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 |
|---|---|---|---|---|
Task1_train_24300 | This gene mutation involves KRT14 (keratin 14) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Epidermolysis bullosa simplex | TCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGG... | TCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGG... |
Task1_train_24301 | Here is a variant affecting KRT14 (keratin 14) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | TCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGG... | TCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGG... |
Task1_train_24302 | This alteration in KRT14 (keratin 14) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | CCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGT... | CCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGT... |
Task1_train_24303 | Consider a variant on Chromosome 17 in gene KRT14 (keratin 14). Determine its clinical classification and disease relevance. | Pathogenic; Dermatopathia pigmentosa reticularis | CCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGT... | CCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGT... |
Task1_train_24304 | Given this variant in gene KRT14 (keratin 14) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Epidermolysis bullosa simplex 1A, generalized severe | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTG... | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTG... |
Task1_train_24305 | A mutation found in KRT14 (keratin 14) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Epidermolysis bullosa simplex, Koebner type | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTG... | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTG... |
Task1_train_24306 | This mutation is located in gene KRT14 (keratin 14) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Inborn genetic diseases | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTG... | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTG... |
Task1_train_24307 | Gene KRT14 (keratin 14) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Epidermolysis bullosa simplex | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTG... | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTG... |
Task1_train_24308 | Gene KRT14 (keratin 14) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Epidermolysis bullosa simplex, Koebner type | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTG... | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTG... |
Task1_train_24309 | Here is a variant affecting KRT14 (keratin 14) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Epidermolysis bullosa simplex 1A, generalized severe | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTG... | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTG... |
Task1_train_24310 | A genetic alteration is present in KRT14 (keratin 14) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | ATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCT... | ATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCT... |
Task1_train_24311 | A variant was discovered in gene KRT14 (keratin 14), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | CCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCT... | CCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCT... |
Task1_train_24312 | Here is a mutation in KRT14 (keratin 14) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | GAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAG... | GAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAG... |
Task1_train_24313 | Consider this mutation in KRT14 (keratin 14) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | AAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGC... | AAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGC... |
Task1_train_24314 | A mutation in KRT16 (keratin 16), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | AGAAAAAGCAGGGCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGA... | AGAAAAAGCAGGGCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGA... |
Task1_train_24315 | Consider a variant on Chromosome 17 in gene KRT16 (keratin 16). Determine its clinical classification and disease relevance. | Pathogenic; not provided | GCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGT... | GCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGT... |
Task1_train_24316 | This variant affects the gene KRT16 (keratin 16) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pachyonychia congenita 1 | GCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGT... | GCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGT... |
Task1_train_24317 | Gene KRT16 (keratin 16) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Pachyonychia congenita 1 | GTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCA... | GTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCA... |
Task1_train_24318 | A mutation on Chromosome 17 affecting KRT16 (keratin 16) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pachyonychia congenita 1 | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCAT... | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCAT... |
Task1_train_24319 | A variant found in Chromosome 17 affects KRT16 (keratin 16). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Palmoplantar keratoderma, nonepidermolytic, focal 1 | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCAT... | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCAT... |
Task1_train_24320 | The following genetic variant occurs in KRT16 (keratin 16) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pachyonychia congenita 1 | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCAT... | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCAT... |
Task1_train_24321 | Chromosome 17 houses a mutation in gene KRT16 (keratin 16). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Palmoplantar keratoderma, nonepidermolytic, focal 1 | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCAT... | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCAT... |
Task1_train_24322 | Gene KRT16 (keratin 16) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; KRT16-related disorder | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCAT... | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCAT... |
Task1_train_24323 | A variant was discovered on Chromosome 17, affecting KRT16 (keratin 16). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Pachyonychia congenita 1 | TGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGG... | TGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGG... |
Task1_train_24324 | Here is a variant affecting KRT16 (keratin 16) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Palmoplantar keratoderma, nonepidermolytic, focal 1 | TGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGG... | TGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGG... |
Task1_train_24325 | A mutation on Chromosome 17 affecting KRT16 (keratin 16) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGT... | GTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGT... |
Task1_train_24326 | A change on Chromosome 17 affects gene KRT16 (keratin 16). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Pachyonychia congenita 1 | GCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGG... | GCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGG... |
Task1_train_24327 | This variant affects gene KRT16 (keratin 16) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Pachyonychia congenita 1 | AGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTC... | AGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTC... |
Task1_train_24328 | This mutation is located in gene KRT16 (keratin 16) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | AGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTG... | AGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTG... |
Task1_train_24329 | The variant affects gene KRT17 (keratin 17), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | GAGGTTCCTTGTGTACAGAGAAGCAGTGTGGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCG... | GAGGTTCCTTGTGTACAGAGAAGCAGTGTGGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCG... |
Task1_train_24330 | A genomic change on Chromosome 17 affects KRT17 (keratin 17). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Pachyonychia congenita 2 | AGCAGTGTGGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTC... | AGCAGTGTGGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTC... |
Task1_train_24331 | This variant affects the gene KRT17 (keratin 17) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | GGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCA... | GGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCA... |
Task1_train_24332 | Given this variant in gene KRT17 (keratin 17) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Pachyonychia congenita 2 | CAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCG... | CAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCG... |
Task1_train_24333 | This alteration in KRT17 (keratin 17) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | AGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCT... | AGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCT... |
Task1_train_24334 | A variant has been detected on Chromosome 17 in KRT17 (keratin 17). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Pachyonychia congenita 2 | AGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCT... | AGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCT... |
Task1_train_24335 | Gene KRT17 (keratin 17) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Pachyonychia congenita 2 | CTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCT... | CTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCT... |
Task1_train_24336 | Gene KRT17 (keratin 17), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Steatocystoma multiplex | TGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTC... | TGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTC... |
Task1_train_24337 | A variant affecting Chromosome 17, within the gene KRT17 (keratin 17), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Pachyonychia congenita 2 | TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCT... | TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCT... |
Task1_train_24338 | This alteration in KRT17 (keratin 17) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Abnormality of the skin | TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCT... | TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCT... |
Task1_train_24339 | Given this context: Chromosome 17, gene KRT17 (keratin 17) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Steatocystoma multiplex | TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCT... | TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCT... |
Task1_train_24340 | The gene KRT17 (keratin 17), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Pachyonychia congenita 2 | TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCT... | TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCT... |
Task1_train_24341 | A variant was discovered on Chromosome 17, affecting KRT17 (keratin 17). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | GCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTC... | GCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTC... |
Task1_train_24342 | A variant on Chromosome 17 in gene KRT17 (keratin 17) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Steatocystoma multiplex | GCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTC... | GCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTC... |
Task1_train_24343 | This alteration in KRT17 (keratin 17) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Pachyonychia congenita 2 | CCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGT... | CCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGT... |
Task1_train_24344 | This sequence variant lies in KLHL10 (kelch like family member 10) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Spermatogenic failure 11 | GCCTGTAATCCCAGCTACTCGGGAATCTGAGGCAGGAGAATAACTTGAACTCAGGAGGCGGAGGCTGCAGTGAGCCCAGATCGCACCATTGCACTCCAGCTGGGCGACAGAGAGAGACTTGGTCTCAAATTAACAAAAAAAAAAAAAAAAATCTTAAGTATTGCACACAATTGTTGTCAGTTGGTGCTAATAAGCGTTATTTTACATATTAAGACATACTCAATTACTGAACAATTACCATGGTTTTTCTTGGTCTAATAGTACTGACCACTAACCAAGGAATGGGATTGCTCTCTGGCCACTTGAGGTGCCTTCTATCT... | GCCTGTAATCCCAGCTACTCGGGAATCTGAGGCAGGAGAATAACTTGAACTCAGGAGGCGGAGGCTGCAGTGAGCCCAGATCGCACCATTGCACTCCAGCTGGGCGACAGAGAGAGACTTGGTCTCAAATTAACAAAAAAAAAAAAAAAAATCTTAAGTATTGCACACAATTGTTGTCAGTTGGTGCTAATAAGCGTTATTTTACATATTAAGACATACTCAATTACTGAACAATTACCATGGTTTTTCTTGGTCTAATAGTACTGACCACTAACCAAGGAATGGGATTGCTCTCTGGCCACTTGAGGTGCCTTCTATCT... |
Task1_train_24345 | The gene CNP (2'',3''-cyclic nucleotide 3'' phosphodiesterase) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Myopia 2, autosomal dominant | TGAACAATGGGATACCTGCCTCAGGGGTTGCTGCGAGGACTGAGTGCTTAGCACAGCACTTGGACAGGAAACTCAAAAATCCAACGGAGCTCTCAGTGGTTTCACAGAGGAGGTGGCAGCTGAGGATCTGGCCTCAGAGGATGTTAGGATTTCACTCCGTTACTCATCTGTCCCTTTGGCCATTGCCATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTG... | TGAACAATGGGATACCTGCCTCAGGGGTTGCTGCGAGGACTGAGTGCTTAGCACAGCACTTGGACAGGAAACTCAAAAATCCAACGGAGCTCTCAGTGGTTTCACAGAGGAGGTGGCAGCTGAGGATCTGGCCTCAGAGGATGTTAGGATTTCACTCCGTTACTCATCTGTCCCTTTGGCCATTGCCATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTG... |
Task1_train_24346 | A variant on Chromosome 17 in gene CNP (2'',3''-cyclic nucleotide 3'' phosphodiesterase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Myopia 2, autosomal dominant | TGAACAATGGGATACCTGCCTCAGGGGTTGCTGCGAGGACTGAGTGCTTAGCACAGCACTTGGACAGGAAACTCAAAAATCCAACGGAGCTCTCAGTGGTTTCACAGAGGAGGTGGCAGCTGAGGATCTGGCCTCAGAGGATGTTAGGATTTCACTCCGTTACTCATCTGTCCCTTTGGCCATTGCCATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTG... | TGAACAATGGGATACCTGCCTCAGGGGTTGCTGCGAGGACTGAGTGCTTAGCACAGCACTTGGACAGGAAACTCAAAAATCCAACGGAGCTCTCAGTGGTTTCACAGAGGAGGTGGCAGCTGAGGATCTGGCCTCAGAGGATGTTAGGATTTCACTCCGTTACTCATCTGTCCCTTTGGCCATTGCCATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTG... |
Task1_train_24347 | Consider this mutation in CNP (2'',3''-cyclic nucleotide 3'' phosphodiesterase) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Leukodystrophy, hypomyelinating, 20 | CATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTGCATGATAATATTTTAATCCAATGTGGTAAAAAAAAAAGTTTTTAATTAATGCAAAAGTCCATGATGAATAAAATATCAAAAATTAAAGACAGGATCCGACTTTGCACGACCCTGCCTCACTCACTTCCTGCTAATCCACGGGACCGGGGAGGGTGACTGAGTTACCCCTCAACACGCAGAAAAAGC... | CATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTGCATGATAATATTTTAATCCAATGTGGTAAAAAAAAAAGTTTTTAATTAATGCAAAAGTCCATGATGAATAAAATATCAAAAATTAAAGACAGGATCCGACTTTGCACGACCCTGCCTCACTCACTTCCTGCTAATCCACGGGACCGGGGAGGGTGACTGAGTTACCCCTCAACACGCAGAAAAAGC... |
Task1_train_24348 | Located on Chromosome 17, this mutation impacts CNP (2'',3''-cyclic nucleotide 3'' phosphodiesterase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Myopia 2, autosomal dominant | CACCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAACCACCGCACCTGGCCTGAGAATTTTAACTTTTTATTGCTCTAAAGTTGCCATTAGTTTGACCAACTAACCAATGAATGAGCTGTAGTGGGTTGCTGGAGAGGTGATGCTTAGTGTCCGAGTGTTTTGCGCTGGGCCTCGGTGGTCCTGGTGGCGGATGTTGGTATGCCCCTGCTCCCCTGCCCTGACTGCACCCGTTTTCTCCCGGCAGTCGTCCCTGGGGATGAGCCCAGGGAGAAGATGGACTTGGTCACCTACTTTGGAAAGAGACCCCCAGGCGTGC... | CACCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAACCACCGCACCTGGCCTGAGAATTTTAACTTTTTATTGCTCTAAAGTTGCCATTAGTTTGACCAACTAACCAATGAATGAGCTGTAGTGGGTTGCTGGAGAGGTGATGCTTAGTGTCCGAGTGTTTTGCGCTGGGCCTCGGTGGTCCTGGTGGCGGATGTTGGTATGCCCCTGCTCCCCTGCCCTGACTGCACCCGTTTTCTCCCGGCAGTCGTCCCTGGGGATGAGCCCAGGGAGAAGATGGACTTGGTCACCTACTTTGGAAAGAGACCCCCAGGCGTGC... |
Task1_train_24349 | Here is a mutation in HCRT (hypocretin neuropeptide precursor) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Narcolepsy 1 | CTCAGCCTCCTTAGTAGCTGGGATCACAGGCGTGCATTACAATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGAGCCTAGCCTGTGTCTCTACTTTTGGATGTTATATTAGTTTCCTAGGACTGCCATAACAAAGTACCACAAAGTGAGTGGCTCAAACAACAGAAACCTATTGTCTCACAGTTCTGGATGCTAGAAGTCCAAGCAAGGTCAGGTG... | CTCAGCCTCCTTAGTAGCTGGGATCACAGGCGTGCATTACAATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGAGCCTAGCCTGTGTCTCTACTTTTGGATGTTATATTAGTTTCCTAGGACTGCCATAACAAAGTACCACAAAGTGAGTGGCTCAAACAACAGAAACCTATTGTCTCACAGTTCTGGATGCTAGAAGTCCAAGCAAGGTCAGGTG... |
Task1_train_24350 | A change on Chromosome 17 affects gene STAT5B (signal transducer and activator of transcription 5B). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | CTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGAAATAGTTTTAAAAGCCATGGGTAGGGGCCAGGCATGTTGGCTCATGCCTGTAATCCCACACTTTTGGAGGCCTAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGATGAACCCTGTCTCTACTAAAAATACAAAAATCAGCCAAGTGTGGTGGCACTCATCCGTAGTCCCAGGTACTATGCTGAGGTAGGAGAATGGCTTGAAGCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGACACTGC... | CTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGAAATAGTTTTAAAAGCCATGGGTAGGGGCCAGGCATGTTGGCTCATGCCTGTAATCCCACACTTTTGGAGGCCTAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGATGAACCCTGTCTCTACTAAAAATACAAAAATCAGCCAAGTGTGGTGGCACTCATCCGTAGTCCCAGGTACTATGCTGAGGTAGGAGAATGGCTTGAAGCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGACACTGC... |
Task1_train_24351 | Assess the clinical impact of this variant on gene STAT5B (signal transducer and activator of transcription 5B), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | GGTGGCATGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAAT... | GGTGGCATGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAAT... |
Task1_train_24352 | The gene STAT5B (signal transducer and activator of transcription 5B) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | GGTGGCATGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAAT... | GGTGGCATGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAAT... |
Task1_train_24353 | A mutation found in STAT5B (signal transducer and activator of transcription 5B) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | CTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAG... | CTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAG... |
Task1_train_24354 | Mutation context: Chromosome 17, Gene STAT5B (signal transducer and activator of transcription 5B). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | CTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAG... | CTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAG... |
Task1_train_24355 | A variant was discovered on Chromosome 17, affecting STAT5B (signal transducer and activator of transcription 5B). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | GCTTTTGGGAAGGAGGCCAGGGAGACGGGAAGCAATTTCCCTACTCCACTGGAGGCAGCTGAGCCTTCCCTGGCAAAAGCAGATCAATAGTCTGTGTTTCTGCTGAGTGAACTTGACAAATGGGACTGAGAAGACACTGCGTGATAGATCCAAACCCAACCTGAATCCAAACCTAATCCGCCACCATGCACAGGAAACAGAAAAGCCAGGCACGGGATCAGAAATACTGTTGACAGTCTAAGGACTTGGGTAGGAATAGCCATCCCAAATCTTCCGTTTCCATTCTCTGAAGGAGCTGCCCTTCTTCTAGGGCCAGTCTA... | GCTTTTGGGAAGGAGGCCAGGGAGACGGGAAGCAATTTCCCTACTCCACTGGAGGCAGCTGAGCCTTCCCTGGCAAAAGCAGATCAATAGTCTGTGTTTCTGCTGAGTGAACTTGACAAATGGGACTGAGAAGACACTGCGTGATAGATCCAAACCCAACCTGAATCCAAACCTAATCCGCCACCATGCACAGGAAACAGAAAAGCCAGGCACGGGATCAGAAATACTGTTGACAGTCTAAGGACTTGGGTAGGAATAGCCATCCCAAATCTTCCGTTTCCATTCTCTGAAGGAGCTGCCCTTCTTCTAGGGCCAGTCTA... |
Task1_train_24356 | This sequence variant lies in STAT5B (signal transducer and activator of transcription 5B) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | GCTTTTGGGAAGGAGGCCAGGGAGACGGGAAGCAATTTCCCTACTCCACTGGAGGCAGCTGAGCCTTCCCTGGCAAAAGCAGATCAATAGTCTGTGTTTCTGCTGAGTGAACTTGACAAATGGGACTGAGAAGACACTGCGTGATAGATCCAAACCCAACCTGAATCCAAACCTAATCCGCCACCATGCACAGGAAACAGAAAAGCCAGGCACGGGATCAGAAATACTGTTGACAGTCTAAGGACTTGGGTAGGAATAGCCATCCCAAATCTTCCGTTTCCATTCTCTGAAGGAGCTGCCCTTCTTCTAGGGCCAGTCTA... | GCTTTTGGGAAGGAGGCCAGGGAGACGGGAAGCAATTTCCCTACTCCACTGGAGGCAGCTGAGCCTTCCCTGGCAAAAGCAGATCAATAGTCTGTGTTTCTGCTGAGTGAACTTGACAAATGGGACTGAGAAGACACTGCGTGATAGATCCAAACCCAACCTGAATCCAAACCTAATCCGCCACCATGCACAGGAAACAGAAAAGCCAGGCACGGGATCAGAAATACTGTTGACAGTCTAAGGACTTGGGTAGGAATAGCCATCCCAAATCTTCCGTTTCCATTCTCTGAAGGAGCTGCCCTTCTTCTAGGGCCAGTCTA... |
Task1_train_24357 | Gene STAT3 (signal transducer and activator of transcription 3), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAA... | CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAA... |
Task1_train_24358 | Here is a variant affecting STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; STAT3 gain of function | CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAA... | CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAA... |
Task1_train_24359 | Chromosome 17 houses a mutation in gene STAT3 (signal transducer and activator of transcription 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAA... | CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAA... |
Task1_train_24360 | With a mutation on Chromosome 17 in gene STAT3 (signal transducer and activator of transcription 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGAC... | TGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGAC... |
Task1_train_24361 | Chromosome 17 houses a mutation in gene STAT3 (signal transducer and activator of transcription 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; STAT3 gain of function | TGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGAC... | TGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGAC... |
Task1_train_24362 | A variant has been detected on Chromosome 17 in STAT3 (signal transducer and activator of transcription 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | GTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCAC... | GTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCAC... |
Task1_train_24363 | This variant lies on Chromosome 17 and affects the gene STAT3 (signal transducer and activator of transcription 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; STAT3 gain of function | GTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCAC... | GTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCAC... |
Task1_train_24364 | This variant affects the gene STAT3 (signal transducer and activator of transcription 3) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | ATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCA... | ATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCA... |
Task1_train_24365 | This variant lies on Chromosome 17 and affects the gene STAT3 (signal transducer and activator of transcription 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | TGTGCTATTTGGACAAAAATAGTTTTTTCAACAGCAACTAGGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAG... | TGTGCTATTTGGACAAAAATAGTTTTTTCAACAGCAACTAGGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAG... |
Task1_train_24366 | Given this context: Chromosome 17, gene STAT3 (signal transducer and activator of transcription 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | ACTAGGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCA... | ACTAGGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCA... |
Task1_train_24367 | This variant affects gene STAT3 (signal transducer and activator of transcription 3) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; STAT3 gain of function | GGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGAC... | GGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGAC... |
Task1_train_24368 | This variant affects gene STAT3 (signal transducer and activator of transcription 3) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | GGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGAC... | GGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGAC... |
Task1_train_24369 | A variant found in Chromosome 17 affects STAT3 (signal transducer and activator of transcription 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAA... | AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAA... |
Task1_train_24370 | A mutation on Chromosome 17 affecting STAT3 (signal transducer and activator of transcription 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; STAT3 gain of function | AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAA... | AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAA... |
Task1_train_24371 | This variant lies on Chromosome 17 and affects the gene STAT3 (signal transducer and activator of transcription 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAA... | AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAA... |
Task1_train_24372 | This mutation is located in gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; STAT3 gain of function | AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAA... | AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAA... |
Task1_train_24373 | The variant affects gene STAT3 (signal transducer and activator of transcription 3), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAA... | TCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAA... |
Task1_train_24374 | This mutation occurs in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAA... | CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAA... |
Task1_train_24375 | This variant impacts the gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; STAT3 gain of function | CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAA... | CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAA... |
Task1_train_24376 | A variant was discovered on Chromosome 17, affecting STAT3 (signal transducer and activator of transcription 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAA... | CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAA... |
Task1_train_24377 | Consider a variant on Chromosome 17 in gene STAT3 (signal transducer and activator of transcription 3). Determine its clinical classification and disease relevance. | Pathogenic; Hyper-IgE syndrome | CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAA... | CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAA... |
Task1_train_24378 | Located on Chromosome 17, this mutation impacts STAT3 (signal transducer and activator of transcription 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; STAT3 gain of function | CATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAA... | CATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAA... |
Task1_train_24379 | The following genetic variant occurs in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | CATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAA... | CATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAA... |
Task1_train_24380 | Here is a variant affecting STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; STAT3 gain of function | GTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAAT... | GTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAAT... |
Task1_train_24381 | Gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | GTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAAT... | GTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAAT... |
Task1_train_24382 | The variant affects gene STAT3 (signal transducer and activator of transcription 3), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | CTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTT... | CTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTT... |
Task1_train_24383 | A genomic change on Chromosome 17 affects STAT3 (signal transducer and activator of transcription 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; STAT3 gain of function | CTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTT... | CTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTT... |
Task1_train_24384 | A mutation in STAT3 (signal transducer and activator of transcription 3), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTT... | TATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTT... |
Task1_train_24385 | Gene STAT3 (signal transducer and activator of transcription 3), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATA... | TGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATA... |
Task1_train_24386 | A mutation found in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCAC... | TTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCAC... |
Task1_train_24387 | A mutation found in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; STAT3 gain of function | TTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCAC... | TTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCAC... |
Task1_train_24388 | The following genetic variant occurs in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | GGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCA... | GGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCA... |
Task1_train_24389 | This variant impacts the gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTC... | TATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTC... |
Task1_train_24390 | Consider this mutation in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; STAT3 gain of function | TATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTC... | TATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTC... |
Task1_train_24391 | This variant lies on Chromosome 17 and affects the gene STAT3 (signal transducer and activator of transcription 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; STAT3 gain of function | AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACA... | AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACA... |
Task1_train_24392 | This sequence variant lies in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACA... | AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACA... |
Task1_train_24393 | The gene STAT3 (signal transducer and activator of transcription 3), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACA... | AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACA... |
Task1_train_24394 | A variant was discovered in gene STAT3 (signal transducer and activator of transcription 3), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACA... | AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACA... |
Task1_train_24395 | Given a variant located on Chromosome 17 and affecting STAT3 (signal transducer and activator of transcription 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | CTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCA... | CTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCA... |
Task1_train_24396 | The gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACG... | TGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACG... |
Task1_train_24397 | A variant found in Chromosome 17 affects STAT3 (signal transducer and activator of transcription 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; STAT3 gain of function | TGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACG... | TGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACG... |
Task1_train_24398 | This variant lies on Chromosome 17 and affects the gene STAT3 (signal transducer and activator of transcription 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | CCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACT... | CCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACT... |
Task1_train_24399 | An alteration has been detected in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCA... | ATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCA... |
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