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_23300 | The variant affects gene GP1BA (glycoprotein Ib platelet subunit alpha), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pseudo von Willebrand disease | GAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACC... | GAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACC... |
Task1_train_23301 | Consider a variant on Chromosome 17 in gene GP1BA (glycoprotein Ib platelet subunit alpha). Determine its clinical classification and disease relevance. | Pathogenic; Pseudo von Willebrand disease | ACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGA... | ACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGA... |
Task1_train_23302 | Mutation context: Chromosome 17, Gene GP1BA (glycoprotein Ib platelet subunit alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Pseudo von Willebrand disease | AAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGG... | AAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGG... |
Task1_train_23303 | Chromosome 17 houses a mutation in gene SLC25A11 (solute carrier family 25 member 11). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Paragangliomas 6 | TCCAAGGCTTGGGGCCCAGAGAATGGGACTATGGAGACCCCCATCCCCCTCCAGATGGTCCTGAAGATCTCCCAAACCTGAAAGTCTGACCGAATCTCTCCCCAGGTGGAGGACCAACTCCTGAGCTTGGCAGTCAGGGAGTGCCAAGCACTGACCCCATCTGACAGTCCAGCTTCATCTCAAGGGAGATACCTCACAGTCTGTGCTCCAACTATCACAAGCCTATAGATCACCTGCTCCCCAACAGTGTTTTACTCTAAGCCTTTGCCCTCAGTCCAGCCAGGTGTGCTATCCTTGCCCCATCCCCAGCCAGTCTAACC... | TCCAAGGCTTGGGGCCCAGAGAATGGGACTATGGAGACCCCCATCCCCCTCCAGATGGTCCTGAAGATCTCCCAAACCTGAAAGTCTGACCGAATCTCTCCCCAGGTGGAGGACCAACTCCTGAGCTTGGCAGTCAGGGAGTGCCAAGCACTGACCCCATCTGACAGTCCAGCTTCATCTCAAGGGAGATACCTCACAGTCTGTGCTCCAACTATCACAAGCCTATAGATCACCTGCTCCCCAACAGTGTTTTACTCTAAGCCTTTGCCCTCAGTCCAGCCAGGTGTGCTATCCTTGCCCCATCCCCAGCCAGTCTAACC... |
Task1_train_23304 | This variant impacts the gene SLC25A11 (solute carrier family 25 member 11) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Paragangliomas 6 | CTGGCAAGCACTCCTCAGTTTGACCTTCCCAAACTCTCTTGTGCCCCAAGAGGTTTTAAGGCTCCTTGAAGGCTGGCCTGGGAACCACACATCTTCTAAAGAAATGGACAAGGTTCTCACTCTCCCCAGCCAAGGACCCAGATCAGGTCTCTGGCCAGCATTCCCCTTTCCTCAAGCTTCCAGTGCCCACCCACTTAAGCCCTGGCCTTCCACCTGCACTGCCTCCAGCCCACAGTGGTCTGACTTCCTCTCTAAGTCTCTTTATTTCCTCCCTCTTTAGGCTGCAGAAGCAGTCATCAGACCGAGGGGCTTTTCCTGGG... | CTGGCAAGCACTCCTCAGTTTGACCTTCCCAAACTCTCTTGTGCCCCAAGAGGTTTTAAGGCTCCTTGAAGGCTGGCCTGGGAACCACACATCTTCTAAAGAAATGGACAAGGTTCTCACTCTCCCCAGCCAAGGACCCAGATCAGGTCTCTGGCCAGCATTCCCCTTTCCTCAAGCTTCCAGTGCCCACCCACTTAAGCCCTGGCCTTCCACCTGCACTGCCTCCAGCCCACAGTGGTCTGACTTCCTCTCTAAGTCTCTTTATTTCCTCCCTCTTTAGGCTGCAGAAGCAGTCATCAGACCGAGGGGCTTTTCCTGGG... |
Task1_train_23305 | This sequence variant lies in SLC25A11 (solute carrier family 25 member 11) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Paragangliomas 6 | TTTGACCTTCCCAAACTCTCTTGTGCCCCAAGAGGTTTTAAGGCTCCTTGAAGGCTGGCCTGGGAACCACACATCTTCTAAAGAAATGGACAAGGTTCTCACTCTCCCCAGCCAAGGACCCAGATCAGGTCTCTGGCCAGCATTCCCCTTTCCTCAAGCTTCCAGTGCCCACCCACTTAAGCCCTGGCCTTCCACCTGCACTGCCTCCAGCCCACAGTGGTCTGACTTCCTCTCTAAGTCTCTTTATTTCCTCCCTCTTTAGGCTGCAGAAGCAGTCATCAGACCGAGGGGCTTTTCCTGGGGATTATGTGAGATGATCT... | TTTGACCTTCCCAAACTCTCTTGTGCCCCAAGAGGTTTTAAGGCTCCTTGAAGGCTGGCCTGGGAACCACACATCTTCTAAAGAAATGGACAAGGTTCTCACTCTCCCCAGCCAAGGACCCAGATCAGGTCTCTGGCCAGCATTCCCCTTTCCTCAAGCTTCCAGTGCCCACCCACTTAAGCCCTGGCCTTCCACCTGCACTGCCTCCAGCCCACAGTGGTCTGACTTCCTCTCTAAGTCTCTTTATTTCCTCCCTCTTTAGGCTGCAGAAGCAGTCATCAGACCGAGGGGCTTTTCCTGGGGATTATGTGAGATGATCT... |
Task1_train_23306 | Gene PFN1 (profilin 1), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | GCGGAGGTTGTCGGGGGCTGAGATTGCACCACTGTGCTCCAGCCTGGGCGACAGAGGGAGTCCCTTTCTCAAAAAAATAATAATAAAAATAAAGATGGCAGTAGGAAGGTTTCAGCTTGAGATGCTGTCTTTTCTTCTGTTTTTATGCATAAATACAACGAAGACGGGAGAGGAGATGGAAAGCAAAGATGATTAAGTGAAATAATTGTGGGAAACAATAGAGGGATAGACTTTGCTTATAGGGGATGTGGACAGAGCAGAAAAATGGGAGGAATGGGGAGGATTCAGTTAGAGAAGGAAGAAACCGGTACCAAGGGGCT... | GCGGAGGTTGTCGGGGGCTGAGATTGCACCACTGTGCTCCAGCCTGGGCGACAGAGGGAGTCCCTTTCTCAAAAAAATAATAATAAAAATAAAGATGGCAGTAGGAAGGTTTCAGCTTGAGATGCTGTCTTTTCTTCTGTTTTTATGCATAAATACAACGAAGACGGGAGAGGAGATGGAAAGCAAAGATGATTAAGTGAAATAATTGTGGGAAACAATAGAGGGATAGACTTTGCTTATAGGGGATGTGGACAGAGCAGAAAAATGGGAGGAATGGGGAGGATTCAGTTAGAGAAGGAAGAAACCGGTACCAAGGGGCT... |
Task1_train_23307 | A variant on Chromosome 17 in gene PFN1 (profilin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | GGGGGCTGAGATTGCACCACTGTGCTCCAGCCTGGGCGACAGAGGGAGTCCCTTTCTCAAAAAAATAATAATAAAAATAAAGATGGCAGTAGGAAGGTTTCAGCTTGAGATGCTGTCTTTTCTTCTGTTTTTATGCATAAATACAACGAAGACGGGAGAGGAGATGGAAAGCAAAGATGATTAAGTGAAATAATTGTGGGAAACAATAGAGGGATAGACTTTGCTTATAGGGGATGTGGACAGAGCAGAAAAATGGGAGGAATGGGGAGGATTCAGTTAGAGAAGGAAGAAACCGGTACCAAGGGGCTGGGGCTTTAGGC... | GGGGGCTGAGATTGCACCACTGTGCTCCAGCCTGGGCGACAGAGGGAGTCCCTTTCTCAAAAAAATAATAATAAAAATAAAGATGGCAGTAGGAAGGTTTCAGCTTGAGATGCTGTCTTTTCTTCTGTTTTTATGCATAAATACAACGAAGACGGGAGAGGAGATGGAAAGCAAAGATGATTAAGTGAAATAATTGTGGGAAACAATAGAGGGATAGACTTTGCTTATAGGGGATGTGGACAGAGCAGAAAAATGGGAGGAATGGGGAGGATTCAGTTAGAGAAGGAAGAAACCGGTACCAAGGGGCTGGGGCTTTAGGC... |
Task1_train_23308 | This mutation occurs in PFN1 (profilin 1) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Amyotrophic lateral sclerosis type 18 | TCACCTTGTTCCTCTCTGCAGCCTACCACAGCCGCTGCGTGGACCCCTGGCTCACTCAGACCCGGAAGACCTGCCCCATTTGCAAGCAGCCTGTTCATCGGGGTCCTGGGGACGAAGACCAAGAGGAAGAAACTCAAGGGCAAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGGACCCCACTTTTGGGTTCTAGCCCCACTCTTCCCACCTCCTTTGGTTCCTTAGCCCCAGCTCCCCTTGTTTTTCCTGGGCCTTCAACAGATCCCCCACTGTCCCCTCCCTCTTCCCCTGTTATCCTGGTC... | TCACCTTGTTCCTCTCTGCAGCCTACCACAGCCGCTGCGTGGACCCCTGGCTCACTCAGACCCGGAAGACCTGCCCCATTTGCAAGCAGCCTGTTCATCGGGGTCCTGGGGACGAAGACCAAGAGGAAGAAACTCAAGGGCAAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGGACCCCACTTTTGGGTTCTAGCCCCACTCTTCCCACCTCCTTTGGTTCCTTAGCCCCAGCTCCCCTTGTTTTTCCTGGGCCTTCAACAGATCCCCCACTGTCCCCTCCCTCTTCCCCTGTTATCCTGGTC... |
Task1_train_23309 | This variant lies on Chromosome 17 and affects the gene ENO3 (enolase 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Glycogen storage disease due to muscle beta-enolase deficiency | TACTAGGCACATGCTAAGAACTTTACATTCAATTTCTCTAATTTTCAGCAAAAGATCCTACAGGGAAGTAGGTGCTATCCCCATTTTACAGAAATGAGGAAAGAGAGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACCCACCTATAGTCCCAGCTACTAGGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCGG... | TACTAGGCACATGCTAAGAACTTTACATTCAATTTCTCTAATTTTCAGCAAAAGATCCTACAGGGAAGTAGGTGCTATCCCCATTTTACAGAAATGAGGAAAGAGAGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACCCACCTATAGTCCCAGCTACTAGGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCGG... |
Task1_train_23310 | A variant has been detected on Chromosome 17 in KIF1C (kinesin family member 1C). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Spastic ataxia 2 | AACTAAGAGGAGGGTAATGCTGGGCACAGAGCAGGTGCTAGTCGTAAGGGCGGGGGCTGGGGCAGGCTGGCCTTTCCCGTGTTCCCAGTCCCTGGGAGGGGGAATGTTGGCCTGGAGCCCTCCATTGCCCAATCCAGGGAGGCAGCTCAGTGGGGGCGGGTCCTAGGAAGCCAAAATTAGCTTTGGTGGCTGGAGGGGGTGGGGAATGTTAAAGGGGAGAGAAGAGTCAGGACAGTGGTGAGGAGTGGGATGCTTGGATTCCAGGGGCTGGTTGGGGTATGGGCAGGGACTGGGAATACCTGACCTTGACTTTCCTTCCT... | AACTAAGAGGAGGGTAATGCTGGGCACAGAGCAGGTGCTAGTCGTAAGGGCGGGGGCTGGGGCAGGCTGGCCTTTCCCGTGTTCCCAGTCCCTGGGAGGGGGAATGTTGGCCTGGAGCCCTCCATTGCCCAATCCAGGGAGGCAGCTCAGTGGGGGCGGGTCCTAGGAAGCCAAAATTAGCTTTGGTGGCTGGAGGGGGTGGGGAATGTTAAAGGGGAGAGAAGAGTCAGGACAGTGGTGAGGAGTGGGATGCTTGGATTCCAGGGGCTGGTTGGGGTATGGGCAGGGACTGGGAATACCTGACCTTGACTTTCCTTCCT... |
Task1_train_23311 | Consider a variant on Chromosome 17 in gene KIF1C (kinesin family member 1C). Determine its clinical classification and disease relevance. | Pathogenic; not provided | GGCAGGCTGGCCTTTCCCGTGTTCCCAGTCCCTGGGAGGGGGAATGTTGGCCTGGAGCCCTCCATTGCCCAATCCAGGGAGGCAGCTCAGTGGGGGCGGGTCCTAGGAAGCCAAAATTAGCTTTGGTGGCTGGAGGGGGTGGGGAATGTTAAAGGGGAGAGAAGAGTCAGGACAGTGGTGAGGAGTGGGATGCTTGGATTCCAGGGGCTGGTTGGGGTATGGGCAGGGACTGGGAATACCTGACCTTGACTTTCCTTCCTTTACCCTCTCCTGCCCCTCAGCCATCATCAATCCTAAACAGAGCAAGGATGCCCCCAAAA... | GGCAGGCTGGCCTTTCCCGTGTTCCCAGTCCCTGGGAGGGGGAATGTTGGCCTGGAGCCCTCCATTGCCCAATCCAGGGAGGCAGCTCAGTGGGGGCGGGTCCTAGGAAGCCAAAATTAGCTTTGGTGGCTGGAGGGGGTGGGGAATGTTAAAGGGGAGAGAAGAGTCAGGACAGTGGTGAGGAGTGGGATGCTTGGATTCCAGGGGCTGGTTGGGGTATGGGCAGGGACTGGGAATACCTGACCTTGACTTTCCTTCCTTTACCCTCTCCTGCCCCTCAGCCATCATCAATCCTAAACAGAGCAAGGATGCCCCCAAAA... |
Task1_train_23312 | Given a variant located on Chromosome 17 and affecting SLC52A1 (solute carrier family 52 member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | AAGGCACTACAATCTGTATTTAAATCTAATTGCACACTAGATAATATATGTATGAAAAATTATTTAATCCAGTTTCCTGATTTCATTATATATTTCTTATAAGGTTTTCATTAGGCTTTTGTTTTTGTTTTTGGTTTTAAATAAAAACACTTTATTGCACAAATCCCACAAAGGTCTCAGGCCCTGGGTCCAAGCCCACAGCCCCAACCTGTCCCCTGGCTCTGGGCCTGGTCTTTGGTGCCCACCCTGGCCTCACATGCCAACGTCTTCTGTGGAGTGTGCAGGTGTCCATGAGCGTTCCTGTGTTGGGGGAAGCCTGC... | AAGGCACTACAATCTGTATTTAAATCTAATTGCACACTAGATAATATATGTATGAAAAATTATTTAATCCAGTTTCCTGATTTCATTATATATTTCTTATAAGGTTTTCATTAGGCTTTTGTTTTTGTTTTTGGTTTTAAATAAAAACACTTTATTGCACAAATCCCACAAAGGTCTCAGGCCCTGGGTCCAAGCCCACAGCCCCAACCTGTCCCCTGGCTCTGGGCCTGGTCTTTGGTGCCCACCCTGGCCTCACATGCCAACGTCTTCTGTGGAGTGTGCAGGTGTCCATGAGCGTTCCTGTGTTGGGGGAAGCCTGC... |
Task1_train_23313 | Assess the clinical impact of this variant on gene NUP88 (nucleoporin 88), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Fetal akinesia deformation sequence 4 | GACCACAGGTACATGCTACCACAGTGGCTAATTTTTTTTTTTGTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGACATGATCTTGGCTCACTGCAGCCTCCACCTCCCAGGGTCATACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACTACACCCAGCTAATTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTAGTAATTCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC... | GACCACAGGTACATGCTACCACAGTGGCTAATTTTTTTTTTTGTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGACATGATCTTGGCTCACTGCAGCCTCCACCTCCCAGGGTCATACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACTACACCCAGCTAATTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTAGTAATTCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC... |
Task1_train_23314 | Mutation context: Chromosome 17, Gene C1QBP (complement C1q binding protein). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Combined oxidative phosphorylation deficiency 33 | AATTGTTATGGACCCCAGTTATCCACTCACCTAACCGTCAGTGCCCTGTGGCTCAGAGCAGCAGTGAAGCTAAGTAGGAGGTGAGGTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAA... | AATTGTTATGGACCCCAGTTATCCACTCACCTAACCGTCAGTGCCCTGTGGCTCAGAGCAGCAGTGAAGCTAAGTAGGAGGTGAGGTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAA... |
Task1_train_23315 | This variant impacts the gene C1QBP (complement C1q binding protein) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Combined oxidative phosphorylation deficiency 33 | ATTGTTATGGACCCCAGTTATCCACTCACCTAACCGTCAGTGCCCTGTGGCTCAGAGCAGCAGTGAAGCTAAGTAGGAGGTGAGGTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAAC... | ATTGTTATGGACCCCAGTTATCCACTCACCTAACCGTCAGTGCCCTGTGGCTCAGAGCAGCAGTGAAGCTAAGTAGGAGGTGAGGTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAAC... |
Task1_train_23316 | A variant has been detected on Chromosome 17 in C1QBP (complement C1q binding protein). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Combined oxidative phosphorylation deficiency 33 | GTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGCTCGCACCTGTACTCCCAGCTACTCGGAAGGCTGAAGTGGGA... | GTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGCTCGCACCTGTACTCCCAGCTACTCGGAAGGCTGAAGTGGGA... |
Task1_train_23317 | This variant lies on Chromosome 17 and affects the gene NLRP1 (NLR family pyrin domain containing 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Respiratory papillomatosis, juvenile recurrent, congenital | GTCCAGGCTGCAGTGAGCTGTGATTGCACCACTGCACTCCAGCCTAGGGGACAGAGCGAGACTCCGTCTCAGACAACAACAAACCAAAAAAAAAAAAAAATACCCCACACCCACTCACAAGAAGATAGCCTTGATATATAAAGAAAATAAAACTGACTATAAAATAAAATGTACAATATGGTTCGATTTCGCCATAGACATGTGCACAGAAAAAAGACTGGGGTTCTTACAATTGACCACTAATTTTTTTTTTTTTTGAGACTGAGTTTTGCTCTTTTTCCCAGGCTGGAGTGAAGTGGCACAATCTCAGCTCACTGCAA... | GTCCAGGCTGCAGTGAGCTGTGATTGCACCACTGCACTCCAGCCTAGGGGACAGAGCGAGACTCCGTCTCAGACAACAACAAACCAAAAAAAAAAAAAAATACCCCACACCCACTCACAAGAAGATAGCCTTGATATATAAAGAAAATAAAACTGACTATAAAATAAAATGTACAATATGGTTCGATTTCGCCATAGACATGTGCACAGAAAAAAGACTGGGGTTCTTACAATTGACCACTAATTTTTTTTTTTTTTGAGACTGAGTTTTGCTCTTTTTCCCAGGCTGGAGTGAAGTGGCACAATCTCAGCTCACTGCAA... |
Task1_train_23318 | This alteration in NLRP1 (NLR family pyrin domain containing 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | TCCTGGAAACAGTGCCTTGGACCAGTGGAGAGGCTCCAAGGGTGGGATTTCCTGAGGGAAATTTCAGATGTTTTCCAGAACCTCTGCTTAGCCTGCCAACCTGGTCCCCAGGGGACTCTTTGTCCATACATTTGCCTCTCCCACCTCACCACCCCGCCAGGAGCTCAGTAGGGTCTCACCTGTGTAGTAAATTCCTGACGTTTCATCCAGAGGCCATTGGGTCCCAGGAGCCTCCTGCTCTCTGGGTGCTAGGCTGGGCTGAGGTGGGGATCCCCAGCTCCCCAGCACTGCTGTGGATGTGGGGGCGTTGGGTGACTCCT... | TCCTGGAAACAGTGCCTTGGACCAGTGGAGAGGCTCCAAGGGTGGGATTTCCTGAGGGAAATTTCAGATGTTTTCCAGAACCTCTGCTTAGCCTGCCAACCTGGTCCCCAGGGGACTCTTTGTCCATACATTTGCCTCTCCCACCTCACCACCCCGCCAGGAGCTCAGTAGGGTCTCACCTGTGTAGTAAATTCCTGACGTTTCATCCAGAGGCCATTGGGTCCCAGGAGCCTCCTGCTCTCTGGGTGCTAGGCTGGGCTGAGGTGGGGATCCCCAGCTCCCCAGCACTGCTGTGGATGTGGGGGCGTTGGGTGACTCCT... |
Task1_train_23319 | An alteration has been detected in NLRP1 (NLR family pyrin domain containing 1) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | TTTTCCAGAACCTCTGCTTAGCCTGCCAACCTGGTCCCCAGGGGACTCTTTGTCCATACATTTGCCTCTCCCACCTCACCACCCCGCCAGGAGCTCAGTAGGGTCTCACCTGTGTAGTAAATTCCTGACGTTTCATCCAGAGGCCATTGGGTCCCAGGAGCCTCCTGCTCTCTGGGTGCTAGGCTGGGCTGAGGTGGGGATCCCCAGCTCCCCAGCACTGCTGTGGATGTGGGGGCGTTGGGTGACTCCTGGCTTGGAGACTCATGGTCTGGGGAGCTTGGAAGAGCTTGGTAGAGGAGTGAGGCAGAGATTTCTGGGGG... | TTTTCCAGAACCTCTGCTTAGCCTGCCAACCTGGTCCCCAGGGGACTCTTTGTCCATACATTTGCCTCTCCCACCTCACCACCCCGCCAGGAGCTCAGTAGGGTCTCACCTGTGTAGTAAATTCCTGACGTTTCATCCAGAGGCCATTGGGTCCCAGGAGCCTCCTGCTCTCTGGGTGCTAGGCTGGGCTGAGGTGGGGATCCCCAGCTCCCCAGCACTGCTGTGGATGTGGGGGCGTTGGGTGACTCCTGGCTTGGAGACTCATGGTCTGGGGAGCTTGGAAGAGCTTGGTAGAGGAGTGAGGCAGAGATTTCTGGGGG... |
Task1_train_23320 | Given a variant located on Chromosome 17 and affecting AIPL1 (AIP like 1 HSP90 co-chaperone), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not specified | GTTTATTGATTTTCAGATTGTAGAATCAACCTATGGACAAAGCACAGAAGATTTAGTTTTGCTTACAGAGCAGAAGGTAGATGTTAACAACAAGGAAGATGGAAAAGTAAAGTACATCAGAACTTTAGGGATACAGTTAGCGCTGGGGGAACCCCTGCTGGGTGGAGACAAGCTCTGGGGCAGAAGAGAAGCCCAGGAAGCCCTTGGCAGTTGACTACGTGGCCCTGGGCTGGATACTTCGTCGCCCCCCTGCCCCACCCCACACACCTGGGTGGTGCTAGAGGATGTCGCTGGCGTGATAGCCCCTCCTCGTACCCGTC... | GTTTATTGATTTTCAGATTGTAGAATCAACCTATGGACAAAGCACAGAAGATTTAGTTTTGCTTACAGAGCAGAAGGTAGATGTTAACAACAAGGAAGATGGAAAAGTAAAGTACATCAGAACTTTAGGGATACAGTTAGCGCTGGGGGAACCCCTGCTGGGTGGAGACAAGCTCTGGGGCAGAAGAGAAGCCCAGGAAGCCCTTGGCAGTTGACTACGTGGCCCTGGGCTGGATACTTCGTCGCCCCCCTGCCCCACCCCACACACCTGGGTGGTGCTAGAGGATGTCGCTGGCGTGATAGCCCCTCCTCGTACCCGTC... |
Task1_train_23321 | A variant on Chromosome 17 in gene AIPL1 (AIP like 1 HSP90 co-chaperone) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Leber congenital amaurosis | CACTGCAACCTCCGCCTCCCAGGTTCAATCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGACCACAGCTGTTTTCTTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGT... | CACTGCAACCTCCGCCTCCCAGGTTCAATCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGACCACAGCTGTTTTCTTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGT... |
Task1_train_23322 | Consider this mutation in AIPL1 (AIP like 1 HSP90 co-chaperone) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Leber congenital amaurosis 4 | CACTGCAACCTCCGCCTCCCAGGTTCAATCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGACCACAGCTGTTTTCTTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGT... | CACTGCAACCTCCGCCTCCCAGGTTCAATCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGACCACAGCTGTTTTCTTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGT... |
Task1_train_23323 | An alteration has been detected in AIPL1 (AIP like 1 HSP90 co-chaperone) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Leber congenital amaurosis 4 | ACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAA... | ACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAA... |
Task1_train_23324 | Gene AIPL1 (AIP like 1 HSP90 co-chaperone), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Leber congenital amaurosis 4 | ACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCA... | ACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCA... |
Task1_train_23325 | This sequence change occurs on Chromosome 17, altering AIPL1 (AIP like 1 HSP90 co-chaperone). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Leber congenital amaurosis 4 | CAGACTTTTGAAAAAGAGAGAAAGAGAGAGAGAAGAATCTGAATCTTATCAGGCCCTCTAGACCCCACTTTCAATTTATCAAAAATGTGGGGAATAGAGGAGCATGTTAGACAATTCCATGGCGAAGGAACCAGGAAAATCAGAATGTGGGACTTCTACAGGATAAATGACCCAGTTCCTTCAACACTTCCATGTCAAGGAAGAAAAGAAGAAAAGAAGGAGGCCGAGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCAGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATTCTGATCAACATG... | CAGACTTTTGAAAAAGAGAGAAAGAGAGAGAGAAGAATCTGAATCTTATCAGGCCCTCTAGACCCCACTTTCAATTTATCAAAAATGTGGGGAATAGAGGAGCATGTTAGACAATTCCATGGCGAAGGAACCAGGAAAATCAGAATGTGGGACTTCTACAGGATAAATGACCCAGTTCCTTCAACACTTCCATGTCAAGGAAGAAAAGAAGAAAAGAAGGAGGCCGAGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCAGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATTCTGATCAACATG... |
Task1_train_23326 | A variant found in Chromosome 17 affects AIPL1 (AIP like 1 HSP90 co-chaperone). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Leber congenital amaurosis 4 | CCTCTAGACCCCACTTTCAATTTATCAAAAATGTGGGGAATAGAGGAGCATGTTAGACAATTCCATGGCGAAGGAACCAGGAAAATCAGAATGTGGGACTTCTACAGGATAAATGACCCAGTTCCTTCAACACTTCCATGTCAAGGAAGAAAAGAAGAAAAGAAGGAGGCCGAGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCAGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATTCTGATCAACATGGTGAAACCCTGTCTGTACTAAAATACAAAAAATTACCCAGGCGTGGTGGCGGGC... | CCTCTAGACCCCACTTTCAATTTATCAAAAATGTGGGGAATAGAGGAGCATGTTAGACAATTCCATGGCGAAGGAACCAGGAAAATCAGAATGTGGGACTTCTACAGGATAAATGACCCAGTTCCTTCAACACTTCCATGTCAAGGAAGAAAAGAAGAAAAGAAGGAGGCCGAGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCAGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATTCTGATCAACATGGTGAAACCCTGTCTGTACTAAAATACAAAAAATTACCCAGGCGTGGTGGCGGGC... |
Task1_train_23327 | Here is a variant affecting AIPL1 (AIP like 1 HSP90 co-chaperone) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | GGGAGATGAAGCAAGACCAGCCGCGGGTTGATGGTGGCCGGCACTGGGTGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGA... | GGGAGATGAAGCAAGACCAGCCGCGGGTTGATGGTGGCCGGCACTGGGTGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGA... |
Task1_train_23328 | Here’s a variant in AIPL1 (AIP like 1 HSP90 co-chaperone) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Leber congenital amaurosis 4 | TGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGA... | TGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGA... |
Task1_train_23329 | Here is a genetic alteration in KIAA0753 (KIAA0753) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Joubert syndrome 38 | AGCTTTAATTCACTAGGTAATGGCTTTGTCTTGTATTCTCCATAAATCCTAACGAAACTAGGTAATAGTAAGCATTACTTCCAATGCACCTCTAACAAAAATTGGAATTAATTCCATACCTCAATTTGTTGCAGAATATCTATAACCACATCAGGAACAGAAGGGTCTGCATCCAGCTTGACAGAACAAAGTGAAAGCTGGCGAATAAGGCTGCCCAGTTCCTTACACCGAGCAGGAAGTGGATGCTCCCCTCGGTCAGTAAACTGAGTGACAAACATCTGTAAGGCCCGAATGGCTCCTCGATGGGCAGCCGCCAGCTT... | AGCTTTAATTCACTAGGTAATGGCTTTGTCTTGTATTCTCCATAAATCCTAACGAAACTAGGTAATAGTAAGCATTACTTCCAATGCACCTCTAACAAAAATTGGAATTAATTCCATACCTCAATTTGTTGCAGAATATCTATAACCACATCAGGAACAGAAGGGTCTGCATCCAGCTTGACAGAACAAAGTGAAAGCTGGCGAATAAGGCTGCCCAGTTCCTTACACCGAGCAGGAAGTGGATGCTCCCCTCGGTCAGTAAACTGAGTGACAAACATCTGTAAGGCCCGAATGGCTCCTCGATGGGCAGCCGCCAGCTT... |
Task1_train_23330 | Gene SLC13A5 (solute carrier family 13 member 5), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Developmental and epileptic encephalopathy, 25 | ACAGGGGGCCAGTCGATTAAAACAGAACCAAGTGATGAAGGGCGTAGGTTGGCCTGTGGTGCACTGTGGGTGGCAAGCCAGGTGTCGTCCTGAAGTTGGCAACTCAGATTCCTCATCCTTTGGTGGTGGCCACAGGAGGAGTTCCCAGAGGCTTCAGGAGGCTCTGATTCCCACTCGCACTCCAGCAGTGGGAGGTTGCTCAAGACCAGGCATTCCGTCCCTGGCTGGGGTGTCCCTTCCAGAGTGACAGAGATGATCTGAGGCTGCTCAAGGTGAGCTGGAAGGGACATGGGCACTGGTAGGTGGTTGTCTTAGCTCTC... | ACAGGGGGCCAGTCGATTAAAACAGAACCAAGTGATGAAGGGCGTAGGTTGGCCTGTGGTGCACTGTGGGTGGCAAGCCAGGTGTCGTCCTGAAGTTGGCAACTCAGATTCCTCATCCTTTGGTGGTGGCCACAGGAGGAGTTCCCAGAGGCTTCAGGAGGCTCTGATTCCCACTCGCACTCCAGCAGTGGGAGGTTGCTCAAGACCAGGCATTCCGTCCCTGGCTGGGGTGTCCCTTCCAGAGTGACAGAGATGATCTGAGGCTGCTCAAGGTGAGCTGGAAGGGACATGGGCACTGGTAGGTGGTTGTCTTAGCTCTC... |
Task1_train_23331 | A genomic change on Chromosome 17 affects DLG4 (discs large MAGUK scaffold protein 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Intellectual developmental disorder 62 | TAGCGCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTACCGAGTAGCTGGGATTACAGGTGCCCGCCAGTGCTGGGATTACAGGCGTGAGCCACCATGCCGCGCCCACAGGGGCACCTCTTTCTAAGCCATCCACTGGGGGTGGCGGGGGAGCTCTTTCTAATCCGAGCAAGGGCACCCTACATGCTGGCAACAGCCTTGCTGTGGCCTCACCTGAGAAGCACTCTGTGAACTCCTGCTCCAGCTTGGTGGCTCTGTCGAAGGCTTTGCGG... | TAGCGCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTACCGAGTAGCTGGGATTACAGGTGCCCGCCAGTGCTGGGATTACAGGCGTGAGCCACCATGCCGCGCCCACAGGGGCACCTCTTTCTAAGCCATCCACTGGGGGTGGCGGGGGAGCTCTTTCTAATCCGAGCAAGGGCACCCTACATGCTGGCAACAGCCTTGCTGTGGCCTCACCTGAGAAGCACTCTGTGAACTCCTGCTCCAGCTTGGTGGCTCTGTCGAAGGCTTTGCGG... |
Task1_train_23332 | Here is a variant affecting ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | GGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGGGTAAGAGGCAGGAGAATTCC... | GGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGGGTAAGAGGCAGGAGAATTCC... |
Task1_train_23333 | Consider this mutation in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | CCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGGGTAAGAGGCAGGAGAATTCCTGCAGTTCCTCTCAGGCCCGGGAGGAATCCA... | CCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGGGTAAGAGGCAGGAGAATTCCTGCAGTTCCTCTCAGGCCCGGGAGGAATCCA... |
Task1_train_23334 | This alteration in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | TTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGG... | TTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGG... |
Task1_train_23335 | A variant was discovered in gene ACADVL (acyl-CoA dehydrogenase very long chain), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | TCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGA... | TCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGA... |
Task1_train_23336 | An alteration has been detected in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | CCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACG... | CCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACG... |
Task1_train_23337 | With a mutation on Chromosome 17 in gene ACADVL (acyl-CoA dehydrogenase very long chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | CCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCG... | CCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCG... |
Task1_train_23338 | A sequence alteration has been identified in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | GCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGC... | GCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGC... |
Task1_train_23339 | This variant lies on Chromosome 17 and affects the gene ACADVL (acyl-CoA dehydrogenase very long chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | CTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTC... | CTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTC... |
Task1_train_23340 | A variant has been detected on Chromosome 17 in ACADVL (acyl-CoA dehydrogenase very long chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | GGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGA... | GGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGA... |
Task1_train_23341 | This is a variant in ACADVL (acyl-CoA dehydrogenase very long chain), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | AAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCT... | AAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCT... |
Task1_train_23342 | A sequence alteration has been identified in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Inborn genetic diseases | AAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCT... | AAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCT... |
Task1_train_23343 | Given a variant located on Chromosome 17 and affecting ACADVL (acyl-CoA dehydrogenase very long chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | CCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCC... | CCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCC... |
Task1_train_23344 | Gene ACADVL (acyl-CoA dehydrogenase very long chain), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | GGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCT... | GGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCT... |
Task1_train_23345 | Gene ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | CTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGC... | CTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGC... |
Task1_train_23346 | A variant on Chromosome 17 in gene ACADVL (acyl-CoA dehydrogenase very long chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | GCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGG... | GCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGG... |
Task1_train_23347 | A sequence alteration has been identified in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | CTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTT... | CTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTT... |
Task1_train_23348 | Given this context: Chromosome 17, gene ACADVL (acyl-CoA dehydrogenase very long chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | CCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGG... | CCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGG... |
Task1_train_23349 | Mutation context: Chromosome 17, Gene EIF5A (eukaryotic translation initiation factor 5A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Faundes-Banka syndrome | TCGAGTCAGTGCGTTCGCGCGAGGTGAGAGCGGGCAGGGCGCGTGTGCGCGGTACCTTGGCTTGGGCCCGGGAGAAGATGGAACTGCGCGGGGGTCGGGGAGGGGGCAGAGGGGAGCGGCGGCCGCCGCCGCACGGGTTCGGCCAGAGAGCGGCGCGAGGTGAGGAGAGGCGCGGGCGCGCGCCCCGGTTGGCGCGCGGGGTGACGGTTGGGGTTGGCCCGGTGACGTTGGAGCGACGCAGGGCGGGGGACGGCGAGCCGCGAGGCAGCCACGCGGGAGAGGCCGCCAGGCGGCCACGCCGGGGCGAGGGCCAGGGGCCA... | TCGAGTCAGTGCGTTCGCGCGAGGTGAGAGCGGGCAGGGCGCGTGTGCGCGGTACCTTGGCTTGGGCCCGGGAGAAGATGGAACTGCGCGGGGGTCGGGGAGGGGGCAGAGGGGAGCGGCGGCCGCCGCCGCACGGGTTCGGCCAGAGAGCGGCGCGAGGTGAGGAGAGGCGCGGGCGCGCGCCCCGGTTGGCGCGCGGGGTGACGGTTGGGGTTGGCCCGGTGACGTTGGAGCGACGCAGGGCGGGGGACGGCGAGCCGCGAGGCAGCCACGCGGGAGAGGCCGCCAGGCGGCCACGCCGGGGCGAGGGCCAGGGGCCA... |
Task1_train_23350 | A variant found in Chromosome 17 affects EIF5A (eukaryotic translation initiation factor 5A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Faundes-Banka syndrome | CCCTAGAGCCTTCCTTTCCCAAGCCACCACTTTAGCTTTGATTTATGGGGGAGAAACCAGCTATTCCACCCTCCCATACACACACCAGTTCTTGAGTATATTTGAGCCCAGTCAGTATTTTAAGTTCAGGAACTTTGACTTTATTTTAGGTGGGTAATGGAATAAAGAGTTGGGAAAATGTTTCTGGAGAGAAATGGGATAGATTGGAGGTCCTGTTGACCTCCATGCTTATTCACTTCAGTTCTCTTCTTGGCTCTAGTTGGAATCGAAGCCTCTTAAAATGGCAGATGACTTGGACTTCGAGACAGGAGATGCAGGGG... | CCCTAGAGCCTTCCTTTCCCAAGCCACCACTTTAGCTTTGATTTATGGGGGAGAAACCAGCTATTCCACCCTCCCATACACACACCAGTTCTTGAGTATATTTGAGCCCAGTCAGTATTTTAAGTTCAGGAACTTTGACTTTATTTTAGGTGGGTAATGGAATAAAGAGTTGGGAAAATGTTTCTGGAGAGAAATGGGATAGATTGGAGGTCCTGTTGACCTCCATGCTTATTCACTTCAGTTCTCTTCTTGGCTCTAGTTGGAATCGAAGCCTCTTAAAATGGCAGATGACTTGGACTTCGAGACAGGAGATGCAGGGG... |
Task1_train_23351 | Consider this mutation in CHRNB1 (cholinergic receptor nicotinic beta 1 subunit) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; See cases | CTTCTGACCTCAGGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATG... | CTTCTGACCTCAGGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATG... |
Task1_train_23352 | This alteration occurs within gene CHRNB1 (cholinergic receptor nicotinic beta 1 subunit) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Congenital myasthenic syndrome 2A | GGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCAT... | GGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCAT... |
Task1_train_23353 | A mutation on Chromosome 17 affecting CHRNB1 (cholinergic receptor nicotinic beta 1 subunit) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Congenital myasthenic syndrome 2C | GGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCAT... | GGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCAT... |
Task1_train_23354 | This variant lies on Chromosome 17 and affects the gene CHRNB1 (cholinergic receptor nicotinic beta 1 subunit). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Congenital myasthenic syndrome 2A | GTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATT... | GTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATT... |
Task1_train_23355 | The following genetic variant occurs in POLR2A (RNA polymerase II subunit A) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | TGGTCCAAATGGAAACCTGGCTTAAGTGGGCAGTGGGGCTCTGGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAA... | TGGTCCAAATGGAAACCTGGCTTAAGTGGGCAGTGGGGCTCTGGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAA... |
Task1_train_23356 | This alteration occurs within gene POLR2A (RNA polymerase II subunit A) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Inborn genetic diseases | TGGTCCAAATGGAAACCTGGCTTAAGTGGGCAGTGGGGCTCTGGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAA... | TGGTCCAAATGGAAACCTGGCTTAAGTGGGCAGTGGGGCTCTGGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAA... |
Task1_train_23357 | Given this context: Chromosome 17, gene POLR2A (RNA polymerase II subunit A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | GGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAAAGAAATTTATGCTTATTGTTAAGAACAAAAACAAAAATTTCA... | GGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAAAGAAATTTATGCTTATTGTTAAGAACAAAAACAAAAATTTCA... |
Task1_train_23358 | This alteration occurs within gene POLR2A (RNA polymerase II subunit A) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | ATCAGTAAGTGCATGAAAAGATACTCAACATCATTAGCCATCAGGGAAATGCAAATGAAACCAGAGTGATGTGCCACTTCACATGCACTAGGATGACTGTAATCCAAAACACAGATAATAACAAGTGTTGACAAGGATGTGGAAAAATTAGAACCCTCATACATTGCTAGTAGAAAAGGTACAACTGCTTTAGGAAGTTAAAGCAGTTACCATATGGCCCAGCAGTTTCGTTCCTAGAGAGATTATACACACACACACGAGAGAACAGAAAACATATGGCCACACAAACATTTATACACAAATGTTCGTATCAGTGTTAC... | ATCAGTAAGTGCATGAAAAGATACTCAACATCATTAGCCATCAGGGAAATGCAAATGAAACCAGAGTGATGTGCCACTTCACATGCACTAGGATGACTGTAATCCAAAACACAGATAATAACAAGTGTTGACAAGGATGTGGAAAAATTAGAACCCTCATACATTGCTAGTAGAAAAGGTACAACTGCTTTAGGAAGTTAAAGCAGTTACCATATGGCCCAGCAGTTTCGTTCCTAGAGAGATTATACACACACACACGAGAGAACAGAAAACATATGGCCACACAAACATTTATACACAAATGTTCGTATCAGTGTTAC... |
Task1_train_23359 | Gene LOC126862482, POLR2A (CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7414586-7415785| RNA polymerase II subunit A), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | GCAACAAGAGTGAAACTATCTCAAAAAATAAAAAAAACATTGAGGGGCCAGTCATACCCACCTAATTTAGGGATAGGGAATGGTGATTAGCAACGATTTTCAAAATCCACAGCACCGGCCGAGTAGATAAAACAGGTGGTGTTGAAATAGGAGATAGGAGTGCCTCCCTGTCACGCTGTCACTTGGCTCTCCTCCCCCAAGGCTCCTGCAGCTTGCTTTGCTTAGGGAATACAAGCCCCACCCCTGAGGCAGGGGCCAGACTTGGGGGCAGGTTGGGCAGTAGGCATTGCTATGTCCTAGGGGAAGTCGTGTGACAGCCA... | GCAACAAGAGTGAAACTATCTCAAAAAATAAAAAAAACATTGAGGGGCCAGTCATACCCACCTAATTTAGGGATAGGGAATGGTGATTAGCAACGATTTTCAAAATCCACAGCACCGGCCGAGTAGATAAAACAGGTGGTGTTGAAATAGGAGATAGGAGTGCCTCCCTGTCACGCTGTCACTTGGCTCTCCTCCCCCAAGGCTCCTGCAGCTTGCTTTGCTTAGGGAATACAAGCCCCACCCCTGAGGCAGGGGCCAGACTTGGGGGCAGGTTGGGCAGTAGGCATTGCTATGTCCTAGGGGAAGTCGTGTGACAGCCA... |
Task1_train_23360 | A sequence alteration has been identified in MPDU1, MPDU1-AS1 (mannose-P-dolichol utilization defect 1| MPDU1 antisense RNA 1) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; MPDU1-congenital disorder of glycosylation | TACTTGGGAGGCTGAGGCAGAACTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGTCATCGCGCCACTAAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTCTCAAATAAATAAATATGAGATAATGCAGTCGGGAGAAGGGAGGGAGAGAATTTTATTAAATGTGACGAACTGCCCCCCCCCCCCCCCCAGCAGGAGAGCAGCAAAATTTATGCAAATCTTTGACGGGGTTTTCCTTGTCCTGCCAGGATTAAAAGCCATGAGTTTCTTGTCACATGCCTTTCTATGCCTTCCATGG... | TACTTGGGAGGCTGAGGCAGAACTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGTCATCGCGCCACTAAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTCTCAAATAAATAAATATGAGATAATGCAGTCGGGAGAAGGGAGGGAGAGAATTTTATTAAATGTGACGAACTGCCCCCCCCCCCCCCCCAGCAGGAGAGCAGCAAAATTTATGCAAATCTTTGACGGGGTTTTCCTTGTCCTGCCAGGATTAAAAGCCATGAGTTTCTTGTCACATGCCTTTCTATGCCTTCCATGG... |
Task1_train_23361 | This alteration in MPDU1 (mannose-P-dolichol utilization defect 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; MPDU1-congenital disorder of glycosylation | GTGGGACTTGCTTCACGGTGAGTTTTATTCAGCATCCGATCCAAGTCCTACTCGAGTGACCGTGGGCCCTTAGTCCAAGCCTTGATCGGCGACTAAGTGACGGCAGTGACTGCCGCCATGCCGAGCTGGACGGAAGTCACTTCTGAGAAGGGCGGAAGTGTCTCGGGCTCCTTAGAGGGAGGACACCATATTAGTGCCAGTGGGGAAGTCACCGGGTGGAATTACTTCTTTGTGGAGTTTGTGCTGTAGCGACAATGAAAAACGAAGAGTCAACTTTTATAAAACAAAATAAAAATTAAGTCAAATCATGCCAACCTTTA... | GTGGGACTTGCTTCACGGTGAGTTTTATTCAGCATCCGATCCAAGTCCTACTCGAGTGACCGTGGGCCCTTAGTCCAAGCCTTGATCGGCGACTAAGTGACGGCAGTGACTGCCGCCATGCCGAGCTGGACGGAAGTCACTTCTGAGAAGGGCGGAAGTGTCTCGGGCTCCTTAGAGGGAGGACACCATATTAGTGCCAGTGGGGAAGTCACCGGGTGGAATTACTTCTTTGTGGAGTTTGTGCTGTAGCGACAATGAAAAACGAAGAGTCAACTTTTATAAAACAAAATAAAAATTAAGTCAAATCATGCCAACCTTTA... |
Task1_train_23362 | An alteration has been detected in MPDU1 (mannose-P-dolichol utilization defect 1) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; MPDU1-congenital disorder of glycosylation | AAAGAGTGGTATGGGGCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGGCGTTCGAGACCAGCCTGGCCAATAGGGCGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTTGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGACAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAATTAAAATAAGAAAAAAAAA... | AAAGAGTGGTATGGGGCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGGCGTTCGAGACCAGCCTGGCCAATAGGGCGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTTGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGACAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAATTAAAATAAGAAAAAAAAA... |
Task1_train_23363 | Here is a variant affecting TP53 (tumor protein p53) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary cancer-predisposing syndrome | ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGA... | ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGA... |
Task1_train_23364 | Here’s a variant in TP53 (tumor protein p53) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Li-Fraumeni syndrome | ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGA... | ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGA... |
Task1_train_23365 | A variant was discovered on Chromosome 17, affecting TP53 (tumor protein p53). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Li-Fraumeni syndrome 1 | ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGA... | ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGA... |
Task1_train_23366 | Consider this mutation in TP53 (tumor protein p53) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Neoplasm | ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGA... | ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGA... |
Task1_train_23367 | Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Li-Fraumeni syndrome | ATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGC... | ATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGC... |
Task1_train_23368 | Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Neoplasm | ATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGC... | ATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGC... |
Task1_train_23369 | With a mutation on Chromosome 17 in gene TP53 (tumor protein p53), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTG... | TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTG... |
Task1_train_23370 | A variant has been detected on Chromosome 17 in TP53 (tumor protein p53). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Li-Fraumeni syndrome | TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTG... | TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTG... |
Task1_train_23371 | A variant affecting Chromosome 17, within the gene TP53 (tumor protein p53), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Li-Fraumeni syndrome 1 | TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTG... | TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTG... |
Task1_train_23372 | A variant found in Chromosome 17 affects TP53 (tumor protein p53). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Li-Fraumeni syndrome | ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCC... | ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCC... |
Task1_train_23373 | Given this context: Chromosome 17, gene TP53 (tumor protein p53) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary cancer-predisposing syndrome | ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCC... | ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCC... |
Task1_train_23374 | Here’s a variant in TP53 (tumor protein p53) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Li-Fraumeni syndrome 1 | ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCC... | ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCC... |
Task1_train_23375 | This alteration occurs within gene TP53 (tumor protein p53) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Li-Fraumeni syndrome 1 | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCA... | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCA... |
Task1_train_23376 | The gene TP53 (tumor protein p53) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Li-Fraumeni syndrome | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCA... | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCA... |
Task1_train_23377 | A mutation in TP53 (tumor protein p53), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neoplasm | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCA... | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCA... |
Task1_train_23378 | A change on Chromosome 17 affects gene TP53 (tumor protein p53). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Li-Fraumeni syndrome | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCA... | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCA... |
Task1_train_23379 | Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary cancer-predisposing syndrome | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCA... | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCA... |
Task1_train_23380 | Consider a variant on Chromosome 17 in gene TP53 (tumor protein p53). Determine its clinical classification and disease relevance. | Pathogenic; Neoplasm | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCA... | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCA... |
Task1_train_23381 | Given this variant in gene TP53 (tumor protein p53) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Li-Fraumeni syndrome 1 | TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCAC... | TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCAC... |
Task1_train_23382 | The following genetic variant occurs in TP53 (tumor protein p53) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary cancer-predisposing syndrome | TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCAC... | TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCAC... |
Task1_train_23383 | A genetic alteration is present in TP53 (tumor protein p53) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Li-Fraumeni syndrome | TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCAC... | TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCAC... |
Task1_train_23384 | Mutation context: Chromosome 17, Gene TP53 (tumor protein p53). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Familial cancer of breast | TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCAC... | TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCAC... |
Task1_train_23385 | Chromosome 17 houses a mutation in gene TP53 (tumor protein p53). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Li-Fraumeni syndrome 1 | AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCT... | AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCT... |
Task1_train_23386 | An alteration has been detected in TP53 (tumor protein p53) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Li-Fraumeni syndrome | AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCT... | AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCT... |
Task1_train_23387 | A genomic change on Chromosome 17 affects TP53 (tumor protein p53). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCT... | AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCT... |
Task1_train_23388 | Here is a variant affecting TP53 (tumor protein p53) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Li-Fraumeni syndrome | GCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCT... | GCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCT... |
Task1_train_23389 | This genomic variant is located on Chromosome 17, within the TP53 (tumor protein p53) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary cancer-predisposing syndrome | GCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCT... | GCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCT... |
Task1_train_23390 | A mutation found in TP53 (tumor protein p53) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Li-Fraumeni syndrome | TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAG... | TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAG... |
Task1_train_23391 | Here is a mutation in TP53 (tumor protein p53) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary cancer-predisposing syndrome | TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAG... | TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAG... |
Task1_train_23392 | The following genetic variant occurs in TP53 (tumor protein p53) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Neoplasm | TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAG... | TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAG... |
Task1_train_23393 | Gene TP53 (tumor protein p53) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Glioma susceptibility 1 | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG... | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG... |
Task1_train_23394 | This genomic variant is located on Chromosome 17, within the TP53 (tumor protein p53) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Bone osteosarcoma | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG... | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG... |
Task1_train_23395 | Located on Chromosome 17, this mutation impacts TP53 (tumor protein p53). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hepatocellular carcinoma | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG... | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG... |
Task1_train_23396 | Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Adrenocortical carcinoma, hereditary | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG... | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG... |
Task1_train_23397 | Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Carcinoma of pancreas | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG... | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG... |
Task1_train_23398 | The gene TP53 (tumor protein p53) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Choroid plexus papilloma | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG... | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG... |
Task1_train_23399 | Here’s a variant in TP53 (tumor protein p53) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Colorectal cancer | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG... | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.