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_2500 | A change on Chromosome 1 affects gene TNNT2 (troponin T2, cardiac type). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hypertrophic cardiomyopathy 2 | TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCA... | TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCA... |
Task1_train_2501 | Gene TNNT2 (troponin T2, cardiac type), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Dilated cardiomyopathy 1D | TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCA... | TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCA... |
Task1_train_2502 | This variant affects gene TNNT2 (troponin T2, cardiac type) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Cardiomyopathy, familial restrictive, 3 | TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCA... | TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCA... |
Task1_train_2503 | Here’s a variant in TNNT2 (troponin T2, cardiac type) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hypertrophic cardiomyopathy 2 | TCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCAC... | TCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCAC... |
Task1_train_2504 | This gene mutation involves TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | AGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAG... | AGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAG... |
Task1_train_2505 | Chromosome 1 houses a mutation in gene TNNT2 (troponin T2, cardiac type). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hypertrophic cardiomyopathy 2 | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... |
Task1_train_2506 | Located on Chromosome 1, this mutation impacts TNNT2 (troponin T2, cardiac type). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Cardiomyopathy, familial restrictive, 3 | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... |
Task1_train_2507 | The gene TNNT2 (troponin T2, cardiac type) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Dilated cardiomyopathy 1D | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... |
Task1_train_2508 | A variant was discovered on Chromosome 1, affecting TNNT2 (troponin T2, cardiac type). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cardiomyopathy | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... |
Task1_train_2509 | Given this variant in gene TNNT2 (troponin T2, cardiac type) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hypertrophic cardiomyopathy | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... |
Task1_train_2510 | A genomic change on Chromosome 1 affects TNNT2 (troponin T2, cardiac type). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cardiomyopathy, familial restrictive, 3 | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... |
Task1_train_2511 | A change on Chromosome 1 affects gene TNNT2 (troponin T2, cardiac type). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hypertrophic cardiomyopathy 2 | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... |
Task1_train_2512 | A sequence alteration has been identified in TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Dilated cardiomyopathy 1D | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... |
Task1_train_2513 | A variant found in Chromosome 1 affects TNNT2 (troponin T2, cardiac type). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Cardiovascular phenotype | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... |
Task1_train_2514 | Here is a variant affecting TNNT2 (troponin T2, cardiac type) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Primary familial hypertrophic cardiomyopathy | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... | GGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGT... |
Task1_train_2515 | The gene TNNT2 (troponin T2, cardiac type) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | ACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGA... | ACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGA... |
Task1_train_2516 | Mutation context: Chromosome 1, Gene TNNT2 (troponin T2, cardiac type). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hypertrophic cardiomyopathy | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... |
Task1_train_2517 | The gene TNNT2 (troponin T2, cardiac type) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Dilated cardiomyopathy 1D | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... |
Task1_train_2518 | Here is a variant affecting TNNT2 (troponin T2, cardiac type) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hypertrophic cardiomyopathy 2 | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... |
Task1_train_2519 | A mutation in TNNT2 (troponin T2, cardiac type), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cardiomyopathy, familial restrictive, 3 | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... |
Task1_train_2520 | Here’s a variant in TNNT2 (troponin T2, cardiac type) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cardiomyopathy | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... |
Task1_train_2521 | An alteration has been detected in TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cardiovascular phenotype | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... |
Task1_train_2522 | Here’s a variant in TNNT2 (troponin T2, cardiac type) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cardiomyopathy, familial restrictive, 3 | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... |
Task1_train_2523 | A mutation on Chromosome 1 affecting TNNT2 (troponin T2, cardiac type) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Dilated cardiomyopathy 1D | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... |
Task1_train_2524 | A mutation in TNNT2 (troponin T2, cardiac type), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hypertrophic cardiomyopathy 2 | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... | GCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTT... |
Task1_train_2525 | This alteration occurs within gene LMOD1 (leiomodin 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 | GCAGCAGGTGGGTGTGAGGAAAATGTCTGCTTTGGCATCAAACCTTCAAGTCCAGCTGCTGTCTGTCCCACTCCTCCTGTCTGGAGCCTACTCCCATCAGGCACTGTGCATCCAGGCCACTGCCCCTGCCACATCCTCTAATTAGCCTGGACTTTGGGGTATCCTCAGCCCCTCCCCACGCTCCCCTTTGGGCCCCCATGCCTCTCCATCTTTCTGCCATTTTCCCACACAGAGTGCCACTGGCCCAGCAGCTTTGCCCCGTGGGCTCCTCAGAGGCCTGAATCCTGGCCCTGGAGGGCAGTGGGGCTGGGGTGGATGTG... | GCAGCAGGTGGGTGTGAGGAAAATGTCTGCTTTGGCATCAAACCTTCAAGTCCAGCTGCTGTCTGTCCCACTCCTCCTGTCTGGAGCCTACTCCCATCAGGCACTGTGCATCCAGGCCACTGCCCCTGCCACATCCTCTAATTAGCCTGGACTTTGGGGTATCCTCAGCCCCTCCCCACGCTCCCCTTTGGGCCCCCATGCCTCTCCATCTTTCTGCCATTTTCCCACACAGAGTGCCACTGGCCCAGCAGCTTTGCCCCGTGGGCTCCTCAGAGGCCTGAATCCTGGCCCTGGAGGGCAGTGGGGCTGGGGTGGATGTG... |
Task1_train_2526 | Here’s a variant in LMOD1 (leiomodin 1) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 | GGGTATCCTCAGCCCCTCCCCACGCTCCCCTTTGGGCCCCCATGCCTCTCCATCTTTCTGCCATTTTCCCACACAGAGTGCCACTGGCCCAGCAGCTTTGCCCCGTGGGCTCCTCAGAGGCCTGAATCCTGGCCCTGGAGGGCAGTGGGGCTGGGGTGGATGTGGTCCCTGTGGGACATCTTTCCTGGATCACAGGCCTTTTGCAGCTTGCCAGCTACATGGGCCCTGGACAGTGCCATCTTCTCAGTGATGTGCTAAAAGGACTCTTCTTGTCCAGAAACCTGAGCTCCATGTACTAAAGCAAAATTTGGAGAGCCTCA... | GGGTATCCTCAGCCCCTCCCCACGCTCCCCTTTGGGCCCCCATGCCTCTCCATCTTTCTGCCATTTTCCCACACAGAGTGCCACTGGCCCAGCAGCTTTGCCCCGTGGGCTCCTCAGAGGCCTGAATCCTGGCCCTGGAGGGCAGTGGGGCTGGGGTGGATGTGGTCCCTGTGGGACATCTTTCCTGGATCACAGGCCTTTTGCAGCTTGCCAGCTACATGGGCCCTGGACAGTGCCATCTTCTCAGTGATGTGCTAAAAGGACTCTTCTTGTCCAGAAACCTGAGCTCCATGTACTAAAGCAAAATTTGGAGAGCCTCA... |
Task1_train_2527 | Here is a variant affecting UBE2T (ubiquitin conjugating enzyme E2 T) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Fanconi anemia complementation group T | TTTCACTATGAAAATTTAAAATAAATCAGTTTGAAATAACAGTATTGAAAACATCCATATATCTACCACCTGGATTCAAGCCACTTTACCTCTAAATACTCCAGCATATCTTCTAAGAATAAGAACATTCTCCCATATAAATGCAATACTATTACCCCTTTGAAAAATTTAAGAACTAATTCCCTAATATCATTTACTGTTCAGATTTCAGTTGTTCTCCCCAGTTTTTTTTTTTTATTGCTGGGTTTTTCAAAACAGGACCCAATTACAATTCATACGTTGCATTTGGTTATTATGTATCTTTAGTGAGACACCGACCT... | TTTCACTATGAAAATTTAAAATAAATCAGTTTGAAATAACAGTATTGAAAACATCCATATATCTACCACCTGGATTCAAGCCACTTTACCTCTAAATACTCCAGCATATCTTCTAAGAATAAGAACATTCTCCCATATAAATGCAATACTATTACCCCTTTGAAAAATTTAAGAACTAATTCCCTAATATCATTTACTGTTCAGATTTCAGTTGTTCTCCCCAGTTTTTTTTTTTTATTGCTGGGTTTTTCAAAACAGGACCCAATTACAATTCATACGTTGCATTTGGTTATTATGTATCTTTAGTGAGACACCGACCT... |
Task1_train_2528 | A variant on Chromosome 1 in gene SYT2 (synaptotagmin 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Congenital myasthenic syndrome 7 | AAGCAAAACCAAAAGCCCCTTCCCCCTTTTTAAAATAAAATAAAAAGACACTCTGCAACTTCTTCACACTGGATCCTCAAAGCCTGATTCCCTCCAACACTGTCCATCTGTCTTGGGTGTCTACAGGAAGCTGAAGTGGCCCAGATGGGGCAGGATAGAGATGCTGCCATTTGTGCTGGGAAAGAGAGATACTCAGGCTTCTGGAGAAGCCATGAGTTTTCTGTGGTGAAAAAATGGCAAGGGCCTGAGGGCTTCATGGATGGAAAAGAGAGGTCAAAGGAAGGCAGGCAAGGAGGGCTGGCCTCTGGCCACAAGGGGAC... | AAGCAAAACCAAAAGCCCCTTCCCCCTTTTTAAAATAAAATAAAAAGACACTCTGCAACTTCTTCACACTGGATCCTCAAAGCCTGATTCCCTCCAACACTGTCCATCTGTCTTGGGTGTCTACAGGAAGCTGAAGTGGCCCAGATGGGGCAGGATAGAGATGCTGCCATTTGTGCTGGGAAAGAGAGATACTCAGGCTTCTGGAGAAGCCATGAGTTTTCTGTGGTGAAAAAATGGCAAGGGCCTGAGGGCTTCATGGATGGAAAAGAGAGGTCAAAGGAAGGCAGGCAAGGAGGGCTGGCCTCTGGCCACAAGGGGAC... |
Task1_train_2529 | This alteration in SYT2 (synaptotagmin 2) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | CTTCCCCCTTTTTAAAATAAAATAAAAAGACACTCTGCAACTTCTTCACACTGGATCCTCAAAGCCTGATTCCCTCCAACACTGTCCATCTGTCTTGGGTGTCTACAGGAAGCTGAAGTGGCCCAGATGGGGCAGGATAGAGATGCTGCCATTTGTGCTGGGAAAGAGAGATACTCAGGCTTCTGGAGAAGCCATGAGTTTTCTGTGGTGAAAAAATGGCAAGGGCCTGAGGGCTTCATGGATGGAAAAGAGAGGTCAAAGGAAGGCAGGCAAGGAGGGCTGGCCTCTGGCCACAAGGGGACCTCACTCTGTTGTCCAGG... | CTTCCCCCTTTTTAAAATAAAATAAAAAGACACTCTGCAACTTCTTCACACTGGATCCTCAAAGCCTGATTCCCTCCAACACTGTCCATCTGTCTTGGGTGTCTACAGGAAGCTGAAGTGGCCCAGATGGGGCAGGATAGAGATGCTGCCATTTGTGCTGGGAAAGAGAGATACTCAGGCTTCTGGAGAAGCCATGAGTTTTCTGTGGTGAAAAAATGGCAAGGGCCTGAGGGCTTCATGGATGGAAAAGAGAGGTCAAAGGAAGGCAGGCAAGGAGGGCTGGCCTCTGGCCACAAGGGGACCTCACTCTGTTGTCCAGG... |
Task1_train_2530 | This genomic variant is located on Chromosome 1, within the SYT2 (synaptotagmin 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Congenital myasthenic syndrome 7 | TGATAAAGGTTATGCTAGAGAGATGGGCACAAGGTACTGTGGAAACTTAGAGGAGGTGACAGTCCTGGGGCCAATCAGAAAAGGCTTCACAGAAGAGGTGACTGGGACATGAAGTCTGAGAATTTCTCTAGGAGGAGAAAAGAAGGAAGAGGATTCCAGGAAAACAGATTTGCTTGGGTAGAGGCATAGAGACCTGAGAGTGCATTTGGCATCTGAGAAACATTAGATGTTCAGTCATTGAGGTATAGGGTGAGAAGCAGTGAGGCAGGAAATGAGGCTGGTAGAGTAGGTTGGGGTCAGCCAAGGAGTCTGCATTTTGT... | TGATAAAGGTTATGCTAGAGAGATGGGCACAAGGTACTGTGGAAACTTAGAGGAGGTGACAGTCCTGGGGCCAATCAGAAAAGGCTTCACAGAAGAGGTGACTGGGACATGAAGTCTGAGAATTTCTCTAGGAGGAGAAAAGAAGGAAGAGGATTCCAGGAAAACAGATTTGCTTGGGTAGAGGCATAGAGACCTGAGAGTGCATTTGGCATCTGAGAAACATTAGATGTTCAGTCATTGAGGTATAGGGTGAGAAGCAGTGAGGCAGGAAATGAGGCTGGTAGAGTAGGTTGGGGTCAGCCAAGGAGTCTGCATTTTGT... |
Task1_train_2531 | A mutation found in KDM5B (lysine demethylase 5B) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Intellectual disability, autosomal recessive 65 | GTTCCAAGAAAAAAAAGCACCGTTTCAGGCTCTCAGAAGGGGGCAGAGAAGAACCAGATCCTTTCTAATGCCATCAGGCTTTACTTTTAATAAAAGTTTTCCACAGAATAAACAGCTCCCAGCCCTCTAACTCTGCCATGTCCTCTTCCCTATTCCTAACTGCTTTCCTTTGTTCCTTTTCCTTTTCTTCCTTCCTTCTCTACTTCCTTTTCATTCCTTCCTTCCTTCCTCTTCCTTCTTCCTTTCTCTTTTTTGTTCCTTCTTTTCATTTCCTTCCTTCCCTTTGCTAGCTGGGAAGTTGGAAAACACTAACTTGGATT... | GTTCCAAGAAAAAAAAGCACCGTTTCAGGCTCTCAGAAGGGGGCAGAGAAGAACCAGATCCTTTCTAATGCCATCAGGCTTTACTTTTAATAAAAGTTTTCCACAGAATAAACAGCTCCCAGCCCTCTAACTCTGCCATGTCCTCTTCCCTATTCCTAACTGCTTTCCTTTGTTCCTTTTCCTTTTCTTCCTTCCTTCTCTACTTCCTTTTCATTCCTTCCTTCCTTCCTCTTCCTTCTTCCTTTCTCTTTTTTGTTCCTTCTTTTCATTTCCTTCCTTCCCTTTGCTAGCTGGGAAGTTGGAAAACACTAACTTGGATT... |
Task1_train_2532 | An alteration has been detected in ADIPOR1 (adiponectin receptor 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | CAAGTAGCTGGGATTATACCTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATAATCCACCCACCTCAGCCTCCCAAAGTGCTTGGATTAAAGGCGTGAGCCACTGCATCCAGTCTATTATTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCCAGAGTGCAGTGGTGTGATCCCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCGTGCCTTACCCTCCCGAGTAGCTGGGATTATAGGCGCCCACCACC... | CAAGTAGCTGGGATTATACCTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATAATCCACCCACCTCAGCCTCCCAAAGTGCTTGGATTAAAGGCGTGAGCCACTGCATCCAGTCTATTATTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCCAGAGTGCAGTGGTGTGATCCCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCGTGCCTTACCCTCCCGAGTAGCTGGGATTATAGGCGCCCACCACC... |
Task1_train_2533 | A variant affecting Chromosome 1, within the gene SNRPE (small nuclear ribonucleoprotein polypeptide E), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypotrichosis 11 | TACCGTGGCCAGGGTCAGAAAGTGCAGAAGGTTATGGTGCAGCCCATCGTATCCTACGCAGGATGTCAGGACTAGGAGGTTCGGGTCAGAATACGGGGTGCGAAGGCGCAGGCTGAGGGCAGGCCTGGGATAGTGGAGTACGGATCCACATCCCATGAGCCCCCGGGGCTACCAAGACTGGAAGAAAGCGCGGGTAGTTGAACCGTGATGGTGGGGAGGTGGTCTTGGGGGGACCCCTGCCGTGGGGAATGCAGGAATGGACGCGGCAAAAGGAGGGAAGAGAACTTCAGGTGCGGAGTGAAAACGGGAGTTAACGGTTT... | TACCGTGGCCAGGGTCAGAAAGTGCAGAAGGTTATGGTGCAGCCCATCGTATCCTACGCAGGATGTCAGGACTAGGAGGTTCGGGTCAGAATACGGGGTGCGAAGGCGCAGGCTGAGGGCAGGCCTGGGATAGTGGAGTACGGATCCACATCCCATGAGCCCCCGGGGCTACCAAGACTGGAAGAAAGCGCGGGTAGTTGAACCGTGATGGTGGGGAGGTGGTCTTGGGGGGACCCCTGCCGTGGGGAATGCAGGAATGGACGCGGCAAAAGGAGGGAAGAGAACTTCAGGTGCGGAGTGAAAACGGGAGTTAACGGTTT... |
Task1_train_2534 | A variant affecting Chromosome 1, within the gene REN (renin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Renal tubular dysgenesis | GTCTCCTTACTCGGAATCTCTGCAGAGAAAGAGAGACAGCAGAAAGGAAGCTTCATTTCATGCCAGCCTCATCAGCCCTGCTGTTTGGCAGGGTGGGTGTTATGTACTCTCTTTGCCCTTCAGGCAATGGAGTCACCAAGAGGCGAAGTCACTTGCCTGAAGTTACCCAGTCCATGAGTGAACAAGTGGGGGACTGGAGCCAGGCTCCTGGTGCCCCGTCTGGAGCTGATTCCCCTCACCTTCCTTTCCTCCTCACTGCACTTGGCTCAGGGACTACTGTAGGCCTAGTCTCCAGGGCATGCCTGTGTGTGTGATGTGTT... | GTCTCCTTACTCGGAATCTCTGCAGAGAAAGAGAGACAGCAGAAAGGAAGCTTCATTTCATGCCAGCCTCATCAGCCCTGCTGTTTGGCAGGGTGGGTGTTATGTACTCTCTTTGCCCTTCAGGCAATGGAGTCACCAAGAGGCGAAGTCACTTGCCTGAAGTTACCCAGTCCATGAGTGAACAAGTGGGGGACTGGAGCCAGGCTCCTGGTGCCCCGTCTGGAGCTGATTCCCCTCACCTTCCTTTCCTCCTCACTGCACTTGGCTCAGGGACTACTGTAGGCCTAGTCTCCAGGGCATGCCTGTGTGTGTGATGTGTT... |
Task1_train_2535 | This variant lies on Chromosome 1 and affects the gene REN (renin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Renal tubular dysgenesis | CTTGTCTCCAACTCATGCCATCTTTCTAAGCCCAGCAGTTTGGAGTAGAGCCCAACCCTGCTCAAGAGCTTCCCCAAGGCTGGCTGAGCTGCATATAAGCTCAGCCTAGAATTGAAAAGCATCCATGGTTTTCAGCACCACACTTGCTGCCTGCCTGTGACACTCTTTATGTTGGAATATGTCTTGTCTTCCCTGTTAGCCTGTAAGCTCTATGTGGGTAGGGGAGTACAGATTCTGCCTTGTTCACTGTGTTCACTGCTGCACCCCCAGAGCCTACCACAGTGCTTGGCACATAGCATTTACTGAACTGATGAGTGAGC... | CTTGTCTCCAACTCATGCCATCTTTCTAAGCCCAGCAGTTTGGAGTAGAGCCCAACCCTGCTCAAGAGCTTCCCCAAGGCTGGCTGAGCTGCATATAAGCTCAGCCTAGAATTGAAAAGCATCCATGGTTTTCAGCACCACACTTGCTGCCTGCCTGTGACACTCTTTATGTTGGAATATGTCTTGTCTTCCCTGTTAGCCTGTAAGCTCTATGTGGGTAGGGGAGTACAGATTCTGCCTTGTTCACTGTGTTCACTGCTGCACCCCCAGAGCCTACCACAGTGCTTGGCACATAGCATTTACTGAACTGATGAGTGAGC... |
Task1_train_2536 | This alteration in LOC107548112, REN (REN promoter and enhancer region| renin) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Familial juvenile hyperuricemic nephropathy type 2 | CATCCTCTTACCCAGTGCTCACAACCCAGCAATTACTCTCCGAGAGCCTCAGAGCAAGGGAAAGCAGTTTCGGAAGCAAAAGGCCCAGTGTGTGTTGAGGCTTAGCCTCTTACATATCACCTCCCTGAGCCTCAGTGTCCTCATCTGCAAAGTGGGAATGCTGAGTTGTTGGGGGCATGACTTGAGATGAGACATGTGAAAAGATCCTGTGACACCCTAAGCATTTTATAGGCTTAGCAACTATTACCATTATTAAAGTGTGCCTCCCTACCTTCAGGACTGCTGGTCATATCTGCTGTCCCCAGATTGAAAACCCCTTT... | CATCCTCTTACCCAGTGCTCACAACCCAGCAATTACTCTCCGAGAGCCTCAGAGCAAGGGAAAGCAGTTTCGGAAGCAAAAGGCCCAGTGTGTGTTGAGGCTTAGCCTCTTACATATCACCTCCCTGAGCCTCAGTGTCCTCATCTGCAAAGTGGGAATGCTGAGTTGTTGGGGGCATGACTTGAGATGAGACATGTGAAAAGATCCTGTGACACCCTAAGCATTTTATAGGCTTAGCAACTATTACCATTATTAAAGTGTGCCTCCCTACCTTCAGGACTGCTGGTCATATCTGCTGTCCCCAGATTGAAAACCCCTTT... |
Task1_train_2537 | A variant affecting Chromosome 1, within the gene KISS1 (KiSS-1 metastasis suppressor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypogonadotropic hypogonadism 13 with or without anosmia | TGGGATGGGCATTCAACCCCCTTCTAGCTGTCTGCTGAAGCAGGGCCTCTGGTCAGCTAGACGAGAGATCTTGGGGGACCCTCGGGTTGCAGCAGTGCTGACAAGGACTGGAAGATGGTTAGAGGAACCCACACTATACACAAGGTCACACAGGCATGTGCATATGAACTTCATGCAGTTTCTTATATTGACCCCCCTCATACATGCCCTCTCACACACACCCCAGCTTCTCACACCAGAGAACACATTTCACTCTCCCGCACTTGAAGCGGCACACACACTCCTCCCATCTGCCCAAGCTTAAGCTTGTGAGGAAGAGT... | TGGGATGGGCATTCAACCCCCTTCTAGCTGTCTGCTGAAGCAGGGCCTCTGGTCAGCTAGACGAGAGATCTTGGGGGACCCTCGGGTTGCAGCAGTGCTGACAAGGACTGGAAGATGGTTAGAGGAACCCACACTATACACAAGGTCACACAGGCATGTGCATATGAACTTCATGCAGTTTCTTATATTGACCCCCCTCATACATGCCCTCTCACACACACCCCAGCTTCTCACACCAGAGAACACATTTCACTCTCCCGCACTTGAAGCGGCACACACACTCCTCCCATCTGCCCAAGCTTAAGCTTGTGAGGAAGAGT... |
Task1_train_2538 | The gene PPP1R15B (protein phosphatase 1 regulatory subunit 15B) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Microcephaly, short stature, and impaired glucose metabolism 2 | CACAAAACACACAGAATCCCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACGAGGTCAGCAGTTCAAGACCAGTCTGGCCAACATAGCGAAACCCCGTCTCTACTAAAAAGACACAAAAAATTAGCCGGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAAGCTGGGGGACCGAACGAGACTCTGTCTCAAAAAAAAAAGAAAAAAACAAAAAACACACAGAATAAGGGCTCTGCAAA... | CACAAAACACACAGAATCCCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACGAGGTCAGCAGTTCAAGACCAGTCTGGCCAACATAGCGAAACCCCGTCTCTACTAAAAAGACACAAAAAATTAGCCGGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAAGCTGGGGGACCGAACGAGACTCTGTCTCAAAAAAAAAAGAAAAAAACAAAAAACACACAGAATAAGGGCTCTGCAAA... |
Task1_train_2539 | Given a variant located on Chromosome 1 and affecting NFASC (neurofascin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Neurodevelopmental disorder with central and peripheral motor dysfunction | GAGCATCCTCCTCTGCACAGGAAAGATCAGCTTTTAGAGGACATGCATCCTCCTGGGCCCAAGTATACTTTTAGGCCACCTGGGTGTCCCCAGCTGTATAGAAGAGGAGAAAGGCCACGTTTAGTGATAACTTGTTTCCTGCTTGGCGCCTCTCCTAGCCCAACACCAGACATCGCATGGTACAAGAAAGGTGGGGACCTCCCATCTGATAAGGCCAAGTTTGAGAACTTTAATAAGGCCCTGCGTATCACAAATGTCTCTGAGGAAGACTCCGGGGAGTATTTCTGCCTGGCCTCCAACAAGATGGGCAGCATCCGGCA... | GAGCATCCTCCTCTGCACAGGAAAGATCAGCTTTTAGAGGACATGCATCCTCCTGGGCCCAAGTATACTTTTAGGCCACCTGGGTGTCCCCAGCTGTATAGAAGAGGAGAAAGGCCACGTTTAGTGATAACTTGTTTCCTGCTTGGCGCCTCTCCTAGCCCAACACCAGACATCGCATGGTACAAGAAAGGTGGGGACCTCCCATCTGATAAGGCCAAGTTTGAGAACTTTAATAAGGCCCTGCGTATCACAAATGTCTCTGAGGAAGACTCCGGGGAGTATTTCTGCCTGGCCTCCAACAAGATGGGCAGCATCCGGCA... |
Task1_train_2540 | Here is a variant affecting NFASC (neurofascin) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Neurodevelopmental disorder with central and peripheral motor dysfunction | ATAGCAGCTGGGTGGGAGTTGGGGAGAGGGGCTTTGTTTAAGCTGGGAAGGTTCAGGAAGACCTCTCTAGGAGGTGCCAGTTGCCAAGGCAGCCATTAGAAGAAAAAGCAGCAGATGCAAAGGCCCTGCAGTAGGAATGAGAGCGGCCAGCATGGCTGGAGCATAAAGCATGAGGACAGGGTGGTGGGAGGTAGGACTAGAGAGATGGCCAGGGCCTGCTCTGATGGAGCCCGACAGGTCAGGATAAGGAATGGAGAGTTTTCTTCAATAACAATAAGAAGCTTTGGAGGGTTAAAGCAAGGAAGTGATTCAGTCCTACG... | ATAGCAGCTGGGTGGGAGTTGGGGAGAGGGGCTTTGTTTAAGCTGGGAAGGTTCAGGAAGACCTCTCTAGGAGGTGCCAGTTGCCAAGGCAGCCATTAGAAGAAAAAGCAGCAGATGCAAAGGCCCTGCAGTAGGAATGAGAGCGGCCAGCATGGCTGGAGCATAAAGCATGAGGACAGGGTGGTGGGAGGTAGGACTAGAGAGATGGCCAGGGCCTGCTCTGATGGAGCCCGACAGGTCAGGATAAGGAATGGAGAGTTTTCTTCAATAACAATAAGAAGCTTTGGAGGGTTAAAGCAAGGAAGTGATTCAGTCCTACG... |
Task1_train_2541 | The gene SLC41A1 (solute carrier family 41 member 1) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Nephronophthisis-like nephropathy 2 | CTGTAAGCAGTCCCTTCATTAAGGTCTTGAACCATCTGAGCTAGATTCTCGTCTGCTGGAACCCTGACTGATACAGAAACCAACCCCTTAAGTCCTCTTCTCCTGTCCCTTTCCTTCCCCCAGCCCTGCCCTCTGATAGCTGATGCCCAGACCTCACCATTAATCACAGGCGTGAAGACAGCCATCCCAGCAAAGTTGGGGTCTGAGACAGTCTTGTCCAAGATGAGGCCTCCCACACTATAGAGACATAAAGACAAAATGACGCAAAGACCACTGAAGGGTTCTGCCTTAGTCTCTGGGATGAGAGGTCCAGGCCCACC... | CTGTAAGCAGTCCCTTCATTAAGGTCTTGAACCATCTGAGCTAGATTCTCGTCTGCTGGAACCCTGACTGATACAGAAACCAACCCCTTAAGTCCTCTTCTCCTGTCCCTTTCCTTCCCCCAGCCCTGCCCTCTGATAGCTGATGCCCAGACCTCACCATTAATCACAGGCGTGAAGACAGCCATCCCAGCAAAGTTGGGGTCTGAGACAGTCTTGTCCAAGATGAGGCCTCCCACACTATAGAGACATAAAGACAAAATGACGCAAAGACCACTGAAGGGTTCTGCCTTAGTCTCTGGGATGAGAGGTCCAGGCCCACC... |
Task1_train_2542 | A mutation found in CD55 (CD55 molecule (Cromer blood group)) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Protein-losing enteropathy | AATGGTCCACAGCAGTCGAATTTTGTAAAAGTGAGTAAAATTTTTTAAAGTATTTTCAACCATCTGGTGTTTGGGGGAAATAGTATCCCTTCCTTCATTCATGCTAGAACTCTATGTGTATATATTATTATATAGGATGTTTCTTGATAGGACCATGAGTGTCAATTTATTTTGAATTAGACTAAATATTTATGTGGTAGGAATACTTATTCATTCAAAAATTTCACATTTAATTAGTTTGAGGTTACCTAAAATAAAACAAGTATATATTCTAAATTCGTTGCTTTTTCAAAACTTATTATAAAGAGAAATTAGAATTA... | AATGGTCCACAGCAGTCGAATTTTGTAAAAGTGAGTAAAATTTTTTAAAGTATTTTCAACCATCTGGTGTTTGGGGGAAATAGTATCCCTTCCTTCATTCATGCTAGAACTCTATGTGTATATATTATTATATAGGATGTTTCTTGATAGGACCATGAGTGTCAATTTATTTTGAATTAGACTAAATATTTATGTGGTAGGAATACTTATTCATTCAAAAATTTCACATTTAATTAGTTTGAGGTTACCTAAAATAAAACAAGTATATATTCTAAATTCGTTGCTTTTTCAAAACTTATTATAAAGAGAAATTAGAATTA... |
Task1_train_2543 | A change on Chromosome 1 affects gene CD55 (CD55 molecule (Cromer blood group)). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Protein-losing enteropathy | CGTAGGACAGGCTGTCATTGAGTATATGCTATCAGCCTACAAACATCCCACCAACAGGGGAGAAATGCATCCAGAGGAGGGCCAGAGCACAGCCTTTTAAAATGTGGGGTTTGAGGCAGCAATCTTAGTTGCCTGAGTTCAAGAGTGACACTGATAGCAATGGCCTCCTGCCTCCATTCTTTCACTCTATTAATGTTTCATCCATATTTTACCCAGAGCGATCTGAAACACAGATGTGACTTAGACATCTATTTCCTCCTTAGAGCTTATTCATATCTCCTATCACTTAAAAAGCCCAAATTCCTTAGTATAGTGTACAA... | CGTAGGACAGGCTGTCATTGAGTATATGCTATCAGCCTACAAACATCCCACCAACAGGGGAGAAATGCATCCAGAGGAGGGCCAGAGCACAGCCTTTTAAAATGTGGGGTTTGAGGCAGCAATCTTAGTTGCCTGAGTTCAAGAGTGACACTGATAGCAATGGCCTCCTGCCTCCATTCTTTCACTCTATTAATGTTTCATCCATATTTTACCCAGAGCGATCTGAAACACAGATGTGACTTAGACATCTATTTCCTCCTTAGAGCTTATTCATATCTCCTATCACTTAAAAAGCCCAAATTCCTTAGTATAGTGTACAA... |
Task1_train_2544 | An alteration has been detected in LAMB3 (laminin subunit beta 3) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Junctional epidermolysis bullosa, non-Herlitz type | CAGAGGCAGCGCTTGGCAGGTGCTCAGACACCCTTGGCAAACTGTGGGATCCAGAAGCTGGTGGGGCCCTCTGGAGATTTCTATTCCAACAATCTATGAATACAGTTGTTTGGTTAATGGAACTGTTGTGATGAACTGTCACTAGACTCATTAAGGTATAAAAATAGAATAGCTGTTGCGTGCTAATTGCCTTCCAAATTAAGCCCAACACCTTCAGCTTGGCATTCAAGGACCTGTATCATGTTAGCTGCATTCTCAGCTCCCATGTCCTGCTGACAGCATAGCAAGATGAACTTCTAGCTGCTCCCTCTGCAAGCCCT... | CAGAGGCAGCGCTTGGCAGGTGCTCAGACACCCTTGGCAAACTGTGGGATCCAGAAGCTGGTGGGGCCCTCTGGAGATTTCTATTCCAACAATCTATGAATACAGTTGTTTGGTTAATGGAACTGTTGTGATGAACTGTCACTAGACTCATTAAGGTATAAAAATAGAATAGCTGTTGCGTGCTAATTGCCTTCCAAATTAAGCCCAACACCTTCAGCTTGGCATTCAAGGACCTGTATCATGTTAGCTGCATTCTCAGCTCCCATGTCCTGCTGACAGCATAGCAAGATGAACTTCTAGCTGCTCCCTCTGCAAGCCCT... |
Task1_train_2545 | Given this context: Chromosome 1, gene LAMB3 (laminin subunit beta 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Junctional epidermolysis bullosa | CAAGCCCTAAACCAAGCTCATTCCCTCCTCAGAGCCTTTGTCCAGTCTTTCTTGGAATGCTCCTCCCGCTGGTGGGTTCCCTCTCATCTTTTGTTCTCAGCTGAAATGTCATTTCCTGGTACAGATCTTTTGATACCTGACTGAACTGCATTCTCCTGCTCACGTCTGGCCCACCCCACCCTGCCCCATTATTTTCTATTTCAGCATCTTGTTTCCTTCAGAAACGTCACCACGATTTCCAATTATTTACTTGTTGGTTTCTTGCTTTTTATTCTTTTCCTGTGAGACCAGGATTTCTCAACCGTTCTCACTGTTAAAGT... | CAAGCCCTAAACCAAGCTCATTCCCTCCTCAGAGCCTTTGTCCAGTCTTTCTTGGAATGCTCCTCCCGCTGGTGGGTTCCCTCTCATCTTTTGTTCTCAGCTGAAATGTCATTTCCTGGTACAGATCTTTTGATACCTGACTGAACTGCATTCTCCTGCTCACGTCTGGCCCACCCCACCCTGCCCCATTATTTTCTATTTCAGCATCTTGTTTCCTTCAGAAACGTCACCACGATTTCCAATTATTTACTTGTTGGTTTCTTGCTTTTTATTCTTTTCCTGTGAGACCAGGATTTCTCAACCGTTCTCACTGTTAAAGT... |
Task1_train_2546 | The gene HSD11B1, HSD11B1-AS1 (hydroxysteroid 11-beta dehydrogenase 1| HSD11B1 antisense RNA 1) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cortisone reductase deficiency 2 | CATTCTGGGGCTCTTCATGGCCTACTACTACTATTCTGCAAACGAGGAATTCAGACCAGGTAAGTACCCATGCGTCTCATTTTGGAGGAATAGGTTTAAAAAACACAGGGGTGCTTGAGTGTTCCTGAGGACCAAGATGTGTTCTTGATCCTCAAAGTTGGTGAAAATGAGGGAACCCTGAGTTAAGATGGTATTTTTGTGTCCTCCAGCTACAGGCTGTGGACAGGGGGGACTGTGTAGGAAGGGTAATCGTGTAGCCAAAATCTAGCCAAATAGGCCATGCTTTATTTGGCACCCTTAATGGAAAGCAGTTTCAAATC... | CATTCTGGGGCTCTTCATGGCCTACTACTACTATTCTGCAAACGAGGAATTCAGACCAGGTAAGTACCCATGCGTCTCATTTTGGAGGAATAGGTTTAAAAAACACAGGGGTGCTTGAGTGTTCCTGAGGACCAAGATGTGTTCTTGATCCTCAAAGTTGGTGAAAATGAGGGAACCCTGAGTTAAGATGGTATTTTTGTGTCCTCCAGCTACAGGCTGTGGACAGGGGGGACTGTGTAGGAAGGGTAATCGTGTAGCCAAAATCTAGCCAAATAGGCCATGCTTTATTTGGCACCCTTAATGGAAAGCAGTTTCAAATC... |
Task1_train_2547 | Gene HSD11B1, HSD11B1-AS1 (hydroxysteroid 11-beta dehydrogenase 1| HSD11B1 antisense RNA 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cortisone reductase deficiency 2 | CATCTAATTTATTGGAAATCAATATCTTTCCTAGAAACCTCATCTGTTAGATTTCTCATTGACCAGAACTATTACGTTGCATGGCCTATTACGGCAAGAAAATCTCAGGGAGATGAGCATTTTAAAATGATTACGTTGCTGTCCTGAACAAAATCAGACTCTATTATTAAAGAAGGAGGAATGGATATTGGGTAGATAACACTATTTACTATCATTTTCCATCTAGAATATTTTTTGCTATATGACATAAAACAAAGAGTTAATTTTTTCCAATAAGTTAACCACCTTTCTCAGCATCTTTATTAAATAACCCATCCTTT... | CATCTAATTTATTGGAAATCAATATCTTTCCTAGAAACCTCATCTGTTAGATTTCTCATTGACCAGAACTATTACGTTGCATGGCCTATTACGGCAAGAAAATCTCAGGGAGATGAGCATTTTAAAATGATTACGTTGCTGTCCTGAACAAAATCAGACTCTATTATTAAAGAAGGAGGAATGGATATTGGGTAGATAACACTATTTACTATCATTTTCCATCTAGAATATTTTTTGCTATATGACATAAAACAAAGAGTTAATTTTTTCCAATAAGTTAACCACCTTTCTCAGCATCTTTATTAAATAACCCATCCTTT... |
Task1_train_2548 | This alteration in IRF6 (interferon regulatory factor 6) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Popliteal pterygium syndrome | ACTGGCCCAGATTCAAGAGCTGCCCTTCTAATTTACCTACAGTGGGTTTTTAACTTTGAGTTCCCACGTAGAGATGGGGCAGCCAAATATCAAGCCCAAATCCCTCACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTC... | ACTGGCCCAGATTCAAGAGCTGCCCTTCTAATTTACCTACAGTGGGTTTTTAACTTTGAGTTCCCACGTAGAGATGGGGCAGCCAAATATCAAGCCCAAATCCCTCACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTC... |
Task1_train_2549 | A variant was discovered on Chromosome 1, affecting IRF6 (interferon regulatory factor 6). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Popliteal pterygium syndrome | GTTTTTAACTTTGAGTTCCCACGTAGAGATGGGGCAGCCAAATATCAAGCCCAAATCCCTCACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAG... | GTTTTTAACTTTGAGTTCCCACGTAGAGATGGGGCAGCCAAATATCAAGCCCAAATCCCTCACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAG... |
Task1_train_2550 | Here is a variant affecting IRF6 (interferon regulatory factor 6) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Orofacial cleft 6, susceptibility to | ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGA... | ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGA... |
Task1_train_2551 | Assess the clinical impact of this variant on gene IRF6 (interferon regulatory factor 6), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autosomal dominant popliteal pterygium syndrome | ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGA... | ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGA... |
Task1_train_2552 | Here’s a variant in IRF6 (interferon regulatory factor 6) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Van der Woude syndrome 1 | ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGA... | ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGA... |
Task1_train_2553 | Chromosome 1 houses a mutation in gene IRF6 (interferon regulatory factor 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Popliteal pterygium syndrome | ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGA... | ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGA... |
Task1_train_2554 | This mutation is located in gene IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Orofacial cleft 6, susceptibility to | ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGA... | ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGA... |
Task1_train_2555 | Located on Chromosome 1, this mutation impacts IRF6 (interferon regulatory factor 6). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Van der Woude syndrome | ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGA... | ACTTCACCTACTCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGA... |
Task1_train_2556 | This gene mutation involves IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Van der Woude syndrome 1 | TCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCC... | TCAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCC... |
Task1_train_2557 | The gene IRF6 (interferon regulatory factor 6) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Van der Woude syndrome 1 | CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCT... | CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCT... |
Task1_train_2558 | This sequence variant lies in IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Orofacial cleft 6, susceptibility to | CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCT... | CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCT... |
Task1_train_2559 | This mutation is located in gene IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Popliteal pterygium syndrome | CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCT... | CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCT... |
Task1_train_2560 | Chromosome 1 houses a mutation in gene IRF6 (interferon regulatory factor 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Van der Woude syndrome | CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCT... | CAACAAAATGACCCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCT... |
Task1_train_2561 | Given this variant in gene IRF6 (interferon regulatory factor 6) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Van der Woude syndrome 1 | CCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCG... | CCCCAAAATGTAAAGTTTCTGTGCCTTTAATGCTTCCCGGTCCCTAAAAGCCCAACTTTTCCTCGAAGCTGGGCACCTGACCTTTAGCCAGGTTTCTTAATCTTTTCATGCTTTTCATAATAGCAAATTCCACTAGGTCTCTTAGAAACTCTAAAACCAAGGCTTAAGCACTTTAAATAAATAAGTCCTCATGTCACCACTGATTTTGAACTTTTAGTTTTTAAAATAAGGCTAGCTCAACTTTTGAGTCATTTTGAAAAGTTGGAGATGGCCTGGTTTAAAGGTACCAGACTAGACATGGGCTTCCTTACTATGTCCCG... |
Task1_train_2562 | Gene IRF6 (interferon regulatory factor 6) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Orofacial cleft 6, susceptibility to | AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGAT... | AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGAT... |
Task1_train_2563 | This sequence variant lies in IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Van der Woude syndrome | AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGAT... | AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGAT... |
Task1_train_2564 | The following genetic variant occurs in IRF6 (interferon regulatory factor 6) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Popliteal pterygium syndrome | AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGAT... | AAATGCCTGACAACCTATTCTTCCACAGAATCCCTAGGCTTTCTGTGTCAACAGCTTCCCTTTAGAAGCCAAATTTGTGAGCTTTCACTCCACAGGCTGGGTGACTTTCAGACTTTGGCACCCATTTCTATTTAGATATCAAGCATAGTTTCTAAGCAACCAGCCAGCCAGCTCCTCTCCCTCTCACTTCCCCCATCAGGGAGCCAGCTTACTATACTAGCAGAACAGGTCAAACAGAGCTCGATCCTGGACAAATCAGTGCTTGAGGAAACTTTAACAAAACCAAGGAAAAATGTGGTACAAGAACAATGCAGAAGGAT... |
Task1_train_2565 | With a mutation on Chromosome 1 in gene IRF6 (interferon regulatory factor 6), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Orofacial cleft 6, susceptibility to | TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGG... | TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGG... |
Task1_train_2566 | Located on Chromosome 1, this mutation impacts IRF6 (interferon regulatory factor 6). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Van der Woude syndrome | TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGG... | TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGG... |
Task1_train_2567 | This is a variant in IRF6 (interferon regulatory factor 6), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Popliteal pterygium syndrome | TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGG... | TGGGGGTGGGCTGCATGGGCTGCCAGCTCTCCTGGGTTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGG... |
Task1_train_2568 | This variant affects gene IRF6 (interferon regulatory factor 6) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Van der Woude syndrome 1 | TTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAA... | TTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAA... |
Task1_train_2569 | Given this context: Chromosome 1, gene IRF6 (interferon regulatory factor 6) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Popliteal pterygium syndrome | TTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAA... | TTTGAAGGATGCGGTACAGCTGCTTCAGCTGAGCAACGATGTTATCCTTGATGTCTGGGGTTGAGATCTGCAGGCGGACACTGCCACTATCAAAGGATCGTGTGAAATCACCAGAAAACATCTCGTAGATCATCCGAGCCACTACTGGAATGACCTGTTCAGGACACAGAACACAGGTGTATCCTCTGAGGAAAAGGTATTTTTAAATAGCACAATGGACCCAAGATTGAAGGACAGACCAAAGAGGCCCTGAGGAAGACCCCATTCTGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAA... |
Task1_train_2570 | The gene IRF6 (interferon regulatory factor 6) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Van der Woude syndrome | TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAG... | TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAG... |
Task1_train_2571 | Here is a genetic alteration in IRF6 (interferon regulatory factor 6) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Orofacial cleft 6, susceptibility to | TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAG... | TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAG... |
Task1_train_2572 | With a mutation on Chromosome 1 in gene IRF6 (interferon regulatory factor 6), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Popliteal pterygium syndrome | TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAG... | TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAG... |
Task1_train_2573 | This gene mutation involves IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; IRF6-related condition | TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAG... | TGATGTCTAAATATAGGATATGCCTTCATCTCTCTGGACCATCCTTCTGCCAAGGCTCACTGTGGAAGTTGGTTCAAATGAAGGTAAAGAACCTAGATGTAACATTACATCACAGGCCTAAATAAATGACTGCTTACTTTGCAAGACTTTTTACAAAATATCATCTATTGCTTGCCTTGCTACACAACTCCAGGGGCAAAGCCCAAGTGGCCTTGCTGCCACTTCCTAGAATAAATTTATATTCCTAAAAGTAACTCAAAAGGTTTTTCTAAGAAAGGCTGGAAAGGGCCAGGTATCGTGGCTTACACCCATAATCCCAG... |
Task1_train_2574 | A sequence alteration has been identified in IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Orofacial cleft 6, susceptibility to | TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTC... | TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTC... |
Task1_train_2575 | An alteration has been detected in IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Popliteal pterygium syndrome | TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTC... | TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTC... |
Task1_train_2576 | A mutation found in IRF6 (interferon regulatory factor 6) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Van der Woude syndrome | TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTC... | TGAAGGAGGGCCAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTC... |
Task1_train_2577 | This is a variant in IRF6 (interferon regulatory factor 6), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Orofacial cleft 6, susceptibility to | CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAAT... | CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAAT... |
Task1_train_2578 | Here is a genetic alteration in IRF6 (interferon regulatory factor 6) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Van der Woude syndrome | CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAAT... | CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAAT... |
Task1_train_2579 | Chromosome 1 houses a mutation in gene IRF6 (interferon regulatory factor 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Popliteal pterygium syndrome | CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAAT... | CAGTGGACAGACAAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAAT... |
Task1_train_2580 | This mutation occurs in IRF6 (interferon regulatory factor 6) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Popliteal pterygium syndrome | AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCC... | AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCC... |
Task1_train_2581 | A genomic change on Chromosome 1 affects IRF6 (interferon regulatory factor 6). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Orofacial cleft 6, susceptibility to | AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCC... | AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCC... |
Task1_train_2582 | A change on Chromosome 1 affects gene IRF6 (interferon regulatory factor 6). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Popliteal pterygium syndrome | AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCC... | AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCC... |
Task1_train_2583 | Chromosome 1 houses a mutation in gene IRF6 (interferon regulatory factor 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Van der Woude syndrome | AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCC... | AAGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCC... |
Task1_train_2584 | This variant lies on Chromosome 1 and affects the gene IRF6 (interferon regulatory factor 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Autosomal dominant popliteal pterygium syndrome | AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCA... | AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCA... |
Task1_train_2585 | This variant lies on Chromosome 1 and affects the gene IRF6 (interferon regulatory factor 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Orofacial cleft 6, susceptibility to | AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCA... | AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCA... |
Task1_train_2586 | This genomic variant is located on Chromosome 1, within the IRF6 (interferon regulatory factor 6) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Popliteal pterygium syndrome | AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCA... | AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCA... |
Task1_train_2587 | This mutation occurs in IRF6 (interferon regulatory factor 6) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Van der Woude syndrome | AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCA... | AGTGTCATTTCCTGATTCTCAAAGGTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCA... |
Task1_train_2588 | A change on Chromosome 1 affects gene IRF6 (interferon regulatory factor 6). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Van der Woude syndrome | GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGA... | GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGA... |
Task1_train_2589 | A change on Chromosome 1 affects gene IRF6 (interferon regulatory factor 6). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Orofacial cleft 6, susceptibility to | GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGA... | GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGA... |
Task1_train_2590 | This sequence change occurs on Chromosome 1, altering IRF6 (interferon regulatory factor 6). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Popliteal pterygium syndrome | GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGA... | GTAGAGGCATCACCTACGGTAGAGTACCTGAAAATACTAAATAAATCATCTTGTTATCCTAAGTTTTATAGGTGGCACAAGTTATCTCATTTTGACCCATTGCAGCCAGGTGGTACTAAAAAGACAATGAAAAACTGCTTGGCTGGATGCAAGTCATTTGCGTAGGAGCATTTCAGTGGACAAATGAAGTAAAGATGCTGCAGAAAGAGCAATTCAACGTGTGTTCAAGTATCCTCAGAAAACGCAGTGGGAGATTCAGTACCTGCTCTGTCACACGGTGAATTCTCAAGCTCCCAACTCAATTTTCCTAGGAAGCTGGA... |
Task1_train_2591 | Gene IRF6 (interferon regulatory factor 6) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Van der Woude syndrome 1 | TCCAGTTCTTGATCAGAAAGGGCAGTATAATGGGGGGTGGGATGCAGACAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAA... | TCCAGTTCTTGATCAGAAAGGGCAGTATAATGGGGGGTGGGATGCAGACAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAA... |
Task1_train_2592 | Mutation context: Chromosome 1, Gene IRF6 (interferon regulatory factor 6). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Popliteal pterygium syndrome | CAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAG... | CAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAG... |
Task1_train_2593 | A variant has been detected on Chromosome 1 in IRF6 (interferon regulatory factor 6). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Van der Woude syndrome 1 | CAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAG... | CAGAAAGTCATGGGTTCAAATCCTACCCCCACCACTTACTGGCTGTGTGACTTTGGCAAGTTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAG... |
Task1_train_2594 | This alteration in IRF6 (interferon regulatory factor 6) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Van der Woude syndrome 1 | TTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCA... | TTATTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCA... |
Task1_train_2595 | Consider this mutation in IRF6 (interferon regulatory factor 6) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Popliteal pterygium syndrome | TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGG... | TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGG... |
Task1_train_2596 | This mutation is located in gene IRF6 (interferon regulatory factor 6) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Orofacial cleft 6, susceptibility to | TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGG... | TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGG... |
Task1_train_2597 | Chromosome 1 houses a mutation in gene IRF6 (interferon regulatory factor 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Van der Woude syndrome | TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGG... | TTCAGCCCCTCTAAGACTTGGCTTCTGTATCAACAACATGAAGGTAATACCTCCCTTACAGGGTTGTCACGAGAATTAAAAGAGATAATGGACACAGACACCCATTTAATGTTAGTGCCCCAGCTGCATATTCTGCTAAAGGCCATCAGAGCTTGGTATCTGTGAAAGCACCCTCCCCCTGCACTCTGCAAACAGATGCACAGATATAACTAAAACAAAGCCACCTCCCCACAGCCCAATTTTCCTCAAGCCCCAAGCATGCAAGCCCAAAGCATCACTCTCATGAGTAGGGCTTTCAGGAAATAGCCTCTTCCCCAGGG... |
Task1_train_2598 | Here is a variant affecting SYT14 (synaptotagmin 14) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive spinocerebellar ataxia 11 | AAGGGGAAACATTAACATTTTTTGCTATTAAGTACGATGTTGCATGTTGCTAGATTTGGTTTGCTGATGTATATTTAGGATTTTTTCATCTAGATTCATGAATGAGAAAATCTTGTAATTTTTCTTTTTTATAATGCCCTTATTAGATTTTGGTTTTAATATTTTGCTAAATTCTTAAAGGAAGTTGAGGAGTGGTTTCTCTTTCTCTAATATCTGAAAGAGTTTGTGTAAAACTAGCATTATTAATTAGAATTCACTAGTGAAGCCATCTAGGCCAAAGTTTCTTATTTTTGTTTTGTATGTGTATTTTGGAAAGGCTT... | AAGGGGAAACATTAACATTTTTTGCTATTAAGTACGATGTTGCATGTTGCTAGATTTGGTTTGCTGATGTATATTTAGGATTTTTTCATCTAGATTCATGAATGAGAAAATCTTGTAATTTTTCTTTTTTATAATGCCCTTATTAGATTTTGGTTTTAATATTTTGCTAAATTCTTAAAGGAAGTTGAGGAGTGGTTTCTCTTTCTCTAATATCTGAAAGAGTTTGTGTAAAACTAGCATTATTAATTAGAATTCACTAGTGAAGCCATCTAGGCCAAAGTTTCTTATTTTTGTTTTGTATGTGTATTTTGGAAAGGCTT... |
Task1_train_2599 | This variant affects the gene HHAT (hedgehog acyltransferase) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Chondrodysplasia-pseudohermaphroditism syndrome | GGGCAGTGCCTGCCACTCTCCTGGCTGCAGAGGGTCCCACAGCACCCTGATGATGGAGGAGAGAGAAGCTAAGGAGGTACCTCACGGAATGGGCCTTTATGTCATGAGCCCTGATAGTCAGATGCTAAATCAAGCTCATTTCCTCTACCGGCTAATGTGTGCAGATGCAGCTTGACATTTAGCATTAGTCTGTCCTCTGCATTTCAAGGGAGCTTTCAGTCTCATAAAATCTTGTCATTGTGAGATCCAGAAAACTTACTGTTCTCTCTAGTTTTTCTGTATTTATATTTGTTTAGTGGTATAAGGCTGAACGAAATTGA... | GGGCAGTGCCTGCCACTCTCCTGGCTGCAGAGGGTCCCACAGCACCCTGATGATGGAGGAGAGAGAAGCTAAGGAGGTACCTCACGGAATGGGCCTTTATGTCATGAGCCCTGATAGTCAGATGCTAAATCAAGCTCATTTCCTCTACCGGCTAATGTGTGCAGATGCAGCTTGACATTTAGCATTAGTCTGTCCTCTGCATTTCAAGGGAGCTTTCAGTCTCATAAAATCTTGTCATTGTGAGATCCAGAAAACTTACTGTTCTCTCTAGTTTTTCTGTATTTATATTTGTTTAGTGGTATAAGGCTGAACGAAATTGA... |
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