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_12200 | This sequence variant lies in FLNC, FLNC-AS1 (filamin C| FLNC antisense RNA 1) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hypertrophic cardiomyopathy 26 | GAATGTGGGCACCTCCACGGACGTGTCACTGAAGATCACCGAGAGTGATCTGAGCCAGCTGACCGCCAGCATCCGTGCCCCCTCGGGCAACGAGGAGCCCTGCCTGCTGAAGCGCCTGCCCAACCGGCACATTGGTGAGCGTGGGGCCTCACGGGGACCTCAGGGGTGGGGGCCCACAGGATGCTCTGCCTAACACCCACTTTCCACAGGGATCTCCTTCACCCCCAAGGAGGTCGGGGAGCACGTGGTGAGCGTGCGCAAGAGTGGCAAGCATGTCACCAACAGCCCCTTCAAGATCCTGGTGGGGCCATCTGAGATCG... | GAATGTGGGCACCTCCACGGACGTGTCACTGAAGATCACCGAGAGTGATCTGAGCCAGCTGACCGCCAGCATCCGTGCCCCCTCGGGCAACGAGGAGCCCTGCCTGCTGAAGCGCCTGCCCAACCGGCACATTGGTGAGCGTGGGGCCTCACGGGGACCTCAGGGGTGGGGGCCCACAGGATGCTCTGCCTAACACCCACTTTCCACAGGGATCTCCTTCACCCCCAAGGAGGTCGGGGAGCACGTGGTGAGCGTGCGCAAGAGTGGCAAGCATGTCACCAACAGCCCCTTCAAGATCCTGGTGGGGCCATCTGAGATCG... |
Task1_train_12201 | This mutation occurs in FLNC, FLNC-AS1 (filamin C| FLNC antisense RNA 1) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Dilated Cardiomyopathy, Dominant | GAATGTGGGCACCTCCACGGACGTGTCACTGAAGATCACCGAGAGTGATCTGAGCCAGCTGACCGCCAGCATCCGTGCCCCCTCGGGCAACGAGGAGCCCTGCCTGCTGAAGCGCCTGCCCAACCGGCACATTGGTGAGCGTGGGGCCTCACGGGGACCTCAGGGGTGGGGGCCCACAGGATGCTCTGCCTAACACCCACTTTCCACAGGGATCTCCTTCACCCCCAAGGAGGTCGGGGAGCACGTGGTGAGCGTGCGCAAGAGTGGCAAGCATGTCACCAACAGCCCCTTCAAGATCCTGGTGGGGCCATCTGAGATCG... | GAATGTGGGCACCTCCACGGACGTGTCACTGAAGATCACCGAGAGTGATCTGAGCCAGCTGACCGCCAGCATCCGTGCCCCCTCGGGCAACGAGGAGCCCTGCCTGCTGAAGCGCCTGCCCAACCGGCACATTGGTGAGCGTGGGGCCTCACGGGGACCTCAGGGGTGGGGGCCCACAGGATGCTCTGCCTAACACCCACTTTCCACAGGGATCTCCTTCACCCCCAAGGAGGTCGGGGAGCACGTGGTGAGCGTGCGCAAGAGTGGCAAGCATGTCACCAACAGCCCCTTCAAGATCCTGGTGGGGCCATCTGAGATCG... |
Task1_train_12202 | Consider a variant on Chromosome 7 in gene FLNC, FLNC-AS1 (filamin C| FLNC antisense RNA 1). Determine its clinical classification and disease relevance. | Pathogenic; Myofibrillar myopathy 5 | GAATGTGGGCACCTCCACGGACGTGTCACTGAAGATCACCGAGAGTGATCTGAGCCAGCTGACCGCCAGCATCCGTGCCCCCTCGGGCAACGAGGAGCCCTGCCTGCTGAAGCGCCTGCCCAACCGGCACATTGGTGAGCGTGGGGCCTCACGGGGACCTCAGGGGTGGGGGCCCACAGGATGCTCTGCCTAACACCCACTTTCCACAGGGATCTCCTTCACCCCCAAGGAGGTCGGGGAGCACGTGGTGAGCGTGCGCAAGAGTGGCAAGCATGTCACCAACAGCCCCTTCAAGATCCTGGTGGGGCCATCTGAGATCG... | GAATGTGGGCACCTCCACGGACGTGTCACTGAAGATCACCGAGAGTGATCTGAGCCAGCTGACCGCCAGCATCCGTGCCCCCTCGGGCAACGAGGAGCCCTGCCTGCTGAAGCGCCTGCCCAACCGGCACATTGGTGAGCGTGGGGCCTCACGGGGACCTCAGGGGTGGGGGCCCACAGGATGCTCTGCCTAACACCCACTTTCCACAGGGATCTCCTTCACCCCCAAGGAGGTCGGGGAGCACGTGGTGAGCGTGCGCAAGAGTGGCAAGCATGTCACCAACAGCCCCTTCAAGATCCTGGTGGGGCCATCTGAGATCG... |
Task1_train_12203 | Given a variant located on Chromosome 7 and affecting FLNC, FLNC-AS1 (filamin C| FLNC antisense RNA 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Distal myopathy with posterior leg and anterior hand involvement | GAATGTGGGCACCTCCACGGACGTGTCACTGAAGATCACCGAGAGTGATCTGAGCCAGCTGACCGCCAGCATCCGTGCCCCCTCGGGCAACGAGGAGCCCTGCCTGCTGAAGCGCCTGCCCAACCGGCACATTGGTGAGCGTGGGGCCTCACGGGGACCTCAGGGGTGGGGGCCCACAGGATGCTCTGCCTAACACCCACTTTCCACAGGGATCTCCTTCACCCCCAAGGAGGTCGGGGAGCACGTGGTGAGCGTGCGCAAGAGTGGCAAGCATGTCACCAACAGCCCCTTCAAGATCCTGGTGGGGCCATCTGAGATCG... | GAATGTGGGCACCTCCACGGACGTGTCACTGAAGATCACCGAGAGTGATCTGAGCCAGCTGACCGCCAGCATCCGTGCCCCCTCGGGCAACGAGGAGCCCTGCCTGCTGAAGCGCCTGCCCAACCGGCACATTGGTGAGCGTGGGGCCTCACGGGGACCTCAGGGGTGGGGGCCCACAGGATGCTCTGCCTAACACCCACTTTCCACAGGGATCTCCTTCACCCCCAAGGAGGTCGGGGAGCACGTGGTGAGCGTGCGCAAGAGTGGCAAGCATGTCACCAACAGCCCCTTCAAGATCCTGGTGGGGCCATCTGAGATCG... |
Task1_train_12204 | This genomic variant is located on Chromosome 7, within the FLNC, FLNC-AS1 (filamin C| FLNC antisense RNA 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Restrictive cardiomyopathy | CAGGTGACTATGAGGTCTCCATCAAGTTCAATGATGAGCACATCCCAGACAGCCCCTTTGTGGTGCCTGTGGCCTCCCTCTCGGATGACGCTCGCCGTCTCACTGTCACCAGCCTCCAGGTTTGTGCCCAGGGTGGGGGTGGAGGGTTTCTGCTATCTGAGAGATGGGCAGGAGTTGAGGACAGCAGGTCCATGGGGCCAGGGATTTAGCAGTGACCTTGGAAGGGCCAGTTAGGAGTCCCTTCTCATAAGGCACGAGGCAGGGCCCTTGGGGACGGTGGGCTCCCACCCTGGGGGCTTGCCCGTGCACTCAGGCATGCC... | CAGGTGACTATGAGGTCTCCATCAAGTTCAATGATGAGCACATCCCAGACAGCCCCTTTGTGGTGCCTGTGGCCTCCCTCTCGGATGACGCTCGCCGTCTCACTGTCACCAGCCTCCAGGTTTGTGCCCAGGGTGGGGGTGGAGGGTTTCTGCTATCTGAGAGATGGGCAGGAGTTGAGGACAGCAGGTCCATGGGGCCAGGGATTTAGCAGTGACCTTGGAAGGGCCAGTTAGGAGTCCCTTCTCATAAGGCACGAGGCAGGGCCCTTGGGGACGGTGGGCTCCCACCCTGGGGGCTTGCCCGTGCACTCAGGCATGCC... |
Task1_train_12205 | This variant affects the gene TNPO3 (transportin 3) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal dominant limb-girdle muscular dystrophy type 1F | GTTCCTTTGTGATATCTGCCTGTTCTTTGTGTTAAAAAACCTTGCTCTTGTTGCTGTTTAATTTACTTATATATTTTTTATATAAGTATATCTAAGAATTCTCTTTATGCCTTTTCTATGCACAAAAATTGTCTACTCCCTTTACTTCCTTCCTTTCTAAAATAAAAATTCTACAGACTTCCTCTGGGTTCTTATTTTCAGTTTAATTGTTGTCCTTTGGGTCAGCACTAATATTTCTTCATCCCTTTCTTAAGTGGAATGTATACTTCAGTCATAGTTTTGGGCTGTAAAATTACTCTTTTATACCTAATTTTTTTTAC... | GTTCCTTTGTGATATCTGCCTGTTCTTTGTGTTAAAAAACCTTGCTCTTGTTGCTGTTTAATTTACTTATATATTTTTTATATAAGTATATCTAAGAATTCTCTTTATGCCTTTTCTATGCACAAAAATTGTCTACTCCCTTTACTTCCTTCCTTTCTAAAATAAAAATTCTACAGACTTCCTCTGGGTTCTTATTTTCAGTTTAATTGTTGTCCTTTGGGTCAGCACTAATATTTCTTCATCCCTTTCTTAAGTGGAATGTATACTTCAGTCATAGTTTTGGGCTGTAAAATTACTCTTTTATACCTAATTTTTTTTAC... |
Task1_train_12206 | A variant on Chromosome 7 in gene SMO (smoothened, frizzled class receptor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hamartoma of hypothalamus | TGCTCTGTGAGACAAGGTCCAGGCTCTCTGGGTTGGGCAGGACCGGGTATAGGGCAGGGTCCAGTGGGGAGCAGGGGAGCCCAGAGCTTTGTCTCCTGGAGACCCTGAGCCTACAGCCATGGGGTCAACAGGACACAAACTCAAACTGCAGCTCACTGGCTGGATCCGTCTATTAGGGATTCTCTATTTATTTATCAATGATCACATGTTCAGCAAAATGTTTTGAGCACTGGCTGTTGGGTGTTGTGGTGTTACGGGCATCACGGATGACAGGAGCCTATCAGGAAGTTTCTCATGTATGTTGGGAGTTAAGGCGCGAG... | TGCTCTGTGAGACAAGGTCCAGGCTCTCTGGGTTGGGCAGGACCGGGTATAGGGCAGGGTCCAGTGGGGAGCAGGGGAGCCCAGAGCTTTGTCTCCTGGAGACCCTGAGCCTACAGCCATGGGGTCAACAGGACACAAACTCAAACTGCAGCTCACTGGCTGGATCCGTCTATTAGGGATTCTCTATTTATTTATCAATGATCACATGTTCAGCAAAATGTTTTGAGCACTGGCTGTTGGGTGTTGTGGTGTTACGGGCATCACGGATGACAGGAGCCTATCAGGAAGTTTCTCATGTATGTTGGGAGTTAAGGCGCGAG... |
Task1_train_12207 | A genomic change on Chromosome 7 affects SMO (smoothened, frizzled class receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Curry-Jones syndrome | GGTGGTGGGCACCTGTATTCTCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTGCAGCCTGGGCGACAGAGCCAGACTCTGTCTCTCTCTTTCTATATATATAATATATGTTTATTCATTTAACCCTTAAACCATACCATAAGGTAAGTACTACCATCTTAGAAATGGGGAAACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCC... | GGTGGTGGGCACCTGTATTCTCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTGCAGCCTGGGCGACAGAGCCAGACTCTGTCTCTCTCTTTCTATATATATAATATATGTTTATTCATTTAACCCTTAAACCATACCATAAGGTAAGTACTACCATCTTAGAAATGGGGAAACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCC... |
Task1_train_12208 | Mutation context: Chromosome 7, Gene SMO (smoothened, frizzled class receptor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hamartoma of hypothalamus | CTCTAGGCAGACGAAACACCGTGAGCACTTGCTGCGGGACAGCACCTTTGTACTGGCCAGAAAAATCCATCCCTCTCTCCAGGGCCTTGGCCCAGGGCTCACAGCTTGTTTTTTTTGTTTGTTTTTGTTTTTGAGACAGAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTTCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCACCCTCCCCCATAGCTAAAATTACAGGCATGCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTA... | CTCTAGGCAGACGAAACACCGTGAGCACTTGCTGCGGGACAGCACCTTTGTACTGGCCAGAAAAATCCATCCCTCTCTCCAGGGCCTTGGCCCAGGGCTCACAGCTTGTTTTTTTTGTTTGTTTTTGTTTTTGAGACAGAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTTCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCACCCTCCCCCATAGCTAAAATTACAGGCATGCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTA... |
Task1_train_12209 | This variant affects the gene SMO (smoothened, frizzled class receptor) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Basal cell carcinoma, somatic | AAAATTATATGGATAGCGCTGTTCTTGAGTCTGTTTTATGTCTTTCCCATCAGAACAGCTTTGATCTGCCCCCTTCTTCAGGGGCAGCTGGGCCACGACCGAGGCTCCCTCTTCTCAAGTGTCTGTCTAGGCTCTGCCCTGGTCTTCTCACCATTTCTCCAGTGTCTCTAGCTCCCCAGGTTTTCATTTAGCACAGGGGTAATCAGACTTGGGACTCCAGAGCCTTAGGACCCTCCTCCCACTCACCCATCCTTCCCAGCAGGGCAGCCTCACCCCTGCTAATGTCTGAGGTCCCCCTTCTGTTCAGGAGTCATGACTCT... | AAAATTATATGGATAGCGCTGTTCTTGAGTCTGTTTTATGTCTTTCCCATCAGAACAGCTTTGATCTGCCCCCTTCTTCAGGGGCAGCTGGGCCACGACCGAGGCTCCCTCTTCTCAAGTGTCTGTCTAGGCTCTGCCCTGGTCTTCTCACCATTTCTCCAGTGTCTCTAGCTCCCCAGGTTTTCATTTAGCACAGGGGTAATCAGACTTGGGACTCCAGAGCCTTAGGACCCTCCTCCCACTCACCCATCCTTCCCAGCAGGGCAGCCTCACCCCTGCTAATGTCTGAGGTCCCCCTTCTGTTCAGGAGTCATGACTCT... |
Task1_train_12210 | Here is a genetic alteration in SMO (smoothened, frizzled class receptor) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Basal cell carcinoma, somatic | GACAAGTTAGCCATAGGGACAAGGACAAGGGGTGTGTGTAGGTGGTAGTGGTAGTGGCAGCTCAAAAGAAGGGGGTCTACTCGGGGGGAAGAATTCAGTCAAGTTCATGCCGGGACTGGTTCCTCCTGCCCACTACGTCCCACGTGGTCCCTCCCACAGTTGCTTCAAGTGCCCTTCTTATTTTATTTTAGAGAAAGCAGTTCTTGGACTGAGCCCAGCATGAGTTCACCCCAGCCCCAGCTGGGTGAACTTTGAGGCCCAGTGGGGCAGACTCTCTCCTCCCCACTGCTGCTGCGGGACTGGGCTTGGTAACGTCCTGT... | GACAAGTTAGCCATAGGGACAAGGACAAGGGGTGTGTGTAGGTGGTAGTGGTAGTGGCAGCTCAAAAGAAGGGGGTCTACTCGGGGGGAAGAATTCAGTCAAGTTCATGCCGGGACTGGTTCCTCCTGCCCACTACGTCCCACGTGGTCCCTCCCACAGTTGCTTCAAGTGCCCTTCTTATTTTATTTTAGAGAAAGCAGTTCTTGGACTGAGCCCAGCATGAGTTCACCCCAGCCCCAGCTGGGTGAACTTTGAGGCCCAGTGGGGCAGACTCTCTCCTCCCCACTGCTGCTGCGGGACTGGGCTTGGTAACGTCCTGT... |
Task1_train_12211 | This is a variant in SMO (smoothened, frizzled class receptor), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Hamartoma of hypothalamus | GTGGTAGTGGTAGTGGCAGCTCAAAAGAAGGGGGTCTACTCGGGGGGAAGAATTCAGTCAAGTTCATGCCGGGACTGGTTCCTCCTGCCCACTACGTCCCACGTGGTCCCTCCCACAGTTGCTTCAAGTGCCCTTCTTATTTTATTTTAGAGAAAGCAGTTCTTGGACTGAGCCCAGCATGAGTTCACCCCAGCCCCAGCTGGGTGAACTTTGAGGCCCAGTGGGGCAGACTCTCTCCTCCCCACTGCTGCTGCGGGACTGGGCTTGGTAACGTCCTGTCCTGCCCCTGTCCTCCACAGGCATTTTTGGCTTCCTGGCCT... | GTGGTAGTGGTAGTGGCAGCTCAAAAGAAGGGGGTCTACTCGGGGGGAAGAATTCAGTCAAGTTCATGCCGGGACTGGTTCCTCCTGCCCACTACGTCCCACGTGGTCCCTCCCACAGTTGCTTCAAGTGCCCTTCTTATTTTATTTTAGAGAAAGCAGTTCTTGGACTGAGCCCAGCATGAGTTCACCCCAGCCCCAGCTGGGTGAACTTTGAGGCCCAGTGGGGCAGACTCTCTCCTCCCCACTGCTGCTGCGGGACTGGGCTTGGTAACGTCCTGTCCTGCCCCTGTCCTCCACAGGCATTTTTGGCTTCCTGGCCT... |
Task1_train_12212 | A mutation in SMO (smoothened, frizzled class receptor), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hamartoma of hypothalamus | TGGTAGTGGTAGTGGCAGCTCAAAAGAAGGGGGTCTACTCGGGGGGAAGAATTCAGTCAAGTTCATGCCGGGACTGGTTCCTCCTGCCCACTACGTCCCACGTGGTCCCTCCCACAGTTGCTTCAAGTGCCCTTCTTATTTTATTTTAGAGAAAGCAGTTCTTGGACTGAGCCCAGCATGAGTTCACCCCAGCCCCAGCTGGGTGAACTTTGAGGCCCAGTGGGGCAGACTCTCTCCTCCCCACTGCTGCTGCGGGACTGGGCTTGGTAACGTCCTGTCCTGCCCCTGTCCTCCACAGGCATTTTTGGCTTCCTGGCCTT... | TGGTAGTGGTAGTGGCAGCTCAAAAGAAGGGGGTCTACTCGGGGGGAAGAATTCAGTCAAGTTCATGCCGGGACTGGTTCCTCCTGCCCACTACGTCCCACGTGGTCCCTCCCACAGTTGCTTCAAGTGCCCTTCTTATTTTATTTTAGAGAAAGCAGTTCTTGGACTGAGCCCAGCATGAGTTCACCCCAGCCCCAGCTGGGTGAACTTTGAGGCCCAGTGGGGCAGACTCTCTCCTCCCCACTGCTGCTGCGGGACTGGGCTTGGTAACGTCCTGTCCTGCCCCTGTCCTCCACAGGCATTTTTGGCTTCCTGGCCTT... |
Task1_train_12213 | A mutation in BPGM (bisphosphoglycerate mutase), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Deficiency of bisphosphoglycerate mutase | CCAGGCTCTTCTGGTTCCCTGGCACTTCCCTGCTGCACATGCACAGCAACCTGGTACTTAACAAGAAAGGAAAATCATCATCCTAACTGCTGTAGCCTTTCAACTTCAGTCATGCACCACCTAATGATGTTTCAGTCAAGCATGGATCGTGTAAATGATGGTGGCCCTGTAAGATGGTAATGGAGCATATATAGACATCTGATATGTGGCACTTGACATTGGCATTGCAGATCGAGTAGGGGAAATGACTGATATTCAGTAATTGTGCTGGGATACTTGGCTTTCCATATGAAAAAACATAAGTAACAATATGTATACCA... | CCAGGCTCTTCTGGTTCCCTGGCACTTCCCTGCTGCACATGCACAGCAACCTGGTACTTAACAAGAAAGGAAAATCATCATCCTAACTGCTGTAGCCTTTCAACTTCAGTCATGCACCACCTAATGATGTTTCAGTCAAGCATGGATCGTGTAAATGATGGTGGCCCTGTAAGATGGTAATGGAGCATATATAGACATCTGATATGTGGCACTTGACATTGGCATTGCAGATCGAGTAGGGGAAATGACTGATATTCAGTAATTGTGCTGGGATACTTGGCTTTCCATATGAAAAAACATAAGTAACAATATGTATACCA... |
Task1_train_12214 | This sequence change occurs on Chromosome 7, altering BPGM (bisphosphoglycerate mutase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TAACTGCTGTAGCCTTTCAACTTCAGTCATGCACCACCTAATGATGTTTCAGTCAAGCATGGATCGTGTAAATGATGGTGGCCCTGTAAGATGGTAATGGAGCATATATAGACATCTGATATGTGGCACTTGACATTGGCATTGCAGATCGAGTAGGGGAAATGACTGATATTCAGTAATTGTGCTGGGATACTTGGCTTTCCATATGAAAAAACATAAGTAACAATATGTATACCATCTAGGTTTGTGTAAGTACATTCTATGTTGTTTGCACGACAAAATCACCTAATGATGCATTTGCCAGGACATATTCCCTTCAT... | TAACTGCTGTAGCCTTTCAACTTCAGTCATGCACCACCTAATGATGTTTCAGTCAAGCATGGATCGTGTAAATGATGGTGGCCCTGTAAGATGGTAATGGAGCATATATAGACATCTGATATGTGGCACTTGACATTGGCATTGCAGATCGAGTAGGGGAAATGACTGATATTCAGTAATTGTGCTGGGATACTTGGCTTTCCATATGAAAAAACATAAGTAACAATATGTATACCATCTAGGTTTGTGTAAGTACATTCTATGTTGTTTGCACGACAAAATCACCTAATGATGCATTTGCCAGGACATATTCCCTTCAT... |
Task1_train_12215 | This variant affects gene BPGM (bisphosphoglycerate mutase) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Deficiency of bisphosphoglycerate mutase | AACTGCTGTAGCCTTTCAACTTCAGTCATGCACCACCTAATGATGTTTCAGTCAAGCATGGATCGTGTAAATGATGGTGGCCCTGTAAGATGGTAATGGAGCATATATAGACATCTGATATGTGGCACTTGACATTGGCATTGCAGATCGAGTAGGGGAAATGACTGATATTCAGTAATTGTGCTGGGATACTTGGCTTTCCATATGAAAAAACATAAGTAACAATATGTATACCATCTAGGTTTGTGTAAGTACATTCTATGTTGTTTGCACGACAAAATCACCTAATGATGCATTTGCCAGGACATATTCCCTTCATT... | AACTGCTGTAGCCTTTCAACTTCAGTCATGCACCACCTAATGATGTTTCAGTCAAGCATGGATCGTGTAAATGATGGTGGCCCTGTAAGATGGTAATGGAGCATATATAGACATCTGATATGTGGCACTTGACATTGGCATTGCAGATCGAGTAGGGGAAATGACTGATATTCAGTAATTGTGCTGGGATACTTGGCTTTCCATATGAAAAAACATAAGTAACAATATGTATACCATCTAGGTTTGTGTAAGTACATTCTATGTTGTTTGCACGACAAAATCACCTAATGATGCATTTGCCAGGACATATTCCCTTCATT... |
Task1_train_12216 | Given this variant in gene NUP205 (nucleoporin 205) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Nephrotic syndrome, type 13 | GGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGACTGAGGCTGCAGTGAGCTGTGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCTTGTCTCCAATAAATGAATGAAAGAGTGAAGCAAGACCTTGTCTCCAATAAATAAATAAATAAATGAATGAATGTAAGTAAGTAAGTAAAAAGGAAAGCCTGGTATGTTAATAAGATTATGATTTTCAGGGTTGCTTACAGACACCTGGTTTGAACTCTAGCTTGACCATTTTAACAGCTATATGACTTTGAACAACTTACTTAACTTCCGAGCCTCAATT... | GGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGACTGAGGCTGCAGTGAGCTGTGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCTTGTCTCCAATAAATGAATGAAAGAGTGAAGCAAGACCTTGTCTCCAATAAATAAATAAATAAATGAATGAATGTAAGTAAGTAAGTAAAAAGGAAAGCCTGGTATGTTAATAAGATTATGATTTTCAGGGTTGCTTACAGACACCTGGTTTGAACTCTAGCTTGACCATTTTAACAGCTATATGACTTTGAACAACTTACTTAACTTCCGAGCCTCAATT... |
Task1_train_12217 | Here is a mutation in AKR1D1 (aldo-keto reductase family 1 member D1) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Congenital bile acid synthesis defect 2 | CTGAGTTCATGTAATGTGCCATTGCTATTGCCTCATCAGGACTGTCTTCACTGCAGCTCAGCAGCACCTGAGAGGCAATGTGGGGGTGATTAAGAGCCTAGACTGGTGCAAGGTTGCCCAGGTCAGAGGCCCAGATCTGTCACTATTGGCTGAGTTGCCTAGCATTTCTGGACCTCAATTTTTTTTCTCTGTAAAATGGGGATAATAATGTCAACTATTTCATAAAGTTGTTATGAGTTCACATTTACAAAGCACTCACACCGAACCTGGCACAAAGCTAATACTATGTATGTTTGTTGAATAAAAGTAAATTAAAATAT... | CTGAGTTCATGTAATGTGCCATTGCTATTGCCTCATCAGGACTGTCTTCACTGCAGCTCAGCAGCACCTGAGAGGCAATGTGGGGGTGATTAAGAGCCTAGACTGGTGCAAGGTTGCCCAGGTCAGAGGCCCAGATCTGTCACTATTGGCTGAGTTGCCTAGCATTTCTGGACCTCAATTTTTTTTCTCTGTAAAATGGGGATAATAATGTCAACTATTTCATAAAGTTGTTATGAGTTCACATTTACAAAGCACTCACACCGAACCTGGCACAAAGCTAATACTATGTATGTTTGTTGAATAAAAGTAAATTAAAATAT... |
Task1_train_12218 | The variant affects gene AKR1D1 (aldo-keto reductase family 1 member D1), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Congenital bile acid synthesis defect 2 | TGGGGAGTGGGGGCAGGATTTACATGACACAAAGAAGCCTCAGCTGGGAGTCAGGAAGGCTCATGATTGCTCCACCTAAATCTCATCATGGGACCCTGTGCAAGTCTTTAGACTTCTTTCTATTGGTGTCACTTTAAAAAACGGACTTGGGGCCTGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGATCACGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACATGCCTGTAATCCTAGCTAC... | TGGGGAGTGGGGGCAGGATTTACATGACACAAAGAAGCCTCAGCTGGGAGTCAGGAAGGCTCATGATTGCTCCACCTAAATCTCATCATGGGACCCTGTGCAAGTCTTTAGACTTCTTTCTATTGGTGTCACTTTAAAAAACGGACTTGGGGCCTGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGATCACGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACATGCCTGTAATCCTAGCTAC... |
Task1_train_12219 | This variant lies on Chromosome 7 and affects the gene AKR1D1 (aldo-keto reductase family 1 member D1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Congenital bile acid synthesis defect | TGGGGAGTGGGGGCAGGATTTACATGACACAAAGAAGCCTCAGCTGGGAGTCAGGAAGGCTCATGATTGCTCCACCTAAATCTCATCATGGGACCCTGTGCAAGTCTTTAGACTTCTTTCTATTGGTGTCACTTTAAAAAACGGACTTGGGGCCTGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGATCACGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACATGCCTGTAATCCTAGCTAC... | TGGGGAGTGGGGGCAGGATTTACATGACACAAAGAAGCCTCAGCTGGGAGTCAGGAAGGCTCATGATTGCTCCACCTAAATCTCATCATGGGACCCTGTGCAAGTCTTTAGACTTCTTTCTATTGGTGTCACTTTAAAAAACGGACTTGGGGCCTGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGATCACGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACATGCCTGTAATCCTAGCTAC... |
Task1_train_12220 | This mutation is located in gene ATP6V0A4 (ATPase H+ transporting V0 subunit a4) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Distal renal tubular acidosis | ATAAGATACTATTATTTTGTAAATTTTAAAAGCACTAAAAAAAAAAAAAGATAATTATACTTAATTCTATCAGTATAGTTACCATGAAGATAATAACCTACATGGATAAAGTCCATTCAGACAAAACAGTCAGTGGGGCCGGGTGCTCATGCCTGTAACCCCAGCACTTTGAGAGGCTGAGGCGGGAGGATAGCTTGAGCCCAGGAATTCAAGACCAGCCCGGGCAACACAGTGAGACACCCCCTACCCACGGCAACTCTACAAAAAAACTAAAAAATATTAGCTGGGCATGGTGGTACACACCTGTAGTCCCAGCTCGT... | ATAAGATACTATTATTTTGTAAATTTTAAAAGCACTAAAAAAAAAAAAAGATAATTATACTTAATTCTATCAGTATAGTTACCATGAAGATAATAACCTACATGGATAAAGTCCATTCAGACAAAACAGTCAGTGGGGCCGGGTGCTCATGCCTGTAACCCCAGCACTTTGAGAGGCTGAGGCGGGAGGATAGCTTGAGCCCAGGAATTCAAGACCAGCCCGGGCAACACAGTGAGACACCCCCTACCCACGGCAACTCTACAAAAAAACTAAAAAATATTAGCTGGGCATGGTGGTACACACCTGTAGTCCCAGCTCGT... |
Task1_train_12221 | This sequence variant lies in ATP6V0A4 (ATPase H+ transporting V0 subunit a4) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | AGCACTTTGGGAGGCTGAGGCAGGTGGATCAATTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCACCTCTCCTAAAAATACAAAACTTAGCTGGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGTACTCTAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAAAATAAATAAACCCAGGATTGAATCTTTTCTAACTGAAA... | AGCACTTTGGGAGGCTGAGGCAGGTGGATCAATTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCACCTCTCCTAAAAATACAAAACTTAGCTGGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGTACTCTAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAAAATAAATAAACCCAGGATTGAATCTTTTCTAACTGAAA... |
Task1_train_12222 | A mutation in KIAA1549 (KIAA1549), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Retinitis pigmentosa 86 | ACAACAAAACCAAATAACCCTCTGACTAGGGAGAAGGAAAAAAACCTTGAGGATATTTCTCTCTCTCTCTGTTTTCCAGTTAACCTCGAAAAAAGTCCCACTGTGAAGTCTGAGAGAACGGGGCTTACGTATAGAGAGGAAAAACACGGAGTGTGTTTCCAGAGGTGGCACTCGGCAGCACCCTGGCTGACAGCACTCAAGTCTCCCCTCAGAAGGGGTGGCACCCCACCCCACCCACTTCATGACCTAGAGGGCCCTGGTGCATCAGCCATCAGGCATCAGGCACTGATACCACACAGGGCGGCAGCCAGTGCTGCTGC... | ACAACAAAACCAAATAACCCTCTGACTAGGGAGAAGGAAAAAAACCTTGAGGATATTTCTCTCTCTCTCTGTTTTCCAGTTAACCTCGAAAAAAGTCCCACTGTGAAGTCTGAGAGAACGGGGCTTACGTATAGAGAGGAAAAACACGGAGTGTGTTTCCAGAGGTGGCACTCGGCAGCACCCTGGCTGACAGCACTCAAGTCTCCCCTCAGAAGGGGTGGCACCCCACCCCACCCACTTCATGACCTAGAGGGCCCTGGTGCATCAGCCATCAGGCATCAGGCACTGATACCACACAGGGCGGCAGCCAGTGCTGCTGC... |
Task1_train_12223 | Here is a variant affecting IFT56 (intraflagellar transport 56) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Biliary, renal, neurologic, and skeletal syndrome | CTTAATTGTATTTTTGTGGTCATAGAATGTGCTCTGGGCTGGGCGAGCTGGCTCACACCTATAATCCCAACATTTCAGAAGGCTGAAAAGTGGGAGGATCACTTGAGCTCAGGAGTTCGAGACCAACCTAGGCAATATAGTGAGACACCATCTCTACAAAAATTTTTTTAAAATAGCTGAGTATAGTGGCATGTGCCATTTGTTGAGGCTTGCCTTACTGACCTGTGTGTAGCATGGTCATATATGCTTAAAAAGAATGTGTATCATACAGTTGTTAATTACTCTGTTTAAATCTTCTATATCCTTACCAACTTTTTGTC... | CTTAATTGTATTTTTGTGGTCATAGAATGTGCTCTGGGCTGGGCGAGCTGGCTCACACCTATAATCCCAACATTTCAGAAGGCTGAAAAGTGGGAGGATCACTTGAGCTCAGGAGTTCGAGACCAACCTAGGCAATATAGTGAGACACCATCTCTACAAAAATTTTTTTAAAATAGCTGAGTATAGTGGCATGTGCCATTTGTTGAGGCTTGCCTTACTGACCTGTGTGTAGCATGGTCATATATGCTTAAAAAGAATGTGTATCATACAGTTGTTAATTACTCTGTTTAAATCTTCTATATCCTTACCAACTTTTTGTC... |
Task1_train_12224 | A variant affecting Chromosome 7, within the gene TBXAS1 (thromboxane A synthase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Ghosal hematodiaphyseal dysplasia | GTCAAACATAAGCCTAAGCTTTGAGCCAGGGGAACAGGGAGAATGGCTATGGGTTGACAGAAATAAAACGTTGGGTGGGGGAGTGGTTCAGGGAGAAGACAAGTTTTATTTTAAGTATGTTGCTTGGGATTTGCCAGAGTGACATGCCAGTGGAAATGGCCAACAGACATTTGTAGATATAGGTCAGGACTTTATGGTCTACGGTTATTTTTTCTCACATTGGGTTTTCTCAGAAGCCAGATGGCTTATTCTGCTAAGTCACGGGGACACTGACTCCAGACCCAACGCCAGGAGCCGGAACACCCTGCATGGGAAGAACC... | GTCAAACATAAGCCTAAGCTTTGAGCCAGGGGAACAGGGAGAATGGCTATGGGTTGACAGAAATAAAACGTTGGGTGGGGGAGTGGTTCAGGGAGAAGACAAGTTTTATTTTAAGTATGTTGCTTGGGATTTGCCAGAGTGACATGCCAGTGGAAATGGCCAACAGACATTTGTAGATATAGGTCAGGACTTTATGGTCTACGGTTATTTTTTCTCACATTGGGTTTTCTCAGAAGCCAGATGGCTTATTCTGCTAAGTCACGGGGACACTGACTCCAGACCCAACGCCAGGAGCCGGAACACCCTGCATGGGAAGAACC... |
Task1_train_12225 | A change on Chromosome 7 affects gene TBXAS1 (thromboxane A synthase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Ghosal hematodiaphyseal dysplasia | CCCCCGACCTGGTGTTTCCCTCAGATTCACACGGGAGGCAGCTCAGGACTGCGAGGTGCTGGGGCAGCGCATCCCCGCAGGCGCTGTGCTAGAGATGGCCGTGGGTGCCCTGCACCATGACCCTGAGCACTGGCCAAGCCCGGAGACCTTCAACCCTGAAAGGTGAGTACTGCCCCTTTTAAAAAGCTCTGAAGGGATGTGAGTGTGTGGGATAGAAATTTACCAGTGGAGGCAGCAGCCGGGAGGCACAGACTTAGCAAAATTGTCCCCAAATAGTCAAAAGTTATGGCAATTCAGATAGATGTTTGCAAGACATAATT... | CCCCCGACCTGGTGTTTCCCTCAGATTCACACGGGAGGCAGCTCAGGACTGCGAGGTGCTGGGGCAGCGCATCCCCGCAGGCGCTGTGCTAGAGATGGCCGTGGGTGCCCTGCACCATGACCCTGAGCACTGGCCAAGCCCGGAGACCTTCAACCCTGAAAGGTGAGTACTGCCCCTTTTAAAAAGCTCTGAAGGGATGTGAGTGTGTGGGATAGAAATTTACCAGTGGAGGCAGCAGCCGGGAGGCACAGACTTAGCAAAATTGTCCCCAAATAGTCAAAAGTTATGGCAATTCAGATAGATGTTTGCAAGACATAATT... |
Task1_train_12226 | A variant on Chromosome 7 in gene TBXAS1 (thromboxane A synthase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Ghosal hematodiaphyseal dysplasia | CTCAGATTCACACGGGAGGCAGCTCAGGACTGCGAGGTGCTGGGGCAGCGCATCCCCGCAGGCGCTGTGCTAGAGATGGCCGTGGGTGCCCTGCACCATGACCCTGAGCACTGGCCAAGCCCGGAGACCTTCAACCCTGAAAGGTGAGTACTGCCCCTTTTAAAAAGCTCTGAAGGGATGTGAGTGTGTGGGATAGAAATTTACCAGTGGAGGCAGCAGCCGGGAGGCACAGACTTAGCAAAATTGTCCCCAAATAGTCAAAAGTTATGGCAATTCAGATAGATGTTTGCAAGACATAATTTCCAAAGGAAATAATTATA... | CTCAGATTCACACGGGAGGCAGCTCAGGACTGCGAGGTGCTGGGGCAGCGCATCCCCGCAGGCGCTGTGCTAGAGATGGCCGTGGGTGCCCTGCACCATGACCCTGAGCACTGGCCAAGCCCGGAGACCTTCAACCCTGAAAGGTGAGTACTGCCCCTTTTAAAAAGCTCTGAAGGGATGTGAGTGTGTGGGATAGAAATTTACCAGTGGAGGCAGCAGCCGGGAGGCACAGACTTAGCAAAATTGTCCCCAAATAGTCAAAAGTTATGGCAATTCAGATAGATGTTTGCAAGACATAATTTCCAAAGGAAATAATTATA... |
Task1_train_12227 | This variant impacts the gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cardiofaciocutaneous syndrome 1 | GAAAGAAAGGAAAGGTGTCAGATGCAGATGATGGGAGCCTAGGCAGGATGGCATTGAGAAGAAAAAGAGAGTGAACAATGAAAGGAAGATAACTGTGAGGCAGGTATGCTGGGAAATTATAGAAGGAGCTCTATCAATAAAGAGACCCCTGACCTTGTGCCTCAAAATGGCCAAACATTTGGAGCATTCCACAAAGTCAATTTTGTAAAAACTTTGTTAGTTACATGCTTGCTAGTCTTCTATTTGTGAATGAATAAAACCCTATCTAACAATTACTAATAATCATATATTTAATGCCACTGGAGGATTTAAAAATCATA... | GAAAGAAAGGAAAGGTGTCAGATGCAGATGATGGGAGCCTAGGCAGGATGGCATTGAGAAGAAAAAGAGAGTGAACAATGAAAGGAAGATAACTGTGAGGCAGGTATGCTGGGAAATTATAGAAGGAGCTCTATCAATAAAGAGACCCCTGACCTTGTGCCTCAAAATGGCCAAACATTTGGAGCATTCCACAAAGTCAATTTTGTAAAAACTTTGTTAGTTACATGCTTGCTAGTCTTCTATTTGTGAATGAATAAAACCCTATCTAACAATTACTAATAATCATATATTTAATGCCACTGGAGGATTTAAAAATCATA... |
Task1_train_12228 | This variant affects the gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | TGGCATATAACAGTATGGTGTGAAAAGATATCCTGTAACAAAAATTTCAAAATAACACTTTAAAGGGATAGCCTCCAATAATCTGGAAAGTTCACATATGCACTTCAGTTTTTGAAACCATGTAATTAATGAAATGTTATATTTAGAAGTATGGAGCTAAGCATTTTGCCCCTTTTAATATCATTTAAAAAGTGGGCCTAAGGATGTACTTTGCATTATTAATGTCAATAAACATTCTAAGTAAGAACCCGAGCACCATGACGTGAAAAGAGAACATGGGACAGGGTCATGCTGAAGCTGCTCAGCAGCACTTGTCTCTC... | TGGCATATAACAGTATGGTGTGAAAAGATATCCTGTAACAAAAATTTCAAAATAACACTTTAAAGGGATAGCCTCCAATAATCTGGAAAGTTCACATATGCACTTCAGTTTTTGAAACCATGTAATTAATGAAATGTTATATTTAGAAGTATGGAGCTAAGCATTTTGCCCCTTTTAATATCATTTAAAAAGTGGGCCTAAGGATGTACTTTGCATTATTAATGTCAATAAACATTCTAAGTAAGAACCCGAGCACCATGACGTGAAAAGAGAACATGGGACAGGGTCATGCTGAAGCTGCTCAGCAGCACTTGTCTCTC... |
Task1_train_12229 | This variant affects the gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Cardio-facio-cutaneous syndrome | GAAGGTTCTAACTATACTATTAGAAAGAATTAACTAGTAAAGGCCTTACCCTTCTGTTGGTCACACATTCCTCTCATGGAGAGTAAGCCCTTGCCACATCATTTATTATACTCCCATGGAGGACAAAGCACCTAAAATGCCAAGAAGTGGATGAGAGAAGAACTCTGGGATGCTTTTATCTGTATTTTGGAGATAATACTTGTTTCTATATTATAATTTTATTATTGTACTAAGATAAACGTATTCACTGACAAATGAATTTCATCCAGATCTTAGGTTCATAAATTTTTATTAATTTGTAGTCTATATGATAAATCAAC... | GAAGGTTCTAACTATACTATTAGAAAGAATTAACTAGTAAAGGCCTTACCCTTCTGTTGGTCACACATTCCTCTCATGGAGAGTAAGCCCTTGCCACATCATTTATTATACTCCCATGGAGGACAAAGCACCTAAAATGCCAAGAAGTGGATGAGAGAAGAACTCTGGGATGCTTTTATCTGTATTTTGGAGATAATACTTGTTTCTATATTATAATTTTATTATTGTACTAAGATAAACGTATTCACTGACAAATGAATTTCATCCAGATCTTAGGTTCATAAATTTTTATTAATTTGTAGTCTATATGATAAATCAAC... |
Task1_train_12230 | This sequence change occurs on Chromosome 7, altering BRAF (B-Raf proto-oncogene, serine/threonine kinase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Melanoma | GAAGGTTCTAACTATACTATTAGAAAGAATTAACTAGTAAAGGCCTTACCCTTCTGTTGGTCACACATTCCTCTCATGGAGAGTAAGCCCTTGCCACATCATTTATTATACTCCCATGGAGGACAAAGCACCTAAAATGCCAAGAAGTGGATGAGAGAAGAACTCTGGGATGCTTTTATCTGTATTTTGGAGATAATACTTGTTTCTATATTATAATTTTATTATTGTACTAAGATAAACGTATTCACTGACAAATGAATTTCATCCAGATCTTAGGTTCATAAATTTTTATTAATTTGTAGTCTATATGATAAATCAAC... | GAAGGTTCTAACTATACTATTAGAAAGAATTAACTAGTAAAGGCCTTACCCTTCTGTTGGTCACACATTCCTCTCATGGAGAGTAAGCCCTTGCCACATCATTTATTATACTCCCATGGAGGACAAAGCACCTAAAATGCCAAGAAGTGGATGAGAGAAGAACTCTGGGATGCTTTTATCTGTATTTTGGAGATAATACTTGTTTCTATATTATAATTTTATTATTGTACTAAGATAAACGTATTCACTGACAAATGAATTTCATCCAGATCTTAGGTTCATAAATTTTTATTAATTTGTAGTCTATATGATAAATCAAC... |
Task1_train_12231 | This variant lies on Chromosome 7 and affects the gene BRAF (B-Raf proto-oncogene, serine/threonine kinase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; RASopathy | GAAGGTTCTAACTATACTATTAGAAAGAATTAACTAGTAAAGGCCTTACCCTTCTGTTGGTCACACATTCCTCTCATGGAGAGTAAGCCCTTGCCACATCATTTATTATACTCCCATGGAGGACAAAGCACCTAAAATGCCAAGAAGTGGATGAGAGAAGAACTCTGGGATGCTTTTATCTGTATTTTGGAGATAATACTTGTTTCTATATTATAATTTTATTATTGTACTAAGATAAACGTATTCACTGACAAATGAATTTCATCCAGATCTTAGGTTCATAAATTTTTATTAATTTGTAGTCTATATGATAAATCAAC... | GAAGGTTCTAACTATACTATTAGAAAGAATTAACTAGTAAAGGCCTTACCCTTCTGTTGGTCACACATTCCTCTCATGGAGAGTAAGCCCTTGCCACATCATTTATTATACTCCCATGGAGGACAAAGCACCTAAAATGCCAAGAAGTGGATGAGAGAAGAACTCTGGGATGCTTTTATCTGTATTTTGGAGATAATACTTGTTTCTATATTATAATTTTATTATTGTACTAAGATAAACGTATTCACTGACAAATGAATTTCATCCAGATCTTAGGTTCATAAATTTTTATTAATTTGTAGTCTATATGATAAATCAAC... |
Task1_train_12232 | This mutation occurs in BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Inborn genetic diseases | GAAGGTTCTAACTATACTATTAGAAAGAATTAACTAGTAAAGGCCTTACCCTTCTGTTGGTCACACATTCCTCTCATGGAGAGTAAGCCCTTGCCACATCATTTATTATACTCCCATGGAGGACAAAGCACCTAAAATGCCAAGAAGTGGATGAGAGAAGAACTCTGGGATGCTTTTATCTGTATTTTGGAGATAATACTTGTTTCTATATTATAATTTTATTATTGTACTAAGATAAACGTATTCACTGACAAATGAATTTCATCCAGATCTTAGGTTCATAAATTTTTATTAATTTGTAGTCTATATGATAAATCAAC... | GAAGGTTCTAACTATACTATTAGAAAGAATTAACTAGTAAAGGCCTTACCCTTCTGTTGGTCACACATTCCTCTCATGGAGAGTAAGCCCTTGCCACATCATTTATTATACTCCCATGGAGGACAAAGCACCTAAAATGCCAAGAAGTGGATGAGAGAAGAACTCTGGGATGCTTTTATCTGTATTTTGGAGATAATACTTGTTTCTATATTATAATTTTATTATTGTACTAAGATAAACGTATTCACTGACAAATGAATTTCATCCAGATCTTAGGTTCATAAATTTTTATTAATTTGTAGTCTATATGATAAATCAAC... |
Task1_train_12233 | The gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Noonan syndrome 7 | GAAGGTTCTAACTATACTATTAGAAAGAATTAACTAGTAAAGGCCTTACCCTTCTGTTGGTCACACATTCCTCTCATGGAGAGTAAGCCCTTGCCACATCATTTATTATACTCCCATGGAGGACAAAGCACCTAAAATGCCAAGAAGTGGATGAGAGAAGAACTCTGGGATGCTTTTATCTGTATTTTGGAGATAATACTTGTTTCTATATTATAATTTTATTATTGTACTAAGATAAACGTATTCACTGACAAATGAATTTCATCCAGATCTTAGGTTCATAAATTTTTATTAATTTGTAGTCTATATGATAAATCAAC... | GAAGGTTCTAACTATACTATTAGAAAGAATTAACTAGTAAAGGCCTTACCCTTCTGTTGGTCACACATTCCTCTCATGGAGAGTAAGCCCTTGCCACATCATTTATTATACTCCCATGGAGGACAAAGCACCTAAAATGCCAAGAAGTGGATGAGAGAAGAACTCTGGGATGCTTTTATCTGTATTTTGGAGATAATACTTGTTTCTATATTATAATTTTATTATTGTACTAAGATAAACGTATTCACTGACAAATGAATTTCATCCAGATCTTAGGTTCATAAATTTTTATTAATTTGTAGTCTATATGATAAATCAAC... |
Task1_train_12234 | This sequence variant lies in BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cardiofaciocutaneous syndrome 1 | GAAGGTTCTAACTATACTATTAGAAAGAATTAACTAGTAAAGGCCTTACCCTTCTGTTGGTCACACATTCCTCTCATGGAGAGTAAGCCCTTGCCACATCATTTATTATACTCCCATGGAGGACAAAGCACCTAAAATGCCAAGAAGTGGATGAGAGAAGAACTCTGGGATGCTTTTATCTGTATTTTGGAGATAATACTTGTTTCTATATTATAATTTTATTATTGTACTAAGATAAACGTATTCACTGACAAATGAATTTCATCCAGATCTTAGGTTCATAAATTTTTATTAATTTGTAGTCTATATGATAAATCAAC... | GAAGGTTCTAACTATACTATTAGAAAGAATTAACTAGTAAAGGCCTTACCCTTCTGTTGGTCACACATTCCTCTCATGGAGAGTAAGCCCTTGCCACATCATTTATTATACTCCCATGGAGGACAAAGCACCTAAAATGCCAAGAAGTGGATGAGAGAAGAACTCTGGGATGCTTTTATCTGTATTTTGGAGATAATACTTGTTTCTATATTATAATTTTATTATTGTACTAAGATAAACGTATTCACTGACAAATGAATTTCATCCAGATCTTAGGTTCATAAATTTTTATTAATTTGTAGTCTATATGATAAATCAAC... |
Task1_train_12235 | With a mutation on Chromosome 7 in gene BRAF (B-Raf proto-oncogene, serine/threonine kinase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Non-small cell lung carcinoma | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... |
Task1_train_12236 | A mutation in BRAF (B-Raf proto-oncogene, serine/threonine kinase), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neoplasm | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... |
Task1_train_12237 | Assess the clinical impact of this variant on gene BRAF (B-Raf proto-oncogene, serine/threonine kinase), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Lung cancer | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... |
Task1_train_12238 | This variant affects gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Cardiofaciocutaneous syndrome 1 | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... |
Task1_train_12239 | Consider this mutation in BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; LEOPARD syndrome 3 | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... |
Task1_train_12240 | This is a variant in BRAF (B-Raf proto-oncogene, serine/threonine kinase), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Noonan syndrome 7 | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... |
Task1_train_12241 | Here’s a variant in BRAF (B-Raf proto-oncogene, serine/threonine kinase) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Colorectal cancer | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... |
Task1_train_12242 | A variant affecting Chromosome 7, within the gene BRAF (B-Raf proto-oncogene, serine/threonine kinase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Melanoma, cutaneous malignant, susceptibility to, 1 | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... |
Task1_train_12243 | Located on Chromosome 7, this mutation impacts BRAF (B-Raf proto-oncogene, serine/threonine kinase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Noonan syndrome | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... |
Task1_train_12244 | A variant found in Chromosome 7 affects BRAF (B-Raf proto-oncogene, serine/threonine kinase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Cardio-facio-cutaneous syndrome | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... |
Task1_train_12245 | This variant impacts the gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; RASopathy | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... | CTCCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTA... |
Task1_train_12246 | The following genetic variant occurs in BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; RASopathy | CCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGA... | CCCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGA... |
Task1_train_12247 | This mutation is located in gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cardiofaciocutaneous syndrome 1 | CCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGAC... | CCACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGAC... |
Task1_train_12248 | A variant has been detected on Chromosome 7 in BRAF (B-Raf proto-oncogene, serine/threonine kinase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; RASopathy | ACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTT... | ACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTT... |
Task1_train_12249 | This variant lies on Chromosome 7 and affects the gene BRAF (B-Raf proto-oncogene, serine/threonine kinase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; RASopathy | ACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTT... | ACATAGTCAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTT... |
Task1_train_12250 | Here is a genetic alteration in BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cardio-facio-cutaneous syndrome | CAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAG... | CAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAG... |
Task1_train_12251 | The gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; RASopathy | CAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAG... | CAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAG... |
Task1_train_12252 | Gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Noonan syndrome | CAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAG... | CAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAG... |
Task1_train_12253 | This is a variant in BRAF (B-Raf proto-oncogene, serine/threonine kinase), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Cardio-facio-cutaneous syndrome | CAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAG... | CAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAG... |
Task1_train_12254 | A mutation in BRAF (B-Raf proto-oncogene, serine/threonine kinase), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Noonan syndrome 7 | CAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAG... | CAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAG... |
Task1_train_12255 | A change on Chromosome 7 affects gene BRAF (B-Raf proto-oncogene, serine/threonine kinase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Noonan syndrome and Noonan-related syndrome | CAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAG... | CAAAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAG... |
Task1_train_12256 | This alteration in BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; RASopathy | AAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAGGT... | AAAATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAGGT... |
Task1_train_12257 | Here is a genetic alteration in BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; RASopathy | AATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAGGTTA... | AATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAGGTTA... |
Task1_train_12258 | The gene BRAF (B-Raf proto-oncogene, serine/threonine kinase), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; RASopathy | AATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAGGTTA... | AATTAACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAGGTTA... |
Task1_train_12259 | A genetic alteration is present in BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; RASopathy | AACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAGGTTAAGAA... | AACATACTTTAAAAGCACGTGACAATTGTTTATAATTTTAGGTTTTGCAATTTCAGCACTTAAAATCTGTTTTCCCTCATCTTTTTAGGATACACTGCCATCTTTTTCACAAGGTGTGTATGCCTTAATAAAGGTGCCTGACATCAGATTATAGTTATTAATTTTTCTATCACTTATAATTATTAATTAAAAGTTAAACATATGTTAAATAATGGAAAAAATCTAGCTAACTCCAGTCACCGAATCTTAGAAAAAAGGGGCATTGGAAATCTACTAGTCCAACTCAACATTTCAGATGTAGACTTAGAGGAGGTTAAGAA... |
Task1_train_12260 | A mutation in BRAF (B-Raf proto-oncogene, serine/threonine kinase), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cardio-facio-cutaneous syndrome | TTTTTAATGAAAAATAACTATTATCAAAAAAAAGTTTAGTAAGAAGAATAGTACTACAATTATCCTCCTTTTATGGTTTAGAGATGGGGTCTCACTATGTTGAGCAGGCCAGTCAACTCCTGGGATCAAGTGATCCTCCTGCCCTAGCCTCCCAGGTAGCTGGAACTATGGACTCCAGCCACCATGAGTGGCCTGTGATTCTCCTCAATGTCTGGCTTAACAGCAGCCAGCTGGATTCTCATATTTGCTTTTGCACTCAGTCTGTTGCAATGTGTTGTTTTGGTTGAAGGATATAAAGAAAATCTTGTCTCACAAAGGGA... | TTTTTAATGAAAAATAACTATTATCAAAAAAAAGTTTAGTAAGAAGAATAGTACTACAATTATCCTCCTTTTATGGTTTAGAGATGGGGTCTCACTATGTTGAGCAGGCCAGTCAACTCCTGGGATCAAGTGATCCTCCTGCCCTAGCCTCCCAGGTAGCTGGAACTATGGACTCCAGCCACCATGAGTGGCCTGTGATTCTCCTCAATGTCTGGCTTAACAGCAGCCAGCTGGATTCTCATATTTGCTTTTGCACTCAGTCTGTTGCAATGTGTTGTTTTGGTTGAAGGATATAAAGAAAATCTTGTCTCACAAAGGGA... |
Task1_train_12261 | Gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TTAATGAAAAATAACTATTATCAAAAAAAAGTTTAGTAAGAAGAATAGTACTACAATTATCCTCCTTTTATGGTTTAGAGATGGGGTCTCACTATGTTGAGCAGGCCAGTCAACTCCTGGGATCAAGTGATCCTCCTGCCCTAGCCTCCCAGGTAGCTGGAACTATGGACTCCAGCCACCATGAGTGGCCTGTGATTCTCCTCAATGTCTGGCTTAACAGCAGCCAGCTGGATTCTCATATTTGCTTTTGCACTCAGTCTGTTGCAATGTGTTGTTTTGGTTGAAGGATATAAAGAAAATCTTGTCTCACAAAGGGAAGA... | TTAATGAAAAATAACTATTATCAAAAAAAAGTTTAGTAAGAAGAATAGTACTACAATTATCCTCCTTTTATGGTTTAGAGATGGGGTCTCACTATGTTGAGCAGGCCAGTCAACTCCTGGGATCAAGTGATCCTCCTGCCCTAGCCTCCCAGGTAGCTGGAACTATGGACTCCAGCCACCATGAGTGGCCTGTGATTCTCCTCAATGTCTGGCTTAACAGCAGCCAGCTGGATTCTCATATTTGCTTTTGCACTCAGTCTGTTGCAATGTGTTGTTTTGGTTGAAGGATATAAAGAAAATCTTGTCTCACAAAGGGAAGA... |
Task1_train_12262 | With a mutation on Chromosome 7 in gene BRAF (B-Raf proto-oncogene, serine/threonine kinase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | ATTATCAAAAAAAAGTTTAGTAAGAAGAATAGTACTACAATTATCCTCCTTTTATGGTTTAGAGATGGGGTCTCACTATGTTGAGCAGGCCAGTCAACTCCTGGGATCAAGTGATCCTCCTGCCCTAGCCTCCCAGGTAGCTGGAACTATGGACTCCAGCCACCATGAGTGGCCTGTGATTCTCCTCAATGTCTGGCTTAACAGCAGCCAGCTGGATTCTCATATTTGCTTTTGCACTCAGTCTGTTGCAATGTGTTGTTTTGGTTGAAGGATATAAAGAAAATCTTGTCTCACAAAGGGAAGATCTTGTGGACCCTCTA... | ATTATCAAAAAAAAGTTTAGTAAGAAGAATAGTACTACAATTATCCTCCTTTTATGGTTTAGAGATGGGGTCTCACTATGTTGAGCAGGCCAGTCAACTCCTGGGATCAAGTGATCCTCCTGCCCTAGCCTCCCAGGTAGCTGGAACTATGGACTCCAGCCACCATGAGTGGCCTGTGATTCTCCTCAATGTCTGGCTTAACAGCAGCCAGCTGGATTCTCATATTTGCTTTTGCACTCAGTCTGTTGCAATGTGTTGTTTTGGTTGAAGGATATAAAGAAAATCTTGTCTCACAAAGGGAAGATCTTGTGGACCCTCTA... |
Task1_train_12263 | A variant was discovered on Chromosome 7, affecting BRAF (B-Raf proto-oncogene, serine/threonine kinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cardio-facio-cutaneous syndrome | TATCAAAAAAAAGTTTAGTAAGAAGAATAGTACTACAATTATCCTCCTTTTATGGTTTAGAGATGGGGTCTCACTATGTTGAGCAGGCCAGTCAACTCCTGGGATCAAGTGATCCTCCTGCCCTAGCCTCCCAGGTAGCTGGAACTATGGACTCCAGCCACCATGAGTGGCCTGTGATTCTCCTCAATGTCTGGCTTAACAGCAGCCAGCTGGATTCTCATATTTGCTTTTGCACTCAGTCTGTTGCAATGTGTTGTTTTGGTTGAAGGATATAAAGAAAATCTTGTCTCACAAAGGGAAGATCTTGTGGACCCTCTAAA... | TATCAAAAAAAAGTTTAGTAAGAAGAATAGTACTACAATTATCCTCCTTTTATGGTTTAGAGATGGGGTCTCACTATGTTGAGCAGGCCAGTCAACTCCTGGGATCAAGTGATCCTCCTGCCCTAGCCTCCCAGGTAGCTGGAACTATGGACTCCAGCCACCATGAGTGGCCTGTGATTCTCCTCAATGTCTGGCTTAACAGCAGCCAGCTGGATTCTCATATTTGCTTTTGCACTCAGTCTGTTGCAATGTGTTGTTTTGGTTGAAGGATATAAAGAAAATCTTGTCTCACAAAGGGAAGATCTTGTGGACCCTCTAAA... |
Task1_train_12264 | Mutation context: Chromosome 7, Gene BRAF (B-Raf proto-oncogene, serine/threonine kinase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | ATAATGAAAAAAAGCCCCTGCTCTCATACAGCCTGCATTCTAGTGGGGATAAAAGACAAGAAACAAGTCAGATGGAGCTATGCGTTATAAAGAAAATCAAGCCTATGGGTATAGAGAGTGACAGAGTGACGTGGGGACATGTTAGTTATATAAGGTGAGCAAGGATTTCTATTAAAAGGGGACATATGAACCGAGACACAAGGATATTTGTGGCATGTGTATCCTAAAGAGAATATAACAAACATAAAGGTCCTAAAGAAGGAACACGCTTGGCCTGCTGAAGAAATTGCAAAGAGACCAGTGGTGTGGGAAGAGAATAA... | ATAATGAAAAAAAGCCCCTGCTCTCATACAGCCTGCATTCTAGTGGGGATAAAAGACAAGAAACAAGTCAGATGGAGCTATGCGTTATAAAGAAAATCAAGCCTATGGGTATAGAGAGTGACAGAGTGACGTGGGGACATGTTAGTTATATAAGGTGAGCAAGGATTTCTATTAAAAGGGGACATATGAACCGAGACACAAGGATATTTGTGGCATGTGTATCCTAAAGAGAATATAACAAACATAAAGGTCCTAAAGAAGGAACACGCTTGGCCTGCTGAAGAAATTGCAAAGAGACCAGTGGTGTGGGAAGAGAATAA... |
Task1_train_12265 | Consider a variant on Chromosome 7 in gene BRAF (B-Raf proto-oncogene, serine/threonine kinase). Determine its clinical classification and disease relevance. | Pathogenic; RASopathy | ATAATGAAAAAAAGCCCCTGCTCTCATACAGCCTGCATTCTAGTGGGGATAAAAGACAAGAAACAAGTCAGATGGAGCTATGCGTTATAAAGAAAATCAAGCCTATGGGTATAGAGAGTGACAGAGTGACGTGGGGACATGTTAGTTATATAAGGTGAGCAAGGATTTCTATTAAAAGGGGACATATGAACCGAGACACAAGGATATTTGTGGCATGTGTATCCTAAAGAGAATATAACAAACATAAAGGTCCTAAAGAAGGAACACGCTTGGCCTGCTGAAGAAATTGCAAAGAGACCAGTGGTGTGGGAAGAGAATAA... | ATAATGAAAAAAAGCCCCTGCTCTCATACAGCCTGCATTCTAGTGGGGATAAAAGACAAGAAACAAGTCAGATGGAGCTATGCGTTATAAAGAAAATCAAGCCTATGGGTATAGAGAGTGACAGAGTGACGTGGGGACATGTTAGTTATATAAGGTGAGCAAGGATTTCTATTAAAAGGGGACATATGAACCGAGACACAAGGATATTTGTGGCATGTGTATCCTAAAGAGAATATAACAAACATAAAGGTCCTAAAGAAGGAACACGCTTGGCCTGCTGAAGAAATTGCAAAGAGACCAGTGGTGTGGGAAGAGAATAA... |
Task1_train_12266 | A mutation on Chromosome 7 affecting BRAF (B-Raf proto-oncogene, serine/threonine kinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Noonan syndrome 7 | TAATGAAAAAAAGCCCCTGCTCTCATACAGCCTGCATTCTAGTGGGGATAAAAGACAAGAAACAAGTCAGATGGAGCTATGCGTTATAAAGAAAATCAAGCCTATGGGTATAGAGAGTGACAGAGTGACGTGGGGACATGTTAGTTATATAAGGTGAGCAAGGATTTCTATTAAAAGGGGACATATGAACCGAGACACAAGGATATTTGTGGCATGTGTATCCTAAAGAGAATATAACAAACATAAAGGTCCTAAAGAAGGAACACGCTTGGCCTGCTGAAGAAATTGCAAAGAGACCAGTGGTGTGGGAAGAGAATAAG... | TAATGAAAAAAAGCCCCTGCTCTCATACAGCCTGCATTCTAGTGGGGATAAAAGACAAGAAACAAGTCAGATGGAGCTATGCGTTATAAAGAAAATCAAGCCTATGGGTATAGAGAGTGACAGAGTGACGTGGGGACATGTTAGTTATATAAGGTGAGCAAGGATTTCTATTAAAAGGGGACATATGAACCGAGACACAAGGATATTTGTGGCATGTGTATCCTAAAGAGAATATAACAAACATAAAGGTCCTAAAGAAGGAACACGCTTGGCCTGCTGAAGAAATTGCAAAGAGACCAGTGGTGTGGGAAGAGAATAAG... |
Task1_train_12267 | Consider a variant on Chromosome 7 in gene BRAF (B-Raf proto-oncogene, serine/threonine kinase). Determine its clinical classification and disease relevance. | Pathogenic; Colorectal cancer | AATGAAAAAAAGCCCCTGCTCTCATACAGCCTGCATTCTAGTGGGGATAAAAGACAAGAAACAAGTCAGATGGAGCTATGCGTTATAAAGAAAATCAAGCCTATGGGTATAGAGAGTGACAGAGTGACGTGGGGACATGTTAGTTATATAAGGTGAGCAAGGATTTCTATTAAAAGGGGACATATGAACCGAGACACAAGGATATTTGTGGCATGTGTATCCTAAAGAGAATATAACAAACATAAAGGTCCTAAAGAAGGAACACGCTTGGCCTGCTGAAGAAATTGCAAAGAGACCAGTGGTGTGGGAAGAGAATAAGC... | AATGAAAAAAAGCCCCTGCTCTCATACAGCCTGCATTCTAGTGGGGATAAAAGACAAGAAACAAGTCAGATGGAGCTATGCGTTATAAAGAAAATCAAGCCTATGGGTATAGAGAGTGACAGAGTGACGTGGGGACATGTTAGTTATATAAGGTGAGCAAGGATTTCTATTAAAAGGGGACATATGAACCGAGACACAAGGATATTTGTGGCATGTGTATCCTAAAGAGAATATAACAAACATAAAGGTCCTAAAGAAGGAACACGCTTGGCCTGCTGAAGAAATTGCAAAGAGACCAGTGGTGTGGGAAGAGAATAAGC... |
Task1_train_12268 | The gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; RASopathy | AATGAAAAAAAGCCCCTGCTCTCATACAGCCTGCATTCTAGTGGGGATAAAAGACAAGAAACAAGTCAGATGGAGCTATGCGTTATAAAGAAAATCAAGCCTATGGGTATAGAGAGTGACAGAGTGACGTGGGGACATGTTAGTTATATAAGGTGAGCAAGGATTTCTATTAAAAGGGGACATATGAACCGAGACACAAGGATATTTGTGGCATGTGTATCCTAAAGAGAATATAACAAACATAAAGGTCCTAAAGAAGGAACACGCTTGGCCTGCTGAAGAAATTGCAAAGAGACCAGTGGTGTGGGAAGAGAATAAGC... | AATGAAAAAAAGCCCCTGCTCTCATACAGCCTGCATTCTAGTGGGGATAAAAGACAAGAAACAAGTCAGATGGAGCTATGCGTTATAAAGAAAATCAAGCCTATGGGTATAGAGAGTGACAGAGTGACGTGGGGACATGTTAGTTATATAAGGTGAGCAAGGATTTCTATTAAAAGGGGACATATGAACCGAGACACAAGGATATTTGTGGCATGTGTATCCTAAAGAGAATATAACAAACATAAAGGTCCTAAAGAAGGAACACGCTTGGCCTGCTGAAGAAATTGCAAAGAGACCAGTGGTGTGGGAAGAGAATAAGC... |
Task1_train_12269 | A sequence alteration has been identified in BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; not provided | AATGAAAAAAAGCCCCTGCTCTCATACAGCCTGCATTCTAGTGGGGATAAAAGACAAGAAACAAGTCAGATGGAGCTATGCGTTATAAAGAAAATCAAGCCTATGGGTATAGAGAGTGACAGAGTGACGTGGGGACATGTTAGTTATATAAGGTGAGCAAGGATTTCTATTAAAAGGGGACATATGAACCGAGACACAAGGATATTTGTGGCATGTGTATCCTAAAGAGAATATAACAAACATAAAGGTCCTAAAGAAGGAACACGCTTGGCCTGCTGAAGAAATTGCAAAGAGACCAGTGGTGTGGGAAGAGAATAAGC... | AATGAAAAAAAGCCCCTGCTCTCATACAGCCTGCATTCTAGTGGGGATAAAAGACAAGAAACAAGTCAGATGGAGCTATGCGTTATAAAGAAAATCAAGCCTATGGGTATAGAGAGTGACAGAGTGACGTGGGGACATGTTAGTTATATAAGGTGAGCAAGGATTTCTATTAAAAGGGGACATATGAACCGAGACACAAGGATATTTGTGGCATGTGTATCCTAAAGAGAATATAACAAACATAAAGGTCCTAAAGAAGGAACACGCTTGGCCTGCTGAAGAAATTGCAAAGAGACCAGTGGTGTGGGAAGAGAATAAGC... |
Task1_train_12270 | The gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; RASopathy | TTTACTCTTTTATTCTAATTTTGTAATGTAAAAGTAGCATAGTGGTTATGGGGAAAGAATACTGGATTGGGAGTCAGAAATCCTGAGTTAAACACCTTTGGTGCCACTTATTAAATGTGTGCCCTTAGACAAGGAACTTAAAAGCCTCAATTTCCTTATCTGTAAAAAGAAAAAAGATCTCCTTCATAACATTATAAAGATTAAATGACATAATAATCTATGTAAGTGAAAGCAATTTGTAAAAAACAAAATTCAGATCATATCTATTTTTAAACTTCTCACAGAGCTTTCAAATTCATATTTTACTGAGTTTATAATTT... | TTTACTCTTTTATTCTAATTTTGTAATGTAAAAGTAGCATAGTGGTTATGGGGAAAGAATACTGGATTGGGAGTCAGAAATCCTGAGTTAAACACCTTTGGTGCCACTTATTAAATGTGTGCCCTTAGACAAGGAACTTAAAAGCCTCAATTTCCTTATCTGTAAAAAGAAAAAAGATCTCCTTCATAACATTATAAAGATTAAATGACATAATAATCTATGTAAGTGAAAGCAATTTGTAAAAAACAAAATTCAGATCATATCTATTTTTAAACTTCTCACAGAGCTTTCAAATTCATATTTTACTGAGTTTATAATTT... |
Task1_train_12271 | The gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cardiofaciocutaneous syndrome 1 | TCTTTTATTCTAATTTTGTAATGTAAAAGTAGCATAGTGGTTATGGGGAAAGAATACTGGATTGGGAGTCAGAAATCCTGAGTTAAACACCTTTGGTGCCACTTATTAAATGTGTGCCCTTAGACAAGGAACTTAAAAGCCTCAATTTCCTTATCTGTAAAAAGAAAAAAGATCTCCTTCATAACATTATAAAGATTAAATGACATAATAATCTATGTAAGTGAAAGCAATTTGTAAAAAACAAAATTCAGATCATATCTATTTTTAAACTTCTCACAGAGCTTTCAAATTCATATTTTACTGAGTTTATAATTTTCACC... | TCTTTTATTCTAATTTTGTAATGTAAAAGTAGCATAGTGGTTATGGGGAAAGAATACTGGATTGGGAGTCAGAAATCCTGAGTTAAACACCTTTGGTGCCACTTATTAAATGTGTGCCCTTAGACAAGGAACTTAAAAGCCTCAATTTCCTTATCTGTAAAAAGAAAAAAGATCTCCTTCATAACATTATAAAGATTAAATGACATAATAATCTATGTAAGTGAAAGCAATTTGTAAAAAACAAAATTCAGATCATATCTATTTTTAAACTTCTCACAGAGCTTTCAAATTCATATTTTACTGAGTTTATAATTTTCACC... |
Task1_train_12272 | A genetic alteration is present in BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; RASopathy | ATGGGGAAAGAATACTGGATTGGGAGTCAGAAATCCTGAGTTAAACACCTTTGGTGCCACTTATTAAATGTGTGCCCTTAGACAAGGAACTTAAAAGCCTCAATTTCCTTATCTGTAAAAAGAAAAAAGATCTCCTTCATAACATTATAAAGATTAAATGACATAATAATCTATGTAAGTGAAAGCAATTTGTAAAAAACAAAATTCAGATCATATCTATTTTTAAACTTCTCACAGAGCTTTCAAATTCATATTTTACTGAGTTTATAATTTTCACCTAAGTGCTTTCAAAATTTGTTTAATTTTACCTTTTAATTTAC... | ATGGGGAAAGAATACTGGATTGGGAGTCAGAAATCCTGAGTTAAACACCTTTGGTGCCACTTATTAAATGTGTGCCCTTAGACAAGGAACTTAAAAGCCTCAATTTCCTTATCTGTAAAAAGAAAAAAGATCTCCTTCATAACATTATAAAGATTAAATGACATAATAATCTATGTAAGTGAAAGCAATTTGTAAAAAACAAAATTCAGATCATATCTATTTTTAAACTTCTCACAGAGCTTTCAAATTCATATTTTACTGAGTTTATAATTTTCACCTAAGTGCTTTCAAAATTTGTTTAATTTTACCTTTTAATTTAC... |
Task1_train_12273 | This is a variant in BRAF (B-Raf proto-oncogene, serine/threonine kinase), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; RASopathy | ATGGGGAAAGAATACTGGATTGGGAGTCAGAAATCCTGAGTTAAACACCTTTGGTGCCACTTATTAAATGTGTGCCCTTAGACAAGGAACTTAAAAGCCTCAATTTCCTTATCTGTAAAAAGAAAAAAGATCTCCTTCATAACATTATAAAGATTAAATGACATAATAATCTATGTAAGTGAAAGCAATTTGTAAAAAACAAAATTCAGATCATATCTATTTTTAAACTTCTCACAGAGCTTTCAAATTCATATTTTACTGAGTTTATAATTTTCACCTAAGTGCTTTCAAAATTTGTTTAATTTTACCTTTTAATTTAC... | ATGGGGAAAGAATACTGGATTGGGAGTCAGAAATCCTGAGTTAAACACCTTTGGTGCCACTTATTAAATGTGTGCCCTTAGACAAGGAACTTAAAAGCCTCAATTTCCTTATCTGTAAAAAGAAAAAAGATCTCCTTCATAACATTATAAAGATTAAATGACATAATAATCTATGTAAGTGAAAGCAATTTGTAAAAAACAAAATTCAGATCATATCTATTTTTAAACTTCTCACAGAGCTTTCAAATTCATATTTTACTGAGTTTATAATTTTCACCTAAGTGCTTTCAAAATTTGTTTAATTTTACCTTTTAATTTAC... |
Task1_train_12274 | A variant was discovered in gene BRAF (B-Raf proto-oncogene, serine/threonine kinase), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cardiofaciocutaneous syndrome 1 | TGGGGAAAGAATACTGGATTGGGAGTCAGAAATCCTGAGTTAAACACCTTTGGTGCCACTTATTAAATGTGTGCCCTTAGACAAGGAACTTAAAAGCCTCAATTTCCTTATCTGTAAAAAGAAAAAAGATCTCCTTCATAACATTATAAAGATTAAATGACATAATAATCTATGTAAGTGAAAGCAATTTGTAAAAAACAAAATTCAGATCATATCTATTTTTAAACTTCTCACAGAGCTTTCAAATTCATATTTTACTGAGTTTATAATTTTCACCTAAGTGCTTTCAAAATTTGTTTAATTTTACCTTTTAATTTACC... | TGGGGAAAGAATACTGGATTGGGAGTCAGAAATCCTGAGTTAAACACCTTTGGTGCCACTTATTAAATGTGTGCCCTTAGACAAGGAACTTAAAAGCCTCAATTTCCTTATCTGTAAAAAGAAAAAAGATCTCCTTCATAACATTATAAAGATTAAATGACATAATAATCTATGTAAGTGAAAGCAATTTGTAAAAAACAAAATTCAGATCATATCTATTTTTAAACTTCTCACAGAGCTTTCAAATTCATATTTTACTGAGTTTATAATTTTCACCTAAGTGCTTTCAAAATTTGTTTAATTTTACCTTTTAATTTACC... |
Task1_train_12275 | With a mutation on Chromosome 7 in gene BRAF (B-Raf proto-oncogene, serine/threonine kinase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Non-small cell lung carcinoma | CAATAAGCATTTCCTTTGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTA... | CAATAAGCATTTCCTTTGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTA... |
Task1_train_12276 | This sequence change occurs on Chromosome 7, altering BRAF (B-Raf proto-oncogene, serine/threonine kinase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Non-small cell lung carcinoma | CAATAAGCATTTCCTTTGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTA... | CAATAAGCATTTCCTTTGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTA... |
Task1_train_12277 | The gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; RASopathy | CAATAAGCATTTCCTTTGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTA... | CAATAAGCATTTCCTTTGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTA... |
Task1_train_12278 | This sequence variant lies in BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | CATTTCCTTTGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTAGTGAGTT... | CATTTCCTTTGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTAGTGAGTT... |
Task1_train_12279 | Gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TTCCTTTGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTAGTGAGTTGAG... | TTCCTTTGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTAGTGAGTTGAG... |
Task1_train_12280 | Here is a mutation in BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; RASopathy | TTGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTAGTGAGTTGAGATTGT... | TTGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTAGTGAGTTGAGATTGT... |
Task1_train_12281 | Mutation context: Chromosome 7, Gene BRAF (B-Raf proto-oncogene, serine/threonine kinase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | TGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTAGTGAGTTGAGATTGTG... | TGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTAGTGAGTTGAGATTGTG... |
Task1_train_12282 | A mutation on Chromosome 7 affecting BRAF (B-Raf proto-oncogene, serine/threonine kinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; RASopathy | TGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTAGTGAGTTGAGATTGTG... | TGAGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTAGTGAGTTGAGATTGTG... |
Task1_train_12283 | A mutation in BRAF (B-Raf proto-oncogene, serine/threonine kinase), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Carcinoma of colon | AGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTAGTGAGTTGAGATTGTGCC... | AGCATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTAGTGAGTTGAGATTGTGCC... |
Task1_train_12284 | A mutation found in BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Carcinoma of colon | ATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTAGTGAGTTGAGATTGTGCCACT... | ATCATGTCAGCACTCAGAAAGTTTTGGATTTTGGAGCATTTCGGGTTTGGGATTTTGGATTAAAGATACCCAACCTGGCCAGGTGTGCTGCCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGCAAAACTCGTCTCTACTCAAAATACAAAAATTAGCCAGGGGTGGTGGTACGCGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGGAGAACTGCTTGAATCTGGGAGGCAGAGGTTGTAGTGAGTTGAGATTGTGCCACT... |
Task1_train_12285 | Given a variant located on Chromosome 7 and affecting BRAF (B-Raf proto-oncogene, serine/threonine kinase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Lip and oral cavity carcinoma | GCAACCTCCGCCTCCTGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCTTCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGTATGGTCTTGATCTCCTGACCTCGTGATCAGCCAGCCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATAAGCCACTGCGCCCAGCCATTAAGTACATTTTTAATATGTTTACTTGTGACTTATAATACAAATAAAATTATCAGCTGAAAGACTCTAAAAGAAAATAAAATCCTTTTGAGGACTAG... | GCAACCTCCGCCTCCTGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCTTCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGTATGGTCTTGATCTCCTGACCTCGTGATCAGCCAGCCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATAAGCCACTGCGCCCAGCCATTAAGTACATTTTTAATATGTTTACTTGTGACTTATAATACAAATAAAATTATCAGCTGAAAGACTCTAAAAGAAAATAAAATCCTTTTGAGGACTAG... |
Task1_train_12286 | A mutation found in BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cardio-facio-cutaneous syndrome | CCAAGACTCTCCATAATCTGGTTTTACACATGGTAGTTCTTAAGTTAGATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAA... | CCAAGACTCTCCATAATCTGGTTTTACACATGGTAGTTCTTAAGTTAGATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAA... |
Task1_train_12287 | The gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Noonan syndrome and Noonan-related syndrome | ATGGTAGTTCTTAAGTTAGATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTA... | ATGGTAGTTCTTAAGTTAGATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTA... |
Task1_train_12288 | Consider this mutation in BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Noonan syndrome and Noonan-related syndrome | GGTAGTTCTTAAGTTAGATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTACA... | GGTAGTTCTTAAGTTAGATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTACA... |
Task1_train_12289 | Gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cardio-facio-cutaneous syndrome | AGTTCTTAAGTTAGATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTACATTG... | AGTTCTTAAGTTAGATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTACATTG... |
Task1_train_12290 | A change on Chromosome 7 affects gene BRAF (B-Raf proto-oncogene, serine/threonine kinase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Noonan syndrome and Noonan-related syndrome | GTTCTTAAGTTAGATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTACATTGT... | GTTCTTAAGTTAGATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTACATTGT... |
Task1_train_12291 | This variant impacts the gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Noonan syndrome and Noonan-related syndrome | GTTCTTAAGTTAGATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTACATTGT... | GTTCTTAAGTTAGATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTACATTGT... |
Task1_train_12292 | The gene BRAF (B-Raf proto-oncogene, serine/threonine kinase) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cardio-facio-cutaneous syndrome | TAAGTTAGATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTACATTGTTTGCC... | TAAGTTAGATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTACATTGTTTGCC... |
Task1_train_12293 | A variant was discovered in gene BRAF (B-Raf proto-oncogene, serine/threonine kinase), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Inborn genetic diseases | ATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTACATTGTTTGCCATTGTCTC... | ATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTACATTGTTTGCCATTGTCTC... |
Task1_train_12294 | The gene BRAF (B-Raf proto-oncogene, serine/threonine kinase), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; RASopathy | ATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTACATTGTTTGCCATTGTCTC... | ATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTACATTGTTTGCCATTGTCTC... |
Task1_train_12295 | This variant lies on Chromosome 7 and affects the gene BRAF (B-Raf proto-oncogene, serine/threonine kinase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; RASopathy | ATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTACATTGTTTGCCATTGTCTC... | ATAAACCTTTCTTCACTAGCTTCTAAACCTAACATCTTCATTCCCTTTATATCTGTTTATTCCCTTTATATCTGTTGTTTCTCCATTCCCCTTTCACCATGCTTCTATTCCCTAGGCCCGTTCAGATTGTAGTAATTCTTTAAAGTCTAGTTCAAATACCACCTTCTTCATTAAGTTTTCCTGAGCACTCTCTTTTTCCTCACTATTCTTCCTTCTGTAAACATGAATACATTTATGTCCTCATCACATACTTCAATATACTCCATCATAAATTGTAGATTATAATTATATACTATTTTTACATTGTTTGCCATTGTCTC... |
Task1_train_12296 | A sequence alteration has been identified in AGK (acylglycerol kinase) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; not provided | ACCACCCCCTCAGCCCTAGACCAGGTTAGGTTCATTCTTGCAGACTCTCACAAAGCCTTGTGCTGACTCCTCGACATTTATCCCACTGTACTGCAATCATAATTGTATAATTGTGTTAGCATTGTGGGTTTGACAGTTGTGAGCACTTGAGAGAACGCATGAGACCCATTCTTCTCTGCCCTCACCCCCAGCACAGAGCCTACCATATAGGTGTTTATTAAAGGGCTCTTGAATGAAGGAGTGATTTAGGGCCAGATGGAGAGGAGTTCAAGAATTAGTTGGGCCTTTGGAATCATGTGTCAGCCTGACGGTGTATGGGA... | ACCACCCCCTCAGCCCTAGACCAGGTTAGGTTCATTCTTGCAGACTCTCACAAAGCCTTGTGCTGACTCCTCGACATTTATCCCACTGTACTGCAATCATAATTGTATAATTGTGTTAGCATTGTGGGTTTGACAGTTGTGAGCACTTGAGAGAACGCATGAGACCCATTCTTCTCTGCCCTCACCCCCAGCACAGAGCCTACCATATAGGTGTTTATTAAAGGGCTCTTGAATGAAGGAGTGATTTAGGGCCAGATGGAGAGGAGTTCAAGAATTAGTTGGGCCTTTGGAATCATGTGTCAGCCTGACGGTGTATGGGA... |
Task1_train_12297 | A mutation in WEE2, WEE2-AS1 (WEE2 oocyte meiosis inhibiting kinase| WEE2 antisense RNA 1), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Oocyte maturation defect 5 | ACCATAACTATCTATTGCACATTAATCACAGGGAGAATGAAATGGAGCTATAACCACTGCTATTTCAACATTTTTGAATGGTGGAAACTTCATATTTGTTTTTCCTTTAAATTTTTAAAGTTTTCTGAAGCAAGTTTTATTTGCGTAAATAAATATGTTAATATGTTAAAATGTTAGCACTTGGCTATTGTAAACATCACAGAAAAGGCGGCCACTGGCACAGGTGTTCCTTCAAATGCAAATGTTTCTGACTTATGCCTCCATTATTTTACTGTTGGATTTTATTCCTCACTTATTTTATAATTTATCTCTTGATTTCA... | ACCATAACTATCTATTGCACATTAATCACAGGGAGAATGAAATGGAGCTATAACCACTGCTATTTCAACATTTTTGAATGGTGGAAACTTCATATTTGTTTTTCCTTTAAATTTTTAAAGTTTTCTGAAGCAAGTTTTATTTGCGTAAATAAATATGTTAATATGTTAAAATGTTAGCACTTGGCTATTGTAAACATCACAGAAAAGGCGGCCACTGGCACAGGTGTTCCTTCAAATGCAAATGTTTCTGACTTATGCCTCCATTATTTTACTGTTGGATTTTATTCCTCACTTATTTTATAATTTATCTCTTGATTTCA... |
Task1_train_12298 | Here’s a variant in WEE2, WEE2-AS1 (WEE2 oocyte meiosis inhibiting kinase| WEE2 antisense RNA 1) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Oocyte maturation defect 5 | TTTATACAAGGCTCTTGGGCATTTGGGGCTTTGATATCTGCAGGAGGTCCTGGAACTAATACCCTGAAGATATAGGAGGCCAATTGTATTTACTATGCTTTCATCTATAAGACTCATACTGTGGGGCTGTTCTCTGTTGTTCTTTCCCAGGTGGGAGTTTGCAAGCTGCTATATCTGAAAACACTAAGTCTGGCAATCATTTTGAAGAGCCAAAACTCAAGGACATCCTTCTACAGATTTCCCTTGGCCTTAATTACATCCACAACTCTAGCATGGTACACCTGGACATCAAACCTAGTCAGTGTGATTCCCTTCTGCCA... | TTTATACAAGGCTCTTGGGCATTTGGGGCTTTGATATCTGCAGGAGGTCCTGGAACTAATACCCTGAAGATATAGGAGGCCAATTGTATTTACTATGCTTTCATCTATAAGACTCATACTGTGGGGCTGTTCTCTGTTGTTCTTTCCCAGGTGGGAGTTTGCAAGCTGCTATATCTGAAAACACTAAGTCTGGCAATCATTTTGAAGAGCCAAAACTCAAGGACATCCTTCTACAGATTTCCCTTGGCCTTAATTACATCCACAACTCTAGCATGGTACACCTGGACATCAAACCTAGTCAGTGTGATTCCCTTCTGCCA... |
Task1_train_12299 | Assess the clinical impact of this variant on gene SSBP1 (single stranded DNA binding protein 1), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Cone-rod dystrophy | TATTAATTATAAAGCATCTCTTTTAACTCTCCTTTGGTCTAATGATGGATTAAATCAGTACCCATGTTGGATCTAAATTTCTTAATTTCTAAAGTCTACTGTAACCAAAATACAGTAGTAATATACCAGTTGTTTATACTAAAAAAAAAAATTAGAGGATGTATATATTGAATATATGTAGTACTTTTTGTCTCTTTTTGTCTTTCCAGCTAATGAAAGCTGGATTTTGAAAATACTTGGCAGCAACTCTTAGGTACAGGTTGGATTTACAAATATTATCATACTCTGTAATGTTAAAGTGATACTATTTTGATTTTTCC... | TATTAATTATAAAGCATCTCTTTTAACTCTCCTTTGGTCTAATGATGGATTAAATCAGTACCCATGTTGGATCTAAATTTCTTAATTTCTAAAGTCTACTGTAACCAAAATACAGTAGTAATATACCAGTTGTTTATACTAAAAAAAAAAATTAGAGGATGTATATATTGAATATATGTAGTACTTTTTGTCTCTTTTTGTCTTTCCAGCTAATGAAAGCTGGATTTTGAAAATACTTGGCAGCAACTCTTAGGTACAGGTTGGATTTACAAATATTATCATACTCTGTAATGTTAAAGTGATACTATTTTGATTTTTCC... |
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