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_27500 | The gene PPP2R1A (protein phosphatase 2 scaffold subunit Aalpha) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Houge-Janssens syndrome 2 | TTAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCTTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCGTTTTCTCTTCTTTAAAATCAGGACTTGCTTTATAGAATTCAGTGAGGAAGAACAAGCACCCCTGGTACAACACGGAGGTCCTGCCTAGTACACACAGTGAGTAGATGTTCTACACAGTGTCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATGGA... | TTAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCTTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCGTTTTCTCTTCTTTAAAATCAGGACTTGCTTTATAGAATTCAGTGAGGAAGAACAAGCACCCCTGGTACAACACGGAGGTCCTGCCTAGTACACACAGTGAGTAGATGTTCTACACAGTGTCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATGGA... |
Task1_train_27501 | A mutation on Chromosome 19 affecting PPP2R1A (protein phosphatase 2 scaffold subunit Aalpha) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Houge-Janssens syndrome 2 | TAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCTTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCGTTTTCTCTTCTTTAAAATCAGGACTTGCTTTATAGAATTCAGTGAGGAAGAACAAGCACCCCTGGTACAACACGGAGGTCCTGCCTAGTACACACAGTGAGTAGATGTTCTACACAGTGTCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATGGAC... | TAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCTTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCGTTTTCTCTTCTTTAAAATCAGGACTTGCTTTATAGAATTCAGTGAGGAAGAACAAGCACCCCTGGTACAACACGGAGGTCCTGCCTAGTACACACAGTGAGTAGATGTTCTACACAGTGTCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATGGAC... |
Task1_train_27502 | Chromosome 19 houses a mutation in gene PPP2R1A (protein phosphatase 2 scaffold subunit Aalpha). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | TCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATGGACCCCAGTGAAACTCCTTCAAGGACCCCTAAATAAGAACCTTTGTGGAAGGCACGCTGACAGAGACCTTCTGCTGGCTGGCATAATATTACGTTTTTCCTTTGAGTCATTCATTGCAACCATTTTTAAAGGCTATTTTAATGAAGGTCGGGATGGGTAATAGGGAAGTTTTCTCTGAGGAGATGAGCCCATGATGGGGTGCAGGATGGGGCTCCAGGGCTGCGGATGGTGGAGAGGGAGCTG... | TCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATGGACCCCAGTGAAACTCCTTCAAGGACCCCTAAATAAGAACCTTTGTGGAAGGCACGCTGACAGAGACCTTCTGCTGGCTGGCATAATATTACGTTTTTCCTTTGAGTCATTCATTGCAACCATTTTTAAAGGCTATTTTAATGAAGGTCGGGATGGGTAATAGGGAAGTTTTCTCTGAGGAGATGAGCCCATGATGGGGTGCAGGATGGGGCTCCAGGGCTGCGGATGGTGGAGAGGGAGCTG... |
Task1_train_27503 | A variant was discovered on Chromosome 19, affecting NLRP12 (NLR family pyrin domain containing 12). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Familial cold autoinflammatory syndrome 2 | AATTCTCCCAGACATCGACCTCAATTTAGTCCCAATGGGTGTTGTTTAGTCTTTGTGGCACTATTGACACTTTGGGGCCAGAGGGACTGTCCTGTGTACTGTAGGATGTTTGCAGCATTCCCGGCCTTTATCCACTAGATGTCAGTAGTATTATTTGCTTCCCAGTTGTGACCACCAAAAACGTGTCTCCAAACATCGCCAAATGTCAGAGCAAAATCACCCCCAGCTGAGAGGCACTGGTTAAGAGCATGAACCTCAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACACAGCGA... | AATTCTCCCAGACATCGACCTCAATTTAGTCCCAATGGGTGTTGTTTAGTCTTTGTGGCACTATTGACACTTTGGGGCCAGAGGGACTGTCCTGTGTACTGTAGGATGTTTGCAGCATTCCCGGCCTTTATCCACTAGATGTCAGTAGTATTATTTGCTTCCCAGTTGTGACCACCAAAAACGTGTCTCCAAACATCGCCAAATGTCAGAGCAAAATCACCCCCAGCTGAGAGGCACTGGTTAAGAGCATGAACCTCAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACACAGCGA... |
Task1_train_27504 | A change on Chromosome 19 affects gene PRKCG (protein kinase C gamma). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Spinocerebellar ataxia type 14 | AGATTCAGAGAGTCAGAGAGACATAGAAAGACATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAAACATAGAGATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAGACATAGAGAGACATTCATAGAGCCGGAGACACAGAGAGATTCAGAGTCAGAGAGACATAGATTTATAGAGCCAGAGACACAGATTCAGGGAGTCAGAGAGACATAGAGAGACATTCATAGAGCCGGAGACACAGATTCAGAGTCAGAGAGACATAGACATTCATAGAGCCAGAGACACAGATTCAGAGAGTCAGAG... | AGATTCAGAGAGTCAGAGAGACATAGAAAGACATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAAACATAGAGATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAGACATAGAGAGACATTCATAGAGCCGGAGACACAGAGAGATTCAGAGTCAGAGAGACATAGATTTATAGAGCCAGAGACACAGATTCAGGGAGTCAGAGAGACATAGAGAGACATTCATAGAGCCGGAGACACAGATTCAGAGTCAGAGAGACATAGACATTCATAGAGCCAGAGACACAGATTCAGAGAGTCAGAG... |
Task1_train_27505 | A variant was discovered in gene PRKCG (protein kinase C gamma), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | GAGAGACATAGAAAGACATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAAACATAGAGATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAGACATAGAGAGACATTCATAGAGCCGGAGACACAGAGAGATTCAGAGTCAGAGAGACATAGATTTATAGAGCCAGAGACACAGATTCAGGGAGTCAGAGAGACATAGAGAGACATTCATAGAGCCGGAGACACAGATTCAGAGTCAGAGAGACATAGACATTCATAGAGCCAGAGACACAGATTCAGAGAGTCAGAGAGATGAATAGATTCA... | GAGAGACATAGAAAGACATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAAACATAGAGATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAGACATAGAGAGACATTCATAGAGCCGGAGACACAGAGAGATTCAGAGTCAGAGAGACATAGATTTATAGAGCCAGAGACACAGATTCAGGGAGTCAGAGAGACATAGAGAGACATTCATAGAGCCGGAGACACAGATTCAGAGTCAGAGAGACATAGACATTCATAGAGCCAGAGACACAGATTCAGAGAGTCAGAGAGATGAATAGATTCA... |
Task1_train_27506 | This is a variant in PRKCG (protein kinase C gamma), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Spinocerebellar ataxia type 14 | AGCCGAAACCCCGCCCTCTCGGTCGTCCTGGCAACGCCTCCCCCAACCCGGGGCTCCCACATTTCAGCAGGTGCCGGAGCTGGAGCTCCCACCGCCGCCGCCCGTGCCTCCGGCTGCCGGCGCCCCTGCCTTTGGCTCTTCCTCCCCACTCGCCCGCTCCCCCTGGCGGAGCCGGCGCGCCCGGGGTGCCGCTCCCTGCCTGGCGCGCTCCGCACCTGGAGGTGCCTTGCCCCTCTCCTGCCCACCTCGGAATTTCCCTGTGGCTCCTTTGATCCTTCGAGTCTCCAGCTCCTCTCCCTTCCACCTGTTTCCCCCAAGAA... | AGCCGAAACCCCGCCCTCTCGGTCGTCCTGGCAACGCCTCCCCCAACCCGGGGCTCCCACATTTCAGCAGGTGCCGGAGCTGGAGCTCCCACCGCCGCCGCCCGTGCCTCCGGCTGCCGGCGCCCCTGCCTTTGGCTCTTCCTCCCCACTCGCCCGCTCCCCCTGGCGGAGCCGGCGCGCCCGGGGTGCCGCTCCCTGCCTGGCGCGCTCCGCACCTGGAGGTGCCTTGCCCCTCTCCTGCCCACCTCGGAATTTCCCTGTGGCTCCTTTGATCCTTCGAGTCTCCAGCTCCTCTCCCTTCCACCTGTTTCCCCCAAGAA... |
Task1_train_27507 | This alteration occurs within gene PRKCG (protein kinase C gamma) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | CGGATCACGAGGTCAGGAGATCCAAACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAG... | CGGATCACGAGGTCAGGAGATCCAAACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAG... |
Task1_train_27508 | Chromosome 19 houses a mutation in gene PRKCG (protein kinase C gamma). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Spinocerebellar ataxia type 14 | GATCACGAGGTCAGGAGATCCAAACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCG... | GATCACGAGGTCAGGAGATCCAAACCATCCTGGCTAACGCGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCG... |
Task1_train_27509 | A variant has been detected on Chromosome 19 in PRKCG (protein kinase C gamma). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Spinocerebellar ataxia type 14 | GCGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAG... | GCGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAG... |
Task1_train_27510 | Located on Chromosome 19, this mutation impacts PRKCG (protein kinase C gamma). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Spinocerebellar ataxia type 14 | TCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGG... | TCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGG... |
Task1_train_27511 | Here is a mutation in PRKCG (protein kinase C gamma) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Spinocerebellar ataxia type 14 | ATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAG... | ATACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAG... |
Task1_train_27512 | Chromosome 19 houses a mutation in gene PRKCG (protein kinase C gamma). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | TACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGG... | TACAAAAAATTAGCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGG... |
Task1_train_27513 | A mutation in PRKCG (protein kinase C gamma), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | GCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAAC... | GCCAGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAAC... |
Task1_train_27514 | A variant was discovered on Chromosome 19, affecting PRKCG (protein kinase C gamma). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | AGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCT... | AGGCACGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGTATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTAACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCT... |
Task1_train_27515 | Here is a variant affecting PRKCG (protein kinase C gamma) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Spinocerebellar ataxia type 14 | AACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTA... | AACATGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTA... |
Task1_train_27516 | A mutation in PRKCG (protein kinase C gamma), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Spinocerebellar ataxia type 14 | TGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGT... | TGGATCAAGATTTGGCAAGAATGATTTCATTTAGTCCCCAGGGAGGGCACATGCCCCCACTTTTCAAGCGGTAAATCTGAGGCTTTGAAAAGGGGCAGGCGTGGTGAGGCCACCTAGCTGGGTAGGGGATAGAGGCAAGATTTGAACTCTGATGTATGTAACCACAGCCTCCGTGCTGTCTCCTTTTTAACAGCGACGTTCACTTTTGAGAATAAGAACAGCAGCCTCTGTCTGTGGATGGTTTGTGTGTCAGGCAGCCTGCTGAGAACCTTCACACACAGCATCTTATTTAGTGCGGCAGGAACCCTTTGAGTTAGGGT... |
Task1_train_27517 | Given this context: Chromosome 19, gene PRKCG (protein kinase C gamma) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Spinocerebellar ataxia type 14 | GACTCTATCTCAGAAAAAAAAAAAAAAGAGAGAATGGGCTCTGCAGGAGACAAGGGTACCAGCGGGAGGACATTCTGAGCCAAAGAGGTAGAGTCTTTTGAGATCAGCAGGGATGATCCTCCCGTACAAACCCAAGAAACCCAGCAGGGCAGATGGTGGGCAAAGGCCTAGAGGCAGGGAGTGTAGGGTGGTGTGTGTGCCTGTTGTGGCTCACAGCACTCTCCCACAGTTCAGCAGGCACCACTTAATATTACCAATGAACACCAACTCTGTGCCAAGCCTTGAGCTAGGTACGGGGCTAACAACACAGCAAACAGAAA... | GACTCTATCTCAGAAAAAAAAAAAAAAGAGAGAATGGGCTCTGCAGGAGACAAGGGTACCAGCGGGAGGACATTCTGAGCCAAAGAGGTAGAGTCTTTTGAGATCAGCAGGGATGATCCTCCCGTACAAACCCAAGAAACCCAGCAGGGCAGATGGTGGGCAAAGGCCTAGAGGCAGGGAGTGTAGGGTGGTGTGTGTGCCTGTTGTGGCTCACAGCACTCTCCCACAGTTCAGCAGGCACCACTTAATATTACCAATGAACACCAACTCTGTGCCAAGCCTTGAGCTAGGTACGGGGCTAACAACACAGCAAACAGAAA... |
Task1_train_27518 | The gene PRKCG (protein kinase C gamma) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Spinocerebellar ataxia type 14 | GGGGCCGGGGTCCTGGCGGCCGGCCCCACTTCCTCACCCAGCTCCACTCCACCTTCCAGACCCCGGTAAGGATGGAGGGGGCGGAGGCTGTCCTCCGGGCCCTGCCTTATCCAGTTCTGGACATCTGCGTTGGGATTCTGAGTTTAGGGCGAGGCAAGAGAACTTTGTGCTCTCTGAGTGGGCGAGGCCAGGCGGATTGTCTCCTCAGGGGGCGTGGCCGGGGGGGGGTCCTTGGGGGGCGTGGCCAGGCGAAGGGACTCATCGGGGGGCGTGGCCAGGCGGAGGGGCTCAACGGAGGCGAGGCCGGGTGGAGGGGCTCC... | GGGGCCGGGGTCCTGGCGGCCGGCCCCACTTCCTCACCCAGCTCCACTCCACCTTCCAGACCCCGGTAAGGATGGAGGGGGCGGAGGCTGTCCTCCGGGCCCTGCCTTATCCAGTTCTGGACATCTGCGTTGGGATTCTGAGTTTAGGGCGAGGCAAGAGAACTTTGTGCTCTCTGAGTGGGCGAGGCCAGGCGGATTGTCTCCTCAGGGGGCGTGGCCGGGGGGGGGTCCTTGGGGGGCGTGGCCAGGCGAAGGGACTCATCGGGGGGCGTGGCCAGGCGGAGGGGCTCAACGGAGGCGAGGCCGGGTGGAGGGGCTCC... |
Task1_train_27519 | This genomic variant is located on Chromosome 19, within the PRKCG (protein kinase C gamma) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Spinocerebellar ataxia type 14 | ATGGAACAAACTGTCACCTACCCCAAGTCGCTTTCCCGGGAAGCCGTGGCCATCTGCAAGGGGGTGAGAGCCCCCTGACTCCCAGCTTCTCCAGGCTCACAACCACACACCCCATTGCTGTCTCTGTGCCTATTAGAAAAATGCTCCCATTCCTGAAGTCACTTTACTTCCATCTGTTGGAAAAGTTGATATGATGCATAGGTTTTGTTAGAACAATGATTTCCAGCCCTGTTGCCACGAGGCCTGGAGATGGCCTCTGTCTCATCCTTCTCTGTGACTCCCACTCCCCAGCTCCCTGCTTGCAGGAAGTGCTGAAAGTC... | ATGGAACAAACTGTCACCTACCCCAAGTCGCTTTCCCGGGAAGCCGTGGCCATCTGCAAGGGGGTGAGAGCCCCCTGACTCCCAGCTTCTCCAGGCTCACAACCACACACCCCATTGCTGTCTCTGTGCCTATTAGAAAAATGCTCCCATTCCTGAAGTCACTTTACTTCCATCTGTTGGAAAAGTTGATATGATGCATAGGTTTTGTTAGAACAATGATTTCCAGCCCTGTTGCCACGAGGCCTGGAGATGGCCTCTGTCTCATCCTTCTCTGTGACTCCCACTCCCCAGCTCCCTGCTTGCAGGAAGTGCTGAAAGTC... |
Task1_train_27520 | A genomic change on Chromosome 19 affects PRPF31 (pre-mRNA processing factor 31). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | TTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCGCCTCCCGGATTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGATGATCCACCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCGGCCTTTTACAGCCTGTTTACCCAAAAGTCTTAATATGCGCCTACCATGG... | TTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCGCCTCCCGGATTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGATGATCCACCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCGGCCTTTTACAGCCTGTTTACCCAAAAGTCTTAATATGCGCCTACCATGG... |
Task1_train_27521 | A variant found in Chromosome 19 affects PRPF31 (pre-mRNA processing factor 31). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Retinitis pigmentosa 11 | CTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACA... | CTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACA... |
Task1_train_27522 | The gene PRPF31 (pre-mRNA processing factor 31) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Retinitis pigmentosa 11 | GGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGG... | GGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGG... |
Task1_train_27523 | This sequence variant lies in CNOT3 (CCR4-NOT transcription complex subunit 3) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | TGGATAGCACTGTTTGCCAGATGTTCCCTTCTTTGTGGGTGAGGACTCTTTTGGTGTGACTTCCCTCTGTATTGAGGCTCTTGTTCCTCAGTATGGGGCTGTTTCTGTCTTTACAGTAAGTGACTACTCCAGGGTTCCCTGCCCTGCACACGTAGAGTGGGAGCGGCCCGTGGATCCCAGGGAACTGTGCTTTTCATTGTAGGCCCCCTCCCTGGAGGGGAAGAGGGCAATCTCCGCTGGTATCTCAGAAGTCTTCTTCTGAGGCATAAGCCTCTCTTCCCAGGGCTCCCCTGGTCTCGCTGTCAGGCCCTAAGGTATGT... | TGGATAGCACTGTTTGCCAGATGTTCCCTTCTTTGTGGGTGAGGACTCTTTTGGTGTGACTTCCCTCTGTATTGAGGCTCTTGTTCCTCAGTATGGGGCTGTTTCTGTCTTTACAGTAAGTGACTACTCCAGGGTTCCCTGCCCTGCACACGTAGAGTGGGAGCGGCCCGTGGATCCCAGGGAACTGTGCTTTTCATTGTAGGCCCCCTCCCTGGAGGGGAAGAGGGCAATCTCCGCTGGTATCTCAGAAGTCTTCTTCTGAGGCATAAGCCTCTCTTCCCAGGGCTCCCCTGGTCTCGCTGTCAGGCCCTAAGGTATGT... |
Task1_train_27524 | A variant was discovered on Chromosome 19, affecting MBOAT7 (membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Intellectual disability, autosomal recessive 57 | ATGCAGCTCAGCCAGGCCCCCTCCCGACGCCTGCTAGTGTCCCAGCCCCGGATGCTAAGGAAGGGATCCTGGCCAGGCAATGGCCCTCTGGCTGTCAGACTTGCTAGGGCAGCAAGGGAGGGTGGCCCAGAGGGTGCCTGTAGGGTAGGAAGGTGGGTGGGCTGGGTGGTACAGTCCACTGACAATGGGGTTCTTCTTCTTTTGGTACCTAATGGGGCCCGCCACAGCCATGAAAAGCCTTGAAGGGCTATGGTTGCTAAGCTATGAGTCCTTTAGCAACCAAGCTCAGTATATTCAGAGAAGCCGCCAAGGATGGTCCC... | ATGCAGCTCAGCCAGGCCCCCTCCCGACGCCTGCTAGTGTCCCAGCCCCGGATGCTAAGGAAGGGATCCTGGCCAGGCAATGGCCCTCTGGCTGTCAGACTTGCTAGGGCAGCAAGGGAGGGTGGCCCAGAGGGTGCCTGTAGGGTAGGAAGGTGGGTGGGCTGGGTGGTACAGTCCACTGACAATGGGGTTCTTCTTCTTTTGGTACCTAATGGGGCCCGCCACAGCCATGAAAAGCCTTGAAGGGCTATGGTTGCTAAGCTATGAGTCCTTTAGCAACCAAGCTCAGTATATTCAGAGAAGCCGCCAAGGATGGTCCC... |
Task1_train_27525 | A variant on Chromosome 19 in gene TSEN34 (tRNA splicing endonuclease subunit 34) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Pontocerebellar hypoplasia type 2C | CCACGGTCAGGGCCCCGGGCGGGCAGGGAAGAAGCCCCGGAGCAGAAGCCGAGAGCGCGAGTCGGCAACGGGATTCGAGTCCAGGTCCACACTGGGATCCGAGCTCCGAGTACGTGAAGGGGCGGGCCTTCGGGCTCGGAACAAGGAGGAGCCAAAAGCTTTGGACCCGAAGGGGAACAGACGGGCTCTGGAAAGGAGGCGGGGTCTGGAGCTCGGCGTGAGGAATGAGGCGGGGTCTCCCTTCGGGTTCCTTCGGGCACAATCGGGAGCTTGAGTTCTCCGGAAGCGGGGCCACAAACTTCGGCTCACTTCGGCAATAG... | CCACGGTCAGGGCCCCGGGCGGGCAGGGAAGAAGCCCCGGAGCAGAAGCCGAGAGCGCGAGTCGGCAACGGGATTCGAGTCCAGGTCCACACTGGGATCCGAGCTCCGAGTACGTGAAGGGGCGGGCCTTCGGGCTCGGAACAAGGAGGAGCCAAAAGCTTTGGACCCGAAGGGGAACAGACGGGCTCTGGAAAGGAGGCGGGGTCTGGAGCTCGGCGTGAGGAATGAGGCGGGGTCTCCCTTCGGGTTCCTTCGGGCACAATCGGGAGCTTGAGTTCTCCGGAAGCGGGGCCACAAACTTCGGCTCACTTCGGCAATAG... |
Task1_train_27526 | This variant impacts the gene NCR1, NLRP7 (natural cytotoxicity triggering receptor 1| NLR family pyrin domain containing 7) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hydatidiform mole, recurrent, 1 | CAGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGAACTCAGATGATCCGCCCACCTCTCTGCTGAGATTACAGGCAGGAGCCACCGTGCCGGGCCTGAAGCAGGTGTTTATTTCAGCAAGAGGCGCCACGTGGGTGGCGCAGTAAGTCAGGTGTTACCCTTTCTCTTCTATAGCCCCAGAACTAAACCAGAGCTGCCCATGGGAAGAGGAGACTTACGACAACATCTGCAGGAAGTGTTTTGGGCGTGTCATGGTCTTGTACAGCAACATGGCACCCTCATCCAGGAGCACATTGGCTGAGAGACGCAGGTGC... | CAGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGAACTCAGATGATCCGCCCACCTCTCTGCTGAGATTACAGGCAGGAGCCACCGTGCCGGGCCTGAAGCAGGTGTTTATTTCAGCAAGAGGCGCCACGTGGGTGGCGCAGTAAGTCAGGTGTTACCCTTTCTCTTCTATAGCCCCAGAACTAAACCAGAGCTGCCCATGGGAAGAGGAGACTTACGACAACATCTGCAGGAAGTGTTTTGGGCGTGTCATGGTCTTGTACAGCAACATGGCACCCTCATCCAGGAGCACATTGGCTGAGAGACGCAGGTGC... |
Task1_train_27527 | This variant lies on Chromosome 19 and affects the gene NCR1, NLRP7 (natural cytotoxicity triggering receptor 1| NLR family pyrin domain containing 7). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hydatidiform mole, recurrent, 1 | GGGGTGTTTCTTTGCATGGATAGCTGGTTATGCAACACAGAAGACAAGCTGGTGGGGGAAAGAGGAGAGGCCGACTCCCCCACACAGGCCTGTTTGAGGAATACATTCCCTGTCTGGGACGGCATCTGGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCAGCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGG... | GGGGTGTTTCTTTGCATGGATAGCTGGTTATGCAACACAGAAGACAAGCTGGTGGGGGAAAGAGGAGAGGCCGACTCCCCCACACAGGCCTGTTTGAGGAATACATTCCCTGTCTGGGACGGCATCTGGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCAGCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGG... |
Task1_train_27528 | A variant was discovered on Chromosome 19, affecting NCR1, NLRP7 (natural cytotoxicity triggering receptor 1| NLR family pyrin domain containing 7). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hydatidiform mole, recurrent, 1 | GGGGTGTTTCTTTGCATGGATAGCTGGTTATGCAACACAGAAGACAAGCTGGTGGGGGAAAGAGGAGAGGCCGACTCCCCCACACAGGCCTGTTTGAGGAATACATTCCCTGTCTGGGACGGCATCTGGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCAGCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGG... | GGGGTGTTTCTTTGCATGGATAGCTGGTTATGCAACACAGAAGACAAGCTGGTGGGGGAAAGAGGAGAGGCCGACTCCCCCACACAGGCCTGTTTGAGGAATACATTCCCTGTCTGGGACGGCATCTGGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCAGCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGG... |
Task1_train_27529 | Given this variant in gene NCR1, NLRP7 (natural cytotoxicity triggering receptor 1| NLR family pyrin domain containing 7) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hydatidiform mole, recurrent, 1 | GGGTGTTTCTTTGCATGGATAGCTGGTTATGCAACACAGAAGACAAGCTGGTGGGGGAAAGAGGAGAGGCCGACTCCCCCACACAGGCCTGTTTGAGGAATACATTCCCTGTCTGGGACGGCATCTGGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCAGCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGGT... | GGGTGTTTCTTTGCATGGATAGCTGGTTATGCAACACAGAAGACAAGCTGGTGGGGGAAAGAGGAGAGGCCGACTCCCCCACACAGGCCTGTTTGAGGAATACATTCCCTGTCTGGGACGGCATCTGGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCAGCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGGT... |
Task1_train_27530 | This is a variant in NLRP7 (NLR family pyrin domain containing 7), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Hydatidiform mole, recurrent, 1 | GGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCAGCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGGTCTTCTTCCCAATGAAAGCAAGACAGAAGTCCCGGTACGCGGTGTCAGGGGTGACGTTTTTAATCCTAGGGAAAAGCAGAAGAGATTCCACTTGGAGTGATTAATACTCACATTGTGTGGAGGCATG... | GGAGTGGTTACCCTTTTTCCTAGATCCCCCAGCAACACGGTGCAGTGGACTCCAGGTGCTGGGGAGAGCCGTGACCGTGAGACCCACCTCAGGTACTGCAGGTTGCATTTATGATTTCTGAGCAGGTCACACAGCATCAGCATCATCGTGCGTTCCCACTCGATGTGCCCTGCCAGGGTCAGGTGCGTGAGGGTCTTCTTCCCAATGAAAGCAAGACAGAAGTCCCGGTACGCGGTGTCAGGGGTGACGTTTTTAATCCTAGGGAAAAGCAGAAGAGATTCCACTTGGAGTGATTAATACTCACATTGTGTGGAGGCATG... |
Task1_train_27531 | This sequence change occurs on Chromosome 19, altering NLRP7 (NLR family pyrin domain containing 7). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hydatidiform mole, recurrent, 1 | TGAAACTCTGTCTCAGAAAAAATAAAAAATAAAAAAGGGGCCAGGTGCAGCGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCCGAGGCAGGCAAATCACCTGAGGTCAGGAGCTCGAGATCAGCCTGGGCAACACGGTGAAAACCTGTCTGTGCTAAAAGTACAAAATTAGCCGGGCAAGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGATGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTAAATCTCCGTCTC... | TGAAACTCTGTCTCAGAAAAAATAAAAAATAAAAAAGGGGCCAGGTGCAGCGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCCGAGGCAGGCAAATCACCTGAGGTCAGGAGCTCGAGATCAGCCTGGGCAACACGGTGAAAACCTGTCTGTGCTAAAAGTACAAAATTAGCCGGGCAAGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGATGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTAAATCTCCGTCTC... |
Task1_train_27532 | This mutation is located in gene GP6 (glycoprotein VI platelet) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not specified | ATTAGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCAGAGGTTGCAGTGATCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACGCAGTAAGACTCCATCTGAAAAAAAAAGGCTTAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGCAGATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACGAAAAATACAAAAATTAGCTGGGCATGATGGCAGGTG... | ATTAGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCAGAGGTTGCAGTGATCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACGCAGTAAGACTCCATCTGAAAAAAAAAGGCTTAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGCAGATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACGAAAAATACAAAAATTAGCTGGGCATGATGGCAGGTG... |
Task1_train_27533 | This variant affects gene TNNT1 (troponin T1, slow skeletal type) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Nemaline myopathy 5B, autosomal recessive, childhood-onset | AAAAAAAAAAGCTGGGCATGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGAGGATCAGCTGAGGTCAGGAGTCTGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGTTGGTGGGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGACAGGAAAATTGCTTGAACCCGGGAGGTGGAGGTTGCGGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGATGCTGCGG... | AAAAAAAAAAGCTGGGCATGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGAGGATCAGCTGAGGTCAGGAGTCTGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGTTGGTGGGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGACAGGAAAATTGCTTGAACCCGGGAGGTGGAGGTTGCGGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGATGCTGCGG... |
Task1_train_27534 | Located on Chromosome 19, this mutation impacts TNNT1 (troponin T1, slow skeletal type). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Nemaline myopathy 5B, autosomal recessive, childhood-onset | CAGCTAATTTTTGTATTTTTAGTACAAACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAGGTGATCCACTTGTCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCATCGCGCCTAAACTTAGTTTCCTATCACTGCTGTAATTTGCAAATTTAGTGGCAGAAAAACAATGCAGATTTGTTATCTTACAGCTCTGCAGATCAGACATCTGAAATTGGTCCCCCTGGGCTGGAATCAAGTTGTGAACAGAACCAATTTATTCTGGAGGTTCTAGGGGAGAATTCATTCCCTTCCCTTTTC... | CAGCTAATTTTTGTATTTTTAGTACAAACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAGGTGATCCACTTGTCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCATCGCGCCTAAACTTAGTTTCCTATCACTGCTGTAATTTGCAAATTTAGTGGCAGAAAAACAATGCAGATTTGTTATCTTACAGCTCTGCAGATCAGACATCTGAAATTGGTCCCCCTGGGCTGGAATCAAGTTGTGAACAGAACCAATTTATTCTGGAGGTTCTAGGGGAGAATTCATTCCCTTCCCTTTTC... |
Task1_train_27535 | Here is a genetic alteration in TNNT1 (troponin T1, slow skeletal type) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; TNNT1-related disorder | CAGCTAATTTTTGTATTTTTAGTACAAACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAGGTGATCCACTTGTCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCATCGCGCCTAAACTTAGTTTCCTATCACTGCTGTAATTTGCAAATTTAGTGGCAGAAAAACAATGCAGATTTGTTATCTTACAGCTCTGCAGATCAGACATCTGAAATTGGTCCCCCTGGGCTGGAATCAAGTTGTGAACAGAACCAATTTATTCTGGAGGTTCTAGGGGAGAATTCATTCCCTTCCCTTTTC... | CAGCTAATTTTTGTATTTTTAGTACAAACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAGGTGATCCACTTGTCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCATCGCGCCTAAACTTAGTTTCCTATCACTGCTGTAATTTGCAAATTTAGTGGCAGAAAAACAATGCAGATTTGTTATCTTACAGCTCTGCAGATCAGACATCTGAAATTGGTCCCCCTGGGCTGGAATCAAGTTGTGAACAGAACCAATTTATTCTGGAGGTTCTAGGGGAGAATTCATTCCCTTCCCTTTTC... |
Task1_train_27536 | This gene mutation involves LOC130065089, TNNT1 (ATAC-STARR-seq lymphoblastoid active region 15077| troponin T1, slow skeletal type) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Nemaline myopathy 5C, autosomal dominant | GTCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCATCGCGCCTAAACTTAGTTTCCTATCACTGCTGTAATTTGCAAATTTAGTGGCAGAAAAACAATGCAGATTTGTTATCTTACAGCTCTGCAGATCAGACATCTGAAATTGGTCCCCCTGGGCTGGAATCAAGTTGTGAACAGAACCAATTTATTCTGGAGGTTCTAGGGGAGAATTCATTCCCTTCCCTTTTCCAGCTGCTGCCTGCATGTCTGGGCCCATGGACCTTCTTTCATCTTCAGAGGCAGCCATGCAGCATCTTCAAATCTCTCAGTCTGACCCTCTGG... | GTCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCATCGCGCCTAAACTTAGTTTCCTATCACTGCTGTAATTTGCAAATTTAGTGGCAGAAAAACAATGCAGATTTGTTATCTTACAGCTCTGCAGATCAGACATCTGAAATTGGTCCCCCTGGGCTGGAATCAAGTTGTGAACAGAACCAATTTATTCTGGAGGTTCTAGGGGAGAATTCATTCCCTTCCCTTTTCCAGCTGCTGCCTGCATGTCTGGGCCCATGGACCTTCTTTCATCTTCAGAGGCAGCCATGCAGCATCTTCAAATCTCTCAGTCTGACCCTCTGG... |
Task1_train_27537 | The gene TNNI3 (troponin I3, cardiac type) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | GGGGGAGGGTGGGGTGTCAATTAGGGTGAAACCTACCCTCCCTCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTG... | GGGGGAGGGTGGGGTGTCAATTAGGGTGAAACCTACCCTCCCTCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTG... |
Task1_train_27538 | Here is a genetic alteration in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | GGGGAGGGTGGGGTGTCAATTAGGGTGAAACCTACCCTCCCTCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGC... | GGGGAGGGTGGGGTGTCAATTAGGGTGAAACCTACCCTCCCTCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGC... |
Task1_train_27539 | This gene mutation involves TNNI3 (troponin I3, cardiac type) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hypertrophic cardiomyopathy 7 | GGGGAGGGTGGGGTGTCAATTAGGGTGAAACCTACCCTCCCTCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGC... | GGGGAGGGTGGGGTGTCAATTAGGGTGAAACCTACCCTCCCTCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGC... |
Task1_train_27540 | Here is a genetic alteration in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hypertrophic cardiomyopathy 7 | GGGGTGTCAATTAGGGTGAAACCTACCCTCCCTCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTG... | GGGGTGTCAATTAGGGTGAAACCTACCCTCCCTCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTG... |
Task1_train_27541 | A variant has been detected on Chromosome 19 in TNNI3 (troponin I3, cardiac type). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Restrictive cardiomyopathy | TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTT... | TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTT... |
Task1_train_27542 | This gene mutation involves TNNI3 (troponin I3, cardiac type) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hypertrophic cardiomyopathy | TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTT... | TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTT... |
Task1_train_27543 | A change on Chromosome 19 affects gene TNNI3 (troponin I3, cardiac type). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cardiovascular phenotype | TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTT... | TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTT... |
Task1_train_27544 | Mutation context: Chromosome 19, Gene TNNI3 (troponin I3, cardiac type). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Dilated cardiomyopathy 2A | TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTT... | TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTT... |
Task1_train_27545 | This sequence variant lies in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cardiomyopathy, familial restrictive, 1 | TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTT... | TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTT... |
Task1_train_27546 | This variant lies on Chromosome 19 and affects the gene TNNI3 (troponin I3, cardiac type). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypertrophic cardiomyopathy | TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTT... | TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTT... |
Task1_train_27547 | This variant lies on Chromosome 19 and affects the gene TNNI3 (troponin I3, cardiac type). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; SUDDEN INFANT DEATH SYNDROME | TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTT... | TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTT... |
Task1_train_27548 | Here is a variant affecting TNNI3 (troponin I3, cardiac type) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Restrictive cardiomyopathy | TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTT... | TCCCCACCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTT... |
Task1_train_27549 | The gene TNNI3 (troponin I3, cardiac type) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cardiomyopathy, familial restrictive, 1 | CCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTC... | CCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTC... |
Task1_train_27550 | The gene TNNI3 (troponin I3, cardiac type) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hypertrophic cardiomyopathy 7 | CCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTC... | CCTCCATCTAACGCTGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTC... |
Task1_train_27551 | Given this context: Chromosome 19, gene TNNI3 (troponin I3, cardiac type) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Dilated cardiomyopathy 1FF | TGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACA... | TGATCTTTTTTGGTATCCCCCTCCCGCTTCCCAGCCAAGCCATGACCTTGAGTTCTAGGTTCAAGCCAGCCCTGGAGAGCAGGCTTCCTCACCCTCCCCGCCTCTCCGTACCTCTGTCTCTGGTGGTCTCGGTCTTTGTGTTTCTGTGCATTTCTCGGGGCCCCTTGCTGGGTCTGTCTTGGGCTCTCTCTGCATCTGTCGCTTTCTGAGCCCCTCAGTGTGTTTCTCGGCATGTGTCTCCGGGTGGTTTTGTCTCTGCATTTCTGTGGGTGTCTCTGCATGTCTGCCCCTCTCAGCGTTTGTGTCTGTGGGGGCTCACA... |
Task1_train_27552 | A variant on Chromosome 19 in gene TNNI3 (troponin I3, cardiac type) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hypertrophic cardiomyopathy | TGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCC... | TGTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCC... |
Task1_train_27553 | This mutation occurs in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | GTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCT... | GTCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCT... |
Task1_train_27554 | Here is a mutation in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | TCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTT... | TCTTCCCTCCAGCCTGTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTT... |
Task1_train_27555 | A variant found in Chromosome 19 affects TNNI3 (troponin I3, cardiac type). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hypertrophic cardiomyopathy 7 | GTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATT... | GTGGGGCCACTCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATT... |
Task1_train_27556 | A variant has been detected on Chromosome 19 in TNNI3 (troponin I3, cardiac type). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Restrictive cardiomyopathy | TCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCC... | TCTACCCTGGATGCCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCC... |
Task1_train_27557 | A variant has been detected on Chromosome 19 in TNNI3 (troponin I3, cardiac type). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hypertrophic cardiomyopathy | CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCA... | CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCA... |
Task1_train_27558 | A variant was discovered in gene TNNI3 (troponin I3, cardiac type), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hypertrophic cardiomyopathy | CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCA... | CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCA... |
Task1_train_27559 | A change on Chromosome 19 affects gene TNNI3 (troponin I3, cardiac type). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Restrictive cardiomyopathy | CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCA... | CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCA... |
Task1_train_27560 | A mutation in TNNI3 (troponin I3, cardiac type), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hypertrophic cardiomyopathy | CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCA... | CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCA... |
Task1_train_27561 | Gene TNNI3 (troponin I3, cardiac type), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cardiovascular phenotype | CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCA... | CCTAAGTATCTAGTTCTGGAGCACTTCCTGTCTTTTCAAGATAATCCCTGCCAATTTTCCCCATGCACTTCCTGTCTCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCA... |
Task1_train_27562 | A mutation found in TNNI3 (troponin I3, cardiac type) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cardiomyopathy | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... |
Task1_train_27563 | This genomic variant is located on Chromosome 19, within the TNNI3 (troponin I3, cardiac type) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; SUDDEN INFANT DEATH SYNDROME | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... |
Task1_train_27564 | A mutation found in TNNI3 (troponin I3, cardiac type) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hypertrophic cardiomyopathy | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... |
Task1_train_27565 | This variant lies on Chromosome 19 and affects the gene TNNI3 (troponin I3, cardiac type). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypertrophic cardiomyopathy | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... |
Task1_train_27566 | This variant impacts the gene TNNI3 (troponin I3, cardiac type) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Restrictive cardiomyopathy | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... |
Task1_train_27567 | This variant affects the gene TNNI3 (troponin I3, cardiac type) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hypertrophic cardiomyopathy 7 | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... |
Task1_train_27568 | This genomic variant is located on Chromosome 19, within the TNNI3 (troponin I3, cardiac type) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cardiomyopathy, familial restrictive, 1 | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... |
Task1_train_27569 | Here is a variant affecting TNNI3 (troponin I3, cardiac type) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Dilated cardiomyopathy 2A | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... |
Task1_train_27570 | This genomic variant is located on Chromosome 19, within the TNNI3 (troponin I3, cardiac type) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Dilated cardiomyopathy 1FF | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... |
Task1_train_27571 | This mutation occurs in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypertrophic cardiomyopathy | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... |
Task1_train_27572 | This mutation occurs in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cardiomyopathy | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... |
Task1_train_27573 | Given this variant in gene TNNI3 (troponin I3, cardiac type) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hypertrophic cardiomyopathy 7 | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... |
Task1_train_27574 | Here is a genetic alteration in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cardiovascular phenotype | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... | TCCCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAA... |
Task1_train_27575 | The gene TNNI3 (troponin I3, cardiac type) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Cardiomyopathy, familial restrictive, 1 | CCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAAC... | CCTCATGCACTTCCTGTCCCCCTCATGCACTTCCTGTCTTTCCCCAGCACTTCCTGTCTCCCTCATGTACTTTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAAC... |
Task1_train_27576 | A variant found in Chromosome 19 affects TNNI3 (troponin I3, cardiac type). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Cardiomyopathy, familial restrictive, 1 | CTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGG... | CTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGG... |
Task1_train_27577 | A mutation in TNNI3 (troponin I3, cardiac type), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Dilated cardiomyopathy 1FF | GGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCT... | GGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCT... |
Task1_train_27578 | Here’s a variant in TNNI3 (troponin I3, cardiac type) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hypertrophic cardiomyopathy | GAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAG... | GAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAG... |
Task1_train_27579 | An alteration has been detected in TNNI3 (troponin I3, cardiac type) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cardiovascular phenotype | GAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAG... | GAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAG... |
Task1_train_27580 | A variant was discovered in gene DNAAF3, DNAAF3-AS1 (dynein axonemal assembly factor 3| DNAAF3 antisense RNA 1), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Primary ciliary dyskinesia | TCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGA... | TCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGA... |
Task1_train_27581 | Gene DNAAF3, DNAAF3-AS1 (dynein axonemal assembly factor 3| DNAAF3 antisense RNA 1) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Primary ciliary dyskinesia 2 | CCCTGGGTCATTAATGACTGATATGGTTTGGATCTGTGTCCCTGCTTAAATCTCATGTTGAATTGTAATCCCCAATATTGGAGGCGGGGCCTGGTGGGAGGTGATTGGGTCACAGGGGCAGATTTCTCCCTTGCTGTTCTCGTGATAGTGAGTTCCCACAAAATCTGGTTATTTGCAAGTGTGCGCCTCTTCCCCACTGCCTCTCTTGCCCCTTTTCCTGCCGTGGAACAGATGCCTGCATCCCCTTCGCCTCCTGTCATGATTGTAAGTTTCCTGAGGCCTTCCCAGCCATACTCCCTGTACAGCCTGTGGAACTGTGA... | CCCTGGGTCATTAATGACTGATATGGTTTGGATCTGTGTCCCTGCTTAAATCTCATGTTGAATTGTAATCCCCAATATTGGAGGCGGGGCCTGGTGGGAGGTGATTGGGTCACAGGGGCAGATTTCTCCCTTGCTGTTCTCGTGATAGTGAGTTCCCACAAAATCTGGTTATTTGCAAGTGTGCGCCTCTTCCCCACTGCCTCTCTTGCCCCTTTTCCTGCCGTGGAACAGATGCCTGCATCCCCTTCGCCTCCTGTCATGATTGTAAGTTTCCTGAGGCCTTCCCAGCCATACTCCCTGTACAGCCTGTGGAACTGTGA... |
Task1_train_27582 | A variant found in Chromosome 19 affects AURKC (aurora kinase C). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Infertility associated with multi-tailed spermatozoa and excessive DNA | AACTCCACTGCCTTATGTAAAGAAACATATTGAAAGGCTCTGAAGGAGTTCACTGAATAAATAGCTAGAACTGGCTTAGAGATAGGTACAAAGAGATTTCTAGAGGGTTCCGGAAAGGGAACCATGGCAATGATTTTCCCAGGAGCAATGGTCCAATCAGCTTGCTGTGTCAGGATGAGTGGTCTTCCATCTTTCCTCCTGTTTCTGTTTCACTTCCTCGGGCCTCAAGTCCTGTGAGAGATCATCTGAGTGGCTCAATGTAGGTTCTATGTCTGGCTACTTGCTGTGCTAGGACAACAGGGAGGATCTGTGTCCATGTT... | AACTCCACTGCCTTATGTAAAGAAACATATTGAAAGGCTCTGAAGGAGTTCACTGAATAAATAGCTAGAACTGGCTTAGAGATAGGTACAAAGAGATTTCTAGAGGGTTCCGGAAAGGGAACCATGGCAATGATTTTCCCAGGAGCAATGGTCCAATCAGCTTGCTGTGTCAGGATGAGTGGTCTTCCATCTTTCCTCCTGTTTCTGTTTCACTTCCTCGGGCCTCAAGTCCTGTGAGAGATCATCTGAGTGGCTCAATGTAGGTTCTATGTCTGGCTACTTGCTGTGCTAGGACAACAGGGAGGATCTGTGTCCATGTT... |
Task1_train_27583 | Assess the clinical impact of this variant on gene RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1), found on Chromosome 20. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Glycogen storage disease, type IV | CTTTGCACACAATAAAATGTACTCATTGTAAGTATGCAGTCAGGTAAATTTTAACAAATGTAACTCTCGTAACCACCAACCACTGTTACATATAACATAGGCATGATTTCTGCCTCATTGTAACCAGCATGGATACAATCGCTTTAGCTTTTGTTATTTTGCTATAGAATTTTTCTAAAGATTATTACAAATCTCAATAGCACATATACTGTTTATACCTCTTAGTTCTAGTTTCTCAGTTTGTAATACTCCTTCAAGGAATGTTTTGCATGGTGTATTCTTTTTTTTTTTTTTTTTTGAGACGAAGTCTCACTCTGTTG... | CTTTGCACACAATAAAATGTACTCATTGTAAGTATGCAGTCAGGTAAATTTTAACAAATGTAACTCTCGTAACCACCAACCACTGTTACATATAACATAGGCATGATTTCTGCCTCATTGTAACCAGCATGGATACAATCGCTTTAGCTTTTGTTATTTTGCTATAGAATTTTTCTAAAGATTATTACAAATCTCAATAGCACATATACTGTTTATACCTCTTAGTTCTAGTTTCTCAGTTTGTAATACTCCTTCAAGGAATGTTTTGCATGGTGTATTCTTTTTTTTTTTTTTTTTTGAGACGAAGTCTCACTCTGTTG... |
Task1_train_27584 | Here is a mutation in RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1) on Chromosome 20. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Polyglucosan body myopathy type 1 | CTTTGCACACAATAAAATGTACTCATTGTAAGTATGCAGTCAGGTAAATTTTAACAAATGTAACTCTCGTAACCACCAACCACTGTTACATATAACATAGGCATGATTTCTGCCTCATTGTAACCAGCATGGATACAATCGCTTTAGCTTTTGTTATTTTGCTATAGAATTTTTCTAAAGATTATTACAAATCTCAATAGCACATATACTGTTTATACCTCTTAGTTCTAGTTTCTCAGTTTGTAATACTCCTTCAAGGAATGTTTTGCATGGTGTATTCTTTTTTTTTTTTTTTTTTGAGACGAAGTCTCACTCTGTTG... | CTTTGCACACAATAAAATGTACTCATTGTAAGTATGCAGTCAGGTAAATTTTAACAAATGTAACTCTCGTAACCACCAACCACTGTTACATATAACATAGGCATGATTTCTGCCTCATTGTAACCAGCATGGATACAATCGCTTTAGCTTTTGTTATTTTGCTATAGAATTTTTCTAAAGATTATTACAAATCTCAATAGCACATATACTGTTTATACCTCTTAGTTCTAGTTTCTCAGTTTGTAATACTCCTTCAAGGAATGTTTTGCATGGTGTATTCTTTTTTTTTTTTTTTTTTGAGACGAAGTCTCACTCTGTTG... |
Task1_train_27585 | Here is a variant affecting CSNK2A1 (casein kinase 2 alpha 1) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | AAGTGACCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCCTGCATCTTGCGTTTTAAATTTCACATTATTATATTGGAGTTGGAGATCTAACAGAACATGAAACTCTTATTCTACTGGCTGCACCACATTCCATTAAATGGATATACCATAACTGATTTAACCAGTTTCCTACTGATAGCTATTCTCAATGTTTTGTTATTACAAATAAGGCTACAAGTAAGTTTGGATATACATTACTCTGTACAGAGGTAGGATACTCAAGGGGTAAATTCTAGAAGGCAGTTAGTTCTTT... | AAGTGACCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCCTGCATCTTGCGTTTTAAATTTCACATTATTATATTGGAGTTGGAGATCTAACAGAACATGAAACTCTTATTCTACTGGCTGCACCACATTCCATTAAATGGATATACCATAACTGATTTAACCAGTTTCCTACTGATAGCTATTCTCAATGTTTTGTTATTACAAATAAGGCTACAAGTAAGTTTGGATATACATTACTCTGTACAGAGGTAGGATACTCAAGGGGTAAATTCTAGAAGGCAGTTAGTTCTTT... |
Task1_train_27586 | Here is a genetic alteration in CSNK2A1 (casein kinase 2 alpha 1) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | ACAGGCATGACCCACCGTGCCTGGCTAGTTTTTTCTTTTTTTTTTTTTTTTAGTTTTTTTTTTAGTTTTTTCTTTTATGCATCTTTCACTCGGTTTTAAAACAATTTTTACTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGCAGGGGTGTGATCTTGGCTCATTGCAACTCAGCTTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCGCCCACCACCGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTG... | ACAGGCATGACCCACCGTGCCTGGCTAGTTTTTTCTTTTTTTTTTTTTTTTAGTTTTTTTTTTAGTTTTTTCTTTTATGCATCTTTCACTCGGTTTTAAAACAATTTTTACTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGCAGGGGTGTGATCTTGGCTCATTGCAACTCAGCTTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCGCCCACCACCGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTG... |
Task1_train_27587 | The variant affects gene CSNK2A1 (casein kinase 2 alpha 1), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Okur-Chung neurodevelopmental syndrome | AGGCATGACCCACCGTGCCTGGCTAGTTTTTTCTTTTTTTTTTTTTTTTAGTTTTTTTTTTAGTTTTTTCTTTTATGCATCTTTCACTCGGTTTTAAAACAATTTTTACTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGCAGGGGTGTGATCTTGGCTCATTGCAACTCAGCTTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCGCCCACCACCGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGT... | AGGCATGACCCACCGTGCCTGGCTAGTTTTTTCTTTTTTTTTTTTTTTTAGTTTTTTTTTTAGTTTTTTCTTTTATGCATCTTTCACTCGGTTTTAAAACAATTTTTACTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGCAGGGGTGTGATCTTGGCTCATTGCAACTCAGCTTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCGCCCACCACCGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGT... |
Task1_train_27588 | Given this context: Chromosome 20, gene CSNK2A1 (casein kinase 2 alpha 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | GGCATGACCCACCGTGCCTGGCTAGTTTTTTCTTTTTTTTTTTTTTTTAGTTTTTTTTTTAGTTTTTTCTTTTATGCATCTTTCACTCGGTTTTAAAACAATTTTTACTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGCAGGGGTGTGATCTTGGCTCATTGCAACTCAGCTTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCGCCCACCACCGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTC... | GGCATGACCCACCGTGCCTGGCTAGTTTTTTCTTTTTTTTTTTTTTTTAGTTTTTTTTTTAGTTTTTTCTTTTATGCATCTTTCACTCGGTTTTAAAACAATTTTTACTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGCAGGGGTGTGATCTTGGCTCATTGCAACTCAGCTTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCGCCCACCACCGCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTC... |
Task1_train_27589 | A mutation found in CSNK2A1 (casein kinase 2 alpha 1) on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Okur-Chung neurodevelopmental syndrome | CATATGTAAGTTGATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCC... | CATATGTAAGTTGATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCC... |
Task1_train_27590 | This variant lies on Chromosome 20 and affects the gene CSNK2A1 (casein kinase 2 alpha 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | TAAGTTGATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCCCCATTT... | TAAGTTGATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCCCCATTT... |
Task1_train_27591 | A mutation in CSNK2A1 (casein kinase 2 alpha 1), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Okur-Chung neurodevelopmental syndrome | ATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCCCCATTTTTTTTTT... | ATATAATCTCCTCAACAAGATATAGAACTGTTCCATCACCACACACATGTCCTGTGTGTTAGCCCAACCCCTGGCAACCCCTCTGCTCTTTATCTCTATCATTTTGAGAATGCTACAAAAATGGAGTCATTGGCATATAACTTTTTTTGAGACTGCCTTTTTTCACTAAGCATGAGATCCATCCAAGTTGTTGCATGTGTCATACTTCTTTCCTTTTTATTGCTGAGAAATACTACTTCATAATAATATTATATGGTATGGATATGCCAGTTTGTTTAACCATTCCCTCATTGAAGGGCACTTTTCCCCATTTTTTTTTT... |
Task1_train_27592 | Located on Chromosome 20, this mutation impacts CSNK2A1 (casein kinase 2 alpha 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Okur-Chung neurodevelopmental syndrome | ATTTTGTGTTTGATCCTTTTTGTTTTTTGAGACAGGGTCTCATTCTCATCGCCCAGGCTGGAGTGCAGTGGTTTGATCATAGATCCGTGCAACCTTCAACTTCCAGGCTCAAGCGATCCTCCCACTTTAGCCCCTCGAGGACCTGCGACTAAAGGCACATGCCACCATGCTCAGCCAACATTCTTTTTAATAGATGGATAAACATGTCCTAGGTTAAAAGGACTACTATGGCTAGTCACCCACATGTTTTGATTTCCAACCTAGTTCTCTTTCTACATATTTCAAGACAGATATAAATACTTAAACTCTCTGGTTCTCAA... | ATTTTGTGTTTGATCCTTTTTGTTTTTTGAGACAGGGTCTCATTCTCATCGCCCAGGCTGGAGTGCAGTGGTTTGATCATAGATCCGTGCAACCTTCAACTTCCAGGCTCAAGCGATCCTCCCACTTTAGCCCCTCGAGGACCTGCGACTAAAGGCACATGCCACCATGCTCAGCCAACATTCTTTTTAATAGATGGATAAACATGTCCTAGGTTAAAAGGACTACTATGGCTAGTCACCCACATGTTTTGATTTCCAACCTAGTTCTCTTTCTACATATTTCAAGACAGATATAAATACTTAAACTCTCTGGTTCTCAA... |
Task1_train_27593 | Gene CSNK2A1 (casein kinase 2 alpha 1) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | GTTTGATCCTTTTTGTTTTTTGAGACAGGGTCTCATTCTCATCGCCCAGGCTGGAGTGCAGTGGTTTGATCATAGATCCGTGCAACCTTCAACTTCCAGGCTCAAGCGATCCTCCCACTTTAGCCCCTCGAGGACCTGCGACTAAAGGCACATGCCACCATGCTCAGCCAACATTCTTTTTAATAGATGGATAAACATGTCCTAGGTTAAAAGGACTACTATGGCTAGTCACCCACATGTTTTGATTTCCAACCTAGTTCTCTTTCTACATATTTCAAGACAGATATAAATACTTAAACTCTCTGGTTCTCAAAGGGCAT... | GTTTGATCCTTTTTGTTTTTTGAGACAGGGTCTCATTCTCATCGCCCAGGCTGGAGTGCAGTGGTTTGATCATAGATCCGTGCAACCTTCAACTTCCAGGCTCAAGCGATCCTCCCACTTTAGCCCCTCGAGGACCTGCGACTAAAGGCACATGCCACCATGCTCAGCCAACATTCTTTTTAATAGATGGATAAACATGTCCTAGGTTAAAAGGACTACTATGGCTAGTCACCCACATGTTTTGATTTCCAACCTAGTTCTCTTTCTACATATTTCAAGACAGATATAAATACTTAAACTCTCTGGTTCTCAAAGGGCAT... |
Task1_train_27594 | Here’s a variant in CSNK2A1 (casein kinase 2 alpha 1) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | TGATCCTTTTTGTTTTTTGAGACAGGGTCTCATTCTCATCGCCCAGGCTGGAGTGCAGTGGTTTGATCATAGATCCGTGCAACCTTCAACTTCCAGGCTCAAGCGATCCTCCCACTTTAGCCCCTCGAGGACCTGCGACTAAAGGCACATGCCACCATGCTCAGCCAACATTCTTTTTAATAGATGGATAAACATGTCCTAGGTTAAAAGGACTACTATGGCTAGTCACCCACATGTTTTGATTTCCAACCTAGTTCTCTTTCTACATATTTCAAGACAGATATAAATACTTAAACTCTCTGGTTCTCAAAGGGCATGTG... | TGATCCTTTTTGTTTTTTGAGACAGGGTCTCATTCTCATCGCCCAGGCTGGAGTGCAGTGGTTTGATCATAGATCCGTGCAACCTTCAACTTCCAGGCTCAAGCGATCCTCCCACTTTAGCCCCTCGAGGACCTGCGACTAAAGGCACATGCCACCATGCTCAGCCAACATTCTTTTTAATAGATGGATAAACATGTCCTAGGTTAAAAGGACTACTATGGCTAGTCACCCACATGTTTTGATTTCCAACCTAGTTCTCTTTCTACATATTTCAAGACAGATATAAATACTTAAACTCTCTGGTTCTCAAAGGGCATGTG... |
Task1_train_27595 | A mutation on Chromosome 20 affecting CSNK2A1 (casein kinase 2 alpha 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GAAATGCCAACATTTTCCTCCTGCCCCTGCCTGCTTCCAATGTAGAGCGCTTTGCTCTGAAGAATGACAAACACAGTTCCAATAAGGCCTAAATTCTATCCTACTGGATAGAATCCTCTGGACCTACTAAGTATCCAATATGAACCAAATCAACCACCTCAACCATTCATTTTCCTCAAGTAGCTAAAAAGAAAGTGAATGAAAAGACAAAAGGTACTAAAAACAATGGACAACATAATAATCATGGCAGGTGTAGGGGAAGAATGCTCCTACTTCTGGTTGAGTTCTCTTCCTATGGGAGGGCATACAAAACAAATGCC... | GAAATGCCAACATTTTCCTCCTGCCCCTGCCTGCTTCCAATGTAGAGCGCTTTGCTCTGAAGAATGACAAACACAGTTCCAATAAGGCCTAAATTCTATCCTACTGGATAGAATCCTCTGGACCTACTAAGTATCCAATATGAACCAAATCAACCACCTCAACCATTCATTTTCCTCAAGTAGCTAAAAAGAAAGTGAATGAAAAGACAAAAGGTACTAAAAACAATGGACAACATAATAATCATGGCAGGTGTAGGGGAAGAATGCTCCTACTTCTGGTTGAGTTCTCTTCCTATGGGAGGGCATACAAAACAAATGCC... |
Task1_train_27596 | The gene SLC52A3 (solute carrier family 52 member 3) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Brown-Vialetto-van Laere syndrome 1 | GGTGAGAAGCCTGACCTCTGACCCCCCCGCCCCACTGGGCGGCATGTGGATGGCCAGTGTCTCCATAGTTAGTTTAGACCCATGTGGAAAATTCCAGGTTGCCTGGCTCAAGTGGGTCAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAG... | GGTGAGAAGCCTGACCTCTGACCCCCCCGCCCCACTGGGCGGCATGTGGATGGCCAGTGTCTCCATAGTTAGTTTAGACCCATGTGGAAAATTCCAGGTTGCCTGGCTCAAGTGGGTCAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAG... |
Task1_train_27597 | A genomic change on Chromosome 20 affects SLC52A3 (solute carrier family 52 member 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; SLC52A3-related disorder | ACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGT... | ACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGT... |
Task1_train_27598 | Located on Chromosome 20, this mutation impacts SLC52A3 (solute carrier family 52 member 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Progressive bulbar palsy of childhood | ACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGT... | ACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGT... |
Task1_train_27599 | A genomic change on Chromosome 20 affects SLC52A3 (solute carrier family 52 member 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Brown-Vialetto-van Laere syndrome 1 | AAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTC... | AAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTC... |
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