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_19400 | This variant impacts the gene COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Is the change likely to result in a pathogenic outcome? | Pathogenic; Intraventricular hemorrhage | TTCTTTCAGGACAGTGGCTTTCAAACAGCCTTCATCTGCTTCTCACAGTAAGAAACATATTTTACCCTGAGTTTCAGCTTACACAGGCAAGAAAATGTCTGTCATAAAATTTCATAAAATTGAAACAAATGTTTCATAAAATCAAAACAAGTGTTTCCCTTCAAAATACTTACTTCCATGTGCTACGTTCTCTGATACTTTCTATTCTATGTTATTTCATCAAAAACAAAAATCTGCTGGCCCAACATGTCCTGGGACGTTCACAACCTGCATTTTTTCCATCCAACTAATAACAAGGATGGGGGAGAAGGGTCATGGAG... | TTCTTTCAGGACAGTGGCTTTCAAACAGCCTTCATCTGCTTCTCACAGTAAGAAACATATTTTACCCTGAGTTTCAGCTTACACAGGCAAGAAAATGTCTGTCATAAAATTTCATAAAATTGAAACAAATGTTTCATAAAATCAAAACAAGTGTTTCCCTTCAAAATACTTACTTCCATGTGCTACGTTCTCTGATACTTTCTATTCTATGTTATTTCATCAAAAACAAAAATCTGCTGGCCCAACATGTCCTGGGACGTTCACAACCTGCATTTTTTCCATCCAACTAATAACAAGGATGGGGGAGAAGGGTCATGGAG... |
Task1_train_19401 | This gene mutation involves COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Is it associated with any clinical condition, or is it benign? | Pathogenic; Brain small vessel disease 1 with or without ocular anomalies | ACTTTATTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGAGATCTTGGCTCTCTACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTATAGGTGCCTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCCAATGTCTGACCTTGTGATCTGCCAGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCTACT... | ACTTTATTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGAGATCTTGGCTCTCTACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTATAGGTGCCTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCCAATGTCTGACCTTGTGATCTGCCAGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCTACT... |
Task1_train_19402 | Gene COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | CAGGCTGGAGTGCAGTGGCGAGATCTTGGCTCTCTACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTATAGGTGCCTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCCAATGTCTGACCTTGTGATCTGCCAGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCTACTTTATAAATAACTATGTTTTTTAAGGTTTACTAGTTAGATATTTTTAATCACCTTA... | CAGGCTGGAGTGCAGTGGCGAGATCTTGGCTCTCTACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTATAGGTGCCTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCCAATGTCTGACCTTGTGATCTGCCAGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCTACTTTATAAATAACTATGTTTTTTAAGGTTTACTAGTTAGATATTTTTAATCACCTTA... |
Task1_train_19403 | Consider this mutation in COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | TCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTATAGGTGCCTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCCAATGTCTGACCTTGTGATCTGCCAGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCTACTTTATAAATAACTATGTTTTTTAAGGTTTACTAGTTAGATATTTTTAATCACCTTAAGTCCTTTCACTCACTTTTACAACTTTTGAATGTTTCCTAGCAACGC... | TCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTATAGGTGCCTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCCAATGTCTGACCTTGTGATCTGCCAGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCTACTTTATAAATAACTATGTTTTTTAAGGTTTACTAGTTAGATATTTTTAATCACCTTAAGTCCTTTCACTCACTTTTACAACTTTTGAATGTTTCCTAGCAACGC... |
Task1_train_19404 | A variant was discovered in gene COL4A1 (collagen type IV alpha 1 chain), Chromosome 13. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | AGCCTCCAGAGTAGCTGGGACTATAGGTGCCTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCCAATGTCTGACCTTGTGATCTGCCAGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCTACTTTATAAATAACTATGTTTTTTAAGGTTTACTAGTTAGATATTTTTAATCACCTTAAGTCCTTTCACTCACTTTTACAACTTTTGAATGTTTCCTAGCAACGCGCATTTACTTCCCTCATCTACACACAAG... | AGCCTCCAGAGTAGCTGGGACTATAGGTGCCTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCCAATGTCTGACCTTGTGATCTGCCAGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCTACTTTATAAATAACTATGTTTTTTAAGGTTTACTAGTTAGATATTTTTAATCACCTTAAGTCCTTTCACTCACTTTTACAACTTTTGAATGTTTCCTAGCAACGCGCATTTACTTCCCTCATCTACACACAAG... |
Task1_train_19405 | Given a variant located on Chromosome 13 and affecting COL4A1 (collagen type IV alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Retinal arterial tortuosity | ACAGTGACATTGGTGACCCTAGGACATCTCGTGTGCTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTG... | ACAGTGACATTGGTGACCCTAGGACATCTCGTGTGCTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTG... |
Task1_train_19406 | A sequence alteration has been identified in COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Is it disease-inducing or harmless? | Pathogenic; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | ACAGTGACATTGGTGACCCTAGGACATCTCGTGTGCTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTG... | ACAGTGACATTGGTGACCCTAGGACATCTCGTGTGCTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTG... |
Task1_train_19407 | The gene COL4A1 (collagen type IV alpha 1 chain) is located on Chromosome 13, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | CTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAAAATCAAATACTTG... | CTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAAAATCAAATACTTG... |
Task1_train_19408 | Here is a variant affecting COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | CTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAAAATCAAATACTTG... | CTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAAAATCAAATACTTG... |
Task1_train_19409 | With a mutation on Chromosome 13 in gene COL4A1 (collagen type IV alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | TTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAAAATCAAATACTTGT... | TTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAAAATCAAATACTTGT... |
Task1_train_19410 | This gene mutation involves COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Is it associated with any clinical condition, or is it benign? | Pathogenic; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | AAATCAGTATTCACTGATGAAGCCCACTCATACCTTTTCTCCCTTGGTGGCGAAGTCTCCTTTTTCTTGAACTTGAGCTTGTCCTGGTACTCCTGGAGGCCCACTGACCCCTTGGTCACCCTGTCGACATAAAAATGTAAAATTAATTAGGCATGAAAACAATTATGCAGACATGAAAAATTGCAGAGAGAGGTAAAAGCCTAAAATAAAACACCTATTTTTAAAATGTAATTATACTCTATTCTGTTCTAATCATCCTTGCCTCTGCAGAAAATCAAATTTCAATAGGAAGATGATACAACAAGTATCTAAACCCAGGA... | AAATCAGTATTCACTGATGAAGCCCACTCATACCTTTTCTCCCTTGGTGGCGAAGTCTCCTTTTTCTTGAACTTGAGCTTGTCCTGGTACTCCTGGAGGCCCACTGACCCCTTGGTCACCCTGTCGACATAAAAATGTAAAATTAATTAGGCATGAAAACAATTATGCAGACATGAAAAATTGCAGAGAGAGGTAAAAGCCTAAAATAAAACACCTATTTTTAAAATGTAATTATACTCTATTCTGTTCTAATCATCCTTGCCTCTGCAGAAAATCAAATTTCAATAGGAAGATGATACAACAAGTATCTAAACCCAGGA... |
Task1_train_19411 | A variant was discovered in gene COL4A1 (collagen type IV alpha 1 chain), Chromosome 13. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Brain small vessel disease 1 with or without ocular anomalies | TATGGTACATCTAACAGCTGATTTTGGAAGGAGGTAAGCCAAAATGTTATTGATGGCATGAAAAGTGAGACAAATTTTAAAATTAGGCAGATTCAGTTTTTAAGTGATTTTCTTGTATACCCATACATCATCTGCACATTAAGCACTTTTCTCTAATTAAGCCAGGGAAAATACAGAGTAATGATAATATCTGTGAGGTCAGCTGTGATCAGAAGTGCCCACAGGCTGCATCTCTTAAAAACAGTCCATGGCACCTCAAGGGACACTGCAAAGACAGTGGCCGGGAATGTAATTGAGCTTTAGGAAATGATTAAAGGGAA... | TATGGTACATCTAACAGCTGATTTTGGAAGGAGGTAAGCCAAAATGTTATTGATGGCATGAAAAGTGAGACAAATTTTAAAATTAGGCAGATTCAGTTTTTAAGTGATTTTCTTGTATACCCATACATCATCTGCACATTAAGCACTTTTCTCTAATTAAGCCAGGGAAAATACAGAGTAATGATAATATCTGTGAGGTCAGCTGTGATCAGAAGTGCCCACAGGCTGCATCTCTTAAAAACAGTCCATGGCACCTCAAGGGACACTGCAAAGACAGTGGCCGGGAATGTAATTGAGCTTTAGGAAATGATTAAAGGGAA... |
Task1_train_19412 | This alteration in COL4A2 (collagen type IV alpha 2 chain) on Chromosome 13 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Porencephaly 2 | GTTTCCTACACTTGATCTTAGCCAAAAGGCCGAGAAGCGATGGATTCGCAGTTTCCTAAAGCTGAAGGGTTAGGGGAGAATTAGGGCATGGCTGCCAGCGGCTCCAGGGTTTCATTTTCTGGGATAAAGTGTTCTCAAGTTAGACGGTGCTGCTTGCTCACAGCTCTGTGAGTACACTAAAGTTATGTAATTGTTCTGTTTACTGGAGCGAGTTGTAGGGTATATAAATTATACATCAATAAGCTGTTTTGGAAAACCTTAATTACTCTTCAGACTTACAGCTTTTACAAATTTTCAGCAAAATAAAAATTGCAATCTAG... | GTTTCCTACACTTGATCTTAGCCAAAAGGCCGAGAAGCGATGGATTCGCAGTTTCCTAAAGCTGAAGGGTTAGGGGAGAATTAGGGCATGGCTGCCAGCGGCTCCAGGGTTTCATTTTCTGGGATAAAGTGTTCTCAAGTTAGACGGTGCTGCTTGCTCACAGCTCTGTGAGTACACTAAAGTTATGTAATTGTTCTGTTTACTGGAGCGAGTTGTAGGGTATATAAATTATACATCAATAAGCTGTTTTGGAAAACCTTAATTACTCTTCAGACTTACAGCTTTTACAAATTTTCAGCAAAATAAAAATTGCAATCTAG... |
Task1_train_19413 | A variant was discovered on Chromosome 13, affecting COL4A2 (collagen type IV alpha 2 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | GTAAAATCCAACAACCTAACTTCATTTCCAAACTTTATGTTGAACAAAATAAACCAGAAACAGAAAAGTACACGATTCAGTTTCATCGATGTGAAGTTCAAGAACTGACAAGGCTGTTAGATGGGGTATCGGGAGCACAGCTGCTTTAGGTGGGGTTGTCATAGAGTGCTGACAGTGTTCTGTGTCTTTCAGTGACACACGAGTTCAGATGCATTGAGCTGTGCGTTTAAGATGAGTGGACATTACTGTATTTAAGTTTTGCTTCAGAAAAGTAAGCTTTGAGAAAGAAAAATAGAGCATTACCTAAACAAAGGTGCAGC... | GTAAAATCCAACAACCTAACTTCATTTCCAAACTTTATGTTGAACAAAATAAACCAGAAACAGAAAAGTACACGATTCAGTTTCATCGATGTGAAGTTCAAGAACTGACAAGGCTGTTAGATGGGGTATCGGGAGCACAGCTGCTTTAGGTGGGGTTGTCATAGAGTGCTGACAGTGTTCTGTGTCTTTCAGTGACACACGAGTTCAGATGCATTGAGCTGTGCGTTTAAGATGAGTGGACATTACTGTATTTAAGTTTTGCTTCAGAAAAGTAAGCTTTGAGAAAGAAAAATAGAGCATTACCTAAACAAAGGTGCAGC... |
Task1_train_19414 | Here’s a variant in COL4A2 (collagen type IV alpha 2 chain) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Porencephaly 2 | GAATGGACCCTCGGTGGATGAGAATCACTGCAGTCCATAAAGTGTAACTGATGAAAAGCCAGCTAGCACCCTGACTCCCGGAACACCTGAGGGCGTGCAGCAGGTGGTCGCTGACCCGAGCTTCTCAGAAACAGCGAAGGGTCCAGGAAAGGGGGAGTGGGAGTCAGGCCATCGCTTGAGAGAGATATGGAGGCAGCTGACCAGCCCGAGCGAGTTGTGGGGGCCTGGGGCGGCACAGTGCCTCCCTTCCCTTCTGCACATCACTGAGGTTCCACTCCTAAATTCCTGCCTGCAGTGACGTCTCAAGGGGACTGTGATAG... | GAATGGACCCTCGGTGGATGAGAATCACTGCAGTCCATAAAGTGTAACTGATGAAAAGCCAGCTAGCACCCTGACTCCCGGAACACCTGAGGGCGTGCAGCAGGTGGTCGCTGACCCGAGCTTCTCAGAAACAGCGAAGGGTCCAGGAAAGGGGGAGTGGGAGTCAGGCCATCGCTTGAGAGAGATATGGAGGCAGCTGACCAGCCCGAGCGAGTTGTGGGGGCCTGGGGCGGCACAGTGCCTCCCTTCCCTTCTGCACATCACTGAGGTTCCACTCCTAAATTCCTGCCTGCAGTGACGTCTCAAGGGGACTGTGATAG... |
Task1_train_19415 | This is a variant in COL4A2 (collagen type IV alpha 2 chain), located on Chromosome 13. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | CATAAAGTGTAACTGATGAAAAGCCAGCTAGCACCCTGACTCCCGGAACACCTGAGGGCGTGCAGCAGGTGGTCGCTGACCCGAGCTTCTCAGAAACAGCGAAGGGTCCAGGAAAGGGGGAGTGGGAGTCAGGCCATCGCTTGAGAGAGATATGGAGGCAGCTGACCAGCCCGAGCGAGTTGTGGGGGCCTGGGGCGGCACAGTGCCTCCCTTCCCTTCTGCACATCACTGAGGTTCCACTCCTAAATTCCTGCCTGCAGTGACGTCTCAAGGGGACTGTGATAGTTTTCTTCTTTCTGGGGATTTTCTTTTGGGGGGAC... | CATAAAGTGTAACTGATGAAAAGCCAGCTAGCACCCTGACTCCCGGAACACCTGAGGGCGTGCAGCAGGTGGTCGCTGACCCGAGCTTCTCAGAAACAGCGAAGGGTCCAGGAAAGGGGGAGTGGGAGTCAGGCCATCGCTTGAGAGAGATATGGAGGCAGCTGACCAGCCCGAGCGAGTTGTGGGGGCCTGGGGCGGCACAGTGCCTCCCTTCCCTTCTGCACATCACTGAGGTTCCACTCCTAAATTCCTGCCTGCAGTGACGTCTCAAGGGGACTGTGATAGTTTTCTTCTTTCTGGGGATTTTCTTTTGGGGGGAC... |
Task1_train_19416 | Chromosome 13 houses a mutation in gene COL4A2-AS1, COL4A2 (COL4A2 antisense RNA 1| collagen type IV alpha 2 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Porencephaly 2 | GAGGGCTCCTCACAGGAGAAAGGCTGGGGTGGGGGAGGGGTTCACATAGCCCCTGCCCCCCCAACCCCGCCCTGAGGGCCTCCCCAGCCCCACCATGAGATGTTCCTTGGCCTGAGGGCACCTCCCATCACTGTCTCGCTCGCTAGGCTCTGGTCCACCACAGGTGATGGTGTGGAGGGAAAATAGTAGATTTGAAAAGTTGGGTGCTAACGCTGAAAATAATTTCTTCTGTTTTCATCCTAAGGGGAACGAGGCCCACCTGGGAGCCCAGGACTTCAGGGGTTCCCTGGTATCACACCCCCTTCCAACATCTCTGGGGC... | GAGGGCTCCTCACAGGAGAAAGGCTGGGGTGGGGGAGGGGTTCACATAGCCCCTGCCCCCCCAACCCCGCCCTGAGGGCCTCCCCAGCCCCACCATGAGATGTTCCTTGGCCTGAGGGCACCTCCCATCACTGTCTCGCTCGCTAGGCTCTGGTCCACCACAGGTGATGGTGTGGAGGGAAAATAGTAGATTTGAAAAGTTGGGTGCTAACGCTGAAAATAATTTCTTCTGTTTTCATCCTAAGGGGAACGAGGCCCACCTGGGAGCCCAGGACTTCAGGGGTTCCCTGGTATCACACCCCCTTCCAACATCTCTGGGGC... |
Task1_train_19417 | A genomic change on Chromosome 13 affects NAXD (NAD(P)HX dehydratase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; NAD(P)HX dehydratase deficiency | GCGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGACGCAGGAGAATTGCTTGGACCAGGGGGTCGTAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAATTTGGGTTGATGGGGATTCATAGGATCT... | GCGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGACGCAGGAGAATTGCTTGGACCAGGGGGTCGTAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAATTTGGGTTGATGGGGATTCATAGGATCT... |
Task1_train_19418 | A variant found in Chromosome 13 affects NAXD (NAD(P)HX dehydratase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; NAD(P)HX dehydratase deficiency | TGCATTTACAACGCTATTGACACCGCTTTGCAGGAGAAGGCCATGTAAGGTGATGGGTATCAGCATTTGCCCAGGTCTCTCTTTCTTGGGTTAGCAAAACATTTCACTGCTCGGAATGGACATAAAGGTTGCATTTGCCCATCTGACGGAGGGCAGGGCTCTTCCTTTCTGTGCCTGAAGTGCCCTTAGACCTGGAGAGCCAGGGATTCCAGAACAGCCAGGCGGAAGCAGCTGGGTGGTGGGTGCCGTTTCTTGTTTGTCCCAGGTGGCCCCCATCTGGCCTCTGCTGACTGTGACTCTTGGAGGACGGGGTCTGCCCA... | TGCATTTACAACGCTATTGACACCGCTTTGCAGGAGAAGGCCATGTAAGGTGATGGGTATCAGCATTTGCCCAGGTCTCTCTTTCTTGGGTTAGCAAAACATTTCACTGCTCGGAATGGACATAAAGGTTGCATTTGCCCATCTGACGGAGGGCAGGGCTCTTCCTTTCTGTGCCTGAAGTGCCCTTAGACCTGGAGAGCCAGGGATTCCAGAACAGCCAGGCGGAAGCAGCTGGGTGGTGGGTGCCGTTTCTTGTTTGTCCCAGGTGGCCCCCATCTGGCCTCTGCTGACTGTGACTCTTGGAGGACGGGGTCTGCCCA... |
Task1_train_19419 | This genomic variant is located on Chromosome 13, within the ING1 (inhibitor of growth family member 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Squamous cell carcinoma of the head and neck | GAGTTGGGAGACCAGCCTGTCCAACATGGAGACACCCTGTCTCTACTGAAAATACAGAATTAGCCGGGCGTGGTATTACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTTTCAACAACAACAAAAAAAGGTAGTATTGTTGCCTTGTTTAAAGAGACTGCAAAAAGGTTTTAGGAGAATAATCTGGTACTGTTTAATTTAATGGTTACTGTTTGAGGAAAAAGAA... | GAGTTGGGAGACCAGCCTGTCCAACATGGAGACACCCTGTCTCTACTGAAAATACAGAATTAGCCGGGCGTGGTATTACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTTTCAACAACAACAAAAAAAGGTAGTATTGTTGCCTTGTTTAAAGAGACTGCAAAAAGGTTTTAGGAGAATAATCTGGTACTGTTTAATTTAATGGTTACTGTTTGAGGAAAAAGAA... |
Task1_train_19420 | A variant on Chromosome 13 in gene ING1 (inhibitor of growth family member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Squamous cell carcinoma of the head and neck | GTGGTATTACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTTTCAACAACAACAAAAAAAGGTAGTATTGTTGCCTTGTTTAAAGAGACTGCAAAAAGGTTTTAGGAGAATAATCTGGTACTGTTTAATTTAATGGTTACTGTTTGAGGAAAAAGAACTCTGGAATTTCTGTGTATTTAAGTAGCCTTTTTAGCAAGGCTGTTTACTTCAACTAGATTTTTTAATA... | GTGGTATTACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTTTCAACAACAACAAAAAAAGGTAGTATTGTTGCCTTGTTTAAAGAGACTGCAAAAAGGTTTTAGGAGAATAATCTGGTACTGTTTAATTTAATGGTTACTGTTTGAGGAAAAAGAACTCTGGAATTTCTGTGTATTTAAGTAGCCTTTTTAGCAAGGCTGTTTACTTCAACTAGATTTTTTAATA... |
Task1_train_19421 | This genomic variant is located on Chromosome 13, within the ING1 (inhibitor of growth family member 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Squamous cell carcinoma of the head and neck | GTATTACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTTTCAACAACAACAAAAAAAGGTAGTATTGTTGCCTTGTTTAAAGAGACTGCAAAAAGGTTTTAGGAGAATAATCTGGTACTGTTTAATTTAATGGTTACTGTTTGAGGAAAAAGAACTCTGGAATTTCTGTGTATTTAAGTAGCCTTTTTAGCAAGGCTGTTTACTTCAACTAGATTTTTTAATAGCT... | GTATTACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTTTCAACAACAACAAAAAAAGGTAGTATTGTTGCCTTGTTTAAAGAGACTGCAAAAAGGTTTTAGGAGAATAATCTGGTACTGTTTAATTTAATGGTTACTGTTTGAGGAAAAAGAACTCTGGAATTTCTGTGTATTTAAGTAGCCTTTTTAGCAAGGCTGTTTACTTCAACTAGATTTTTTAATAGCT... |
Task1_train_19422 | The gene ATP11A, LOC130010167 (ATPase phospholipid transporting 11A| ATAC-STARR-seq lymphoblastoid silent region 5534) on Chromosome 13 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hearing loss, autosomal dominant 84 | CTGATTGCGCCTCGACCCCAATCCCACAGTCACGGTTTACAAGGTAGAAGCTTAGTCAAAATCCGGCTTCAGCAGTCAGGGTTCTTGCAGGAAACTGAAGGTGTTCTTGGGAGGGGATTTGGAAGCGAGTTTGATGAAGGACTCTTTGTTGCGGTGTGGTCATGGTTCAAGGATCCTTCAAAGGGTGCTGCTATTTAGGGACCAGCAACAATGGCAGACCGACAACATGTCTCACCCTAAGAGGCTTGGGGGCGGGGAGAAGTTCTGTTCGTAGAGCCTAGAGGAGTTGTGCAATGGAAAGGGCACCCAGGAAGAATCGT... | CTGATTGCGCCTCGACCCCAATCCCACAGTCACGGTTTACAAGGTAGAAGCTTAGTCAAAATCCGGCTTCAGCAGTCAGGGTTCTTGCAGGAAACTGAAGGTGTTCTTGGGAGGGGATTTGGAAGCGAGTTTGATGAAGGACTCTTTGTTGCGGTGTGGTCATGGTTCAAGGATCCTTCAAAGGGTGCTGCTATTTAGGGACCAGCAACAATGGCAGACCGACAACATGTCTCACCCTAAGAGGCTTGGGGGCGGGGAGAAGTTCTGTTCGTAGAGCCTAGAGGAGTTGTGCAATGGAAAGGGCACCCAGGAAGAATCGT... |
Task1_train_19423 | The gene ATP11A (ATPase phospholipid transporting 11A) on Chromosome 13 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Leukodystrophy, hypomyelinating, 24 | GCTCCCCTTGCCTTTTTTATTACAGTCAACCTGAGATGGGAACTGAAAATATGGCCGTAGTTGTCATGAACTGGGGGGAGCCACTACTCTGTTTTTACCCTCATTAAGGAACTTTATTGTGAAAGGTAAAATCACTTTGTAAATGTGAATTAGAATAGAAAATGGAAATTCCTTATATACTCTCTAAGCCACTGGAAACTTGAGGCAGAGAAGTTTTAAAAGACGCACATGGATTTCCTCTGAAATATTTGTAAACACCAAATTCAGAACATGTTGGTTAGTTTAGGACCATACCAGGCTTTAGTTGTTACATTGAATTG... | GCTCCCCTTGCCTTTTTTATTACAGTCAACCTGAGATGGGAACTGAAAATATGGCCGTAGTTGTCATGAACTGGGGGGAGCCACTACTCTGTTTTTACCCTCATTAAGGAACTTTATTGTGAAAGGTAAAATCACTTTGTAAATGTGAATTAGAATAGAAAATGGAAATTCCTTATATACTCTCTAAGCCACTGGAAACTTGAGGCAGAGAAGTTTTAAAAGACGCACATGGATTTCCTCTGAAATATTTGTAAACACCAAATTCAGAACATGTTGGTTAGTTTAGGACCATACCAGGCTTTAGTTGTTACATTGAATTG... |
Task1_train_19424 | A mutation found in F7 (coagulation factor VII) on Chromosome 13 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Factor VII deficiency | GTCCAGCCCCAGGCAAGGTTCCAGGCATGCCCCTGGGACAGACGTGGGAGGGAGACCAGCAGGCAGGTCCCCCTCAGGGAGGTATGGAGCGGGTCCCCGGGGCCAGGTGGAGCCCCTCACACCTGTGTCCTCAAGGACCCACACCAGGACAATGGCCATAGGCGGGCACCTGCAGCCGCCCTGGCCAGCAGTGAGACGGGCAGAGAGCCCAGCCAGATAGCCCGGTTCCTGCCCCCTCCCGCCTGCCCGCACAGAGAGGGCTGCATGCAGGTGAGGGTCCATCACCTGAAGAGCTTCACCAGCCCCGAGGCCATGAGCCA... | GTCCAGCCCCAGGCAAGGTTCCAGGCATGCCCCTGGGACAGACGTGGGAGGGAGACCAGCAGGCAGGTCCCCCTCAGGGAGGTATGGAGCGGGTCCCCGGGGCCAGGTGGAGCCCCTCACACCTGTGTCCTCAAGGACCCACACCAGGACAATGGCCATAGGCGGGCACCTGCAGCCGCCCTGGCCAGCAGTGAGACGGGCAGAGAGCCCAGCCAGATAGCCCGGTTCCTGCCCCCTCCCGCCTGCCCGCACAGAGAGGGCTGCATGCAGGTGAGGGTCCATCACCTGAAGAGCTTCACCAGCCCCGAGGCCATGAGCCA... |
Task1_train_19425 | Here’s a variant in F7 (coagulation factor VII) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Factor VII deficiency | GTCCCGGGAGTGTGGGTGTCCCAGGGGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGCGTGGGTGTCCCAGGGGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGATGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTG... | GTCCCGGGAGTGTGGGTGTCCCAGGGGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGCGTGGGTGTCCCAGGGGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGATGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTG... |
Task1_train_19426 | Gene F7 (coagulation factor VII), found on Chromosome 13, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Factor VII deficiency | ACACCCACAGGACACCTCACACAGGGCACACTTCACACTCACGGGTCACCTCACACTCACAGGACACCTCACACTCAGGGCGCACTTCACACTCACGGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACAGGACACCTCACACTCAGGGTGCACTTCAAACCCACAGGTCATTTCACCTCACACTCACAGGACACCTCACACAAGATACCACACGGGGCACACTTCACACTCACAGGTCACCTCACACTCACAGGACACCTCACAGAGGTCACCTCACACGGGGCACACTTCACACTCACAGGTCAC... | ACACCCACAGGACACCTCACACAGGGCACACTTCACACTCACGGGTCACCTCACACTCACAGGACACCTCACACTCAGGGCGCACTTCACACTCACGGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACAGGACACCTCACACTCAGGGTGCACTTCAAACCCACAGGTCATTTCACCTCACACTCACAGGACACCTCACACAAGATACCACACGGGGCACACTTCACACTCACAGGTCACCTCACACTCACAGGACACCTCACAGAGGTCACCTCACACGGGGCACACTTCACACTCACAGGTCAC... |
Task1_train_19427 | A mutation in F7 (coagulation factor VII), located on Chromosome 13, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Factor VII deficiency | CAGACATGTGGCTCCTCTGATCCACGCCTTGTCCTTTGGATCAGTCCACGGAGCAGGTGGTGCCAAGCTCAGGCTCTGTCACCCACAGCTCAGTGCCACCTTCCAGGCAGAACACCACTGCTGACCCAGGGCATGGCCACCCCGGGGGCTGGCTCTCGCTGACCCCCAGAAGCCCCTCTCAGGGTGTCCCCTTCCTGTCCCCAGACAAGGATGACCAGCTGATCTGTGTGAACGAGAACGGCGGCTGTGAGCAGTACTGCAGTGACCACACGGGCACCAAGCGCTCCTGTCGGTGCCACGAGGGGTACTCTCTGCTGGCA... | CAGACATGTGGCTCCTCTGATCCACGCCTTGTCCTTTGGATCAGTCCACGGAGCAGGTGGTGCCAAGCTCAGGCTCTGTCACCCACAGCTCAGTGCCACCTTCCAGGCAGAACACCACTGCTGACCCAGGGCATGGCCACCCCGGGGGCTGGCTCTCGCTGACCCCCAGAAGCCCCTCTCAGGGTGTCCCCTTCCTGTCCCCAGACAAGGATGACCAGCTGATCTGTGTGAACGAGAACGGCGGCTGTGAGCAGTACTGCAGTGACCACACGGGCACCAAGCGCTCCTGTCGGTGCCACGAGGGGTACTCTCTGCTGGCA... |
Task1_train_19428 | Gene F7 (coagulation factor VII), found on Chromosome 13, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Factor VII deficiency | AGCCAGCCACTTCTTCAAGGGCCTCTCATGGCCGGGCCCCACCAGTCAGGCCCAGCCGAGGCCCTGCCTTCCACCACCCCTGGGCCCTGGGAGCTCCTGCTCCTGGGGGCCTCCCATAGCCTCGGCCTCAAGGCCTCTCAGAGGATGGGTGTTTCTGAATCTTTCCTAGTGGCACGTTCATCCCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGG... | AGCCAGCCACTTCTTCAAGGGCCTCTCATGGCCGGGCCCCACCAGTCAGGCCCAGCCGAGGCCCTGCCTTCCACCACCCCTGGGCCCTGGGAGCTCCTGCTCCTGGGGGCCTCCCATAGCCTCGGCCTCAAGGCCTCTCAGAGGATGGGTGTTTCTGAATCTTTCCTAGTGGCACGTTCATCCCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGG... |
Task1_train_19429 | Consider a variant on Chromosome 13 in gene F7 (coagulation factor VII). Determine its clinical classification and disease relevance. | Pathogenic; Congenital factor VII deficiency | CCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGG... | CCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGG... |
Task1_train_19430 | The gene F7 (coagulation factor VII) is located on Chromosome 13, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Congenital factor VII deficiency | CCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGG... | CCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGG... |
Task1_train_19431 | Given this context: Chromosome 13, gene F7 (coagulation factor VII) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Myocardial infarction, susceptibility to | CCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGG... | CCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGG... |
Task1_train_19432 | A variant found in Chromosome 13 affects F7 (coagulation factor VII). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Factor VII deficiency | AAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATC... | AAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATC... |
Task1_train_19433 | This variant lies on Chromosome 13 and affects the gene F7 (coagulation factor VII). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | CAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGT... | CAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGT... |
Task1_train_19434 | A change on Chromosome 13 affects gene F10, F10-AS1 (coagulation factor X| F10 antisense RNA 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Factor X deficiency | GCTGTCAAAATGAAAAGAGGAGGAGGAGTGGGTGAGAGACAAAGGAGACACAGGCAGAGAGATGTGGACAGCACAGCCCACAGACACACACTCTACAAGGGACACAGACTCTCGGATCCAGGGCATTTTAACCAGCAGATCAAGACTCATTTGCCAGTCATGAAATCAACTCAGTATTTTTTTTTAAAAGAGTAGAATCAAATAGAAAACTTTGTACTAAGTACTGTATTTTAGGAAATACTAATAAATACTATTTCTTGAAAGTTGGCATGTATGTGTGTCCTGGCACTTCATAAATTGTACTATTATAGTTTGTAATT... | GCTGTCAAAATGAAAAGAGGAGGAGGAGTGGGTGAGAGACAAAGGAGACACAGGCAGAGAGATGTGGACAGCACAGCCCACAGACACACACTCTACAAGGGACACAGACTCTCGGATCCAGGGCATTTTAACCAGCAGATCAAGACTCATTTGCCAGTCATGAAATCAACTCAGTATTTTTTTTTAAAAGAGTAGAATCAAATAGAAAACTTTGTACTAAGTACTGTATTTTAGGAAATACTAATAAATACTATTTCTTGAAAGTTGGCATGTATGTGTGTCCTGGCACTTCATAAATTGTACTATTATAGTTTGTAATT... |
Task1_train_19435 | This is a variant in F10, F10-AS1 (coagulation factor X| F10 antisense RNA 1), located on Chromosome 13. Is this mutation a likely cause of disease or not? | Pathogenic; Factor X deficiency | AGCCCACAGACACACACTCTACAAGGGACACAGACTCTCGGATCCAGGGCATTTTAACCAGCAGATCAAGACTCATTTGCCAGTCATGAAATCAACTCAGTATTTTTTTTTAAAAGAGTAGAATCAAATAGAAAACTTTGTACTAAGTACTGTATTTTAGGAAATACTAATAAATACTATTTCTTGAAAGTTGGCATGTATGTGTGTCCTGGCACTTCATAAATTGTACTATTATAGTTTGTAATTGAAACAGCATCACCAATCCCCACATAACAAAGAGCAGAGACCTTAAAGACGAGTGGGGCCAGGCTGAAGGGGCA... | AGCCCACAGACACACACTCTACAAGGGACACAGACTCTCGGATCCAGGGCATTTTAACCAGCAGATCAAGACTCATTTGCCAGTCATGAAATCAACTCAGTATTTTTTTTTAAAAGAGTAGAATCAAATAGAAAACTTTGTACTAAGTACTGTATTTTAGGAAATACTAATAAATACTATTTCTTGAAAGTTGGCATGTATGTGTGTCCTGGCACTTCATAAATTGTACTATTATAGTTTGTAATTGAAACAGCATCACCAATCCCCACATAACAAAGAGCAGAGACCTTAAAGACGAGTGGGGCCAGGCTGAAGGGGCA... |
Task1_train_19436 | Given this variant in gene F10 (coagulation factor X) on Chromosome 13, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Factor X deficiency | TACTTTCAATTAAATTTCAATTTCACATAAACTAGAAATACTTTCAGTGTAAGTATGTTCCAAGTATCGCATGAAGCATACATATGCGAAAAATTATTTGCTGTTTATCTGATTCAAGTCAAACTAGGTGTATTAGTCAGTTTTCACACTGCTGACACATACATACCCGAGACTGGGTAATTTATAAAGAAAAAGAGGTTGAATGAACTCACAGTTCCACGTGGCTGGGGAGGCCTCACCGTCACGGTGGAAGGCGCAAGGCACGTCTTACATGGCGGCAGCAAGACAGAGAATGAGAGAACAAGCAAAAGGGGTTTCCC... | TACTTTCAATTAAATTTCAATTTCACATAAACTAGAAATACTTTCAGTGTAAGTATGTTCCAAGTATCGCATGAAGCATACATATGCGAAAAATTATTTGCTGTTTATCTGATTCAAGTCAAACTAGGTGTATTAGTCAGTTTTCACACTGCTGACACATACATACCCGAGACTGGGTAATTTATAAAGAAAAAGAGGTTGAATGAACTCACAGTTCCACGTGGCTGGGGAGGCCTCACCGTCACGGTGGAAGGCGCAAGGCACGTCTTACATGGCGGCAGCAAGACAGAGAATGAGAGAACAAGCAAAAGGGGTTTCCC... |
Task1_train_19437 | A variant affecting Chromosome 13, within the gene F10 (coagulation factor X), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Factor X deficiency | GATGTTTCTGCACAGACTGGCGTCTCCTGGTCCCAGGTAGAAATCCTGCCACAGAGACGGGAAAGGCTGCTCCCACAGGGAGCATCTTTTCCAAAGCATGGACAGATGTGTCGTGTGCATGAGACTTTAGAGAGCTCTGTGATGGAGTTGGTAGAAAGAAGAGATGACTCCCTATATCAGTGAGTGTGTGGCACAGGCAGAGAAAAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACAC... | GATGTTTCTGCACAGACTGGCGTCTCCTGGTCCCAGGTAGAAATCCTGCCACAGAGACGGGAAAGGCTGCTCCCACAGGGAGCATCTTTTCCAAAGCATGGACAGATGTGTCGTGTGCATGAGACTTTAGAGAGCTCTGTGATGGAGTTGGTAGAAAGAAGAGATGACTCCCTATATCAGTGAGTGTGTGGCACAGGCAGAGAAAAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACAC... |
Task1_train_19438 | With a mutation on Chromosome 13 in gene F10 (coagulation factor X), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Factor X deficiency | TCTTTTCCAAAGCATGGACAGATGTGTCGTGTGCATGAGACTTTAGAGAGCTCTGTGATGGAGTTGGTAGAAAGAAGAGATGACTCCCTATATCAGTGAGTGTGTGGCACAGGCAGAGAAAAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGT... | TCTTTTCCAAAGCATGGACAGATGTGTCGTGTGCATGAGACTTTAGAGAGCTCTGTGATGGAGTTGGTAGAAAGAAGAGATGACTCCCTATATCAGTGAGTGTGTGGCACAGGCAGAGAAAAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGT... |
Task1_train_19439 | A change on Chromosome 13 affects gene F10 (coagulation factor X). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Factor X deficiency | TGTCGTGTGCATGAGACTTTAGAGAGCTCTGTGATGGAGTTGGTAGAAAGAAGAGATGACTCCCTATATCAGTGAGTGTGTGGCACAGGCAGAGAAAAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGTGGAACCATTCTGAGCGAGTTCTAC... | TGTCGTGTGCATGAGACTTTAGAGAGCTCTGTGATGGAGTTGGTAGAAAGAAGAGATGACTCCCTATATCAGTGAGTGTGTGGCACAGGCAGAGAAAAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGTGGAACCATTCTGAGCGAGTTCTAC... |
Task1_train_19440 | Gene F10 (coagulation factor X) on Chromosome 13 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary factor X deficiency disease | AAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGTGGAACCATTCTGAGCGAGTTCTACATCCTAACGGCAGCCCACTGTCTCTACCAAGCCAAGAGATTCAAGGTGAGGGTAGGTAAGTGACCAACAGCCCCCAGGGCCGTGGTGAGGGGCACC... | AAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGTGGAACCATTCTGAGCGAGTTCTACATCCTAACGGCAGCCCACTGTCTCTACCAAGCCAAGAGATTCAAGGTGAGGGTAGGTAAGTGACCAACAGCCCCCAGGGCCGTGGTGAGGGGCACC... |
Task1_train_19441 | Given this context: Chromosome 13, gene GRK1 (G protein-coupled receptor kinase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Retinal dystrophy | CGTTAGCAAGACACCAACAGATGTGCGAGCGAGGCTCCAGGCTCCATCGCTCCCTGATCCGCTGGCGGAGCCAGAACACAGAGCGTGGAGTGGAAAGTGTGTTTTGAATTTAGTAAAGTGTTGGGAAGCAGCCACTCAGATACTCTCGTGGACAGAGCTGATGGCTGGACACACATGTGATCTGCTTTCCCTCCTGAAGTCCCGGGACAGGGGCAGTGAAGGGATCTCGCTAAAAGTACAAACCCACGTGCTCAAAGGAGGGTGTGAGCGGCAGCGTCATGGCAGCTGGAAGACTGATGATGGGTGAGGGGAGCCGGCAG... | CGTTAGCAAGACACCAACAGATGTGCGAGCGAGGCTCCAGGCTCCATCGCTCCCTGATCCGCTGGCGGAGCCAGAACACAGAGCGTGGAGTGGAAAGTGTGTTTTGAATTTAGTAAAGTGTTGGGAAGCAGCCACTCAGATACTCTCGTGGACAGAGCTGATGGCTGGACACACATGTGATCTGCTTTCCCTCCTGAAGTCCCGGGACAGGGGCAGTGAAGGGATCTCGCTAAAAGTACAAACCCACGTGCTCAAAGGAGGGTGTGAGCGGCAGCGTCATGGCAGCTGGAAGACTGATGATGGGTGAGGGGAGCCGGCAG... |
Task1_train_19442 | Gene TTC5 (tetratricopeptide repeat domain 5) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | ATATCCCTTTCTAATTCTTCTCAGCTCTAGGATTTGCTCTAGTAAACTAAACTGTTCTCAACTATCTTTTTGCCCTTCAACTCGTCAAATATACAAACCCCTAGAAAATGCCATGGAGAAAGCTTGGGCATATAATGGGAATTGTGAATATTTCTGTTTAGATGAACAGAAAGGATGTGAAAAGCAATAGTGAGAGATAAGTCAGAATGTTTTGGAACCATGCAATAGAAGTTGCTGGATCCAGTGCCTAGAAAGACAATGGTGATCCTAGGAAAATAACAATTTCAGTAGAAAAGAGAAAGGGGAAACCGGTCAACCAG... | ATATCCCTTTCTAATTCTTCTCAGCTCTAGGATTTGCTCTAGTAAACTAAACTGTTCTCAACTATCTTTTTGCCCTTCAACTCGTCAAATATACAAACCCCTAGAAAATGCCATGGAGAAAGCTTGGGCATATAATGGGAATTGTGAATATTTCTGTTTAGATGAACAGAAAGGATGTGAAAAGCAATAGTGAGAGATAAGTCAGAATGTTTTGGAACCATGCAATAGAAGTTGCTGGATCCAGTGCCTAGAAAGACAATGGTGATCCTAGGAAAATAACAATTTCAGTAGAAAAGAGAAAGGGGAAACCGGTCAACCAG... |
Task1_train_19443 | This variant lies on Chromosome 14 and affects the gene TTC5 (tetratricopeptide repeat domain 5). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | TCCCAGCACTTTGGAAAGCCAAGGCTGGCAGATCACCTGAGGTCAGGAGCTCAAGACCAGACTGGCCAACCTGGTGAAACACTGTCTCTACTAAAAATACAAAACTTAGCTAGGCATGGTGGCATGCACCTGTAATTCCAGCTACTCAGGAGGCTGAGGTAGAATTGTTTTAACATGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTTCATCTCAAAAAAAATAAATAAATGAATGAAATAGGTGAAATCATTTTGATTTTTAAAAATTTAAATAGTGAAGTG... | TCCCAGCACTTTGGAAAGCCAAGGCTGGCAGATCACCTGAGGTCAGGAGCTCAAGACCAGACTGGCCAACCTGGTGAAACACTGTCTCTACTAAAAATACAAAACTTAGCTAGGCATGGTGGCATGCACCTGTAATTCCAGCTACTCAGGAGGCTGAGGTAGAATTGTTTTAACATGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTTCATCTCAAAAAAAATAAATAAATGAATGAAATAGGTGAAATCATTTTGATTTTTAAAAATTTAAATAGTGAAGTG... |
Task1_train_19444 | A variant was discovered in gene OSGEP (O-sialoglycoprotein endopeptidase), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Galloway-Mowat syndrome | TACAGATACTGGAAGATGGTTAGTTTCAGGGGCAAAAGCTTGTAAATGTATACTGATTGTTTCTATTTTCTTACTGAAATAGGAACTAAGGTAAGAGTCAGAATAGGGGGAGATGTTAAGAGATTTGAGGGGTCAGAAGGTATGAAACAGTCACTAGAAAAGAGGGCAAGTGAAAGGACTAGAGAGATGGCATATTTCTGGGTGGCATAAAGGACCCATTTTAGTGTCATGGTCGTAAGTTTGAAGTAAGATCAGTCAGCATGGCTATTTTTTACTAGCCCTTTCAGCTGCATGGGTCTAAAGTAGGTGATGAGTTGAAT... | TACAGATACTGGAAGATGGTTAGTTTCAGGGGCAAAAGCTTGTAAATGTATACTGATTGTTTCTATTTTCTTACTGAAATAGGAACTAAGGTAAGAGTCAGAATAGGGGGAGATGTTAAGAGATTTGAGGGGTCAGAAGGTATGAAACAGTCACTAGAAAAGAGGGCAAGTGAAAGGACTAGAGAGATGGCATATTTCTGGGTGGCATAAAGGACCCATTTTAGTGTCATGGTCGTAAGTTTGAAGTAAGATCAGTCAGCATGGCTATTTTTTACTAGCCCTTTCAGCTGCATGGGTCTAAAGTAGGTGATGAGTTGAAT... |
Task1_train_19445 | This variant impacts the gene OSGEP (O-sialoglycoprotein endopeptidase) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Galloway-Mowat syndrome 3 | TACAGATACTGGAAGATGGTTAGTTTCAGGGGCAAAAGCTTGTAAATGTATACTGATTGTTTCTATTTTCTTACTGAAATAGGAACTAAGGTAAGAGTCAGAATAGGGGGAGATGTTAAGAGATTTGAGGGGTCAGAAGGTATGAAACAGTCACTAGAAAAGAGGGCAAGTGAAAGGACTAGAGAGATGGCATATTTCTGGGTGGCATAAAGGACCCATTTTAGTGTCATGGTCGTAAGTTTGAAGTAAGATCAGTCAGCATGGCTATTTTTTACTAGCCCTTTCAGCTGCATGGGTCTAAAGTAGGTGATGAGTTGAAT... | TACAGATACTGGAAGATGGTTAGTTTCAGGGGCAAAAGCTTGTAAATGTATACTGATTGTTTCTATTTTCTTACTGAAATAGGAACTAAGGTAAGAGTCAGAATAGGGGGAGATGTTAAGAGATTTGAGGGGTCAGAAGGTATGAAACAGTCACTAGAAAAGAGGGCAAGTGAAAGGACTAGAGAGATGGCATATTTCTGGGTGGCATAAAGGACCCATTTTAGTGTCATGGTCGTAAGTTTGAAGTAAGATCAGTCAGCATGGCTATTTTTTACTAGCCCTTTCAGCTGCATGGGTCTAAAGTAGGTGATGAGTTGAAT... |
Task1_train_19446 | Assess the clinical impact of this variant on gene OSGEP (O-sialoglycoprotein endopeptidase), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Galloway-Mowat syndrome 3 | GCTGAAGGAGGGAAATAAAAATACGTGGGGGATAAAATCTGCAGAAAGGAAGTATGATCAATGGACCGTAGGTCCTGGTGAAGGGATGAACTGTTGGATTTAGCATACTAAAGAAAATGAACTGGAAGAACAGGAGGTGGTGGTAGTCGAGAGTGGGACGTCTGAAACTGAGATGTGGAGGATCTGCAGCTCCAGAACATGACCAAGGAAATAAGTGGCTGAAGCGGGTGTTAGTATGATCTACCTGAATACTGAAATAAGATTTATGACAAACGTGGTGTTCGTATGGTAGTTTCTTTCAAAGCAGAAGGGTACTAGGG... | GCTGAAGGAGGGAAATAAAAATACGTGGGGGATAAAATCTGCAGAAAGGAAGTATGATCAATGGACCGTAGGTCCTGGTGAAGGGATGAACTGTTGGATTTAGCATACTAAAGAAAATGAACTGGAAGAACAGGAGGTGGTGGTAGTCGAGAGTGGGACGTCTGAAACTGAGATGTGGAGGATCTGCAGCTCCAGAACATGACCAAGGAAATAAGTGGCTGAAGCGGGTGTTAGTATGATCTACCTGAATACTGAAATAAGATTTATGACAAACGTGGTGTTCGTATGGTAGTTTCTTTCAAAGCAGAAGGGTACTAGGG... |
Task1_train_19447 | Gene OSGEP (O-sialoglycoprotein endopeptidase) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Galloway-Mowat syndrome 3 | TACTAGGGATGAGGGATAATGGTCTGGAAACAGTATGAGGACACGTGCACCACCTCCAGGCCCAGTGGGACACTGGGTGTGGAAGGGAAAATGCCACCACTACTGAGGTGGTAGGAGAAGCAGAGTCCTCATAAGAAACCAAGTCTGAAGAGCATAAATGTGAAGGGAACGTTCAGAGAAGAGGTTGAGGACACAGAGAATTTGACAAATGACTGGCCATCAGTTCCAGAGGGCACAGTGGAAGAGCTTCTAGAGTTGGAAAAGGTAGGTAGATGGAGACAAAACAGAGTGGAGATACATGGTTATTAAGTGTAAAAGAT... | TACTAGGGATGAGGGATAATGGTCTGGAAACAGTATGAGGACACGTGCACCACCTCCAGGCCCAGTGGGACACTGGGTGTGGAAGGGAAAATGCCACCACTACTGAGGTGGTAGGAGAAGCAGAGTCCTCATAAGAAACCAAGTCTGAAGAGCATAAATGTGAAGGGAACGTTCAGAGAAGAGGTTGAGGACACAGAGAATTTGACAAATGACTGGCCATCAGTTCCAGAGGGCACAGTGGAAGAGCTTCTAGAGTTGGAAAAGGTAGGTAGATGGAGACAAAACAGAGTGGAGATACATGGTTATTAAGTGTAAAAGAT... |
Task1_train_19448 | Consider this mutation in LOC107372315, OSGEP (OSGEP/APEX1 bi-directional promoter region| O-sialoglycoprotein endopeptidase) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | CTCTTTCCGGCTTCTATATAGGCTATTCAACTTTCAGAAATGCTCTTCTTCTTACCCTACTCAGCCTTCAGGTCTCAATGCAAGTAGTATCTACCTCATACCCTTTCGTGATCTTTTTTTTTTTTTTTTCTTTTGAGACAGTCTCAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGAGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGACACCACCACGCTCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTG... | CTCTTTCCGGCTTCTATATAGGCTATTCAACTTTCAGAAATGCTCTTCTTCTTACCCTACTCAGCCTTCAGGTCTCAATGCAAGTAGTATCTACCTCATACCCTTTCGTGATCTTTTTTTTTTTTTTTTCTTTTGAGACAGTCTCAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGAGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGACACCACCACGCTCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTG... |
Task1_train_19449 | Gene PNP (purine nucleoside phosphorylase), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Purine-nucleoside phosphorylase deficiency | TATCTTCTTTTCCCTGGAGAGTTAAGAATTTTTTTTTAAGACCTGTCAGCAGGAAAAGACCTTTAATAGCTATTTTTTTAAACTCTTTAACACAAGACTGGAAGAGCAGAGGGAGAAGGTGAGGGAAATATTAACAGAGGGTGTGTGAAGGGCATACTTCTCTAAGGGAGATAGTAGTGACGCTGGCTCCACTGGCCACTCCTACCCCCAGTGAGAAGGGCACTGCATTAAATGATAAGTGGGTTAGTTTTTTTAAGCTTATCAACATGTTTATTTTTTATACTCCACTTGGGTTTCCTTTGTCAACTTTATTACTGTTT... | TATCTTCTTTTCCCTGGAGAGTTAAGAATTTTTTTTTAAGACCTGTCAGCAGGAAAAGACCTTTAATAGCTATTTTTTTAAACTCTTTAACACAAGACTGGAAGAGCAGAGGGAGAAGGTGAGGGAAATATTAACAGAGGGTGTGTGAAGGGCATACTTCTCTAAGGGAGATAGTAGTGACGCTGGCTCCACTGGCCACTCCTACCCCCAGTGAGAAGGGCACTGCATTAAATGATAAGTGGGTTAGTTTTTTTAAGCTTATCAACATGTTTATTTTTTATACTCCACTTGGGTTTCCTTTGTCAACTTTATTACTGTTT... |
Task1_train_19450 | This mutation occurs in PNP (purine nucleoside phosphorylase) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Purine-nucleoside phosphorylase deficiency | ACTTTATTACTGTTTTTGTTTTGTTTTTTTGCATAAGCTCCTCTATCTTTGAGAATTTCTCAGCTCTTCCTCTTGGTTCTAGTCCCTCTCCCATTCCCTAAGGGATAGGTTGGCCGTCTATTAGAAGTGACTGCCAGATAAAAGAAATGGTAATAATGGCTGTTATGTCTGTGGGGAGTTATCTTTGCACTCCCACGCACCCCTCCGTGGGCATGTGTTCCCATAGGACTGTTCCGTGGGTCATAAGGAAAGAGACACTTGCATGCGTTCAAATTCTTTCCCCCTTGTTCAGTAGCCTCTTCTTTAAGAAGCCAGAGTAA... | ACTTTATTACTGTTTTTGTTTTGTTTTTTTGCATAAGCTCCTCTATCTTTGAGAATTTCTCAGCTCTTCCTCTTGGTTCTAGTCCCTCTCCCATTCCCTAAGGGATAGGTTGGCCGTCTATTAGAAGTGACTGCCAGATAAAAGAAATGGTAATAATGGCTGTTATGTCTGTGGGGAGTTATCTTTGCACTCCCACGCACCCCTCCGTGGGCATGTGTTCCCATAGGACTGTTCCGTGGGTCATAAGGAAAGAGACACTTGCATGCGTTCAAATTCTTTCCCCCTTGTTCAGTAGCCTCTTCTTTAAGAAGCCAGAGTAA... |
Task1_train_19451 | This sequence variant lies in PNP (purine nucleoside phosphorylase) on Chromosome 14. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not specified | ACTTTATTACTGTTTTTGTTTTGTTTTTTTGCATAAGCTCCTCTATCTTTGAGAATTTCTCAGCTCTTCCTCTTGGTTCTAGTCCCTCTCCCATTCCCTAAGGGATAGGTTGGCCGTCTATTAGAAGTGACTGCCAGATAAAAGAAATGGTAATAATGGCTGTTATGTCTGTGGGGAGTTATCTTTGCACTCCCACGCACCCCTCCGTGGGCATGTGTTCCCATAGGACTGTTCCGTGGGTCATAAGGAAAGAGACACTTGCATGCGTTCAAATTCTTTCCCCCTTGTTCAGTAGCCTCTTCTTTAAGAAGCCAGAGTAA... | ACTTTATTACTGTTTTTGTTTTGTTTTTTTGCATAAGCTCCTCTATCTTTGAGAATTTCTCAGCTCTTCCTCTTGGTTCTAGTCCCTCTCCCATTCCCTAAGGGATAGGTTGGCCGTCTATTAGAAGTGACTGCCAGATAAAAGAAATGGTAATAATGGCTGTTATGTCTGTGGGGAGTTATCTTTGCACTCCCACGCACCCCTCCGTGGGCATGTGTTCCCATAGGACTGTTCCGTGGGTCATAAGGAAAGAGACACTTGCATGCGTTCAAATTCTTTCCCCCTTGTTCAGTAGCCTCTTCTTTAAGAAGCCAGAGTAA... |
Task1_train_19452 | Chromosome 14 houses a mutation in gene ANG, EGILA, RNASE4 (angiogenin| EGFR interacting lncRNA| ribonuclease A family member 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Amyotrophic lateral sclerosis type 9 | TTAGAGATAGCAACTCTCTCAAGTATGGACAAATGTCGGTGCGGACAAATTTGATGCACTGCTGAAGAATACCAAATAATATGCTAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCA... | TTAGAGATAGCAACTCTCTCAAGTATGGACAAATGTCGGTGCGGACAAATTTGATGCACTGCTGAAGAATACCAAATAATATGCTAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCA... |
Task1_train_19453 | Given this context: Chromosome 14, gene ANG, EGILA, RNASE4 (angiogenin| EGFR interacting lncRNA| ribonuclease A family member 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Amyotrophic lateral sclerosis type 9 | TCTCTCAAGTATGGACAAATGTCGGTGCGGACAAATTTGATGCACTGCTGAAGAATACCAAATAATATGCTAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTT... | TCTCTCAAGTATGGACAAATGTCGGTGCGGACAAATTTGATGCACTGCTGAAGAATACCAAATAATATGCTAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTT... |
Task1_train_19454 | Here is a mutation in ANG, EGILA, RNASE4 (angiogenin| EGFR interacting lncRNA| ribonuclease A family member 4) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Amyotrophic lateral sclerosis type 9 | ACTGCTGAAGAATACCAAATAATATGCTAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCAC... | ACTGCTGAAGAATACCAAATAATATGCTAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCAC... |
Task1_train_19455 | This variant lies on Chromosome 14 and affects the gene ANG, EGILA, RNASE4 (angiogenin| EGFR interacting lncRNA| ribonuclease A family member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Amyotrophic lateral sclerosis type 9 | GCTAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCT... | GCTAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCT... |
Task1_train_19456 | This alteration occurs within gene ANG, EGILA, RNASE4 (angiogenin| EGFR interacting lncRNA| ribonuclease A family member 4) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; Amyotrophic lateral sclerosis type 9 | TAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCTGC... | TAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCTGC... |
Task1_train_19457 | Here’s a variant in ANG, EGILA, RNASE4 (angiogenin| EGFR interacting lncRNA| ribonuclease A family member 4) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Amyotrophic lateral sclerosis type 9 | ACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCTGCAAGGGCTACAGAACTATTTGATACGAAAATGTTCATTGACTTACACACAAGAGAAGCACAAAATAAAAAATTAATAATTAATTTAATGTCTTTGAAAATGTACCATTTATTTTTACATTTGGGGTCATAAGAATTGTATTACACTTAAGAATGCAATACAATTTGAAGATCAGATTTTTCTCCCTTTGTGAGAATTTCTCAGTATGTGTGATGACTAC... | ACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCTGCAAGGGCTACAGAACTATTTGATACGAAAATGTTCATTGACTTACACACAAGAGAAGCACAAAATAAAAAATTAATAATTAATTTAATGTCTTTGAAAATGTACCATTTATTTTTACATTTGGGGTCATAAGAATTGTATTACACTTAAGAATGCAATACAATTTGAAGATCAGATTTTTCTCCCTTTGTGAGAATTTCTCAGTATGTGTGATGACTAC... |
Task1_train_19458 | This variant affects the gene RPGRIP1 (RPGR interacting protein 1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Retinal dystrophy | AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACA... | AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACA... |
Task1_train_19459 | A mutation found in RPGRIP1 (RPGR interacting protein 1) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Leber congenital amaurosis 6 | AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACA... | AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACA... |
Task1_train_19460 | A genomic change on Chromosome 14 affects RPGRIP1 (RPGR interacting protein 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cone-rod dystrophy 13 | AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACA... | AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACA... |
Task1_train_19461 | Assess the clinical impact of this variant on gene RPGRIP1 (RPGR interacting protein 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Leber congenital amaurosis 6 | AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACA... | AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACA... |
Task1_train_19462 | This alteration in RPGRIP1 (RPGR interacting protein 1) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cone-rod dystrophy 13 | AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACA... | AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACA... |
Task1_train_19463 | The gene RPGRIP1 (RPGR interacting protein 1) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Leber congenital amaurosis 6 | AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACA... | AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACA... |
Task1_train_19464 | This mutation is located in gene RPGRIP1 (RPGR interacting protein 1) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cone dystrophy | CTTTAACTCTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTG... | CTTTAACTCTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTG... |
Task1_train_19465 | This variant impacts the gene RPGRIP1 (RPGR interacting protein 1) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Retinal dystrophy | CAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATT... | CAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATT... |
Task1_train_19466 | A mutation found in SUPT16H (SPT16 homolog, facilitates chromatin remodeling subunit) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | TTTGTTAACAGTACCTCCCCTCAAAAAGTCTGAAGTGCTTTTGTGCTTTAAAATAAAAATTCCAACTTTTAAGTTCAGGAGTGCATGGGCAGGATTTGCAGGTTTGTTACACAGGTAAACGTGTGCCATGGTGGTTTGCTGCACAGATCATCCCTGAAGTGCTTTCGTTGCCCTTCATTCTCTCGTAACTATAAAACTAACATGTACATACACCTTTAATATTTAAGGTCACCATGCCATTACCTGTCAAGCTGAGTCTGCAACCTAAGCCTAAACTCTTGTAATACCCTATCTCAGCAGATACTTGAGTTGCTCTGCAC... | TTTGTTAACAGTACCTCCCCTCAAAAAGTCTGAAGTGCTTTTGTGCTTTAAAATAAAAATTCCAACTTTTAAGTTCAGGAGTGCATGGGCAGGATTTGCAGGTTTGTTACACAGGTAAACGTGTGCCATGGTGGTTTGCTGCACAGATCATCCCTGAAGTGCTTTCGTTGCCCTTCATTCTCTCGTAACTATAAAACTAACATGTACATACACCTTTAATATTTAAGGTCACCATGCCATTACCTGTCAAGCTGAGTCTGCAACCTAAGCCTAAACTCTTGTAATACCCTATCTCAGCAGATACTTGAGTTGCTCTGCAC... |
Task1_train_19467 | A genomic change on Chromosome 14 affects SUPT16H (SPT16 homolog, facilitates chromatin remodeling subunit). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | GTTGGTCAGGCTGGTGTCGAACTCCCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTGTGGGCATGAGCCACCGCGCCCAGCCCTTTCATCACTATTTTATAGGAAAGAAGCTGAGTGAAATGAAGTGTCTTGCCCAAGAGCTGACAGCTAGTTAAGTAGAAAGGTATACCTTGAGGTGAAAGTGCAAGACAATAATCATTTCTCCATCACAGGGCTGGAACAAAGCATGCTTAATATTATTGTACAAAATATCCACTTTGTCTCCTCGAACAGATGTGAAGCGGAAGCCTGGGGAAAAGAATGA... | GTTGGTCAGGCTGGTGTCGAACTCCCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTGTGGGCATGAGCCACCGCGCCCAGCCCTTTCATCACTATTTTATAGGAAAGAAGCTGAGTGAAATGAAGTGTCTTGCCCAAGAGCTGACAGCTAGTTAAGTAGAAAGGTATACCTTGAGGTGAAAGTGCAAGACAATAATCATTTCTCCATCACAGGGCTGGAACAAAGCATGCTTAATATTATTGTACAAAATATCCACTTTGTCTCCTCGAACAGATGTGAAGCGGAAGCCTGGGGAAAAGAATGA... |
Task1_train_19468 | This is a variant in SUPT16H (SPT16 homolog, facilitates chromatin remodeling subunit), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | GCAACCTTCGCCTCCTGGGTTCAAGCCATCCTCCCACCTCAGCCTTCCAAGTACCTGGGATTACAGGTACACACCACCATGCCCGGCTAGTTTTTGTATTTTTAGCAGATACAGGGTTTTGCCATGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCATGTAATCTGCCTGCCTCTGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCATGCATGCCCATTCCTTCTTTTTTCATTTTTCAAATCTGGTATAACATCCCCAAATTATCCCATTTCACACCATGAAATCATAGAATCCAATGTGGCACCAGTTTTC... | GCAACCTTCGCCTCCTGGGTTCAAGCCATCCTCCCACCTCAGCCTTCCAAGTACCTGGGATTACAGGTACACACCACCATGCCCGGCTAGTTTTTGTATTTTTAGCAGATACAGGGTTTTGCCATGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCATGTAATCTGCCTGCCTCTGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCATGCATGCCCATTCCTTCTTTTTTCATTTTTCAAATCTGGTATAACATCCCCAAATTATCCCATTTCACACCATGAAATCATAGAATCCAATGTGGCACCAGTTTTC... |
Task1_train_19469 | A variant affecting Chromosome 14, within the gene CHD8 (chromodomain helicase DNA binding protein 8), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Intellectual developmental disorder with autism and macrocephaly | GTGCTGGGATTACAGGCATAAGCCACCATGCCCAGCACCTGCAATTTTATTTATCCCATTAAACGTCTCAAAAAAGATGTAGATTAAGTGCCATTACTTTTATTTTATAGAAAAAAAAGTATTCTTTTAAAAAAAAGACATTCTAATTCACAAAGTCACTTGGCTGAAAGTTAACGCTTACTGTTTTTAGTGCCTGGGATTTGGCATTAGGCAAAACTGCTATAAGAGTAAGGAAATATTCTTACCCCCACTGCATTTTTGTTTTGGCTAGTCAGTCTCCCTTCTTATACTCTACTTTTATTTCACTCAAAAACTGCTGC... | GTGCTGGGATTACAGGCATAAGCCACCATGCCCAGCACCTGCAATTTTATTTATCCCATTAAACGTCTCAAAAAAGATGTAGATTAAGTGCCATTACTTTTATTTTATAGAAAAAAAAGTATTCTTTTAAAAAAAAGACATTCTAATTCACAAAGTCACTTGGCTGAAAGTTAACGCTTACTGTTTTTAGTGCCTGGGATTTGGCATTAGGCAAAACTGCTATAAGAGTAAGGAAATATTCTTACCCCCACTGCATTTTTGTTTTGGCTAGTCAGTCTCCCTTCTTATACTCTACTTTTATTTCACTCAAAAACTGCTGC... |
Task1_train_19470 | The gene CHD8 (chromodomain helicase DNA binding protein 8) on Chromosome 14 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Intellectual developmental disorder with autism and macrocephaly | CATGTCTAGGTCAGCCTTTTTGGCCCACTTTTGCCAAAAGTTGGGGTCATCCAAAGAAATATCTGTCCTGTTTTCAGAAGCAACAAAGCTTGCCTAGAGAAAAACAAATGCAGAGGTAAAGCTGACTTTTTTTTTTAAGTGGTGCAAAATCAGCAATTATGTTTTAAAAACATTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGGGTACAGTGGCACGATCTCCGCTCACCGCAACCTCCACCCCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACGACAGGCGCAAGCCACCA... | CATGTCTAGGTCAGCCTTTTTGGCCCACTTTTGCCAAAAGTTGGGGTCATCCAAAGAAATATCTGTCCTGTTTTCAGAAGCAACAAAGCTTGCCTAGAGAAAAACAAATGCAGAGGTAAAGCTGACTTTTTTTTTTAAGTGGTGCAAAATCAGCAATTATGTTTTAAAAACATTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGGGTACAGTGGCACGATCTCCGCTCACCGCAACCTCCACCCCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACGACAGGCGCAAGCCACCA... |
Task1_train_19471 | The variant affects gene OXA1L (OXA1L mitochondrial inner membrane insertase), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Mitochondrial disease | AGGGAAGTCATGGATTCTTACTCAAAGTAACTTCTCTTCCTAACTATTGATAAAAATGAGATGTCCTTTTTAAGCTTGAAATCTGCAGACACTAGGCTAACCTGGAAGAACAAGAAGTAGAGAGAACAGAACCCAGTACTGGTTATTATAAAAAGATCTCACTTGCTTTGTGTTCGCTACTGAATAAATATAATACAAGGCTTTCTTTCACACAGGTTCAGGCCCCTCCTGTTGTTGCTGCAACTCCCTCACCCACAGCAGTACCTGAGGTGGCTTCTGGAGAGACTGCAGATGTAGTCCAAACTGCTGCAGAGCAGAGC... | AGGGAAGTCATGGATTCTTACTCAAAGTAACTTCTCTTCCTAACTATTGATAAAAATGAGATGTCCTTTTTAAGCTTGAAATCTGCAGACACTAGGCTAACCTGGAAGAACAAGAAGTAGAGAGAACAGAACCCAGTACTGGTTATTATAAAAAGATCTCACTTGCTTTGTGTTCGCTACTGAATAAATATAATACAAGGCTTTCTTTCACACAGGTTCAGGCCCCTCCTGTTGTTGCTGCAACTCCCTCACCCACAGCAGTACCTGAGGTGGCTTCTGGAGAGACTGCAGATGTAGTCCAAACTGCTGCAGAGCAGAGC... |
Task1_train_19472 | Located on Chromosome 14, this mutation impacts SLC7A7 (solute carrier family 7 member 7). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Lysinuric protein intolerance | TGCCTAGGCCAGGCTTCTGGACAGGTGCCTCCAAAGAAGTGAGCTTTCCTTTTCAACTTCCTTAGCTCTAGCCAGTAGACCAGAAACCCCTGCTTTCCACATCAGGATTCCAGATGGTGTTTAGTTAGATTTGGGATCCCGTTGCTTGGGCATCTCTCCTCCATCTTCCAAATCCATTTCTGCAGCAACTGACATACACAGGACCTGGAGGTACCTTGTGGCAGACCCTACAAAGAGAACTTTGAGTTGGAATTGAGAAGAGGTCAGCTGGGCTGAGTTCAAGTGTCACTGAATGGAACTCAGTGTGAGGGGAGTGATTC... | TGCCTAGGCCAGGCTTCTGGACAGGTGCCTCCAAAGAAGTGAGCTTTCCTTTTCAACTTCCTTAGCTCTAGCCAGTAGACCAGAAACCCCTGCTTTCCACATCAGGATTCCAGATGGTGTTTAGTTAGATTTGGGATCCCGTTGCTTGGGCATCTCTCCTCCATCTTCCAAATCCATTTCTGCAGCAACTGACATACACAGGACCTGGAGGTACCTTGTGGCAGACCCTACAAAGAGAACTTTGAGTTGGAATTGAGAAGAGGTCAGCTGGGCTGAGTTCAAGTGTCACTGAATGGAACTCAGTGTGAGGGGAGTGATTC... |
Task1_train_19473 | This mutation occurs in LOC130055324, SLC7A7 (ATAC-STARR-seq lymphoblastoid silent region 5590| solute carrier family 7 member 7) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Lysinuric protein intolerance | GTTGCAGGGTGGAAGGCATCTCTAAGGTCCTAGGCTCTCCCAGGTTGGAAGGGCATTTTTCAAGAATAGTGGCATCTGAGGGATGGGGCTATGGAGAATCATCATCTCAGCACCTCCAATGGCTTTACTGAATGTACAGATTTAAATAATGTTTTATTTATGAGATGGAGAAAAAGCCAAGGTGGACTGAAATGACAGTATTAAAAATCTAGCCCACAGAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCCAACACTTTGGGAAGCCAAGGCAGGTAGATCACTTGAGCTCAGGAGTTCGAGTCCAGCCTGGCCAACAC... | GTTGCAGGGTGGAAGGCATCTCTAAGGTCCTAGGCTCTCCCAGGTTGGAAGGGCATTTTTCAAGAATAGTGGCATCTGAGGGATGGGGCTATGGAGAATCATCATCTCAGCACCTCCAATGGCTTTACTGAATGTACAGATTTAAATAATGTTTTATTTATGAGATGGAGAAAAAGCCAAGGTGGACTGAAATGACAGTATTAAAAATCTAGCCCACAGAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCCAACACTTTGGGAAGCCAAGGCAGGTAGATCACTTGAGCTCAGGAGTTCGAGTCCAGCCTGGCCAACAC... |
Task1_train_19474 | Consider a variant on Chromosome 14 in gene LOC130055324, SLC7A7 (ATAC-STARR-seq lymphoblastoid silent region 5590| solute carrier family 7 member 7). Determine its clinical classification and disease relevance. | Pathogenic; Lysinuric protein intolerance | TGCAGGGTGGAAGGCATCTCTAAGGTCCTAGGCTCTCCCAGGTTGGAAGGGCATTTTTCAAGAATAGTGGCATCTGAGGGATGGGGCTATGGAGAATCATCATCTCAGCACCTCCAATGGCTTTACTGAATGTACAGATTTAAATAATGTTTTATTTATGAGATGGAGAAAAAGCCAAGGTGGACTGAAATGACAGTATTAAAAATCTAGCCCACAGAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCCAACACTTTGGGAAGCCAAGGCAGGTAGATCACTTGAGCTCAGGAGTTCGAGTCCAGCCTGGCCAACACAG... | TGCAGGGTGGAAGGCATCTCTAAGGTCCTAGGCTCTCCCAGGTTGGAAGGGCATTTTTCAAGAATAGTGGCATCTGAGGGATGGGGCTATGGAGAATCATCATCTCAGCACCTCCAATGGCTTTACTGAATGTACAGATTTAAATAATGTTTTATTTATGAGATGGAGAAAAAGCCAAGGTGGACTGAAATGACAGTATTAAAAATCTAGCCCACAGAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCCAACACTTTGGGAAGCCAAGGCAGGTAGATCACTTGAGCTCAGGAGTTCGAGTCCAGCCTGGCCAACACAG... |
Task1_train_19475 | This variant affects gene MMP14 (matrix metallopeptidase 14) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Winchester syndrome | ACCTGGGCGACAGGGCGAGACTCCGTCTCAAAAAAAAAAAAAAATTTACCTCCTTTGCAGGCCATAGGACTAGCCCAACTATGAGAAATAGCTGTTCTGTGAACGTGAAAAGGGGACAGCAGTTTTCCCAGTTTTGGCCAGGCAGTCAAGCCTTTAACAGCTCATGCACAGTTTAGGCCATGTACAGCTGGCATCTAATAAATGTTTTCATGAAAAAGATTTTCTAGCCAAGGTCCCTTTTTTGGCAAGCATCTGGTGTCAGTCTTCCTAAGATTCAGATATGTGGTCCAGGAGGTTACCCCCACTGGGAAGGCTGATGT... | ACCTGGGCGACAGGGCGAGACTCCGTCTCAAAAAAAAAAAAAAATTTACCTCCTTTGCAGGCCATAGGACTAGCCCAACTATGAGAAATAGCTGTTCTGTGAACGTGAAAAGGGGACAGCAGTTTTCCCAGTTTTGGCCAGGCAGTCAAGCCTTTAACAGCTCATGCACAGTTTAGGCCATGTACAGCTGGCATCTAATAAATGTTTTCATGAAAAAGATTTTCTAGCCAAGGTCCCTTTTTTGGCAAGCATCTGGTGTCAGTCTTCCTAAGATTCAGATATGTGGTCCAGGAGGTTACCCCCACTGGGAAGGCTGATGT... |
Task1_train_19476 | The gene CIROP (ciliated left-right organizer metallopeptidase) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Heterotaxy, visceral, 12, autosomal | CGAGGCCACAGTGAGCTGAGATCACCCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAAAGAAGAAGAAAAAGGTGGGGGGAGGGGACTAAGATCCCTATGTCCTAGAGATGGGGGAATGTGTTATTGTATGGGAGGAGGGAGTCAGGTAGTGACGGGACTGGATGATCGTGTTAGGGATCTTTGTTCTCTGAAACGCAACCCTGTCTAGGACAATATACACGTGAGTGAGTGCTTAATAAATTTAATTTCAAACATCCGGACTCCATGGATTTGAAAGGAAAGTACTTGGAATATCTTACTTGCT... | CGAGGCCACAGTGAGCTGAGATCACCCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAAAGAAGAAGAAAAAGGTGGGGGGAGGGGACTAAGATCCCTATGTCCTAGAGATGGGGGAATGTGTTATTGTATGGGAGGAGGGAGTCAGGTAGTGACGGGACTGGATGATCGTGTTAGGGATCTTTGTTCTCTGAAACGCAACCCTGTCTAGGACAATATACACGTGAGTGAGTGCTTAATAAATTTAATTTCAAACATCCGGACTCCATGGATTTGAAAGGAAAGTACTTGGAATATCTTACTTGCT... |
Task1_train_19477 | A genomic change on Chromosome 14 affects CIROP (ciliated left-right organizer metallopeptidase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Heterotaxy, visceral, 12, autosomal | CTGAGATCACCCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAAAGAAGAAGAAAAAGGTGGGGGGAGGGGACTAAGATCCCTATGTCCTAGAGATGGGGGAATGTGTTATTGTATGGGAGGAGGGAGTCAGGTAGTGACGGGACTGGATGATCGTGTTAGGGATCTTTGTTCTCTGAAACGCAACCCTGTCTAGGACAATATACACGTGAGTGAGTGCTTAATAAATTTAATTTCAAACATCCGGACTCCATGGATTTGAAAGGAAAGTACTTGGAATATCTTACTTGCTGGGTTGTGTGGTAAA... | CTGAGATCACCCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAAAGAAGAAGAAAAAGGTGGGGGGAGGGGACTAAGATCCCTATGTCCTAGAGATGGGGGAATGTGTTATTGTATGGGAGGAGGGAGTCAGGTAGTGACGGGACTGGATGATCGTGTTAGGGATCTTTGTTCTCTGAAACGCAACCCTGTCTAGGACAATATACACGTGAGTGAGTGCTTAATAAATTTAATTTCAAACATCCGGACTCCATGGATTTGAAAGGAAAGTACTTGGAATATCTTACTTGCTGGGTTGTGTGGTAAA... |
Task1_train_19478 | Consider this mutation in CIROP (ciliated left-right organizer metallopeptidase) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Heterotaxy, visceral, 12, autosomal | CCCTCTGCCCAATCAGCTCTTCCTAGAGTTTGAGGCACCTTCTATTCCATCCTCTGTGGGTTCTTTGACTTAATGGGAAACTGAGTAACCTGGCCCCCTACCCTGCAACCTGTTTGCTTCTCCCTATTCATCATGCAGCAGTCACCATGACGATGTCACTGTGGCTGAGGCTGGGGCTGGTGAGATGTTGGGCACAGTAGACAATGGTACCAGCGAGGGGCCTGTCTTCTGAGTCCAGCTGGCAGCAGGCAGCATAGGCTATGACAGAGGGCTGTGGATGGGCCAGGACAGGGTAGGGCCAGAAAGGAGAAAAATAGGGT... | CCCTCTGCCCAATCAGCTCTTCCTAGAGTTTGAGGCACCTTCTATTCCATCCTCTGTGGGTTCTTTGACTTAATGGGAAACTGAGTAACCTGGCCCCCTACCCTGCAACCTGTTTGCTTCTCCCTATTCATCATGCAGCAGTCACCATGACGATGTCACTGTGGCTGAGGCTGGGGCTGGTGAGATGTTGGGCACAGTAGACAATGGTACCAGCGAGGGGCCTGTCTTCTGAGTCCAGCTGGCAGCAGGCAGCATAGGCTATGACAGAGGGCTGTGGATGGGCCAGGACAGGGTAGGGCCAGAAAGGAGAAAAATAGGGT... |
Task1_train_19479 | Given this context: Chromosome 14, gene CIROP (ciliated left-right organizer metallopeptidase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; CIROP-related disorder | CCCTCTGCCCAATCAGCTCTTCCTAGAGTTTGAGGCACCTTCTATTCCATCCTCTGTGGGTTCTTTGACTTAATGGGAAACTGAGTAACCTGGCCCCCTACCCTGCAACCTGTTTGCTTCTCCCTATTCATCATGCAGCAGTCACCATGACGATGTCACTGTGGCTGAGGCTGGGGCTGGTGAGATGTTGGGCACAGTAGACAATGGTACCAGCGAGGGGCCTGTCTTCTGAGTCCAGCTGGCAGCAGGCAGCATAGGCTATGACAGAGGGCTGTGGATGGGCCAGGACAGGGTAGGGCCAGAAAGGAGAAAAATAGGGT... | CCCTCTGCCCAATCAGCTCTTCCTAGAGTTTGAGGCACCTTCTATTCCATCCTCTGTGGGTTCTTTGACTTAATGGGAAACTGAGTAACCTGGCCCCCTACCCTGCAACCTGTTTGCTTCTCCCTATTCATCATGCAGCAGTCACCATGACGATGTCACTGTGGCTGAGGCTGGGGCTGGTGAGATGTTGGGCACAGTAGACAATGGTACCAGCGAGGGGCCTGTCTTCTGAGTCCAGCTGGCAGCAGGCAGCATAGGCTATGACAGAGGGCTGTGGATGGGCCAGGACAGGGTAGGGCCAGAAAGGAGAAAAATAGGGT... |
Task1_train_19480 | Consider a variant on Chromosome 14 in gene CEBPE (CCAAT enhancer binding protein epsilon). Determine its clinical classification and disease relevance. | Pathogenic; Pelger-Huet-like anomaly and episodic fever with abdominal pain | CTCTCCCTCCAAACCAGACCTGGGGCACGGGCCTCCAGGACACAGAGGTGCCCGAGAGACACAGAGGCAAAGGCAGGAAAAGGACTGAGTCCTGGGCAAGGTAGACATGCCGCACACGGATGCCCGAGGTGTGGGAGGGCTCTACCGCTGGAGATTTGAAGAAGGGAGAGAGATCTGGGATGATCCAGACACCAGTCTCTCACCTTCTCAGAAAATTATTCCTTGATGTCTGACTCAGCCTTTCACAGCATTGGCTTAGGAGAGACTTTAAGAAGCCCGTAATCTGTCCCTGGGTCCCTGACACTGTTGGGCACTGTTCT... | CTCTCCCTCCAAACCAGACCTGGGGCACGGGCCTCCAGGACACAGAGGTGCCCGAGAGACACAGAGGCAAAGGCAGGAAAAGGACTGAGTCCTGGGCAAGGTAGACATGCCGCACACGGATGCCCGAGGTGTGGGAGGGCTCTACCGCTGGAGATTTGAAGAAGGGAGAGAGATCTGGGATGATCCAGACACCAGTCTCTCACCTTCTCAGAAAATTATTCCTTGATGTCTGACTCAGCCTTTCACAGCATTGGCTTAGGAGAGACTTTAAGAAGCCCGTAATCTGTCCCTGGGTCCCTGACACTGTTGGGCACTGTTCT... |
Task1_train_19481 | Given this variant in gene MYH6 (myosin heavy chain 6) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Dilated cardiomyopathy 1EE | TTTTCACCCTGCGTTCAGAGGGCTGAACTACCAGAGGAAGGGTTAGAGGAGAATAGAGCTCTATCATTTGTCTTAGAGTAGAAAGTCCCTGAGGCAGAGCAGATCTCAGAAGGAGAAGCCCTTTAGTAGGTATGAGTCCCCCTTCTCAAACAGTTTTGCTAACGTAATGTATTCTTGCTCTATGGGGGAAGGCTAGTGTTCCTGAGCGCCTGTAAGTCAGGGATGGTTGGGTCTATGAGGCTGCCTGGAGTTCCAGATATTGTGTAGAACCCTAAGCAGCTGCTGCAGCCTCAGTTACCTCAGGGCTATTGAGCTCCCAC... | TTTTCACCCTGCGTTCAGAGGGCTGAACTACCAGAGGAAGGGTTAGAGGAGAATAGAGCTCTATCATTTGTCTTAGAGTAGAAAGTCCCTGAGGCAGAGCAGATCTCAGAAGGAGAAGCCCTTTAGTAGGTATGAGTCCCCCTTCTCAAACAGTTTTGCTAACGTAATGTATTCTTGCTCTATGGGGGAAGGCTAGTGTTCCTGAGCGCCTGTAAGTCAGGGATGGTTGGGTCTATGAGGCTGCCTGGAGTTCCAGATATTGTGTAGAACCCTAAGCAGCTGCTGCAGCCTCAGTTACCTCAGGGCTATTGAGCTCCCAC... |
Task1_train_19482 | A variant affecting Chromosome 14, within the gene MYH6 (myosin heavy chain 6), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Atrial septal defect 3 | CCAGAGGAAGGGTTAGAGGAGAATAGAGCTCTATCATTTGTCTTAGAGTAGAAAGTCCCTGAGGCAGAGCAGATCTCAGAAGGAGAAGCCCTTTAGTAGGTATGAGTCCCCCTTCTCAAACAGTTTTGCTAACGTAATGTATTCTTGCTCTATGGGGGAAGGCTAGTGTTCCTGAGCGCCTGTAAGTCAGGGATGGTTGGGTCTATGAGGCTGCCTGGAGTTCCAGATATTGTGTAGAACCCTAAGCAGCTGCTGCAGCCTCAGTTACCTCAGGGCTATTGAGCTCCCACTTTCATGCACTGGGAAAAAAAGTCACCTGG... | CCAGAGGAAGGGTTAGAGGAGAATAGAGCTCTATCATTTGTCTTAGAGTAGAAAGTCCCTGAGGCAGAGCAGATCTCAGAAGGAGAAGCCCTTTAGTAGGTATGAGTCCCCCTTCTCAAACAGTTTTGCTAACGTAATGTATTCTTGCTCTATGGGGGAAGGCTAGTGTTCCTGAGCGCCTGTAAGTCAGGGATGGTTGGGTCTATGAGGCTGCCTGGAGTTCCAGATATTGTGTAGAACCCTAAGCAGCTGCTGCAGCCTCAGTTACCTCAGGGCTATTGAGCTCCCACTTTCATGCACTGGGAAAAAAAGTCACCTGG... |
Task1_train_19483 | This variant lies on Chromosome 14 and affects the gene MYH6 (myosin heavy chain 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Primary familial dilated cardiomyopathy | AATTCCCCACCTCAGTTCTGGTGAGTGCAGCTGGGGTTGAGGAGTTGGGATTGTGGTGGACTCTCTGTCTGCCCACGTCTCCCACGTCCCTGTCCCTCACCATCCCACAACACACCCCACTGCCCCACAAGCCTCAGAGTCTCTGGGATCTGAGTCCCGCAGAGAGCCTGGTCAGCACCTCAGGCCTTCCCAGGGCTGCCTGCCTGCCCCTCCCACCTTCGGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCTGCTTGAACTTCATGTTCCCGTAGTGCATGATGGCTCCCGTCAGCTTGTAGACGCCAGCTTTC... | AATTCCCCACCTCAGTTCTGGTGAGTGCAGCTGGGGTTGAGGAGTTGGGATTGTGGTGGACTCTCTGTCTGCCCACGTCTCCCACGTCCCTGTCCCTCACCATCCCACAACACACCCCACTGCCCCACAAGCCTCAGAGTCTCTGGGATCTGAGTCCCGCAGAGAGCCTGGTCAGCACCTCAGGCCTTCCCAGGGCTGCCTGCCTGCCCCTCCCACCTTCGGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCTGCTTGAACTTCATGTTCCCGTAGTGCATGATGGCTCCCGTCAGCTTGTAGACGCCAGCTTTC... |
Task1_train_19484 | The gene MYH7 (myosin heavy chain 7) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | GCCGACAGCCCCAGTGCCTTTCAAGCCCCTGACCTCTGTGGCCCACAGTCCCAGGCCTGCCTAAGCAACCCAGCTGTGGCAGGAACTCCAAAGGGGCTGAACTTGTTTAGTTGGAGGAGACTTACTCTTTCCTCCACCTCCTGGCCCTCTCGGGAGCCATCCCTTCCCTCCCTCTCCCCAGAGTCCTGTTCACACATAACCTTCCCCAGCCCCTCATCTGTCTGCCTCCCCTCAAGATGGCTTGCCATAAATGGGCCAGGAGAACCCCATCTTCCCACAAGCCCAGAGGACAAAGGGCTTGGTAATGGGAATTACAATGG... | GCCGACAGCCCCAGTGCCTTTCAAGCCCCTGACCTCTGTGGCCCACAGTCCCAGGCCTGCCTAAGCAACCCAGCTGTGGCAGGAACTCCAAAGGGGCTGAACTTGTTTAGTTGGAGGAGACTTACTCTTTCCTCCACCTCCTGGCCCTCTCGGGAGCCATCCCTTCCCTCCCTCTCCCCAGAGTCCTGTTCACACATAACCTTCCCCAGCCCCTCATCTGTCTGCCTCCCCTCAAGATGGCTTGCCATAAATGGGCCAGGAGAACCCCATCTTCCCACAAGCCCAGAGGACAAAGGGCTTGGTAATGGGAATTACAATGG... |
Task1_train_19485 | A variant has been detected on Chromosome 14 in MYH7 (myosin heavy chain 7). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Myosin storage myopathy | AGGCCTGCCTAAGCAACCCAGCTGTGGCAGGAACTCCAAAGGGGCTGAACTTGTTTAGTTGGAGGAGACTTACTCTTTCCTCCACCTCCTGGCCCTCTCGGGAGCCATCCCTTCCCTCCCTCTCCCCAGAGTCCTGTTCACACATAACCTTCCCCAGCCCCTCATCTGTCTGCCTCCCCTCAAGATGGCTTGCCATAAATGGGCCAGGAGAACCCCATCTTCCCACAAGCCCAGAGGACAAAGGGCTTGGTAATGGGAATTACAATGGGAAGAAATGAGTGGGAAGAAGGGAGCACCCTGGGCCAAGGGGGCTCGGCACC... | AGGCCTGCCTAAGCAACCCAGCTGTGGCAGGAACTCCAAAGGGGCTGAACTTGTTTAGTTGGAGGAGACTTACTCTTTCCTCCACCTCCTGGCCCTCTCGGGAGCCATCCCTTCCCTCCCTCTCCCCAGAGTCCTGTTCACACATAACCTTCCCCAGCCCCTCATCTGTCTGCCTCCCCTCAAGATGGCTTGCCATAAATGGGCCAGGAGAACCCCATCTTCCCACAAGCCCAGAGGACAAAGGGCTTGGTAATGGGAATTACAATGGGAAGAAATGAGTGGGAAGAAGGGAGCACCCTGGGCCAAGGGGGCTCGGCACC... |
Task1_train_19486 | A variant on Chromosome 14 in gene MYH7 (myosin heavy chain 7) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hypertrophic cardiomyopathy | CCCACAAGCCCAGAGGACAAAGGGCTTGGTAATGGGAATTACAATGGGAAGAAATGAGTGGGAAGAAGGGAGCACCCTGGGCCAAGGGGGCTCGGCACCAGGAGGAGCTGAGGAGGACGGCAGGTGGGCTGAGGGTGTGTTTCTCCCACCTGTGGTGGGCAGGGGGTATGCTGGCTTCTGGCGGTGGCTGGAGAGGGTGGTGGCTCTATTTAAAAGGGGATGCAGGCTACAGCTGTGAATCCTTGTGTACTCTCAGAGACTCGCCTGGGACTGGCACTTAGGCAGCCATTGCCTCACCTGGCCCAGTGGTTCACACTTCT... | CCCACAAGCCCAGAGGACAAAGGGCTTGGTAATGGGAATTACAATGGGAAGAAATGAGTGGGAAGAAGGGAGCACCCTGGGCCAAGGGGGCTCGGCACCAGGAGGAGCTGAGGAGGACGGCAGGTGGGCTGAGGGTGTGTTTCTCCCACCTGTGGTGGGCAGGGGGTATGCTGGCTTCTGGCGGTGGCTGGAGAGGGTGGTGGCTCTATTTAAAAGGGGATGCAGGCTACAGCTGTGAATCCTTGTGTACTCTCAGAGACTCGCCTGGGACTGGCACTTAGGCAGCCATTGCCTCACCTGGCCCAGTGGTTCACACTTCT... |
Task1_train_19487 | Consider this mutation in LOC126861897, MHRT, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654| myosin heavy chain associated RNA transcript| myosin heavy chain 7) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Hypertrophic cardiomyopathy | CCTTGAAATCACAGAGAACTGCATTACCTTGGCCTCTGGGGCCATGTGGCTCAAGTGTGTGGAATAAATGAAAAGGAAGCATCCCGGGTTTGAGGGTGCTCTGTCTGGGTATGCCTGCTGTGGGGGTGACTAGCAAAGCCCAAAAGAGGGACCCACCTTCGTGCCAATGTCACGGCTCTTGGCCCGCAGCTTGTTGACCTGGGACTCGGCGATGTCCGCCCGCTCCTCTGCCTCATCCAGCTCGTGCTGCACCTTGCGGAACTTGGACAGGTTGGTGTTGGCTTGCTCCTCCTGCGGGAGGTGGGAGCATGAGGTGAGAG... | CCTTGAAATCACAGAGAACTGCATTACCTTGGCCTCTGGGGCCATGTGGCTCAAGTGTGTGGAATAAATGAAAAGGAAGCATCCCGGGTTTGAGGGTGCTCTGTCTGGGTATGCCTGCTGTGGGGGTGACTAGCAAAGCCCAAAAGAGGGACCCACCTTCGTGCCAATGTCACGGCTCTTGGCCCGCAGCTTGTTGACCTGGGACTCGGCGATGTCCGCCCGCTCCTCTGCCTCATCCAGCTCGTGCTGCACCTTGCGGAACTTGGACAGGTTGGTGTTGGCTTGCTCCTCCTGCGGGAGGTGGGAGCATGAGGTGAGAG... |
Task1_train_19488 | This variant affects gene LOC126861897, MHRT, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654| myosin heavy chain associated RNA transcript| myosin heavy chain 7) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; MYH7-related skeletal myopathy | TCACCGCCTCCTCGGCCTGGCGCTTGTAGGCCTTGACCTTTAGCTGCAGCTTGTCTACCAGGTCCTGCAGCCGCAGCAGGTTTTTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAAT... | TCACCGCCTCCTCGGCCTGGCGCTTGTAGGCCTTGACCTTTAGCTGCAGCTTGTCTACCAGGTCCTGCAGCCGCAGCAGGTTTTTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAAT... |
Task1_train_19489 | This variant lies on Chromosome 14 and affects the gene LOC126861897, MHRT, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654| myosin heavy chain associated RNA transcript| myosin heavy chain 7). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; MYH7-related skeletal myopathy | TTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTG... | TTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTG... |
Task1_train_19490 | A variant found in Chromosome 14 affects LOC126861897, MHRT, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654| myosin heavy chain associated RNA transcript| myosin heavy chain 7). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; MYH7-related skeletal myopathy | AGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTG... | AGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTG... |
Task1_train_19491 | A variant on Chromosome 14 in gene LOC126861897, MHRT, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654| myosin heavy chain associated RNA transcript| myosin heavy chain 7) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hypertrophic cardiomyopathy | AGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTT... | AGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTT... |
Task1_train_19492 | Gene LOC126861897, MHRT, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654| myosin heavy chain associated RNA transcript| myosin heavy chain 7) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAAT... | TTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAAT... |
Task1_train_19493 | This alteration occurs within gene MHRT, MYH7 (myosin heavy chain associated RNA transcript| myosin heavy chain 7) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; Hypertrophic cardiomyopathy | TTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACT... | TTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACT... |
Task1_train_19494 | Mutation context: Chromosome 14, Gene MHRT, MYH7 (myosin heavy chain associated RNA transcript| myosin heavy chain 7). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; MYH7-related skeletal myopathy | TTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTG... | TTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTG... |
Task1_train_19495 | Here is a mutation in MHRT, MYH7 (myosin heavy chain associated RNA transcript| myosin heavy chain 7) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hypertrophic cardiomyopathy | GCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCC... | GCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCC... |
Task1_train_19496 | Consider a variant on Chromosome 14 in gene MYH7 (myosin heavy chain 7). Determine its clinical classification and disease relevance. | Pathogenic; Hypertrophic cardiomyopathy | CCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCT... | CCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCT... |
Task1_train_19497 | The variant affects gene MYH7 (myosin heavy chain 7), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hypertrophic cardiomyopathy | CTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAG... | CTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAG... |
Task1_train_19498 | A variant has been detected on Chromosome 14 in MYH7 (myosin heavy chain 7). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hypertrophic cardiomyopathy | GATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGA... | GATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGA... |
Task1_train_19499 | This variant affects gene MYH7 (myosin heavy chain 7) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Hypertrophic cardiomyopathy | GCTCCTCGATGCGTGCCTGGTCAGACACAAAGGGCTCAGACCCACCGCCTGGACCCCTCCACTGGAATCCCCCCGGCTCTAAAAGGCTCTCGGCTTCTCTGGAACAGCAAGTCAGTTTAGCTCTTCCAGTGGAGAGGTGGGAATTAAAGGATTTGGGGAAGATAGTTTGAAGAGCCTTCCTTTAGGCGAGGGCCTGACAGTCTACATGCTCTTTATTGGAAGGAAAGTGGTTGAAACTTGCTCTTAAAGATGGACAAAGAGACCTGTGTTCTGGGGATATTTTAAGCAGTTTAGTCATAAAAAAATAACAAAAGTTGAAA... | GCTCCTCGATGCGTGCCTGGTCAGACACAAAGGGCTCAGACCCACCGCCTGGACCCCTCCACTGGAATCCCCCCGGCTCTAAAAGGCTCTCGGCTTCTCTGGAACAGCAAGTCAGTTTAGCTCTTCCAGTGGAGAGGTGGGAATTAAAGGATTTGGGGAAGATAGTTTGAAGAGCCTTCCTTTAGGCGAGGGCCTGACAGTCTACATGCTCTTTATTGGAAGGAAAGTGGTTGAAACTTGCTCTTAAAGATGGACAAAGAGACCTGTGTTCTGGGGATATTTTAAGCAGTTTAGTCATAAAAAAATAACAAAAGTTGAAA... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.