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_12000 | A variant on Chromosome 7 in gene MET (MET proto-oncogene, receptor tyrosine kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Pediatric hepatocellular carcinoma | CTATAATACTAATCCTATTTTTAATGGTAACATTTTTATTTCATTTCAGCTTATTAGAATATAGAGAACTTATTTTATTATAGTTCTTCATGTGGGTTAACTTTATTTTCATATTTTAAAATACTATGTCATCCTTTAAAAAAATTTATTTGATGAGGCCGATGTTACTCACCTTTTCAGTGGTTCCACTGTGGTTGAATATTTTATTAGGTTAGGCTTTAATATGAGTCATATCATCTACAACTTATTCATGAATTAAATAATCACATTGCTTATATCCTTGGGTGAAATGTGTTGCATCTACATATATATTTACAAAC... | CTATAATACTAATCCTATTTTTAATGGTAACATTTTTATTTCATTTCAGCTTATTAGAATATAGAGAACTTATTTTATTATAGTTCTTCATGTGGGTTAACTTTATTTTCATATTTTAAAATACTATGTCATCCTTTAAAAAAATTTATTTGATGAGGCCGATGTTACTCACCTTTTCAGTGGTTCCACTGTGGTTGAATATTTTATTAGGTTAGGCTTTAATATGAGTCATATCATCTACAACTTATTCATGAATTAAATAATCACATTGCTTATATCCTTGGGTGAAATGTGTTGCATCTACATATATATTTACAAAC... |
Task1_train_12001 | This gene mutation involves MET (MET proto-oncogene, receptor tyrosine kinase) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Papillary renal cell carcinoma type 1 | CACACACCCTCATCCCATTAGAATGGAAGCTCATGAGGGTAGGATTTTTGTGTATTTTGTTCACTGCTGTGGCTCCAACACCTAAAACAGTGTTTAGCACATAGACTCGCAGTAAATAATTGTTGAATGAATCAGCTAAGGGTTACAAAAAAAGGTTCTTAGCCTCTTGCAAGTGGTAGATTTTTTTCTTGACATTTATGCCAGGACCTAAAAGTCACCAGGCCAGGACCAGGGAGGGTGGGAATAAGAATCTCAAGAACTGAATTCATAGAAGGCCTCAAGCTCCGTCTCGGTTCCTGCTCTCCAAGTCTCTGTGGGAG... | CACACACCCTCATCCCATTAGAATGGAAGCTCATGAGGGTAGGATTTTTGTGTATTTTGTTCACTGCTGTGGCTCCAACACCTAAAACAGTGTTTAGCACATAGACTCGCAGTAAATAATTGTTGAATGAATCAGCTAAGGGTTACAAAAAAAGGTTCTTAGCCTCTTGCAAGTGGTAGATTTTTTTCTTGACATTTATGCCAGGACCTAAAAGTCACCAGGCCAGGACCAGGGAGGGTGGGAATAAGAATCTCAAGAACTGAATTCATAGAAGGCCTCAAGCTCCGTCTCGGTTCCTGCTCTCCAAGTCTCTGTGGGAG... |
Task1_train_12002 | Here is a variant affecting MET (MET proto-oncogene, receptor tyrosine kinase) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Papillary renal cell carcinoma type 1 | AATGGAAGCTCATGAGGGTAGGATTTTTGTGTATTTTGTTCACTGCTGTGGCTCCAACACCTAAAACAGTGTTTAGCACATAGACTCGCAGTAAATAATTGTTGAATGAATCAGCTAAGGGTTACAAAAAAAGGTTCTTAGCCTCTTGCAAGTGGTAGATTTTTTTCTTGACATTTATGCCAGGACCTAAAAGTCACCAGGCCAGGACCAGGGAGGGTGGGAATAAGAATCTCAAGAACTGAATTCATAGAAGGCCTCAAGCTCCGTCTCGGTTCCTGCTCTCCAAGTCTCTGTGGGAGGTAATGAAGTTGATCAAAAGC... | AATGGAAGCTCATGAGGGTAGGATTTTTGTGTATTTTGTTCACTGCTGTGGCTCCAACACCTAAAACAGTGTTTAGCACATAGACTCGCAGTAAATAATTGTTGAATGAATCAGCTAAGGGTTACAAAAAAAGGTTCTTAGCCTCTTGCAAGTGGTAGATTTTTTTCTTGACATTTATGCCAGGACCTAAAAGTCACCAGGCCAGGACCAGGGAGGGTGGGAATAAGAATCTCAAGAACTGAATTCATAGAAGGCCTCAAGCTCCGTCTCGGTTCCTGCTCTCCAAGTCTCTGTGGGAGGTAATGAAGTTGATCAAAAGC... |
Task1_train_12003 | A mutation on Chromosome 7 affecting MET (MET proto-oncogene, receptor tyrosine kinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pediatric hepatocellular carcinoma | TCTCCTGTTCTGTTGGCCTCATCATACCTGGAAAATAATAAAACTACATTTTAAAACACCTCCATTTTCCCATCTGGAAAATGGAGCCTGTAACACCTGCCTGACAGAAGTGTAGAAGTAGCTGTAATTTATGAAAACAATTAGCCTGGTGTGTTGCATACAATAAATACTTAACAAATGGTTGATCTGTCAATGGGGCACACTTTTTGTTGTTGTTGTTTTGTTTTTTGTTTTTGGAGACAAGGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAGTCATAGTGCACTGCAGTATCCAACTCCTGGGCTCAAGCAAT... | TCTCCTGTTCTGTTGGCCTCATCATACCTGGAAAATAATAAAACTACATTTTAAAACACCTCCATTTTCCCATCTGGAAAATGGAGCCTGTAACACCTGCCTGACAGAAGTGTAGAAGTAGCTGTAATTTATGAAAACAATTAGCCTGGTGTGTTGCATACAATAAATACTTAACAAATGGTTGATCTGTCAATGGGGCACACTTTTTGTTGTTGTTGTTTTGTTTTTTGTTTTTGGAGACAAGGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAGTCATAGTGCACTGCAGTATCCAACTCCTGGGCTCAAGCAAT... |
Task1_train_12004 | This genomic variant is located on Chromosome 7, within the CFTR (CF transmembrane conductance regulator) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cystic fibrosis | AGTAAGAACTCAAGTAACTGTTTCACTCTTTCCAGAAGGAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTT... | AGTAAGAACTCAAGTAACTGTTTCACTCTTTCCAGAAGGAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTT... |
Task1_train_12005 | The following genetic variant occurs in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cystic fibrosis | GTAAGAACTCAAGTAACTGTTTCACTCTTTCCAGAAGGAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTT... | GTAAGAACTCAAGTAACTGTTTCACTCTTTCCAGAAGGAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTT... |
Task1_train_12006 | Consider this mutation in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Cystic fibrosis | GTAAGAACTCAAGTAACTGTTTCACTCTTTCCAGAAGGAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTT... | GTAAGAACTCAAGTAACTGTTTCACTCTTTCCAGAAGGAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTT... |
Task1_train_12007 | With a mutation on Chromosome 7 in gene CFTR (CF transmembrane conductance regulator), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cystic fibrosis | TAAGAACTCAAGTAACTGTTTCACTCTTTCCAGAAGGAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTG... | TAAGAACTCAAGTAACTGTTTCACTCTTTCCAGAAGGAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTG... |
Task1_train_12008 | Here’s a variant in CFTR (CF transmembrane conductance regulator) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cystic fibrosis | GGAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATT... | GGAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATT... |
Task1_train_12009 | A variant was discovered on Chromosome 7, affecting CFTR (CF transmembrane conductance regulator). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cystic fibrosis | TGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATTTCAAAC... | TGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATTTCAAAC... |
Task1_train_12010 | Located on Chromosome 7, this mutation impacts CFTR (CF transmembrane conductance regulator). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Cystic fibrosis | TGGTAAAAGAATGAATGAAGTCAAAAGAATGTGGAAAGACCTAGGCTTTGCCATTTAGTAAAGTTTAGCATCTCTAAGCCTCCATCTCTTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCC... | TGGTAAAAGAATGAATGAAGTCAAAAGAATGTGGAAAGACCTAGGCTTTGCCATTTAGTAAAGTTTAGCATCTCTAAGCCTCCATCTCTTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCC... |
Task1_train_12011 | This variant impacts the gene CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cystic fibrosis | ATTTAGTAAAGTTTAGCATCTCTAAGCCTCCATCTCTTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCCTAATTGCCACCTGTATGTTCGACTTTCCTTCTGTTCTTTATGTTAGATACTG... | ATTTAGTAAAGTTTAGCATCTCTAAGCCTCCATCTCTTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCCTAATTGCCACCTGTATGTTCGACTTTCCTTCTGTTCTTTATGTTAGATACTG... |
Task1_train_12012 | This genomic variant is located on Chromosome 7, within the CFTR (CF transmembrane conductance regulator) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cystic fibrosis | TAAAGTTTAGCATCTCTAAGCCTCCATCTCTTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCCTAATTGCCACCTGTATGTTCGACTTTCCTTCTGTTCTTTATGTTAGATACTGGGATAG... | TAAAGTTTAGCATCTCTAAGCCTCCATCTCTTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCCTAATTGCCACCTGTATGTTCGACTTTCCTTCTGTTCTTTATGTTAGATACTGGGATAG... |
Task1_train_12013 | A mutation on Chromosome 7 affecting CFTR (CF transmembrane conductance regulator) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cystic fibrosis | ATCTCTAAGCCTCCATCTCTTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCCTAATTGCCACCTGTATGTTCGACTTTCCTTCTGTTCTTTATGTTAGATACTGGGATAGTATGCACCAGG... | ATCTCTAAGCCTCCATCTCTTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCCTAATTGCCACCTGTATGTTCGACTTTCCTTCTGTTCTTTATGTTAGATACTGGGATAGTATGCACCAGG... |
Task1_train_12014 | Consider a variant on Chromosome 7 in gene CFTR, LOC113664106 (CF transmembrane conductance regulator| CFTR intron 2 DNase I hypersensitive site). Determine its clinical classification and disease relevance. | Pathogenic; Cystic fibrosis | CCAGATGGTTGAAGAACATTAACCTATCTGGCTCAATTTTGTGACCATGGATTGAATCCTCTACATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCT... | CCAGATGGTTGAAGAACATTAACCTATCTGGCTCAATTTTGTGACCATGGATTGAATCCTCTACATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCT... |
Task1_train_12015 | Given this context: Chromosome 7, gene LOC113664106, CFTR (CFTR intron 2 DNase I hypersensitive site| CF transmembrane conductance regulator) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Cystic fibrosis | TGAAGAACATTAACCTATCTGGCTCAATTTTGTGACCATGGATTGAATCCTCTACATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTC... | TGAAGAACATTAACCTATCTGGCTCAATTTTGTGACCATGGATTGAATCCTCTACATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTC... |
Task1_train_12016 | A variant was discovered in gene CFTR (CF transmembrane conductance regulator), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cystic fibrosis | CACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTCTCTCTACTTCACTTTCATTTACATCTCAGCTCCTGAAGTATGGTTTCCACCATGTTCCTAAAACTACATTGCCCAG... | CACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTCTCTCTACTTCACTTTCATTTACATCTCAGCTCCTGAAGTATGGTTTCCACCATGTTCCTAAAACTACATTGCCCAG... |
Task1_train_12017 | This alteration occurs within gene CFTR (CF transmembrane conductance regulator) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Cystic fibrosis | CACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTCTCTCTACTTCACTTTCATTTACATCTCAGCTCCTGAAGTATGGTTTCCACCATGTTCCTAAAACTACATTGCCCAG... | CACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTCTCTCTACTTCACTTTCATTTACATCTCAGCTCCTGAAGTATGGTTTCCACCATGTTCCTAAAACTACATTGCCCAG... |
Task1_train_12018 | Located on Chromosome 7, this mutation impacts CFTR (CF transmembrane conductance regulator). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Cystic fibrosis | TGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTCTCTCTACTTCACTTTCATTTACATCTCAGCTCCTGAAGTATGGTTTCCACCATGTTCCTAAAACTACATTGCCCAGGGTCACTAGAGACCTCT... | TGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTCTCTCTACTTCACTTTCATTTACATCTCAGCTCCTGAAGTATGGTTTCCACCATGTTCCTAAAACTACATTGCCCAGGGTCACTAGAGACCTCT... |
Task1_train_12019 | Located on Chromosome 7, this mutation impacts CFTR (CF transmembrane conductance regulator). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Cystic fibrosis | AAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATG... | AAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATG... |
Task1_train_12020 | The gene CFTR (CF transmembrane conductance regulator) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cystic fibrosis | GTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAA... | GTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAA... |
Task1_train_12021 | The following genetic variant occurs in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; CFTR-related disorder | CTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAA... | CTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAA... |
Task1_train_12022 | A mutation in CFTR (CF transmembrane conductance regulator), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cystic fibrosis | CTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAA... | CTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAA... |
Task1_train_12023 | Here is a mutation in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cystic fibrosis | CTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAA... | CTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAA... |
Task1_train_12024 | Here is a mutation in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cystic fibrosis | ATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGT... | ATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGT... |
Task1_train_12025 | A variant was discovered on Chromosome 7, affecting CFTR (CF transmembrane conductance regulator). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Congenital bilateral aplasia of vas deferens from CFTR mutation | AATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCT... | AATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCT... |
Task1_train_12026 | Here is a mutation in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Bronchiectasis with or without elevated sweat chloride 1 | AATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCT... | AATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCT... |
Task1_train_12027 | A change on Chromosome 7 affects gene CFTR (CF transmembrane conductance regulator). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hereditary pancreatitis | AATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCT... | AATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCT... |
Task1_train_12028 | Consider this mutation in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Cystic fibrosis | AATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCT... | AATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCT... |
Task1_train_12029 | The gene CFTR (CF transmembrane conductance regulator), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cystic fibrosis | AATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCT... | AATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCT... |
Task1_train_12030 | Gene CFTR (CF transmembrane conductance regulator) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Bronchiectasis with or without elevated sweat chloride 1 | TTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACAT... | TTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACAT... |
Task1_train_12031 | Here is a genetic alteration in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cystic fibrosis | TTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACAT... | TTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACAT... |
Task1_train_12032 | This genomic variant is located on Chromosome 7, within the CFTR (CF transmembrane conductance regulator) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cystic fibrosis | GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATC... | GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATC... |
Task1_train_12033 | Gene CFTR (CF transmembrane conductance regulator) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cystic fibrosis | ACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTC... | ACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTC... |
Task1_train_12034 | A change on Chromosome 7 affects gene CFTR (CF transmembrane conductance regulator). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cystic fibrosis | ACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTC... | ACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTC... |
Task1_train_12035 | This sequence change occurs on Chromosome 7, altering CFTR (CF transmembrane conductance regulator). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cystic fibrosis | GTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAA... | GTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAA... |
Task1_train_12036 | A variant on Chromosome 7 in gene CFTR (CF transmembrane conductance regulator) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Cystic fibrosis | TGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAA... | TGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAA... |
Task1_train_12037 | Given this context: Chromosome 7, gene CFTR (CF transmembrane conductance regulator) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; CFTR-related disorder | TACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGA... | TACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGA... |
Task1_train_12038 | This genomic variant is located on Chromosome 7, within the CFTR (CF transmembrane conductance regulator) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cystic fibrosis | TACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGA... | TACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGA... |
Task1_train_12039 | Gene CFTR (CF transmembrane conductance regulator) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Congenital bilateral aplasia of vas deferens from CFTR mutation | ACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGG... | ACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGG... |
Task1_train_12040 | Gene CFTR (CF transmembrane conductance regulator), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Bronchiectasis with or without elevated sweat chloride 1 | ACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGG... | ACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGG... |
Task1_train_12041 | Here is a genetic alteration in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary pancreatitis | ACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGG... | ACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGG... |
Task1_train_12042 | This sequence variant lies in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cystic fibrosis | ACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGG... | ACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGG... |
Task1_train_12043 | This gene mutation involves CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cystic fibrosis | ACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGG... | ACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGG... |
Task1_train_12044 | A variant was discovered on Chromosome 7, affecting CFTR (CF transmembrane conductance regulator). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cystic fibrosis | CATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGG... | CATGCACACGTATGTTTATTGCGGCACTATTCACAATAGGAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATACAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGG... |
Task1_train_12045 | This alteration in CFTR (CF transmembrane conductance regulator) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cystic fibrosis | GGAATGTGGAATCTACACAGTTGGCATATCAGAGAAGGTTGAATTCAGTTTAATAAATGTTTATAGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTG... | GGAATGTGGAATCTACACAGTTGGCATATCAGAGAAGGTTGAATTCAGTTTAATAAATGTTTATAGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTG... |
Task1_train_12046 | With a mutation on Chromosome 7 in gene CFTR (CF transmembrane conductance regulator), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary pancreatitis | TTGAATTCAGTTTAATAAATGTTTATAGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGTCAGACTGTAATGCGGGAAGAGACAGG... | TTGAATTCAGTTTAATAAATGTTTATAGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGTCAGACTGTAATGCGGGAAGAGACAGG... |
Task1_train_12047 | The gene CFTR (CF transmembrane conductance regulator) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cystic fibrosis | TATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGTCAGACTGTAATGCGGGAAGAGACAGGCATGGGCTAAACGGGTGTAGAGATCAAATAAGGGGCAGG... | TATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGTCAGACTGTAATGCGGGAAGAGACAGGCATGGGCTAAACGGGTGTAGAGATCAAATAAGGGGCAGG... |
Task1_train_12048 | This gene mutation involves CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cystic fibrosis | ATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGTCAGACTGTAATGCGGGAAGAGACAGGCATGGGCTAAACGGGTGTAGAGATCAAATAAGGGGCAGGTTAG... | ATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGTCAGACTGTAATGCGGGAAGAGACAGGCATGGGCTAAACGGGTGTAGAGATCAAATAAGGGGCAGGTTAG... |
Task1_train_12049 | A sequence alteration has been identified in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Cystic fibrosis | CAATTTAGCTCAGTGGATTTCCCCCACTTCATATTGCTCTGATAATGTTTTGGAATTAACTGCCTTGATTCCTTCTTTTCTCTGCTTGTCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGAT... | CAATTTAGCTCAGTGGATTTCCCCCACTTCATATTGCTCTGATAATGTTTTGGAATTAACTGCCTTGATTCCTTCTTTTCTCTGCTTGTCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGAT... |
Task1_train_12050 | A genomic change on Chromosome 7 affects CFTR (CF transmembrane conductance regulator). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cystic fibrosis | GATTTCCCCCACTTCATATTGCTCTGATAATGTTTTGGAATTAACTGCCTTGATTCCTTCTTTTCTCTGCTTGTCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAAT... | GATTTCCCCCACTTCATATTGCTCTGATAATGTTTTGGAATTAACTGCCTTGATTCCTTCTTTTCTCTGCTTGTCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAAT... |
Task1_train_12051 | This variant lies on Chromosome 7 and affects the gene CFTR (CF transmembrane conductance regulator). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cystic fibrosis | ATTTCCCCCACTTCATATTGCTCTGATAATGTTTTGGAATTAACTGCCTTGATTCCTTCTTTTCTCTGCTTGTCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATG... | ATTTCCCCCACTTCATATTGCTCTGATAATGTTTTGGAATTAACTGCCTTGATTCCTTCTTTTCTCTGCTTGTCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATG... |
Task1_train_12052 | The gene CFTR (CF transmembrane conductance regulator) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Cystic fibrosis | TTGCTCTGATAATGTTTTGGAATTAACTGCCTTGATTCCTTCTTTTCTCTGCTTGTCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAG... | TTGCTCTGATAATGTTTTGGAATTAACTGCCTTGATTCCTTCTTTTCTCTGCTTGTCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAG... |
Task1_train_12053 | This alteration occurs within gene CFTR (CF transmembrane conductance regulator) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Cystic fibrosis | TTGCTCTGATAATGTTTTGGAATTAACTGCCTTGATTCCTTCTTTTCTCTGCTTGTCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAG... | TTGCTCTGATAATGTTTTGGAATTAACTGCCTTGATTCCTTCTTTTCTCTGCTTGTCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAG... |
Task1_train_12054 | This variant lies on Chromosome 7 and affects the gene CFTR (CF transmembrane conductance regulator). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not specified | TCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAGGGATTCACTTGAAACTAATATTAGATAATTCCCAGTCAAAGTGATCTAATAGCAA... | TCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAGGGATTCACTTGAAACTAATATTAGATAATTCCCAGTCAAAGTGATCTAATAGCAA... |
Task1_train_12055 | The gene CFTR (CF transmembrane conductance regulator) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cystic fibrosis | TCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAGGGATTCACTTGAAACTAATATTAGATAATTCCCAGTCAAAGTGATCTAATAGCAA... | TCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAGGGATTCACTTGAAACTAATATTAGATAATTCCCAGTCAAAGTGATCTAATAGCAA... |
Task1_train_12056 | Here’s a variant in CFTR (CF transmembrane conductance regulator) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cystic fibrosis | TTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAGGGATTCACTTGAAACTAATATTAGATAATTCCCAGTCAAAGTGATCTAATAGCAAATCAATTCTTCA... | TTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAGGGATTCACTTGAAACTAATATTAGATAATTCCCAGTCAAAGTGATCTAATAGCAAATCAATTCTTCA... |
Task1_train_12057 | A mutation found in CFTR (CF transmembrane conductance regulator) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cystic fibrosis | ATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAGGGATTCACTTGAAACTAATATTAGATAATTCCCAGTCAAAGTGATCTAATAGCAAATCAATTCTTCAGTTTTATAGGCAAAG... | ATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAGGGATTCACTTGAAACTAATATTAGATAATTCCCAGTCAAAGTGATCTAATAGCAAATCAATTCTTCAGTTTTATAGGCAAAG... |
Task1_train_12058 | Mutation context: Chromosome 7, Gene CFTR (CF transmembrane conductance regulator). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cystic fibrosis | GGCATGAAATTGTCACTCGAAAAGGCTAGAAGTGTTGACATAAATATGGGACAGCAAGAGTTGCTCCTACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAA... | GGCATGAAATTGTCACTCGAAAAGGCTAGAAGTGTTGACATAAATATGGGACAGCAAGAGTTGCTCCTACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAA... |
Task1_train_12059 | This alteration in CFTR (CF transmembrane conductance regulator) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cystic fibrosis | TACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAAT... | TACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAAT... |
Task1_train_12060 | This is a variant in CFTR (CF transmembrane conductance regulator), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Cystic fibrosis | ACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATA... | ACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATA... |
Task1_train_12061 | Given this variant in gene CFTR (CF transmembrane conductance regulator) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cystic fibrosis | GAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTC... | GAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTC... |
Task1_train_12062 | Given this context: Chromosome 7, gene CFTR (CF transmembrane conductance regulator) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Cystic fibrosis | AAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAAC... | AAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAAC... |
Task1_train_12063 | A variant affecting Chromosome 7, within the gene CFTR (CF transmembrane conductance regulator), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cystic fibrosis | TGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAAC... | TGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAAC... |
Task1_train_12064 | A change on Chromosome 7 affects gene CFTR (CF transmembrane conductance regulator). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cystic fibrosis | GGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAACAAATTTAACATTTTTA... | GGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAACAAATTTAACATTTTTA... |
Task1_train_12065 | A variant was discovered on Chromosome 7, affecting CFTR (CF transmembrane conductance regulator). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cystic fibrosis | AGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAACAAATTTAACATTTTTATAA... | AGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAACAAATTTAACATTTTTATAA... |
Task1_train_12066 | Here is a genetic alteration in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cystic fibrosis | AGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAACAAATTTAACATTTTTATAA... | AGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAACAAATTTAACATTTTTATAA... |
Task1_train_12067 | Gene CFTR (CF transmembrane conductance regulator), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cystic fibrosis | AAAATAACATCCTGAATTTTATTGTTATTGTTTTTTATAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATACAGGTAATGTACCATAATGCTGCATTATATACTATG... | AAAATAACATCCTGAATTTTATTGTTATTGTTTTTTATAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATACAGGTAATGTACCATAATGCTGCATTATATACTATG... |
Task1_train_12068 | Given this context: Chromosome 7, gene CFTR, CFTR-AS1 (CF transmembrane conductance regulator| CFTR antisense RNA 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Congenital bilateral aplasia of vas deferens from CFTR mutation | CTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAG... | CTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAG... |
Task1_train_12069 | The gene CFTR, CFTR-AS1 (CF transmembrane conductance regulator| CFTR antisense RNA 1) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Bronchiectasis with or without elevated sweat chloride 1 | CTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAG... | CTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAG... |
Task1_train_12070 | Located on Chromosome 7, this mutation impacts CFTR, CFTR-AS1 (CF transmembrane conductance regulator| CFTR antisense RNA 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hereditary pancreatitis | CTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAG... | CTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAG... |
Task1_train_12071 | This genomic variant is located on Chromosome 7, within the CFTR, CFTR-AS1 (CF transmembrane conductance regulator| CFTR antisense RNA 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cystic fibrosis | CTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAG... | CTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAG... |
Task1_train_12072 | A mutation in CFTR, CFTR-AS1 (CF transmembrane conductance regulator| CFTR antisense RNA 1), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cystic fibrosis | CTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAG... | CTCACAACTTTTAGGTTAATAGCCTTTGTCACCTTGCCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAG... |
Task1_train_12073 | This mutation occurs in CFTR-AS1, CFTR (CFTR antisense RNA 1| CF transmembrane conductance regulator) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cystic fibrosis | CCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGTTTGAAGTAGTTTCTAACACAGAGATTATACT... | CCATATACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGTTTGAAGTAGTTTCTAACACAGAGATTATACT... |
Task1_train_12074 | The gene CFTR, CFTR-AS1 (CF transmembrane conductance regulator| CFTR antisense RNA 1) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cystic fibrosis | ACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGTTTGAAGTAGTTTCTAACACAGAGATTATACTCAATAA... | ACATCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGTTTGAAGTAGTTTCTAACACAGAGATTATACTCAATAA... |
Task1_train_12075 | This genomic variant is located on Chromosome 7, within the CFTR, CFTR-AS1 (CF transmembrane conductance regulator| CFTR antisense RNA 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cystic fibrosis | TCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGTTTGAAGTAGTTTCTAACACAGAGATTATACTCAATAAATA... | TCTGATCCAGCCACTCACACCATTCCTGAGATATATTTTGTTCCTTTGTGCCTAAATCATTGTGCATGCAGATCCATCTTCCTGGAACACCTATAACCATTTCTTAGTCCTGTGAAATCCTACTTACATCCTTCATAGCCTAGCATGTATGTCATTTATTTGGTCAAGGGTGAGTTGGTTGTTCTCTTGAATGTACTGCCATATGACGTGGTGTGATTTCAATTGTAGCACCAAGCTCATTGCAATATTAATTCGTTTGTCATTCTCCCATGTAGGATGTTTGAAGTAGTTTCTAACACAGAGATTATACTCAATAAATA... |
Task1_train_12076 | The gene CFTR, CFTR-AS1 (CF transmembrane conductance regulator| CFTR antisense RNA 1) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Cystic fibrosis | TTTAGGTCTTCTACATCTTCACTTATCTTTTTTCTACTTGCTTTGCCATTAACAGATAAAGTTGAATTAAAGGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTG... | TTTAGGTCTTCTACATCTTCACTTATCTTTTTTCTACTTGCTTTGCCATTAACAGATAAAGTTGAATTAAAGGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTG... |
Task1_train_12077 | Gene CFTR, CFTR-AS1 (CF transmembrane conductance regulator| CFTR antisense RNA 1), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cystic fibrosis | ACTTATCTTTTTTCTACTTGCTTTGCCATTAACAGATAAAGTTGAATTAAAGGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTA... | ACTTATCTTTTTTCTACTTGCTTTGCCATTAACAGATAAAGTTGAATTAAAGGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTA... |
Task1_train_12078 | Mutation context: Chromosome 7, Gene CFTR-AS1, CFTR (CFTR antisense RNA 1| CF transmembrane conductance regulator). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cystic fibrosis | GGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCT... | GGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCT... |
Task1_train_12079 | The variant affects gene CFTR-AS1, CFTR (CFTR antisense RNA 1| CF transmembrane conductance regulator), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; CFTR-related disorder | GGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCT... | GGCTTCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCT... |
Task1_train_12080 | This variant affects gene CFTR, CFTR-AS1 (CF transmembrane conductance regulator| CFTR antisense RNA 1) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; Cystic fibrosis | TCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAAT... | TCTACTACATACATTTCTCCCTGTTATTCCTTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAAT... |
Task1_train_12081 | A genetic alteration is present in CFTR, CFTR-AS1 (CF transmembrane conductance regulator| CFTR antisense RNA 1) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cystic fibrosis | TTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAAC... | TTATAGGTTCTGTAATTTTTGCTTCAAGAATATTGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAAC... |
Task1_train_12082 | A variant was discovered in gene CFTR-AS1, CFTR (CFTR antisense RNA 1| CF transmembrane conductance regulator), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cystic fibrosis | TGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAACTGACTTATATACTTTTATTTCAAGTATGTCCTC... | TGCTTTTTAAATTTAATATATAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAACTGACTTATATACTTTTATTTCAAGTATGTCCTC... |
Task1_train_12083 | This alteration in CFTR, CFTR-AS1 (CF transmembrane conductance regulator| CFTR antisense RNA 1) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cystic fibrosis | TAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAACTGACTTATATACTTTTATTTCAAGTATGTCCTCCACAAATATTTTTTGAATAG... | TAGATACTTATAATTACACTCTAGCATTATAAAGAGCCTTTTCTTTTTCATTGAATGTATTTGGGCCTGCATATGTCTAACATGAAAATTATAGTCCTTTTTTTGTTTCTTTGTTTGTATTTACAGTTTTAAGTTCCATTTTCAACCTTTATGCACTCTTTGCTTTAGGTGTGTCTCTTTTAGTTAGCATAAAGTTAGGTTTGTCTTTAATTTCACCTGAAGTCTTTTCCTCTTAATAGATGGGTTAAGCCAACTGAAAAATAAAACTGACTTATATACTTTTATTTCAAGTATGTCCTCCACAAATATTTTTTGAATAG... |
Task1_train_12084 | Consider a variant on Chromosome 7 in gene LOC111674475, CFTR (CFTR intron 11 enhancer| CF transmembrane conductance regulator). Determine its clinical classification and disease relevance. | Pathogenic; Cystic fibrosis | CTCCCTCACCCTCCTGAGTAGCTGGGGCTACAGGTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCA... | CTCCCTCACCCTCCTGAGTAGCTGGGGCTACAGGTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCA... |
Task1_train_12085 | A mutation found in CFTR, LOC111674475 (CF transmembrane conductance regulator| CFTR intron 11 enhancer) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cystic fibrosis | TCCCTCACCCTCCTGAGTAGCTGGGGCTACAGGTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCAC... | TCCCTCACCCTCCTGAGTAGCTGGGGCTACAGGTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCAC... |
Task1_train_12086 | This mutation is located in gene CFTR, LOC111674475 (CF transmembrane conductance regulator| CFTR intron 11 enhancer) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cystic fibrosis | CACCCTCCTGAGTAGCTGGGGCTACAGGTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCACTTGCA... | CACCCTCCTGAGTAGCTGGGGCTACAGGTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCACTTGCA... |
Task1_train_12087 | A genomic change on Chromosome 7 affects CFTR, LOC111674475 (CF transmembrane conductance regulator| CFTR intron 11 enhancer). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cystic fibrosis | CTACAGGTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCACTTGCATGAACACCTCTAAATTACCTT... | CTACAGGTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCACTTGCATGAACACCTCTAAATTACCTT... |
Task1_train_12088 | This mutation is located in gene CFTR, LOC111674475 (CF transmembrane conductance regulator| CFTR intron 11 enhancer) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cystic fibrosis | ACAGGTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCACTTGCATGAACACCTCTAAATTACCTTAT... | ACAGGTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCACTTGCATGAACACCTCTAAATTACCTTAT... |
Task1_train_12089 | Consider a variant on Chromosome 7 in gene CFTR, LOC111674475 (CF transmembrane conductance regulator| CFTR intron 11 enhancer). Determine its clinical classification and disease relevance. | Pathogenic; Cystic fibrosis | GTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCACTTGCATGAACACCTCTAAATTACCTTATTACC... | GTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCACTTGCATGAACACCTCTAAATTACCTTATTACC... |
Task1_train_12090 | A variant found in Chromosome 7 affects LOC111674475, CFTR (CFTR intron 11 enhancer| CF transmembrane conductance regulator). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Cystic fibrosis | GTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCACTTGCATGAACACCTCTAAATTACCTTATTACC... | GTGCATGCTACCATGCCCAGCTAATTTAAAAGGAAAAAAATTGTGTAGAGATGGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTTCCAATCTCAAGCATTTCTCCCACCCAGCATCCTGAAGTGCTGAGATTATAAGTGAGCCACTATGCCCAACCAGATTTAGTTTTTAAAAAGAGAATACGATTTGAAAAAGGAAAAATGTGAGGCAGGAGAGAAGAAATACACACACGAGCTGTTTTGTAATTGCTGTAAAACTGAAATCTTCAGCCTCACTAAAGGAGCACTTGCATGAACACCTCTAAATTACCTTATTACC... |
Task1_train_12091 | This sequence variant lies in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cystic fibrosis | TTAAAATAAACAGGACAAATGCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGG... | TTAAAATAAACAGGACAAATGCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGG... |
Task1_train_12092 | An alteration has been detected in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cystic fibrosis | TTAAAATAAACAGGACAAATGCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGG... | TTAAAATAAACAGGACAAATGCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGG... |
Task1_train_12093 | This is a variant in CFTR (CF transmembrane conductance regulator), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Cystic fibrosis | AAAATAAACAGGACAAATGCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAA... | AAAATAAACAGGACAAATGCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAA... |
Task1_train_12094 | A variant has been detected on Chromosome 7 in CFTR (CF transmembrane conductance regulator). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary pancreatitis | AAAATAAACAGGACAAATGCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAA... | AAAATAAACAGGACAAATGCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAA... |
Task1_train_12095 | The gene CFTR (CF transmembrane conductance regulator) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cystic fibrosis | AAACAGGACAAATGCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAA... | AAACAGGACAAATGCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAA... |
Task1_train_12096 | This alteration occurs within gene CFTR (CF transmembrane conductance regulator) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Cystic fibrosis | AAACAGGACAAATGCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAA... | AAACAGGACAAATGCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAA... |
Task1_train_12097 | A variant found in Chromosome 7 affects CFTR (CF transmembrane conductance regulator). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Cystic fibrosis | AAACAGGACAAATGCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAA... | AAACAGGACAAATGCATTAACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAA... |
Task1_train_12098 | Given this variant in gene CFTR (CF transmembrane conductance regulator) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cystic fibrosis | AACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAACCCTAACTGAGCACCTGC... | AACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAACCCTAACTGAGCACCTGC... |
Task1_train_12099 | A sequence alteration has been identified in CFTR (CF transmembrane conductance regulator) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Cystic fibrosis | ACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAACCCTAACTGAGCACCTGCA... | ACATTGTTGGGGGAGGAGGTCCCTTAGTAGAAACACTCTTGGTCCAAGCATTTTAAAGCTGTCAAAGAGATGTAAATATAGATAATGTATGTCAAGGAGAGAGCTTTGTGGTTAAACTGTAACTTTCAGTTTAAACAATTATTGGTGACTCTGATGTCAAATGTTTCTCAAGCTTTATCTGAACAAAATTCTTCTCACTTTGTTGCCAAAGTCGTTAACAAGAAATCACATTGACTCATTGATGTTTTGGCTCCTTTCCCTTACTTTCTGTTGCTTTCCAAAAGCTGAGACAGGAAACTAACCCTAACTGAGCACCTGCA... |
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