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_26900 | With a mutation on Chromosome 19 in gene GTPBP3 (GTP binding protein 3, mitochondrial), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Combined oxidative phosphorylation defect type 23 | AGGGCGTGGGGCCCGTGGAGCAGGAGGGCGTGCGGCGCGCCCGGGAGAGGTGGGCGGACAGGGTGGTGATGGGAGGGGAACGCGGGGCCCTTTCTCTGCCTTTTCTCCCTGTTGCGTTTATTTTTCATTCTTCCTGAATCAGAGAACCTGCTAAGCCCTATCAAGCATGGATCTCAGGGATTTGGTTCTTTTTTTTTTTTTTTTTTTTTACTCCGAGACCGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGTATCTCAGCTCACTGCAAGCTCTGTCTTCCGGGTTCAAGCAAGTCTCCTGCCTCAGCCTCC... | AGGGCGTGGGGCCCGTGGAGCAGGAGGGCGTGCGGCGCGCCCGGGAGAGGTGGGCGGACAGGGTGGTGATGGGAGGGGAACGCGGGGCCCTTTCTCTGCCTTTTCTCCCTGTTGCGTTTATTTTTCATTCTTCCTGAATCAGAGAACCTGCTAAGCCCTATCAAGCATGGATCTCAGGGATTTGGTTCTTTTTTTTTTTTTTTTTTTTTACTCCGAGACCGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGTATCTCAGCTCACTGCAAGCTCTGTCTTCCGGGTTCAAGCAAGTCTCCTGCCTCAGCCTCC... |
Task1_train_26901 | A variant affecting Chromosome 19, within the gene PLVAP (plasmalemma vesicle associated protein), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Diarrhea 10, protein-losing enteropathy type | TACAGACAGGGTTTCACCATGTTGCCCAGGTTGGTCTCAAATTCCTGGACTCAGGTGGTCCTCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTGTAGCCGGTCTTCAGCCACTTATTTGCAGCTTGTGTGTGCTGGACCCCTTTGATTAGTGCTGGCACATTCTGGGAGCTTCATGCATAGTAAGTTATGGGCTCAGGACTGCCAATTAACACACAGGAGGAGAATTAAACTTGGATTCCAAAAAGACAATGAATATTATTTTCAAAATTATATCTCAAATATTGCATGGAATATACTTACAGTT... | TACAGACAGGGTTTCACCATGTTGCCCAGGTTGGTCTCAAATTCCTGGACTCAGGTGGTCCTCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTGTAGCCGGTCTTCAGCCACTTATTTGCAGCTTGTGTGTGCTGGACCCCTTTGATTAGTGCTGGCACATTCTGGGAGCTTCATGCATAGTAAGTTATGGGCTCAGGACTGCCAATTAACACACAGGAGGAGAATTAAACTTGGATTCCAAAAAGACAATGAATATTATTTTCAAAATTATATCTCAAATATTGCATGGAATATACTTACAGTT... |
Task1_train_26902 | This variant affects the gene COLGALT1 (collagen beta(1-O)galactosyltransferase 1) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Brain small vessel disease 3 | TATACATTACAAAAATTGCCGTGTGCGGTGGCTCATTCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGGACCTGGTAGGCGGAGATTGCAGTGAACCAAGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAATTAAGTG... | TATACATTACAAAAATTGCCGTGTGCGGTGGCTCATTCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGGACCTGGTAGGCGGAGATTGCAGTGAACCAAGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAATTAAGTG... |
Task1_train_26903 | A variant affecting Chromosome 19, within the gene COLGALT1 (collagen beta(1-O)galactosyltransferase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Brain small vessel disease 3 | ACAAAAATTGCCGTGTGCGGTGGCTCATTCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGGACCTGGTAGGCGGAGATTGCAGTGAACCAAGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAATTAAGTGACACATAT... | ACAAAAATTGCCGTGTGCGGTGGCTCATTCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGGACCTGGTAGGCGGAGATTGCAGTGAACCAAGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAAAAAATTAAGTGACACATAT... |
Task1_train_26904 | Here is a genetic alteration in COLGALT1 (collagen beta(1-O)galactosyltransferase 1) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Brain small vessel disease 3 | TTTTGTATTTTTATTGGAGATGGGGTTTCACTGTGTTAACCTGGATGGCCTCGATCTCCTGACCTTGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCTAGTTTTTTGTATTTTTAGTGGGGACAGGGTTTCAGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGTGCCCGGCCTTCTTTTTTGCTTTTTTTGGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTG... | TTTTGTATTTTTATTGGAGATGGGGTTTCACTGTGTTAACCTGGATGGCCTCGATCTCCTGACCTTGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCTAGTTTTTTGTATTTTTAGTGGGGACAGGGTTTCAGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGTGCCCGGCCTTCTTTTTTGCTTTTTTTGGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTG... |
Task1_train_26905 | This sequence change occurs on Chromosome 19, altering FCHO1 (FCH and mu domain containing endocytic adaptor 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Immunodeficiency 76 | ATTACAGGCACCTGCCACCATGCTTGGCTAATTTTGCATTTTTAGTAAACACGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAACTCAAGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCGCCTAACCTCCCTGCCCCATCTTAATGAGGAGCTCCTAAAAGCTCAGAGGGGGCAGTGACTTGCCTGGGTCACACAGTGCAGCCCTGGCCTCCCCCACCATGACAACCCCAGAAATTGGAGTAAAGAGATTTTGTGAAGGCATTCGCAGGCACCAGGGTAGAAAT... | ATTACAGGCACCTGCCACCATGCTTGGCTAATTTTGCATTTTTAGTAAACACGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAACTCAAGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCGCCTAACCTCCCTGCCCCATCTTAATGAGGAGCTCCTAAAAGCTCAGAGGGGGCAGTGACTTGCCTGGGTCACACAGTGCAGCCCTGGCCTCCCCCACCATGACAACCCCAGAAATTGGAGTAAAGAGATTTTGTGAAGGCATTCGCAGGCACCAGGGTAGAAAT... |
Task1_train_26906 | This mutation occurs in FCHO1 (FCH and mu domain containing endocytic adaptor 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Severe congenital neutropenia | ATTACAGGCACCTGCCACCATGCTTGGCTAATTTTGCATTTTTAGTAAACACGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAACTCAAGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCGCCTAACCTCCCTGCCCCATCTTAATGAGGAGCTCCTAAAAGCTCAGAGGGGGCAGTGACTTGCCTGGGTCACACAGTGCAGCCCTGGCCTCCCCCACCATGACAACCCCAGAAATTGGAGTAAAGAGATTTTGTGAAGGCATTCGCAGGCACCAGGGTAGAAAT... | ATTACAGGCACCTGCCACCATGCTTGGCTAATTTTGCATTTTTAGTAAACACGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAACTCAAGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCGCCTAACCTCCCTGCCCCATCTTAATGAGGAGCTCCTAAAAGCTCAGAGGGGGCAGTGACTTGCCTGGGTCACACAGTGCAGCCCTGGCCTCCCCCACCATGACAACCCCAGAAATTGGAGTAAAGAGATTTTGTGAAGGCATTCGCAGGCACCAGGGTAGAAAT... |
Task1_train_26907 | Given this context: Chromosome 19, gene FCHO1 (FCH and mu domain containing endocytic adaptor 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Immunodeficiency 76 | GCAGTCCTGTCTGGCACCTTTTCTGCAACACCAGGACTTCAGACCCATTGGGGGTCTCTGCAGAAAAGCCCACCTCCTAAGATTTTGGCTGAGTTTGTGCCCCTGGGGAGGCCCCAGAGGCCCCGGGCAGCATCTCAGCAGTGCCTCTTTGTACTCGCTCCTAGACCTGATGCCTGCACCTGCTGACCCCACAGCCAGGGAGGGCCTGGCAGCCCCACCCAGGAGACTTCGCTCTAGGAAGGTGTCCTGCCCTCTCACACGTAGCAATGGGGACCTGGTAGGTGAGGGGGCGTGGCAGGAGCTGGACTGGGGGTCGCGTC... | GCAGTCCTGTCTGGCACCTTTTCTGCAACACCAGGACTTCAGACCCATTGGGGGTCTCTGCAGAAAAGCCCACCTCCTAAGATTTTGGCTGAGTTTGTGCCCCTGGGGAGGCCCCAGAGGCCCCGGGCAGCATCTCAGCAGTGCCTCTTTGTACTCGCTCCTAGACCTGATGCCTGCACCTGCTGACCCCACAGCCAGGGAGGGCCTGGCAGCCCCACCCAGGAGACTTCGCTCTAGGAAGGTGTCCTGCCCTCTCACACGTAGCAATGGGGACCTGGTAGGTGAGGGGGCGTGGCAGGAGCTGGACTGGGGGTCGCGTC... |
Task1_train_26908 | Here is a variant affecting FCHO1 (FCH and mu domain containing endocytic adaptor 1) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Severe congenital neutropenia | GCAGTCCTGTCTGGCACCTTTTCTGCAACACCAGGACTTCAGACCCATTGGGGGTCTCTGCAGAAAAGCCCACCTCCTAAGATTTTGGCTGAGTTTGTGCCCCTGGGGAGGCCCCAGAGGCCCCGGGCAGCATCTCAGCAGTGCCTCTTTGTACTCGCTCCTAGACCTGATGCCTGCACCTGCTGACCCCACAGCCAGGGAGGGCCTGGCAGCCCCACCCAGGAGACTTCGCTCTAGGAAGGTGTCCTGCCCTCTCACACGTAGCAATGGGGACCTGGTAGGTGAGGGGGCGTGGCAGGAGCTGGACTGGGGGTCGCGTC... | GCAGTCCTGTCTGGCACCTTTTCTGCAACACCAGGACTTCAGACCCATTGGGGGTCTCTGCAGAAAAGCCCACCTCCTAAGATTTTGGCTGAGTTTGTGCCCCTGGGGAGGCCCCAGAGGCCCCGGGCAGCATCTCAGCAGTGCCTCTTTGTACTCGCTCCTAGACCTGATGCCTGCACCTGCTGACCCCACAGCCAGGGAGGGCCTGGCAGCCCCACCCAGGAGACTTCGCTCTAGGAAGGTGTCCTGCCCTCTCACACGTAGCAATGGGGACCTGGTAGGTGAGGGGGCGTGGCAGGAGCTGGACTGGGGGTCGCGTC... |
Task1_train_26909 | A variant was discovered on Chromosome 19, affecting INSL3 (insulin like 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cryptorchidism | GACCATGCCACTGCACTCCAGCCTGGGTGAGAGGGAGACCTTGTTTCAAAAATAAAATGAGGCTGGGCATGGTGGCTCACGATTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTCAGGAGACCAAGACCAGCCTAGACAAGGCGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCAGAGTGTGGTGGCATATGCCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGCGA... | GACCATGCCACTGCACTCCAGCCTGGGTGAGAGGGAGACCTTGTTTCAAAAATAAAATGAGGCTGGGCATGGTGGCTCACGATTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTCAGGAGACCAAGACCAGCCTAGACAAGGCGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCAGAGTGTGGTGGCATATGCCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGCGA... |
Task1_train_26910 | This sequence change occurs on Chromosome 19, altering INSL3 (insulin like 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cryptorchidism | GTGAGAGGGAGACCTTGTTTCAAAAATAAAATGAGGCTGGGCATGGTGGCTCACGATTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTCAGGAGACCAAGACCAGCCTAGACAAGGCGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCAGAGTGTGGTGGCATATGCCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGAATCTATCTCAAAAAAA... | GTGAGAGGGAGACCTTGTTTCAAAAATAAAATGAGGCTGGGCATGGTGGCTCACGATTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTCAGGAGACCAAGACCAGCCTAGACAAGGCGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCAGAGTGTGGTGGCATATGCCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGAATCTATCTCAAAAAAA... |
Task1_train_26911 | The variant affects gene INSL3 (insulin like 3), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Cryptorchidism | TAAAATGAGGCTGGGCATGGTGGCTCACGATTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTCAGGAGACCAAGACCAGCCTAGACAAGGCGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCAGAGTGTGGTGGCATATGCCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGAATCTATCTCAAAAAAAAGAAAAAAAAAAATAGGCCAGCCGTG... | TAAAATGAGGCTGGGCATGGTGGCTCACGATTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTCAGGAGACCAAGACCAGCCTAGACAAGGCGAAACCCCGTCTCCACTAAAAATACAAAAATTAGCAGAGTGTGGTGGCATATGCCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGAATCTATCTCAAAAAAAAGAAAAAAAAAAATAGGCCAGCCGTG... |
Task1_train_26912 | Here is a variant affecting JAK3 (Janus kinase 3) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; T-B+ severe combined immunodeficiency due to JAK3 deficiency | GCCATAGCTGACACCACGATACTTGACAATGAAATCACTGTGCAGTGCTTTGAGGATCTGAATCTCCCGCTGAAAGTCCCTCTGCTGGTCTGGCCCGCTGTGCTGCAGCTGTTTCACGGCCACCAGGGCACCTGTATTGTCGCCTAGCGGGTCATAGCGGCACAGCTCCACGCTGCCAAAGTTGCCCTGGGGGATAGCGGGACTGATGTCCAGGCACCTGGATGCTGCCCTGCCCTCTCCAACCCACCCTGGCCCTGCCCACCTTACCTTGCCCAGCTGTGAGATGTACTTGAGGTGTCTCTCCTCGAAGATCGTGGGGT... | GCCATAGCTGACACCACGATACTTGACAATGAAATCACTGTGCAGTGCTTTGAGGATCTGAATCTCCCGCTGAAAGTCCCTCTGCTGGTCTGGCCCGCTGTGCTGCAGCTGTTTCACGGCCACCAGGGCACCTGTATTGTCGCCTAGCGGGTCATAGCGGCACAGCTCCACGCTGCCAAAGTTGCCCTGGGGGATAGCGGGACTGATGTCCAGGCACCTGGATGCTGCCCTGCCCTCTCCAACCCACCCTGGCCCTGCCCACCTTACCTTGCCCAGCTGTGAGATGTACTTGAGGTGTCTCTCCTCGAAGATCGTGGGGT... |
Task1_train_26913 | The gene JAK3 (Janus kinase 3) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Severe combined immunodeficiency disease | GGGGCTGACCCCAGGGTCACTCAGCTTGATGAAGGGCGGGCTCCCATCAGCCCCCTCCCGAGCCAGGAGCACCTTCCGGGCAGAGACATTGCCATGGGGCAGGCCTTTGTCCTCCTAAGGGGGCCAGACACAGGAAAATGCCCGGGAGGGTTTGATGAATGAAGAGTCTGTTTGGCAAACTCCTATACATCCTTCAAAACCCACTTGGTACTGCTCAGACATGCTCCAGCATCGTCCCTGACTCCTGACATCCTGTCTTGCCCCTCTAGTTCACCCCCTACACTGACCTGGCTATGTCCCTCCCCTTCTCAAACACCACC... | GGGGCTGACCCCAGGGTCACTCAGCTTGATGAAGGGCGGGCTCCCATCAGCCCCCTCCCGAGCCAGGAGCACCTTCCGGGCAGAGACATTGCCATGGGGCAGGCCTTTGTCCTCCTAAGGGGGCCAGACACAGGAAAATGCCCGGGAGGGTTTGATGAATGAAGAGTCTGTTTGGCAAACTCCTATACATCCTTCAAAACCCACTTGGTACTGCTCAGACATGCTCCAGCATCGTCCCTGACTCCTGACATCCTGTCTTGCCCCTCTAGTTCACCCCCTACACTGACCTGGCTATGTCCCTCCCCTTCTCAAACACCACC... |
Task1_train_26914 | Assess the clinical impact of this variant on gene JAK3 (Janus kinase 3), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; T-B+ severe combined immunodeficiency due to JAK3 deficiency | GGGGCTGACCCCAGGGTCACTCAGCTTGATGAAGGGCGGGCTCCCATCAGCCCCCTCCCGAGCCAGGAGCACCTTCCGGGCAGAGACATTGCCATGGGGCAGGCCTTTGTCCTCCTAAGGGGGCCAGACACAGGAAAATGCCCGGGAGGGTTTGATGAATGAAGAGTCTGTTTGGCAAACTCCTATACATCCTTCAAAACCCACTTGGTACTGCTCAGACATGCTCCAGCATCGTCCCTGACTCCTGACATCCTGTCTTGCCCCTCTAGTTCACCCCCTACACTGACCTGGCTATGTCCCTCCCCTTCTCAAACACCACC... | GGGGCTGACCCCAGGGTCACTCAGCTTGATGAAGGGCGGGCTCCCATCAGCCCCCTCCCGAGCCAGGAGCACCTTCCGGGCAGAGACATTGCCATGGGGCAGGCCTTTGTCCTCCTAAGGGGGCCAGACACAGGAAAATGCCCGGGAGGGTTTGATGAATGAAGAGTCTGTTTGGCAAACTCCTATACATCCTTCAAAACCCACTTGGTACTGCTCAGACATGCTCCAGCATCGTCCCTGACTCCTGACATCCTGTCTTGCCCCTCTAGTTCACCCCCTACACTGACCTGGCTATGTCCCTCCCCTTCTCAAACACCACC... |
Task1_train_26915 | Mutation context: Chromosome 19, Gene JAK3 (Janus kinase 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Adenoid cystic carcinoma | GGGGCTGACCCCAGGGTCACTCAGCTTGATGAAGGGCGGGCTCCCATCAGCCCCCTCCCGAGCCAGGAGCACCTTCCGGGCAGAGACATTGCCATGGGGCAGGCCTTTGTCCTCCTAAGGGGGCCAGACACAGGAAAATGCCCGGGAGGGTTTGATGAATGAAGAGTCTGTTTGGCAAACTCCTATACATCCTTCAAAACCCACTTGGTACTGCTCAGACATGCTCCAGCATCGTCCCTGACTCCTGACATCCTGTCTTGCCCCTCTAGTTCACCCCCTACACTGACCTGGCTATGTCCCTCCCCTTCTCAAACACCACC... | GGGGCTGACCCCAGGGTCACTCAGCTTGATGAAGGGCGGGCTCCCATCAGCCCCCTCCCGAGCCAGGAGCACCTTCCGGGCAGAGACATTGCCATGGGGCAGGCCTTTGTCCTCCTAAGGGGGCCAGACACAGGAAAATGCCCGGGAGGGTTTGATGAATGAAGAGTCTGTTTGGCAAACTCCTATACATCCTTCAAAACCCACTTGGTACTGCTCAGACATGCTCCAGCATCGTCCCTGACTCCTGACATCCTGTCTTGCCCCTCTAGTTCACCCCCTACACTGACCTGGCTATGTCCCTCCCCTTCTCAAACACCACC... |
Task1_train_26916 | A mutation on Chromosome 19 affecting JAK3 (Janus kinase 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; T-B+ severe combined immunodeficiency due to JAK3 deficiency | CAGGAGATCAACACCATCCTGGCTAACACCGTGAAACCCCGTCGCTACTGAAAATACAAAAAAATAGCCGGGCGTGGTGGCGAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGACCCTGGGAAGCAGAGGTTGCATTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAAAGAAAAAAGAAAATCAGCCGTAAGTCTTGGCCTCTTCTGGGAGATTGTTTGTTTGTTTGTTTGTTTTAATAGAGACAGGGTCTTGCTTGGTTGCCCAG... | CAGGAGATCAACACCATCCTGGCTAACACCGTGAAACCCCGTCGCTACTGAAAATACAAAAAAATAGCCGGGCGTGGTGGCGAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGACCCTGGGAAGCAGAGGTTGCATTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAAAGAAAAAAGAAAATCAGCCGTAAGTCTTGGCCTCTTCTGGGAGATTGTTTGTTTGTTTGTTTGTTTTAATAGAGACAGGGTCTTGCTTGGTTGCCCAG... |
Task1_train_26917 | This variant affects gene JAK3 (Janus kinase 3) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; T-B+ severe combined immunodeficiency due to JAK3 deficiency | AACTCCTGAGTTCAAACAATCCTCCTGCCTTGGCCCCTCAAAGCGCTGCGATTGCAGGTGTGCCCCACTATGCCTGGCCCTTCCTGGGAGATTAAACAAGAGGCTGTAGGTGAAGGTGGGCGACTTGTCCATCTCCAGGAAATGGCCCTGGGGTCAGAGAGAGAGAGAGTAGTGGTCGCCCTGTGAAGCAGAAGGAATACTTCAGCTTCACTGAGCGCTGACTGTGCGGCAGGTGTGGTTTGAAAACTTGACCCCTGTCCAGGGCTCCTGGAAGGTGAGGACACTGAGGCATAGAGAAGGGGAGGGGCCCTGAGTGGCCA... | AACTCCTGAGTTCAAACAATCCTCCTGCCTTGGCCCCTCAAAGCGCTGCGATTGCAGGTGTGCCCCACTATGCCTGGCCCTTCCTGGGAGATTAAACAAGAGGCTGTAGGTGAAGGTGGGCGACTTGTCCATCTCCAGGAAATGGCCCTGGGGTCAGAGAGAGAGAGAGTAGTGGTCGCCCTGTGAAGCAGAAGGAATACTTCAGCTTCACTGAGCGCTGACTGTGCGGCAGGTGTGGTTTGAAAACTTGACCCCTGTCCAGGGCTCCTGGAAGGTGAGGACACTGAGGCATAGAGAAGGGGAGGGGCCCTGAGTGGCCA... |
Task1_train_26918 | An alteration has been detected in JAK3 (Janus kinase 3) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; T-B+ severe combined immunodeficiency due to JAK3 deficiency | GAAAGTCGCAGAAGGGCTGGAGGACCTGGGAAGGAGGGGGAGTACCGAAGTGGGGGCCCAGCTGGACCCCGCCAAACCACGCCCATGAACCCACCCCCAAGCCACACCATCCACTCCCTATCCCTTTGCCATTCAACCCTTCCAAGCCGCGCCCCCTCCTATCAACTCCAACCTCTCAACACCTCCCCTACCCATCCCCAAACATCTCCCACCCGCTCTGCCAATCCCCGCCTCCTTCTCTCTGCCGGACCCCGCCCCTTGATCCCTGCCCCGCTTCGCAGCCTCCCAGCTCTCGGAGCCTCACTCTGCCTCTTAGTCTT... | GAAAGTCGCAGAAGGGCTGGAGGACCTGGGAAGGAGGGGGAGTACCGAAGTGGGGGCCCAGCTGGACCCCGCCAAACCACGCCCATGAACCCACCCCCAAGCCACACCATCCACTCCCTATCCCTTTGCCATTCAACCCTTCCAAGCCGCGCCCCCTCCTATCAACTCCAACCTCTCAACACCTCCCCTACCCATCCCCAAACATCTCCCACCCGCTCTGCCAATCCCCGCCTCCTTCTCTCTGCCGGACCCCGCCCCTTGATCCCTGCCCCGCTTCGCAGCCTCCCAGCTCTCGGAGCCTCACTCTGCCTCTTAGTCTT... |
Task1_train_26919 | Gene SLC5A5 (solute carrier family 5 member 5) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Thyroid dyshormonogenesis 1 | GGCTGGAGTGCTGTGCAGTTCTCGACCACAGCTCATTGCAGCCTCGAACTTCCACGCTCAAGCGATCCTCCCACTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTCGCTAATATTTGTATTTTTCATACAGACAAGATCTCACTATGTTGCTCAGGGTAGTCTCGAATTCTGGGACTCAAATGATCCTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATCATGCCCGGCCTCTGACGCTGTTTCTTTCAACCCCCAGGATTTCAGATTCCACCAGCTTATGGAGAAGGGA... | GGCTGGAGTGCTGTGCAGTTCTCGACCACAGCTCATTGCAGCCTCGAACTTCCACGCTCAAGCGATCCTCCCACTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTCGCTAATATTTGTATTTTTCATACAGACAAGATCTCACTATGTTGCTCAGGGTAGTCTCGAATTCTGGGACTCAAATGATCCTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATCATGCCCGGCCTCTGACGCTGTTTCTTTCAACCCCCAGGATTTCAGATTCCACCAGCTTATGGAGAAGGGA... |
Task1_train_26920 | This sequence change occurs on Chromosome 19, altering SLC5A5 (solute carrier family 5 member 5). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TTTTTGAGCCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAACCTCAGCTCACTGCAACCTCTGGCTCCCAGGATCAAGCCATTCTCTTGCCTCAGCCCCCGAGTAGCTGGGATGACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTGTATTTTTTGTAGGGGTGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCTGAATGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTTTCTTTCTTTTCTTTCTTTTTTTTTTTTTTT... | TTTTTGAGCCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAACCTCAGCTCACTGCAACCTCTGGCTCCCAGGATCAAGCCATTCTCTTGCCTCAGCCCCCGAGTAGCTGGGATGACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTGTATTTTTTGTAGGGGTGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCTGAATGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTTTCTTTCTTTTCTTTCTTTTTTTTTTTTTTT... |
Task1_train_26921 | This genomic variant is located on Chromosome 19, within the SLC5A5 (solute carrier family 5 member 5) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Thyroid dyshormonogenesis 1 | GCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCTGAATGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTTTCTTTCTTTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTTTGGCTCTGTTGTGCAGGCTGGAGTGCAACGGCGCGATCTCCGCTCGCTGCAACCTCTACCTCTCAGATTCAGGCAATTCCTCTGCCTCAGCCTCCCAAGTAGCTGGGACTCCAGGTGCCAACCACCACACCCAGCTAATTTATGTATTTTGGGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGT... | GCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCTGAATGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTTTCTTTCTTTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTTTGGCTCTGTTGTGCAGGCTGGAGTGCAACGGCGCGATCTCCGCTCGCTGCAACCTCTACCTCTCAGATTCAGGCAATTCCTCTGCCTCAGCCTCCCAAGTAGCTGGGACTCCAGGTGCCAACCACCACACCCAGCTAATTTATGTATTTTGGGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGT... |
Task1_train_26922 | The gene SLC5A5 (solute carrier family 5 member 5) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Thyroid dyshormonogenesis 1 | GTTTCCACTCTTCCGGGACTTCTGGTCACATGCCCTCACTGTCCCTTTTGCAAATCTCCCACATGTGACTGCAGTCCCTCTGGAACCAGAACCCACCTGTCTGTCCCACCTGCCCTTGGTCACAGGTGTCCTTGCTCCTGTAGGGATGTCTCAGGTCTTCGGGGAGGGGAGGGGCAAATATCTCCTTCACCTTTGCAGGACTGGGTTACCCCCACCGTTGCCCTCAGGCTGGGTGAGGTCTGGCAGGCCAGATGGTGTGGACGGTCTCTCCATATGGCCTGAGGACCCCCCGCTGCCTTCCTCACACAGCACAGCATCCA... | GTTTCCACTCTTCCGGGACTTCTGGTCACATGCCCTCACTGTCCCTTTTGCAAATCTCCCACATGTGACTGCAGTCCCTCTGGAACCAGAACCCACCTGTCTGTCCCACCTGCCCTTGGTCACAGGTGTCCTTGCTCCTGTAGGGATGTCTCAGGTCTTCGGGGAGGGGAGGGGCAAATATCTCCTTCACCTTTGCAGGACTGGGTTACCCCCACCGTTGCCCTCAGGCTGGGTGAGGTCTGGCAGGCCAGATGGTGTGGACGGTCTCTCCATATGGCCTGAGGACCCCCCGCTGCCTTCCTCACACAGCACAGCATCCA... |
Task1_train_26923 | A variant affecting Chromosome 19, within the gene SLC5A5 (solute carrier family 5 member 5), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Thyroid dyshormonogenesis 1 | TGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCCGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCATATGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGTCAGGGTGGTCTCAAACCCCTGACCTCAGATGATCCGCCTGCCTTGGCCTCCCAGGGTGTTAGGATTACAGGCCTGAGCCACCACGCCCGGCCTATGTTTAACTTTTTGAGGAACTACCAGACTGTTTTCCACAGCGGCCACATCATTTTACATTCCGACCAGCAACATATGAGGATTCTAACTTCTCC... | TGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCCGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCATATGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGTCAGGGTGGTCTCAAACCCCTGACCTCAGATGATCCGCCTGCCTTGGCCTCCCAGGGTGTTAGGATTACAGGCCTGAGCCACCACGCCCGGCCTATGTTTAACTTTTTGAGGAACTACCAGACTGTTTTCCACAGCGGCCACATCATTTTACATTCCGACCAGCAACATATGAGGATTCTAACTTCTCC... |
Task1_train_26924 | This genomic variant is located on Chromosome 19, within the IL12RB1 (interleukin 12 receptor subunit beta 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | GCATCCCCAGGGATAACTGCCACCTGTAATCTCATGTTGCCTAAGGTTTTTTGTTTGTTTGTTTGTTCGTTTGCTTTTTGAGACGAAGTCTCACTCTATTACCTAGGCTGGAGTGCACTGGTGCGATCTCGGCTCACTGCAATCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGTTCTTGAACTCCTGACCTTGTGATCCACTTGCCTCGGCCTCCCA... | GCATCCCCAGGGATAACTGCCACCTGTAATCTCATGTTGCCTAAGGTTTTTTGTTTGTTTGTTTGTTCGTTTGCTTTTTGAGACGAAGTCTCACTCTATTACCTAGGCTGGAGTGCACTGGTGCGATCTCGGCTCACTGCAATCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGTTCTTGAACTCCTGACCTTGTGATCCACTTGCCTCGGCCTCCCA... |
Task1_train_26925 | This mutation is located in gene IL12RB1 (interleukin 12 receptor subunit beta 1) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | ATCCCCAGGGATAACTGCCACCTGTAATCTCATGTTGCCTAAGGTTTTTTGTTTGTTTGTTTGTTCGTTTGCTTTTTGAGACGAAGTCTCACTCTATTACCTAGGCTGGAGTGCACTGGTGCGATCTCGGCTCACTGCAATCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGTTCTTGAACTCCTGACCTTGTGATCCACTTGCCTCGGCCTCCCAAA... | ATCCCCAGGGATAACTGCCACCTGTAATCTCATGTTGCCTAAGGTTTTTTGTTTGTTTGTTTGTTCGTTTGCTTTTTGAGACGAAGTCTCACTCTATTACCTAGGCTGGAGTGCACTGGTGCGATCTCGGCTCACTGCAATCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGTTCTTGAACTCCTGACCTTGTGATCCACTTGCCTCGGCCTCCCAAA... |
Task1_train_26926 | This mutation is located in gene IL12RB1 (interleukin 12 receptor subunit beta 1) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | GTTTTTTGTTTGTTTGTTTGTTCGTTTGCTTTTTGAGACGAAGTCTCACTCTATTACCTAGGCTGGAGTGCACTGGTGCGATCTCGGCTCACTGCAATCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGTTCTTGAACTCCTGACCTTGTGATCCACTTGCCTCGGCCTCCCAAACTGCTGGAATTATAGGCGTGAGCCACTGCGCCTGGCCTCTAAG... | GTTTTTTGTTTGTTTGTTTGTTCGTTTGCTTTTTGAGACGAAGTCTCACTCTATTACCTAGGCTGGAGTGCACTGGTGCGATCTCGGCTCACTGCAATCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGTTCTTGAACTCCTGACCTTGTGATCCACTTGCCTCGGCCTCCCAAACTGCTGGAATTATAGGCGTGAGCCACTGCGCCTGGCCTCTAAG... |
Task1_train_26927 | This variant lies on Chromosome 19 and affects the gene IL12RB1 (interleukin 12 receptor subunit beta 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | ATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACGCCCAGCCCCATTTTATTTTATTTTTTAGAGATGGGGTCTCACTATGTTGCCCGGGCTGGTCTCAAACCACTGGCCTCAAGTGATCCTCCCGCCTCAGCCTTCTGAGCAGCTGGAACTACAGGTGTGCACCACCACCTCCGGCTGTTGCCTTATTTCTAATGCTTGCCCCTGTTCCTGTACTCAGAGTGATCTTACCAGGGGGAACGCACACGGGGCTGCTCCACTTGCTCCAGGAACTTCCTTGGCTCCCCAGCTGCCGTCGTCGG... | ATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACGCCCAGCCCCATTTTATTTTATTTTTTAGAGATGGGGTCTCACTATGTTGCCCGGGCTGGTCTCAAACCACTGGCCTCAAGTGATCCTCCCGCCTCAGCCTTCTGAGCAGCTGGAACTACAGGTGTGCACCACCACCTCCGGCTGTTGCCTTATTTCTAATGCTTGCCCCTGTTCCTGTACTCAGAGTGATCTTACCAGGGGGAACGCACACGGGGCTGCTCCACTTGCTCCAGGAACTTCCTTGGCTCCCCAGCTGCCGTCGTCGG... |
Task1_train_26928 | Given a variant located on Chromosome 19 and affecting MAST3 (microtubule associated serine/threonine kinase 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Developmental and epileptic encephalopathy 108 | AAAGGGCTGGGTTTGCCGAGGTCTTGCATGTAGCTTAATTAGCATCGGTGACTTTGGAGGCAAGGTGACGGCACGTGGGACTGCCCTGCCTTGGAAGTCGGGTGGGGGCAGTGCTGGAGGGGCACTGGACAGGTGAGTTTTGCAGGACGTGTAAGAATTTCCCAGGAGGAGGGCACAGCTGTGAGCAAAAAAGTACAGAAAGTCAGAAGCTGAGTTGGAGAAGTTTGGACAGGGGAGGAGGTAGCATCGGGCACCAGGACCAGTGGTTTGGGCTTGGGGGCAGGAGAAGCCTTCCCAGCTCTGCAGCGGGGCAGGACCCT... | AAAGGGCTGGGTTTGCCGAGGTCTTGCATGTAGCTTAATTAGCATCGGTGACTTTGGAGGCAAGGTGACGGCACGTGGGACTGCCCTGCCTTGGAAGTCGGGTGGGGGCAGTGCTGGAGGGGCACTGGACAGGTGAGTTTTGCAGGACGTGTAAGAATTTCCCAGGAGGAGGGCACAGCTGTGAGCAAAAAAGTACAGAAAGTCAGAAGCTGAGTTGGAGAAGTTTGGACAGGGGAGGAGGTAGCATCGGGCACCAGGACCAGTGGTTTGGGCTTGGGGGCAGGAGAAGCCTTCCCAGCTCTGCAGCGGGGCAGGACCCT... |
Task1_train_26929 | A mutation found in MAST3 (microtubule associated serine/threonine kinase 3) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Developmental and epileptic encephalopathy 108 | GGTGGTAAGCACCTACTGCATGCCAGACCCTCTGTGGGCAACTGGGAGACACAGGGCCACCTGCTTTGAAACCCCTGTATTATTTTCTCCTCTGCATTTATTGAGCGCCTGCTGTGTGCAGGGAAAAAGGAATGCCTGTTTGTCAGGTGTCCTCGAGATACGAGGCAAGAACTGACATTTCTCACATACATGTGTGGAGATGTGAACATGAGTGTTAAGAGCCTTGCATGTAGGCCAGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGCCCAG... | GGTGGTAAGCACCTACTGCATGCCAGACCCTCTGTGGGCAACTGGGAGACACAGGGCCACCTGCTTTGAAACCCCTGTATTATTTTCTCCTCTGCATTTATTGAGCGCCTGCTGTGTGCAGGGAAAAAGGAATGCCTGTTTGTCAGGTGTCCTCGAGATACGAGGCAAGAACTGACATTTCTCACATACATGTGTGGAGATGTGAACATGAGTGTTAAGAGCCTTGCATGTAGGCCAGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGCCCAG... |
Task1_train_26930 | This sequence change occurs on Chromosome 19, altering MAST3 (microtubule associated serine/threonine kinase 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Developmental and epileptic encephalopathy 108 | GTAAGCACCTACTGCATGCCAGACCCTCTGTGGGCAACTGGGAGACACAGGGCCACCTGCTTTGAAACCCCTGTATTATTTTCTCCTCTGCATTTATTGAGCGCCTGCTGTGTGCAGGGAAAAAGGAATGCCTGTTTGTCAGGTGTCCTCGAGATACGAGGCAAGAACTGACATTTCTCACATACATGTGTGGAGATGTGAACATGAGTGTTAAGAGCCTTGCATGTAGGCCAGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGCCCAGCCTG... | GTAAGCACCTACTGCATGCCAGACCCTCTGTGGGCAACTGGGAGACACAGGGCCACCTGCTTTGAAACCCCTGTATTATTTTCTCCTCTGCATTTATTGAGCGCCTGCTGTGTGCAGGGAAAAAGGAATGCCTGTTTGTCAGGTGTCCTCGAGATACGAGGCAAGAACTGACATTTCTCACATACATGTGTGGAGATGTGAACATGAGTGTTAAGAGCCTTGCATGTAGGCCAGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGCCCAGCCTG... |
Task1_train_26931 | A variant was discovered in gene MAST3 (microtubule associated serine/threonine kinase 3), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Developmental and epileptic encephalopathy 108 | GTTAAGAGCCTTGCATGTAGGCCAGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGCCCAGCCTGGCCAACATAGTGAAACCTTGTCTCTACTAAAAATACAAAAATCAGCTGGGAGTGGTAGCGCGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGCGGAGGTTGCAATGAGCCAAGATCGTGCCACTGCACCCAAGCCTGGGCGACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAAGCGCCTCGC... | GTTAAGAGCCTTGCATGTAGGCCAGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGCCCAGCCTGGCCAACATAGTGAAACCTTGTCTCTACTAAAAATACAAAAATCAGCTGGGAGTGGTAGCGCGCACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGCGGAGGTTGCAATGAGCCAAGATCGTGCCACTGCACCCAAGCCTGGGCGACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAAGCGCCTCGC... |
Task1_train_26932 | Here’s a variant in PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | CAGCGAATCTCACTACCGCCCGGAGCTGCCCGCACCGCGTACAGGTGAAGGGGAGCCTCAATGGGGTTGGGAGGAGGCTGGGGGCCCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGC... | CAGCGAATCTCACTACCGCCCGGAGCTGCCCGCACCGCGTACAGGTGAAGGGGAGCCTCAATGGGGTTGGGAGGAGGCTGGGGGCCCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGC... |
Task1_train_26933 | Given this context: Chromosome 19, gene PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; PIK3R2-related disorder | TCACTACCGCCCGGAGCTGCCCGCACCGCGTACAGGTGAAGGGGAGCCTCAATGGGGTTGGGAGGAGGCTGGGGGCCCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCAC... | TCACTACCGCCCGGAGCTGCCCGCACCGCGTACAGGTGAAGGGGAGCCTCAATGGGGTTGGGAGGAGGCTGGGGGCCCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCAC... |
Task1_train_26934 | Given this context: Chromosome 19, gene PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | TCACTACCGCCCGGAGCTGCCCGCACCGCGTACAGGTGAAGGGGAGCCTCAATGGGGTTGGGAGGAGGCTGGGGGCCCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCAC... | TCACTACCGCCCGGAGCTGCCCGCACCGCGTACAGGTGAAGGGGAGCCTCAATGGGGTTGGGAGGAGGCTGGGGGCCCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCAC... |
Task1_train_26935 | A change on Chromosome 19 affects gene PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | GCGTACAGGTGAAGGGGAGCCTCAATGGGGTTGGGAGGAGGCTGGGGGCCCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCACCCTGCCCTGGCCATCTGTCCGCAGAGG... | GCGTACAGGTGAAGGGGAGCCTCAATGGGGTTGGGAGGAGGCTGGGGGCCCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCACCCTGCCCTGGCCATCTGTCCGCAGAGG... |
Task1_train_26936 | A mutation on Chromosome 19 affecting PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | CCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCACCCTGCCCTGGCCATCTGTCCGCAGAGGCCGCGGGGCCCGTGGGGCCGGCGCTGGAGCCACCGACGCTGCCGCTGCA... | CCCAGTACACATGAGTTGGACGTGTGCCCCCCTGCACCCGCAGACTGGTCCCTGAGCGACGTGGATCAGTGGGACACGGCAGCCCTGGCTGACGGCATTAAGAGCTTCCTGCTGGCACTGCCCGCGCCGCTCGTGACCCCCGAGGCCTCGGCCGAGGCGCGCCGGGCCCTGCGGGGTGAGCCTGGCGGGTAGCCCGGGGGAAGGAGGGGGCTGTAGCGGGTGGGAGGGCCCAGGCCTGGCTCACCCTGCCCTGGCCATCTGTCCGCAGAGGCCGCGGGGCCCGTGGGGCCGGCGCTGGAGCCACCGACGCTGCCGCTGCA... |
Task1_train_26937 | An alteration has been detected in PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | ATCCCTGTCTCTACTAAAAATACAAAAAATTAGGCGTCATGGCATGCACCTGTAATCGCAGCTACTCAAGAGGCTGAGGCAGGAGAATAGCTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCATCCTGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATGGTGGCTCACACCTGTAATACCAGCTACTTGGAAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCTCCAGCCTGGGC... | ATCCCTGTCTCTACTAAAAATACAAAAAATTAGGCGTCATGGCATGCACCTGTAATCGCAGCTACTCAAGAGGCTGAGGCAGGAGAATAGCTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCATCCTGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATGGTGGCTCACACCTGTAATACCAGCTACTTGGAAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCTCCAGCCTGGGC... |
Task1_train_26938 | A variant affecting Chromosome 19, within the gene PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; PIK3R2-related disorder | ATCCCTGTCTCTACTAAAAATACAAAAAATTAGGCGTCATGGCATGCACCTGTAATCGCAGCTACTCAAGAGGCTGAGGCAGGAGAATAGCTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCATCCTGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATGGTGGCTCACACCTGTAATACCAGCTACTTGGAAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCTCCAGCCTGGGC... | ATCCCTGTCTCTACTAAAAATACAAAAAATTAGGCGTCATGGCATGCACCTGTAATCGCAGCTACTCAAGAGGCTGAGGCAGGAGAATAGCTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCATCCTGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATGGTGGCTCACACCTGTAATACCAGCTACTTGGAAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCTCCAGCCTGGGC... |
Task1_train_26939 | This sequence variant lies in PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | ACAAAAAATTAGGCGTCATGGCATGCACCTGTAATCGCAGCTACTCAAGAGGCTGAGGCAGGAGAATAGCTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCATCCTGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATGGTGGCTCACACCTGTAATACCAGCTACTTGGAAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCTCCAGCCTGGGCGACAAGAGCAAGACTCCATCT... | ACAAAAAATTAGGCGTCATGGCATGCACCTGTAATCGCAGCTACTCAAGAGGCTGAGGCAGGAGAATAGCTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCATCCTGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCATGGTGGCTCACACCTGTAATACCAGCTACTTGGAAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCTCCAGCCTGGGCGACAAGAGCAAGACTCCATCT... |
Task1_train_26940 | The following genetic variant occurs in CRLF1 (cytokine receptor like factor 1) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cold-induced sweating syndrome 1 | TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCTCCCTTCCACTCTTACTGAAATCTTTGATGTGACATTTTGCTGGGTGCAGAGAAGCAACTGAGGCTTAGAACTTTCCCACTGTAGCGTTAGGATGTGGGGAAGAGTGAGGCAGGCTGCGGGGGCAGGGATGGGGGCTACAACCCAGGCGTATGTGTGTGTTGGGGGGTTCTGAGGATCCTTCTGGGGGCCCCTGAGGGCAGCAGGGTGAGCTGGCCTCTCCCCCTGAGGCCTTGGTGAGGGGCCTAAAGGGTTAAGGCACAGGCCTGCTTGGGGC... | TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCTCCCTTCCACTCTTACTGAAATCTTTGATGTGACATTTTGCTGGGTGCAGAGAAGCAACTGAGGCTTAGAACTTTCCCACTGTAGCGTTAGGATGTGGGGAAGAGTGAGGCAGGCTGCGGGGGCAGGGATGGGGGCTACAACCCAGGCGTATGTGTGTGTTGGGGGGTTCTGAGGATCCTTCTGGGGGCCCCTGAGGGCAGCAGGGTGAGCTGGCCTCTCCCCCTGAGGCCTTGGTGAGGGGCCTAAAGGGTTAAGGCACAGGCCTGCTTGGGGC... |
Task1_train_26941 | The gene COMP (cartilage oligomeric matrix protein), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | CCGATGGAGCCGTCTCAGAGGCCGAGGGGCCCTCTGTGTGGGGGTGGGACGCAGGGGCTCTCAGAGCAAGGGCCACAAAGCCGATGGCACAGATGTGCCCCTGGGCCTGGCCCGTCACCCACATGTGGTGCCCTGGGCCAGGGCGTGCGGGCGCCAGAGCCTTCCCTACACAGCCTAAGAGCAGGGGCAAGACTCGGCCCCTCACTCACCCTGGGAGGCCTGCCTGGGCTACATGGACACCTGGGTCTCTTTCTACCCCCATTCACCATGGACCAGGGGCCTCCATTTCCTGGGGGCTCTTGCGGCATGTGATTTGGGGG... | CCGATGGAGCCGTCTCAGAGGCCGAGGGGCCCTCTGTGTGGGGGTGGGACGCAGGGGCTCTCAGAGCAAGGGCCACAAAGCCGATGGCACAGATGTGCCCCTGGGCCTGGCCCGTCACCCACATGTGGTGCCCTGGGCCAGGGCGTGCGGGCGCCAGAGCCTTCCCTACACAGCCTAAGAGCAGGGGCAAGACTCGGCCCCTCACTCACCCTGGGAGGCCTGCCTGGGCTACATGGACACCTGGGTCTCTTTCTACCCCCATTCACCATGGACCAGGGGCCTCCATTTCCTGGGGGCTCTTGCGGCATGTGATTTGGGGG... |
Task1_train_26942 | Consider this mutation in COMP (cartilage oligomeric matrix protein) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | CCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCCGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGC... | CCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCCGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGC... |
Task1_train_26943 | A variant has been detected on Chromosome 19 in COMP (cartilage oligomeric matrix protein). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | CCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCCGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGC... | CCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCCGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGC... |
Task1_train_26944 | This variant impacts the gene COMP (cartilage oligomeric matrix protein) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Carpal tunnel syndrome 2 | CCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCCGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGC... | CCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCCGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGC... |
Task1_train_26945 | A change on Chromosome 19 affects gene COMP (cartilage oligomeric matrix protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Multiple epiphyseal dysplasia type 1 | CCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCCGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGC... | CCTGTGTGCAGACTCCCCGCCCACGGCCCGCTGGCCCTCGGCTCACCATTGCAGCGGTAACGCAGGTTGGCCCAGATGATGTTCTCCTGGGAGAAGCAGAAGACCCCCAGGCGGCCACCCCGCATGGTTGTGTCCAAGACCACGTTGCTGTCGGCCACCAGCTCAGGGCCCTCATAGAATCGCACCCTGAGGGTCAGACATGGTGAGGCCTGGGGGACCTGGGCCAGACCCTTCCCTCTCAGAGCTTCAGTGGCCAGCCCTGGAAGATGGGTACCCCTGACTGGGCTGCACTGGGAGCAAGTGAGGCCTCTGCCTTGGGC... |
Task1_train_26946 | This alteration occurs within gene COMP (cartilage oligomeric matrix protein) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | GCCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATT... | GCCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATT... |
Task1_train_26947 | This alteration in COMP (cartilage oligomeric matrix protein) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | CCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTC... | CCGGGATGACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTC... |
Task1_train_26948 | Given this context: Chromosome 19, gene COMP (cartilage oligomeric matrix protein) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | GACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGC... | GACAGGGCCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGC... |
Task1_train_26949 | The following genetic variant occurs in COMP (cartilage oligomeric matrix protein) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | CACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCG... | CACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCG... |
Task1_train_26950 | A variant on Chromosome 19 in gene COMP (cartilage oligomeric matrix protein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | ACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGT... | ACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGT... |
Task1_train_26951 | The gene COMP (cartilage oligomeric matrix protein) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGAT... | CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGAT... |
Task1_train_26952 | The variant affects gene COMP (cartilage oligomeric matrix protein), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | GTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACC... | GTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGGCTGGTCTCAAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTAATTTTTTTCTTTTTTGTAGAGACAGGGTCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACC... |
Task1_train_26953 | This gene mutation involves COMP (cartilage oligomeric matrix protein) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCAC... | TCTTACTATGTTACCCAGGCTGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCAC... |
Task1_train_26954 | Mutation context: Chromosome 19, Gene COMP (cartilage oligomeric matrix protein). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | GATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGT... | GATCCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGT... |
Task1_train_26955 | This variant lies on Chromosome 19 and affects the gene COMP (cartilage oligomeric matrix protein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | TCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCT... | TCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCT... |
Task1_train_26956 | This variant affects the gene COMP (cartilage oligomeric matrix protein) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | ATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTAT... | ATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTAT... |
Task1_train_26957 | A mutation on Chromosome 19 affecting COMP (cartilage oligomeric matrix protein) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | ATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTAT... | ATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTAT... |
Task1_train_26958 | A variant affecting Chromosome 19, within the gene COMP (cartilage oligomeric matrix protein), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Abnormality of the skeletal system | CCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCG... | CCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCG... |
Task1_train_26959 | The gene COMP (cartilage oligomeric matrix protein) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Epiphyseal dysplasia, multiple, 1, severe | CATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGC... | CATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGC... |
Task1_train_26960 | This variant affects gene COMP (cartilage oligomeric matrix protein) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | ACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCAC... | ACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCAC... |
Task1_train_26961 | Mutation context: Chromosome 19, Gene COMP (cartilage oligomeric matrix protein). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | CAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACC... | CAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACC... |
Task1_train_26962 | This mutation is located in gene COMP (cartilage oligomeric matrix protein) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | GGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCC... | GGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCC... |
Task1_train_26963 | This alteration occurs within gene COMP (cartilage oligomeric matrix protein) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | TGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCA... | TGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCA... |
Task1_train_26964 | Gene COMP (cartilage oligomeric matrix protein), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | GGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAA... | GGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAA... |
Task1_train_26965 | Chromosome 19 houses a mutation in gene COMP (cartilage oligomeric matrix protein). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Multiple epiphyseal dysplasia type 1 | GTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTG... | GTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTG... |
Task1_train_26966 | Located on Chromosome 19, this mutation impacts COMP (cartilage oligomeric matrix protein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | CCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGAC... | CCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGAC... |
Task1_train_26967 | A variant found in Chromosome 19 affects COMP (cartilage oligomeric matrix protein). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | CCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGC... | CCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGC... |
Task1_train_26968 | The gene COMP (cartilage oligomeric matrix protein), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | TGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGC... | TGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGC... |
Task1_train_26969 | A variant on Chromosome 19 in gene COMP (cartilage oligomeric matrix protein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | ACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCC... | ACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCC... |
Task1_train_26970 | This is a variant in COMP (cartilage oligomeric matrix protein), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | ACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCC... | ACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCC... |
Task1_train_26971 | Gene COMP (cartilage oligomeric matrix protein), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | ATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGA... | ATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGA... |
Task1_train_26972 | A variant was discovered on Chromosome 19, affecting COMP (cartilage oligomeric matrix protein). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Epiphyseal dysplasia, multiple, 1, severe | GGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCG... | GGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCG... |
Task1_train_26973 | Here is a mutation in COMP (cartilage oligomeric matrix protein) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | GGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCA... | GGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCA... |
Task1_train_26974 | The gene COMP (cartilage oligomeric matrix protein) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | GCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAG... | GCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAG... |
Task1_train_26975 | This mutation occurs in COMP (cartilage oligomeric matrix protein) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | CGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCT... | CGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCT... |
Task1_train_26976 | A change on Chromosome 19 affects gene COMP (cartilage oligomeric matrix protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | CTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGG... | CTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGG... |
Task1_train_26977 | A genomic change on Chromosome 19 affects COMP (cartilage oligomeric matrix protein). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | TTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGT... | TTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGT... |
Task1_train_26978 | This genomic variant is located on Chromosome 19, within the COMP (cartilage oligomeric matrix protein) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Multiple epiphyseal dysplasia type 1 | GTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCAT... | GTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCAT... |
Task1_train_26979 | Given this context: Chromosome 19, gene COMP (cartilage oligomeric matrix protein) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | CTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCA... | CTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCA... |
Task1_train_26980 | This is a variant in COMP (cartilage oligomeric matrix protein), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | AAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCAT... | AAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCAT... |
Task1_train_26981 | A variant affecting Chromosome 19, within the gene COMP (cartilage oligomeric matrix protein), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | GGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACA... | GGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACA... |
Task1_train_26982 | Consider a variant on Chromosome 19 in gene COMP (cartilage oligomeric matrix protein). Determine its clinical classification and disease relevance. | Pathogenic; Carpal tunnel syndrome 2 | GGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCA... | GGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCA... |
Task1_train_26983 | The gene CERS1, GDF1 (ceramide synthase 1| growth differentiation factor 1), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; GDF1-related disorder | TTGAAAGGGGACTACGTCTTAGCAGGAAAAAAAACTTCGCATTTCTGTGCCCGAGCAGGCTCCTTGCAAAGACAGCAGCGTGCGGGGCAGAGCCCCGGGAGGGCGCGTCTGTCCACGCCTACCGGACGCGCCGAGGTCGCGCTGCCTGTGTTCTCCGAGGGCCTTCATTTAAAGAAAATAAGGGTGTTTTGGGTTTTTCTCTTTGTTTTTTTCAAGATTCTTTTAAAGGAGTACTGAAGAATACTTTCCTAAGTTTGTCTGTAAAATCTTAGCGGTGGACCTGGGAGATTTGAGAAGCTTCCAGAAACAGTTTAAACAAG... | TTGAAAGGGGACTACGTCTTAGCAGGAAAAAAAACTTCGCATTTCTGTGCCCGAGCAGGCTCCTTGCAAAGACAGCAGCGTGCGGGGCAGAGCCCCGGGAGGGCGCGTCTGTCCACGCCTACCGGACGCGCCGAGGTCGCGCTGCCTGTGTTCTCCGAGGGCCTTCATTTAAAGAAAATAAGGGTGTTTTGGGTTTTTCTCTTTGTTTTTTTCAAGATTCTTTTAAAGGAGTACTGAAGAATACTTTCCTAAGTTTGTCTGTAAAATCTTAGCGGTGGACCTGGGAGATTTGAGAAGCTTCCAGAAACAGTTTAAACAAG... |
Task1_train_26984 | This variant affects gene GDF1, CERS1 (growth differentiation factor 1| ceramide synthase 1) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Progressive myoclonic epilepsy type 8 | GATTACAGGCATGAGCCACTGCACCTGGCCTTTTCTCCATAATTCTTATCACCTTCAAATGAACTGTTCCTTCCTTCCTTTTTGGTTCTATCATCTGATTCTGCCCTCTAGAGAGCCTTGAATTATAGAACTTTCTAGAACTATGGGAATGTTCTAAACCTGTACTGTCCAACATGGGAGCCACCAGCCACTTGTGGCCACTGAGCCCTTGAACTGTGGCTTGTGTGGCTGAGGAATGGAATAGGGGCTTTTTAAAATTATTTTTTAAACTAACCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCG... | GATTACAGGCATGAGCCACTGCACCTGGCCTTTTCTCCATAATTCTTATCACCTTCAAATGAACTGTTCCTTCCTTCCTTTTTGGTTCTATCATCTGATTCTGCCCTCTAGAGAGCCTTGAATTATAGAACTTTCTAGAACTATGGGAATGTTCTAAACCTGTACTGTCCAACATGGGAGCCACCAGCCACTTGTGGCCACTGAGCCCTTGAACTGTGGCTTGTGTGGCTGAGGAATGGAATAGGGGCTTTTTAAAATTATTTTTTAAACTAACCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCG... |
Task1_train_26985 | This variant lies on Chromosome 19 and affects the gene LOC130064074, NDUFA13 (ATAC-STARR-seq lymphoblastoid active region 14360| NADH:ubiquinone oxidoreductase subunit A13). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hurthle cell carcinoma of thyroid | CCGTTAGAGCCAGGTGCGAGGAACAGCGAGTTTATTGCAGGTTCCAACCGGGAACCTGGCACCCACGGCTGGTTGGGAAGGGACGCCCTCCGCGCAGAGGCTGAGAGTTCCGCGCAGGCGCAATGCTTCCGTCCCCTCTGGTCTCGCCCTCTCGGGGCCTGGTCGCAGGGAATCGCGGATGCGCATGCGCCTCCAGCTCCCGGGATCGCGGGGAACGTGGATTCCGAACAAGGGCAACTGCGGACTCCCCCGTGGGAAGAAAGGGAGGGAAGCGGAAGGGAAAAAGCGCATGTGCAGCAGCACGCGGCAGCTTCGCATAT... | CCGTTAGAGCCAGGTGCGAGGAACAGCGAGTTTATTGCAGGTTCCAACCGGGAACCTGGCACCCACGGCTGGTTGGGAAGGGACGCCCTCCGCGCAGAGGCTGAGAGTTCCGCGCAGGCGCAATGCTTCCGTCCCCTCTGGTCTCGCCCTCTCGGGGCCTGGTCGCAGGGAATCGCGGATGCGCATGCGCCTCCAGCTCCCGGGATCGCGGGGAACGTGGATTCCGAACAAGGGCAACTGCGGACTCCCCCGTGGGAAGAAAGGGAGGGAAGCGGAAGGGAAAAAGCGCATGTGCAGCAGCACGCGGCAGCTTCGCATAT... |
Task1_train_26986 | This alteration occurs within gene LOC125371495, NDUFA13 (Sharpr-MPRA regulatory region 9511| NADH:ubiquinone oxidoreductase subunit A13) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Hypertrophic cardiomyopathy | CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTC... | CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTC... |
Task1_train_26987 | The gene LOC125371495, NDUFA13 (Sharpr-MPRA regulatory region 9511| NADH:ubiquinone oxidoreductase subunit A13) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Severe global developmental delay | CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTC... | CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTC... |
Task1_train_26988 | This mutation occurs in LOC125371495, NDUFA13 (Sharpr-MPRA regulatory region 9511| NADH:ubiquinone oxidoreductase subunit A13) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Decreased activity of mitochondrial complex I | CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTC... | CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTC... |
Task1_train_26989 | The gene LOC125371495, NDUFA13 (Sharpr-MPRA regulatory region 9511| NADH:ubiquinone oxidoreductase subunit A13), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Nystagmus | CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTC... | CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTC... |
Task1_train_26990 | A variant affecting Chromosome 19, within the gene LOC125371495, NDUFA13 (Sharpr-MPRA regulatory region 9511| NADH:ubiquinone oxidoreductase subunit A13), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Lactic acidosis | CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTC... | CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTC... |
Task1_train_26991 | The gene LOC125371495, NDUFA13 (Sharpr-MPRA regulatory region 9511| NADH:ubiquinone oxidoreductase subunit A13), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Leigh syndrome | CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTC... | CCCTTTTGTGCGTGCCCCTCACCATGTTCCCCACCAGACTAGCAGTTCCTAAGGCACAGACTCTGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTC... |
Task1_train_26992 | The variant affects gene LOC125371495, NDUFA13 (Sharpr-MPRA regulatory region 9511| NADH:ubiquinone oxidoreductase subunit A13), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 28 | TGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTCTGCACCAGAAGGCTGAGGGCAGCCCAGGTCTGTCCCCTGGGTTCTCTGTAGCCGTGGAAAATA... | TGAGGCCTGGGGCCTTGGCCCCCCTGTGGTTGGCGAGGAGGAAGAGCCCTGTGCAGGCTGCATGCAAATACAAGAGGCCCTGCATTGTTTCTGTCATCTCATACATCTCTGTTCTATGCCAGTGCCACGCTGTCTTGTACACACAGCTGTGGGATAAGTTTTGGAATTTATTTCTTCTTTGGAATTTATCTTACAGATGGGCCTGCGTATGAGTGCGCAGGTGTGAGGGTGCAGGTTCTCCCCAAGGGCCCATTTTCTGCACCAGAAGGCTGAGGGCAGCCCAGGTCTGTCCCCTGGGTTCTCTGTAGCCGTGGAAAATA... |
Task1_train_26993 | This mutation is located in gene UQCRFS1 (ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Lactic acidosis | TGACTTTTTAATGACTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTACAGGCAACCTAAAAATTGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCAGCATCACTGGCCATCAGAGAAATGTAAGCCTCCAATTTTTTGAAGAAACTTTAGCAACACGACG... | TGACTTTTTAATGACTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTACAGGCAACCTAAAAATTGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCAGCATCACTGGCCATCAGAGAAATGTAAGCCTCCAATTTTTTGAAGAAACTTTAGCAACACGACG... |
Task1_train_26994 | Here is a mutation in UQCRFS1 (ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cardiomyopathy | TGACTTTTTAATGACTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTACAGGCAACCTAAAAATTGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCAGCATCACTGGCCATCAGAGAAATGTAAGCCTCCAATTTTTTGAAGAAACTTTAGCAACACGACG... | TGACTTTTTAATGACTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTACAGGCAACCTAAAAATTGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCAGCATCACTGGCCATCAGAGAAATGTAAGCCTCCAATTTTTTGAAGAAACTTTAGCAACACGACG... |
Task1_train_26995 | A variant on Chromosome 19 in gene UQCRFS1 (ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Propionic acidemia | TGACTTTTTAATGACTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTACAGGCAACCTAAAAATTGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCAGCATCACTGGCCATCAGAGAAATGTAAGCCTCCAATTTTTTGAAGAAACTTTAGCAACACGACG... | TGACTTTTTAATGACTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTACAGGCAACCTAAAAATTGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCAGCATCACTGGCCATCAGAGAAATGTAAGCCTCCAATTTTTTGAAGAAACTTTAGCAACACGACG... |
Task1_train_26996 | This alteration occurs within gene C19orf12 (chromosome 19 open reading frame 12) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Neurodegeneration with brain iron accumulation 4 | CTGCAAGAGAAAGGCTCGGCCCTTCCTTAATCACCATGGGTTATAATTCACCCTGACGTCCTTACACACATGGAGGTGCCAGGATACTGAGCTTTCCTATAAGCAGGGCCTCAGCAGAAGTGCCTCCCTCCGAGCCTCCAGGGCCTGAGAGGAGAGCCCCAAGTCCCTGCCCTGCCCCAGGACCTGGGGACCAAGGAATAACATTTTTTGTAGAGATGGAGGTCTCACTATATTGCCCAGGCTAGTTTCAAACTCTTGGCCTCAAGCGATCCTCCCACTTTGGCCTCCAAAAGTGCCGACATTACAAGCATGAGCCACCT... | CTGCAAGAGAAAGGCTCGGCCCTTCCTTAATCACCATGGGTTATAATTCACCCTGACGTCCTTACACACATGGAGGTGCCAGGATACTGAGCTTTCCTATAAGCAGGGCCTCAGCAGAAGTGCCTCCCTCCGAGCCTCCAGGGCCTGAGAGGAGAGCCCCAAGTCCCTGCCCTGCCCCAGGACCTGGGGACCAAGGAATAACATTTTTTGTAGAGATGGAGGTCTCACTATATTGCCCAGGCTAGTTTCAAACTCTTGGCCTCAAGCGATCCTCCCACTTTGGCCTCCAAAAGTGCCGACATTACAAGCATGAGCCACCT... |
Task1_train_26997 | Gene SLC7A9 (solute carrier family 7 member 9) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cystinuria | TGTGACGGCCCCAAGATCTTTATTATTTTTTTGTATCAGAAAGCGCCAATGCCCAGGCTTATGTATGTCCCAGCAGAAGCCACCGCTTGAACTAGAGGTGAACTTTGTCATCAAGCTGTCCTGTGAGCAGGTCTGGATCACACTCTGGCTCAGTTTTCTCATCTGTAAAATGAGACATCCCCTCATTGTGTGGCCTGGCCTTGTCTCAGGGAGCGCCCGCCGAGTGCTGCTGGGTTGGGCAGTTTTTCTGCCCAGTGGCTCTGATGGGGGCTCAGAGCCCTGGCCTCCCCTGGGAGGACACGCTGTGCAGCCAGGACAGC... | TGTGACGGCCCCAAGATCTTTATTATTTTTTTGTATCAGAAAGCGCCAATGCCCAGGCTTATGTATGTCCCAGCAGAAGCCACCGCTTGAACTAGAGGTGAACTTTGTCATCAAGCTGTCCTGTGAGCAGGTCTGGATCACACTCTGGCTCAGTTTTCTCATCTGTAAAATGAGACATCCCCTCATTGTGTGGCCTGGCCTTGTCTCAGGGAGCGCCCGCCGAGTGCTGCTGGGTTGGGCAGTTTTTCTGCCCAGTGGCTCTGATGGGGGCTCAGAGCCCTGGCCTCCCCTGGGAGGACACGCTGTGCAGCCAGGACAGC... |
Task1_train_26998 | Consider a variant on Chromosome 19 in gene SLC7A9 (solute carrier family 7 member 9). Determine its clinical classification and disease relevance. | Pathogenic; not provided | TCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAGTGAATTTTTAATGTTCTCAGCATAAAGAAGTATGTGAGGTGATACATATGCCATTCCACAATGTTTACATGTATTGAAACATCACACTGTACCACATACATATATGCAATTATTGTTGTTATTTTTTAGAGGCAGGGTCTTACTCTGTTACCCAGGCAGGAGTGCAGTGGTGTGATCGTGGCCCACTGCAGCCTGGAACTTCTGGGCTTCTGGAACTACAGGCATGGGCCTCTACACC... | TCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAGTGAATTTTTAATGTTCTCAGCATAAAGAAGTATGTGAGGTGATACATATGCCATTCCACAATGTTTACATGTATTGAAACATCACACTGTACCACATACATATATGCAATTATTGTTGTTATTTTTTAGAGGCAGGGTCTTACTCTGTTACCCAGGCAGGAGTGCAGTGGTGTGATCGTGGCCCACTGCAGCCTGGAACTTCTGGGCTTCTGGAACTACAGGCATGGGCCTCTACACC... |
Task1_train_26999 | This gene mutation involves SLC7A9 (solute carrier family 7 member 9) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TCTAAAGGATTGGCAAACCACAGCTGTTTGGGCAAATAAAGTTTTATTGGAACATGACCATGGCTGTTCACTCTTGGGTACCAAGGCAGAGTTGAGAATCTGTGACAGAGGTTTATGCAGCCTGCGAGCCTGGAATATTTACCATCTGGCCCTTTAAGGGAAAGTTAGCCAATTCTGGGTTATTTATTAATTTGCTAATTAGCAAATTAGTTTGTATATATTAACATGGGGAAGATGTTCAGGAAATATCACTATGTGAAAAATATCACTAGGTGAAAAGGTAAAAAGTGCCACGTGGAAAACCAGTGCCTCATTCACGC... | TCTAAAGGATTGGCAAACCACAGCTGTTTGGGCAAATAAAGTTTTATTGGAACATGACCATGGCTGTTCACTCTTGGGTACCAAGGCAGAGTTGAGAATCTGTGACAGAGGTTTATGCAGCCTGCGAGCCTGGAATATTTACCATCTGGCCCTTTAAGGGAAAGTTAGCCAATTCTGGGTTATTTATTAATTTGCTAATTAGCAAATTAGTTTGTATATATTAACATGGGGAAGATGTTCAGGAAATATCACTATGTGAAAAATATCACTAGGTGAAAAGGTAAAAAGTGCCACGTGGAAAACCAGTGCCTCATTCACGC... |
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