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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_10800	Consider this mutation in AHI1 (Abelson helper integration site 1) on Chromosome 6. Is this a benign change or a disease-causing variant?	Pathogenic; Joubert syndrome 3	AAATATGCTATCACTGTTTATAAAAGGGCGTCTCACTTGATTCCACAGCATTGGAAAACTAAATCCTAGAGATTAAATTCTCACACAACTTTTTTTTTTGCCTTACTGGACTACTAAAAATAATAGCTTACATTTGTGCTATTAAATATTAACTATCGTTTAATTTGAATTGGTCCATTCAATTCATACCTCAAAGAACAGGATGACTTTAGGACTCTCATCAGAGCCTCGAAGCAAATAGGGAAAATTTTCATTAAATACAATTTGTTCTTCCCACTCTGGAAGTCTTGATTTTAACTGTTTAAAATCATATGGCTGGG...	AAATATGCTATCACTGTTTATAAAAGGGCGTCTCACTTGATTCCACAGCATTGGAAAACTAAATCCTAGAGATTAAATTCTCACACAACTTTTTTTTTTGCCTTACTGGACTACTAAAAATAATAGCTTACATTTGTGCTATTAAATATTAACTATCGTTTAATTTGAATTGGTCCATTCAATTCATACCTCAAAGAACAGGATGACTTTAGGACTCTCATCAGAGCCTCGAAGCAAATAGGGAAAATTTTCATTAAATACAATTTGTTCTTCCCACTCTGGAAGTCTTGATTTTAACTGTTTAAAATCATATGGCTGGG...
Task1_train_10801	A variant affecting Chromosome 6, within the gene BCLAF1 (BCL2 associated transcription factor 1), has been observed. Determine if it's benign or associated with disease.	Pathogenic; Pulmonary artery atresia	GACTTTACCTGCTCAGGTGACTGAGTTTCTTTCTTTACTGTTATTCTTTCAGAATTTTTGTCTTCTTCTTTGTGCTTATCTTTTGTAGTGCTAGGCCTTTCCACTACATATCCAGTCTCTTTAAGTTTATAATTTTTTTCTTCTCTAAATCCATCACTTTCTCTATTGCCTTTCAGTGAAACTTTGGACTTGTACTTGAGTCCTTCCTCCTCAGTATTCCGGTGAGATGCAGTAGCAAAACTTTTACCCTGATCTGCGAGGACTGACTTCCTGAACTGTCTATAATCCTCTGTCTCCTCTGTGTCATCCCCTTCTGAATC...	GACTTTACCTGCTCAGGTGACTGAGTTTCTTTCTTTACTGTTATTCTTTCAGAATTTTTGTCTTCTTCTTTGTGCTTATCTTTTGTAGTGCTAGGCCTTTCCACTACATATCCAGTCTCTTTAAGTTTATAATTTTTTTCTTCTCTAAATCCATCACTTTCTCTATTGCCTTTCAGTGAAACTTTGGACTTGTACTTGAGTCCTTCCTCCTCAGTATTCCGGTGAGATGCAGTAGCAAAACTTTTACCCTGATCTGCGAGGACTGACTTCCTGAACTGTCTATAATCCTCTGTCTCCTCTGTGTCATCCCCTTCTGAATC...
Task1_train_10802	The following genetic variant occurs in BCLAF1 (BCL2 associated transcription factor 1) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition.	Pathogenic; Pulmonary artery atresia	ATTAAACTTTTGTTTTCCAGACTCTTTATCACTGAAGTAATCTAGAGCTTCCTGATCTTCCCATTCTCCCTCTGCCCTCCCTTTCTCTGATCCTTTCTCTTTTGAAGCCTCTTTATCCCTGGTATTACCCCTATCAAGCAGGAATACTCTAGACTCTTCATCTGTGAACCTGCGAATAAGCAAAGAAGAGGATAGTAACTCTGGATTGCATTCACTGTAGATCGCTTCCATATTTAAATGTGTTGCCCAATCCCTCAGGACCAGCAAGAGAGAAAATAACCCTATTGAAAAGTGCTTTTTCAGATTCCACTTTTAAAAAT...	ATTAAACTTTTGTTTTCCAGACTCTTTATCACTGAAGTAATCTAGAGCTTCCTGATCTTCCCATTCTCCCTCTGCCCTCCCTTTCTCTGATCCTTTCTCTTTTGAAGCCTCTTTATCCCTGGTATTACCCCTATCAAGCAGGAATACTCTAGACTCTTCATCTGTGAACCTGCGAATAAGCAAAGAAGAGGATAGTAACTCTGGATTGCATTCACTGTAGATCGCTTCCATATTTAAATGTGTTGCCCAATCCCTCAGGACCAGCAAGAGAGAAAATAACCCTATTGAAAAGTGCTTTTTCAGATTCCACTTTTAAAAAT...
Task1_train_10803	Consider this mutation in PEX7 (peroxisomal biogenesis factor 7) on Chromosome 6. Is this a benign change or a disease-causing variant?	Pathogenic; Peroxisome biogenesis disorder 9B	AAGGAGCAGGTAATAGCTCAGTTTGTGTGTGTGTGTGTATGTCCAAGGTCACTGTAAATAGTTTACCCCAGCTGGAACCAGCCTTTCTCCCTCCCAGAGATACCACACTATTTTTAGCTTAGATTGGATAACTCTTTATATACAACTCTTTGCCAAGGTCCCAGCTGCTTCATGTTTGCTTACTTTGATATTTTATTAACGCCTATTTAGCATTTCAATAAACTCCAGAATGTTTCCAGGTTACTTTTTGTAGTATTACGAAAAACACACTGATCATTTAGGCACTGTATTAGGCTGCATTCACTCAACATTTCCTGAAT...	AAGGAGCAGGTAATAGCTCAGTTTGTGTGTGTGTGTGTATGTCCAAGGTCACTGTAAATAGTTTACCCCAGCTGGAACCAGCCTTTCTCCCTCCCAGAGATACCACACTATTTTTAGCTTAGATTGGATAACTCTTTATATACAACTCTTTGCCAAGGTCCCAGCTGCTTCATGTTTGCTTACTTTGATATTTTATTAACGCCTATTTAGCATTTCAATAAACTCCAGAATGTTTCCAGGTTACTTTTTGTAGTATTACGAAAAACACACTGATCATTTAGGCACTGTATTAGGCTGCATTCACTCAACATTTCCTGAAT...
Task1_train_10804	Located on Chromosome 6, this mutation impacts PEX7 (peroxisomal biogenesis factor 7). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?	Pathogenic; Rhizomelic chondrodysplasia punctata type 1	AAGGAGCAGGTAATAGCTCAGTTTGTGTGTGTGTGTGTATGTCCAAGGTCACTGTAAATAGTTTACCCCAGCTGGAACCAGCCTTTCTCCCTCCCAGAGATACCACACTATTTTTAGCTTAGATTGGATAACTCTTTATATACAACTCTTTGCCAAGGTCCCAGCTGCTTCATGTTTGCTTACTTTGATATTTTATTAACGCCTATTTAGCATTTCAATAAACTCCAGAATGTTTCCAGGTTACTTTTTGTAGTATTACGAAAAACACACTGATCATTTAGGCACTGTATTAGGCTGCATTCACTCAACATTTCCTGAAT...	AAGGAGCAGGTAATAGCTCAGTTTGTGTGTGTGTGTGTATGTCCAAGGTCACTGTAAATAGTTTACCCCAGCTGGAACCAGCCTTTCTCCCTCCCAGAGATACCACACTATTTTTAGCTTAGATTGGATAACTCTTTATATACAACTCTTTGCCAAGGTCCCAGCTGCTTCATGTTTGCTTACTTTGATATTTTATTAACGCCTATTTAGCATTTCAATAAACTCCAGAATGTTTCCAGGTTACTTTTTGTAGTATTACGAAAAACACACTGATCATTTAGGCACTGTATTAGGCTGCATTCACTCAACATTTCCTGAAT...
Task1_train_10805	This sequence variant lies in PEX7 (peroxisomal biogenesis factor 7) on Chromosome 6. Is it clinically significant, and what condition might it cause if any?	Pathogenic; Peroxisome biogenesis disorder 9B	AAGGAGCAGGTAATAGCTCAGTTTGTGTGTGTGTGTGTATGTCCAAGGTCACTGTAAATAGTTTACCCCAGCTGGAACCAGCCTTTCTCCCTCCCAGAGATACCACACTATTTTTAGCTTAGATTGGATAACTCTTTATATACAACTCTTTGCCAAGGTCCCAGCTGCTTCATGTTTGCTTACTTTGATATTTTATTAACGCCTATTTAGCATTTCAATAAACTCCAGAATGTTTCCAGGTTACTTTTTGTAGTATTACGAAAAACACACTGATCATTTAGGCACTGTATTAGGCTGCATTCACTCAACATTTCCTGAAT...	AAGGAGCAGGTAATAGCTCAGTTTGTGTGTGTGTGTGTATGTCCAAGGTCACTGTAAATAGTTTACCCCAGCTGGAACCAGCCTTTCTCCCTCCCAGAGATACCACACTATTTTTAGCTTAGATTGGATAACTCTTTATATACAACTCTTTGCCAAGGTCCCAGCTGCTTCATGTTTGCTTACTTTGATATTTTATTAACGCCTATTTAGCATTTCAATAAACTCCAGAATGTTTCCAGGTTACTTTTTGTAGTATTACGAAAAACACACTGATCATTTAGGCACTGTATTAGGCTGCATTCACTCAACATTTCCTGAAT...
Task1_train_10806	A variant affecting Chromosome 6, within the gene IFNGR1 (interferon gamma receptor 1), has been observed. Determine if it's benign or associated with disease.	Pathogenic; Immunodeficiency 27A	CTTGAATATTTATAAGCATCCTATTTTCATTACACTACAGAAAGGAACAACTTTTGCTAGCTACACAAGAATTTCCATTATGAAAAATGTGAAACACATACCTCACTTCCGTTCATTCTCACATACACATTGTACACCCTAATGTAACAGGTAGTTTCGGGATCATAATCGACTTCCTGCTCGTCTCCATTTACAAAAACTGAAGGGTGAAATATGTCAATCATGATTTGCTTCTCCTCCTTTCTGATATCCAGTTTAGGTGGTCCAATTTTTCCTGGGGAAGGAGGAGGAGGAAGTATAATAAATACTGGCCTTGGAAC...	CTTGAATATTTATAAGCATCCTATTTTCATTACACTACAGAAAGGAACAACTTTTGCTAGCTACACAAGAATTTCCATTATGAAAAATGTGAAACACATACCTCACTTCCGTTCATTCTCACATACACATTGTACACCCTAATGTAACAGGTAGTTTCGGGATCATAATCGACTTCCTGCTCGTCTCCATTTACAAAAACTGAAGGGTGAAATATGTCAATCATGATTTGCTTCTCCTCCTTTCTGATATCCAGTTTAGGTGGTCCAATTTTTCCTGGGGAAGGAGGAGGAGGAAGTATAATAAATACTGGCCTTGGAAC...
Task1_train_10807	A mutation on Chromosome 6 affecting IFNGR1 (interferon gamma receptor 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?	Pathogenic; Immunodeficiency 27A	GTGAAAAATCAGAACTTATTCCATAAATATTTATTAGGTCTTTGATGTTTGAGACTTTGTTGTGAACCATTTATCTAGTCTTCACATATTACTGTGTACCACTGTGTGCCAGGCAGGTCTGTTTTTAACCCATCAGTGTATCCTCAGGGCCCAGTATACTTTCCGGCACGTAGTAGGCCCTTGATAAATCTATATGGAAAAAAATCTAACATGCAGATGGTGTGGTAATCATATGACAAAATTGTGGACTCTGGGGAAGAAAAGTATTTAAAGGGTAAGGAGAGGAAGAGCCTGTAGAAGAGACCGAGGTGGCACAATCT...	GTGAAAAATCAGAACTTATTCCATAAATATTTATTAGGTCTTTGATGTTTGAGACTTTGTTGTGAACCATTTATCTAGTCTTCACATATTACTGTGTACCACTGTGTGCCAGGCAGGTCTGTTTTTAACCCATCAGTGTATCCTCAGGGCCCAGTATACTTTCCGGCACGTAGTAGGCCCTTGATAAATCTATATGGAAAAAAATCTAACATGCAGATGGTGTGGTAATCATATGACAAAATTGTGGACTCTGGGGAAGAAAAGTATTTAAAGGGTAAGGAGAGGAAGAGCCTGTAGAAGAGACCGAGGTGGCACAATCT...
Task1_train_10808	Chromosome 6 houses a mutation in gene IFNGR1 (interferon gamma receptor 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?	Pathogenic; Immunodeficiency 27A	GATCCTGCATAAAATCATTTCCCTTTGTAATTGATAATCCAATGATGTCAGCATTAGTAAATAATGACTGACTTCAGCAAGGCATAGTGGGTGTATTATTTTGTTGGCTCAACACCTGTACTTCAGGCACGCCATTCCGCTTCTTCTGGTAACCCAACCCAACCCTCTACGAGAATGTCCTTCCCATGCAAGCTGGCACCTGAACCTAGCTGGGCAAATCAGAGCCTTTCCCTGGCATTTTGTTAGAATGGAGGAGGCTGCAAGATGTCAAAACTCAGAAGCTGTCAGCATCCATGATTCCTGCCAAGTGTGGAAAGCTG...	GATCCTGCATAAAATCATTTCCCTTTGTAATTGATAATCCAATGATGTCAGCATTAGTAAATAATGACTGACTTCAGCAAGGCATAGTGGGTGTATTATTTTGTTGGCTCAACACCTGTACTTCAGGCACGCCATTCCGCTTCTTCTGGTAACCCAACCCAACCCTCTACGAGAATGTCCTTCCCATGCAAGCTGGCACCTGAACCTAGCTGGGCAAATCAGAGCCTTTCCCTGGCATTTTGTTAGAATGGAGGAGGCTGCAAGATGTCAAAACTCAGAAGCTGTCAGCATCCATGATTCCTGCCAAGTGTGGAAAGCTG...
Task1_train_10809	The gene LOC126859807, TNFAIP3 (MED14-independent group 3 enhancer GRCh37_chr6:138196296-138197495\| TNF alpha induced protein 3) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.	Pathogenic; not provided	TGTGAGTTTTAAACTGGAAAGGTCACAGATTAATGGCATACAATTAAACCTGTTTTTTTGTTTGTTTTTCTTCTCAAAATGTTAGCCCTAAACACTGAATTATTTTCAAATTTAGACACCCAGGTGCTTTTTAACTTTTGTACTTTACAGTTACTAACAAGCAGGTTTGCATAAGGCATTTTTGAGAGCCGGACTAGCAGGCCATAGGTAATTCCGTGTTGTCAATACGACTTTCCACACCAGGAGAGGAAACTCCCAGGGCCCAAAGGCTAAAGTGGAATGGTCAAGTCATTTGCCATTGAGTCATAGCCAGACCATCC...	TGTGAGTTTTAAACTGGAAAGGTCACAGATTAATGGCATACAATTAAACCTGTTTTTTTGTTTGTTTTTCTTCTCAAAATGTTAGCCCTAAACACTGAATTATTTTCAAATTTAGACACCCAGGTGCTTTTTAACTTTTGTACTTTACAGTTACTAACAAGCAGGTTTGCATAAGGCATTTTTGAGAGCCGGACTAGCAGGCCATAGGTAATTCCGTGTTGTCAATACGACTTTCCACACCAGGAGAGGAAACTCCCAGGGCCCAAAGGCTAAAGTGGAATGGTCAAGTCATTTGCCATTGAGTCATAGCCAGACCATCC...
Task1_train_10810	The following genetic variant occurs in TNFAIP3 (TNF alpha induced protein 3) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition.	Pathogenic; Autoinflammatory syndrome, familial, Behcet-like 1	AAAGCCTGGGACTTTAACCAATAAGATCCACCACCTCCAGGCTGGTTAATGTTATGTGAGTTTCCTGGAAACAGTGCATTTTTATATTAGATTGTAGCACATTTTGTTTTCCCATTTGGGTTTAACTGTGGCTAAGAATACTTTTCTATTCTGTAAGTTATATCTTTTATACATTTTCAAAATGAGATCTACTTACCTATGGCCTTGTTTAGTAGAATACTGTTTTACTTATGTATTATTTTTTTCCTTAGAAATCCGAGCTGTTCCACTTGTTAACAGAGACCGGGGAAGATTTGAAGACTTAAAAGTTCACTTTTTGA...	AAAGCCTGGGACTTTAACCAATAAGATCCACCACCTCCAGGCTGGTTAATGTTATGTGAGTTTCCTGGAAACAGTGCATTTTTATATTAGATTGTAGCACATTTTGTTTTCCCATTTGGGTTTAACTGTGGCTAAGAATACTTTTCTATTCTGTAAGTTATATCTTTTATACATTTTCAAAATGAGATCTACTTACCTATGGCCTTGTTTAGTAGAATACTGTTTTACTTATGTATTATTTTTTTCCTTAGAAATCCGAGCTGTTCCACTTGTTAACAGAGACCGGGGAAGATTTGAAGACTTAAAAGTTCACTTTTTGA...
Task1_train_10811	This is a variant in PERP (p53 apoptosis effector related to PMP22), located on Chromosome 6. Is this mutation a likely cause of disease or not?	Pathogenic; Erythrokeratodermia variabilis et progressiva 7	CACGGCATAGTTGTGTGGGTTTTTCTTTTCAATTTTGGTATAATCACCCAGATTACATTTCTCTATGAGAAACATTCACCTCGCATTTTGAAAAGCATAGAAAAATTCACTGCCAAGGACTAGCTGGCCAACAGTAGCCCTAGGGAGATATATTTCCGTTCTCCCACCCAGCCTCTCTGCACCCATCCTCACAATGACATACACCATAGTGGAAGTAACATATGACTTATGGTGGGAAAAAAAATAACAAATGATAAAATGGGAAGGAGGGCAAGGGGAAAATAGAGAGACTGCTACCCCACCACCTGAATGGAAGGGGA...	CACGGCATAGTTGTGTGGGTTTTTCTTTTCAATTTTGGTATAATCACCCAGATTACATTTCTCTATGAGAAACATTCACCTCGCATTTTGAAAAGCATAGAAAAATTCACTGCCAAGGACTAGCTGGCCAACAGTAGCCCTAGGGAGATATATTTCCGTTCTCCCACCCAGCCTCTCTGCACCCATCCTCACAATGACATACACCATAGTGGAAGTAACATATGACTTATGGTGGGAAAAAAAATAACAAATGATAAAATGGGAAGGAGGGCAAGGGGAAAATAGAGAGACTGCTACCCCACCACCTGAATGGAAGGGGA...
Task1_train_10812	The variant affects gene REPS1 (RALBP1 associated Eps domain containing 1), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.	Pathogenic; Neurodegeneration with brain iron accumulation	AACAGTGTTGTTTAATGTTATTCTGAACTTACGGATCCACGAACAGAATGTAAGAGTCTTAGACTTTTTTAACTGGGAAAAGATATTTTTAATATGTGAATATGTCATGTTTTTGGCCCCCAGTGATTATAAATTCTTTTTAGACAAATAATCTGATAATTATTTTATAATTAAAATCTATGACCAATAAAACAATGTCTTTGATATTATGAAATTGAGATTCTCCTGTCCCATCTAGAAGAACTTCTGTTTTCAACAACTCACCTGGAATAAATCCGTTTAGATCAGGCTGAATGGTTTTAAACTGATTTACATAATAC...	AACAGTGTTGTTTAATGTTATTCTGAACTTACGGATCCACGAACAGAATGTAAGAGTCTTAGACTTTTTTAACTGGGAAAAGATATTTTTAATATGTGAATATGTCATGTTTTTGGCCCCCAGTGATTATAAATTCTTTTTAGACAAATAATCTGATAATTATTTTATAATTAAAATCTATGACCAATAAAACAATGTCTTTGATATTATGAAATTGAGATTCTCCTGTCCCATCTAGAAGAACTTCTGTTTTCAACAACTCACCTGGAATAAATCCGTTTAGATCAGGCTGAATGGTTTTAAACTGATTTACATAATAC...
Task1_train_10813	A genetic alteration is present in REPS1 (RALBP1 associated Eps domain containing 1) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved?	Pathogenic; Neurodegeneration with brain iron accumulation 7	TTTGTAAAAATGGATACAGAAACAAGAGGCACAAAATGTCTATCACCACAAAATTTGGACCACCATCTCCCTTACATTATTTAGGGAGACTCTTATCTAGAAAGAAGTAATAAAACCAAATTGTCCTTCTAATGAGTGATAACAATGGCTACATCAAATGTCTACGTATGTTTGGCCCTATACTTGCCACTGAATATTTATTTCACCTCGTAACCACAGTACCCCTGCAAAGCTCCTATTTACAGATAAGAAAACTGAGGCTCCATGATGCCAAGGTCATGCTTGTAGTAACTGACAGTTAAGATATAAACCTAGATCAG...	TTTGTAAAAATGGATACAGAAACAAGAGGCACAAAATGTCTATCACCACAAAATTTGGACCACCATCTCCCTTACATTATTTAGGGAGACTCTTATCTAGAAAGAAGTAATAAAACCAAATTGTCCTTCTAATGAGTGATAACAATGGCTACATCAAATGTCTACGTATGTTTGGCCCTATACTTGCCACTGAATATTTATTTCACCTCGTAACCACAGTACCCCTGCAAAGCTCCTATTTACAGATAAGAAAACTGAGGCTCCATGATGCCAAGGTCATGCTTGTAGTAACTGACAGTTAAGATATAAACCTAGATCAG...
Task1_train_10814	With a mutation on Chromosome 6 in gene ADGRG6 (adhesion G protein-coupled receptor G6), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.	Pathogenic; Lethal congenital contracture syndrome 9	TCCAATCATTTAGGCCTTTACAGTTAAAGAAATTGCACACCAAAGGAAAGGGTTTTTTTTTTTTCTTTAATTTAGCAGTAAGTACTGTTTACATAATGAGCAGCATTCTTGGCTTTAATCAGTTTTCCCATTAGTATTTCAAGTGACCTTTGGTCTTTACACATCCGCAGAGTAAGATGGAATTGTGCTAAGCACATATTATCATTTTTATTGGCATCATTTCTAGATTCTAGAAGGCCCACTGCCAGCAAACACTGGTGACCTCTGTTTGCCTTTACAAGTACAACCTGATCGAGAGCAGGTTCGCTGGGCCCTTTTTA...	TCCAATCATTTAGGCCTTTACAGTTAAAGAAATTGCACACCAAAGGAAAGGGTTTTTTTTTTTTCTTTAATTTAGCAGTAAGTACTGTTTACATAATGAGCAGCATTCTTGGCTTTAATCAGTTTTCCCATTAGTATTTCAAGTGACCTTTGGTCTTTACACATCCGCAGAGTAAGATGGAATTGTGCTAAGCACATATTATCATTTTTATTGGCATCATTTCTAGATTCTAGAAGGCCCACTGCCAGCAAACACTGGTGACCTCTGTTTGCCTTTACAAGTACAACCTGATCGAGAGCAGGTTCGCTGGGCCCTTTTTA...
Task1_train_10815	Here is a variant affecting ADGRG6 (adhesion G protein-coupled receptor G6) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder.	Pathogenic; Arthrogryposis multiplex congenita	TCCAATCATTTAGGCCTTTACAGTTAAAGAAATTGCACACCAAAGGAAAGGGTTTTTTTTTTTTCTTTAATTTAGCAGTAAGTACTGTTTACATAATGAGCAGCATTCTTGGCTTTAATCAGTTTTCCCATTAGTATTTCAAGTGACCTTTGGTCTTTACACATCCGCAGAGTAAGATGGAATTGTGCTAAGCACATATTATCATTTTTATTGGCATCATTTCTAGATTCTAGAAGGCCCACTGCCAGCAAACACTGGTGACCTCTGTTTGCCTTTACAAGTACAACCTGATCGAGAGCAGGTTCGCTGGGCCCTTTTTA...	TCCAATCATTTAGGCCTTTACAGTTAAAGAAATTGCACACCAAAGGAAAGGGTTTTTTTTTTTTCTTTAATTTAGCAGTAAGTACTGTTTACATAATGAGCAGCATTCTTGGCTTTAATCAGTTTTCCCATTAGTATTTCAAGTGACCTTTGGTCTTTACACATCCGCAGAGTAAGATGGAATTGTGCTAAGCACATATTATCATTTTTATTGGCATCATTTCTAGATTCTAGAAGGCCCACTGCCAGCAAACACTGGTGACCTCTGTTTGCCTTTACAAGTACAACCTGATCGAGAGCAGGTTCGCTGGGCCCTTTTTA...
Task1_train_10816	The variant affects gene LTV1 (LTV1 ribosome biogenesis factor), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.	Pathogenic; Inflammatory poikiloderma with hair abnormalities and acral keratoses	CTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAATTTGCCAATCTGTGTCTTTTAATTGGGGCTTTTATCCCATTTACATTTAAGGTTAATATTGTAATGTGTTATTTGATTCTGTCATTATGATGCTAGCTGGTTATTTTGCCCATTAGTTTATGCAGTTTCTTCTTAGTATCGATGGTCTTTACTGTTTGGTACGTTTTGCAGTGGCTGGTACCAGTTTTTCCTTTCCATATTTAGTGCTTCCTTCAGGAGCTCTTGTAAGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTGCTTATCTGGAAAGGAT...	CTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAATTTGCCAATCTGTGTCTTTTAATTGGGGCTTTTATCCCATTTACATTTAAGGTTAATATTGTAATGTGTTATTTGATTCTGTCATTATGATGCTAGCTGGTTATTTTGCCCATTAGTTTATGCAGTTTCTTCTTAGTATCGATGGTCTTTACTGTTTGGTACGTTTTGCAGTGGCTGGTACCAGTTTTTCCTTTCCATATTTAGTGCTTCCTTCAGGAGCTCTTGTAAGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTGCTTATCTGGAAAGGAT...
Task1_train_10817	This variant impacts the gene STX11 (syntaxin 11) on Chromosome 6. Is the change likely to result in a pathogenic outcome?	Pathogenic; Familial hemophagocytic lymphohistiocytosis 4	AGAAAATATCAGGCATATATAACATACGTTTATGTTCTCTGTCATTTACATCTTCTCTGAATTGCTTCACTGTCTTTGGGTAAGTAGATTTTTTGGTAGCTTAGAAATATATATATTAAGTATCTTAACCTCTTGTCTGTCATATATTATAATTTCTCCCCAGTTGGTGGTTTGTCTTTCAATTTTGTTCAAAGTGAGGAAACAGTTGAATATCAAGAAATTCAGACCAGGTGAAGGCATAGTTTTGGTCCAGGGTGGATCTTTTTTCTGCCTGTCAACCATACTGCTAGGAGAATCACCTTCCCCATCCGTGAGAAGGT...	AGAAAATATCAGGCATATATAACATACGTTTATGTTCTCTGTCATTTACATCTTCTCTGAATTGCTTCACTGTCTTTGGGTAAGTAGATTTTTTGGTAGCTTAGAAATATATATATTAAGTATCTTAACCTCTTGTCTGTCATATATTATAATTTCTCCCCAGTTGGTGGTTTGTCTTTCAATTTTGTTCAAAGTGAGGAAACAGTTGAATATCAAGAAATTCAGACCAGGTGAAGGCATAGTTTTGGTCCAGGGTGGATCTTTTTTCTGCCTGTCAACCATACTGCTAGGAGAATCACCTTCCCCATCCGTGAGAAGGT...
Task1_train_10818	This sequence variant lies in STX11 (syntaxin 11) on Chromosome 6. Is it clinically significant, and what condition might it cause if any?	Pathogenic; Familial hemophagocytic lymphohistiocytosis	AGAAAATATCAGGCATATATAACATACGTTTATGTTCTCTGTCATTTACATCTTCTCTGAATTGCTTCACTGTCTTTGGGTAAGTAGATTTTTTGGTAGCTTAGAAATATATATATTAAGTATCTTAACCTCTTGTCTGTCATATATTATAATTTCTCCCCAGTTGGTGGTTTGTCTTTCAATTTTGTTCAAAGTGAGGAAACAGTTGAATATCAAGAAATTCAGACCAGGTGAAGGCATAGTTTTGGTCCAGGGTGGATCTTTTTTCTGCCTGTCAACCATACTGCTAGGAGAATCACCTTCCCCATCCGTGAGAAGGT...	AGAAAATATCAGGCATATATAACATACGTTTATGTTCTCTGTCATTTACATCTTCTCTGAATTGCTTCACTGTCTTTGGGTAAGTAGATTTTTTGGTAGCTTAGAAATATATATATTAAGTATCTTAACCTCTTGTCTGTCATATATTATAATTTCTCCCCAGTTGGTGGTTTGTCTTTCAATTTTGTTCAAAGTGAGGAAACAGTTGAATATCAAGAAATTCAGACCAGGTGAAGGCATAGTTTTGGTCCAGGGTGGATCTTTTTTCTGCCTGTCAACCATACTGCTAGGAGAATCACCTTCCCCATCCGTGAGAAGGT...
Task1_train_10819	Given this variant in gene EPM2A (EPM2A glucan phosphatase, laforin) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable.	Pathogenic; Lafora disease	ATGGAAATTATGAAGCTGGATTTCTTAGACATTAAAGAAATTCACAGACCCACATAGTTTAAAAATTTAATTTTTAAGATTAAATTTTCACAACACATTATGACTGTAAATGAGTTACCTGAATACCAATTATTACCTCTAGTTATTTTTAGCAAGGGAGCTGGACTTCACTTTACTTAATGCTAGCTTATAAATTTAACTTTGTAAAATTATAGTGGAAATGTGTCCTGGCTAGCTGCCTCTGCCCAAAGCAAATGTCATCTCCCCTAAGTGCCACAGTTCTATCTCCCCGTCCTCTGAGCTCCACTGAAACTTACCTT...	ATGGAAATTATGAAGCTGGATTTCTTAGACATTAAAGAAATTCACAGACCCACATAGTTTAAAAATTTAATTTTTAAGATTAAATTTTCACAACACATTATGACTGTAAATGAGTTACCTGAATACCAATTATTACCTCTAGTTATTTTTAGCAAGGGAGCTGGACTTCACTTTACTTAATGCTAGCTTATAAATTTAACTTTGTAAAATTATAGTGGAAATGTGTCCTGGCTAGCTGCCTCTGCCCAAAGCAAATGTCATCTCCCCTAAGTGCCACAGTTCTATCTCCCCGTCCTCTGAGCTCCACTGAAACTTACCTT...
Task1_train_10820	A genomic change on Chromosome 6 affects EPM2A (EPM2A glucan phosphatase, laforin). Classify this variant as benign or pathogenic, and name the disease if relevant.	Pathogenic; Progressive myoclonic epilepsy	ACAGACCCACATAGTTTAAAAATTTAATTTTTAAGATTAAATTTTCACAACACATTATGACTGTAAATGAGTTACCTGAATACCAATTATTACCTCTAGTTATTTTTAGCAAGGGAGCTGGACTTCACTTTACTTAATGCTAGCTTATAAATTTAACTTTGTAAAATTATAGTGGAAATGTGTCCTGGCTAGCTGCCTCTGCCCAAAGCAAATGTCATCTCCCCTAAGTGCCACAGTTCTATCTCCCCGTCCTCTGAGCTCCACTGAAACTTACCTTGTATCCTTCTTGTCCCCCACGCCTTCTAAATAAGAGTCTCTTG...	ACAGACCCACATAGTTTAAAAATTTAATTTTTAAGATTAAATTTTCACAACACATTATGACTGTAAATGAGTTACCTGAATACCAATTATTACCTCTAGTTATTTTTAGCAAGGGAGCTGGACTTCACTTTACTTAATGCTAGCTTATAAATTTAACTTTGTAAAATTATAGTGGAAATGTGTCCTGGCTAGCTGCCTCTGCCCAAAGCAAATGTCATCTCCCCTAAGTGCCACAGTTCTATCTCCCCGTCCTCTGAGCTCCACTGAAACTTACCTTGTATCCTTCTTGTCCCCCACGCCTTCTAAATAAGAGTCTCTTG...
Task1_train_10821	The gene EPM2A (EPM2A glucan phosphatase, laforin) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?	Pathogenic; Lafora disease	ACAGACCCACATAGTTTAAAAATTTAATTTTTAAGATTAAATTTTCACAACACATTATGACTGTAAATGAGTTACCTGAATACCAATTATTACCTCTAGTTATTTTTAGCAAGGGAGCTGGACTTCACTTTACTTAATGCTAGCTTATAAATTTAACTTTGTAAAATTATAGTGGAAATGTGTCCTGGCTAGCTGCCTCTGCCCAAAGCAAATGTCATCTCCCCTAAGTGCCACAGTTCTATCTCCCCGTCCTCTGAGCTCCACTGAAACTTACCTTGTATCCTTCTTGTCCCCCACGCCTTCTAAATAAGAGTCTCTTG...	ACAGACCCACATAGTTTAAAAATTTAATTTTTAAGATTAAATTTTCACAACACATTATGACTGTAAATGAGTTACCTGAATACCAATTATTACCTCTAGTTATTTTTAGCAAGGGAGCTGGACTTCACTTTACTTAATGCTAGCTTATAAATTTAACTTTGTAAAATTATAGTGGAAATGTGTCCTGGCTAGCTGCCTCTGCCCAAAGCAAATGTCATCTCCCCTAAGTGCCACAGTTCTATCTCCCCGTCCTCTGAGCTCCACTGAAACTTACCTTGTATCCTTCTTGTCCCCCACGCCTTCTAAATAAGAGTCTCTTG...
Task1_train_10822	Gene EPM2A (EPM2A glucan phosphatase, laforin) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign?	Pathogenic; Progressive myoclonic epilepsy	GAGCTGGACTTCACTTTACTTAATGCTAGCTTATAAATTTAACTTTGTAAAATTATAGTGGAAATGTGTCCTGGCTAGCTGCCTCTGCCCAAAGCAAATGTCATCTCCCCTAAGTGCCACAGTTCTATCTCCCCGTCCTCTGAGCTCCACTGAAACTTACCTTGTATCCTTCTTGTCCCCCACGCCTTCTAAATAAGAGTCTCTTGCATCTATCAATATGTGTTTGTGGAAGAAAGGAAGGTGCAGAAAAATAAATACGCATCATAGTTTAATTAGGAAAGTAAGGGCTTTGAATCAAACCCAGCTTTGTATCTCACTTC...	GAGCTGGACTTCACTTTACTTAATGCTAGCTTATAAATTTAACTTTGTAAAATTATAGTGGAAATGTGTCCTGGCTAGCTGCCTCTGCCCAAAGCAAATGTCATCTCCCCTAAGTGCCACAGTTCTATCTCCCCGTCCTCTGAGCTCCACTGAAACTTACCTTGTATCCTTCTTGTCCCCCACGCCTTCTAAATAAGAGTCTCTTGCATCTATCAATATGTGTTTGTGGAAGAAAGGAAGGTGCAGAAAAATAAATACGCATCATAGTTTAATTAGGAAAGTAAGGGCTTTGAATCAAACCCAGCTTTGTATCTCACTTC...
Task1_train_10823	The gene EPM2A (EPM2A glucan phosphatase, laforin), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change?	Pathogenic; Lafora disease	GAGCTGGACTTCACTTTACTTAATGCTAGCTTATAAATTTAACTTTGTAAAATTATAGTGGAAATGTGTCCTGGCTAGCTGCCTCTGCCCAAAGCAAATGTCATCTCCCCTAAGTGCCACAGTTCTATCTCCCCGTCCTCTGAGCTCCACTGAAACTTACCTTGTATCCTTCTTGTCCCCCACGCCTTCTAAATAAGAGTCTCTTGCATCTATCAATATGTGTTTGTGGAAGAAAGGAAGGTGCAGAAAAATAAATACGCATCATAGTTTAATTAGGAAAGTAAGGGCTTTGAATCAAACCCAGCTTTGTATCTCACTTC...	GAGCTGGACTTCACTTTACTTAATGCTAGCTTATAAATTTAACTTTGTAAAATTATAGTGGAAATGTGTCCTGGCTAGCTGCCTCTGCCCAAAGCAAATGTCATCTCCCCTAAGTGCCACAGTTCTATCTCCCCGTCCTCTGAGCTCCACTGAAACTTACCTTGTATCCTTCTTGTCCCCCACGCCTTCTAAATAAGAGTCTCTTGCATCTATCAATATGTGTTTGTGGAAGAAAGGAAGGTGCAGAAAAATAAATACGCATCATAGTTTAATTAGGAAAGTAAGGGCTTTGAATCAAACCCAGCTTTGTATCTCACTTC...
Task1_train_10824	Mutation context: Chromosome 6, Gene EPM2A (EPM2A glucan phosphatase, laforin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.	Pathogenic; Inborn genetic diseases	GAGCTGGACTTCACTTTACTTAATGCTAGCTTATAAATTTAACTTTGTAAAATTATAGTGGAAATGTGTCCTGGCTAGCTGCCTCTGCCCAAAGCAAATGTCATCTCCCCTAAGTGCCACAGTTCTATCTCCCCGTCCTCTGAGCTCCACTGAAACTTACCTTGTATCCTTCTTGTCCCCCACGCCTTCTAAATAAGAGTCTCTTGCATCTATCAATATGTGTTTGTGGAAGAAAGGAAGGTGCAGAAAAATAAATACGCATCATAGTTTAATTAGGAAAGTAAGGGCTTTGAATCAAACCCAGCTTTGTATCTCACTTC...	GAGCTGGACTTCACTTTACTTAATGCTAGCTTATAAATTTAACTTTGTAAAATTATAGTGGAAATGTGTCCTGGCTAGCTGCCTCTGCCCAAAGCAAATGTCATCTCCCCTAAGTGCCACAGTTCTATCTCCCCGTCCTCTGAGCTCCACTGAAACTTACCTTGTATCCTTCTTGTCCCCCACGCCTTCTAAATAAGAGTCTCTTGCATCTATCAATATGTGTTTGTGGAAGAAAGGAAGGTGCAGAAAAATAAATACGCATCATAGTTTAATTAGGAAAGTAAGGGCTTTGAATCAAACCCAGCTTTGTATCTCACTTC...
Task1_train_10825	The gene EPM2A (EPM2A glucan phosphatase, laforin) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation?	Pathogenic; Lafora disease	TGACAAATATAAAATGTAAATCCAAGAGGTCCAACATCCATCTAAGGAGTGTCTCTAATGACAAAGAGCAAAGGCAATCAAGGAGAAGAAATAATCATTCAGTGGAAAAAAATCTCCAGAGCCCAAGATATGACTCTTCAGAAAAAAGGGTTCATTCAGGAAATGTGGTTCAGGATCATTTAAAAGAACCCATAAACATATCCTCATTAAATGTCAGACCATCTCAAGAAGTGTTGCTTCTCATTCCTTTCTCTGGATCTTCTGCTTCTCCTTGACTTCTAAATTGTGTGAACCAGGGCTCAATATTTTTGCTTCTTCTC...	TGACAAATATAAAATGTAAATCCAAGAGGTCCAACATCCATCTAAGGAGTGTCTCTAATGACAAAGAGCAAAGGCAATCAAGGAGAAGAAATAATCATTCAGTGGAAAAAAATCTCCAGAGCCCAAGATATGACTCTTCAGAAAAAAGGGTTCATTCAGGAAATGTGGTTCAGGATCATTTAAAAGAACCCATAAACATATCCTCATTAAATGTCAGACCATCTCAAGAAGTGTTGCTTCTCATTCCTTTCTCTGGATCTTCTGCTTCTCCTTGACTTCTAAATTGTGTGAACCAGGGCTCAATATTTTTGCTTCTTCTC...
Task1_train_10826	Here’s a variant in EPM2A (EPM2A glucan phosphatase, laforin) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing?	Pathogenic; Progressive myoclonic epilepsy	TGACAAATATAAAATGTAAATCCAAGAGGTCCAACATCCATCTAAGGAGTGTCTCTAATGACAAAGAGCAAAGGCAATCAAGGAGAAGAAATAATCATTCAGTGGAAAAAAATCTCCAGAGCCCAAGATATGACTCTTCAGAAAAAAGGGTTCATTCAGGAAATGTGGTTCAGGATCATTTAAAAGAACCCATAAACATATCCTCATTAAATGTCAGACCATCTCAAGAAGTGTTGCTTCTCATTCCTTTCTCTGGATCTTCTGCTTCTCCTTGACTTCTAAATTGTGTGAACCAGGGCTCAATATTTTTGCTTCTTCTC...	TGACAAATATAAAATGTAAATCCAAGAGGTCCAACATCCATCTAAGGAGTGTCTCTAATGACAAAGAGCAAAGGCAATCAAGGAGAAGAAATAATCATTCAGTGGAAAAAAATCTCCAGAGCCCAAGATATGACTCTTCAGAAAAAAGGGTTCATTCAGGAAATGTGGTTCAGGATCATTTAAAAGAACCCATAAACATATCCTCATTAAATGTCAGACCATCTCAAGAAGTGTTGCTTCTCATTCCTTTCTCTGGATCTTCTGCTTCTCCTTGACTTCTAAATTGTGTGAACCAGGGCTCAATATTTTTGCTTCTTCTC...
Task1_train_10827	The following genetic variant occurs in EPM2A (EPM2A glucan phosphatase, laforin) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition.	Pathogenic; Self-limited epilepsy with centrotemporal spikes	ATAAAATGTAAATCCAAGAGGTCCAACATCCATCTAAGGAGTGTCTCTAATGACAAAGAGCAAAGGCAATCAAGGAGAAGAAATAATCATTCAGTGGAAAAAAATCTCCAGAGCCCAAGATATGACTCTTCAGAAAAAAGGGTTCATTCAGGAAATGTGGTTCAGGATCATTTAAAAGAACCCATAAACATATCCTCATTAAATGTCAGACCATCTCAAGAAGTGTTGCTTCTCATTCCTTTCTCTGGATCTTCTGCTTCTCCTTGACTTCTAAATTGTGTGAACCAGGGCTCAATATTTTTGCTTCTTCTCTTTGTCTC...	ATAAAATGTAAATCCAAGAGGTCCAACATCCATCTAAGGAGTGTCTCTAATGACAAAGAGCAAAGGCAATCAAGGAGAAGAAATAATCATTCAGTGGAAAAAAATCTCCAGAGCCCAAGATATGACTCTTCAGAAAAAAGGGTTCATTCAGGAAATGTGGTTCAGGATCATTTAAAAGAACCCATAAACATATCCTCATTAAATGTCAGACCATCTCAAGAAGTGTTGCTTCTCATTCCTTTCTCTGGATCTTCTGCTTCTCCTTGACTTCTAAATTGTGTGAACCAGGGCTCAATATTTTTGCTTCTTCTCTTTGTCTC...
Task1_train_10828	This variant impacts the gene EPM2A, EPM2A-DT, LOC129997381 (EPM2A glucan phosphatase, laforin\| EPM2A divergent transcript\| ATAC-STARR-seq lymphoblastoid silent region 17642) on Chromosome 6. Is the change likely to result in a pathogenic outcome?	Pathogenic; Progressive myoclonic epilepsy	TATAGGAGTAACTTCCTAGAAAGTCAACAGTCAATTTTTAATACAAAACTGAAAATAATTCCTGCTTGGATAGTAAAGAAAAATATTTATCAAAAAAACTGAAAATAATAGTAAAAAAAAATCAGCAGGGAAGACAGAGAGTGAACTTGAGCTAAATTCCTCATATTTCATAACAAGTGTGATGGTTAATTTTATGAGCATCCAGTAGGTGTCAATATCTATTGCCTAATTTTAACTTTTAAAATTATATATAACTTATATGGTAACTATTAGAAAAATTAAAAACAAAAGTTTGTGGTACCTTAAGAAATAGCAACATA...	TATAGGAGTAACTTCCTAGAAAGTCAACAGTCAATTTTTAATACAAAACTGAAAATAATTCCTGCTTGGATAGTAAAGAAAAATATTTATCAAAAAAACTGAAAATAATAGTAAAAAAAAATCAGCAGGGAAGACAGAGAGTGAACTTGAGCTAAATTCCTCATATTTCATAACAAGTGTGATGGTTAATTTTATGAGCATCCAGTAGGTGTCAATATCTATTGCCTAATTTTAACTTTTAAAATTATATATAACTTATATGGTAACTATTAGAAAAATTAAAAACAAAAGTTTGTGGTACCTTAAGAAATAGCAACATA...
Task1_train_10829	Located on Chromosome 6, this mutation impacts GRM1 (glutamate metabotropic receptor 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?	Pathogenic; Spinocerebellar ataxia 44	AAGAGAAGATTATGAGGTAATGGGTATGCCTATGTCCAAACTCATCAAGACGTATACATTAAATGTGTACAGTTTTTGTATATCAATTAGAAGTCAACTAAGACAAAGAGAAAAAAATGCTAAAAAGGAAAGAATAGAAGAAGCAAATACATTGACCTAGGCAACTATTGTTGCTATAAACAGGAGCAATGAATGAGTAACTCAAGAGGGACAATGAGGTCAGGGGTATTTTTCTTTTTGATTGACACTGATAGGAAGGAGAAATTGATTATCCAAGAGAGGGAACAACTGTAGGAGAAACTCCTTGAATAGACAAAAAG...	AAGAGAAGATTATGAGGTAATGGGTATGCCTATGTCCAAACTCATCAAGACGTATACATTAAATGTGTACAGTTTTTGTATATCAATTAGAAGTCAACTAAGACAAAGAGAAAAAAATGCTAAAAAGGAAAGAATAGAAGAAGCAAATACATTGACCTAGGCAACTATTGTTGCTATAAACAGGAGCAATGAATGAGTAACTCAAGAGGGACAATGAGGTCAGGGGTATTTTTCTTTTTGATTGACACTGATAGGAAGGAGAAATTGATTATCCAAGAGAGGGAACAACTGTAGGAGAAACTCCTTGAATAGACAAAAAG...
Task1_train_10830	This is a variant in GRM1 (glutamate metabotropic receptor 1), located on Chromosome 6. Is this mutation a likely cause of disease or not?	Pathogenic; Autosomal recessive spinocerebellar ataxia 13	GTAATGACTGCAACTTTGGGTGATGGTTTTAGTATTGACAGGACACTTTAAGGGGCTGCTGTCTTCAAGGTTATTTTGCCACTCAATTTTTGTGTTTTTTTTTTTCTTTAACTCTTGGTAATTTCTATGATTCTAGTAGCTTTAATATTTAGCATTTGGGGTTCTAGGCGAGCCTATAAGGGCTTGTTTAAGAGTTATCAGGCAGATGGCACAAATTTACCTCTTTTATGGTCCCAGTAAGTTGGAGAGGGAGAGAAAGAAAACCAACAGTAAGGGCCATGGGTTCTGAGTGACAGACATAAGCTACTCTGTTTAAATGA...	GTAATGACTGCAACTTTGGGTGATGGTTTTAGTATTGACAGGACACTTTAAGGGGCTGCTGTCTTCAAGGTTATTTTGCCACTCAATTTTTGTGTTTTTTTTTTTCTTTAACTCTTGGTAATTTCTATGATTCTAGTAGCTTTAATATTTAGCATTTGGGGTTCTAGGCGAGCCTATAAGGGCTTGTTTAAGAGTTATCAGGCAGATGGCACAAATTTACCTCTTTTATGGTCCCAGTAAGTTGGAGAGGGAGAGAAAGAAAACCAACAGTAAGGGCCATGGGTTCTGAGTGACAGACATAAGCTACTCTGTTTAAATGA...
Task1_train_10831	This variant impacts the gene GRM1 (glutamate metabotropic receptor 1) on Chromosome 6. Is the change likely to result in a pathogenic outcome?	Pathogenic; Cerebellar ataxia	AGACCCCGTCTCAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAGCACAAAAGCTAAACAAATTGCTTACTATAGTAAGGGATAGTTATGCTAGGCAGATACATTTTCTCTGAGCAGAAGACTATTCATTTTATATGGAGTTTTTAGAAAGTGTGGAGTTTAGGGATTGAAAACCTTGCAGCTTCTGAGAGCTGGTTGACATCACCTGTAGCAATACGATTACTCACATGAGACTGTTGATTAGTTGGCACTCATTTATTGAAGTGATTCTGATCCTGCCTGAGTGATTATCAGAAGTAAGGGCTGACAGTGCTTGCTTG...	AGACCCCGTCTCAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAGCACAAAAGCTAAACAAATTGCTTACTATAGTAAGGGATAGTTATGCTAGGCAGATACATTTTCTCTGAGCAGAAGACTATTCATTTTATATGGAGTTTTTAGAAAGTGTGGAGTTTAGGGATTGAAAACCTTGCAGCTTCTGAGAGCTGGTTGACATCACCTGTAGCAATACGATTACTCACATGAGACTGTTGATTAGTTGGCACTCATTTATTGAAGTGATTCTGATCCTGCCTGAGTGATTATCAGAAGTAAGGGCTGACAGTGCTTGCTTG...
Task1_train_10832	Given this context: Chromosome 6, gene TAB2 (TGF-beta activated kinase 1 (MAP3K7) binding protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?	Pathogenic; Congenital heart defects, multiple types, 2	TTAACTCTCACCTTTATATTCTTCTTTACTCGTGCCATTCTCTTCACCAAGAATTGTTGTTGTTGTCGTTGTTGTTGTTCAAGTTCTACATATTCTATGAAAACCATCAGGCCATACCTTCCTCATTAACTCAGTCCTTTCTTCGGTAGCCTACAATATTAATTCTCTATTGAACTTCATTACCACTTAATATTTGGCATGTACTCATGTTACCTTTTCAGAAATCTGTGGTTTGTCTCCCTTTCTAGGGGAAAAGTTTGGTTTTATATGTCTTTGATTCTTCCACAGGCTCACAGTGCTATGCATATAGTATGTGTTTG...	TTAACTCTCACCTTTATATTCTTCTTTACTCGTGCCATTCTCTTCACCAAGAATTGTTGTTGTTGTCGTTGTTGTTGTTCAAGTTCTACATATTCTATGAAAACCATCAGGCCATACCTTCCTCATTAACTCAGTCCTTTCTTCGGTAGCCTACAATATTAATTCTCTATTGAACTTCATTACCACTTAATATTTGGCATGTACTCATGTTACCTTTTCAGAAATCTGTGGTTTGTCTCCCTTTCTAGGGGAAAAGTTTGGTTTTATATGTCTTTGATTCTTCCACAGGCTCACAGTGCTATGCATATAGTATGTGTTTG...
Task1_train_10833	The gene LATS1 (large tumor suppressor kinase 1) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?	Pathogenic; Myoepithelial tumor	CAGCTACTCTGGAGGCTGACGCTGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGGGAGGTGGAGGTTGCAGTAAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAAGACTCTGTCTCAAAGAGAAAAAAAAAAAAAAATTAAAAGAGGTAAAGTGGCAATGAAAAATAACCAATAGGCCAGGCGCGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCATGGCCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCT...	CAGCTACTCTGGAGGCTGACGCTGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGGGAGGTGGAGGTTGCAGTAAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAAGACTCTGTCTCAAAGAGAAAAAAAAAAAAAAATTAAAAGAGGTAAAGTGGCAATGAAAAATAACCAATAGGCCAGGCGCGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCATGGCCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCT...
Task1_train_10834	The gene IYD (iodotyrosine deiodinase) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.	Pathogenic; Iodotyrosine deiodination defect	TGTAGATCTGGTATTTTTCATGAGTTCTGCAAAAATCTCAGATGCTATCTTTTCAAATATTGCCTCCACCATATACTCTTTGAATCAAATGATCAAATGTATATTAGACATTCTCACTCTTCACTCTGCTCTATTTTTTCTTGCCCTTTCCTCTATATTTTCTATCTTTTTGTCTCTCCTTGCCCAATTCTAAGTGTTTTCTTCTGACTTACCTCCCAGTTCATTAATTTTTCTGTAGCTAGTGTAACCTGCTAGTCAACCATCCTTTTAAGTTCTTAATTCTATTATTTTTCAATTCCAGAAGTTCTCTATTTTTTCAG...	TGTAGATCTGGTATTTTTCATGAGTTCTGCAAAAATCTCAGATGCTATCTTTTCAAATATTGCCTCCACCATATACTCTTTGAATCAAATGATCAAATGTATATTAGACATTCTCACTCTTCACTCTGCTCTATTTTTTCTTGCCCTTTCCTCTATATTTTCTATCTTTTTGTCTCTCCTTGCCCAATTCTAAGTGTTTTCTTCTGACTTACCTCCCAGTTCATTAATTTTTCTGTAGCTAGTGTAACCTGCTAGTCAACCATCCTTTTAAGTTCTTAATTCTATTATTTTTCAATTCCAGAAGTTCTCTATTTTTTCAG...
Task1_train_10835	A mutation found in RMND1 (required for meiotic nuclear division 1 homolog) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?	Pathogenic; Mitochondrial disease	AGTTTTTGTGGGTACCCTTGGCATACAGGTAGGTACCTCAAATGGAAGACAGCTACTGAAGAACTCTCGCTGGAAGACATCAGATGTTTATCCTAGCACTGTTAACTGCAGATAAATATGTCCATCAGTTAGTACAGATGAATGTATTCTCTTGGTATAATACTGTGTAGCAGTTAAGTGAGTTGCAAAACGAAAGGATATGTGTGAAAAAAAAGTTGACAGGTGAGGACTATAGTGGGGCATCGGGTTATGCATAAAAGTAAGGCAATGAAGGTAAAGATTTGATTTTTAAATGTTGTCAACCCAAGGAGGTAAATATG...	AGTTTTTGTGGGTACCCTTGGCATACAGGTAGGTACCTCAAATGGAAGACAGCTACTGAAGAACTCTCGCTGGAAGACATCAGATGTTTATCCTAGCACTGTTAACTGCAGATAAATATGTCCATCAGTTAGTACAGATGAATGTATTCTCTTGGTATAATACTGTGTAGCAGTTAAGTGAGTTGCAAAACGAAAGGATATGTGTGAAAAAAAAGTTGACAGGTGAGGACTATAGTGGGGCATCGGGTTATGCATAAAAGTAAGGCAATGAAGGTAAAGATTTGATTTTTAAATGTTGTCAACCCAAGGAGGTAAATATG...
Task1_train_10836	This mutation occurs in RMND1 (required for meiotic nuclear division 1 homolog) on Chromosome 6. Does this change lead to a known medical condition, or is it benign?	Pathogenic; Combined oxidative phosphorylation defect type 11	TACTGAAGAACTCTCGCTGGAAGACATCAGATGTTTATCCTAGCACTGTTAACTGCAGATAAATATGTCCATCAGTTAGTACAGATGAATGTATTCTCTTGGTATAATACTGTGTAGCAGTTAAGTGAGTTGCAAAACGAAAGGATATGTGTGAAAAAAAAGTTGACAGGTGAGGACTATAGTGGGGCATCGGGTTATGCATAAAAGTAAGGCAATGAAGGTAAAGATTTGATTTTTAAATGTTGTCAACCCAAGGAGGTAAATATGTAGATGTTAAATTCTTTGTGCTTGGTATTTTTTAAATTTCCCCAAAATATCTC...	TACTGAAGAACTCTCGCTGGAAGACATCAGATGTTTATCCTAGCACTGTTAACTGCAGATAAATATGTCCATCAGTTAGTACAGATGAATGTATTCTCTTGGTATAATACTGTGTAGCAGTTAAGTGAGTTGCAAAACGAAAGGATATGTGTGAAAAAAAAGTTGACAGGTGAGGACTATAGTGGGGCATCGGGTTATGCATAAAAGTAAGGCAATGAAGGTAAAGATTTGATTTTTAAATGTTGTCAACCCAAGGAGGTAAATATGTAGATGTTAAATTCTTTGTGCTTGGTATTTTTTAAATTTCCCCAAAATATCTC...
Task1_train_10837	This variant affects the gene RMND1 (required for meiotic nuclear division 1 homolog) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.	Pathogenic; Combined oxidative phosphorylation defect type 11	ACACACAGGCTCAGAGAGGAGGTGGGACGGAGCAGAGCAGCATCTCAGAATAAACAGCCAGTAGCTGCGTGGCTGCAGATGTGGTCAAGCAGTGGGCAAGCAGGATAAAGAGGCAAGCAGGGGACAATCCAGAAGGGAACTTTATGCAGTGATAGAGAATTTGTTCATAGTCCGTGGAAATTTAGGCAGGAGAGTGTAGTGGTCAGAAATGGCCACTGAAGAATGACCCTGCTTACAATAGACAAACAGACTGGTGGTGGGTGAGCAGGCAGGCAGGGAGACAATAAGCTGTTACAATAGGCAGGGATAAGGTTTCAGGA...	ACACACAGGCTCAGAGAGGAGGTGGGACGGAGCAGAGCAGCATCTCAGAATAAACAGCCAGTAGCTGCGTGGCTGCAGATGTGGTCAAGCAGTGGGCAAGCAGGATAAAGAGGCAAGCAGGGGACAATCCAGAAGGGAACTTTATGCAGTGATAGAGAATTTGTTCATAGTCCGTGGAAATTTAGGCAGGAGAGTGTAGTGGTCAGAAATGGCCACTGAAGAATGACCCTGCTTACAATAGACAAACAGACTGGTGGTGGGTGAGCAGGCAGGCAGGGAGACAATAAGCTGTTACAATAGGCAGGGATAAGGTTTCAGGA...
Task1_train_10838	Located on Chromosome 6, this mutation impacts RMND1 (required for meiotic nuclear division 1 homolog). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?	Pathogenic; Combined oxidative phosphorylation defect type 11	CCAAAACTGTGATTTTTTTTTTTTTTCTAAATTGTTAATTACTACATCCTACATAGGACAGAGTTTGCCTACACAGCCAAAAGCAAAATAAAATCGACTGAAACAACCCAGGGCAGTGAAGCCTGCAATTCTGTGAAGCACAGACCACACAGCTGGCAGCCTTCAGCATCAGCCAACAATACCTCCAGGCAAATTTTCATACCAAGGGGCTCTAGACATAGCTCTGTCTTTCTAAGTCAACTATGCTTGTTTTTGTCACCTAATCACACAAACGGTCTGTTTGGATTATCACAATGATATTTCAACTATCTTCTATGGGA...	CCAAAACTGTGATTTTTTTTTTTTTTCTAAATTGTTAATTACTACATCCTACATAGGACAGAGTTTGCCTACACAGCCAAAAGCAAAATAAAATCGACTGAAACAACCCAGGGCAGTGAAGCCTGCAATTCTGTGAAGCACAGACCACACAGCTGGCAGCCTTCAGCATCAGCCAACAATACCTCCAGGCAAATTTTCATACCAAGGGGCTCTAGACATAGCTCTGTCTTTCTAAGTCAACTATGCTTGTTTTTGTCACCTAATCACACAAACGGTCTGTTTGGATTATCACAATGATATTTCAACTATCTTCTATGGGA...
Task1_train_10839	A mutation in RMND1 (required for meiotic nuclear division 1 homolog), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.	Pathogenic; Mitochondrial disease	AAGCAAAATAAAATCGACTGAAACAACCCAGGGCAGTGAAGCCTGCAATTCTGTGAAGCACAGACCACACAGCTGGCAGCCTTCAGCATCAGCCAACAATACCTCCAGGCAAATTTTCATACCAAGGGGCTCTAGACATAGCTCTGTCTTTCTAAGTCAACTATGCTTGTTTTTGTCACCTAATCACACAAACGGTCTGTTTGGATTATCACAATGATATTTCAACTATCTTCTATGGGATTGAGTCTTAAGAATTTCCACTGTTATAGGAAGGCTTTCAACCTATTTTTGCTACTCTTAGGTAAATTAATAAATGTTCT...	AAGCAAAATAAAATCGACTGAAACAACCCAGGGCAGTGAAGCCTGCAATTCTGTGAAGCACAGACCACACAGCTGGCAGCCTTCAGCATCAGCCAACAATACCTCCAGGCAAATTTTCATACCAAGGGGCTCTAGACATAGCTCTGTCTTTCTAAGTCAACTATGCTTGTTTTTGTCACCTAATCACACAAACGGTCTGTTTGGATTATCACAATGATATTTCAACTATCTTCTATGGGATTGAGTCTTAAGAATTTCCACTGTTATAGGAAGGCTTTCAACCTATTTTTGCTACTCTTAGGTAAATTAATAAATGTTCT...