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train · 48.9k rows

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ID stringlengths 13 17	question stringlengths 88 1.13k	answer stringlengths 6 156	reference_sequence stringlengths 4.1k 4.1k	variant_sequence stringlengths 4.1k 4.1k
Task1_train_3000	This variant impacts the gene FH (fumarate hydratase) on Chromosome 1. Is the change likely to result in a pathogenic outcome?	Pathogenic; not provided	CTCCCCCAAAAAAATGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGG...	CTCCCCCAAAAAAATGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGG...
Task1_train_3001	A variant was discovered on Chromosome 1, affecting FH (fumarate hydratase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.	Pathogenic; Hereditary cancer-predisposing syndrome	AAAAAATGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAAC...	AAAAAATGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAAC...
Task1_train_3002	With a mutation on Chromosome 1 in gene FH (fumarate hydratase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.	Pathogenic; not provided	AAATGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGG...	AAATGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGG...
Task1_train_3003	A variant has been detected on Chromosome 1 in FH (fumarate hydratase). What is its effect — pathogenic or benign? If pathogenic, name the disease.	Pathogenic; Hereditary cancer-predisposing syndrome	TGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACA...	TGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACA...
Task1_train_3004	A change on Chromosome 1 affects gene FH (fumarate hydratase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.	Pathogenic; Spinocerebellar ataxia 45	TGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACA...	TGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACA...
Task1_train_3005	Gene FH (fumarate hydratase) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.	Pathogenic; Fumarase deficiency	TGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACA...	TGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACA...
Task1_train_3006	Chromosome 1 houses a mutation in gene FH (fumarate hydratase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?	Pathogenic; See cases	TGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACA...	TGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACA...
Task1_train_3007	Given this variant in gene FH (fumarate hydratase) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.	Pathogenic; Hereditary leiomyomatosis and renal cell cancer	TGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACA...	TGCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACA...
Task1_train_3008	This is a variant in FH (fumarate hydratase), located on Chromosome 1. Is this mutation a likely cause of disease or not?	Pathogenic; Fumarase deficiency	GCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAA...	GCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAA...
Task1_train_3009	This sequence variant lies in FH (fumarate hydratase) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?	Pathogenic; Hereditary cancer-predisposing syndrome	GCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAA...	GCAAACATAGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAA...
Task1_train_3010	A variant found in Chromosome 1 affects FH (fumarate hydratase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?	Pathogenic; Fumarase deficiency	AGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGAT...	AGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGAT...
Task1_train_3011	This alteration in FH (fumarate hydratase) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?	Pathogenic; Hereditary cancer-predisposing syndrome	AGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGAT...	AGAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGAT...
Task1_train_3012	The gene FH (fumarate hydratase), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?	Pathogenic; Hereditary cancer-predisposing syndrome	GAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATA...	GAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATA...
Task1_train_3013	This variant affects the gene FH (fumarate hydratase) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.	Pathogenic; not provided	GAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATA...	GAAATATTCTCCATACAATTTCAGTGTATAAACCTACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATA...
Task1_train_3014	The gene FH (fumarate hydratase) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?	Pathogenic; not provided	ACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATACATGGTTACACTAAATCTATCCTTTTTTCCTGCCT...	ACCAGGAAATATGAAGACATTCTACAGAGACTTGGGAAGCTAATGACTCACTGAATAGCACAGGAAGGTAACAGTTTGCATTGAAGGACCTTCCAAAAAGAATAGGAGGTAACGGTAGAGTCAGATCATAGCATCAATGTGCCAATGTCAACACTGGTTCCAAATTTTGACATGCCTTAATTAAAGCAACCACAGAATTTATGTTTTGAACACAGAAAGGGCTCTATTAATAGTCATGCAGAAACAAAAGGCATACACTGGGAGTTAACTGGACAAACCAAGATACATGGTTACACTAAATCTATCCTTTTTTCCTGCCT...
Task1_train_3015	The gene FH (fumarate hydratase) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?	Pathogenic; Hereditary leiomyomatosis and renal cell cancer	ACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGG...	ACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGG...
Task1_train_3016	This sequence change occurs on Chromosome 1, altering FH (fumarate hydratase). What is the medical significance of this variant — is it benign or linked to a disease?	Pathogenic; Hereditary leiomyomatosis and renal cell cancer	ACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGG...	ACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGG...
Task1_train_3017	Chromosome 1 houses a mutation in gene FH (fumarate hydratase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?	Pathogenic; Fumarase deficiency	ACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGG...	ACATGTAGCCAATCACGTTTCATCTATAACTCTACCTTTCTGAGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGG...
Task1_train_3018	Given a variant located on Chromosome 1 and affecting FH (fumarate hydratase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.	Pathogenic; not specified	AGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGGAACACACTTCAGAAAAGTAAAAGGATGGTGGCATGCCTAAAA...	AGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGGAACACACTTCAGAAAAGTAAAAGGATGGTGGCATGCCTAAAA...
Task1_train_3019	This variant lies on Chromosome 1 and affects the gene FH (fumarate hydratase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?	Pathogenic; Hereditary cancer-predisposing syndrome	AGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGGAACACACTTCAGAAAAGTAAAAGGATGGTGGCATGCCTAAAA...	AGGCAGACTTCAGACTTCAGTATATATAGAACATAAATTCATAAAGGCAAGTATTAGATTGGGAAAATCCCTTATACAATGAACGTGTATTAAAAACACTTCTTCCTTACTACTTAAAAATATATTAAATTATACTTAGCACCCAGATCTCAGTTTCTAAATATCATTTTCCAATAAGAATTCTCCAACAGTTCCTTGAAAAATGGCTGTTTCTAGGGCTGGGGCAGAAACAATACAAGACAATGAGCTTGGAGCATCTTAAAGTACCAGGAAGTCGGAACACACTTCAGAAAAGTAAAAGGATGGTGGCATGCCTAAAA...
Task1_train_3020	Chromosome 1 houses a mutation in gene FH (fumarate hydratase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?	Pathogenic; not provided	AGTTTTGATAAATGTACCATGGTTACATAAGATGTTAACAATAAGGGAAGCTGAGTGAAGGGATATAGAAACTATTTGAACTATCTTTGCAATTCTCTTATAAATCTAAAATTATTTCAAAATAGAGTTTTAAACAATAAAAAAATACATACACTAAATTCAGGTGTCCTAAAAATAATTTTTATAAGGATTGAAACATAAAACCAAGATTCCTTCAAGAAATAAGAACCATAAGAAGCCTTATCCATTAAATAATGAACACTTCTTGTCAAAAAGTGAATGCTTGTTTTACAAGAACAATCTCAGGTATGCTTTTCAAT...	AGTTTTGATAAATGTACCATGGTTACATAAGATGTTAACAATAAGGGAAGCTGAGTGAAGGGATATAGAAACTATTTGAACTATCTTTGCAATTCTCTTATAAATCTAAAATTATTTCAAAATAGAGTTTTAAACAATAAAAAAATACATACACTAAATTCAGGTGTCCTAAAAATAATTTTTATAAGGATTGAAACATAAAACCAAGATTCCTTCAAGAAATAAGAACCATAAGAAGCCTTATCCATTAAATAATGAACACTTCTTGTCAAAAAGTGAATGCTTGTTTTACAAGAACAATCTCAGGTATGCTTTTCAAT...
Task1_train_3021	A variant on Chromosome 1 in gene FH (fumarate hydratase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?	Pathogenic; not provided	GAGTACATACAGACTGTTTTACACATAATAAAGTTCAGAAAGTATGACAAAATCGAGACCCCAGGTGTCTGCCTTTCACAGGTGTGCAATCCCAATGGCTGTGCTGTCTCTGGAGCAGCAGCAGCAGGAACCATGCCCCACCAGAACCACAAAACATGCTGGTGACACAGATCAATGAAAACGGCAGCCATGCTCACTCCCACCAACACTAGCTGGGGCTGACCTCCTCCTTAGTCTCTGGAGTTGAATAATATGAGATTATTTTAGGATTGGTCACTACCCTTTTTCACCTAACCACGTAGTCAAACTATGTTTACCTC...	GAGTACATACAGACTGTTTTACACATAATAAAGTTCAGAAAGTATGACAAAATCGAGACCCCAGGTGTCTGCCTTTCACAGGTGTGCAATCCCAATGGCTGTGCTGTCTCTGGAGCAGCAGCAGCAGGAACCATGCCCCACCAGAACCACAAAACATGCTGGTGACACAGATCAATGAAAACGGCAGCCATGCTCACTCCCACCAACACTAGCTGGGGCTGACCTCCTCCTTAGTCTCTGGAGTTGAATAATATGAGATTATTTTAGGATTGGTCACTACCCTTTTTCACCTAACCACGTAGTCAAACTATGTTTACCTC...
Task1_train_3022	This sequence variant lies in FH (fumarate hydratase) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?	Pathogenic; Hereditary cancer-predisposing syndrome	ATACTATGCTGGTGATAAACATAAAGACTTTGAAATACAAATAGTAATCTTTTCCATTTCAAGAGTATGCTTATTACTGGTCAAGATTTGGCCAATTCAATGTACTTAGTTTAATGCTTATTTTACTGGGAACTTTTGAAAACGGTCTAAGAATGATTATTTGAAATTTATAAACATTATTTATATATAAACATTATTCACATATATTACATATGTATATTCATTTATATAAGAAATGTATAAACATTATTTACATATATAAACACTATATATATGCCATCATGCTACCAAGTCAGTATCACAGTTGGTCTGCCTGTTAA...	ATACTATGCTGGTGATAAACATAAAGACTTTGAAATACAAATAGTAATCTTTTCCATTTCAAGAGTATGCTTATTACTGGTCAAGATTTGGCCAATTCAATGTACTTAGTTTAATGCTTATTTTACTGGGAACTTTTGAAAACGGTCTAAGAATGATTATTTGAAATTTATAAACATTATTTATATATAAACATTATTCACATATATTACATATGTATATTCATTTATATAAGAAATGTATAAACATTATTTACATATATAAACACTATATATATGCCATCATGCTACCAAGTCAGTATCACAGTTGGTCTGCCTGTTAA...
Task1_train_3023	The following genetic variant occurs in AKT3 (AKT serine/threonine kinase 3) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.	Pathogenic; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	ACCCAGGAGGCGGAGGTTGCAGTGGGCCGAGATTGCGCCACTGCACTCCAGCCCAGACAACAGAGCGAGACTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAAAAGTCACCACTCTGTTTAAAGTTACCTATCATCGGGTGCTGCTCCTTACTTAATTGTAAAAGAACGCTATCAAACGGAACACATTTCAAAACTTAAACTGAGAAACTGCTGCATTGTAAATAAGATACATAAGAAATACCAAATAGGCACCAAGAAACTTGACTTCTACTCTTGGTCTGCATGAATGTTCTGAGAGACCTTGAAGAAA...	ACCCAGGAGGCGGAGGTTGCAGTGGGCCGAGATTGCGCCACTGCACTCCAGCCCAGACAACAGAGCGAGACTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAAAAGTCACCACTCTGTTTAAAGTTACCTATCATCGGGTGCTGCTCCTTACTTAATTGTAAAAGAACGCTATCAAACGGAACACATTTCAAAACTTAAACTGAGAAACTGCTGCATTGTAAATAAGATACATAAGAAATACCAAATAGGCACCAAGAAACTTGACTTCTACTCTTGGTCTGCATGAATGTTCTGAGAGACCTTGAAGAAA...
Task1_train_3024	Gene AKT3 (AKT serine/threonine kinase 3) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.	Pathogenic; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	CCCAGGAGGCGGAGGTTGCAGTGGGCCGAGATTGCGCCACTGCACTCCAGCCCAGACAACAGAGCGAGACTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAAAAGTCACCACTCTGTTTAAAGTTACCTATCATCGGGTGCTGCTCCTTACTTAATTGTAAAAGAACGCTATCAAACGGAACACATTTCAAAACTTAAACTGAGAAACTGCTGCATTGTAAATAAGATACATAAGAAATACCAAATAGGCACCAAGAAACTTGACTTCTACTCTTGGTCTGCATGAATGTTCTGAGAGACCTTGAAGAAAT...	CCCAGGAGGCGGAGGTTGCAGTGGGCCGAGATTGCGCCACTGCACTCCAGCCCAGACAACAGAGCGAGACTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAAAAGTCACCACTCTGTTTAAAGTTACCTATCATCGGGTGCTGCTCCTTACTTAATTGTAAAAGAACGCTATCAAACGGAACACATTTCAAAACTTAAACTGAGAAACTGCTGCATTGTAAATAAGATACATAAGAAATACCAAATAGGCACCAAGAAACTTGACTTCTACTCTTGGTCTGCATGAATGTTCTGAGAGACCTTGAAGAAAT...
Task1_train_3025	This mutation is located in gene AKT3 (AKT serine/threonine kinase 3) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?	Pathogenic; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GAGATGGCACCACTACAATCCAGCCTGAATGACAGAGCCAGACCCCATCTCAAAAAAAAAAAGATGTACCAATCCTACAGTTCCACAACATCCATTTTCTTCGTATTTTCTCAGACATCTTACTGCAAGGGCCCAGTTCTGTATTCCTGGGTTATTATTATTTAATTATCTTGTCCTATCATCCACCAGTGATTCTGCCCATCCCATCCTCTCTGCCTGAAACAACTTCTTACATCAATTCCCTGGGTGAAATCTCATTAAGCCTACTCTAAGTGCTAGATCATCCATAAAGCATTTTCTTTTATGACTTTATTAGAAGT...	GAGATGGCACCACTACAATCCAGCCTGAATGACAGAGCCAGACCCCATCTCAAAAAAAAAAAGATGTACCAATCCTACAGTTCCACAACATCCATTTTCTTCGTATTTTCTCAGACATCTTACTGCAAGGGCCCAGTTCTGTATTCCTGGGTTATTATTATTTAATTATCTTGTCCTATCATCCACCAGTGATTCTGCCCATCCCATCCTCTCTGCCTGAAACAACTTCTTACATCAATTCCCTGGGTGAAATCTCATTAAGCCTACTCTAAGTGCTAGATCATCCATAAAGCATTTTCTTTTATGACTTTATTAGAAGT...
Task1_train_3026	Chromosome 1 houses a mutation in gene AKT3 (AKT serine/threonine kinase 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?	Pathogenic; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	TATGGGCAAAATCCACTGATATGGGTGTTAAAATTAGTACCTAAAAGTTTAAGAAAAAATAGGTTATTTATATAGTCCCAGAGTATTTCCTCTAAGATACTGATTACTTATGAATGGAAAAAATAGCAACTTTAAAGTGAAGAAACACAGTAGACACCACTGTAGTCAAGCAATCAAAATTAACATCACCAGTAAAAAGATATCAAAATCATTTCTTCCCTGATATGTTGCTCTGAGAAGGGCACAGCAGGAACCAAACCCCAGGTCTTGTCACACTCCAAATCTTCATAGTGTTAATCATCTTGCTATAAATGAGCATA...	TATGGGCAAAATCCACTGATATGGGTGTTAAAATTAGTACCTAAAAGTTTAAGAAAAAATAGGTTATTTATATAGTCCCAGAGTATTTCCTCTAAGATACTGATTACTTATGAATGGAAAAAATAGCAACTTTAAAGTGAAGAAACACAGTAGACACCACTGTAGTCAAGCAATCAAAATTAACATCACCAGTAAAAAGATATCAAAATCATTTCTTCCCTGATATGTTGCTCTGAGAAGGGCACAGCAGGAACCAAACCCCAGGTCTTGTCACACTCCAAATCTTCATAGTGTTAATCATCTTGCTATAAATGAGCATA...
Task1_train_3027	This mutation is located in gene AKT3 (AKT serine/threonine kinase 3) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?	Pathogenic; not provided	CCAGATTCTAGAGGTATATAGAAATGCACATACCAATGGCAAATATGAGTATGCTGTTTTTCATTTGTATTAATACTGTTTTTTCTTATAGTTATAAATGCAAATGAAAACTGATTGTTCAGAAGAGTAGTATATTATTACAGGAACAGCAGAGGATTTTAGAGTCTTAAGATCTGACAGAAATCCAGCTTTGTAAACACAAATGGCAAAATGAATTGTGCTTCAACAGATGTTAAAAATCCACTAAGAATAACATTTTCAAAGAATATATATTGACATGGGAAAAGTACCATTCATCCAGCCAGTCAATAAATACTGTG...	CCAGATTCTAGAGGTATATAGAAATGCACATACCAATGGCAAATATGAGTATGCTGTTTTTCATTTGTATTAATACTGTTTTTTCTTATAGTTATAAATGCAAATGAAAACTGATTGTTCAGAAGAGTAGTATATTATTACAGGAACAGCAGAGGATTTTAGAGTCTTAAGATCTGACAGAAATCCAGCTTTGTAAACACAAATGGCAAAATGAATTGTGCTTCAACAGATGTTAAAAATCCACTAAGAATAACATTTTCAAAGAATATATATTGACATGGGAAAAGTACCATTCATCCAGCCAGTCAATAAATACTGTG...
Task1_train_3028	An alteration has been detected in AKT3 (AKT serine/threonine kinase 3) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?	Pathogenic; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	CAGCTTGCGGCCAGGTTGGAATTTGAACTACTTCTTCAGCTAGTATCCATTTCAGTAGACTCATTCTTTCCTCACATAACTGTTATTACAGAATTGAAGATTGCGGTAAGTCAAGCTTTAGTAATAATCAATTTCTAAAAATTTATTTAGAGTAAGATCCATGTTACTAATACTTTTTAAAACTAAGGAGCCAACCTACAACTTACTTGTTAGTTTGAGTCAACTACCTACAGCTACTTGATTATACAAGATTACAGATGTCAGATAGTATTTATTTCATGGATAAATAAGCTGACTGTCAGTCACTAAATAGGATCCTT...	CAGCTTGCGGCCAGGTTGGAATTTGAACTACTTCTTCAGCTAGTATCCATTTCAGTAGACTCATTCTTTCCTCACATAACTGTTATTACAGAATTGAAGATTGCGGTAAGTCAAGCTTTAGTAATAATCAATTTCTAAAAATTTATTTAGAGTAAGATCCATGTTACTAATACTTTTTAAAACTAAGGAGCCAACCTACAACTTACTTGTTAGTTTGAGTCAACTACCTACAGCTACTTGATTATACAAGATTACAGATGTCAGATAGTATTTATTTCATGGATAAATAAGCTGACTGTCAGTCACTAAATAGGATCCTT...
Task1_train_3029	This variant impacts the gene ZBTB18 (zinc finger and BTB domain containing 18) on Chromosome 1. Is the change likely to result in a pathogenic outcome?	Pathogenic; Inborn genetic diseases	GATCTCGTACATGTGTGCTATACCTGCAAATCTGAAGGCATTAACATCTGTTTTTATACACAGGGCTTTTGTTGTAACACCCTGACTTTAAAAGTAAGTTGTTTGCTAATTTCTGGACTAATTATGCAATTTCATTTTTTTTTCTTGATTCAGCCAAATGTGTGTGTGTGTGTTTAAACTGTGCTTTCTAAGCACAGTCAGGTAGCAAAAGTAATAAAAAGGATGGTTGAACAAGTTTTCTTGTATGTTCCAGGATATGTTTGGGACTTTTCTTTGTTTATTATATGAGTTGTTCCCTTTGAAATTAAAGCTATTTTGTA...	GATCTCGTACATGTGTGCTATACCTGCAAATCTGAAGGCATTAACATCTGTTTTTATACACAGGGCTTTTGTTGTAACACCCTGACTTTAAAAGTAAGTTGTTTGCTAATTTCTGGACTAATTATGCAATTTCATTTTTTTTTCTTGATTCAGCCAAATGTGTGTGTGTGTGTTTAAACTGTGCTTTCTAAGCACAGTCAGGTAGCAAAAGTAATAAAAAGGATGGTTGAACAAGTTTTCTTGTATGTTCCAGGATATGTTTGGGACTTTTCTTTGTTTATTATATGAGTTGTTCCCTTTGAAATTAAAGCTATTTTGTA...
Task1_train_3030	Chromosome 1 houses a mutation in gene ZBTB18 (zinc finger and BTB domain containing 18). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?	Pathogenic; Intellectual disability	GATCTCGTACATGTGTGCTATACCTGCAAATCTGAAGGCATTAACATCTGTTTTTATACACAGGGCTTTTGTTGTAACACCCTGACTTTAAAAGTAAGTTGTTTGCTAATTTCTGGACTAATTATGCAATTTCATTTTTTTTTCTTGATTCAGCCAAATGTGTGTGTGTGTGTTTAAACTGTGCTTTCTAAGCACAGTCAGGTAGCAAAAGTAATAAAAAGGATGGTTGAACAAGTTTTCTTGTATGTTCCAGGATATGTTTGGGACTTTTCTTTGTTTATTATATGAGTTGTTCCCTTTGAAATTAAAGCTATTTTGTA...	GATCTCGTACATGTGTGCTATACCTGCAAATCTGAAGGCATTAACATCTGTTTTTATACACAGGGCTTTTGTTGTAACACCCTGACTTTAAAAGTAAGTTGTTTGCTAATTTCTGGACTAATTATGCAATTTCATTTTTTTTTCTTGATTCAGCCAAATGTGTGTGTGTGTGTTTAAACTGTGCTTTCTAAGCACAGTCAGGTAGCAAAAGTAATAAAAAGGATGGTTGAACAAGTTTTCTTGTATGTTCCAGGATATGTTTGGGACTTTTCTTTGTTTATTATATGAGTTGTTCCCTTTGAAATTAAAGCTATTTTGTA...
Task1_train_3031	Mutation context: Chromosome 1, Gene ZBTB18 (zinc finger and BTB domain containing 18). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.	Pathogenic; not provided	ACATGTGTGCTATACCTGCAAATCTGAAGGCATTAACATCTGTTTTTATACACAGGGCTTTTGTTGTAACACCCTGACTTTAAAAGTAAGTTGTTTGCTAATTTCTGGACTAATTATGCAATTTCATTTTTTTTTCTTGATTCAGCCAAATGTGTGTGTGTGTGTTTAAACTGTGCTTTCTAAGCACAGTCAGGTAGCAAAAGTAATAAAAAGGATGGTTGAACAAGTTTTCTTGTATGTTCCAGGATATGTTTGGGACTTTTCTTTGTTTATTATATGAGTTGTTCCCTTTGAAATTAAAGCTATTTTGTAGGTTTTGT...	ACATGTGTGCTATACCTGCAAATCTGAAGGCATTAACATCTGTTTTTATACACAGGGCTTTTGTTGTAACACCCTGACTTTAAAAGTAAGTTGTTTGCTAATTTCTGGACTAATTATGCAATTTCATTTTTTTTTCTTGATTCAGCCAAATGTGTGTGTGTGTGTTTAAACTGTGCTTTCTAAGCACAGTCAGGTAGCAAAAGTAATAAAAAGGATGGTTGAACAAGTTTTCTTGTATGTTCCAGGATATGTTTGGGACTTTTCTTTGTTTATTATATGAGTTGTTCCCTTTGAAATTAAAGCTATTTTGTAGGTTTTGT...
Task1_train_3032	A variant found in Chromosome 1 affects ZBTB18 (zinc finger and BTB domain containing 18). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?	Pathogenic; Intellectual disability, autosomal dominant 22	GGGCTTTTGTTGTAACACCCTGACTTTAAAAGTAAGTTGTTTGCTAATTTCTGGACTAATTATGCAATTTCATTTTTTTTTCTTGATTCAGCCAAATGTGTGTGTGTGTGTTTAAACTGTGCTTTCTAAGCACAGTCAGGTAGCAAAAGTAATAAAAAGGATGGTTGAACAAGTTTTCTTGTATGTTCCAGGATATGTTTGGGACTTTTCTTTGTTTATTATATGAGTTGTTCCCTTTGAAATTAAAGCTATTTTGTAGGTTTTGTGGGACATAATTTGATAAGTAGAGTTAATTAAATTTCTTCTGGAAGAGATCTAAA...	GGGCTTTTGTTGTAACACCCTGACTTTAAAAGTAAGTTGTTTGCTAATTTCTGGACTAATTATGCAATTTCATTTTTTTTTCTTGATTCAGCCAAATGTGTGTGTGTGTGTTTAAACTGTGCTTTCTAAGCACAGTCAGGTAGCAAAAGTAATAAAAAGGATGGTTGAACAAGTTTTCTTGTATGTTCCAGGATATGTTTGGGACTTTTCTTTGTTTATTATATGAGTTGTTCCCTTTGAAATTAAAGCTATTTTGTAGGTTTTGTGGGACATAATTTGATAAGTAGAGTTAATTAAATTTCTTCTGGAAGAGATCTAAA...
Task1_train_3033	Given a variant located on Chromosome 1 and affecting COX20 (cytochrome c oxidase assembly factor COX20), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.	Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 11	GAGAGCCTGGCACTAATACCTACCTCCCCCACCAGCAGCTCTTAATTATGAGATCAACCACTATTATTTTAGACCAGAGTTTTGTTGGGGATTGGGTTTGTTTCAGAAGGCACTATTTTAAATAAGATGTGTAGCTTCTATTTAGATATTTGCCTTTAAAGTCAGCTGAGCTATTTTCCTATTGTTTGCAAATTTACTTTTATTTAAAAAAATAAAATTTCCTAAAGCAGTGTTTCCCCAATATGACAGTCATCAGAAAAAACCACCTAGAGTTTTCTAAACATAGATTCCAGTGATTGTAAATCAGAATCTGAGAGTGG...	GAGAGCCTGGCACTAATACCTACCTCCCCCACCAGCAGCTCTTAATTATGAGATCAACCACTATTATTTTAGACCAGAGTTTTGTTGGGGATTGGGTTTGTTTCAGAAGGCACTATTTTAAATAAGATGTGTAGCTTCTATTTAGATATTTGCCTTTAAAGTCAGCTGAGCTATTTTCCTATTGTTTGCAAATTTACTTTTATTTAAAAAAATAAAATTTCCTAAAGCAGTGTTTCCCCAATATGACAGTCATCAGAAAAAACCACCTAGAGTTTTCTAAACATAGATTCCAGTGATTGTAAATCAGAATCTGAGAGTGG...
Task1_train_3034	The gene COX20 (cytochrome c oxidase assembly factor COX20) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?	Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 11	ACCACTATTATTTTAGACCAGAGTTTTGTTGGGGATTGGGTTTGTTTCAGAAGGCACTATTTTAAATAAGATGTGTAGCTTCTATTTAGATATTTGCCTTTAAAGTCAGCTGAGCTATTTTCCTATTGTTTGCAAATTTACTTTTATTTAAAAAAATAAAATTTCCTAAAGCAGTGTTTCCCCAATATGACAGTCATCAGAAAAAACCACCTAGAGTTTTCTAAACATAGATTCCAGTGATTGTAAATCAGAATCTGAGAGTGGGACTAGAAAATACTTAATTCTATCCTGTGGTACAAGCTGGTCTCACACTTGCATCT...	ACCACTATTATTTTAGACCAGAGTTTTGTTGGGGATTGGGTTTGTTTCAGAAGGCACTATTTTAAATAAGATGTGTAGCTTCTATTTAGATATTTGCCTTTAAAGTCAGCTGAGCTATTTTCCTATTGTTTGCAAATTTACTTTTATTTAAAAAAATAAAATTTCCTAAAGCAGTGTTTCCCCAATATGACAGTCATCAGAAAAAACCACCTAGAGTTTTCTAAACATAGATTCCAGTGATTGTAAATCAGAATCTGAGAGTGGGACTAGAAAATACTTAATTCTATCCTGTGGTACAAGCTGGTCTCACACTTGCATCT...
Task1_train_3035	Chromosome 1 houses a mutation in gene COX20 (cytochrome c oxidase assembly factor COX20). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?	Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 11	AGTTACCGTGAGTTTTCTAAACTTTTGTGTTAACAGAAATGCCAGTTCAGCAGTGTGACTGTTACTTTTAAATGTCTGTCTTGCCGCCCTAGAGTGACAGACATCCCAGTTAAACATATTAGGAATAAGAAATACATAAATCCAATGAAGACTGTAGAAAAAGAATTTTAGCACTTGAAGGAACTTCAGTCATTTAACCCAACCCATTCATGTTATAGATTGAGACCATAGAAATAAAAGTAGCCTATAGGATACAAAAGTTAGCGGCAGATCTGAGATAAAAATCCAGCTCTTTGGATCCCCGCGTTTTTCACCACACT...	AGTTACCGTGAGTTTTCTAAACTTTTGTGTTAACAGAAATGCCAGTTCAGCAGTGTGACTGTTACTTTTAAATGTCTGTCTTGCCGCCCTAGAGTGACAGACATCCCAGTTAAACATATTAGGAATAAGAAATACATAAATCCAATGAAGACTGTAGAAAAAGAATTTTAGCACTTGAAGGAACTTCAGTCATTTAACCCAACCCATTCATGTTATAGATTGAGACCATAGAAATAAAAGTAGCCTATAGGATACAAAAGTTAGCGGCAGATCTGAGATAAAAATCCAGCTCTTTGGATCCCCGCGTTTTTCACCACACT...
Task1_train_3036	A variant was discovered on Chromosome 1, affecting HNRNPU (heterogeneous nuclear ribonucleoprotein U). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.	Pathogenic; Developmental and epileptic encephalopathy, 54	GCTAAATTATAGGTAGTGTTACAAGTTTCCGTTAGCTAGTCAAAAACTGGCATTAATTTTACATTTCCTAAGAATGAGAACTTTCAAGTCATAAAAATACGAAACTCCTAGAGCCTGTAAAATAATCCACTTAATACAACTGATGACGTGCTAAATATTAAACTACTAGGTTCTGAATGTAAACCATTATCTTCCTGCTTTTAAAAAAACTAACCCAAGTTTTGCTGCACTTAAGCATTAAGACTTCTAAAAAAAAAAAAAAAAAAACCACCATCACCGCATTTCATAATTGGGGAGAAACAGCTTCACTTACAAGTATC...	GCTAAATTATAGGTAGTGTTACAAGTTTCCGTTAGCTAGTCAAAAACTGGCATTAATTTTACATTTCCTAAGAATGAGAACTTTCAAGTCATAAAAATACGAAACTCCTAGAGCCTGTAAAATAATCCACTTAATACAACTGATGACGTGCTAAATATTAAACTACTAGGTTCTGAATGTAAACCATTATCTTCCTGCTTTTAAAAAAACTAACCCAAGTTTTGCTGCACTTAAGCATTAAGACTTCTAAAAAAAAAAAAAAAAAAACCACCATCACCGCATTTCATAATTGGGGAGAAACAGCTTCACTTACAAGTATC...
Task1_train_3037	This variant affects the gene NLRP3 (NLR family pyrin domain containing 3) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.	Pathogenic; Cryopyrin associated periodic syndrome	GAGGTTGAGGCTGCAGGGAGCCATGATTGTGTCATTGCACTCCAGCCTGGGCAATAGAGTGAGGCCCTGTCTCAAAAAAAAAAAAAAAATCATTTATGTTACTTGTAGATTCCTGCCCACCTGAAGTTATCTGTCTTATATATTTCCCCTAGTGACTAACTCTTGTTTTACCTAACCTGAATTTCTCCTATAGAATGCCTTCTTAAGATATGCTATCTAGTGACTGTTTGGATTTGTGATTCTCAACACAGATGCATGTTGGAATCACCTGGGAGCTTTTAGTATGTGATGGTTCCTGGGCCTCACCTCAGAGGGACTGA...	GAGGTTGAGGCTGCAGGGAGCCATGATTGTGTCATTGCACTCCAGCCTGGGCAATAGAGTGAGGCCCTGTCTCAAAAAAAAAAAAAAAATCATTTATGTTACTTGTAGATTCCTGCCCACCTGAAGTTATCTGTCTTATATATTTCCCCTAGTGACTAACTCTTGTTTTACCTAACCTGAATTTCTCCTATAGAATGCCTTCTTAAGATATGCTATCTAGTGACTGTTTGGATTTGTGATTCTCAACACAGATGCATGTTGGAATCACCTGGGAGCTTTTAGTATGTGATGGTTCCTGGGCCTCACCTCAGAGGGACTGA...
Task1_train_3038	Here is a mutation in NLRP3 (NLR family pyrin domain containing 3) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?	Pathogenic; Cryopyrin associated periodic syndrome	GGTTGAGGCTGCAGGGAGCCATGATTGTGTCATTGCACTCCAGCCTGGGCAATAGAGTGAGGCCCTGTCTCAAAAAAAAAAAAAAAATCATTTATGTTACTTGTAGATTCCTGCCCACCTGAAGTTATCTGTCTTATATATTTCCCCTAGTGACTAACTCTTGTTTTACCTAACCTGAATTTCTCCTATAGAATGCCTTCTTAAGATATGCTATCTAGTGACTGTTTGGATTTGTGATTCTCAACACAGATGCATGTTGGAATCACCTGGGAGCTTTTAGTATGTGATGGTTCCTGGGCCTCACCTCAGAGGGACTGAAA...	GGTTGAGGCTGCAGGGAGCCATGATTGTGTCATTGCACTCCAGCCTGGGCAATAGAGTGAGGCCCTGTCTCAAAAAAAAAAAAAAAATCATTTATGTTACTTGTAGATTCCTGCCCACCTGAAGTTATCTGTCTTATATATTTCCCCTAGTGACTAACTCTTGTTTTACCTAACCTGAATTTCTCCTATAGAATGCCTTCTTAAGATATGCTATCTAGTGACTGTTTGGATTTGTGATTCTCAACACAGATGCATGTTGGAATCACCTGGGAGCTTTTAGTATGTGATGGTTCCTGGGCCTCACCTCAGAGGGACTGAAA...
Task1_train_3039	The gene NLRP3 (NLR family pyrin domain containing 3) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.	Pathogenic; Cryopyrin associated periodic syndrome	GTTGAGGCTGCAGGGAGCCATGATTGTGTCATTGCACTCCAGCCTGGGCAATAGAGTGAGGCCCTGTCTCAAAAAAAAAAAAAAAATCATTTATGTTACTTGTAGATTCCTGCCCACCTGAAGTTATCTGTCTTATATATTTCCCCTAGTGACTAACTCTTGTTTTACCTAACCTGAATTTCTCCTATAGAATGCCTTCTTAAGATATGCTATCTAGTGACTGTTTGGATTTGTGATTCTCAACACAGATGCATGTTGGAATCACCTGGGAGCTTTTAGTATGTGATGGTTCCTGGGCCTCACCTCAGAGGGACTGAAAA...	GTTGAGGCTGCAGGGAGCCATGATTGTGTCATTGCACTCCAGCCTGGGCAATAGAGTGAGGCCCTGTCTCAAAAAAAAAAAAAAAATCATTTATGTTACTTGTAGATTCCTGCCCACCTGAAGTTATCTGTCTTATATATTTCCCCTAGTGACTAACTCTTGTTTTACCTAACCTGAATTTCTCCTATAGAATGCCTTCTTAAGATATGCTATCTAGTGACTGTTTGGATTTGTGATTCTCAACACAGATGCATGTTGGAATCACCTGGGAGCTTTTAGTATGTGATGGTTCCTGGGCCTCACCTCAGAGGGACTGAAAA...