATTCCAGCCCCTTCTGGGAAGATCTTCAGCATCTATAAAACACCGCTTTTTCTTTTAAAATACAAAATAAAATTGTGGTCATTACAGAGATCATGTGCTGCATTGGTAATTGTGGGGTTTGTCATCTTAGACAAAGGATACTGAAGGGGGTTGGCTGAAATCACCTCTAAAGGCCCACCAGCTCTCAGTGTCCGTGTGCCA... | GAGCCCTTGTAGATGAAGCAATAAGGCTCTGAGAGGCTGTGTAACCTACCAGAGGGCGCCCCTGTTATGGGAGAGCTGGCATCTGCAAAATCCACCCTCTCTCCTCTCCACCACTGTTGATTCCAGCCCCTTCTGGGAAGATCTTCAGCATCTATAAAACACCGCTTTTTCTTTTAAAATACAAAATAAAATTGTGGTCATTACAGAGATCATGTGCTGCATTGGTAATTGTGGGGTTTGTCATCTTAGACAAAGGATACTGAAGGGGGTTGGCTGAAATCACCTCTAAAGGCCCACCAGCTCTCAGTGTCCGTGTGCCA... |
Task1_train_16758 | A change on Chromosome 11 affects gene SCN4B (sodium voltage-gated channel beta subunit 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Long QT syndrome 10 | TTGTTCTCCAGACAAGCCCACTTCCCAGACTCTCTGCCTTGGCTCTCAGTGGTGCCTCCATCTGGAAGAATCTTCCCTTTACTCTCCCCAGGGCTTAAGTTATATTAATCTTGCAAGGCCTGCCACAAACACCCATTCAGCCAGAAATCCTTCCCAGAATTTCACCCTGCCCTGAACCCCCACAGCAGCATCGTATCAAACCTCTTTGCTGGCACTGATCCCCTCTACCTTGTATTACATTTATTTGTATACACATTTATTTGTATCTTGTCTTCTTTAGTTAAAGGCAGAATCTCATTCCTTCCATAATTTCCTATAGC... | TTGTTCTCCAGACAAGCCCACTTCCCAGACTCTCTGCCTTGGCTCTCAGTGGTGCCTCCATCTGGAAGAATCTTCCCTTTACTCTCCCCAGGGCTTAAGTTATATTAATCTTGCAAGGCCTGCCACAAACACCCATTCAGCCAGAAATCCTTCCCAGAATTTCACCCTGCCCTGAACCCCCACAGCAGCATCGTATCAAACCTCTTTGCTGGCACTGATCCCCTCTACCTTGTATTACATTTATTTGTATACACATTTATTTGTATCTTGTCTTCTTTAGTTAAAGGCAGAATCTCATTCCTTCCATAATTTCCTATAGC... |
Task1_train_16759 | Consider this mutation in SCN4B (sodium voltage-gated channel beta subunit 4) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Atrial fibrillation, familial, 17 | TGGCTCTCAGTGGTGCCTCCATCTGGAAGAATCTTCCCTTTACTCTCCCCAGGGCTTAAGTTATATTAATCTTGCAAGGCCTGCCACAAACACCCATTCAGCCAGAAATCCTTCCCAGAATTTCACCCTGCCCTGAACCCCCACAGCAGCATCGTATCAAACCTCTTTGCTGGCACTGATCCCCTCTACCTTGTATTACATTTATTTGTATACACATTTATTTGTATCTTGTCTTCTTTAGTTAAAGGCAGAATCTCATTCCTTCCATAATTTCCTATAGCATCTGGCACAGTGCCTCAAAAACAGCCACAAAATGAACA... | TGGCTCTCAGTGGTGCCTCCATCTGGAAGAATCTTCCCTTTACTCTCCCCAGGGCTTAAGTTATATTAATCTTGCAAGGCCTGCCACAAACACCCATTCAGCCAGAAATCCTTCCCAGAATTTCACCCTGCCCTGAACCCCCACAGCAGCATCGTATCAAACCTCTTTGCTGGCACTGATCCCCTCTACCTTGTATTACATTTATTTGTATACACATTTATTTGTATCTTGTCTTCTTTAGTTAAAGGCAGAATCTCATTCCTTCCATAATTTCCTATAGCATCTGGCACAGTGCCTCAAAAACAGCCACAAAATGAACA... |
Task1_train_16760 | This alteration in SCN4B (sodium voltage-gated channel beta subunit 4) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Atrial fibrillation, familial, 17 | GGTGCCTCCATCTGGAAGAATCTTCCCTTTACTCTCCCCAGGGCTTAAGTTATATTAATCTTGCAAGGCCTGCCACAAACACCCATTCAGCCAGAAATCCTTCCCAGAATTTCACCCTGCCCTGAACCCCCACAGCAGCATCGTATCAAACCTCTTTGCTGGCACTGATCCCCTCTACCTTGTATTACATTTATTTGTATACACATTTATTTGTATCTTGTCTTCTTTAGTTAAAGGCAGAATCTCATTCCTTCCATAATTTCCTATAGCATCTGGCACAGTGCCTCAAAAACAGCCACAAAATGAACAGATAAATGAAT... | GGTGCCTCCATCTGGAAGAATCTTCCCTTTACTCTCCCCAGGGCTTAAGTTATATTAATCTTGCAAGGCCTGCCACAAACACCCATTCAGCCAGAAATCCTTCCCAGAATTTCACCCTGCCCTGAACCCCCACAGCAGCATCGTATCAAACCTCTTTGCTGGCACTGATCCCCTCTACCTTGTATTACATTTATTTGTATACACATTTATTTGTATCTTGTCTTCTTTAGTTAAAGGCAGAATCTCATTCCTTCCATAATTTCCTATAGCATCTGGCACAGTGCCTCAAAAACAGCCACAAAATGAACAGATAAATGAAT... |
Task1_train_16761 | The gene CD3G (CD3 gamma subunit of T-cell receptor complex) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Combined immunodeficiency due to CD3gamma deficiency | GCTCAGACTGGTCTCAAACTCCTGGCCTCAAAGGATCCTCCCACTTCGGCCTCCCAAAGCTCTGGGATTACTGGTGTGAGCCACCGTGCCTGGCAAGAAACACTTTCAAGTGGGCCTCACTCCCATCAGTAATGTCCCTCTCAGGTCCCTTCCCCCACCCACCTGGAGTAGCCTTACCTTGCGAGAGAAGGGTAGCCAGTACCAGGCCAGAGAGAAACGTGCTATGTTCCATCTCCCAGCGGAACTCATCCAGTAGATAAAGCCAGGTCACCGAACTATCAGCCTGGGTGAGAGCTGCCCTCCCCTAGCTGACTCACAGG... | GCTCAGACTGGTCTCAAACTCCTGGCCTCAAAGGATCCTCCCACTTCGGCCTCCCAAAGCTCTGGGATTACTGGTGTGAGCCACCGTGCCTGGCAAGAAACACTTTCAAGTGGGCCTCACTCCCATCAGTAATGTCCCTCTCAGGTCCCTTCCCCCACCCACCTGGAGTAGCCTTACCTTGCGAGAGAAGGGTAGCCAGTACCAGGCCAGAGAGAAACGTGCTATGTTCCATCTCCCAGCGGAACTCATCCAGTAGATAAAGCCAGGTCACCGAACTATCAGCCTGGGTGAGAGCTGCCCTCCCCTAGCTGACTCACAGG... |
Task1_train_16762 | A mutation in KMT2A (lysine methyltransferase 2A), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | GGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAA... | GGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAA... |
Task1_train_16763 | The gene KMT2A (lysine methyltransferase 2A) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | CACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAATAGAAGCTT... | CACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAATAGAAGCTT... |
Task1_train_16764 | This alteration occurs within gene KMT2A (lysine methyltransferase 2A) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | TTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAATAGAAGCTTAGTTGTTTGTTTGTTTTTAAGATA... | TTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAATAGAAGCTTAGTTGTTTGTTTGTTTTTAAGATA... |
Task1_train_16765 | The gene KMT2A (lysine methyltransferase 2A) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | GTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAATAGAAGCTTAGTTGTTTGTTTGTTTTTAAGATAGGGTCTCACTCTGTCACCCAGGGTGGCTCAAGTGATCCTCTTGTCCCAGCCTCCTGAGTA... | GTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAATAGAAGCTTAGTTGTTTGTTTGTTTTTAAGATAGGGTCTCACTCTGTCACCCAGGGTGGCTCAAGTGATCCTCTTGTCCCAGCCTCCTGAGTA... |
Task1_train_16766 | A variant was discovered on Chromosome 11, affecting KMT2A (lysine methyltransferase 2A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | ATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAATAGAAGCTTAGTTGTTTGTTTGTTTTTAAGATAGGGTCTCACTCTGTCACCCAGGGTGGCTCAAGTGATCCTCTTGTCCCAGCCTCCTGAGTAGCT... | ATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAATAGAAGCTTAGTTGTTTGTTTGTTTTTAAGATAGGGTCTCACTCTGTCACCCAGGGTGGCTCAAGTGATCCTCTTGTCCCAGCCTCCTGAGTAGCT... |
Task1_train_16767 | Chromosome 11 houses a mutation in gene KMT2A (lysine methyltransferase 2A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | TACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAATAGAAGCTTAGTTGTTTGTTTGTTTTTAAGATAGGGTCTCACTCTGTCACCCAGGGTGGCTCAAGTGATCCTCTTGTCCCAGCCTCCTGAGTAGCTAGA... | TACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAATAGAAGCTTAGTTGTTTGTTTGTTTTTAAGATAGGGTCTCACTCTGTCACCCAGGGTGGCTCAAGTGATCCTCTTGTCCCAGCCTCCTGAGTAGCTAGA... |
Task1_train_16768 | A change on Chromosome 11 affects gene KMT2A (lysine methyltransferase 2A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Wiedemann-Steiner syndrome | CCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAATAGAAGCTTAGTTGTTTGTTTGTTTTTAAGATAGGGTCTCACTCTGTCACCCAGGGTGGCTCAAGTGATCCTCTTGTCCCAGCCTCCTGAGTAGCTAGAAC... | CCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAATAGAAGCTTAGTTGTTTGTTTGTTTTTAAGATAGGGTCTCACTCTGTCACCCAGGGTGGCTCAAGTGATCCTCTTGTCCCAGCCTCCTGAGTAGCTAGAAC... |
Task1_train_16769 | Chromosome 11 houses a mutation in gene KMT2A (lysine methyltransferase 2A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Wiedemann-Steiner syndrome | CCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAATAGAAGCTTAGTTGTTTGTTTGTTTTTAAGATAGGGTCTCACTCTGTCACCCAGGGTGGCTCAAGTGATCCTCTTGTCCCAGCCTCCTGAGTAGCTAGAACT... | CCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAATAGAAGCTTAGTTGTTTGTTTGTTTTTAAGATAGGGTCTCACTCTGTCACCCAGGGTGGCTCAAGTGATCCTCTTGTCCCAGCCTCCTGAGTAGCTAGAACT... |
Task1_train_16770 | Here is a genetic alteration in KMT2A (lysine methyltransferase 2A) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Wiedemann-Steiner syndrome | GGTAAAGAAAATCCACGTCGGGTGCAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCTGACGCAGGAGGACCGCTTGAGCTCAGGAGTTCAAGACCAGCCTGAGCACCATAGTGAGACCTCATCTCTACTAAAAAAAAAATAAAATACCAGGCATGGTAGCATGTGCCTGTAGTCCCAGCTACTCTAGTCCCAGCTACTTGGGAGGCTGAGGTGAGAGGATCACTTGAGCCCAGGAGATCGAGGCTGCAGTGAGCCATTATCACGCCACTGCACTCCAGCCTGGGCAACTAAGCAAGACCCTGTCTCAAAAAAAT... | GGTAAAGAAAATCCACGTCGGGTGCAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCTGACGCAGGAGGACCGCTTGAGCTCAGGAGTTCAAGACCAGCCTGAGCACCATAGTGAGACCTCATCTCTACTAAAAAAAAAATAAAATACCAGGCATGGTAGCATGTGCCTGTAGTCCCAGCTACTCTAGTCCCAGCTACTTGGGAGGCTGAGGTGAGAGGATCACTTGAGCCCAGGAGATCGAGGCTGCAGTGAGCCATTATCACGCCACTGCACTCCAGCCTGGGCAACTAAGCAAGACCCTGTCTCAAAAAAAT... |
Task1_train_16771 | Chromosome 11 houses a mutation in gene KMT2A (lysine methyltransferase 2A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | ACTGGAAAAACACTTTCTGTTTATGTAAGTTGTGAACTTTACACATTTATAAAGTAGTCATTAGAAGAACCACACGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTAGCGGTCACCTGTAGTCCCAGCTACTCGGCAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGCGGCGGAGCTTGCAGTAAGCCGAGATCGCGCCAC... | ACTGGAAAAACACTTTCTGTTTATGTAAGTTGTGAACTTTACACATTTATAAAGTAGTCATTAGAAGAACCACACGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTAGCGGTCACCTGTAGTCCCAGCTACTCGGCAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGCGGCGGAGCTTGCAGTAAGCCGAGATCGCGCCAC... |
Task1_train_16772 | The variant affects gene KMT2A (lysine methyltransferase 2A), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | CACTCATGAAATAGTCACAGTAGGTGATCCTTTACTCTCCTCTGGACTTCGAAGCATTGGCTCCAGGCGTCACAGTACCTCTTCCTTATCACCCCAGCGGTCCAAACTCCGGATAATGTCTCCAATGAGAACTGGGAATACTTACTCTAGGAATAATGTTTCCTCAGTCTCCACCACCGGGACCGCTACTGATCTTGAATCAAGTGCCAAAGTAGTTGATCATGTCTTAGGGCCACTGAATTCAAGTACTAGTTTAGGGCAAAACACTTCCACCTCTTCAAATTTGCAAAGGACAGTGGTTACTGTAGGCAATAAAAACA... | CACTCATGAAATAGTCACAGTAGGTGATCCTTTACTCTCCTCTGGACTTCGAAGCATTGGCTCCAGGCGTCACAGTACCTCTTCCTTATCACCCCAGCGGTCCAAACTCCGGATAATGTCTCCAATGAGAACTGGGAATACTTACTCTAGGAATAATGTTTCCTCAGTCTCCACCACCGGGACCGCTACTGATCTTGAATCAAGTGCCAAAGTAGTTGATCATGTCTTAGGGCCACTGAATTCAAGTACTAGTTTAGGGCAAAACACTTCCACCTCTTCAAATTTGCAAAGGACAGTGGTTACTGTAGGCAATAAAAACA... |
Task1_train_16773 | Chromosome 11 houses a mutation in gene DDX6 (DEAD-box helicase 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | GAGTTCAGGAGTTCTGGACCAGCCTAGGCAACAAAGCAAGACCTTGTTTCTACCAAAAATTTAAAACATTAGGCAGGCGTGGTGGCATGTGCCTACAGTTCCAGCTACTCAGGAGCCCAGGAGAACCAGGCTGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGATGACAGTGAGACCTTGTCTCAAAAAGAAAAACAAATTGCTGAAAAACATTCTTTTTTGCTTTCATTATTTTAGGACTCTGAATTTAAGTACTGCTAATCTACCACATTACCCGGGAAGCTGCATTCAAGAACAACATTTACAGATTCTC... | GAGTTCAGGAGTTCTGGACCAGCCTAGGCAACAAAGCAAGACCTTGTTTCTACCAAAAATTTAAAACATTAGGCAGGCGTGGTGGCATGTGCCTACAGTTCCAGCTACTCAGGAGCCCAGGAGAACCAGGCTGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGATGACAGTGAGACCTTGTCTCAAAAAGAAAAACAAATTGCTGAAAAACATTCTTTTTTGCTTTCATTATTTTAGGACTCTGAATTTAAGTACTGCTAATCTACCACATTACCCGGGAAGCTGCATTCAAGAACAACATTTACAGATTCTC... |
Task1_train_16774 | A genetic alteration is present in DDX6 (DEAD-box helicase 6) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Intellectual developmental disorder with impaired language and dysmorphic facies | AGTTCAGGAGTTCTGGACCAGCCTAGGCAACAAAGCAAGACCTTGTTTCTACCAAAAATTTAAAACATTAGGCAGGCGTGGTGGCATGTGCCTACAGTTCCAGCTACTCAGGAGCCCAGGAGAACCAGGCTGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGATGACAGTGAGACCTTGTCTCAAAAAGAAAAACAAATTGCTGAAAAACATTCTTTTTTGCTTTCATTATTTTAGGACTCTGAATTTAAGTACTGCTAATCTACCACATTACCCGGGAAGCTGCATTCAAGAACAACATTTACAGATTCTCG... | AGTTCAGGAGTTCTGGACCAGCCTAGGCAACAAAGCAAGACCTTGTTTCTACCAAAAATTTAAAACATTAGGCAGGCGTGGTGGCATGTGCCTACAGTTCCAGCTACTCAGGAGCCCAGGAGAACCAGGCTGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGATGACAGTGAGACCTTGTCTCAAAAAGAAAAACAAATTGCTGAAAAACATTCTTTTTTGCTTTCATTATTTTAGGACTCTGAATTTAAGTACTGCTAATCTACCACATTACCCGGGAAGCTGCATTCAAGAACAACATTTACAGATTCTCG... |
Task1_train_16775 | An alteration has been detected in DDX6 (DEAD-box helicase 6) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Intellectual developmental disorder with impaired language and dysmorphic facies | TCAGGAGTTCTGGACCAGCCTAGGCAACAAAGCAAGACCTTGTTTCTACCAAAAATTTAAAACATTAGGCAGGCGTGGTGGCATGTGCCTACAGTTCCAGCTACTCAGGAGCCCAGGAGAACCAGGCTGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGATGACAGTGAGACCTTGTCTCAAAAAGAAAAACAAATTGCTGAAAAACATTCTTTTTTGCTTTCATTATTTTAGGACTCTGAATTTAAGTACTGCTAATCTACCACATTACCCGGGAAGCTGCATTCAAGAACAACATTTACAGATTCTCGAAT... | TCAGGAGTTCTGGACCAGCCTAGGCAACAAAGCAAGACCTTGTTTCTACCAAAAATTTAAAACATTAGGCAGGCGTGGTGGCATGTGCCTACAGTTCCAGCTACTCAGGAGCCCAGGAGAACCAGGCTGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGATGACAGTGAGACCTTGTCTCAAAAAGAAAAACAAATTGCTGAAAAACATTCTTTTTTGCTTTCATTATTTTAGGACTCTGAATTTAAGTACTGCTAATCTACCACATTACCCGGGAAGCTGCATTCAAGAACAACATTTACAGATTCTCGAAT... |
Task1_train_16776 | Here is a genetic alteration in DDX6 (DEAD-box helicase 6) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Intellectual developmental disorder with impaired language and dysmorphic facies | AAAAATTTAAAACATTAGGCAGGCGTGGTGGCATGTGCCTACAGTTCCAGCTACTCAGGAGCCCAGGAGAACCAGGCTGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGATGACAGTGAGACCTTGTCTCAAAAAGAAAAACAAATTGCTGAAAAACATTCTTTTTTGCTTTCATTATTTTAGGACTCTGAATTTAAGTACTGCTAATCTACCACATTACCCGGGAAGCTGCATTCAAGAACAACATTTACAGATTCTCGAATGAGACTACAACCTCCCACAAGAGATATTATTTACTGTCATTTATGCTAGT... | AAAAATTTAAAACATTAGGCAGGCGTGGTGGCATGTGCCTACAGTTCCAGCTACTCAGGAGCCCAGGAGAACCAGGCTGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGATGACAGTGAGACCTTGTCTCAAAAAGAAAAACAAATTGCTGAAAAACATTCTTTTTTGCTTTCATTATTTTAGGACTCTGAATTTAAGTACTGCTAATCTACCACATTACCCGGGAAGCTGCATTCAAGAACAACATTTACAGATTCTCGAATGAGACTACAACCTCCCACAAGAGATATTATTTACTGTCATTTATGCTAGT... |
Task1_train_16777 | Gene DDX6 (DEAD-box helicase 6) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Intellectual developmental disorder with impaired language and dysmorphic facies | AATTTAAAACATTAGGCAGGCGTGGTGGCATGTGCCTACAGTTCCAGCTACTCAGGAGCCCAGGAGAACCAGGCTGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGATGACAGTGAGACCTTGTCTCAAAAAGAAAAACAAATTGCTGAAAAACATTCTTTTTTGCTTTCATTATTTTAGGACTCTGAATTTAAGTACTGCTAATCTACCACATTACCCGGGAAGCTGCATTCAAGAACAACATTTACAGATTCTCGAATGAGACTACAACCTCCCACAAGAGATATTATTTACTGTCATTTATGCTAGTGGG... | AATTTAAAACATTAGGCAGGCGTGGTGGCATGTGCCTACAGTTCCAGCTACTCAGGAGCCCAGGAGAACCAGGCTGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGATGACAGTGAGACCTTGTCTCAAAAAGAAAAACAAATTGCTGAAAAACATTCTTTTTTGCTTTCATTATTTTAGGACTCTGAATTTAAGTACTGCTAATCTACCACATTACCCGGGAAGCTGCATTCAAGAACAACATTTACAGATTCTCGAATGAGACTACAACCTCCCACAAGAGATATTATTTACTGTCATTTATGCTAGTGGG... |
Task1_train_16778 | Here is a genetic alteration in SLC37A4 (solute carrier family 37 member 4) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Glucose-6-phosphate transport defect | TTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCCTGAGCCTTAACACTGTGCTCTTTCCTTCT... | TTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCCTGAGCCTTAACACTGTGCTCTTTCCTTCT... |
Task1_train_16779 | This sequence variant lies in SLC37A4 (solute carrier family 37 member 4) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Glucose-6-phosphate transport defect | GCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGG... | GCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGG... |
Task1_train_16780 | Here is a mutation in SLC37A4 (solute carrier family 37 member 4) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Glucose-6-phosphate transport defect | ACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGT... | ACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGT... |
Task1_train_16781 | The gene SLC37A4 (solute carrier family 37 member 4) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Congenital disorder of glycosylation, type IIw | ACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGT... | ACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGT... |
Task1_train_16782 | Here’s a variant in SLC37A4 (solute carrier family 37 member 4) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Glucose-6-phosphate transport defect | AAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGT... | AAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGT... |
Task1_train_16783 | A sequence alteration has been identified in SLC37A4 (solute carrier family 37 member 4) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Glucose-6-phosphate transport defect | AGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCG... | AGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCG... |
Task1_train_16784 | This sequence variant lies in SLC37A4 (solute carrier family 37 member 4) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Glucose-6-phosphate transport defect | GGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCT... | GGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCT... |
Task1_train_16785 | Located on Chromosome 11, this mutation impacts SLC37A4 (solute carrier family 37 member 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Glucose-6-phosphate transport defect | CTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGA... | CTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGA... |
Task1_train_16786 | Given a variant located on Chromosome 11 and affecting SLC37A4 (solute carrier family 37 member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Glucose-6-phosphate transport defect | CTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAAC... | CTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAAC... |
Task1_train_16787 | Gene SLC37A4 (solute carrier family 37 member 4) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Phosphate transport defect | CTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAAC... | CTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAAC... |
Task1_train_16788 | Gene SLC37A4 (solute carrier family 37 member 4) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Glucose-6-phosphate transport defect | CTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAAC... | CTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAAC... |
Task1_train_16789 | The following genetic variant occurs in SLC37A4 (solute carrier family 37 member 4) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Congenital disorder of glycosylation, type IIw | CTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAAC... | CTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAAC... |
Task1_train_16790 | The gene LOC130006884, HYOU1 (ATAC-STARR-seq lymphoblastoid active region 5617| hypoxia up-regulated 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Granulocytopenia with immunoglobulin abnormality | AATGAAAAAATACACAGGCTAATCCACCTTTTCTCCACAAACATCTGCCAAAGTGGGTGTTTGCTTATGCACACTCCATGCCGTCACAGGCCTAGTCTCTCACCTGCCTTTTCTAAGGACTTGGAGGTGGCTGCCCATCTCCTTTGATTAAGAGCCCTCCATGAATAGGGTCCCAGCTCCTCTTTCTCCAAAGAGCCCCCTACTTCTCCACTCAATAACTGTATTGGCTATTACATCCATATTACCCCCAGATTTGTTCTTCAAAAACGGATTCCTGGCCGAGTGCAGTGGCTTATGCCTGTAATCTCAACACTTTGGGA... | AATGAAAAAATACACAGGCTAATCCACCTTTTCTCCACAAACATCTGCCAAAGTGGGTGTTTGCTTATGCACACTCCATGCCGTCACAGGCCTAGTCTCTCACCTGCCTTTTCTAAGGACTTGGAGGTGGCTGCCCATCTCCTTTGATTAAGAGCCCTCCATGAATAGGGTCCCAGCTCCTCTTTCTCCAAAGAGCCCCCTACTTCTCCACTCAATAACTGTATTGGCTATTACATCCATATTACCCCCAGATTTGTTCTTCAAAAACGGATTCCTGGCCGAGTGCAGTGGCTTATGCCTGTAATCTCAACACTTTGGGA... |
Task1_train_16791 | A variant has been detected on Chromosome 11 in HYOU1 (hypoxia up-regulated 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Granulocytopenia with immunoglobulin abnormality | CAGTGGGTAAGAATGACAGGTGCAACAGCATGCAGTTAGCACTGACTCGTCCCTTGACGTCCCATGGGTTTCCTATGCCCTTTCCTACGGGGCATTCCCGCCTTCCCCTACTCGCTCACCAGACTCATTTCGGCACTCTGGAGGGCCTGCTGTACAGGCCCAGGCACCCGCTCAAACAAGTCTGCACACAACTCCTCAAATTCCACACGAGTCACTTTTGCCTTGAAGTCCACATCATCCATCAGGCCTTCAATCTGGGAGAGGATGGGGACTGTCAGGGGGTTCTTGCCCAGCTCCCGCTCTCTTGGTGAGTAGGACAG... | CAGTGGGTAAGAATGACAGGTGCAACAGCATGCAGTTAGCACTGACTCGTCCCTTGACGTCCCATGGGTTTCCTATGCCCTTTCCTACGGGGCATTCCCGCCTTCCCCTACTCGCTCACCAGACTCATTTCGGCACTCTGGAGGGCCTGCTGTACAGGCCCAGGCACCCGCTCAAACAAGTCTGCACACAACTCCTCAAATTCCACACGAGTCACTTTTGCCTTGAAGTCCACATCATCCATCAGGCCTTCAATCTGGGAGAGGATGGGGACTGTCAGGGGGTTCTTGCCCAGCTCCCGCTCTCTTGGTGAGTAGGACAG... |
Task1_train_16792 | Here is a variant affecting LOC130006887, VPS11 (ATAC-STARR-seq lymphoblastoid active region 5620| VPS11 core subunit of CORVET and HOPS complexes) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Dystonia 32 | CCATTTGTGCTTCTGCCCAACAGTTGGTATCCTGAAACAGTTGCAATGAATTGGAGATATCCTGTGTGATGAAGAGGAAAGAAACTTGAGTTGGAAGTCAGGAAATCTGTGTGCATGGTGGTGGCTAGAGTTTCTTCCTATCATTTACCTCTTCAGACAAATGGACGCCACCTGCCCATCAACCAGATTGAGGAGAGGAGTGGATAAGAGGAGAGGCATCCACACCACATTCATTCCTTCAACCAAACATGGAACTTCTACCAGGCTCTGCTAGGCCTCGTTCACAGTTACGGTACAAGATGTAGCCCCCGCTCTCAGGG... | CCATTTGTGCTTCTGCCCAACAGTTGGTATCCTGAAACAGTTGCAATGAATTGGAGATATCCTGTGTGATGAAGAGGAAAGAAACTTGAGTTGGAAGTCAGGAAATCTGTGTGCATGGTGGTGGCTAGAGTTTCTTCCTATCATTTACCTCTTCAGACAAATGGACGCCACCTGCCCATCAACCAGATTGAGGAGAGGAGTGGATAAGAGGAGAGGCATCCACACCACATTCATTCCTTCAACCAAACATGGAACTTCTACCAGGCTCTGCTAGGCCTCGTTCACAGTTACGGTACAAGATGTAGCCCCCGCTCTCAGGG... |
Task1_train_16793 | An alteration has been detected in HMBS (hydroxymethylbilane synthase) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Acute intermittent porphyria | GAGTCTGAGGGCAGAAAGCTGTCACCTGCTTCGGCAATAGAGGCCCCAGATGTCTGGGTGCAAAAGAACTCCATAGCACCCCGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGGCCGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTAGGGAACACAGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGACGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGACAGGAG... | GAGTCTGAGGGCAGAAAGCTGTCACCTGCTTCGGCAATAGAGGCCCCAGATGTCTGGGTGCAAAAGAACTCCATAGCACCCCGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGGCCGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTAGGGAACACAGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGACGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGACAGGAG... |
Task1_train_16794 | Chromosome 11 houses a mutation in gene HMBS (hydroxymethylbilane synthase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | AGTCTGAGGGCAGAAAGCTGTCACCTGCTTCGGCAATAGAGGCCCCAGATGTCTGGGTGCAAAAGAACTCCATAGCACCCCGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGGCCGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTAGGGAACACAGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGACGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGACAGGAGA... | AGTCTGAGGGCAGAAAGCTGTCACCTGCTTCGGCAATAGAGGCCCCAGATGTCTGGGTGCAAAAGAACTCCATAGCACCCCGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGGCCGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTAGGGAACACAGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGACGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGACAGGAGA... |
Task1_train_16795 | Given this variant in gene HMBS (hydroxymethylbilane synthase) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | AGTCTGAGGGCAGAAAGCTGTCACCTGCTTCGGCAATAGAGGCCCCAGATGTCTGGGTGCAAAAGAACTCCATAGCACCCCGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGGCCGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTAGGGAACACAGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGACGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGACAGGAGA... | AGTCTGAGGGCAGAAAGCTGTCACCTGCTTCGGCAATAGAGGCCCCAGATGTCTGGGTGCAAAAGAACTCCATAGCACCCCGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGGCCGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTAGGGAACACAGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAGCCGACGTGGTGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGACAGGAGA... |
Task1_train_16796 | Here is a variant affecting HMBS (hydroxymethylbilane synthase) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Acute intermittent porphyria | GGAGGTTGCACTGAGCCGAGACCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCGCGACTCCCCCTCAAAAAAAGAAAAAAAAAAAAAATATATATATATATATACACACACACACATATTTTAGCTGGGCATGGTGGTGTGCGTCTGTAGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCTGGAAGGCAGTGGTTGTAGTTAGCTGAGAACATGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAACTACATAGGATGAACATCCCAGATCA... | GGAGGTTGCACTGAGCCGAGACCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCGCGACTCCCCCTCAAAAAAAGAAAAAAAAAAAAAATATATATATATATATACACACACACACATATTTTAGCTGGGCATGGTGGTGTGCGTCTGTAGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCTGGAAGGCAGTGGTTGTAGTTAGCTGAGAACATGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAACTACATAGGATGAACATCCCAGATCA... |
Task1_train_16797 | This variant affects the gene HMBS (hydroxymethylbilane synthase) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Acute intermittent porphyria | ACTGAGCCGAGACCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCGCGACTCCCCCTCAAAAAAAGAAAAAAAAAAAAAATATATATATATATATACACACACACACATATTTTAGCTGGGCATGGTGGTGTGCGTCTGTAGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCTGGAAGGCAGTGGTTGTAGTTAGCTGAGAACATGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAACTACATAGGATGAACATCCCAGATCAGGGAATGTT... | ACTGAGCCGAGACCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCGCGACTCCCCCTCAAAAAAAGAAAAAAAAAAAAAATATATATATATATATACACACACACACATATTTTAGCTGGGCATGGTGGTGTGCGTCTGTAGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCTGGAAGGCAGTGGTTGTAGTTAGCTGAGAACATGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAACTACATAGGATGAACATCCCAGATCAGGGAATGTT... |
Task1_train_16798 | A change on Chromosome 11 affects gene HMBS (hydroxymethylbilane synthase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | CTCCAGCCTGGGTGACAGAGCGCGACTCCCCCTCAAAAAAAGAAAAAAAAAAAAAATATATATATATATATACACACACACACATATTTTAGCTGGGCATGGTGGTGTGCGTCTGTAGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCTGGAAGGCAGTGGTTGTAGTTAGCTGAGAACATGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAACTACATAGGATGAACATCCCAGATCAGGGAATGTTGACTGTCGACAGTATCAGTATCTAC... | CTCCAGCCTGGGTGACAGAGCGCGACTCCCCCTCAAAAAAAGAAAAAAAAAAAAAATATATATATATATATACACACACACACATATTTTAGCTGGGCATGGTGGTGTGCGTCTGTAGTAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACCTGGAAGGCAGTGGTTGTAGTTAGCTGAGAACATGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAACTACATAGGATGAACATCCCAGATCAGGGAATGTTGACTGTCGACAGTATCAGTATCTAC... |
Task1_train_16799 | Gene HMBS (hydroxymethylbilane synthase) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Encephalopathy, porphyria-related | CAAAACAGTGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAAATGGGACCTCCGTCTTAGACTGAAGAATTCAGTTCTACGTGCTTAGCAGTGAATACTTTTGTCCAAGGTACTCTGGCAGGAGGAAGAGGCGTGTCCTCTTGAGTTCTTGACTTGGGCTCTGGCCTGTTAATATTTCCATGTTGGTGAAACCAGAGGCAGCACTCTAGGTGCACGAACTTTAGGCAGCGCAGCCTCCTAGTCTTATGGAACATCTGAGGCAGAAGAAACCTGAGTCCAACCTTTTCATTTTATAGATGAACAAACAGATCCTGG... | CAAAACAGTGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAAATGGGACCTCCGTCTTAGACTGAAGAATTCAGTTCTACGTGCTTAGCAGTGAATACTTTTGTCCAAGGTACTCTGGCAGGAGGAAGAGGCGTGTCCTCTTGAGTTCTTGACTTGGGCTCTGGCCTGTTAATATTTCCATGTTGGTGAAACCAGAGGCAGCACTCTAGGTGCACGAACTTTAGGCAGCGCAGCCTCCTAGTCTTATGGAACATCTGAGGCAGAAGAAACCTGAGTCCAACCTTTTCATTTTATAGATGAACAAACAGATCCTGG... |
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